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 220835222 220835222 + Missense_Mutation SNP G G T TCGA-OR-A5JB-01A-11D-A29I-10 TCGA-OR-A5JB-10A-01D-A29L-10 g.chr1:220835222G>T c.2102G>T c.(2101-2103)cGg>cTg p.R701L BLCA 1 220752768 220752768 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 g.chr1:220752768C>T c.124C>T c.(124-126)Cgg>Tgg p.R42W BLCA 1 220752866 220752866 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr1:220752866C>T c.222C>T c.(220-222)gtC>gtT p.V74V BLCA 1 220777450 220777450 + Missense_Mutation SNP G G C TCGA-XF-A9SI-01A-11D-A391-08 TCGA-XF-A9SI-10A-01D-A394-08 g.chr1:220777450G>C c.466G>C c.(466-468)Gag>Cag p.E156Q BLCA 1 220777454 220777454 + Missense_Mutation SNP A A T TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 g.chr1:220777454A>T c.470A>T c.(469-471)aAa>aTa p.K157I BLCA 1 220792050 220792050 + Missense_Mutation SNP C C A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 g.chr1:220792050C>A c.862C>A c.(862-864)Ctg>Atg p.L288M BLCA 1 220792050 220792050 + Silent SNP C C T TCGA-FD-A43P-01A-31D-A23U-08 TCGA-FD-A43P-10A-01D-A23U-08 g.chr1:220792050C>T c.862C>T c.(862-864)Ctg>Ttg p.L288L BLCA 1 220792055 220792055 + Missense_Mutation SNP G G T TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr1:220792055G>T c.867G>T c.(865-867)aaG>aaT p.K289N BLCA 1 220805572 220805572 + Missense_Mutation SNP G G C TCGA-4Z-AA7W-01A-11D-A391-08 TCGA-4Z-AA7W-10A-01D-A394-08 g.chr1:220805572G>C c.1039G>C c.(1039-1041)Gat>Cat p.D347H BLCA 1 220825334 220825334 + Silent SNP G G A TCGA-XF-A9T0-01A-11D-A391-08 TCGA-XF-A9T0-10A-01D-A394-08 g.chr1:220825334G>A c.1578G>A c.(1576-1578)acG>acA p.T526T BLCA 1 220825393 220825393 + Missense_Mutation SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 g.chr1:220825393C>T c.1637C>T c.(1636-1638)tCa>tTa p.S546L BLCA 1 220825429 220825429 + Missense_Mutation SNP C C G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 g.chr1:220825429C>G c.1673C>G c.(1672-1674)tCt>tGt p.S558C BLCA 1 220835326 220835326 + Missense_Mutation SNP G G C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 g.chr1:220835326G>C c.2206G>C c.(2206-2208)Gag>Cag p.E736Q BRCA 1 220752703 220752703 + Missense_Mutation SNP C C G TCGA-GI-A2C8-01A-11D-A16D-09 TCGA-GI-A2C8-11A-22D-A16D-09 g.chr1:220752703C>G c.59C>G c.(58-60)tCt>tGt p.S20C BRCA 1 220791767 220791767 + Missense_Mutation SNP C C T TCGA-D8-A1XZ-01A-11D-A14K-09 TCGA-D8-A1XZ-10A-01D-A14K-09 g.chr1:220791767C>T c.668C>T c.(667-669)gCt>gTt p.A223V BRCA 1 220804452 220804452 + Missense_Mutation SNP G G A TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 g.chr1:220804452G>A c.985G>A c.(985-987)Gat>Aat p.D329N BRCA 1 220824018 220824018 + Silent SNP G G A TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 g.chr1:220824018G>A c.1527G>A c.(1525-1527)agG>agA p.R509R BRCA 1 220825377 220825377 + Missense_Mutation SNP G G A TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 g.chr1:220825377G>A c.1621G>A c.(1621-1623)Gcc>Acc p.A541T BRCA 1 220825486 220825486 + Missense_Mutation SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 g.chr1:220825486G>T c.1730G>T c.(1729-1731)cGg>cTg p.R577L BRCA 1 220835233 220835233 + Missense_Mutation SNP A A G TCGA-C8-A12X-01A-11D-A10Y-09 TCGA-C8-A12X-10A-01D-A110-09 g.chr1:220835233A>G c.2113A>G c.(2113-2115)Agt>Ggt p.S705G BRCA 1 220835278 220835278 + Missense_Mutation SNP G G C TCGA-A2-A0EY-01A-11W-A050-09 TCGA-A2-A0EY-10A-01W-A055-09 g.chr1:220835278G>C c.2158G>C c.(2158-2160)Gaa>Caa p.E720Q CESC 1 220804416 220804416 + Missense_Mutation SNP G G C TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 g.chr1:220804416G>C c.949G>C c.(949-951)Gag>Cag p.E317Q CESC 1 220804457 220804457 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 g.chr1:220804457C>T c.990C>T c.(988-990)ttC>ttT p.F330F CESC 1 220809274 220809274 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 g.chr1:220809274G>A c.1376G>A c.(1375-1377)cGa>cAa p.R459Q CESC 1 220826469 220826469 + Missense_Mutation SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 g.chr1:220826469C>T c.1763C>T c.(1762-1764)tCc>tTc p.S588F COAD 1 220752730 220752730 + Missense_Mutation SNP T T C TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr1:220752730T>C c.86T>C c.(85-87)aTc>aCc p.I29T COAD 1 220752848 220752848 + Missense_Mutation SNP G G T TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr1:220752848G>T c.204G>T c.(202-204)aaG>aaT p.K68N COAD 1 220773171 220773171 + Silent SNP G G A TCGA-AA-3833-01A-01W-0900-09 TCGA-AA-3833-10A-01W-0900-09 g.chr1:220773171G>A c.390G>A c.(388-390)aaG>aaA p.K130K COAD 1 220777410 220777410 + Splice_Site SNP T T C TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr1:220777410T>C c.426T>C c.(424-426)ggT>ggC p.G142G COAD 1 220789323 220789324 + Frame_Shift_Ins INS - - A TCGA-G4-6299-01A-11D-1771-10 TCGA-G4-6299-10A-01D-1771-10 g.chr1:220789323_220789324insA c.538_539insA c.(538-540)cacfs p.H180fs COAD 1 220791797 220791797 + Missense_Mutation SNP A A G TCGA-A6-5659-01A-01D-1650-10 TCGA-A6-5659-11A-01D-1650-10 g.chr1:220791797A>G c.698A>G c.(697-699)tAt>tGt p.Y233C COAD 1 220791797 220791797 + Missense_Mutation SNP A A G TCGA-DM-A28H-01A-11D-A16V-10 TCGA-DM-A28H-10A-01D-A16V-10 g.chr1:220791797A>G c.698A>G c.(697-699)tAt>tGt p.Y233C COAD 1 220805569 220805569 + Nonsense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:220805569C>T c.1036C>T c.(1036-1038)Cga>Tga p.R346* COAD 1 220805570 220805570 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:220805570G>A c.1037G>A c.(1036-1038)cGa>cAa p.R346Q COAD 1 220805596 220805596 + Missense_Mutation SNP A A G TCGA-AZ-6600-01A-11D-1771-10 TCGA-AZ-6600-11A-01D-1771-10 g.chr1:220805596A>G c.1063A>G c.(1063-1065)Aat>Gat p.N355D COAD 1 220805596 220805596 + Missense_Mutation SNP A A G TCGA-D5-6539-01A-11D-1719-10 TCGA-D5-6539-10A-01D-1719-10 g.chr1:220805596A>G c.1063A>G c.(1063-1065)Aat>Gat p.N355D COAD 1 220805597 220805597 + Missense_Mutation SNP A A G TCGA-CK-4947-01B-11D-1650-10 TCGA-CK-4947-10A-01D-1650-10 g.chr1:220805597A>G c.1064A>G c.(1063-1065)aAt>aGt p.N355S COAD 1 220805597 220805597 + Missense_Mutation SNP A A G TCGA-CM-6166-01A-11D-1650-10 TCGA-CM-6166-10A-01D-1650-10 g.chr1:220805597A>G c.1064A>G c.(1063-1065)aAt>aGt p.N355S COAD 1 220805598 220805598 + Silent SNP T T C TCGA-DM-A1D4-01A-21D-A152-10 TCGA-DM-A1D4-10A-01D-A152-10 g.chr1:220805598T>C c.1065T>C c.(1063-1065)aaT>aaC p.N355N COAD 1 220808727 220808727 + Missense_Mutation SNP G G T TCGA-D5-5537-01A-21D-1924-10 TCGA-D5-5537-10A-01D-1924-10 g.chr1:220808727G>T c.1132G>T c.(1132-1134)Ggt>Tgt p.G378C COAD 1 220808729 220808729 + Silent SNP T T C TCGA-AU-3779-01A-01D-1719-10 TCGA-AU-3779-10A-01D-1719-10 g.chr1:220808729T>C c.1134T>C c.(1132-1134)ggT>ggC p.G378G COAD 1 220808802 220808802 + Missense_Mutation SNP T T C TCGA-AU-3779-01A-01D-1719-10 TCGA-AU-3779-10A-01D-1719-10 g.chr1:220808802T>C c.1207T>C c.(1207-1209)Tcc>Ccc p.S403P COAD 1 220808802 220808802 + Missense_Mutation SNP T T C TCGA-CM-4747-01A-01D-1408-10 TCGA-CM-4747-10A-01D-1408-10 g.chr1:220808802T>C c.1207T>C c.(1207-1209)Tcc>Ccc p.S403P COAD 1 220809237 220809237 + Missense_Mutation SNP A A G TCGA-A6-5657-01A-01D-1650-10 TCGA-A6-5657-10A-01D-1650-10 g.chr1:220809237A>G c.1339A>G c.(1339-1341)Agt>Ggt p.S447G COAD 1 220809237 220809237 + Missense_Mutation SNP A A G TCGA-AZ-6599-01A-11D-1771-10 TCGA-AZ-6599-11A-01D-1771-10 g.chr1:220809237A>G c.1339A>G c.(1339-1341)Agt>Ggt p.S447G COAD 1 220809264 220809264 + Missense_Mutation SNP G G T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr1:220809264G>T c.1366G>T c.(1366-1368)Gat>Tat p.D456Y COAD 1 220809268 220809268 + Missense_Mutation SNP T T C TCGA-CM-6166-01A-11D-1650-10 TCGA-CM-6166-10A-01D-1650-10 g.chr1:220809268T>C c.1370T>C c.(1369-1371)gTg>gCg p.V457A COAD 1 220809268 220809268 + Missense_Mutation SNP T T C TCGA-D5-6923-01A-11D-1924-10 TCGA-D5-6923-10A-01D-1924-10 g.chr1:220809268T>C c.1370T>C c.(1369-1371)gTg>gCg p.V457A COAD 1 220824020 220824020 + Missense_Mutation SNP C C A TCGA-AZ-4681-01A-01D-1408-10 TCGA-AZ-4681-10A-01D-1408-10 g.chr1:220824020C>A c.1529C>A c.(1528-1530)aCc>aAc p.T510N COAD 1 220824028 220824028 + Nonsense_Mutation SNP C C T TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr1:220824028C>T c.1537C>T c.(1537-1539)Cga>Tga p.R513* COAD 1 220826463 220826463 + Missense_Mutation SNP C C T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr1:220826463C>T c.1757C>T c.(1756-1758)gCt>gTt p.A586V COAD 1 220826508 220826508 + Missense_Mutation SNP G G A TCGA-AA-A024-01A-02W-A00E-09 TCGA-AA-A024-10A-01W-A00E-09 g.chr1:220826508G>A c.1802G>A c.(1801-1803)cGg>cAg p.R601Q COAD 1 220835156 220835156 + Missense_Mutation SNP G G C TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr1:220835156G>C c.2036G>C c.(2035-2037)aGt>aCt p.S679T COAD 1 220835214 220835214 + Silent SNP T T A TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr1:220835214T>A c.2094T>A c.(2092-2094)cgT>cgA p.R698R COAD 1 220835216 220835216 + Missense_Mutation SNP C C A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:220835216C>A c.2096C>A c.(2095-2097)tCt>tAt p.S699Y COAD 1 220835221 220835221 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:220835221C>T c.2101C>T c.(2101-2103)Cgg>Tgg p.R701W COAD 1 220835343 220835343 + Missense_Mutation SNP C C A TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chr1:220835343C>A c.2223C>A c.(2221-2223)ttC>ttA p.F741L COAD 1 220835400 220835400 + Silent SNP C C T TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr1:220835400C>T c.2280C>T c.(2278-2280)tgC>tgT p.C760C COADREAD 1 220752730 220752730 + Missense_Mutation SNP T T C TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr1:220752730T>C c.86T>C c.(85-87)aTc>aCc p.I29T COADREAD 1 220752848 220752848 + Missense_Mutation SNP G G T TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr1:220752848G>T c.204G>T c.(202-204)aaG>aaT p.K68N COADREAD 1 220773171 220773171 + Silent SNP G G A TCGA-AA-3833-01A-01W-0900-09 TCGA-AA-3833-10A-01W-0900-09 g.chr1:220773171G>A c.390G>A c.(388-390)aaG>aaA p.K130K COADREAD 1 220777410 220777410 + Splice_Site SNP T T C TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr1:220777410T>C c.426T>C c.(424-426)ggT>ggC p.G142G COADREAD 1 220789323 220789324 + Frame_Shift_Ins INS - - A TCGA-G4-6299-01A-11D-1771-10 TCGA-G4-6299-10A-01D-1771-10 g.chr1:220789323_220789324insA c.538_539insA c.(538-540)cacfs p.H180fs COADREAD 1 220791797 220791797 + Missense_Mutation SNP A A G TCGA-A6-5659-01A-01D-1650-10 TCGA-A6-5659-11A-01D-1650-10 g.chr1:220791797A>G c.698A>G c.(697-699)tAt>tGt p.Y233C COADREAD 1 220791797 220791797 + Missense_Mutation SNP A A G TCGA-DM-A28H-01A-11D-A16V-10 TCGA-DM-A28H-10A-01D-A16V-10 g.chr1:220791797A>G c.698A>G c.(697-699)tAt>tGt p.Y233C COADREAD 1 220805569 220805569 + Nonsense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:220805569C>T c.1036C>T c.(1036-1038)Cga>Tga p.R346* COADREAD 1 220805570 220805570 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:220805570G>A c.1037G>A c.(1036-1038)cGa>cAa p.R346Q COADREAD 1 220805596 220805596 + Missense_Mutation SNP A A G TCGA-AZ-6600-01A-11D-1771-10 TCGA-AZ-6600-11A-01D-1771-10 g.chr1:220805596A>G c.1063A>G c.(1063-1065)Aat>Gat p.N355D COADREAD 1 220805596 220805596 + Missense_Mutation SNP A A G TCGA-D5-6539-01A-11D-1719-10 TCGA-D5-6539-10A-01D-1719-10 g.chr1:220805596A>G c.1063A>G c.(1063-1065)Aat>Gat p.N355D COADREAD 1 220805597 220805597 + Missense_Mutation SNP A A G TCGA-CK-4947-01B-11D-1650-10 TCGA-CK-4947-10A-01D-1650-10 g.chr1:220805597A>G c.1064A>G c.(1063-1065)aAt>aGt p.N355S COADREAD 1 220805597 220805597 + Missense_Mutation SNP A A G TCGA-CM-6166-01A-11D-1650-10 TCGA-CM-6166-10A-01D-1650-10 g.chr1:220805597A>G c.1064A>G c.(1063-1065)aAt>aGt p.N355S COADREAD 1 220805598 220805598 + Silent SNP T T C TCGA-DM-A1D4-01A-21D-A152-10 TCGA-DM-A1D4-10A-01D-A152-10 g.chr1:220805598T>C c.1065T>C c.(1063-1065)aaT>aaC p.N355N COADREAD 1 220808727 220808727 + Missense_Mutation SNP G G T TCGA-D5-5537-01A-21D-1924-10 TCGA-D5-5537-10A-01D-1924-10 g.chr1:220808727G>T c.1132G>T c.(1132-1134)Ggt>Tgt p.G378C COADREAD 1 220808729 220808729 + Silent SNP T T C TCGA-AU-3779-01A-01D-1719-10 TCGA-AU-3779-10A-01D-1719-10 g.chr1:220808729T>C c.1134T>C c.(1132-1134)ggT>ggC p.G378G COADREAD 1 220808802 220808802 + Missense_Mutation SNP T T C TCGA-AU-3779-01A-01D-1719-10 TCGA-AU-3779-10A-01D-1719-10 g.chr1:220808802T>C c.1207T>C c.(1207-1209)Tcc>Ccc p.S403P COADREAD 1 220808802 220808802 + Missense_Mutation SNP T T C TCGA-CM-4747-01A-01D-1408-10 TCGA-CM-4747-10A-01D-1408-10 g.chr1:220808802T>C c.1207T>C c.(1207-1209)Tcc>Ccc p.S403P COADREAD 1 220808816 220808816 + Silent SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:220808816G>T c.1221G>T c.(1219-1221)ctG>ctT p.L407L COADREAD 1 220809237 220809237 + Missense_Mutation SNP A A G TCGA-A6-5657-01A-01D-1650-10 TCGA-A6-5657-10A-01D-1650-10 g.chr1:220809237A>G c.1339A>G c.(1339-1341)Agt>Ggt p.S447G COADREAD 1 220809237 220809237 + Missense_Mutation SNP A A G TCGA-AZ-6599-01A-11D-1771-10 TCGA-AZ-6599-11A-01D-1771-10 g.chr1:220809237A>G c.1339A>G c.(1339-1341)Agt>Ggt p.S447G COADREAD 1 220809239 220809239 + Silent SNP T T C TCGA-DY-A1DD-01A-21D-A152-10 TCGA-DY-A1DD-10A-01D-A152-10 g.chr1:220809239T>C c.1341T>C c.(1339-1341)agT>agC p.S447S COADREAD 1 220809264 220809264 + Missense_Mutation SNP G G T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr1:220809264G>T c.1366G>T c.(1366-1368)Gat>Tat p.D456Y COADREAD 1 220809268 220809268 + Missense_Mutation SNP T T C TCGA-CM-6166-01A-11D-1650-10 TCGA-CM-6166-10A-01D-1650-10 g.chr1:220809268T>C c.1370T>C c.(1369-1371)gTg>gCg p.V457A COADREAD 1 220809268 220809268 + Missense_Mutation SNP T T C TCGA-D5-6923-01A-11D-1924-10 TCGA-D5-6923-10A-01D-1924-10 g.chr1:220809268T>C c.1370T>C c.(1369-1371)gTg>gCg p.V457A COADREAD 1 220809268 220809268 + Missense_Mutation SNP T T C TCGA-DY-A1DG-01A-11D-A152-10 TCGA-DY-A1DG-10A-01D-A152-10 g.chr1:220809268T>C c.1370T>C c.(1369-1371)gTg>gCg p.V457A COADREAD 1 220824020 220824020 + Missense_Mutation SNP C C A TCGA-AZ-4681-01A-01D-1408-10 TCGA-AZ-4681-10A-01D-1408-10 g.chr1:220824020C>A c.1529C>A c.(1528-1530)aCc>aAc p.T510N COADREAD 1 220824028 220824028 + Nonsense_Mutation SNP C C T TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr1:220824028C>T c.1537C>T c.(1537-1539)Cga>Tga p.R513* COADREAD 1 220825398 220825398 + Nonsense_Mutation SNP C C T TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr1:220825398C>T c.1642C>T c.(1642-1644)Cga>Tga p.R548* COADREAD 1 220826463 220826463 + Missense_Mutation SNP C C T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr1:220826463C>T c.1757C>T c.(1756-1758)gCt>gTt p.A586V COADREAD 1 220826465 220826465 + Missense_Mutation SNP G G T TCGA-AG-3726-01A-02W-0899-10 TCGA-AG-3726-10A-01W-0901-10 g.chr1:220826465G>T c.1759G>T c.(1759-1761)Gct>Tct p.A587S COADREAD 1 220826508 220826508 + Missense_Mutation SNP G G A TCGA-AA-A024-01A-02W-A00E-09 TCGA-AA-A024-10A-01W-A00E-09 g.chr1:220826508G>A c.1802G>A c.(1801-1803)cGg>cAg p.R601Q COADREAD 1 220826676 220826676 + Missense_Mutation SNP C C T TCGA-AG-3726-01A-02W-0899-10 TCGA-AG-3726-10A-01W-0901-10 g.chr1:220826676C>T c.1970C>T c.(1969-1971)aCa>aTa p.T657I COADREAD 1 220826690 220826690 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:220826690C>T c.1984C>T c.(1984-1986)Cgc>Tgc p.R662C COADREAD 1 220835156 220835156 + Missense_Mutation SNP G G C TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr1:220835156G>C c.2036G>C c.(2035-2037)aGt>aCt p.S679T COADREAD 1 220835214 220835214 + Silent SNP T T A TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr1:220835214T>A c.2094T>A c.(2092-2094)cgT>cgA p.R698R COADREAD 1 220835216 220835216 + Missense_Mutation SNP C C A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:220835216C>A c.2096C>A c.(2095-2097)tCt>tAt p.S699Y COADREAD 1 220835221 220835221 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:220835221C>T c.2101C>T c.(2101-2103)Cgg>Tgg p.R701W COADREAD 1 220835343 220835343 + Missense_Mutation SNP C C A TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chr1:220835343C>A c.2223C>A c.(2221-2223)ttC>ttA p.F741L COADREAD 1 220835400 220835400 + Silent SNP C C T TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr1:220835400C>T c.2280C>T c.(2278-2280)tgC>tgT p.C760C ESCA 1 220752752 220752752 + Silent SNP C C T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 g.chr1:220752752C>T c.108C>T c.(106-108)agC>agT p.S36S ESCA 1 220754431 220754431 + Missense_Mutation SNP A A C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 g.chr1:220754431A>C c.280A>C c.(280-282)Act>Cct p.T94P ESCA 1 220791681 220791681 + Missense_Mutation SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 g.chr1:220791681G>A c.582G>A c.(580-582)atG>atA p.M194I ESCA 1 220791724 220791724 + Missense_Mutation SNP G G T TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 g.chr1:220791724G>T c.625G>T c.(625-627)Gtt>Ttt p.V209F ESCA 1 220791832 220791832 + Missense_Mutation SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 g.chr1:220791832G>A c.733G>A c.(733-735)Gtc>Atc p.V245I ESCA 1 220808825 220808825 + Missense_Mutation SNP G G T TCGA-LN-A7HX-01A-11D-A33E-09 TCGA-LN-A7HX-10A-01D-A33H-09 g.chr1:220808825G>T c.1230G>T c.(1228-1230)caG>caT p.Q410H ESCA 1 220825478 220825478 + Silent SNP A A G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 g.chr1:220825478A>G c.1722A>G c.(1720-1722)gaA>gaG p.E574E ESCA 1 220825486 220825486 + Missense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 g.chr1:220825486G>T c.1730G>T c.(1729-1731)cGg>cTg p.R577L ESCA 1 220825486 220825486 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr1:220825486G>T c.1730G>T c.(1729-1731)cGg>cTg p.R577L ESCA 1 220835336 220835336 + Missense_Mutation SNP T T G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 g.chr1:220835336T>G c.2216T>G c.(2215-2217)tTg>tGg p.L739W ESCA 1 220835505 220835505 + Silent SNP G G A TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 g.chr1:220835505G>A c.2385G>A c.(2383-2385)ctG>ctA p.L795L GBMLGG 1 220791711 220791711 + Silent SNP T T C TCGA-E1-5319-01A-01D-1893-08 TCGA-E1-5319-10A-01D-1893-08 g.chr1:220791711T>C c.612T>C c.(610-612)agT>agC p.S204S GBMLGG 1 220791991 220791991 + Missense_Mutation SNP G G A TCGA-HT-8564-01A-11D-2395-08 TCGA-HT-8564-10A-01D-2396-08 g.chr1:220791991G>A c.803G>A c.(802-804)cGa>cAa p.R268Q GBMLGG 1 220804430 220804430 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:220804430G>A c.963G>A c.(961-963)aaG>aaA p.K321K GBMLGG 1 220831178 220831178 + Splice_Site SNP T T G TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 g.chr1:220831178T>G c.e17+2 HNSC 1 220754423 220754423 + Missense_Mutation SNP T T C TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 g.chr1:220754423T>C c.272T>C c.(271-273)aTa>aCa p.I91T HNSC 1 220791840 220791840 + Silent SNP C C T TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr1:220791840C>T c.741C>T c.(739-741)ctC>ctT p.L247L HNSC 1 220804398 220804398 + Missense_Mutation SNP A A T TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 g.chr1:220804398A>T c.931A>T c.(931-933)Atg>Ttg p.M311L HNSC 1 220805593 220805593 + Missense_Mutation SNP A A G TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 g.chr1:220805593A>G c.1060A>G c.(1060-1062)Ata>Gta p.I354V HNSC 1 220809219 220809219 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 g.chr1:220809219C>G c.1321C>G c.(1321-1323)Cag>Gag p.Q441E HNSC 1 220823975 220823975 + Missense_Mutation SNP C C T TCGA-CV-A468-01A-11D-A25Y-08 TCGA-CV-A468-10A-01D-A25Y-08 g.chr1:220823975C>T c.1484C>T c.(1483-1485)tCt>tTt p.S495F HNSC 1 220824023 220824023 + Missense_Mutation SNP C C T TCGA-CV-6938-01A-11D-1912-08 TCGA-CV-6938-10A-01D-1912-08 g.chr1:220824023C>T c.1532C>T c.(1531-1533)aCa>aTa p.T511I HNSC 1 220825399 220825399 + Missense_Mutation SNP G G T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 g.chr1:220825399G>T c.1643G>T c.(1642-1644)cGa>cTa p.R548L HNSC 1 220826574 220826574 + Missense_Mutation SNP G G C TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 g.chr1:220826574G>C c.1868G>C c.(1867-1869)cGc>cCc p.R623P KIPAN 1 220808856 220808856 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr1:220808856C>T c.1261C>T c.(1261-1263)Cgt>Tgt p.R421C KIPAN 1 220835248 220835248 + Missense_Mutation SNP A A G TCGA-BP-4974-01A-01D-1462-08 TCGA-BP-4974-11A-01D-1462-08 g.chr1:220835248A>G c.2128A>G c.(2128-2130)Agt>Ggt p.S710G KIPAN 1 220835299 220835299 + Missense_Mutation SNP G G T TCGA-B8-5549-01A-01D-1534-10 TCGA-B8-5549-10A-01D-1535-10 g.chr1:220835299G>T c.2179G>T c.(2179-2181)Gca>Tca p.A727S KIRC 1 220808856 220808856 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr1:220808856C>T c.1261C>T c.(1261-1263)Cgt>Tgt p.R421C KIRC 1 220835248 220835248 + Missense_Mutation SNP A A G TCGA-BP-4974-01A-01D-1462-08 TCGA-BP-4974-11A-01D-1462-08 g.chr1:220835248A>G c.2128A>G c.(2128-2130)Agt>Ggt p.S710G KIRC 1 220835299 220835299 + Missense_Mutation SNP G G T TCGA-B8-5549-01A-01D-1534-10 TCGA-B8-5549-10A-01D-1535-10 g.chr1:220835299G>T c.2179G>T c.(2179-2181)Gca>Tca p.A727S LGG 1 220791711 220791711 + Silent SNP T T C TCGA-E1-5319-01A-01D-1893-08 TCGA-E1-5319-10A-01D-1893-08 g.chr1:220791711T>C c.612T>C c.(610-612)agT>agC p.S204S LGG 1 220791991 220791991 + Missense_Mutation SNP G G A TCGA-HT-8564-01A-11D-2395-08 TCGA-HT-8564-10A-01D-2396-08 g.chr1:220791991G>A c.803G>A c.(802-804)cGa>cAa p.R268Q LGG 1 220804430 220804430 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:220804430G>A c.963G>A c.(961-963)aaG>aaA p.K321K LGG 1 220831178 220831178 + Splice_Site SNP T T G TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 g.chr1:220831178T>G c.e17+2 LIHC 1 220791830 220791830 + Missense_Mutation SNP G G T TCGA-DD-A73D-01A-12D-A32G-10 TCGA-DD-A73D-10A-01D-A32G-10 g.chr1:220791830G>T c.731G>T c.(730-732)gGc>gTc p.G244V LIHC 1 220792019 220792019 + Silent SNP C C T TCGA-DD-A39Y-01A-11D-A20W-10 TCGA-DD-A39Y-11A-11D-A20W-10 g.chr1:220792019C>T c.831C>T c.(829-831)ccC>ccT p.P277P LIHC 1 220826560 220826560 + Silent SNP G G A TCGA-ED-A4XI-01A-11D-A25V-10 TCGA-ED-A4XI-10A-01D-A25V-10 g.chr1:220826560G>A c.1854G>A c.(1852-1854)caG>caA p.Q618Q LIHC 1 220826619 220826619 + Missense_Mutation SNP C C T TCGA-DD-AAW0-01A-11D-A40R-10 TCGA-DD-AAW0-10A-01D-A40U-10 g.chr1:220826619C>T c.1913C>T c.(1912-1914)aCg>aTg p.T638M LUAD 1 220752708 220752708 + De_novo_Start_OutOfFrame SNP G G A TCGA-86-8073-01A-11D-2238-08 TCGA-86-8073-10A-01D-2238-08 g.chr1:220752708G>A LUAD 1 220752824 220752824 + Silent SNP C C T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 g.chr1:220752824C>T c.180C>T c.(178-180)taC>taT p.Y60Y LUAD 1 220752848 220752848 + Silent SNP G G A TCGA-44-2656-01A-02D-0969-08 TCGA-44-2656-10A-01D-0969-08 g.chr1:220752848G>A c.204G>A c.(202-204)aaG>aaA p.K68K LUAD 1 220752872 220752872 + Missense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 g.chr1:220752872G>T c.228G>T c.(226-228)ttG>ttT p.L76F LUAD 1 220771719 220771719 + Missense_Mutation SNP T T A TCGA-17-Z028-01A-01W-0746-08 TCGA-17-Z028-11A-01W-0746-08 g.chr1:220771719T>A c.356T>A c.(355-357)aTa>aAa p.I119K LUAD 1 220791735 220791736 + Frame_Shift_Ins INS - - T TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 g.chr1:220791735_220791736insT c.636_637insT c.(637-639)ttgfs p.L213fs LUAD 1 220791808 220791808 + Nonsense_Mutation SNP G G T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 g.chr1:220791808G>T c.709G>T c.(709-711)Gaa>Taa p.E237* LUAD 1 220791826 220791827 + Frame_Shift_Ins INS - - A TCGA-97-A4M0-01A-11D-A24P-08 TCGA-97-A4M0-10A-01D-A24P-08 g.chr1:220791826_220791827insA c.727_728insA c.(727-729)ctgfs p.L243fs LUAD 1 220791831 220791831 + Silent SNP C C T TCGA-91-A4BC-01A-11D-A24D-08 TCGA-91-A4BC-10A-01D-A24F-08 g.chr1:220791831C>T c.732C>T c.(730-732)ggC>ggT p.G244G LUAD 1 220791840 220791840 + Silent SNP C C T TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr1:220791840C>T c.741C>T c.(739-741)ctC>ctT p.L247L LUAD 1 220792037 220792037 + Missense_Mutation SNP C C G TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 g.chr1:220792037C>G c.849C>G c.(847-849)gaC>gaG p.D283E LUAD 1 220804410 220804410 + Missense_Mutation SNP C C T TCGA-17-Z010-01A-01W-0746-08 TCGA-17-Z010-11A-01W-0746-08 g.chr1:220804410C>T c.943C>T c.(943-945)Cat>Tat p.H315Y LUAD 1 220805550 220805550 + Missense_Mutation SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 g.chr1:220805550G>A c.1017G>A c.(1015-1017)atG>atA p.M339I LUAD 1 220805569 220805569 + Nonsense_Mutation SNP C C T TCGA-17-Z015-01A-01W-0746-08 TCGA-17-Z015-11A-01W-0746-08 g.chr1:220805569C>T c.1036C>T c.(1036-1038)Cga>Tga p.R346* LUAD 1 220805632 220805632 + Missense_Mutation SNP C C T TCGA-MP-A4T9-01A-11D-A24P-08 TCGA-MP-A4T9-10A-01D-A24P-08 g.chr1:220805632C>T c.1099C>T c.(1099-1101)Ctt>Ttt p.L367F LUAD 1 220808734 220808734 + Missense_Mutation SNP C C G TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 g.chr1:220808734C>G c.1139C>G c.(1138-1140)tCg>tGg p.S380W LUAD 1 220808735 220808735 + Silent SNP G G C TCGA-49-6743-01A-11D-1855-08 TCGA-49-6743-11A-01D-1855-08 g.chr1:220808735G>C c.1140G>C c.(1138-1140)tcG>tcC p.S380S LUAD 1 220824025 220824025 + Missense_Mutation SNP G G A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 g.chr1:220824025G>A c.1534G>A c.(1534-1536)Gat>Aat p.D512N LUAD 1 220825366 220825366 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 g.chr1:220825366G>C c.1610G>C c.(1609-1611)gGc>gCc p.G537A LUAD 1 220825454 220825454 + Silent SNP G G C TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 g.chr1:220825454G>C c.1698G>C c.(1696-1698)ctG>ctC p.L566L LUAD 1 220835211 220835211 + Silent SNP G G T TCGA-55-8616-01A-11D-2393-08 TCGA-55-8616-10A-01D-2393-08 g.chr1:220835211G>T c.2091G>T c.(2089-2091)ccG>ccT p.P697P LUAD 1 220835231 220835231 + Nonsense_Mutation SNP G G A TCGA-L9-A444-01A-21D-A24D-08 TCGA-L9-A444-10A-01D-A24F-08 g.chr1:220835231G>A c.2111G>A c.(2110-2112)tGg>tAg p.W704* LUAD 1 220835284 220835284 + Nonsense_Mutation SNP C C T TCGA-93-A4JN-01A-11D-A24P-08 TCGA-93-A4JN-10A-01D-A24P-08 g.chr1:220835284C>T c.2164C>T c.(2164-2166)Cga>Tga p.R722* LUAD 1 220835440 220835440 + Nonsense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 g.chr1:220835440C>T c.2320C>T c.(2320-2322)Cga>Tga p.R774* LUSC 1 220773197 220773197 + Missense_Mutation SNP C C T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 g.chr1:220773197C>T c.416C>T c.(415-417)gCg>gTg p.A139V LUSC 1 220777445 220777445 + Missense_Mutation SNP T T G TCGA-22-4591-01A-01D-1267-08 TCGA-22-4591-11A-01D-1267-08 g.chr1:220777445T>G c.461T>G c.(460-462)aTg>aGg p.M154R LUSC 1 220791715 220791715 + Missense_Mutation SNP G G A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 g.chr1:220791715G>A c.616G>A c.(616-618)Gaa>Aaa p.E206K LUSC 1 220792066 220792066 + Missense_Mutation SNP T T C TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 g.chr1:220792066T>C c.878T>C c.(877-879)gTc>gCc p.V293A LUSC 1 220809369 220809369 + Splice_Site SNP G G C TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 g.chr1:220809369G>C c.e13+1 LUSC 1 220835153 220835153 + Splice_Site SNP G G A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 g.chr1:220835153G>A c.e18-1 OV 1 220808727 220808727 + Missense_Mutation SNP G G A TCGA-24-1557-01A-01W-0615-10 TCGA-24-1557-10A-01W-0615-10 g.chr1:220808727G>A c.1132G>A c.(1132-1134)Ggt>Agt p.G378S OV 1 220808804 220808804 + Silent SNP C C G TCGA-25-1326-01A-01W-0492-08 TCGA-25-1326-10A-01W-0492-08 g.chr1:220808804C>G c.1209C>G c.(1207-1209)tcC>tcG p.S403S PAAD 1 220804392 220804392 + Nonsense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:220804392C>T c.925C>T c.(925-927)Cga>Tga p.R309* PRAD 1 220791998 220791998 + Silent SNP A A G TCGA-ZG-A8QY-01A-11D-A377-08 TCGA-ZG-A8QY-10A-01D-A37A-08 g.chr1:220791998A>G c.810A>G c.(808-810)ttA>ttG p.L270L PRAD 1 220792011 220792011 + Missense_Mutation SNP C C G TCGA-M7-A725-01A-12D-A32B-08 TCGA-M7-A725-10A-01D-A329-08 g.chr1:220792011C>G c.823C>G c.(823-825)Cgt>Ggt p.R275G READ 1 220808816 220808816 + Silent SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:220808816G>T c.1221G>T c.(1219-1221)ctG>ctT p.L407L READ 1 220809239 220809239 + Silent SNP T T C TCGA-DY-A1DD-01A-21D-A152-10 TCGA-DY-A1DD-10A-01D-A152-10 g.chr1:220809239T>C c.1341T>C c.(1339-1341)agT>agC p.S447S READ 1 220809268 220809268 + Missense_Mutation SNP T T C TCGA-DY-A1DG-01A-11D-A152-10 TCGA-DY-A1DG-10A-01D-A152-10 g.chr1:220809268T>C c.1370T>C c.(1369-1371)gTg>gCg p.V457A READ 1 220825398 220825398 + Nonsense_Mutation SNP C C T TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr1:220825398C>T c.1642C>T c.(1642-1644)Cga>Tga p.R548* READ 1 220826465 220826465 + Missense_Mutation SNP G G T TCGA-AG-3726-01A-02W-0899-10 TCGA-AG-3726-10A-01W-0901-10 g.chr1:220826465G>T c.1759G>T c.(1759-1761)Gct>Tct p.A587S READ 1 220826676 220826676 + Missense_Mutation SNP C C T TCGA-AG-3726-01A-02W-0899-10 TCGA-AG-3726-10A-01W-0901-10 g.chr1:220826676C>T c.1970C>T c.(1969-1971)aCa>aTa p.T657I READ 1 220826690 220826690 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:220826690C>T c.1984C>T c.(1984-1986)Cgc>Tgc p.R662C SARC 1 220804450 220804450 + Missense_Mutation SNP C C T TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 g.chr1:220804450C>T c.983C>T c.(982-984)cCg>cTg p.P328L SARC 1 220825491 220825491 + Splice_Site SNP G G A TCGA-K1-A42X-01A-11D-A24N-09 TCGA-K1-A42X-11A-11D-A24N-09 g.chr1:220825491G>A c.1735G>A c.(1735-1737)Ggt>Agt p.G579S SKCM 1 220752852 220752852 + Missense_Mutation SNP A A T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr1:220752852A>T c.208A>T c.(208-210)Aat>Tat p.N70Y SKCM 1 220771689 220771689 + Missense_Mutation SNP G G A TCGA-EE-A3AE-06A-11D-A196-08 TCGA-EE-A3AE-10A-01D-A198-08 g.chr1:220771689G>A c.326G>A c.(325-327)cGa>cAa p.R109Q SKCM 1 220771703 220771703 + Missense_Mutation SNP C C A TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr1:220771703C>A c.340C>A c.(340-342)Ctg>Atg p.L114M SKCM 1 220777408 220777408 + Splice_Site SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr1:220777408G>A c.e6-1 SKCM 1 220777410 220777410 + Splice_Site SNP T T G TCGA-FS-A1ZU-06A-12D-A196-08 TCGA-FS-A1ZU-10A-01D-A198-08 g.chr1:220777410T>G c.426T>G c.(424-426)ggT>ggG p.G142G SKCM 1 220777414 220777414 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 g.chr1:220777414G>A c.430G>A c.(430-432)Gta>Ata p.V144I SKCM 1 220789319 220789319 + Silent SNP T T C TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 g.chr1:220789319T>C c.534T>C c.(532-534)atT>atC p.I178I SKCM 1 220789325 220789325 + Silent SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr1:220789325C>T c.540C>T c.(538-540)caC>caT p.H180H SKCM 1 220789325 220789325 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 g.chr1:220789325C>T c.540C>T c.(538-540)caC>caT p.H180H SKCM 1 220791732 220791732 + Missense_Mutation SNP C C G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr1:220791732C>G c.633C>G c.(631-633)aaC>aaG p.N211K SKCM 1 220791794 220791794 + Missense_Mutation SNP A A C TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr1:220791794A>C c.695A>C c.(694-696)aAg>aCg p.K232T SKCM 1 220791985 220791985 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:220791985G>A c.797G>A c.(796-798)cGa>cAa p.R266Q SKCM 1 220792011 220792011 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:220792011C>T c.823C>T c.(823-825)Cgt>Tgt p.R275C SKCM 1 220792013 220792013 + Frame_Shift_Del DEL T T - TCGA-EE-A3JB-06A-11D-A21A-08 TCGA-EE-A3JB-10A-01D-A21A-08 g.chr1:220792013delT c.825delT c.(823-825)cgtfs p.R275fs SKCM 1 220792035 220792035 + Missense_Mutation SNP G G A TCGA-EE-A2MU-06A-21D-A196-08 TCGA-EE-A2MU-10A-01D-A198-08 g.chr1:220792035G>A c.847G>A c.(847-849)Gac>Aac p.D283N SKCM 1 220804420 220804420 + Missense_Mutation SNP A A C TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 g.chr1:220804420A>C c.953A>C c.(952-954)gAa>gCa p.E318A SKCM 1 220805570 220805570 + Missense_Mutation SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 g.chr1:220805570G>A c.1037G>A c.(1036-1038)cGa>cAa p.R346Q SKCM 1 220805599 220805599 + Nonsense_Mutation SNP C C T TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr1:220805599C>T c.1066C>T c.(1066-1068)Cag>Tag p.Q356* SKCM 1 220805608 220805608 + Missense_Mutation SNP G G A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 g.chr1:220805608G>A c.1075G>A c.(1075-1077)Gat>Aat p.D359N SKCM 1 220808746 220808746 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr1:220808746G>A c.1151G>A c.(1150-1152)gGa>gAa p.G384E SKCM 1 220824045 220824045 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr1:220824045G>A c.1554G>A c.(1552-1554)caG>caA p.Q518Q SKCM 1 220824054 220824054 + Missense_Mutation SNP A A T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 g.chr1:220824054A>T c.1563A>T c.(1561-1563)aaA>aaT p.K521N SKCM 1 220825467 220825467 + Missense_Mutation SNP G G C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 g.chr1:220825467G>C c.1711G>C c.(1711-1713)Gac>Cac p.D571H SKCM 1 220826477 220826477 + Missense_Mutation SNP G G T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 g.chr1:220826477G>T c.1771G>T c.(1771-1773)Gct>Tct p.A591S SKCM 1 220826508 220826508 + Missense_Mutation SNP G G A TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr1:220826508G>A c.1802G>A c.(1801-1803)cGg>cAg p.R601Q SKCM 1 220826519 220826519 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr1:220826519C>T c.1813C>T c.(1813-1815)Ccc>Tcc p.P605S SKCM 1 220826538 220826538 + Missense_Mutation SNP G G A TCGA-EE-A3AF-06A-11D-A196-08 TCGA-EE-A3AF-10A-01D-A198-08 g.chr1:220826538G>A c.1832G>A c.(1831-1833)cGa>cAa p.R611Q SKCM 1 220835350 220835350 + Missense_Mutation SNP C C T TCGA-FS-A1ZA-06A-11D-A197-08 TCGA-FS-A1ZA-10A-01D-A199-08 g.chr1:220835350C>T c.2230C>T c.(2230-2232)Cat>Tat p.H744Y

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 220771695 220771695 single base substitution T C 5_prime_UTR_variant BLCA-CN 1 220771695 220771695 single base substitution T C missense_variant M111T 332T>C BLCA-CN 1 220771705 220771705 single base substitution G T 5_prime_UTR_variant BLCA-CN 1 220771705 220771705 single base substitution G T synonymous_variant L114L 342G>T BLCA-CN 1 220809365 220809365 single base substitution A T synonymous_variant P354P 1062A>T BLCA-CN 1 220809365 220809365 single base substitution A T synonymous_variant P467P 1401A>T BLCA-CN 1 220809365 220809365 single base substitution A T synonymous_variant P489P 1467A>T BLCA-US 1 220752866 220752866 single base substitution C T 5_prime_UTR_variant BLCA-US 1 220752866 220752866 single base substitution C T downstream_gene_variant BLCA-US 1 220752866 220752866 single base substitution C T synonymous_variant V74V 222C>T BLCA-US 1 220792050 220792050 single base substitution C A missense_variant L153M 457C>A BLCA-US 1 220792050 220792050 single base substitution C A missense_variant L266M 796C>A BLCA-US 1 220792050 220792050 single base substitution C A missense_variant L288M 862C>A BLCA-US 1 220825393 220825393 single base substitution C T missense_variant S411L 1232C>T BLCA-US 1 220825393 220825393 single base substitution C T missense_variant S524L 1571C>T BLCA-US 1 220825393 220825393 single base substitution C T missense_variant S546L 1637C>T BLCA-US 1 220825429 220825429 single base substitution C G missense_variant S423C 1268C>G BLCA-US 1 220825429 220825429 single base substitution C G missense_variant S536C 1607C>G BLCA-US 1 220825429 220825429 single base substitution C G missense_variant S558C 1673C>G BOCA-FR 1 220697810 220697810 single base substitution G C upstream_gene_variant BOCA-FR 1 220744753 220744753 single base substitution T C intron_variant BOCA-FR 1 220774794 220774794 single base substitution C A intron_variant BOCA-FR 1 220785528 220785528 single base substitution C A intron_variant BOCA-FR 1 220832569 220832569 single base substitution A G intron_variant BRCA-EU 1 220696801 220696801 single base substitution G C upstream_gene_variant BRCA-EU 1 220697422 220697422 single base substitution C T upstream_gene_variant BRCA-EU 1 220698087 220698087 single base substitution G A upstream_gene_variant BRCA-EU 1 220698186 220698186 single base substitution G C upstream_gene_variant BRCA-EU 1 220698675 220698675 single base substitution A T upstream_gene_variant BRCA-EU 1 220698785 220698785 deletion of <=200bp A - upstream_gene_variant BRCA-EU 1 220698952 220698952 deletion of <=200bp T - upstream_gene_variant BRCA-EU 1 220698960 220698960 single base substitution T C upstream_gene_variant BRCA-EU 1 220699161 220699161 single base substitution G A upstream_gene_variant BRCA-EU 1 220699698 220699698 single base substitution C T upstream_gene_variant BRCA-EU 1 220701029 220701029 single base substitution G A upstream_gene_variant BRCA-EU 1 220701220 220701220 single base substitution G C upstream_gene_variant BRCA-EU 1 220702614 220702614 single base substitution A T intron_variant BRCA-EU 1 220703713 220703713 single base substitution G C intron_variant BRCA-EU 1 220704273 220704273 single base substitution T C intron_variant BRCA-EU 1 220706892 220706892 single base substitution G A intron_variant BRCA-EU 1 220708155 220708155 single base substitution A C intron_variant BRCA-EU 1 220708427 220708427 single base substitution C G intron_variant BRCA-EU 1 220708751 220708751 single base substitution T A intron_variant BRCA-EU 1 220709489 220709489 single base substitution T C intron_variant BRCA-EU 1 220710464 220710464 single base substitution T C intron_variant BRCA-EU 1 220712166 220712166 single base substitution G A intron_variant BRCA-EU 1 220713701 220713701 deletion of <=200bp T - intron_variant BRCA-EU 1 220714213 220714213 single base substitution T G intron_variant BRCA-EU 1 220714596 220714596 deletion of <=200bp T - intron_variant BRCA-EU 1 220716491 220716491 single base substitution G A intron_variant BRCA-EU 1 220716883 220716883 single base substitution T A intron_variant BRCA-EU 1 220717475 220717475 single base substitution A G intron_variant BRCA-EU 1 220719200 220719200 single base substitution G T intron_variant BRCA-EU 1 220719241 220719241 single base substitution C T intron_variant BRCA-EU 1 220719402 220719402 single base substitution T C intron_variant BRCA-EU 1 220720908 220720908 single base substitution G T intron_variant BRCA-EU 1 220721159 220721159 single base substitution C T intron_variant BRCA-EU 1 220721546 220721546 deletion of <=200bp T - intron_variant BRCA-EU 1 220722176 220722176 single base substitution C G intron_variant BRCA-EU 1 220723113 220723113 single base substitution C T intron_variant BRCA-EU 1 220723238 220723238 single base substitution T C intron_variant BRCA-EU 1 220723380 220723380 single base substitution C A intron_variant BRCA-EU 1 220724936 220724936 single base substitution C G intron_variant BRCA-EU 1 220725177 220725177 single base substitution C G intron_variant BRCA-EU 1 220728050 220728050 single base substitution C T intron_variant BRCA-EU 1 220730107 220730130 deletion of <=200bp TAAAATCTCAGTAGAATGATTAAG - intron_variant BRCA-EU 1 220730603 220730603 single base substitution C T intron_variant BRCA-EU 1 220731207 220731207 single base substitution C A intron_variant BRCA-EU 1 220733494 220733494 single base substitution T C intron_variant BRCA-EU 1 220733847 220733847 single base substitution C T intron_variant BRCA-EU 1 220734319 220734319 single base substitution G A intron_variant BRCA-EU 1 220734345 220734345 single base substitution T G intron_variant BRCA-EU 1 220734863 220734863 single base substitution G C intron_variant BRCA-EU 1 220735623 220735623 single base substitution G A intron_variant BRCA-EU 1 220738424 220738424 single base substitution G A intron_variant BRCA-EU 1 220738471 220738471 single base substitution G T intron_variant BRCA-EU 1 220738472 220738472 single base substitution A T intron_variant BRCA-EU 1 220741825 220741825 single base substitution G A intron_variant BRCA-EU 1 220742608 220742608 single base substitution T C intron_variant BRCA-EU 1 220742741 220742741 insertion of <=200bp - T intron_variant BRCA-EU 1 220743292 220743292 single base substitution T G intron_variant BRCA-EU 1 220743525 220743527 deletion of <=200bp GAA - intron_variant BRCA-EU 1 220745040 220745047 deletion of <=200bp GATGTAAC - intron_variant BRCA-EU 1 220745586 220745586 deletion of <=200bp T - intron_variant BRCA-EU 1 220745877 220745877 single base substitution G T intron_variant BRCA-EU 1 220746471 220746474 deletion of <=200bp TTTG - intron_variant BRCA-EU 1 220746636 220746636 single base substitution C T intron_variant BRCA-EU 1 220748621 220748621 single base substitution G A intron_variant BRCA-EU 1 220749046 220749046 single base substitution T C intron_variant BRCA-EU 1 220750710 220750710 single base substitution C T intron_variant BRCA-EU 1 220751472 220751472 single base substitution T C intron_variant BRCA-EU 1 220752196 220752196 deletion of <=200bp T - intron_variant BRCA-EU 1 220752332 220752332 single base substitution G A intron_variant BRCA-EU 1 220753016 220753016 single base substitution G C downstream_gene_variant BRCA-EU 1 220753016 220753016 single base substitution G C intron_variant BRCA-EU 1 220753525 220753525 deletion of <=200bp A - downstream_gene_variant BRCA-EU 1 220753525 220753525 deletion of <=200bp A - intron_variant BRCA-EU 1 220753677 220753677 single base substitution T G downstream_gene_variant BRCA-EU 1 220753677 220753677 single base substitution T G intron_variant BRCA-EU 1 220755874 220755874 single base substitution A T downstream_gene_variant BRCA-EU 1 220755874 220755874 single base substitution A T intron_variant BRCA-EU 1 220756630 220756630 single base substitution T C downstream_gene_variant BRCA-EU 1 220756630 220756630 single base substitution T C intron_variant BRCA-EU 1 220757764 220757764 single base substitution A C downstream_gene_variant BRCA-EU 1 220757764 220757764 single base substitution A C intron_variant BRCA-EU 1 220758913 220758913 single base substitution A T intron_variant BRCA-EU 1 220758921 220758921 single base substitution C A intron_variant BRCA-EU 1 220760867 220760867 single base substitution A C intron_variant BRCA-EU 1 220763111 220763111 single base substitution G A intron_variant BRCA-EU 1 220763996 220763996 single base substitution G C intron_variant BRCA-EU 1 220764295 220764295 single base substitution C G intron_variant BRCA-EU 1 220767605 220767605 single base substitution C T intron_variant BRCA-EU 1 220768918 220768918 single base substitution G C intron_variant BRCA-EU 1 220769169 220769169 single base substitution G A intron_variant BRCA-EU 1 220769334 220769334 single base substitution C T intron_variant BRCA-EU 1 220770755 220770755 single base substitution T C intron_variant BRCA-EU 1 220770842 220770842 single base substitution C T intron_variant BRCA-EU 1 220771479 220771479 single base substitution G T intron_variant BRCA-EU 1 220771862 220771862 single base substitution A G intron_variant BRCA-EU 1 220772794 220772794 single base substitution C T intron_variant BRCA-EU 1 220773667 220773667 single base substitution G T intron_variant BRCA-EU 1 220773845 220773845 single base substitution A C intron_variant BRCA-EU 1 220774298 220774298 single base substitution G A intron_variant BRCA-EU 1 220774886 220774886 single base substitution C T intron_variant BRCA-EU 1 220775881 220775881 single base substitution G C intron_variant BRCA-EU 1 220777071 220777071 single base substitution G C intron_variant BRCA-EU 1 220777878 220777878 deletion of <=200bp T - intron_variant BRCA-EU 1 220779010 220779010 single base substitution C A intron_variant BRCA-EU 1 220779821 220779821 single base substitution G A intron_variant BRCA-EU 1 220779851 220779851 single base substitution G T intron_variant BRCA-EU 1 220780030 220780030 single base substitution C G intron_variant BRCA-EU 1 220780387 220780387 single base substitution C T intron_variant BRCA-EU 1 220780555 220780555 single base substitution T A intron_variant BRCA-EU 1 220780768 220780768 single base substitution G A intron_variant BRCA-EU 1 220781871 220781871 single base substitution G T intron_variant BRCA-EU 1 220782280 220782280 single base substitution T C intron_variant BRCA-EU 1 220783194 220783194 single base substitution T A intron_variant BRCA-EU 1 220783711 220783711 single base substitution G A intron_variant BRCA-EU 1 220784015 220784015 single base substitution C T intron_variant BRCA-EU 1 220784139 220784139 single base substitution C G intron_variant BRCA-EU 1 220784222 220784222 single base substitution T C intron_variant BRCA-EU 1 220784264 220784264 single base substitution G A intron_variant BRCA-EU 1 220785867 220785867 single base substitution T C intron_variant BRCA-EU 1 220788247 220788247 single base substitution C T intron_variant BRCA-EU 1 220790580 220790580 single base substitution T G intron_variant BRCA-EU 1 220790593 220790593 single base substitution C G intron_variant BRCA-EU 1 220791092 220791092 deletion of <=200bp T - intron_variant BRCA-EU 1 220792281 220792281 single base substitution C G intron_variant BRCA-EU 1 220792462 220792462 single base substitution A C intron_variant BRCA-EU 1 220792505 220792505 single base substitution G C intron_variant BRCA-EU 1 220792686 220792686 single base substitution C G intron_variant BRCA-EU 1 220792965 220792965 single base substitution A G intron_variant BRCA-EU 1 220793792 220793792 single base substitution A C intron_variant BRCA-EU 1 220795850 220795850 single base substitution T C intron_variant BRCA-EU 1 220796134 220796134 single base substitution C T intron_variant BRCA-EU 1 220796365 220796365 single base substitution G C intron_variant BRCA-EU 1 220796596 220796596 single base substitution C T intron_variant BRCA-EU 1 220797020 220797020 single base substitution C G intron_variant BRCA-EU 1 220797504 220797504 single base substitution G A intron_variant BRCA-EU 1 220797512 220797512 single base substitution C T intron_variant BRCA-EU 1 220797657 220797658 deletion of <=200bp AT - intron_variant BRCA-EU 1 220798033 220798033 insertion of <=200bp - T intron_variant BRCA-EU 1 220800689 220800689 single base substitution G C intron_variant BRCA-EU 1 220802258 220802258 single base substitution T A intron_variant BRCA-EU 1 220803288 220803288 deletion of <=200bp T - intron_variant BRCA-EU 1 220803768 220803768 single base substitution C T intron_variant BRCA-EU 1 220804584 220804584 single base substitution G A intron_variant BRCA-EU 1 220805029 220805029 single base substitution T A intron_variant BRCA-EU 1 220805496 220805496 single base substitution C T intron_variant BRCA-EU 1 220805980 220805980 single base substitution G A intron_variant BRCA-EU 1 220807513 220807513 single base substitution G C intron_variant BRCA-EU 1 220807820 220807820 single base substitution G C intron_variant BRCA-EU 1 220809064 220809064 single base substitution A T intron_variant BRCA-EU 1 220809107 220809107 single base substitution T A intron_variant BRCA-EU 1 220810103 220810103 single base substitution T C intron_variant BRCA-EU 1 220810426 220810426 single base substitution C T intron_variant BRCA-EU 1 220810912 220810912 single base substitution T C intron_variant BRCA-EU 1 220812263 220812263 single base substitution A T intron_variant BRCA-EU 1 220813541 220813541 single base substitution C T intron_variant BRCA-EU 1 220814875 220814875 deletion of <=200bp T - intron_variant BRCA-EU 1 220817543 220817543 single base substitution C G intron_variant BRCA-EU 1 220818022 220818022 single base substitution A C intron_variant BRCA-EU 1 220818269 220818269 single base substitution A G intron_variant BRCA-EU 1 220818623 220818623 single base substitution A C intron_variant BRCA-EU 1 220818985 220818985 single base substitution C T intron_variant BRCA-EU 1 220819632 220819632 single base substitution G A intron_variant BRCA-EU 1 220820092 220820092 deletion of <=200bp G - intron_variant BRCA-EU 1 220820779 220820779 single base substitution T C intron_variant BRCA-EU 1 220821525 220821525 single base substitution T A intron_variant BRCA-EU 1 220821734 220821750 deletion of <=200bp AAAGTTAGTTTTATATG - intron_variant BRCA-EU 1 220821957 220821957 single base substitution G A intron_variant BRCA-EU 1 220822319 220822319 single base substitution T G intron_variant BRCA-EU 1 220823416 220823416 single base substitution G T intron_variant BRCA-EU 1 220823749 220823749 single base substitution G C intron_variant BRCA-EU 1 220826570 220826570 single base substitution C T stop_gained R487* 1459C>T BRCA-EU 1 220826570 220826570 single base substitution C T stop_gained R600* 1798C>T BRCA-EU 1 220826570 220826570 single base substitution C T stop_gained R622* 1864C>T BRCA-EU 1 220828173 220828173 single base substitution A T intron_variant BRCA-EU 1 220828298 220828298 single base substitution C G intron_variant BRCA-EU 1 220828739 220828739 single base substitution G C intron_variant BRCA-EU 1 220829897 220829897 single base substitution T C intron_variant BRCA-EU 1 220830352 220830352 single base substitution G A intron_variant BRCA-EU 1 220830862 220830862 single base substitution A G intron_variant BRCA-EU 1 220831217 220831217 single base substitution G A intron_variant BRCA-EU 1 220832316 220832316 single base substitution C G intron_variant BRCA-EU 1 220833348 220833348 single base substitution T A intron_variant BRCA-EU 1 220833883 220833883 deletion of <=200bp T - intron_variant BRCA-EU 1 220834612 220834612 single base substitution A T intron_variant BRCA-EU 1 220835176 220835176 single base substitution G C missense_variant E536Q 1606G>C BRCA-EU 1 220835176 220835176 single base substitution G C missense_variant E649Q 1945G>C BRCA-EU 1 220835176 220835176 single base substitution G C missense_variant E686Q 2056G>C BRCA-EU 1 220835338 220835338 single base substitution C T missense_variant L590F 1768C>T BRCA-EU 1 220835338 220835338 single base substitution C T missense_variant L703F 2107C>T BRCA-EU 1 220835338 220835338 single base substitution C T missense_variant L740F 2218C>T BRCA-EU 1 220835783 220835783 single base substitution T A 3_prime_UTR_variant BRCA-EU 1 220835909 220835909 single base substitution C T 3_prime_UTR_variant BRCA-EU 1 220835909 220835909 single base substitution C T downstream_gene_variant BRCA-EU 1 220836188 220836188 single base substitution G C 3_prime_UTR_variant BRCA-EU 1 220836188 220836188 single base substitution G C downstream_gene_variant BRCA-EU 1 220836705 220836705 single base substitution C A 3_prime_UTR_variant BRCA-EU 1 220836705 220836705 single base substitution C A downstream_gene_variant BRCA-EU 1 220838361 220838361 insertion of <=200bp - A downstream_gene_variant BRCA-EU 1 220838587 220838587 single base substitution G A downstream_gene_variant BRCA-EU 1 220838590 220838590 single base substitution C T downstream_gene_variant BRCA-EU 1 220838821 220838821 single base substitution G A downstream_gene_variant BRCA-EU 1 220839272 220839272 single base substitution G A downstream_gene_variant BRCA-EU 1 220839433 220839433 single base substitution G A downstream_gene_variant BRCA-EU 1 220839447 220839447 single base substitution T C downstream_gene_variant BRCA-EU 1 220839832 220839832 single base substitution G A downstream_gene_variant BRCA-EU 1 220839863 220839863 single base substitution G C downstream_gene_variant BRCA-EU 1 220839922 220839922 single base substitution G C downstream_gene_variant BRCA-EU 1 220840166 220840166 single base substitution G A downstream_gene_variant BRCA-EU 1 220840616 220840616 single base substitution T G downstream_gene_variant BRCA-EU 1 220840617 220840617 single base substitution G A downstream_gene_variant BRCA-EU 1 220840653 220840653 single base substitution G A downstream_gene_variant BRCA-EU 1 220840658 220840658 single base substitution A G downstream_gene_variant BRCA-EU 1 220841123 220841123 single base substitution C A downstream_gene_variant BRCA-EU 1 220841996 220841996 single base substitution C G downstream_gene_variant BRCA-EU 1 220842304 220842304 single base substitution G T downstream_gene_variant BRCA-EU 1 220842603 220842603 single base substitution T C downstream_gene_variant BRCA-FR 1 220697422 220697422 single base substitution C T upstream_gene_variant BRCA-FR 1 220698675 220698675 single base substitution A T upstream_gene_variant BRCA-FR 1 220705827 220705827 single base substitution A T intron_variant BRCA-FR 1 220706892 220706892 single base substitution G A intron_variant BRCA-FR 1 220709489 220709489 single base substitution T C intron_variant BRCA-FR 1 220710464 220710464 single base substitution T C intron_variant BRCA-FR 1 220717465 220717465 single base substitution G C intron_variant BRCA-FR 1 220720908 220720908 single base substitution G T intron_variant BRCA-FR 1 220721159 220721159 single base substitution C T intron_variant BRCA-FR 1 220723113 220723113 single base substitution C T intron_variant BRCA-FR 1 220723380 220723380 single base substitution C A intron_variant BRCA-FR 1 220725177 220725177 single base substitution C G intron_variant BRCA-FR 1 220728050 220728050 single base substitution C T intron_variant BRCA-FR 1 220728459 220728459 single base substitution G A intron_variant BRCA-FR 1 220734319 220734319 single base substitution G A intron_variant BRCA-FR 1 220734863 220734863 single base substitution G C intron_variant BRCA-FR 1 220741749 220741749 single base substitution A C intron_variant BRCA-FR 1 220763996 220763996 single base substitution G C intron_variant BRCA-FR 1 220770755 220770755 single base substitution T C intron_variant BRCA-FR 1 220775881 220775881 single base substitution G C intron_variant BRCA-FR 1 220782014 220782014 single base substitution A T intron_variant BRCA-FR 1 220784015 220784015 single base substitution C T intron_variant BRCA-FR 1 220784139 220784139 single base substitution C G intron_variant BRCA-FR 1 220784264 220784264 single base substitution G A intron_variant BRCA-FR 1 220790593 220790593 single base substitution C G intron_variant BRCA-FR 1 220796596 220796596 single base substitution C T intron_variant BRCA-FR 1 220797020 220797020 single base substitution C G intron_variant BRCA-FR 1 220800689 220800689 single base substitution G C intron_variant BRCA-FR 1 220804780 220804780 single base substitution G A intron_variant BRCA-FR 1 220805980 220805980 single base substitution G A intron_variant BRCA-FR 1 220813605 220813605 single base substitution C G intron_variant BRCA-FR 1 220823749 220823749 single base substitution G C intron_variant BRCA-FR 1 220828173 220828173 single base substitution A T intron_variant BRCA-FR 1 220832999 220832999 single base substitution G A intron_variant BRCA-FR 1 220833184 220833184 single base substitution G A intron_variant BRCA-FR 1 220835176 220835176 single base substitution G C missense_variant E536Q 1606G>C BRCA-FR 1 220835176 220835176 single base substitution G C missense_variant E649Q 1945G>C BRCA-FR 1 220835176 220835176 single base substitution G C missense_variant E686Q 2056G>C BRCA-FR 1 220839447 220839447 single base substitution T C downstream_gene_variant BRCA-FR 1 220839922 220839922 single base substitution G C downstream_gene_variant BRCA-UK 1 220702451 220702451 single base substitution C T intron_variant BRCA-UK 1 220707070 220707070 single base substitution C G intron_variant BRCA-UK 1 220708155 220708155 single base substitution A C intron_variant BRCA-UK 1 220719200 220719200 single base substitution G T intron_variant BRCA-UK 1 220727823 220727823 single base substitution C A intron_variant BRCA-UK 1 220734171 220734171 single base substitution G A intron_variant BRCA-UK 1 220738424 220738424 single base substitution G A intron_variant BRCA-UK 1 220755874 220755874 single base substitution A T downstream_gene_variant BRCA-UK 1 220755874 220755874 single base substitution A T intron_variant BRCA-UK 1 220779821 220779821 single base substitution G A intron_variant BRCA-UK 1 220780637 220780637 single base substitution G C intron_variant BRCA-UK 1 220784193 220784193 single base substitution C G intron_variant BRCA-UK 1 220789609 220789609 single base substitution C T intron_variant BRCA-UK 1 220839483 220839483 single base substitution G C downstream_gene_variant BRCA-US 1 220752703 220752703 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant BRCA-US 1 220752703 220752703 single base substitution C G exon_variant BRCA-US 1 220752703 220752703 single base substitution C G missense_variant S20C 59C>G BRCA-US 1 220791767 220791767 single base substitution C T missense_variant A201V 602C>T BRCA-US 1 220791767 220791767 single base substitution C T missense_variant A223V 668C>T BRCA-US 1 220791767 220791767 single base substitution C T missense_variant A88V 263C>T BRCA-US 1 220804452 220804452 single base substitution G A missense_variant D194N 580G>A BRCA-US 1 220804452 220804452 single base substitution G A missense_variant D307N 919G>A BRCA-US 1 220804452 220804452 single base substitution G A missense_variant D329N 985G>A BRCA-US 1 220824018 220824018 single base substitution G A synonymous_variant R374R 1122G>A BRCA-US 1 220824018 220824018 single base substitution G A synonymous_variant R487R 1461G>A BRCA-US 1 220824018 220824018 single base substitution G A synonymous_variant R509R 1527G>A BRCA-US 1 220825377 220825377 single base substitution G A missense_variant A406T 1216G>A BRCA-US 1 220825377 220825377 single base substitution G A missense_variant A519T 1555G>A BRCA-US 1 220825377 220825377 single base substitution G A missense_variant A541T 1621G>A BRCA-US 1 220825486 220825486 single base substitution G T missense_variant R442L 1325G>T BRCA-US 1 220825486 220825486 single base substitution G T missense_variant R555L 1664G>T BRCA-US 1 220825486 220825486 single base substitution G T missense_variant R577L 1730G>T BRCA-US 1 220835233 220835233 single base substitution A G missense_variant S555G 1663A>G BRCA-US 1 220835233 220835233 single base substitution A G missense_variant S668G 2002A>G BRCA-US 1 220835233 220835233 single base substitution A G missense_variant S705G 2113A>G BRCA-US 1 220835278 220835278 single base substitution G C missense_variant E570Q 1708G>C BRCA-US 1 220835278 220835278 single base substitution G C missense_variant E683Q 2047G>C BRCA-US 1 220835278 220835278 single base substitution G C missense_variant E720Q 2158G>C BTCA-JP 1 220771631 220771631 deletion of <=200bp T - intron_variant BTCA-JP 1 220771726 220771726 single base substitution G C splice_region_variant BTCA-JP 1 220791871 220791871 single base substitution G A missense_variant D123N 367G>A BTCA-JP 1 220791871 220791871 single base substitution G A missense_variant D236N 706G>A BTCA-JP 1 220791871 220791871 single base substitution G A missense_variant D258N 772G>A BTCA-JP 1 220791923 220791923 single base substitution C T intron_variant CESC-US 1 220804416 220804416 single base substitution G C missense_variant E182Q 544G>C CESC-US 1 220804416 220804416 single base substitution G C missense_variant E295Q 883G>C CESC-US 1 220804416 220804416 single base substitution G C missense_variant E317Q 949G>C CESC-US 1 220804457 220804457 single base substitution C T synonymous_variant F195F 585C>T CESC-US 1 220804457 220804457 single base substitution C T synonymous_variant F308F 924C>T CESC-US 1 220804457 220804457 single base substitution C T synonymous_variant F330F 990C>T CESC-US 1 220809274 220809274 single base substitution G A missense_variant R324Q 971G>A CESC-US 1 220809274 220809274 single base substitution G A missense_variant R437Q 1310G>A CESC-US 1 220809274 220809274 single base substitution G A missense_variant R459Q 1376G>A CESC-US 1 220826469 220826469 single base substitution C T missense_variant S453F 1358C>T CESC-US 1 220826469 220826469 single base substitution C T missense_variant S566F 1697C>T CESC-US 1 220826469 220826469 single base substitution C T missense_variant S588F 1763C>T CESC-US 1 220836011 220836011 single base substitution T G 3_prime_UTR_variant CESC-US 1 220836011 220836011 single base substitution T G downstream_gene_variant CLLE-ES 1 220721566 220721566 single base substitution G A intron_variant CLLE-ES 1 220724006 220724006 single base substitution G A intron_variant CLLE-ES 1 220725452 220725452 single base substitution A C intron_variant CLLE-ES 1 220728879 220728879 single base substitution C A intron_variant CLLE-ES 1 220733683 220733683 single base substitution T A intron_variant CLLE-ES 1 220780239 220780239 single base substitution C G intron_variant CLLE-ES 1 220781915 220781915 single base substitution C A intron_variant CLLE-ES 1 220786300 220786300 single base substitution A G intron_variant CLLE-ES 1 220792087 220792087 single base substitution G A missense_variant G165D 494G>A CLLE-ES 1 220792087 220792087 single base substitution G A missense_variant G278D 833G>A CLLE-ES 1 220792087 220792087 single base substitution G A missense_variant G300D 899G>A CLLE-ES 1 220792346 220792346 single base substitution G A intron_variant CLLE-ES 1 220808510 220808510 single base substitution T A intron_variant CLLE-ES 1 220821579 220821579 single base substitution C T intron_variant CLLE-ES 1 220837364 220837364 single base substitution A C 3_prime_UTR_variant CLLE-ES 1 220837364 220837364 single base substitution A C downstream_gene_variant COAD-US 1 220752730 220752730 single base substitution T C 5_prime_UTR_variant COAD-US 1 220752730 220752730 single base substitution T C exon_variant COAD-US 1 220752730 220752730 single base substitution T C missense_variant I29T 86T>C COAD-US 1 220777410 220777410 single base substitution T C splice_region_variant COAD-US 1 220789323 220789323 insertion of <=200bp - A frameshift_variant H158T? COAD-US 1 220789323 220789323 insertion of <=200bp - A frameshift_variant H180T? COAD-US 1 220789323 220789323 insertion of <=200bp - A frameshift_variant H45T? COAD-US 1 220805569 220805569 single base substitution C T stop_gained R211* 631C>T COAD-US 1 220805569 220805569 single base substitution C T stop_gained R324* 970C>T COAD-US 1 220805569 220805569 single base substitution C T stop_gained R346* 1036C>T COAD-US 1 220805570 220805570 single base substitution G A missense_variant R211Q 632G>A COAD-US 1 220805570 220805570 single base substitution G A missense_variant R324Q 971G>A COAD-US 1 220805570 220805570 single base substitution G A missense_variant R346Q 1037G>A COAD-US 1 220824028 220824028 single base substitution C T stop_gained R378* 1132C>T COAD-US 1 220824028 220824028 single base substitution C T stop_gained R491* 1471C>T COAD-US 1 220824028 220824028 single base substitution C T stop_gained R513* 1537C>T COAD-US 1 220835214 220835214 single base substitution T A synonymous_variant R548R 1644T>A COAD-US 1 220835214 220835214 single base substitution T A synonymous_variant R661R 1983T>A COAD-US 1 220835214 220835214 single base substitution T A synonymous_variant R698R 2094T>A COAD-US 1 220835216 220835216 single base substitution C A missense_variant S549Y 1646C>A COAD-US 1 220835216 220835216 single base substitution C A missense_variant S662Y 1985C>A COAD-US 1 220835216 220835216 single base substitution C A missense_variant S699Y 2096C>A COAD-US 1 220835221 220835221 single base substitution C T missense_variant R551W 1651C>T COAD-US 1 220835221 220835221 single base substitution C T missense_variant R664W 1990C>T COAD-US 1 220835221 220835221 single base substitution C T missense_variant R701W 2101C>T COAD-US 1 220835400 220835400 single base substitution C T synonymous_variant C610C 1830C>T COAD-US 1 220835400 220835400 single base substitution C T synonymous_variant C723C 2169C>T COAD-US 1 220835400 220835400 single base substitution C T synonymous_variant C760C 2280C>T COCA-CN 1 220729845 220729845 single base substitution A C intron_variant COCA-CN 1 220752648 220752648 single base substitution T G intron_variant COCA-CN 1 220754244 220754244 single base substitution T C downstream_gene_variant COCA-CN 1 220754244 220754244 single base substitution T C intron_variant COCA-CN 1 220767330 220767330 single base substitution T C intron_variant COCA-CN 1 220772642 220772642 single base substitution T C intron_variant COCA-CN 1 220773215 220773215 single base substitution A G intron_variant COCA-CN 1 220791961 220791961 single base substitution C A intron_variant COCA-CN 1 220809154 220809154 single base substitution C A intron_variant COCA-CN 1 220809210 220809210 single base substitution A G missense_variant K303E 907A>G COCA-CN 1 220809210 220809210 single base substitution A G missense_variant K416E 1246A>G COCA-CN 1 220809210 220809210 single base substitution A G missense_variant K438E 1312A>G COCA-CN 1 220825429 220825429 single base substitution C A missense_variant S423Y 1268C>A COCA-CN 1 220825429 220825429 single base substitution C A missense_variant S536Y 1607C>A COCA-CN 1 220825429 220825429 single base substitution C A missense_variant S558Y 1673C>A COCA-CN 1 220826400 220826400 single base substitution C A intron_variant COCA-CN 1 220835216 220835216 single base substitution C A missense_variant S549Y 1646C>A COCA-CN 1 220835216 220835216 single base substitution C A missense_variant S662Y 1985C>A COCA-CN 1 220835216 220835216 single base substitution C A missense_variant S699Y 2096C>A EOPC-DE 1 220735167 220735167 single base substitution C G intron_variant EOPC-DE 1 220736653 220736653 single base substitution T A intron_variant EOPC-DE 1 220807194 220807194 single base substitution T C intron_variant ESAD-UK 1 220697986 220697986 single base substitution A G upstream_gene_variant ESAD-UK 1 220698544 220698544 single base substitution T C upstream_gene_variant ESAD-UK 1 220699349 220699349 single base substitution T A upstream_gene_variant ESAD-UK 1 220699967 220699967 single base substitution G T upstream_gene_variant ESAD-UK 1 220700266 220700266 single base substitution C G upstream_gene_variant ESAD-UK 1 220700577 220700577 single base substitution G A upstream_gene_variant ESAD-UK 1 220701013 220701013 deletion of <=200bp C - upstream_gene_variant ESAD-UK 1 220701060 220701060 single base substitution G A upstream_gene_variant ESAD-UK 1 220701750 220701750 single base substitution G A 5_prime_UTR_variant ESAD-UK 1 220701750 220701750 single base substitution G A upstream_gene_variant ESAD-UK 1 220701955 220701955 single base substitution G A 5_prime_UTR_variant ESAD-UK 1 220701955 220701955 single base substitution G A upstream_gene_variant ESAD-UK 1 220702067 220702067 single base substitution C G 5_prime_UTR_variant ESAD-UK 1 220702067 220702067 single base substitution C G upstream_gene_variant ESAD-UK 1 220702157 220702157 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 1 220702157 220702157 single base substitution C T upstream_gene_variant ESAD-UK 1 220703833 220703833 single base substitution A C intron_variant ESAD-UK 1 220704338 220704338 single base substitution T G intron_variant ESAD-UK 1 220704539 220704539 single base substitution C G intron_variant ESAD-UK 1 220705212 220705212 single base substitution T G intron_variant ESAD-UK 1 220705365 220705365 single base substitution G T intron_variant ESAD-UK 1 220705706 220705706 single base substitution C A intron_variant ESAD-UK 1 220706347 220706347 insertion of <=200bp - T intron_variant ESAD-UK 1 220706354 220706354 single base substitution T A intron_variant ESAD-UK 1 220706355 220706355 single base substitution A T intron_variant ESAD-UK 1 220706935 220706935 single base substitution G T intron_variant ESAD-UK 1 220707000 220707000 single base substitution G A intron_variant ESAD-UK 1 220707356 220707356 single base substitution T G intron_variant ESAD-UK 1 220707427 220707427 single base substitution T G intron_variant ESAD-UK 1 220707982 220707982 single base substitution T C intron_variant ESAD-UK 1 220708065 220708065 single base substitution G T intron_variant ESAD-UK 1 220708207 220708207 single base substitution T G intron_variant ESAD-UK 1 220708777 220708777 single base substitution A T intron_variant ESAD-UK 1 220708783 220708783 single base substitution C G intron_variant ESAD-UK 1 220708947 220708947 single base substitution G T intron_variant ESAD-UK 1 220709035 220709035 single base substitution G A intron_variant ESAD-UK 1 220713095 220713095 single base substitution C T intron_variant ESAD-UK 1 220713310 220713310 single base substitution G A intron_variant ESAD-UK 1 220713433 220713433 single base substitution C A intron_variant ESAD-UK 1 220713765 220713765 single base substitution G A intron_variant ESAD-UK 1 220713821 220713821 single base substitution T C intron_variant ESAD-UK 1 220713909 220713909 single base substitution G A intron_variant ESAD-UK 1 220714133 220714133 single base substitution T G intron_variant ESAD-UK 1 220714280 220714280 single base substitution T C intron_variant ESAD-UK 1 220714759 220714759 single base substitution C T intron_variant ESAD-UK 1 220715265 220715265 single base substitution T G intron_variant ESAD-UK 1 220716356 220716356 single base substitution A T intron_variant ESAD-UK 1 220717608 220717608 single base substitution A G intron_variant ESAD-UK 1 220719016 220719016 single base substitution A C intron_variant ESAD-UK 1 220719019 220719019 single base substitution G A intron_variant ESAD-UK 1 220721075 220721075 insertion of <=200bp - T intron_variant ESAD-UK 1 220721263 220721263 single base substitution G T intron_variant ESAD-UK 1 220721264 220721264 single base substitution A T intron_variant ESAD-UK 1 220721863 220721863 single base substitution C A intron_variant ESAD-UK 1 220722217 220722217 deletion of <=200bp A - intron_variant ESAD-UK 1 220722393 220722393 single base substitution C T intron_variant ESAD-UK 1 220722676 220722676 single base substitution C T intron_variant ESAD-UK 1 220722903 220722903 single base substitution G T intron_variant ESAD-UK 1 220723931 220723931 single base substitution A C intron_variant ESAD-UK 1 220723937 220723937 single base substitution C T intron_variant ESAD-UK 1 220725900 220725900 single base substitution T C intron_variant ESAD-UK 1 220726405 220726405 single base substitution T C intron_variant ESAD-UK 1 220727453 220727453 single base substitution C A intron_variant ESAD-UK 1 220727952 220727952 single base substitution G A intron_variant ESAD-UK 1 220728214 220728214 single base substitution T A intron_variant ESAD-UK 1 220728561 220728561 single base substitution T G intron_variant ESAD-UK 1 220729326 220729326 single base substitution T G intron_variant ESAD-UK 1 220730691 220730691 single base substitution C T intron_variant ESAD-UK 1 220730847 220730847 single base substitution G A intron_variant ESAD-UK 1 220730923 220730923 insertion of <=200bp - T intron_variant ESAD-UK 1 220731035 220731035 single base substitution G C intron_variant ESAD-UK 1 220731317 220731317 insertion of <=200bp - A intron_variant ESAD-UK 1 220731677 220731677 single base substitution G A intron_variant ESAD-UK 1 220734205 220734205 single base substitution G T intron_variant ESAD-UK 1 220734852 220734852 single base substitution A C intron_variant ESAD-UK 1 220734888 220734888 single base substitution T C intron_variant ESAD-UK 1 220734888 220734888 single base substitution T G intron_variant ESAD-UK 1 220734917 220734917 single base substitution A G intron_variant ESAD-UK 1 220734965 220734965 single base substitution A C intron_variant ESAD-UK 1 220736264 220736264 single base substitution G C intron_variant ESAD-UK 1 220736648 220736648 single base substitution A T intron_variant ESAD-UK 1 220737340 220737340 single base substitution T G intron_variant ESAD-UK 1 220738470 220738470 single base substitution A G intron_variant ESAD-UK 1 220738531 220738531 single base substitution T A intron_variant ESAD-UK 1 220739735 220739735 single base substitution C A intron_variant ESAD-UK 1 220741473 220741473 single base substitution T C intron_variant ESAD-UK 1 220741489 220741489 single base substitution C T intron_variant ESAD-UK 1 220741923 220741923 single base substitution A C intron_variant ESAD-UK 1 220742282 220742282 single base substitution C A intron_variant ESAD-UK 1 220742681 220742681 single base substitution G T intron_variant ESAD-UK 1 220743522 220743522 single base substitution G A intron_variant ESAD-UK 1 220744320 220744320 insertion of <=200bp - T intron_variant ESAD-UK 1 220744690 220744690 single base substitution A G intron_variant ESAD-UK 1 220744854 220744854 single base substitution A C intron_variant ESAD-UK 1 220748790 220748790 single base substitution T G intron_variant ESAD-UK 1 220750548 220750548 single base substitution G T intron_variant ESAD-UK 1 220751218 220751218 single base substitution G A intron_variant ESAD-UK 1 220752967 220752967 single base substitution A T downstream_gene_variant ESAD-UK 1 220752967 220752967 single base substitution A T intron_variant ESAD-UK 1 220753986 220753986 single base substitution T G downstream_gene_variant ESAD-UK 1 220753986 220753986 single base substitution T G intron_variant ESAD-UK 1 220754399 220754399 insertion of <=200bp - T downstream_gene_variant ESAD-UK 1 220754399 220754399 insertion of <=200bp - T splice_region_variant ESAD-UK 1 220756529 220756529 single base substitution A G downstream_gene_variant ESAD-UK 1 220756529 220756529 single base substitution A G intron_variant ESAD-UK 1 220757117 220757117 single base substitution A C downstream_gene_variant ESAD-UK 1 220757117 220757117 single base substitution A C intron_variant ESAD-UK 1 220757848 220757848 single base substitution G A downstream_gene_variant ESAD-UK 1 220757848 220757848 single base substitution G A intron_variant ESAD-UK 1 220758886 220758886 single base substitution A G intron_variant ESAD-UK 1 220759458 220759458 single base substitution C G intron_variant ESAD-UK 1 220760880 220760880 single base substitution T G intron_variant ESAD-UK 1 220761491 220761491 single base substitution T G intron_variant ESAD-UK 1 220761650 220761650 single base substitution G T intron_variant ESAD-UK 1 220764020 220764020 single base substitution G T intron_variant ESAD-UK 1 220764733 220764733 single base substitution A C intron_variant ESAD-UK 1 220765268 220765268 single base substitution C G intron_variant ESAD-UK 1 220765586 220765586 insertion of <=200bp - TATAG intron_variant ESAD-UK 1 220765598 220765598 single base substitution T G intron_variant ESAD-UK 1 220766096 220766096 single base substitution T G intron_variant ESAD-UK 1 220766270 220766270 single base substitution T G intron_variant ESAD-UK 1 220766863 220766863 single base substitution C G intron_variant ESAD-UK 1 220767220 220767220 single base substitution A G intron_variant ESAD-UK 1 220767237 220767237 single base substitution A G intron_variant ESAD-UK 1 220768062 220768062 single base substitution A C intron_variant ESAD-UK 1 220768584 220768584 single base substitution T A intron_variant ESAD-UK 1 220769023 220769023 single base substitution G A intron_variant ESAD-UK 1 220769327 220769327 single base substitution C A intron_variant ESAD-UK 1 220769452 220769452 single base substitution G A intron_variant ESAD-UK 1 220770325 220770325 single base substitution A C intron_variant ESAD-UK 1 220770571 220770571 single base substitution A G intron_variant ESAD-UK 1 220770597 220770597 single base substitution A C intron_variant ESAD-UK 1 220771130 220771130 single base substitution C T intron_variant ESAD-UK 1 220771240 220771240 single base substitution C G intron_variant ESAD-UK 1 220771282 220771282 single base substitution A G intron_variant ESAD-UK 1 220771384 220771384 single base substitution A C intron_variant ESAD-UK 1 220772608 220772608 deletion of <=200bp T - intron_variant ESAD-UK 1 220772916 220772916 single base substitution T G intron_variant ESAD-UK 1 220775311 220775311 single base substitution A C intron_variant ESAD-UK 1 220776379 220776379 single base substitution T G intron_variant ESAD-UK 1 220777098 220777098 single base substitution C T intron_variant ESAD-UK 1 220777964 220777964 single base substitution A G intron_variant ESAD-UK 1 220778929 220778929 single base substitution A G intron_variant ESAD-UK 1 220779842 220779842 single base substitution T G intron_variant ESAD-UK 1 220780544 220780544 single base substitution C T intron_variant ESAD-UK 1 220781680 220781680 single base substitution G T intron_variant ESAD-UK 1 220781710 220781710 single base substitution G A intron_variant ESAD-UK 1 220782312 220782312 single base substitution T G intron_variant ESAD-UK 1 220782317 220782317 single base substitution A C intron_variant ESAD-UK 1 220782532 220782532 single base substitution A G intron_variant ESAD-UK 1 220783642 220783642 single base substitution G C intron_variant ESAD-UK 1 220785009 220785009 single base substitution G A intron_variant ESAD-UK 1 220785178 220785178 single base substitution G A intron_variant ESAD-UK 1 220785473 220785473 single base substitution C T intron_variant ESAD-UK 1 220785682 220785682 single base substitution G C intron_variant ESAD-UK 1 220787450 220787450 single base substitution A C intron_variant ESAD-UK 1 220787619 220787619 single base substitution G T intron_variant ESAD-UK 1 220788239 220788239 deletion of <=200bp T - intron_variant ESAD-UK 1 220788743 220788743 single base substitution C T intron_variant ESAD-UK 1 220789361 220789361 single base substitution T A intron_variant ESAD-UK 1 220789704 220789704 single base substitution T G intron_variant ESAD-UK 1 220790994 220790994 single base substitution A C intron_variant ESAD-UK 1 220791316 220791316 single base substitution C A intron_variant ESAD-UK 1 220792585 220792585 single base substitution G A intron_variant ESAD-UK 1 220792739 220792739 single base substitution T G intron_variant ESAD-UK 1 220793559 220793559 deletion of <=200bp A - intron_variant ESAD-UK 1 220794796 220794796 single base substitution G A intron_variant ESAD-UK 1 220797076 220797076 deletion of <=200bp T - intron_variant ESAD-UK 1 220799095 220799095 single base substitution A C intron_variant ESAD-UK 1 220799398 220799398 single base substitution G T intron_variant ESAD-UK 1 220799553 220799553 single base substitution C T intron_variant ESAD-UK 1 220800729 220800729 single base substitution A G intron_variant ESAD-UK 1 220801153 220801153 single base substitution G A intron_variant ESAD-UK 1 220802132 220802132 deletion of <=200bp A - intron_variant ESAD-UK 1 220802217 220802217 single base substitution C T intron_variant ESAD-UK 1 220803651 220803651 single base substitution T G intron_variant ESAD-UK 1 220803754 220803754 insertion of <=200bp - TGCC intron_variant ESAD-UK 1 220804310 220804310 single base substitution A C intron_variant ESAD-UK 1 220804840 220804840 single base substitution C T intron_variant ESAD-UK 1 220805525 220805525 single base substitution T A intron_variant ESAD-UK 1 220806524 220806524 single base substitution C G intron_variant ESAD-UK 1 220806664 220806664 single base substitution G A intron_variant ESAD-UK 1 220807177 220807177 single base substitution A T intron_variant ESAD-UK 1 220808151 220808151 single base substitution T C intron_variant ESAD-UK 1 220809202 220809202 single base substitution C G stop_gained S300* 899C>G ESAD-UK 1 220809202 220809202 single base substitution C G stop_gained S413* 1238C>G ESAD-UK 1 220809202 220809202 single base substitution C G stop_gained S435* 1304C>G ESAD-UK 1 220809900 220809900 single base substitution G C intron_variant ESAD-UK 1 220810052 220810052 insertion of <=200bp - A intron_variant ESAD-UK 1 220810497 220810497 single base substitution C T intron_variant ESAD-UK 1 220810971 220810971 single base substitution A C intron_variant ESAD-UK 1 220813585 220813585 single base substitution A G intron_variant ESAD-UK 1 220814011 220814011 single base substitution G C intron_variant ESAD-UK 1 220815571 220815571 single base substitution A T intron_variant ESAD-UK 1 220815580 220815580 single base substitution A C intron_variant ESAD-UK 1 220815581 220815581 single base substitution G A intron_variant ESAD-UK 1 220815603 220815603 single base substitution G A intron_variant ESAD-UK 1 220816393 220816393 single base substitution C A intron_variant ESAD-UK 1 220817038 220817038 single base substitution G T intron_variant ESAD-UK 1 220817545 220817545 single base substitution A C intron_variant ESAD-UK 1 220817801 220817801 single base substitution C A intron_variant ESAD-UK 1 220818670 220818670 single base substitution A C intron_variant ESAD-UK 1 220818954 220818954 single base substitution T G intron_variant ESAD-UK 1 220819832 220819832 single base substitution T G intron_variant ESAD-UK 1 220820959 220820959 single base substitution A C intron_variant ESAD-UK 1 220821250 220821250 single base substitution G A intron_variant ESAD-UK 1 220821519 220821519 single base substitution T G intron_variant ESAD-UK 1 220821686 220821686 single base substitution T G intron_variant ESAD-UK 1 220822288 220822288 single base substitution G A intron_variant ESAD-UK 1 220822579 220822579 single base substitution T G intron_variant ESAD-UK 1 220822580 220822580 single base substitution T G intron_variant ESAD-UK 1 220822581 220822581 insertion of <=200bp - G intron_variant ESAD-UK 1 220824456 220824456 insertion of <=200bp - A intron_variant ESAD-UK 1 220825805 220825805 single base substitution G A intron_variant ESAD-UK 1 220826293 220826293 single base substitution T C intron_variant ESAD-UK 1 220826387 220826387 single base substitution A T intron_variant ESAD-UK 1 220826770 220826770 single base substitution T C intron_variant ESAD-UK 1 220827924 220827924 single base substitution T G intron_variant ESAD-UK 1 220828835 220828835 single base substitution T G intron_variant ESAD-UK 1 220829615 220829615 single base substitution C G intron_variant ESAD-UK 1 220829892 220829892 single base substitution G A intron_variant ESAD-UK 1 220830131 220830131 single base substitution T A intron_variant ESAD-UK 1 220830199 220830199 single base substitution G A intron_variant ESAD-UK 1 220830381 220830381 single base substitution T C intron_variant ESAD-UK 1 220831825 220831825 single base substitution A G intron_variant ESAD-UK 1 220833568 220833568 single base substitution A C intron_variant ESAD-UK 1 220833899 220833899 single base substitution C T intron_variant ESAD-UK 1 220834095 220834095 single base substitution A C intron_variant ESAD-UK 1 220834941 220834941 single base substitution T A intron_variant ESAD-UK 1 220835746 220835746 single base substitution T C 3_prime_UTR_variant ESAD-UK 1 220836350 220836350 single base substitution G T 3_prime_UTR_variant ESAD-UK 1 220836350 220836350 single base substitution G T downstream_gene_variant ESAD-UK 1 220838203 220838203 insertion of <=200bp - AG downstream_gene_variant ESAD-UK 1 220838957 220838957 insertion of <=200bp - A downstream_gene_variant ESAD-UK 1 220839266 220839266 single base substitution C A downstream_gene_variant ESAD-UK 1 220840589 220840589 single base substitution T C downstream_gene_variant ESAD-UK 1 220840849 220840849 single base substitution A C downstream_gene_variant ESCA-CN 1 220773039 220773039 single base substitution G C intron_variant ESCA-CN 1 220789355 220789355 single base substitution A T intron_variant ESCA-CN 1 220808686 220808686 single base substitution C T intron_variant ESCA-CN 1 220823981 220823981 single base substitution G T missense_variant G362V 1085G>T ESCA-CN 1 220823981 220823981 single base substitution G T missense_variant G475V 1424G>T ESCA-CN 1 220823981 220823981 single base substitution G T missense_variant G497V 1490G>T ESCA-CN 1 220826775 220826775 single base substitution T C intron_variant KIRC-US 1 220752837 220752837 single base substitution A G 5_prime_UTR_variant KIRC-US 1 220752837 220752837 single base substitution A G exon_variant KIRC-US 1 220752837 220752837 single base substitution A G missense_variant T65A 193A>G KIRC-US 1 220835248 220835248 single base substitution A G missense_variant S560G 1678A>G KIRC-US 1 220835248 220835248 single base substitution A G missense_variant S673G 2017A>G KIRC-US 1 220835248 220835248 single base substitution A G missense_variant S710G 2128A>G KIRC-US 1 220835299 220835299 single base substitution G T missense_variant A577S 1729G>T KIRC-US 1 220835299 220835299 single base substitution G T missense_variant A690S 2068G>T KIRC-US 1 220835299 220835299 single base substitution G T missense_variant A727S 2179G>T LAML-KR 1 220708373 220708373 single base substitution T A intron_variant LAML-KR 1 220735194 220735194 single base substitution T A intron_variant LAML-KR 1 220791954 220791954 single base substitution G A intron_variant LAML-KR 1 220826347 220826347 single base substitution A G intron_variant LGG-US 1 220791711 220791711 single base substitution T C synonymous_variant S182S 546T>C LGG-US 1 220791711 220791711 single base substitution T C synonymous_variant S204S 612T>C LGG-US 1 220791711 220791711 single base substitution T C synonymous_variant S69S 207T>C LGG-US 1 220791991 220791991 single base substitution G A missense_variant R133Q 398G>A LGG-US 1 220791991 220791991 single base substitution G A missense_variant R246Q 737G>A LGG-US 1 220791991 220791991 single base substitution G A missense_variant R268Q 803G>A LICA-CN 1 220823992 220823992 single base substitution A T stop_gained R366* 1096A>T LICA-CN 1 220823992 220823992 single base substitution A T stop_gained R479* 1435A>T LICA-CN 1 220823992 220823992 single base substitution A T stop_gained R501* 1501A>T LICA-CN 1 220825425 220825425 single base substitution A T missense_variant T422S 1264A>T LICA-CN 1 220825425 220825425 single base substitution A T missense_variant T535S 1603A>T LICA-CN 1 220825425 220825425 single base substitution A T missense_variant T557S 1669A>T LICA-CN 1 220826483 220826483 single base substitution A G missense_variant S458G 1372A>G LICA-CN 1 220826483 220826483 single base substitution A G missense_variant S571G 1711A>G LICA-CN 1 220826483 220826483 single base substitution A G missense_variant S593G 1777A>G LICA-FR 1 220710180 220710180 single base substitution G A intron_variant LICA-FR 1 220715967 220715967 single base substitution T C intron_variant LICA-FR 1 220716325 220716325 single base substitution C A intron_variant LICA-FR 1 220718606 220718627 deletion of <=200bp TGAGATTAGGCAGGGCCTTACA - intron_variant LICA-FR 1 220729881 220729881 single base substitution T C intron_variant LICA-FR 1 220742989 220742989 single base substitution T A intron_variant LICA-FR 1 220759354 220759354 insertion of <=200bp - CGCGCG intron_variant LICA-FR 1 220772903 220772903 single base substitution T C intron_variant LICA-FR 1 220776723 220776723 single base substitution A G intron_variant LICA-FR 1 220781603 220781603 single base substitution C T intron_variant LICA-FR 1 220784983 220784983 single base substitution G A intron_variant LICA-FR 1 220786039 220786039 single base substitution T A intron_variant LICA-FR 1 220787539 220787539 single base substitution G A intron_variant LICA-FR 1 220791803 220791803 single base substitution G A missense_variant G100E 299G>A LICA-FR 1 220791803 220791803 single base substitution G A missense_variant G213E 638G>A LICA-FR 1 220791803 220791803 single base substitution G A missense_variant G235E 704G>A LICA-FR 1 220820576 220820576 single base substitution G A intron_variant LICA-FR 1 220821687 220821687 single base substitution T C intron_variant LICA-FR 1 220825366 220825366 single base substitution G C missense_variant G402A 1205G>C LICA-FR 1 220825366 220825366 single base substitution G C missense_variant G515A 1544G>C LICA-FR 1 220825366 220825366 single base substitution G C missense_variant G537A 1610G>C LICA-FR 1 220825479 220825479 single base substitution G T missense_variant A440S 1318G>T LICA-FR 1 220825479 220825479 single base substitution G T missense_variant A553S 1657G>T LICA-FR 1 220825479 220825479 single base substitution G T missense_variant A575S 1723G>T LICA-FR 1 220826449 220826449 single base substitution C T synonymous_variant T446T 1338C>T LICA-FR 1 220826449 220826449 single base substitution C T synonymous_variant T559T 1677C>T LICA-FR 1 220826449 220826449 single base substitution C T synonymous_variant T581T 1743C>T LICA-FR 1 220835463 220835463 single base substitution C T synonymous_variant A631A 1893C>T LICA-FR 1 220835463 220835463 single base substitution C T synonymous_variant A744A 2232C>T LICA-FR 1 220835463 220835463 single base substitution C T synonymous_variant A781A 2343C>T LICA-FR 1 220837415 220837415 single base substitution T C 3_prime_UTR_variant LICA-FR 1 220837415 220837415 single base substitution T C downstream_gene_variant LIHC-US 1 220791830 220791830 single base substitution G T missense_variant G109V 326G>T LIHC-US 1 220791830 220791830 single base substitution G T missense_variant G222V 665G>T LIHC-US 1 220791830 220791830 single base substitution G T missense_variant G244V 731G>T LIHC-US 1 220826560 220826560 single base substitution G A synonymous_variant Q483Q 1449G>A LIHC-US 1 220826560 220826560 single base substitution G A synonymous_variant Q596Q 1788G>A LIHC-US 1 220826560 220826560 single base substitution G A synonymous_variant Q618Q 1854G>A LINC-JP 1 220702258 220702258 single base substitution C T intron_variant LINC-JP 1 220706713 220706713 insertion of <=200bp - T intron_variant LINC-JP 1 220709744 220709744 deletion of <=200bp T - intron_variant LINC-JP 1 220719999 220719999 single base substitution C T intron_variant LINC-JP 1 220720337 220720337 single base substitution G A intron_variant LINC-JP 1 220729232 220729232 single base substitution T A intron_variant LINC-JP 1 220759045 220759045 single base substitution C G intron_variant LINC-JP 1 220763713 220763713 single base substitution A T intron_variant LINC-JP 1 220769347 220769347 single base substitution A G intron_variant LINC-JP 1 220774655 220774655 single base substitution G T intron_variant LINC-JP 1 220787816 220787816 single base substitution C A intron_variant LINC-JP 1 220789178 220789178 single base substitution A G intron_variant LINC-JP 1 220792265 220792265 single base substitution G T intron_variant LINC-JP 1 220795682 220795682 single base substitution C T intron_variant LINC-JP 1 220805080 220805080 single base substitution G A intron_variant LINC-JP 1 220808555 220808555 single base substitution G T intron_variant LINC-JP 1 220808745 220808745 single base substitution G A missense_variant G249R 745G>A LINC-JP 1 220808745 220808745 single base substitution G A missense_variant G362R 1084G>A LINC-JP 1 220808745 220808745 single base substitution G A missense_variant G384R 1150G>A LINC-JP 1 220816709 220816709 single base substitution G A intron_variant LINC-JP 1 220818508 220818508 single base substitution A G intron_variant LINC-JP 1 220822865 220822865 single base substitution T C intron_variant LINC-JP 1 220823279 220823279 single base substitution T C intron_variant LINC-JP 1 220829823 220829823 single base substitution C G intron_variant LINC-JP 1 220839226 220839226 single base substitution G T downstream_gene_variant LINC-JP 1 220839775 220839775 single base substitution A G downstream_gene_variant LIRI-JP 1 220696936 220696936 single base substitution T C upstream_gene_variant LIRI-JP 1 220699113 220699113 single base substitution A C upstream_gene_variant LIRI-JP 1 220702186 220702186 single base substitution C T 5_prime_UTR_variant LIRI-JP 1 220702186 220702186 single base substitution C T missense_variant P8S 22C>T LIRI-JP 1 220702186 220702186 single base substitution C T upstream_gene_variant LIRI-JP 1 220702510 220702510 single base substitution G A intron_variant LIRI-JP 1 220707418 220707418 single base substitution T C intron_variant LIRI-JP 1 220708663 220708663 single base substitution T C intron_variant LIRI-JP 1 220709387 220709387 single base substitution G A intron_variant LIRI-JP 1 220709822 220709822 single base substitution G A intron_variant LIRI-JP 1 220710074 220710074 single base substitution C G intron_variant LIRI-JP 1 220713070 220713070 single base substitution C T intron_variant LIRI-JP 1 220715647 220715647 single base substitution T A intron_variant LIRI-JP 1 220716823 220716823 single base substitution G A intron_variant LIRI-JP 1 220718856 220718856 single base substitution G C intron_variant LIRI-JP 1 220719215 220719215 single base substitution C T intron_variant LIRI-JP 1 220719251 220719251 single base substitution C T intron_variant LIRI-JP 1 220719469 220719469 single base substitution C T intron_variant LIRI-JP 1 220719492 220719492 single base substitution C A intron_variant LIRI-JP 1 220720762 220720762 single base substitution C A intron_variant LIRI-JP 1 220720843 220720843 single base substitution A C intron_variant LIRI-JP 1 220720889 220720889 single base substitution T A intron_variant LIRI-JP 1 220724365 220724365 single base substitution A G intron_variant LIRI-JP 1 220724752 220724752 single base substitution T A intron_variant LIRI-JP 1 220725452 220725452 single base substitution A C intron_variant LIRI-JP 1 220727478 220727478 single base substitution G A intron_variant LIRI-JP 1 220727525 220727525 single base substitution G A intron_variant LIRI-JP 1 220729530 220729530 single base substitution G C intron_variant LIRI-JP 1 220730032 220730032 single base substitution A G intron_variant LIRI-JP 1 220730376 220730376 single base substitution A G intron_variant LIRI-JP 1 220730856 220730856 single base substitution A G intron_variant LIRI-JP 1 220732725 220732725 single base substitution G C intron_variant LIRI-JP 1 220733471 220733471 single base substitution C T intron_variant LIRI-JP 1 220734546 220734547 deletion of <=200bp AT - intron_variant LIRI-JP 1 220735036 220735036 single base substitution A G intron_variant LIRI-JP 1 220736880 220736880 single base substitution A G intron_variant LIRI-JP 1 220737217 220737217 single base substitution T C intron_variant LIRI-JP 1 220737882 220737882 single base substitution T C intron_variant LIRI-JP 1 220738237 220738237 single base substitution A G intron_variant LIRI-JP 1 220738940 220738940 single base substitution T C intron_variant LIRI-JP 1 220741626 220741626 single base substitution A C intron_variant LIRI-JP 1 220742483 220742483 single base substitution T C intron_variant LIRI-JP 1 220744617 220744617 single base substitution G A intron_variant LIRI-JP 1 220745745 220745745 single base substitution G A intron_variant LIRI-JP 1 220746671 220746671 single base substitution T C intron_variant LIRI-JP 1 220747120 220747120 single base substitution A G intron_variant LIRI-JP 1 220747713 220747713 single base substitution C T intron_variant LIRI-JP 1 220748081 220748081 single base substitution T C intron_variant LIRI-JP 1 220749056 220749056 single base substitution T A intron_variant LIRI-JP 1 220749408 220749408 deletion of <=200bp A - intron_variant LIRI-JP 1 220750789 220750789 single base substitution G A intron_variant LIRI-JP 1 220754624 220754624 single base substitution T C downstream_gene_variant LIRI-JP 1 220754624 220754624 single base substitution T C intron_variant LIRI-JP 1 220754817 220754817 single base substitution C A downstream_gene_variant LIRI-JP 1 220754817 220754817 single base substitution C A intron_variant LIRI-JP 1 220756197 220756197 single base substitution T C downstream_gene_variant LIRI-JP 1 220756197 220756197 single base substitution T C intron_variant LIRI-JP 1 220758726 220758726 single base substitution A G intron_variant LIRI-JP 1 220760305 220760305 single base substitution C T intron_variant LIRI-JP 1 220764142 220764142 single base substitution C T intron_variant LIRI-JP 1 220764144 220764144 single base substitution C T intron_variant LIRI-JP 1 220765004 220765004 single base substitution T C intron_variant LIRI-JP 1 220769903 220769903 single base substitution T C intron_variant LIRI-JP 1 220772964 220772964 single base substitution T C intron_variant LIRI-JP 1 220774514 220774514 single base substitution C A intron_variant LIRI-JP 1 220774796 220774796 single base substitution A G intron_variant LIRI-JP 1 220776134 220776134 single base substitution C A intron_variant LIRI-JP 1 220776506 220776506 single base substitution A C intron_variant LIRI-JP 1 220777972 220777972 single base substitution C T intron_variant LIRI-JP 1 220778419 220778419 single base substitution T A intron_variant LIRI-JP 1 220778916 220778916 single base substitution G T intron_variant LIRI-JP 1 220779085 220779085 single base substitution C T intron_variant LIRI-JP 1 220779639 220779639 single base substitution T C intron_variant LIRI-JP 1 220780030 220780030 single base substitution C G intron_variant LIRI-JP 1 220780749 220780749 single base substitution C T intron_variant LIRI-JP 1 220781586 220781586 single base substitution T C intron_variant LIRI-JP 1 220782133 220782133 single base substitution T C intron_variant LIRI-JP 1 220783759 220783759 single base substitution T C intron_variant LIRI-JP 1 220785016 220785016 single base substitution C T intron_variant LIRI-JP 1 220785499 220785499 single base substitution A G intron_variant LIRI-JP 1 220789745 220789745 single base substitution T C intron_variant LIRI-JP 1 220789799 220789799 single base substitution T C intron_variant LIRI-JP 1 220790060 220790060 single base substitution T A intron_variant LIRI-JP 1 220790339 220790339 single base substitution T C intron_variant LIRI-JP 1 220791117 220791117 single base substitution A G intron_variant LIRI-JP 1 220791189 220791189 single base substitution G A intron_variant LIRI-JP 1 220791794 220791794 single base substitution A C missense_variant K210T 629A>C LIRI-JP 1 220791794 220791794 single base substitution A C missense_variant K232T 695A>C LIRI-JP 1 220791794 220791794 single base substitution A C missense_variant K97T 290A>C LIRI-JP 1 220792601 220792601 single base substitution G C intron_variant LIRI-JP 1 220792773 220792773 single base substitution G A intron_variant LIRI-JP 1 220792788 220792788 single base substitution C T intron_variant LIRI-JP 1 220795399 220795399 single base substitution T C intron_variant LIRI-JP 1 220795645 220795645 single base substitution T C intron_variant LIRI-JP 1 220795854 220795854 single base substitution C T intron_variant LIRI-JP 1 220798021 220798021 single base substitution T C intron_variant LIRI-JP 1 220799775 220799775 single base substitution C A intron_variant LIRI-JP 1 220799792 220799792 single base substitution C A intron_variant LIRI-JP 1 220799793 220799793 single base substitution C T intron_variant LIRI-JP 1 220801288 220801288 single base substitution T C intron_variant LIRI-JP 1 220802139 220802139 single base substitution T C intron_variant LIRI-JP 1 220803115 220803115 single base substitution T C intron_variant LIRI-JP 1 220803117 220803117 single base substitution T C intron_variant LIRI-JP 1 220803793 220803793 single base substitution C G intron_variant LIRI-JP 1 220804530 220804530 single base substitution C G intron_variant LIRI-JP 1 220807631 220807631 deletion of <=200bp T - intron_variant LIRI-JP 1 220807643 220807643 single base substitution A G intron_variant LIRI-JP 1 220808907 220808907 single base substitution G A intron_variant LIRI-JP 1 220809967 220809967 single base substitution T C intron_variant LIRI-JP 1 220810879 220810879 single base substitution G A intron_variant LIRI-JP 1 220811263 220811263 single base substitution A G intron_variant LIRI-JP 1 220811432 220811432 single base substitution A C intron_variant LIRI-JP 1 220813825 220813825 single base substitution G T intron_variant LIRI-JP 1 220813925 220813925 single base substitution A C intron_variant LIRI-JP 1 220814055 220814055 single base substitution C T intron_variant LIRI-JP 1 220814323 220814323 single base substitution A C intron_variant LIRI-JP 1 220815714 220815714 single base substitution A G intron_variant LIRI-JP 1 220818126 220818126 single base substitution C A intron_variant LIRI-JP 1 220820018 220820018 single base substitution A G intron_variant LIRI-JP 1 220821839 220821839 single base substitution G T intron_variant LIRI-JP 1 220822055 220822055 single base substitution A G intron_variant LIRI-JP 1 220823619 220823619 single base substitution G A intron_variant LIRI-JP 1 220826075 220826075 single base substitution T C intron_variant LIRI-JP 1 220826427 220826427 single base substitution T A intron_variant LIRI-JP 1 220826847 220826847 single base substitution G A intron_variant LIRI-JP 1 220827274 220827274 single base substitution C A intron_variant LIRI-JP 1 220827996 220827996 single base substitution A T intron_variant LIRI-JP 1 220828797 220828797 single base substitution C A intron_variant LIRI-JP 1 220829135 220829135 single base substitution C T intron_variant LIRI-JP 1 220832733 220832733 single base substitution C T intron_variant LIRI-JP 1 220833300 220833300 single base substitution T G intron_variant LIRI-JP 1 220833493 220833493 single base substitution C T intron_variant LIRI-JP 1 220834770 220834770 single base substitution T C intron_variant LIRI-JP 1 220835211 220835211 single base substitution G A synonymous_variant P547P 1641G>A LIRI-JP 1 220835211 220835211 single base substitution G A synonymous_variant P660P 1980G>A LIRI-JP 1 220835211 220835211 single base substitution G A synonymous_variant P697P 2091G>A LIRI-JP 1 220835400 220835400 single base substitution C T synonymous_variant C610C 1830C>T LIRI-JP 1 220835400 220835400 single base substitution C T synonymous_variant C723C 2169C>T LIRI-JP 1 220835400 220835400 single base substitution C T synonymous_variant C760C 2280C>T LIRI-JP 1 220835916 220835916 single base substitution T C 3_prime_UTR_variant LIRI-JP 1 220835916 220835916 single base substitution T C downstream_gene_variant LIRI-JP 1 220837495 220837495 single base substitution C A 3_prime_UTR_variant LIRI-JP 1 220837495 220837495 single base substitution C A downstream_gene_variant LIRI-JP 1 220838639 220838639 single base substitution C T downstream_gene_variant LIRI-JP 1 220841268 220841268 single base substitution G T downstream_gene_variant LIRI-JP 1 220841552 220841552 single base substitution G A downstream_gene_variant LIRI-JP 1 220842127 220842127 single base substitution T G downstream_gene_variant LUSC-KR 1 220698711 220698711 single base substitution C G upstream_gene_variant LUSC-KR 1 220698781 220698781 single base substitution A C upstream_gene_variant LUSC-KR 1 220702010 220702010 single base substitution C G 5_prime_UTR_variant LUSC-KR 1 220702010 220702010 single base substitution C G upstream_gene_variant LUSC-KR 1 220711317 220711317 single base substitution T C intron_variant LUSC-KR 1 220712155 220712155 single base substitution T G intron_variant LUSC-KR 1 220712424 220712424 single base substitution T C intron_variant LUSC-KR 1 220717117 220717117 single base substitution G T intron_variant LUSC-KR 1 220720099 220720099 single base substitution G C intron_variant LUSC-KR 1 220725533 220725533 single base substitution A G intron_variant LUSC-KR 1 220729818 220729818 single base substitution G C intron_variant LUSC-KR 1 220745451 220745451 single base substitution G T intron_variant LUSC-KR 1 220745935 220745935 single base substitution G C intron_variant LUSC-KR 1 220755955 220755955 single base substitution C T downstream_gene_variant LUSC-KR 1 220755955 220755955 single base substitution C T intron_variant LUSC-KR 1 220763767 220763767 single base substitution G T intron_variant LUSC-KR 1 220763873 220763873 single base substitution G C intron_variant LUSC-KR 1 220766132 220766132 single base substitution C G intron_variant LUSC-KR 1 220766590 220766590 single base substitution A G intron_variant LUSC-KR 1 220768542 220768542 single base substitution G T intron_variant LUSC-KR 1 220769361 220769361 single base substitution G T intron_variant LUSC-KR 1 220769959 220769959 single base substitution G C intron_variant LUSC-KR 1 220772286 220772286 single base substitution A T intron_variant LUSC-KR 1 220772607 220772607 single base substitution C G intron_variant LUSC-KR 1 220774248 220774248 single base substitution A T intron_variant LUSC-KR 1 220775505 220775505 single base substitution C T intron_variant LUSC-KR 1 220782151 220782151 single base substitution A T intron_variant LUSC-KR 1 220782252 220782252 single base substitution G A intron_variant LUSC-KR 1 220782257 220782257 single base substitution G T intron_variant LUSC-KR 1 220782492 220782492 single base substitution G T intron_variant LUSC-KR 1 220791584 220791584 single base substitution A T intron_variant LUSC-KR 1 220791978 220791978 single base substitution G A missense_variant E129K 385G>A LUSC-KR 1 220791978 220791978 single base substitution G A missense_variant E242K 724G>A LUSC-KR 1 220791978 220791978 single base substitution G A missense_variant E264K 790G>A LUSC-KR 1 220799596 220799596 single base substitution G C intron_variant LUSC-KR 1 220801431 220801431 single base substitution C G intron_variant LUSC-KR 1 220801961 220801961 single base substitution C T intron_variant LUSC-KR 1 220803217 220803217 single base substitution A C intron_variant LUSC-KR 1 220805984 220805984 single base substitution A C intron_variant LUSC-KR 1 220806095 220806095 single base substitution A G intron_variant LUSC-KR 1 220808685 220808685 single base substitution G T intron_variant LUSC-KR 1 220809350 220809350 single base substitution A G synonymous_variant K349K 1047A>G LUSC-KR 1 220809350 220809350 single base substitution A G synonymous_variant K462K 1386A>G LUSC-KR 1 220809350 220809350 single base substitution A G synonymous_variant K484K 1452A>G LUSC-KR 1 220814206 220814206 single base substitution C T intron_variant LUSC-KR 1 220815428 220815428 single base substitution T G intron_variant LUSC-KR 1 220815915 220815915 single base substitution C T intron_variant LUSC-KR 1 220817801 220817801 single base substitution C A intron_variant LUSC-KR 1 220818611 220818611 single base substitution C A intron_variant LUSC-KR 1 220821234 220821234 single base substitution G T intron_variant LUSC-KR 1 220822581 220822581 single base substitution T G intron_variant LUSC-KR 1 220823371 220823371 single base substitution G T intron_variant LUSC-KR 1 220825315 220825315 single base substitution T A intron_variant LUSC-KR 1 220835018 220835018 single base substitution C T intron_variant LUSC-KR 1 220836586 220836586 single base substitution C T 3_prime_UTR_variant LUSC-KR 1 220836586 220836586 single base substitution C T downstream_gene_variant LUSC-KR 1 220839974 220839974 single base substitution A G downstream_gene_variant LUSC-US 1 220773197 220773197 single base substitution C T intron_variant LUSC-US 1 220773197 220773197 single base substitution C T missense_variant A139V 416C>T LUSC-US 1 220773197 220773197 single base substitution C T missense_variant A4V 11C>T LUSC-US 1 220777445 220777445 single base substitution T G missense_variant M132R 395T>G LUSC-US 1 220777445 220777445 single base substitution T G missense_variant M154R 461T>G LUSC-US 1 220777445 220777445 single base substitution T G missense_variant M19R 56T>G LUSC-US 1 220791715 220791715 single base substitution G A missense_variant E184K 550G>A LUSC-US 1 220791715 220791715 single base substitution G A missense_variant E206K 616G>A LUSC-US 1 220791715 220791715 single base substitution G A missense_variant E71K 211G>A LUSC-US 1 220792066 220792066 single base substitution T C missense_variant V158A 473T>C LUSC-US 1 220792066 220792066 single base substitution T C missense_variant V271A 812T>C LUSC-US 1 220792066 220792066 single base substitution T C missense_variant V293A 878T>C LUSC-US 1 220809369 220809369 single base substitution G C splice_donor_variant LUSC-US 1 220835153 220835153 single base substitution G A splice_acceptor_variant MALY-DE 1 220698868 220698868 deletion of <=200bp A - upstream_gene_variant MALY-DE 1 220699048 220699048 single base substitution T C upstream_gene_variant MALY-DE 1 220709744 220709744 deletion of <=200bp T - intron_variant MALY-DE 1 220710918 220710918 insertion of <=200bp - G intron_variant MALY-DE 1 220714280 220714280 insertion of <=200bp - C intron_variant MALY-DE 1 220732920 220732920 single base substitution T A intron_variant MALY-DE 1 220734882 220734882 single base substitution A T intron_variant MALY-DE 1 220736592 220736592 single base substitution C A intron_variant MALY-DE 1 220739054 220739054 single base substitution T G intron_variant MALY-DE 1 220740362 220740362 single base substitution C T intron_variant MALY-DE 1 220748528 220748528 single base substitution T C intron_variant MALY-DE 1 220750057 220750057 single base substitution C A exon_variant MALY-DE 1 220750057 220750057 single base substitution C A intron_variant MALY-DE 1 220752908 220752908 single base substitution G A downstream_gene_variant MALY-DE 1 220752908 220752908 single base substitution G A intron_variant MALY-DE 1 220753818 220753818 deletion of <=200bp A - downstream_gene_variant MALY-DE 1 220753818 220753818 deletion of <=200bp A - intron_variant MALY-DE 1 220761689 220761689 single base substitution A G intron_variant MALY-DE 1 220765561 220765561 single base substitution C T intron_variant MALY-DE 1 220771538 220771538 single base substitution A T intron_variant MALY-DE 1 220771631 220771631 deletion of <=200bp T - intron_variant MALY-DE 1 220771631 220771631 insertion of <=200bp - T intron_variant MALY-DE 1 220772173 220772173 single base substitution T C intron_variant MALY-DE 1 220772367 220772367 deletion of <=200bp A - intron_variant MALY-DE 1 220774217 220774217 single base substitution G A intron_variant MALY-DE 1 220774498 220774498 single base substitution G A intron_variant MALY-DE 1 220776379 220776379 single base substitution T G intron_variant MALY-DE 1 220779932 220779932 single base substitution A C intron_variant MALY-DE 1 220788752 220788752 single base substitution T G intron_variant MALY-DE 1 220791256 220791256 single base substitution T A intron_variant MALY-DE 1 220794096 220794096 single base substitution T G intron_variant MALY-DE 1 220802778 220802778 single base substitution G A intron_variant MALY-DE 1 220803615 220803615 single base substitution T C intron_variant MALY-DE 1 220807062 220807062 single base substitution C T intron_variant MALY-DE 1 220826507 220826507 single base substitution C T missense_variant R466W 1396C>T MALY-DE 1 220826507 220826507 single base substitution C T missense_variant R579W 1735C>T MALY-DE 1 220826507 220826507 single base substitution C T missense_variant R601W 1801C>T MALY-DE 1 220827403 220827403 single base substitution C G intron_variant MALY-DE 1 220830199 220830199 single base substitution G A intron_variant MALY-DE 1 220836726 220836726 single base substitution C T 3_prime_UTR_variant MALY-DE 1 220836726 220836726 single base substitution C T downstream_gene_variant MALY-DE 1 220837177 220837177 single base substitution A G 3_prime_UTR_variant MALY-DE 1 220837177 220837177 single base substitution A G downstream_gene_variant MALY-DE 1 220841317 220841317 deletion of <=200bp A - downstream_gene_variant MELA-AU 1 220696741 220696741 single base substitution T C upstream_gene_variant MELA-AU 1 220696869 220696869 single base substitution C T upstream_gene_variant MELA-AU 1 220697252 220697252 single base substitution C T upstream_gene_variant MELA-AU 1 220697281 220697281 single base substitution G A upstream_gene_variant MELA-AU 1 220697356 220697356 single base substitution C T upstream_gene_variant MELA-AU 1 220697357 220697357 single base substitution C T upstream_gene_variant MELA-AU 1 220697422 220697422 single base substitution C T upstream_gene_variant MELA-AU 1 220697628 220697628 single base substitution C T upstream_gene_variant MELA-AU 1 220697638 220697638 single base substitution C T upstream_gene_variant MELA-AU 1 220697925 220697925 single base substitution T C upstream_gene_variant MELA-AU 1 220698304 220698304 single base substitution C T upstream_gene_variant MELA-AU 1 220698617 220698617 single base substitution C T upstream_gene_variant MELA-AU 1 220698721 220698721 single base substitution C T upstream_gene_variant MELA-AU 1 220698723 220698723 single base substitution T A upstream_gene_variant MELA-AU 1 220698816 220698816 single base substitution C T upstream_gene_variant MELA-AU 1 220698894 220698894 single base substitution C T upstream_gene_variant MELA-AU 1 220699208 220699209 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 1 220699458 220699458 single base substitution G A upstream_gene_variant MELA-AU 1 220700332 220700332 single base substitution G A upstream_gene_variant MELA-AU 1 220700836 220700836 single base substitution G A upstream_gene_variant MELA-AU 1 220701397 220701397 single base substitution G A upstream_gene_variant MELA-AU 1 220701977 220701978 multiple base substitution (>=2bp and <=200bp) CC TT 5_prime_UTR_variant MELA-AU 1 220701977 220701978 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 220702299 220702299 single base substitution C T intron_variant MELA-AU 1 220702956 220702956 single base substitution C T intron_variant MELA-AU 1 220703163 220703163 single base substitution T G intron_variant MELA-AU 1 220704361 220704361 single base substitution G A intron_variant MELA-AU 1 220704655 220704655 deletion of <=200bp A - intron_variant MELA-AU 1 220704708 220704708 single base substitution C T intron_variant MELA-AU 1 220704891 220704891 single base substitution C T intron_variant MELA-AU 1 220705066 220705066 single base substitution T G intron_variant MELA-AU 1 220705281 220705281 single base substitution G A intron_variant MELA-AU 1 220705288 220705288 single base substitution C T intron_variant MELA-AU 1 220705335 220705335 single base substitution T A intron_variant MELA-AU 1 220705528 220705528 single base substitution C T intron_variant MELA-AU 1 220706019 220706019 single base substitution C T intron_variant MELA-AU 1 220706386 220706386 single base substitution G A intron_variant MELA-AU 1 220706731 220706731 single base substitution C T intron_variant MELA-AU 1 220706833 220706833 single base substitution C T intron_variant MELA-AU 1 220707055 220707055 single base substitution C T intron_variant MELA-AU 1 220707268 220707268 single base substitution C T intron_variant MELA-AU 1 220707356 220707356 single base substitution T C intron_variant MELA-AU 1 220707360 220707360 single base substitution C T intron_variant MELA-AU 1 220707392 220707392 single base substitution C A intron_variant MELA-AU 1 220707630 220707630 single base substitution C T intron_variant MELA-AU 1 220707785 220707785 single base substitution C T intron_variant MELA-AU 1 220707793 220707793 single base substitution C G intron_variant MELA-AU 1 220708353 220708353 single base substitution C T intron_variant MELA-AU 1 220708661 220708661 single base substitution G A intron_variant MELA-AU 1 220708867 220708867 single base substitution C T intron_variant MELA-AU 1 220708936 220708936 single base substitution A T intron_variant MELA-AU 1 220708956 220708956 single base substitution C T intron_variant MELA-AU 1 220709080 220709080 single base substitution C T intron_variant MELA-AU 1 220709540 220709540 single base substitution C T intron_variant MELA-AU 1 220709757 220709757 single base substitution C T intron_variant MELA-AU 1 220709836 220709836 single base substitution A G intron_variant MELA-AU 1 220709843 220709843 single base substitution C T intron_variant MELA-AU 1 220710119 220710119 single base substitution C T intron_variant MELA-AU 1 220710188 220710188 single base substitution G A intron_variant MELA-AU 1 220710349 220710349 single base substitution C T intron_variant MELA-AU 1 220710766 220710766 single base substitution T G intron_variant MELA-AU 1 220711798 220711798 single base substitution T C intron_variant MELA-AU 1 220711897 220711897 single base substitution C T intron_variant MELA-AU 1 220712077 220712077 single base substitution C T intron_variant MELA-AU 1 220712108 220712108 single base substitution C T intron_variant MELA-AU 1 220712360 220712360 single base substitution G A intron_variant MELA-AU 1 220712382 220712382 single base substitution C T intron_variant MELA-AU 1 220712968 220712968 single base substitution T G intron_variant MELA-AU 1 220712969 220712969 single base substitution G A intron_variant MELA-AU 1 220712989 220712989 single base substitution C T intron_variant MELA-AU 1 220713083 220713083 single base substitution C T intron_variant MELA-AU 1 220713128 220713128 single base substitution C T intron_variant MELA-AU 1 220713183 220713183 single base substitution C T intron_variant MELA-AU 1 220713261 220713261 single base substitution C T intron_variant MELA-AU 1 220713354 220713354 single base substitution C T intron_variant MELA-AU 1 220713707 220713707 single base substitution T C intron_variant MELA-AU 1 220713804 220713804 single base substitution A G intron_variant MELA-AU 1 220713925 220713925 single base substitution C T intron_variant MELA-AU 1 220714310 220714310 single base substitution C T intron_variant MELA-AU 1 220714369 220714369 single base substitution C T intron_variant MELA-AU 1 220714508 220714508 single base substitution C T intron_variant MELA-AU 1 220714589 220714589 single base substitution G A intron_variant MELA-AU 1 220715277 220715277 single base substitution C A intron_variant MELA-AU 1 220715663 220715663 single base substitution C T intron_variant MELA-AU 1 220716271 220716271 single base substitution C T intron_variant MELA-AU 1 220716386 220716386 single base substitution G A intron_variant MELA-AU 1 220716534 220716534 single base substitution C T intron_variant MELA-AU 1 220716665 220716665 single base substitution A G intron_variant MELA-AU 1 220716976 220716976 single base substitution C T intron_variant MELA-AU 1 220717001 220717001 single base substitution C T intron_variant MELA-AU 1 220717063 220717063 single base substitution G A intron_variant MELA-AU 1 220717232 220717232 single base substitution G A intron_variant MELA-AU 1 220717396 220717396 single base substitution G A intron_variant MELA-AU 1 220717408 220717408 single base substitution G A intron_variant MELA-AU 1 220717730 220717730 single base substitution T C intron_variant MELA-AU 1 220718013 220718013 single base substitution C T intron_variant MELA-AU 1 220719255 220719255 single base substitution C T intron_variant MELA-AU 1 220719256 220719256 single base substitution C T intron_variant MELA-AU 1 220719277 220719277 single base substitution C T intron_variant MELA-AU 1 220719445 220719445 single base substitution C T intron_variant MELA-AU 1 220719486 220719486 single base substitution C T intron_variant MELA-AU 1 220719573 220719573 single base substitution C T intron_variant MELA-AU 1 220719652 220719652 single base substitution C G intron_variant MELA-AU 1 220719775 220719775 single base substitution G A intron_variant MELA-AU 1 220719829 220719829 single base substitution C T intron_variant MELA-AU 1 220719859 220719859 single base substitution G A intron_variant MELA-AU 1 220720422 220720422 single base substitution C T intron_variant MELA-AU 1 220720970 220720970 single base substitution G A intron_variant MELA-AU 1 220720997 220720997 single base substitution C T intron_variant MELA-AU 1 220721016 220721016 single base substitution C T intron_variant MELA-AU 1 220721195 220721195 single base substitution A G intron_variant MELA-AU 1 220721257 220721257 single base substitution C T intron_variant MELA-AU 1 220721357 220721357 single base substitution G A intron_variant MELA-AU 1 220721383 220721383 single base substitution C T intron_variant MELA-AU 1 220721585 220721585 single base substitution C T intron_variant MELA-AU 1 220721599 220721599 single base substitution T G intron_variant MELA-AU 1 220722208 220722208 single base substitution G A intron_variant MELA-AU 1 220722451 220722451 single base substitution T A intron_variant MELA-AU 1 220722649 220722649 single base substitution T A intron_variant MELA-AU 1 220722854 220722854 single base substitution C T intron_variant MELA-AU 1 220723534 220723534 single base substitution C T intron_variant MELA-AU 1 220723655 220723655 single base substitution G A intron_variant MELA-AU 1 220723736 220723736 single base substitution C T intron_variant MELA-AU 1 220723758 220723758 single base substitution G A intron_variant MELA-AU 1 220723765 220723765 single base substitution G A intron_variant MELA-AU 1 220723781 220723781 single base substitution A G intron_variant MELA-AU 1 220724735 220724735 single base substitution G A intron_variant MELA-AU 1 220724746 220724746 single base substitution C T intron_variant MELA-AU 1 220724844 220724844 single base substitution C T intron_variant MELA-AU 1 220725029 220725029 deletion of <=200bp A - intron_variant MELA-AU 1 220725266 220725267 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 220725337 220725337 single base substitution A T intron_variant MELA-AU 1 220725434 220725434 single base substitution T C intron_variant MELA-AU 1 220725615 220725615 single base substitution G A intron_variant MELA-AU 1 220725646 220725646 single base substitution G A intron_variant MELA-AU 1 220725705 220725705 single base substitution C T intron_variant MELA-AU 1 220725912 220725912 single base substitution C T intron_variant MELA-AU 1 220726257 220726257 single base substitution G A intron_variant MELA-AU 1 220726321 220726321 single base substitution C T intron_variant MELA-AU 1 220726875 220726875 single base substitution C T intron_variant MELA-AU 1 220726927 220726927 single base substitution G A intron_variant MELA-AU 1 220727158 220727158 single base substitution G A intron_variant MELA-AU 1 220727174 220727174 single base substitution C T intron_variant MELA-AU 1 220727447 220727447 single base substitution C A intron_variant MELA-AU 1 220727466 220727466 single base substitution G A intron_variant MELA-AU 1 220727612 220727612 single base substitution G A intron_variant MELA-AU 1 220728064 220728064 single base substitution C T intron_variant MELA-AU 1 220728184 220728184 single base substitution G C intron_variant MELA-AU 1 220728404 220728404 single base substitution C T intron_variant MELA-AU 1 220728651 220728651 single base substitution A G intron_variant MELA-AU 1 220728710 220728710 single base substitution A C intron_variant MELA-AU 1 220728720 220728720 single base substitution G A intron_variant MELA-AU 1 220728721 220728722 multiple base substitution (>=2bp and <=200bp) GG TA intron_variant MELA-AU 1 220729548 220729548 single base substitution C T intron_variant MELA-AU 1 220729562 220729562 single base substitution T C intron_variant MELA-AU 1 220729863 220729863 single base substitution C T intron_variant MELA-AU 1 220730541 220730541 single base substitution A G intron_variant MELA-AU 1 220730546 220730546 single base substitution G A intron_variant MELA-AU 1 220730578 220730578 single base substitution T G intron_variant MELA-AU 1 220730612 220730612 single base substitution C T intron_variant MELA-AU 1 220730625 220730625 single base substitution G A intron_variant MELA-AU 1 220730696 220730696 single base substitution C T intron_variant MELA-AU 1 220730770 220730770 single base substitution A T intron_variant MELA-AU 1 220731658 220731658 single base substitution C T intron_variant MELA-AU 1 220732374 220732374 single base substitution G A intron_variant MELA-AU 1 220732440 220732440 single base substitution G A intron_variant MELA-AU 1 220732481 220732481 single base substitution G A intron_variant MELA-AU 1 220732791 220732791 single base substitution C T intron_variant MELA-AU 1 220733028 220733029 multiple base substitution (>=2bp and <=200bp) TT GG intron_variant MELA-AU 1 220733034 220733034 single base substitution G A intron_variant MELA-AU 1 220733450 220733450 single base substitution C T intron_variant MELA-AU 1 220733461 220733461 single base substitution G A intron_variant MELA-AU 1 220733486 220733486 single base substitution C T intron_variant MELA-AU 1 220733510 220733510 single base substitution G A intron_variant MELA-AU 1 220733530 220733530 single base substitution C T intron_variant MELA-AU 1 220733550 220733550 single base substitution C T intron_variant MELA-AU 1 220733633 220733633 single base substitution C T intron_variant MELA-AU 1 220733684 220733684 single base substitution C T intron_variant MELA-AU 1 220733833 220733833 single base substitution T C intron_variant MELA-AU 1 220733873 220733873 single base substitution G A intron_variant MELA-AU 1 220734259 220734259 single base substitution A T intron_variant MELA-AU 1 220734700 220734700 single base substitution G A intron_variant MELA-AU 1 220735352 220735352 single base substitution T C intron_variant MELA-AU 1 220736018 220736018 single base substitution C T intron_variant MELA-AU 1 220736142 220736142 single base substitution G A intron_variant MELA-AU 1 220736197 220736197 single base substitution G A intron_variant MELA-AU 1 220736259 220736259 single base substitution C T intron_variant MELA-AU 1 220736361 220736361 single base substitution C T intron_variant MELA-AU 1 220736509 220736509 single base substitution T C intron_variant MELA-AU 1 220736618 220736618 single base substitution C T intron_variant MELA-AU 1 220736678 220736678 single base substitution C T intron_variant MELA-AU 1 220736840 220736840 single base substitution C T intron_variant MELA-AU 1 220737469 220737469 single base substitution G A intron_variant MELA-AU 1 220738667 220738667 single base substitution G A intron_variant MELA-AU 1 220738906 220738906 single base substitution G A intron_variant MELA-AU 1 220739059 220739059 single base substitution C T intron_variant MELA-AU 1 220739630 220739630 single base substitution G A intron_variant MELA-AU 1 220739649 220739649 single base substitution G A intron_variant MELA-AU 1 220740333 220740333 single base substitution C T intron_variant MELA-AU 1 220740362 220740362 single base substitution C T intron_variant MELA-AU 1 220740658 220740658 single base substitution C T intron_variant MELA-AU 1 220740878 220740878 single base substitution A G intron_variant MELA-AU 1 220741143 220741143 single base substitution C T intron_variant MELA-AU 1 220741232 220741232 single base substitution C T intron_variant MELA-AU 1 220741241 220741241 single base substitution C T intron_variant MELA-AU 1 220741657 220741657 single base substitution C T intron_variant MELA-AU 1 220741863 220741863 single base substitution C T intron_variant MELA-AU 1 220741910 220741910 single base substitution G A intron_variant MELA-AU 1 220742423 220742423 single base substitution C T intron_variant MELA-AU 1 220743082 220743082 single base substitution G A intron_variant MELA-AU 1 220743559 220743559 single base substitution T G intron_variant MELA-AU 1 220744082 220744082 single base substitution C T intron_variant MELA-AU 1 220744109 220744109 single base substitution C T intron_variant MELA-AU 1 220744284 220744284 single base substitution C T intron_variant MELA-AU 1 220744347 220744347 single base substitution G T intron_variant MELA-AU 1 220744675 220744675 single base substitution C T intron_variant MELA-AU 1 220745012 220745012 single base substitution A G intron_variant MELA-AU 1 220745046 220745046 single base substitution A G intron_variant MELA-AU 1 220745052 220745052 single base substitution C T intron_variant MELA-AU 1 220745452 220745452 single base substitution G A intron_variant MELA-AU 1 220745783 220745783 single base substitution C T intron_variant MELA-AU 1 220745816 220745816 single base substitution C T intron_variant MELA-AU 1 220745830 220745830 single base substitution C T intron_variant MELA-AU 1 220746279 220746279 single base substitution G A intron_variant MELA-AU 1 220746397 220746397 single base substitution C T intron_variant MELA-AU 1 220746556 220746556 single base substitution C T intron_variant MELA-AU 1 220746576 220746576 single base substitution A C intron_variant MELA-AU 1 220746590 220746590 single base substitution C A intron_variant MELA-AU 1 220746593 220746593 single base substitution C T intron_variant MELA-AU 1 220747094 220747094 single base substitution C A intron_variant MELA-AU 1 220747313 220747313 single base substitution C T intron_variant MELA-AU 1 220747537 220747537 single base substitution G A intron_variant MELA-AU 1 220747610 220747610 single base substitution G A intron_variant MELA-AU 1 220747762 220747762 single base substitution C T intron_variant MELA-AU 1 220747763 220747763 single base substitution C T intron_variant MELA-AU 1 220747786 220747786 single base substitution C T intron_variant MELA-AU 1 220747824 220747824 single base substitution C T intron_variant MELA-AU 1 220747905 220747905 single base substitution G A intron_variant MELA-AU 1 220747947 220747947 single base substitution C T intron_variant MELA-AU 1 220748240 220748240 single base substitution T C intron_variant MELA-AU 1 220748576 220748576 single base substitution G T intron_variant MELA-AU 1 220748610 220748610 single base substitution G A intron_variant MELA-AU 1 220748729 220748729 single base substitution G A intron_variant MELA-AU 1 220749098 220749098 single base substitution C T intron_variant MELA-AU 1 220749136 220749136 single base substitution C T intron_variant MELA-AU 1 220749434 220749434 single base substitution C T intron_variant MELA-AU 1 220749473 220749473 single base substitution G A intron_variant MELA-AU 1 220749493 220749493 single base substitution G T intron_variant MELA-AU 1 220749501 220749501 single base substitution C T intron_variant MELA-AU 1 220750373 220750373 single base substitution G A intron_variant MELA-AU 1 220750658 220750658 single base substitution C T intron_variant MELA-AU 1 220750698 220750698 single base substitution G A intron_variant MELA-AU 1 220751047 220751047 single base substitution C T intron_variant MELA-AU 1 220751274 220751274 single base substitution C T intron_variant MELA-AU 1 220751493 220751493 single base substitution C T intron_variant MELA-AU 1 220751652 220751652 single base substitution G A intron_variant MELA-AU 1 220752087 220752087 single base substitution G A intron_variant MELA-AU 1 220752161 220752161 single base substitution C T intron_variant MELA-AU 1 220752295 220752295 single base substitution C T intron_variant MELA-AU 1 220752516 220752516 single base substitution T C intron_variant MELA-AU 1 220752917 220752917 single base substitution C T downstream_gene_variant MELA-AU 1 220752917 220752917 single base substitution C T intron_variant MELA-AU 1 220753363 220753363 single base substitution C T downstream_gene_variant MELA-AU 1 220753363 220753363 single base substitution C T intron_variant MELA-AU 1 220753898 220753898 single base substitution A G downstream_gene_variant MELA-AU 1 220753898 220753898 single base substitution A G intron_variant MELA-AU 1 220753913 220753913 single base substitution T A downstream_gene_variant MELA-AU 1 220753913 220753913 single base substitution T A intron_variant MELA-AU 1 220754090 220754090 single base substitution C T downstream_gene_variant MELA-AU 1 220754090 220754090 single base substitution C T intron_variant MELA-AU 1 220754259 220754259 single base substitution A T downstream_gene_variant MELA-AU 1 220754259 220754259 single base substitution A T intron_variant MELA-AU 1 220754502 220754502 single base substitution C T downstream_gene_variant MELA-AU 1 220754502 220754502 single base substitution C T intron_variant MELA-AU 1 220754804 220754804 single base substitution T A downstream_gene_variant MELA-AU 1 220754804 220754804 single base substitution T A intron_variant MELA-AU 1 220755488 220755488 single base substitution C A downstream_gene_variant MELA-AU 1 220755488 220755488 single base substitution C A intron_variant MELA-AU 1 220755601 220755601 single base substitution G A downstream_gene_variant MELA-AU 1 220755601 220755601 single base substitution G A intron_variant MELA-AU 1 220755732 220755732 single base substitution G A downstream_gene_variant MELA-AU 1 220755732 220755732 single base substitution G A intron_variant MELA-AU 1 220755928 220755928 single base substitution G A downstream_gene_variant MELA-AU 1 220755928 220755928 single base substitution G A intron_variant MELA-AU 1 220756223 220756223 single base substitution G A downstream_gene_variant MELA-AU 1 220756223 220756223 single base substitution G A intron_variant MELA-AU 1 220756671 220756671 single base substitution C T downstream_gene_variant MELA-AU 1 220756671 220756671 single base substitution C T intron_variant MELA-AU 1 220756803 220756803 single base substitution C T downstream_gene_variant MELA-AU 1 220756803 220756803 single base substitution C T intron_variant MELA-AU 1 220756919 220756919 single base substitution C T downstream_gene_variant MELA-AU 1 220756919 220756919 single base substitution C T intron_variant MELA-AU 1 220756970 220756970 single base substitution G A downstream_gene_variant MELA-AU 1 220756970 220756970 single base substitution G A intron_variant MELA-AU 1 220757054 220757054 single base substitution G A downstream_gene_variant MELA-AU 1 220757054 220757054 single base substitution G A intron_variant MELA-AU 1 220757113 220757113 single base substitution C T downstream_gene_variant MELA-AU 1 220757113 220757113 single base substitution C T intron_variant MELA-AU 1 220757199 220757199 single base substitution G A downstream_gene_variant MELA-AU 1 220757199 220757199 single base substitution G A intron_variant MELA-AU 1 220757230 220757230 single base substitution G A downstream_gene_variant MELA-AU 1 220757230 220757230 single base substitution G A intron_variant MELA-AU 1 220757632 220757632 single base substitution C T downstream_gene_variant MELA-AU 1 220757632 220757632 single base substitution C T intron_variant MELA-AU 1 220757943 220757943 single base substitution C T intron_variant MELA-AU 1 220757985 220757985 single base substitution C T intron_variant MELA-AU 1 220758079 220758079 single base substitution C T intron_variant MELA-AU 1 220758158 220758158 single base substitution G A intron_variant MELA-AU 1 220758485 220758485 single base substitution G A intron_variant MELA-AU 1 220758632 220758632 single base substitution T C intron_variant MELA-AU 1 220758874 220758874 single base substitution G A intron_variant MELA-AU 1 220758990 220758990 single base substitution C T intron_variant MELA-AU 1 220759265 220759265 single base substitution T C intron_variant MELA-AU 1 220759328 220759328 single base substitution C T intron_variant MELA-AU 1 220759588 220759588 single base substitution G A intron_variant MELA-AU 1 220759664 220759664 single base substitution C T intron_variant MELA-AU 1 220759929 220759929 single base substitution C T intron_variant MELA-AU 1 220760098 220760098 single base substitution T A intron_variant MELA-AU 1 220760142 220760142 single base substitution C T intron_variant MELA-AU 1 220760448 220760448 single base substitution C T intron_variant MELA-AU 1 220760524 220760524 single base substitution C T intron_variant MELA-AU 1 220760630 220760630 single base substitution C T intron_variant MELA-AU 1 220760695 220760695 single base substitution G C intron_variant MELA-AU 1 220760733 220760733 single base substitution G A intron_variant MELA-AU 1 220760818 220760818 single base substitution C T intron_variant MELA-AU 1 220761245 220761245 single base substitution C T intron_variant MELA-AU 1 220761409 220761409 single base substitution A G intron_variant MELA-AU 1 220761465 220761465 single base substitution C T intron_variant MELA-AU 1 220761468 220761468 single base substitution G A intron_variant MELA-AU 1 220761615 220761615 single base substitution G A intron_variant MELA-AU 1 220761752 220761752 single base substitution C T intron_variant MELA-AU 1 220762088 220762088 single base substitution C T intron_variant MELA-AU 1 220762405 220762405 single base substitution G A intron_variant MELA-AU 1 220762473 220762473 single base substitution C T intron_variant MELA-AU 1 220762482 220762482 single base substitution G A intron_variant MELA-AU 1 220762524 220762524 single base substitution C T intron_variant MELA-AU 1 220762573 220762573 single base substitution C T intron_variant MELA-AU 1 220762587 220762587 single base substitution A T intron_variant MELA-AU 1 220762735 220762735 single base substitution G A intron_variant MELA-AU 1 220762890 220762890 single base substitution G A intron_variant MELA-AU 1 220762894 220762894 single base substitution C T intron_variant MELA-AU 1 220762901 220762901 single base substitution G A intron_variant MELA-AU 1 220762965 220762965 single base substitution C T intron_variant MELA-AU 1 220763020 220763020 single base substitution C T intron_variant MELA-AU 1 220763290 220763290 single base substitution C T intron_variant MELA-AU 1 220763336 220763336 single base substitution G A intron_variant MELA-AU 1 220763427 220763427 single base substitution C T intron_variant MELA-AU 1 220763512 220763512 single base substitution G A intron_variant MELA-AU 1 220763744 220763744 single base substitution C T intron_variant MELA-AU 1 220763754 220763754 single base substitution C T intron_variant MELA-AU 1 220763798 220763798 single base substitution C T intron_variant MELA-AU 1 220763847 220763847 single base substitution C T intron_variant MELA-AU 1 220763911 220763911 single base substitution G A intron_variant MELA-AU 1 220764179 220764179 single base substitution C T intron_variant MELA-AU 1 220764209 220764209 single base substitution C T intron_variant MELA-AU 1 220764324 220764324 single base substitution C T intron_variant MELA-AU 1 220764436 220764436 single base substitution C T intron_variant MELA-AU 1 220764669 220764669 single base substitution T A intron_variant MELA-AU 1 220764683 220764683 single base substitution C T intron_variant MELA-AU 1 220765452 220765452 single base substitution T C intron_variant MELA-AU 1 220765798 220765798 single base substitution C T intron_variant MELA-AU 1 220766010 220766010 single base substitution G A intron_variant MELA-AU 1 220766106 220766106 single base substitution G A intron_variant MELA-AU 1 220766142 220766142 single base substitution G A intron_variant MELA-AU 1 220766480 220766480 single base substitution A C intron_variant MELA-AU 1 220766528 220766528 single base substitution A G intron_variant MELA-AU 1 220766701 220766701 single base substitution G A intron_variant MELA-AU 1 220766751 220766751 single base substitution C T intron_variant MELA-AU 1 220766754 220766754 single base substitution G A intron_variant MELA-AU 1 220766959 220766959 single base substitution G A intron_variant MELA-AU 1 220767094 220767094 single base substitution G A intron_variant MELA-AU 1 220767215 220767215 single base substitution C T intron_variant MELA-AU 1 220767263 220767263 single base substitution C T intron_variant MELA-AU 1 220767394 220767394 single base substitution C T intron_variant MELA-AU 1 220767567 220767567 single base substitution G A intron_variant MELA-AU 1 220767621 220767621 single base substitution C T intron_variant MELA-AU 1 220767857 220767857 single base substitution C T intron_variant MELA-AU 1 220767874 220767874 single base substitution G A intron_variant MELA-AU 1 220768109 220768109 single base substitution C T intron_variant MELA-AU 1 220768493 220768493 single base substitution A G intron_variant MELA-AU 1 220768607 220768607 single base substitution G A intron_variant MELA-AU 1 220768990 220768990 single base substitution T C intron_variant MELA-AU 1 220769060 220769060 single base substitution G A intron_variant MELA-AU 1 220769086 220769086 single base substitution T C intron_variant MELA-AU 1 220769538 220769538 single base substitution G A intron_variant MELA-AU 1 220769788 220769788 single base substitution C T intron_variant MELA-AU 1 220769912 220769912 single base substitution G T intron_variant MELA-AU 1 220770058 220770058 single base substitution A G intron_variant MELA-AU 1 220770392 220770392 single base substitution T A intron_variant MELA-AU 1 220770395 220770395 single base substitution C T intron_variant MELA-AU 1 220770538 220770538 single base substitution C T intron_variant MELA-AU 1 220770619 220770619 single base substitution C T intron_variant MELA-AU 1 220770646 220770646 single base substitution C T intron_variant MELA-AU 1 220770795 220770795 single base substitution T A intron_variant MELA-AU 1 220771124 220771124 single base substitution T G intron_variant MELA-AU 1 220771384 220771384 single base substitution A C intron_variant MELA-AU 1 220771978 220771978 single base substitution C T intron_variant MELA-AU 1 220772120 220772120 single base substitution G A intron_variant MELA-AU 1 220772352 220772352 single base substitution C T intron_variant MELA-AU 1 220772512 220772512 single base substitution C T intron_variant MELA-AU 1 220772732 220772732 single base substitution C T intron_variant MELA-AU 1 220773395 220773395 single base substitution G A intron_variant MELA-AU 1 220773460 220773460 single base substitution C T intron_variant MELA-AU 1 220773725 220773725 single base substitution T G intron_variant MELA-AU 1 220773954 220773954 single base substitution C T intron_variant MELA-AU 1 220774145 220774145 single base substitution C T intron_variant MELA-AU 1 220774157 220774157 single base substitution G A intron_variant MELA-AU 1 220774297 220774297 single base substitution C T intron_variant MELA-AU 1 220774326 220774326 single base substitution C T intron_variant MELA-AU 1 220774351 220774351 single base substitution C T intron_variant MELA-AU 1 220774495 220774495 single base substitution C T intron_variant MELA-AU 1 220775081 220775081 single base substitution G A intron_variant MELA-AU 1 220775303 220775303 single base substitution A T intron_variant MELA-AU 1 220775422 220775422 single base substitution G A intron_variant MELA-AU 1 220775541 220775541 single base substitution G A intron_variant MELA-AU 1 220775698 220775698 single base substitution C T intron_variant MELA-AU 1 220775717 220775717 single base substitution C T intron_variant MELA-AU 1 220776428 220776428 single base substitution G A intron_variant MELA-AU 1 220776549 220776549 single base substitution A T intron_variant MELA-AU 1 220776714 220776714 single base substitution C T intron_variant MELA-AU 1 220777101 220777101 single base substitution G A intron_variant MELA-AU 1 220777250 220777250 single base substitution C T intron_variant MELA-AU 1 220777331 220777331 single base substitution G A intron_variant MELA-AU 1 220777398 220777398 single base substitution T A intron_variant MELA-AU 1 220777732 220777732 single base substitution T C intron_variant MELA-AU 1 220777892 220777892 single base substitution G A intron_variant MELA-AU 1 220777930 220777930 single base substitution G A intron_variant MELA-AU 1 220778252 220778252 single base substitution G A intron_variant MELA-AU 1 220778647 220778647 single base substitution C T intron_variant MELA-AU 1 220778730 220778730 single base substitution A T intron_variant MELA-AU 1 220778961 220778961 single base substitution A G intron_variant MELA-AU 1 220779021 220779021 single base substitution G A intron_variant MELA-AU 1 220779151 220779151 single base substitution C T intron_variant MELA-AU 1 220779410 220779410 single base substitution T C intron_variant MELA-AU 1 220779490 220779490 single base substitution C T intron_variant MELA-AU 1 220779525 220779525 single base substitution C T intron_variant MELA-AU 1 220779645 220779645 single base substitution T C intron_variant MELA-AU 1 220779745 220779745 single base substitution C T intron_variant MELA-AU 1 220779802 220779802 single base substitution C T intron_variant MELA-AU 1 220780118 220780118 single base substitution G A intron_variant MELA-AU 1 220780136 220780136 single base substitution C T intron_variant MELA-AU 1 220780181 220780181 single base substitution C T intron_variant MELA-AU 1 220780350 220780350 single base substitution C T intron_variant MELA-AU 1 220780387 220780387 single base substitution C T intron_variant MELA-AU 1 220780537 220780537 single base substitution C T intron_variant MELA-AU 1 220780760 220780760 single base substitution T C intron_variant MELA-AU 1 220780778 220780778 single base substitution G A intron_variant MELA-AU 1 220780934 220780934 single base substitution C T intron_variant MELA-AU 1 220781073 220781073 single base substitution C T intron_variant MELA-AU 1 220781308 220781308 single base substitution T A intron_variant MELA-AU 1 220781515 220781515 single base substitution C T intron_variant MELA-AU 1 220781555 220781555 single base substitution T C intron_variant MELA-AU 1 220781568 220781568 single base substitution T C intron_variant MELA-AU 1 220781747 220781747 single base substitution C T intron_variant MELA-AU 1 220781759 220781759 single base substitution T C intron_variant MELA-AU 1 220781908 220781908 single base substitution C T intron_variant MELA-AU 1 220782541 220782541 single base substitution G A intron_variant MELA-AU 1 220782566 220782566 single base substitution G A intron_variant MELA-AU 1 220782596 220782596 single base substitution T C intron_variant MELA-AU 1 220782738 220782738 single base substitution C T intron_variant MELA-AU 1 220782908 220782908 single base substitution T A intron_variant MELA-AU 1 220783016 220783016 single base substitution T C intron_variant MELA-AU 1 220783196 220783196 single base substitution C T intron_variant MELA-AU 1 220783309 220783309 single base substitution C T intron_variant MELA-AU 1 220783331 220783331 single base substitution C T intron_variant MELA-AU 1 220783500 220783500 single base substitution C T intron_variant MELA-AU 1 220783578 220783578 single base substitution C T intron_variant MELA-AU 1 220783605 220783605 single base substitution T A intron_variant MELA-AU 1 220783711 220783711 single base substitution G A intron_variant MELA-AU 1 220783739 220783739 single base substitution C T intron_variant MELA-AU 1 220783820 220783820 single base substitution C T intron_variant MELA-AU 1 220784002 220784002 single base substitution C T intron_variant MELA-AU 1 220784067 220784067 single base substitution G A intron_variant MELA-AU 1 220784135 220784135 single base substitution C T intron_variant MELA-AU 1 220784176 220784176 single base substitution T C intron_variant MELA-AU 1 220784278 220784278 single base substitution C T intron_variant MELA-AU 1 220784400 220784400 single base substitution C T intron_variant MELA-AU 1 220784429 220784429 single base substitution G A intron_variant MELA-AU 1 220784512 220784512 single base substitution C T intron_variant MELA-AU 1 220784807 220784807 single base substitution T G intron_variant MELA-AU 1 220784845 220784845 single base substitution G A intron_variant MELA-AU 1 220785039 220785039 single base substitution C T intron_variant MELA-AU 1 220785166 220785166 single base substitution C T intron_variant MELA-AU 1 220785297 220785297 single base substitution A G intron_variant MELA-AU 1 220785566 220785566 single base substitution A G intron_variant MELA-AU 1 220785654 220785654 single base substitution G A intron_variant MELA-AU 1 220785743 220785743 single base substitution C T intron_variant MELA-AU 1 220785839 220785839 single base substitution T G intron_variant MELA-AU 1 220786008 220786008 single base substitution A T intron_variant MELA-AU 1 220786051 220786051 single base substitution C T intron_variant MELA-AU 1 220786304 220786304 single base substitution C T intron_variant MELA-AU 1 220786553 220786553 single base substitution T G intron_variant MELA-AU 1 220786677 220786677 single base substitution G A intron_variant MELA-AU 1 220786698 220786698 single base substitution G A intron_variant MELA-AU 1 220786903 220786903 single base substitution A T intron_variant MELA-AU 1 220786934 220786934 single base substitution G A intron_variant MELA-AU 1 220787341 220787341 single base substitution C T intron_variant MELA-AU 1 220787434 220787434 single base substitution C T intron_variant MELA-AU 1 220787435 220787435 single base substitution G A intron_variant MELA-AU 1 220787641 220787641 single base substitution C T intron_variant MELA-AU 1 220787653 220787653 single base substitution C T intron_variant MELA-AU 1 220787686 220787686 single base substitution C T intron_variant MELA-AU 1 220787740 220787740 single base substitution G A intron_variant MELA-AU 1 220787823 220787823 single base substitution G C intron_variant MELA-AU 1 220788214 220788214 single base substitution A T intron_variant MELA-AU 1 220788218 220788218 single base substitution C T intron_variant MELA-AU 1 220788727 220788727 single base substitution C T intron_variant MELA-AU 1 220788865 220788865 single base substitution C T intron_variant MELA-AU 1 220789145 220789145 single base substitution T G intron_variant MELA-AU 1 220789361 220789361 single base substitution T A intron_variant MELA-AU 1 220789374 220789374 single base substitution C T intron_variant MELA-AU 1 220789630 220789630 single base substitution G A intron_variant MELA-AU 1 220790079 220790079 single base substitution G A intron_variant MELA-AU 1 220790110 220790110 single base substitution C T intron_variant MELA-AU 1 220790153 220790153 single base substitution G A intron_variant MELA-AU 1 220790179 220790179 single base substitution C T intron_variant MELA-AU 1 220790197 220790197 single base substitution A G intron_variant MELA-AU 1 220790522 220790522 single base substitution T G intron_variant MELA-AU 1 220790636 220790636 single base substitution C T intron_variant MELA-AU 1 220791013 220791013 single base substitution A C intron_variant MELA-AU 1 220791355 220791355 single base substitution G A intron_variant MELA-AU 1 220791647 220791647 single base substitution C T splice_region_variant MELA-AU 1 220791687 220791687 single base substitution T G missense_variant I174M 522T>G MELA-AU 1 220791687 220791687 single base substitution T G missense_variant I196M 588T>G MELA-AU 1 220791687 220791687 single base substitution T G missense_variant I61M 183T>G MELA-AU 1 220791868 220791868 single base substitution T G missense_variant F122V 364T>G MELA-AU 1 220791868 220791868 single base substitution T G missense_variant F235V 703T>G MELA-AU 1 220791868 220791868 single base substitution T G missense_variant F257V 769T>G MELA-AU 1 220792789 220792789 single base substitution C T intron_variant MELA-AU 1 220793208 220793208 single base substitution G A intron_variant MELA-AU 1 220793295 220793295 single base substitution G A intron_variant MELA-AU 1 220793429 220793429 single base substitution C A intron_variant MELA-AU 1 220793785 220793785 single base substitution C T intron_variant MELA-AU 1 220793794 220793795 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 1 220794613 220794613 single base substitution T A intron_variant MELA-AU 1 220794655 220794655 single base substitution C T intron_variant MELA-AU 1 220794742 220794742 single base substitution G A intron_variant MELA-AU 1 220794834 220794834 single base substitution C T intron_variant MELA-AU 1 220794902 220794902 single base substitution C T intron_variant MELA-AU 1 220794943 220794943 single base substitution G A intron_variant MELA-AU 1 220795590 220795590 single base substitution T C intron_variant MELA-AU 1 220795669 220795669 single base substitution G A intron_variant MELA-AU 1 220795824 220795824 single base substitution C T intron_variant MELA-AU 1 220796036 220796036 single base substitution C T intron_variant MELA-AU 1 220796436 220796436 single base substitution G A intron_variant MELA-AU 1 220796513 220796513 single base substitution C T intron_variant MELA-AU 1 220796559 220796559 single base substitution C A intron_variant MELA-AU 1 220796977 220796977 single base substitution C T intron_variant MELA-AU 1 220797077 220797077 single base substitution T A intron_variant MELA-AU 1 220797122 220797122 single base substitution C T intron_variant MELA-AU 1 220797411 220797412 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 220797947 220797947 single base substitution A T intron_variant MELA-AU 1 220798059 220798059 single base substitution T G intron_variant MELA-AU 1 220798120 220798120 single base substitution C T intron_variant MELA-AU 1 220798152 220798152 single base substitution C T intron_variant MELA-AU 1 220798172 220798172 single base substitution C T intron_variant MELA-AU 1 220798242 220798242 single base substitution C T intron_variant MELA-AU 1 220798250 220798250 single base substitution C T intron_variant MELA-AU 1 220798265 220798265 single base substitution G A intron_variant MELA-AU 1 220798399 220798399 single base substitution G A intron_variant MELA-AU 1 220798650 220798650 single base substitution G A intron_variant MELA-AU 1 220798745 220798745 single base substitution G A intron_variant MELA-AU 1 220798833 220798833 single base substitution C T intron_variant MELA-AU 1 220798959 220798959 single base substitution C T intron_variant MELA-AU 1 220798999 220798999 single base substitution C T intron_variant MELA-AU 1 220799121 220799121 single base substitution T C intron_variant MELA-AU 1 220799127 220799127 single base substitution G A intron_variant MELA-AU 1 220799695 220799695 single base substitution G A intron_variant MELA-AU 1 220799868 220799868 single base substitution C T intron_variant MELA-AU 1 220800195 220800195 single base substitution C T intron_variant MELA-AU 1 220800216 220800216 single base substitution G A intron_variant MELA-AU 1 220800319 220800319 single base substitution C T intron_variant MELA-AU 1 220800320 220800320 single base substitution C T intron_variant MELA-AU 1 220800385 220800385 single base substitution T G intron_variant MELA-AU 1 220800389 220800389 single base substitution T A intron_variant MELA-AU 1 220800412 220800412 single base substitution G A intron_variant MELA-AU 1 220800511 220800511 single base substitution C T intron_variant MELA-AU 1 220800517 220800517 single base substitution G A intron_variant MELA-AU 1 220800540 220800540 single base substitution A T intron_variant MELA-AU 1 220800581 220800581 single base substitution G A intron_variant MELA-AU 1 220800613 220800613 single base substitution G A intron_variant MELA-AU 1 220800645 220800645 single base substitution T A intron_variant MELA-AU 1 220800824 220800824 single base substitution C T intron_variant MELA-AU 1 220801086 220801086 single base substitution C T intron_variant MELA-AU 1 220801179 220801179 single base substitution C T intron_variant MELA-AU 1 220801304 220801304 single base substitution G A intron_variant MELA-AU 1 220801381 220801381 single base substitution C T intron_variant MELA-AU 1 220801639 220801639 single base substitution C T intron_variant MELA-AU 1 220801639 220801640 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 220801680 220801680 single base substitution C T intron_variant MELA-AU 1 220801862 220801862 single base substitution G A intron_variant MELA-AU 1 220802089 220802089 single base substitution C T intron_variant MELA-AU 1 220802120 220802120 single base substitution A G intron_variant MELA-AU 1 220802176 220802176 single base substitution C T intron_variant MELA-AU 1 220802264 220802264 single base substitution A T intron_variant MELA-AU 1 220802518 220802518 single base substitution T C intron_variant MELA-AU 1 220802905 220802905 single base substitution C T intron_variant MELA-AU 1 220803302 220803302 single base substitution T A intron_variant MELA-AU 1 220803326 220803326 single base substitution C T intron_variant MELA-AU 1 220803744 220803745 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 220803787 220803787 single base substitution C T intron_variant MELA-AU 1 220803940 220803940 single base substitution C T intron_variant MELA-AU 1 220804342 220804342 single base substitution G A intron_variant MELA-AU 1 220804420 220804420 single base substitution A C missense_variant E183A 548A>C MELA-AU 1 220804420 220804420 single base substitution A C missense_variant E296A 887A>C MELA-AU 1 220804420 220804420 single base substitution A C missense_variant E318A 953A>C MELA-AU 1 220804556 220804556 single base substitution G A intron_variant MELA-AU 1 220804730 220804730 single base substitution C T intron_variant MELA-AU 1 220804868 220804869 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 220804974 220804974 single base substitution C T intron_variant MELA-AU 1 220805162 220805162 single base substitution A C intron_variant MELA-AU 1 220805200 220805200 single base substitution G A intron_variant MELA-AU 1 220805278 220805278 single base substitution G A intron_variant MELA-AU 1 220805336 220805336 single base substitution G A intron_variant MELA-AU 1 220805395 220805395 single base substitution G A intron_variant MELA-AU 1 220805497 220805497 single base substitution G A intron_variant MELA-AU 1 220805751 220805751 single base substitution C T intron_variant MELA-AU 1 220806005 220806005 single base substitution G A intron_variant MELA-AU 1 220806043 220806043 single base substitution G A intron_variant MELA-AU 1 220806071 220806071 single base substitution G A intron_variant MELA-AU 1 220806400 220806400 single base substitution G A intron_variant MELA-AU 1 220806592 220806592 single base substitution G A intron_variant MELA-AU 1 220806897 220806897 single base substitution G A intron_variant MELA-AU 1 220807094 220807094 single base substitution G A intron_variant MELA-AU 1 220807190 220807190 single base substitution G A intron_variant MELA-AU 1 220807251 220807251 single base substitution G A intron_variant MELA-AU 1 220807253 220807253 single base substitution G A intron_variant MELA-AU 1 220807568 220807568 single base substitution C T intron_variant MELA-AU 1 220807788 220807788 single base substitution T A intron_variant MELA-AU 1 220808208 220808208 single base substitution C A intron_variant MELA-AU 1 220808210 220808210 single base substitution A T intron_variant MELA-AU 1 220808427 220808427 single base substitution C T intron_variant MELA-AU 1 220808502 220808502 single base substitution C T intron_variant MELA-AU 1 220808547 220808547 single base substitution C T intron_variant MELA-AU 1 220808599 220808599 single base substitution C T intron_variant MELA-AU 1 220808695 220808695 single base substitution C T intron_variant MELA-AU 1 220808734 220808734 single base substitution C T missense_variant S245L 734C>T MELA-AU 1 220808734 220808734 single base substitution C T missense_variant S358L 1073C>T MELA-AU 1 220808734 220808734 single base substitution C T missense_variant S380L 1139C>T MELA-AU 1 220808913 220808913 single base substitution T C intron_variant MELA-AU 1 220809012 220809012 single base substitution C T intron_variant MELA-AU 1 220809180 220809180 single base substitution C T missense_variant P293S 877C>T MELA-AU 1 220809180 220809180 single base substitution C T missense_variant P406S 1216C>T MELA-AU 1 220809180 220809180 single base substitution C T missense_variant P428S 1282C>T MELA-AU 1 220809185 220809185 single base substitution C T synonymous_variant S294S 882C>T MELA-AU 1 220809185 220809185 single base substitution C T synonymous_variant S407S 1221C>T MELA-AU 1 220809185 220809185 single base substitution C T synonymous_variant S429S 1287C>T MELA-AU 1 220809770 220809770 single base substitution G A intron_variant MELA-AU 1 220809838 220809838 single base substitution C T intron_variant MELA-AU 1 220809969 220809969 single base substitution C T intron_variant MELA-AU 1 220810047 220810047 single base substitution A G intron_variant MELA-AU 1 220810078 220810078 single base substitution G A intron_variant MELA-AU 1 220810109 220810109 single base substitution G A intron_variant MELA-AU 1 220810171 220810171 single base substitution G A intron_variant MELA-AU 1 220810271 220810271 single base substitution C T intron_variant MELA-AU 1 220810343 220810343 single base substitution G A intron_variant MELA-AU 1 220810545 220810545 single base substitution G A intron_variant MELA-AU 1 220810625 220810625 single base substitution T A intron_variant MELA-AU 1 220811035 220811035 single base substitution A T intron_variant MELA-AU 1 220811292 220811292 single base substitution C T intron_variant MELA-AU 1 220811358 220811358 single base substitution C T intron_variant MELA-AU 1 220811638 220811638 single base substitution C T intron_variant MELA-AU 1 220811992 220811992 single base substitution T A intron_variant MELA-AU 1 220812171 220812171 single base substitution G A intron_variant MELA-AU 1 220812172 220812172 single base substitution G A intron_variant MELA-AU 1 220812262 220812262 single base substitution G A intron_variant MELA-AU 1 220812396 220812396 single base substitution G A intron_variant MELA-AU 1 220812752 220812752 single base substitution C T intron_variant MELA-AU 1 220812837 220812837 single base substitution G A intron_variant MELA-AU 1 220813019 220813019 single base substitution C T intron_variant MELA-AU 1 220813034 220813034 single base substitution C T intron_variant MELA-AU 1 220813077 220813077 single base substitution C T intron_variant MELA-AU 1 220813154 220813154 single base substitution C T intron_variant MELA-AU 1 220813166 220813166 single base substitution G A intron_variant MELA-AU 1 220813209 220813209 single base substitution G A intron_variant MELA-AU 1 220814173 220814173 single base substitution C T intron_variant MELA-AU 1 220814337 220814337 single base substitution C T intron_variant MELA-AU 1 220814381 220814381 single base substitution G A intron_variant MELA-AU 1 220814730 220814730 single base substitution C T intron_variant MELA-AU 1 220814824 220814824 single base substitution G A intron_variant MELA-AU 1 220815014 220815014 single base substitution G A intron_variant MELA-AU 1 220815161 220815161 single base substitution G A intron_variant MELA-AU 1 220815237 220815237 single base substitution C T intron_variant MELA-AU 1 220815262 220815262 single base substitution C T intron_variant MELA-AU 1 220815272 220815272 single base substitution C T intron_variant MELA-AU 1 220815427 220815427 single base substitution T A intron_variant MELA-AU 1 220815436 220815436 single base substitution C T intron_variant MELA-AU 1 220815629 220815629 deletion of <=200bp T - intron_variant MELA-AU 1 220815753 220815753 single base substitution C T intron_variant MELA-AU 1 220815851 220815851 single base substitution G A intron_variant MELA-AU 1 220815854 220815854 single base substitution G A intron_variant MELA-AU 1 220815868 220815868 single base substitution C T intron_variant MELA-AU 1 220815870 220815870 single base substitution C T intron_variant MELA-AU 1 220815931 220815931 single base substitution C T intron_variant MELA-AU 1 220816099 220816099 single base substitution C T intron_variant MELA-AU 1 220816185 220816185 single base substitution G A intron_variant MELA-AU 1 220816206 220816206 single base substitution G A intron_variant MELA-AU 1 220816345 220816345 single base substitution C T intron_variant MELA-AU 1 220816394 220816394 single base substitution C T intron_variant MELA-AU 1 220816573 220816573 single base substitution G A intron_variant MELA-AU 1 220816615 220816615 single base substitution G A intron_variant MELA-AU 1 220816629 220816629 single base substitution G A intron_variant MELA-AU 1 220816815 220816815 single base substitution G A intron_variant MELA-AU 1 220816848 220816848 single base substitution G A intron_variant MELA-AU 1 220817147 220817147 single base substitution C T intron_variant MELA-AU 1 220817189 220817189 single base substitution C T intron_variant MELA-AU 1 220817801 220817801 single base substitution C A intron_variant MELA-AU 1 220817946 220817946 single base substitution C T intron_variant MELA-AU 1 220817973 220817973 single base substitution T A intron_variant MELA-AU 1 220818120 220818120 single base substitution C T intron_variant MELA-AU 1 220818572 220818572 single base substitution G A intron_variant MELA-AU 1 220818660 220818660 single base substitution G A intron_variant MELA-AU 1 220818773 220818773 single base substitution C T intron_variant MELA-AU 1 220818787 220818788 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 220819129 220819129 single base substitution G A intron_variant MELA-AU 1 220819181 220819181 single base substitution C T intron_variant MELA-AU 1 220819314 220819314 single base substitution G A intron_variant MELA-AU 1 220819329 220819329 single base substitution G A intron_variant MELA-AU 1 220819419 220819419 single base substitution G A intron_variant MELA-AU 1 220819501 220819501 single base substitution C T intron_variant MELA-AU 1 220819593 220819593 single base substitution C T intron_variant MELA-AU 1 220819775 220819775 single base substitution C T intron_variant MELA-AU 1 220819784 220819784 single base substitution G A intron_variant MELA-AU 1 220819914 220819914 single base substitution G A intron_variant MELA-AU 1 220820108 220820108 single base substitution C T intron_variant MELA-AU 1 220820153 220820153 single base substitution C T intron_variant MELA-AU 1 220820366 220820366 single base substitution G A intron_variant MELA-AU 1 220820467 220820467 single base substitution G A intron_variant MELA-AU 1 220820651 220820651 single base substitution C T intron_variant MELA-AU 1 220820851 220820851 single base substitution G A intron_variant MELA-AU 1 220821011 220821011 single base substitution T A intron_variant MELA-AU 1 220821209 220821209 single base substitution G A intron_variant MELA-AU 1 220821237 220821237 single base substitution G A intron_variant MELA-AU 1 220821249 220821249 single base substitution C T intron_variant MELA-AU 1 220821642 220821642 single base substitution T A intron_variant MELA-AU 1 220821659 220821659 single base substitution A G intron_variant MELA-AU 1 220821825 220821825 single base substitution G A intron_variant MELA-AU 1 220822361 220822361 single base substitution A C intron_variant MELA-AU 1 220822536 220822536 single base substitution C T intron_variant MELA-AU 1 220822582 220822582 insertion of <=200bp - G intron_variant MELA-AU 1 220822596 220822596 single base substitution C T intron_variant MELA-AU 1 220823327 220823327 single base substitution C T intron_variant MELA-AU 1 220823387 220823387 single base substitution C T intron_variant MELA-AU 1 220824009 220824009 single base substitution C T synonymous_variant V371V 1113C>T MELA-AU 1 220824009 220824009 single base substitution C T synonymous_variant V484V 1452C>T MELA-AU 1 220824009 220824009 single base substitution C T synonymous_variant V506V 1518C>T MELA-AU 1 220824181 220824181 single base substitution A G intron_variant MELA-AU 1 220824296 220824296 single base substitution C T intron_variant MELA-AU 1 220824330 220824330 single base substitution C T intron_variant MELA-AU 1 220824346 220824346 single base substitution C T intron_variant MELA-AU 1 220824621 220824621 single base substitution G A intron_variant MELA-AU 1 220824671 220824671 single base substitution A T intron_variant MELA-AU 1 220824957 220824957 single base substitution G A intron_variant MELA-AU 1 220824972 220824972 single base substitution A G intron_variant MELA-AU 1 220825129 220825129 single base substitution C T intron_variant MELA-AU 1 220825245 220825245 single base substitution T C intron_variant MELA-AU 1 220825285 220825285 single base substitution C T intron_variant MELA-AU 1 220825978 220825978 single base substitution C T intron_variant MELA-AU 1 220826007 220826007 single base substitution C T intron_variant MELA-AU 1 220826154 220826154 single base substitution G A intron_variant MELA-AU 1 220826247 220826247 single base substitution G A intron_variant MELA-AU 1 220826502 220826502 single base substitution C T missense_variant P464L 1391C>T MELA-AU 1 220826502 220826502 single base substitution C T missense_variant P577L 1730C>T MELA-AU 1 220826502 220826502 single base substitution C T missense_variant P599L 1796C>T MELA-AU 1 220826508 220826508 single base substitution G A missense_variant R466Q 1397G>A MELA-AU 1 220826508 220826508 single base substitution G A missense_variant R579Q 1736G>A MELA-AU 1 220826508 220826508 single base substitution G A missense_variant R601Q 1802G>A MELA-AU 1 220826611 220826611 single base substitution C T synonymous_variant S500S 1500C>T MELA-AU 1 220826611 220826611 single base substitution C T synonymous_variant S613S 1839C>T MELA-AU 1 220826611 220826611 single base substitution C T synonymous_variant S635S 1905C>T MELA-AU 1 220826843 220826843 single base substitution C T intron_variant MELA-AU 1 220826866 220826866 single base substitution C T intron_variant MELA-AU 1 220826883 220826883 single base substitution G A intron_variant MELA-AU 1 220827298 220827298 single base substitution G A intron_variant MELA-AU 1 220828268 220828268 single base substitution G A intron_variant MELA-AU 1 220828414 220828414 single base substitution G A intron_variant MELA-AU 1 220828436 220828436 single base substitution C G intron_variant MELA-AU 1 220828599 220828599 single base substitution C T intron_variant MELA-AU 1 220828644 220828644 single base substitution C T intron_variant MELA-AU 1 220828771 220828771 single base substitution C A intron_variant MELA-AU 1 220829034 220829034 single base substitution G A intron_variant MELA-AU 1 220829220 220829220 single base substitution C A intron_variant MELA-AU 1 220829250 220829250 single base substitution C T intron_variant MELA-AU 1 220829455 220829455 single base substitution G T intron_variant MELA-AU 1 220829529 220829529 single base substitution C T intron_variant MELA-AU 1 220829560 220829560 single base substitution C T intron_variant MELA-AU 1 220829691 220829691 single base substitution G A intron_variant MELA-AU 1 220829719 220829719 single base substitution C T intron_variant MELA-AU 1 220829775 220829775 single base substitution A T intron_variant MELA-AU 1 220829997 220829997 single base substitution G A intron_variant MELA-AU 1 220830034 220830034 single base substitution C T intron_variant MELA-AU 1 220830389 220830389 single base substitution C T intron_variant MELA-AU 1 220830650 220830650 single base substitution T C intron_variant MELA-AU 1 220830763 220830763 single base substitution T A intron_variant MELA-AU 1 220830792 220830792 single base substitution G A intron_variant MELA-AU 1 220830823 220830823 single base substitution A G intron_variant MELA-AU 1 220830837 220830837 single base substitution G A intron_variant MELA-AU 1 220830952 220830952 single base substitution G A intron_variant MELA-AU 1 220831248 220831248 single base substitution C T intron_variant MELA-AU 1 220831322 220831322 single base substitution C T intron_variant MELA-AU 1 220831633 220831633 single base substitution G A intron_variant MELA-AU 1 220831750 220831750 single base substitution C T intron_variant MELA-AU 1 220832033 220832033 single base substitution A G intron_variant MELA-AU 1 220832107 220832107 single base substitution C T intron_variant MELA-AU 1 220832288 220832288 single base substitution C T intron_variant MELA-AU 1 220832644 220832644 single base substitution G A intron_variant MELA-AU 1 220832863 220832863 single base substitution G T intron_variant MELA-AU 1 220832932 220832932 single base substitution G A intron_variant MELA-AU 1 220833223 220833223 single base substitution C T intron_variant MELA-AU 1 220833224 220833224 single base substitution C T intron_variant MELA-AU 1 220833493 220833493 single base substitution C T intron_variant MELA-AU 1 220833563 220833563 single base substitution C T intron_variant MELA-AU 1 220833628 220833628 single base substitution A T intron_variant MELA-AU 1 220833689 220833689 single base substitution C T intron_variant MELA-AU 1 220833868 220833868 single base substitution C A intron_variant MELA-AU 1 220833948 220833948 single base substitution G A intron_variant MELA-AU 1 220834199 220834199 single base substitution C T intron_variant MELA-AU 1 220834270 220834270 single base substitution G A intron_variant MELA-AU 1 220834284 220834284 single base substitution G A intron_variant MELA-AU 1 220834366 220834366 single base substitution G A intron_variant MELA-AU 1 220834490 220834490 single base substitution C T intron_variant MELA-AU 1 220834900 220834900 single base substitution C T intron_variant MELA-AU 1 220835034 220835034 single base substitution T A intron_variant MELA-AU 1 220835471 220835471 single base substitution A G missense_variant N634S 1901A>G MELA-AU 1 220835471 220835471 single base substitution A G missense_variant N747S 2240A>G MELA-AU 1 220835471 220835471 single base substitution A G missense_variant N784S 2351A>G MELA-AU 1 220836686 220836686 single base substitution C T 3_prime_UTR_variant MELA-AU 1 220836686 220836686 single base substitution C T downstream_gene_variant MELA-AU 1 220836811 220836811 single base substitution T C 3_prime_UTR_variant MELA-AU 1 220836811 220836811 single base substitution T C downstream_gene_variant MELA-AU 1 220836895 220836895 single base substitution G A 3_prime_UTR_variant MELA-AU 1 220836895 220836895 single base substitution G A downstream_gene_variant MELA-AU 1 220837151 220837151 single base substitution C T 3_prime_UTR_variant MELA-AU 1 220837151 220837151 single base substitution C T downstream_gene_variant MELA-AU 1 220837559 220837559 single base substitution G A 3_prime_UTR_variant MELA-AU 1 220837559 220837559 single base substitution G A downstream_gene_variant MELA-AU 1 220837869 220837869 single base substitution C T downstream_gene_variant MELA-AU 1 220838063 220838063 single base substitution C T downstream_gene_variant MELA-AU 1 220838070 220838072 multiple base substitution (>=2bp and <=200bp) CCC TTA downstream_gene_variant MELA-AU 1 220838287 220838287 single base substitution G A downstream_gene_variant MELA-AU 1 220838299 220838299 single base substitution C T downstream_gene_variant MELA-AU 1 220838350 220838350 single base substitution C T downstream_gene_variant MELA-AU 1 220838376 220838376 single base substitution T C downstream_gene_variant MELA-AU 1 220838423 220838423 single base substitution G A downstream_gene_variant MELA-AU 1 220838437 220838437 single base substitution C T downstream_gene_variant MELA-AU 1 220838510 220838510 single base substitution G A downstream_gene_variant MELA-AU 1 220838600 220838600 single base substitution C T downstream_gene_variant MELA-AU 1 220838946 220838946 single base substitution G A downstream_gene_variant MELA-AU 1 220839040 220839040 single base substitution A T downstream_gene_variant MELA-AU 1 220839046 220839046 single base substitution G A downstream_gene_variant MELA-AU 1 220839096 220839096 single base substitution G A downstream_gene_variant MELA-AU 1 220839422 220839422 single base substitution C T downstream_gene_variant MELA-AU 1 220839450 220839451 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 1 220839530 220839530 single base substitution C T downstream_gene_variant MELA-AU 1 220839592 220839592 single base substitution G A downstream_gene_variant MELA-AU 1 220839757 220839757 single base substitution G A downstream_gene_variant MELA-AU 1 220839839 220839839 single base substitution G A downstream_gene_variant MELA-AU 1 220840163 220840163 single base substitution C T downstream_gene_variant MELA-AU 1 220840176 220840176 single base substitution G A downstream_gene_variant MELA-AU 1 220840631 220840631 single base substitution G A downstream_gene_variant MELA-AU 1 220840809 220840809 single base substitution G A downstream_gene_variant MELA-AU 1 220840846 220840846 single base substitution T G downstream_gene_variant MELA-AU 1 220840998 220840998 single base substitution G A downstream_gene_variant MELA-AU 1 220841159 220841159 single base substitution A T downstream_gene_variant MELA-AU 1 220841205 220841205 single base substitution G A downstream_gene_variant MELA-AU 1 220841531 220841531 single base substitution A T downstream_gene_variant MELA-AU 1 220841577 220841577 single base substitution G A downstream_gene_variant MELA-AU 1 220841639 220841639 single base substitution C T downstream_gene_variant MELA-AU 1 220841671 220841671 single base substitution G A downstream_gene_variant MELA-AU 1 220841672 220841672 single base substitution G A downstream_gene_variant MELA-AU 1 220841722 220841722 single base substitution G A downstream_gene_variant MELA-AU 1 220841823 220841823 single base substitution C T downstream_gene_variant MELA-AU 1 220841927 220841927 single base substitution G A downstream_gene_variant MELA-AU 1 220842229 220842229 single base substitution G A downstream_gene_variant MELA-AU 1 220842459 220842459 single base substitution G A downstream_gene_variant MELA-AU 1 220842512 220842512 single base substitution G A downstream_gene_variant MELA-AU 1 220842540 220842540 single base substitution G A downstream_gene_variant MELA-AU 1 220842558 220842558 single base substitution C T downstream_gene_variant ORCA-IN 1 220707755 220707755 single base substitution C A intron_variant ORCA-IN 1 220716543 220716543 single base substitution G T intron_variant ORCA-IN 1 220727599 220727599 single base substitution C T intron_variant ORCA-IN 1 220765602 220765602 single base substitution A G intron_variant ORCA-IN 1 220808685 220808685 deletion of <=200bp G - intron_variant ORCA-IN 1 220834176 220834176 single base substitution C T intron_variant OV-AU 1 220697590 220697590 single base substitution C G upstream_gene_variant OV-AU 1 220701360 220701360 single base substitution G C upstream_gene_variant OV-AU 1 220703030 220703030 single base substitution G C intron_variant OV-AU 1 220706693 220706693 single base substitution C A intron_variant OV-AU 1 220708884 220708884 single base substitution C A intron_variant OV-AU 1 220715793 220715793 single base substitution G T intron_variant OV-AU 1 220719895 220719895 single base substitution G A intron_variant OV-AU 1 220724217 220724217 single base substitution T G intron_variant OV-AU 1 220726206 220726206 single base substitution G A intron_variant OV-AU 1 220730223 220730223 single base substitution G T intron_variant OV-AU 1 220733858 220733858 single base substitution C T intron_variant OV-AU 1 220735622 220735622 single base substitution C T intron_variant OV-AU 1 220736119 220736119 single base substitution A C intron_variant OV-AU 1 220737950 220737950 single base substitution T C intron_variant OV-AU 1 220738326 220738326 single base substitution T G intron_variant OV-AU 1 220741826 220741826 single base substitution C A intron_variant OV-AU 1 220744378 220744378 single base substitution A T intron_variant OV-AU 1 220746819 220746819 single base substitution C G intron_variant OV-AU 1 220758907 220758907 single base substitution A G intron_variant OV-AU 1 220759970 220759970 single base substitution C A intron_variant OV-AU 1 220764840 220764840 single base substitution G C intron_variant OV-AU 1 220769749 220769749 single base substitution C G intron_variant OV-AU 1 220771200 220771200 single base substitution A T intron_variant OV-AU 1 220774407 220774407 single base substitution C T intron_variant OV-AU 1 220775291 220775291 single base substitution T C intron_variant OV-AU 1 220777281 220777281 single base substitution T A intron_variant OV-AU 1 220783735 220783735 single base substitution G T intron_variant OV-AU 1 220786311 220786311 single base substitution A G intron_variant OV-AU 1 220796617 220796617 single base substitution T C intron_variant OV-AU 1 220802147 220802147 single base substitution G T intron_variant OV-AU 1 220802148 220802148 single base substitution G C intron_variant OV-AU 1 220805294 220805294 single base substitution T C intron_variant OV-AU 1 220807465 220807465 single base substitution G A intron_variant OV-AU 1 220810776 220810776 single base substitution C T intron_variant OV-AU 1 220817510 220817510 single base substitution G A intron_variant OV-AU 1 220818879 220818879 single base substitution G A intron_variant OV-AU 1 220823226 220823226 single base substitution G C intron_variant OV-AU 1 220826225 220826225 single base substitution G T intron_variant OV-AU 1 220834735 220834735 single base substitution C T intron_variant OV-AU 1 220835780 220835780 single base substitution A T 3_prime_UTR_variant OV-AU 1 220836215 220836215 single base substitution A C 3_prime_UTR_variant OV-AU 1 220836215 220836215 single base substitution A C downstream_gene_variant OV-AU 1 220842391 220842391 single base substitution A G downstream_gene_variant PACA-AU 1 220698960 220698960 single base substitution T C upstream_gene_variant PACA-AU 1 220706756 220706756 single base substitution G A intron_variant PACA-AU 1 220708080 220708080 single base substitution A G intron_variant PACA-AU 1 220708281 220708281 single base substitution G T intron_variant PACA-AU 1 220709596 220709596 single base substitution T G intron_variant PACA-AU 1 220710152 220710152 single base substitution A T intron_variant PACA-AU 1 220710763 220710763 single base substitution C A intron_variant PACA-AU 1 220711362 220711362 single base substitution T G intron_variant PACA-AU 1 220713700 220713700 single base substitution G A intron_variant PACA-AU 1 220721067 220721067 single base substitution C T intron_variant PACA-AU 1 220722107 220722107 single base substitution A T intron_variant PACA-AU 1 220722874 220722874 single base substitution G C intron_variant PACA-AU 1 220723002 220723002 single base substitution G A intron_variant PACA-AU 1 220725150 220725150 single base substitution G T intron_variant PACA-AU 1 220730734 220730734 single base substitution C A intron_variant PACA-AU 1 220737796 220737796 single base substitution A G intron_variant PACA-AU 1 220738074 220738074 single base substitution C A intron_variant PACA-AU 1 220742548 220742548 single base substitution T C intron_variant PACA-AU 1 220744197 220744197 single base substitution G A intron_variant PACA-AU 1 220749016 220749016 single base substitution G A intron_variant PACA-AU 1 220750117 220750117 single base substitution T G intron_variant PACA-AU 1 220753597 220753597 single base substitution G C downstream_gene_variant PACA-AU 1 220753597 220753597 single base substitution G C intron_variant PACA-AU 1 220753851 220753851 single base substitution T A downstream_gene_variant PACA-AU 1 220753851 220753851 single base substitution T A intron_variant PACA-AU 1 220757214 220757214 single base substitution T G downstream_gene_variant PACA-AU 1 220757214 220757214 single base substitution T G intron_variant PACA-AU 1 220758077 220758077 single base substitution A T intron_variant PACA-AU 1 220764635 220764635 single base substitution G A intron_variant PACA-AU 1 220765600 220765600 single base substitution T C intron_variant PACA-AU 1 220767374 220767374 single base substitution G T intron_variant PACA-AU 1 220769980 220769997 deletion of <=200bp TTTTAATTGGGGTGAACA - intron_variant PACA-AU 1 220771660 220771660 single base substitution T A intron_variant PACA-AU 1 220774804 220774804 single base substitution A T intron_variant PACA-AU 1 220784487 220784487 single base substitution C T intron_variant PACA-AU 1 220784701 220784701 single base substitution G A intron_variant PACA-AU 1 220785383 220785383 single base substitution C T intron_variant PACA-AU 1 220787243 220787243 single base substitution G C intron_variant PACA-AU 1 220788983 220788983 single base substitution C T intron_variant PACA-AU 1 220789361 220789361 single base substitution T A intron_variant PACA-AU 1 220791847 220791847 single base substitution T G missense_variant L115V 343T>G PACA-AU 1 220791847 220791847 single base substitution T G missense_variant L228V 682T>G PACA-AU 1 220791847 220791847 single base substitution T G missense_variant L250V 748T>G PACA-AU 1 220792598 220792598 single base substitution C T intron_variant PACA-AU 1 220796648 220796648 single base substitution T G intron_variant PACA-AU 1 220801273 220801273 single base substitution G A intron_variant PACA-AU 1 220804348 220804348 single base substitution C A intron_variant PACA-AU 1 220804538 220804538 single base substitution T A intron_variant PACA-AU 1 220805726 220805726 single base substitution G C intron_variant PACA-AU 1 220806856 220806856 single base substitution C T intron_variant PACA-AU 1 220807732 220807732 single base substitution C T intron_variant PACA-AU 1 220808314 220808314 single base substitution T C intron_variant PACA-AU 1 220809289 220809289 single base substitution C A missense_variant T329K 986C>A PACA-AU 1 220809289 220809289 single base substitution C A missense_variant T442K 1325C>A PACA-AU 1 220809289 220809289 single base substitution C A missense_variant T464K 1391C>A PACA-AU 1 220813160 220813160 single base substitution G A intron_variant PACA-AU 1 220814430 220814430 single base substitution A G intron_variant PACA-AU 1 220814501 220814501 single base substitution T C intron_variant PACA-AU 1 220815244 220815244 insertion of <=200bp - T intron_variant PACA-AU 1 220815439 220815439 single base substitution G A intron_variant PACA-AU 1 220815507 220815507 single base substitution C T intron_variant PACA-AU 1 220816504 220816504 single base substitution T A intron_variant PACA-AU 1 220819760 220819760 single base substitution G A intron_variant PACA-AU 1 220821062 220821062 deletion of <=200bp G - intron_variant PACA-AU 1 220822123 220822123 single base substitution A G intron_variant PACA-AU 1 220824855 220824855 single base substitution T G intron_variant PACA-AU 1 220826514 220826514 single base substitution G A missense_variant R468H 1403G>A PACA-AU 1 220826514 220826514 single base substitution G A missense_variant R581H 1742G>A PACA-AU 1 220826514 220826514 single base substitution G A missense_variant R603H 1808G>A PACA-AU 1 220826900 220826900 single base substitution G T intron_variant PACA-AU 1 220829480 220829480 single base substitution G A intron_variant PACA-AU 1 220834919 220834919 single base substitution T G intron_variant PACA-AU 1 220835828 220835828 single base substitution A G 3_prime_UTR_variant PACA-AU 1 220835828 220835828 single base substitution A G downstream_gene_variant PACA-AU 1 220840713 220840713 single base substitution A G downstream_gene_variant PACA-AU 1 220841703 220841703 single base substitution A C downstream_gene_variant PACA-AU 1 220842263 220842263 single base substitution C T downstream_gene_variant PACA-AU 1 220842356 220842356 single base substitution C A downstream_gene_variant PACA-CA 1 220698296 220698296 deletion of <=200bp T - upstream_gene_variant PACA-CA 1 220699782 220699782 single base substitution A G upstream_gene_variant PACA-CA 1 220705095 220705095 single base substitution G T intron_variant PACA-CA 1 220705906 220705906 single base substitution G A intron_variant PACA-CA 1 220707389 220707389 single base substitution A G intron_variant PACA-CA 1 220707426 220707426 single base substitution T G intron_variant PACA-CA 1 220708757 220708757 single base substitution A T intron_variant PACA-CA 1 220710713 220710713 single base substitution G C intron_variant PACA-CA 1 220716044 220716044 insertion of <=200bp - T intron_variant PACA-CA 1 220716155 220716155 single base substitution T A intron_variant PACA-CA 1 220716904 220716904 single base substitution G A intron_variant PACA-CA 1 220717038 220717038 single base substitution G A intron_variant PACA-CA 1 220717948 220717948 single base substitution G A intron_variant PACA-CA 1 220717965 220717965 single base substitution C T intron_variant PACA-CA 1 220718500 220718500 single base substitution G A intron_variant PACA-CA 1 220720182 220720182 single base substitution C T intron_variant PACA-CA 1 220720229 220720229 single base substitution G T intron_variant PACA-CA 1 220721198 220721198 single base substitution G A intron_variant PACA-CA 1 220724740 220724740 single base substitution G A intron_variant PACA-CA 1 220725680 220725680 single base substitution T G intron_variant PACA-CA 1 220725682 220725682 single base substitution A T intron_variant PACA-CA 1 220726961 220726961 single base substitution G C intron_variant PACA-CA 1 220727681 220727681 single base substitution G T intron_variant PACA-CA 1 220730982 220730982 insertion of <=200bp - A intron_variant PACA-CA 1 220732879 220732879 single base substitution C T intron_variant PACA-CA 1 220736501 220736501 single base substitution G A intron_variant PACA-CA 1 220738905 220738905 single base substitution C T intron_variant PACA-CA 1 220743314 220743314 single base substitution T A intron_variant PACA-CA 1 220743488 220743488 single base substitution T G intron_variant PACA-CA 1 220744839 220744839 single base substitution C A intron_variant PACA-CA 1 220745339 220745339 single base substitution G C intron_variant PACA-CA 1 220746529 220746529 single base substitution G A intron_variant PACA-CA 1 220747884 220747884 single base substitution G A intron_variant PACA-CA 1 220748398 220748398 single base substitution G T intron_variant PACA-CA 1 220750149 220750149 single base substitution C T intron_variant PACA-CA 1 220750455 220750455 insertion of <=200bp - A intron_variant PACA-CA 1 220753760 220753760 single base substitution G A downstream_gene_variant PACA-CA 1 220753760 220753760 single base substitution G A intron_variant PACA-CA 1 220760985 220760985 single base substitution T A intron_variant PACA-CA 1 220761102 220761102 single base substitution C A intron_variant PACA-CA 1 220763576 220763576 single base substitution G T intron_variant PACA-CA 1 220765234 220765234 single base substitution G A intron_variant PACA-CA 1 220766116 220766116 single base substitution G T intron_variant PACA-CA 1 220772856 220772856 single base substitution G A intron_variant PACA-CA 1 220774248 220774248 single base substitution A T intron_variant PACA-CA 1 220776140 220776140 single base substitution G A intron_variant PACA-CA 1 220778824 220778828 deletion of <=200bp TTTAT - intron_variant PACA-CA 1 220780932 220780932 single base substitution G A intron_variant PACA-CA 1 220781210 220781210 single base substitution G A intron_variant PACA-CA 1 220782085 220782085 single base substitution C G intron_variant PACA-CA 1 220784801 220784801 single base substitution C T intron_variant PACA-CA 1 220786129 220786129 single base substitution G T intron_variant PACA-CA 1 220787090 220787090 single base substitution A C intron_variant PACA-CA 1 220787139 220787139 single base substitution G T intron_variant PACA-CA 1 220788322 220788322 single base substitution A C intron_variant PACA-CA 1 220789361 220789361 insertion of <=200bp - A intron_variant PACA-CA 1 220791831 220791831 single base substitution C T synonymous_variant G109G 327C>T PACA-CA 1 220791831 220791831 single base substitution C T synonymous_variant G222G 666C>T PACA-CA 1 220791831 220791831 single base substitution C T synonymous_variant G244G 732C>T PACA-CA 1 220793559 220793559 deletion of <=200bp A - intron_variant PACA-CA 1 220796087 220796087 single base substitution G A intron_variant PACA-CA 1 220796781 220796781 single base substitution C T intron_variant PACA-CA 1 220797282 220797282 single base substitution C T intron_variant PACA-CA 1 220798055 220798064 deletion of <=200bp GATATGAAGT - intron_variant PACA-CA 1 220798379 220798379 single base substitution T C intron_variant PACA-CA 1 220800541 220800541 single base substitution G A intron_variant PACA-CA 1 220803905 220803905 single base substitution T A intron_variant PACA-CA 1 220804401 220804401 single base substitution A G missense_variant N177D 529A>G PACA-CA 1 220804401 220804401 single base substitution A G missense_variant N290D 868A>G PACA-CA 1 220804401 220804401 single base substitution A G missense_variant N312D 934A>G PACA-CA 1 220804873 220804873 single base substitution T C intron_variant PACA-CA 1 220805533 220805533 single base substitution A C intron_variant PACA-CA 1 220806248 220806248 single base substitution T C intron_variant PACA-CA 1 220806283 220806283 single base substitution C T intron_variant PACA-CA 1 220807110 220807110 single base substitution A G intron_variant PACA-CA 1 220808986 220808986 single base substitution T G intron_variant PACA-CA 1 220809557 220809557 single base substitution G A intron_variant PACA-CA 1 220814332 220814332 deletion of <=200bp A - intron_variant PACA-CA 1 220814577 220814577 single base substitution C A intron_variant PACA-CA 1 220817566 220817566 single base substitution T A intron_variant PACA-CA 1 220820480 220820480 deletion of <=200bp T - intron_variant PACA-CA 1 220821431 220821431 insertion of <=200bp - A intron_variant PACA-CA 1 220821513 220821513 single base substitution A G intron_variant PACA-CA 1 220822083 220822083 single base substitution A T intron_variant PACA-CA 1 220822580 220822580 single base substitution T G intron_variant PACA-CA 1 220824296 220824296 single base substitution C A intron_variant PACA-CA 1 220826573 220826573 single base substitution C T missense_variant R488C 1462C>T PACA-CA 1 220826573 220826573 single base substitution C T missense_variant R601C 1801C>T PACA-CA 1 220826573 220826573 single base substitution C T missense_variant R623C 1867C>T PACA-CA 1 220826579 220826579 single base substitution G A missense_variant V490I 1468G>A PACA-CA 1 220826579 220826579 single base substitution G A missense_variant V603I 1807G>A PACA-CA 1 220826579 220826579 single base substitution G A missense_variant V625I 1873G>A PACA-CA 1 220831606 220831606 single base substitution A G intron_variant PACA-CA 1 220835090 220835090 single base substitution G A intron_variant PACA-CA 1 220835769 220835770 deletion of <=200bp TG - 3_prime_UTR_variant PACA-CA 1 220836363 220836363 single base substitution C T 3_prime_UTR_variant PACA-CA 1 220836363 220836363 single base substitution C T downstream_gene_variant PACA-CA 1 220838957 220838957 deletion of <=200bp A - downstream_gene_variant PACA-CA 1 220839544 220839544 single base substitution A G downstream_gene_variant PACA-CA 1 220842040 220842040 deletion of <=200bp T - downstream_gene_variant PACA-CA 1 220842234 220842234 single base substitution G T downstream_gene_variant PACA-CA 1 220842331 220842331 single base substitution C G downstream_gene_variant PAEN-AU 1 220698601 220698601 single base substitution T A upstream_gene_variant PAEN-AU 1 220726196 220726196 single base substitution A C intron_variant PAEN-AU 1 220759875 220759875 single base substitution G A intron_variant PAEN-AU 1 220769967 220769967 single base substitution T G intron_variant PAEN-IT 1 220744396 220744396 single base substitution C G intron_variant PAEN-IT 1 220801277 220801277 single base substitution G T intron_variant PAEN-IT 1 220803298 220803298 single base substitution T A intron_variant PBCA-DE 1 220704282 220704282 single base substitution T A intron_variant PBCA-DE 1 220710325 220710325 insertion of <=200bp - T intron_variant PBCA-DE 1 220710918 220710918 insertion of <=200bp - G intron_variant PBCA-DE 1 220725529 220725529 single base substitution G T intron_variant PBCA-DE 1 220730983 220730983 insertion of <=200bp - A intron_variant PBCA-DE 1 220734382 220734382 single base substitution G T intron_variant PBCA-DE 1 220734714 220734714 deletion of <=200bp T - intron_variant PBCA-DE 1 220745645 220745645 single base substitution G A intron_variant PBCA-DE 1 220752545 220752545 single base substitution G T intron_variant PBCA-DE 1 220771664 220771664 single base substitution C G intron_variant PBCA-DE 1 220777767 220777767 insertion of <=200bp - A intron_variant PBCA-DE 1 220779565 220779565 single base substitution G C intron_variant PBCA-DE 1 220780538 220780538 single base substitution G A intron_variant PBCA-DE 1 220783564 220783564 single base substitution G A intron_variant PBCA-DE 1 220789361 220789361 single base substitution T A intron_variant PBCA-DE 1 220802465 220802465 single base substitution T A intron_variant PBCA-DE 1 220806133 220806133 single base substitution C A intron_variant PBCA-DE 1 220815847 220815847 deletion of <=200bp G - intron_variant PBCA-DE 1 220834578 220834578 single base substitution C T intron_variant PBCA-DE 1 220834605 220834605 insertion of <=200bp - TG intron_variant PBCA-DE 1 220836874 220836874 single base substitution G A 3_prime_UTR_variant PBCA-DE 1 220836874 220836874 single base substitution G A downstream_gene_variant PRAD-CA 1 220728403 220728403 single base substitution T A intron_variant PRAD-CA 1 220729197 220729197 single base substitution A G intron_variant PRAD-CA 1 220752136 220752136 single base substitution T G intron_variant PRAD-CA 1 220760641 220760641 single base substitution T C intron_variant PRAD-CA 1 220764837 220764837 single base substitution C A intron_variant PRAD-CA 1 220770520 220770520 single base substitution A G intron_variant PRAD-CA 1 220770521 220770521 single base substitution C T intron_variant PRAD-CA 1 220774655 220774655 single base substitution G T intron_variant PRAD-CA 1 220780581 220780581 single base substitution T C intron_variant PRAD-CA 1 220781749 220781749 single base substitution T G intron_variant PRAD-CA 1 220809654 220809654 single base substitution T G intron_variant PRAD-CA 1 220811428 220811428 single base substitution T G intron_variant PRAD-CA 1 220817803 220817803 single base substitution C A intron_variant PRAD-CA 1 220821606 220821606 single base substitution T C intron_variant PRAD-CA 1 220840683 220840683 single base substitution A G downstream_gene_variant PRAD-UK 1 220699055 220699055 insertion of <=200bp - T upstream_gene_variant PRAD-UK 1 220699064 220699064 insertion of <=200bp - T upstream_gene_variant PRAD-UK 1 220705456 220705456 single base substitution C A intron_variant PRAD-UK 1 220728480 220728480 single base substitution G A intron_variant PRAD-UK 1 220731610 220731610 single base substitution C A intron_variant PRAD-UK 1 220739422 220739431 deletion of <=200bp TTGGGTAATG - intron_variant PRAD-UK 1 220765306 220765306 single base substitution C A intron_variant PRAD-UK 1 220781937 220781937 single base substitution C T intron_variant PRAD-UK 1 220782202 220782202 single base substitution G A intron_variant PRAD-UK 1 220782203 220782203 single base substitution C T intron_variant PRAD-UK 1 220804078 220804078 single base substitution T G intron_variant READ-US 1 220771679 220771679 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant READ-US 1 220771679 220771679 single base substitution C T stop_gained R106* 316C>T READ-US 1 220809308 220809308 single base substitution C T synonymous_variant S335S 1005C>T READ-US 1 220809308 220809308 single base substitution C T synonymous_variant S448S 1344C>T READ-US 1 220809308 220809308 single base substitution C T synonymous_variant S470S 1410C>T READ-US 1 220826513 220826513 single base substitution C T missense_variant R468C 1402C>T READ-US 1 220826513 220826513 single base substitution C T missense_variant R581C 1741C>T READ-US 1 220826513 220826513 single base substitution C T missense_variant R603C 1807C>T READ-US 1 220826685 220826685 single base substitution T C missense_variant F525S 1574T>C READ-US 1 220826685 220826685 single base substitution T C missense_variant F638S 1913T>C READ-US 1 220826685 220826685 single base substitution T C missense_variant F660S 1979T>C READ-US 1 220826690 220826690 single base substitution C T missense_variant R527C 1579C>T READ-US 1 220826690 220826690 single base substitution C T missense_variant R640C 1918C>T READ-US 1 220826690 220826690 single base substitution C T missense_variant R662C 1984C>T RECA-EU 1 220698974 220698974 single base substitution T A upstream_gene_variant RECA-EU 1 220702862 220702862 single base substitution G T intron_variant RECA-EU 1 220706466 220706466 single base substitution G T intron_variant RECA-EU 1 220715594 220715594 single base substitution T A intron_variant RECA-EU 1 220719156 220719156 single base substitution G A intron_variant RECA-EU 1 220728479 220728479 single base substitution C T intron_variant RECA-EU 1 220729845 220729845 single base substitution A C intron_variant RECA-EU 1 220734456 220734456 single base substitution G C intron_variant RECA-EU 1 220749916 220749916 single base substitution T A intron_variant RECA-EU 1 220751850 220751850 single base substitution G A intron_variant RECA-EU 1 220755019 220755019 single base substitution C T downstream_gene_variant RECA-EU 1 220755019 220755019 single base substitution C T intron_variant RECA-EU 1 220760667 220760667 single base substitution T C intron_variant RECA-EU 1 220783726 220783726 single base substitution T C intron_variant RECA-EU 1 220796665 220796665 single base substitution A T intron_variant RECA-EU 1 220800883 220800883 single base substitution T C intron_variant RECA-EU 1 220801143 220801143 single base substitution T A intron_variant RECA-EU 1 220802816 220802816 single base substitution T G intron_variant RECA-EU 1 220809035 220809035 single base substitution T C intron_variant RECA-EU 1 220810462 220810462 single base substitution A G intron_variant RECA-EU 1 220813840 220813840 single base substitution T G intron_variant RECA-EU 1 220816731 220816731 single base substitution A G intron_variant RECA-EU 1 220818189 220818189 single base substitution A T intron_variant RECA-EU 1 220821339 220821339 single base substitution C A intron_variant RECA-EU 1 220825074 220825074 single base substitution A C intron_variant RECA-EU 1 220826744 220826744 single base substitution G A intron_variant RECA-EU 1 220833944 220833944 single base substitution T C intron_variant RECA-EU 1 220841488 220841488 single base substitution T C downstream_gene_variant SKCA-BR 1 220698583 220698583 single base substitution G A upstream_gene_variant SKCA-BR 1 220699104 220699104 single base substitution A G upstream_gene_variant SKCA-BR 1 220699109 220699109 single base substitution G T upstream_gene_variant SKCA-BR 1 220699161 220699161 single base substitution G A upstream_gene_variant SKCA-BR 1 220699706 220699706 single base substitution A G upstream_gene_variant SKCA-BR 1 220702008 220702008 single base substitution T C 5_prime_UTR_variant SKCA-BR 1 220702008 220702008 single base substitution T C upstream_gene_variant SKCA-BR 1 220702652 220702652 single base substitution C T intron_variant SKCA-BR 1 220704870 220704870 single base substitution C T intron_variant SKCA-BR 1 220706353 220706353 insertion of <=200bp - TA intron_variant SKCA-BR 1 220708351 220708351 single base substitution A G intron_variant SKCA-BR 1 220708909 220708909 single base substitution C T intron_variant SKCA-BR 1 220710571 220710571 single base substitution C T intron_variant SKCA-BR 1 220712374 220712374 single base substitution C T intron_variant SKCA-BR 1 220714714 220714714 single base substitution G T intron_variant SKCA-BR 1 220715447 220715447 single base substitution C T intron_variant SKCA-BR 1 220719247 220719247 single base substitution C T intron_variant SKCA-BR 1 220720912 220720912 single base substitution T A intron_variant SKCA-BR 1 220724023 220724023 single base substitution G A intron_variant SKCA-BR 1 220725452 220725452 single base substitution A C intron_variant SKCA-BR 1 220727667 220727667 single base substitution C T intron_variant SKCA-BR 1 220729845 220729845 insertion of <=200bp - AC intron_variant SKCA-BR 1 220729845 220729845 single base substitution A C intron_variant SKCA-BR 1 220733930 220733930 single base substitution G A intron_variant SKCA-BR 1 220736099 220736099 single base substitution C T intron_variant SKCA-BR 1 220736222 220736222 single base substitution G A intron_variant SKCA-BR 1 220737074 220737074 single base substitution C T intron_variant SKCA-BR 1 220738787 220738787 single base substitution G A intron_variant SKCA-BR 1 220741232 220741232 single base substitution C T intron_variant SKCA-BR 1 220741550 220741550 single base substitution A G intron_variant SKCA-BR 1 220742520 220742520 single base substitution C T intron_variant SKCA-BR 1 220743446 220743446 single base substitution T C intron_variant SKCA-BR 1 220745584 220745584 single base substitution C T intron_variant SKCA-BR 1 220745872 220745872 single base substitution A C intron_variant SKCA-BR 1 220745873 220745873 single base substitution C T intron_variant SKCA-BR 1 220747135 220747146 deletion of <=200bp GTATATGTAGTA - intron_variant SKCA-BR 1 220747734 220747734 single base substitution C T intron_variant SKCA-BR 1 220748430 220748430 single base substitution A G intron_variant SKCA-BR 1 220750567 220750567 single base substitution C T intron_variant SKCA-BR 1 220752015 220752015 single base substitution G T intron_variant SKCA-BR 1 220754591 220754592 deletion of <=200bp TA - downstream_gene_variant SKCA-BR 1 220754591 220754592 deletion of <=200bp TA - intron_variant SKCA-BR 1 220755609 220755609 single base substitution C T downstream_gene_variant SKCA-BR 1 220755609 220755609 single base substitution C T intron_variant SKCA-BR 1 220760598 220760598 single base substitution C A intron_variant SKCA-BR 1 220761492 220761492 single base substitution T A intron_variant SKCA-BR 1 220762978 220762978 single base substitution C T intron_variant SKCA-BR 1 220763058 220763058 single base substitution G A intron_variant SKCA-BR 1 220765454 220765454 single base substitution C T intron_variant SKCA-BR 1 220765576 220765576 single base substitution T C intron_variant SKCA-BR 1 220767064 220767064 single base substitution G A intron_variant SKCA-BR 1 220769367 220769367 single base substitution G A intron_variant SKCA-BR 1 220769545 220769545 single base substitution C T intron_variant SKCA-BR 1 220770093 220770093 single base substitution A C intron_variant SKCA-BR 1 220771740 220771740 insertion of <=200bp - TTA intron_variant SKCA-BR 1 220772128 220772128 single base substitution G A intron_variant SKCA-BR 1 220774216 220774216 single base substitution C T intron_variant SKCA-BR 1 220774418 220774418 single base substitution C T intron_variant SKCA-BR 1 220775240 220775240 single base substitution A C intron_variant SKCA-BR 1 220777438 220777438 single base substitution G A missense_variant G130R 388G>A SKCA-BR 1 220777438 220777438 single base substitution G A missense_variant G152R 454G>A SKCA-BR 1 220777438 220777438 single base substitution G A missense_variant G17R 49G>A SKCA-BR 1 220777972 220777972 single base substitution C T intron_variant SKCA-BR 1 220779161 220779161 single base substitution C T intron_variant SKCA-BR 1 220780537 220780537 single base substitution C T intron_variant SKCA-BR 1 220780554 220780554 single base substitution T G intron_variant SKCA-BR 1 220782720 220782720 single base substitution C T intron_variant SKCA-BR 1 220783032 220783032 single base substitution T G intron_variant SKCA-BR 1 220785197 220785197 single base substitution C T intron_variant SKCA-BR 1 220787686 220787686 single base substitution C T intron_variant SKCA-BR 1 220790819 220790819 single base substitution A C intron_variant SKCA-BR 1 220791783 220791783 single base substitution C T synonymous_variant F206F 618C>T SKCA-BR 1 220791783 220791783 single base substitution C T synonymous_variant F228F 684C>T SKCA-BR 1 220791783 220791783 single base substitution C T synonymous_variant F93F 279C>T SKCA-BR 1 220794466 220794466 single base substitution T G intron_variant SKCA-BR 1 220796447 220796447 single base substitution G A intron_variant SKCA-BR 1 220796593 220796593 single base substitution C T intron_variant SKCA-BR 1 220796809 220796809 single base substitution C G intron_variant SKCA-BR 1 220799060 220799060 single base substitution G A intron_variant SKCA-BR 1 220800031 220800031 single base substitution G T intron_variant SKCA-BR 1 220800511 220800511 single base substitution C T intron_variant SKCA-BR 1 220801642 220801642 single base substitution T A intron_variant SKCA-BR 1 220804184 220804184 single base substitution G A intron_variant SKCA-BR 1 220807568 220807568 single base substitution C T intron_variant SKCA-BR 1 220808030 220808030 single base substitution C T intron_variant SKCA-BR 1 220808334 220808334 single base substitution C T intron_variant SKCA-BR 1 220809657 220809657 single base substitution C T intron_variant SKCA-BR 1 220815180 220815180 single base substitution C T intron_variant SKCA-BR 1 220815252 220815252 single base substitution A G intron_variant SKCA-BR 1 220817165 220817165 single base substitution G A intron_variant SKCA-BR 1 220819337 220819337 single base substitution G A intron_variant SKCA-BR 1 220822793 220822793 single base substitution A C intron_variant SKCA-BR 1 220828498 220828498 single base substitution C T intron_variant SKCA-BR 1 220829707 220829707 single base substitution G A intron_variant SKCA-BR 1 220831173 220831173 single base substitution C T intron_variant SKCA-BR 1 220831173 220831173 single base substitution C T missense_variant S677L 2030C>T SKCA-BR 1 220836522 220836522 single base substitution A C 3_prime_UTR_variant SKCA-BR 1 220836522 220836522 single base substitution A C downstream_gene_variant SKCA-BR 1 220838858 220838858 single base substitution C T downstream_gene_variant SKCA-BR 1 220838983 220838983 single base substitution G A downstream_gene_variant SKCA-BR 1 220839459 220839459 single base substitution A G downstream_gene_variant SKCA-BR 1 220840723 220840723 single base substitution G A downstream_gene_variant SKCM-US 1 220752852 220752852 single base substitution A T 5_prime_UTR_variant SKCM-US 1 220752852 220752852 single base substitution A T downstream_gene_variant SKCM-US 1 220752852 220752852 single base substitution A T missense_variant N70Y 208A>T SKCM-US 1 220771689 220771689 single base substitution G A 5_prime_UTR_variant SKCM-US 1 220771689 220771689 single base substitution G A missense_variant R109Q 326G>A SKCM-US 1 220777408 220777408 single base substitution G A splice_acceptor_variant SKCM-US 1 220777410 220777410 single base substitution T G splice_region_variant SKCM-US 1 220777414 220777414 single base substitution G A missense_variant V122I 364G>A SKCM-US 1 220777414 220777414 single base substitution G A missense_variant V144I 430G>A SKCM-US 1 220777414 220777414 single base substitution G A missense_variant V9I 25G>A SKCM-US 1 220789319 220789319 single base substitution T C synonymous_variant I156I 468T>C SKCM-US 1 220789319 220789319 single base substitution T C synonymous_variant I178I 534T>C SKCM-US 1 220789319 220789319 single base substitution T C synonymous_variant I43I 129T>C SKCM-US 1 220789325 220789325 single base substitution C T synonymous_variant H158H 474C>T SKCM-US 1 220789325 220789325 single base substitution C T synonymous_variant H180H 540C>T SKCM-US 1 220789325 220789325 single base substitution C T synonymous_variant H45H 135C>T SKCM-US 1 220791732 220791732 single base substitution C G missense_variant N189K 567C>G SKCM-US 1 220791732 220791732 single base substitution C G missense_variant N211K 633C>G SKCM-US 1 220791732 220791732 single base substitution C G missense_variant N76K 228C>G SKCM-US 1 220791794 220791794 single base substitution A C missense_variant K210T 629A>C SKCM-US 1 220791794 220791794 single base substitution A C missense_variant K232T 695A>C SKCM-US 1 220791794 220791794 single base substitution A C missense_variant K97T 290A>C SKCM-US 1 220791985 220791985 single base substitution G A missense_variant R131Q 392G>A SKCM-US 1 220791985 220791985 single base substitution G A missense_variant R244Q 731G>A SKCM-US 1 220791985 220791985 single base substitution G A missense_variant R266Q 797G>A SKCM-US 1 220792011 220792011 single base substitution C T missense_variant R140C 418C>T SKCM-US 1 220792011 220792011 single base substitution C T missense_variant R253C 757C>T SKCM-US 1 220792011 220792011 single base substitution C T missense_variant R275C 823C>T SKCM-US 1 220792013 220792013 deletion of <=200bp T - frameshift_variant R140 SKCM-US 1 220792013 220792013 deletion of <=200bp T - frameshift_variant R253 SKCM-US 1 220792013 220792013 deletion of <=200bp T - frameshift_variant R275 SKCM-US 1 220792035 220792035 single base substitution G A missense_variant D148N 442G>A SKCM-US 1 220792035 220792035 single base substitution G A missense_variant D261N 781G>A SKCM-US 1 220792035 220792035 single base substitution G A missense_variant D283N 847G>A SKCM-US 1 220804394 220804394 single base substitution A G synonymous_variant R174R 522A>G SKCM-US 1 220804394 220804394 single base substitution A G synonymous_variant R287R 861A>G SKCM-US 1 220804394 220804394 single base substitution A G synonymous_variant R309R 927A>G SKCM-US 1 220804420 220804420 single base substitution A C missense_variant E183A 548A>C SKCM-US 1 220804420 220804420 single base substitution A C missense_variant E296A 887A>C SKCM-US 1 220804420 220804420 single base substitution A C missense_variant E318A 953A>C SKCM-US 1 220805570 220805570 single base substitution G A missense_variant R211Q 632G>A SKCM-US 1 220805570 220805570 single base substitution G A missense_variant R324Q 971G>A SKCM-US 1 220805570 220805570 single base substitution G A missense_variant R346Q 1037G>A SKCM-US 1 220805599 220805599 single base substitution C T stop_gained Q221* 661C>T SKCM-US 1 220805599 220805599 single base substitution C T stop_gained Q334* 1000C>T SKCM-US 1 220805599 220805599 single base substitution C T stop_gained Q356* 1066C>T SKCM-US 1 220805608 220805608 single base substitution G A missense_variant D224N 670G>A SKCM-US 1 220805608 220805608 single base substitution G A missense_variant D337N 1009G>A SKCM-US 1 220805608 220805608 single base substitution G A missense_variant D359N 1075G>A SKCM-US 1 220808746 220808746 single base substitution G A missense_variant G249E 746G>A SKCM-US 1 220808746 220808746 single base substitution G A missense_variant G362E 1085G>A SKCM-US 1 220808746 220808746 single base substitution G A missense_variant G384E 1151G>A SKCM-US 1 220824045 220824045 single base substitution G A synonymous_variant Q383Q 1149G>A SKCM-US 1 220824045 220824045 single base substitution G A synonymous_variant Q496Q 1488G>A SKCM-US 1 220824045 220824045 single base substitution G A synonymous_variant Q518Q 1554G>A SKCM-US 1 220824054 220824054 single base substitution A T missense_variant K386N 1158A>T SKCM-US 1 220824054 220824054 single base substitution A T missense_variant K499N 1497A>T SKCM-US 1 220824054 220824054 single base substitution A T missense_variant K521N 1563A>T SKCM-US 1 220825467 220825467 single base substitution G C missense_variant D436H 1306G>C SKCM-US 1 220825467 220825467 single base substitution G C missense_variant D549H 1645G>C SKCM-US 1 220825467 220825467 single base substitution G C missense_variant D571H 1711G>C SKCM-US 1 220826477 220826477 single base substitution G T missense_variant A456S 1366G>T SKCM-US 1 220826477 220826477 single base substitution G T missense_variant A569S 1705G>T SKCM-US 1 220826477 220826477 single base substitution G T missense_variant A591S 1771G>T SKCM-US 1 220826508 220826508 single base substitution G A missense_variant R466Q 1397G>A SKCM-US 1 220826508 220826508 single base substitution G A missense_variant R579Q 1736G>A SKCM-US 1 220826508 220826508 single base substitution G A missense_variant R601Q 1802G>A SKCM-US 1 220826519 220826519 single base substitution C T missense_variant P470S 1408C>T SKCM-US 1 220826519 220826519 single base substitution C T missense_variant P583S 1747C>T SKCM-US 1 220826519 220826519 single base substitution C T missense_variant P605S 1813C>T SKCM-US 1 220826538 220826538 single base substitution G A missense_variant R476Q 1427G>A SKCM-US 1 220826538 220826538 single base substitution G A missense_variant R589Q 1766G>A SKCM-US 1 220826538 220826538 single base substitution G A missense_variant R611Q 1832G>A SKCM-US 1 220835350 220835350 single base substitution C T missense_variant H594Y 1780C>T SKCM-US 1 220835350 220835350 single base substitution C T missense_variant H707Y 2119C>T SKCM-US 1 220835350 220835350 single base substitution C T missense_variant H744Y 2230C>T STAD-US 1 220791774 220791774 single base substitution C T synonymous_variant P203P 609C>T STAD-US 1 220791774 220791774 single base substitution C T synonymous_variant P225P 675C>T STAD-US 1 220791774 220791774 single base substitution C T synonymous_variant P90P 270C>T STAD-US 1 220808733 220808733 single base substitution T A missense_variant S245T 733T>A STAD-US 1 220808733 220808733 single base substitution T A missense_variant S358T 1072T>A STAD-US 1 220808733 220808733 single base substitution T A missense_variant S380T 1138T>A STAD-US 1 220809209 220809209 single base substitution C A synonymous_variant T302T 906C>A STAD-US 1 220809209 220809209 single base substitution C A synonymous_variant T415T 1245C>A STAD-US 1 220809209 220809209 single base substitution C A synonymous_variant T437T 1311C>A STAD-US 1 220824034 220824034 single base substitution G A missense_variant V380I 1138G>A STAD-US 1 220824034 220824034 single base substitution G A missense_variant V493I 1477G>A STAD-US 1 220824034 220824034 single base substitution G A missense_variant V515I 1543G>A STAD-US 1 220825398 220825398 single base substitution C T stop_gained R413* 1237C>T STAD-US 1 220825398 220825398 single base substitution C T stop_gained R526* 1576C>T STAD-US 1 220825398 220825398 single base substitution C T stop_gained R548* 1642C>T STAD-US 1 220825486 220825486 single base substitution G A missense_variant R442Q 1325G>A STAD-US 1 220825486 220825486 single base substitution G A missense_variant R555Q 1664G>A STAD-US 1 220825486 220825486 single base substitution G A missense_variant R577Q 1730G>A STAD-US 1 220826557 220826557 single base substitution A G synonymous_variant E482E 1446A>G STAD-US 1 220826557 220826557 single base substitution A G synonymous_variant E595E 1785A>G STAD-US 1 220826557 220826557 single base substitution A G synonymous_variant E617E 1851A>G STAD-US 1 220826691 220826691 single base substitution G A missense_variant R527H 1580G>A STAD-US 1 220826691 220826691 single base substitution G A missense_variant R640H 1919G>A STAD-US 1 220826691 220826691 single base substitution G A missense_variant R662H 1985G>A STAD-US 1 220835358 220835358 single base substitution C T synonymous_variant D596D 1788C>T STAD-US 1 220835358 220835358 single base substitution C T synonymous_variant D709D 2127C>T STAD-US 1 220835358 220835358 single base substitution C T synonymous_variant D746D 2238C>T STAD-US 1 220835431 220835431 single base substitution C T missense_variant R621C 1861C>T STAD-US 1 220835431 220835431 single base substitution C T missense_variant R734C 2200C>T STAD-US 1 220835431 220835431 single base substitution C T missense_variant R771C 2311C>T UCEC-US 1 220752806 220752806 single base substitution G A 5_prime_UTR_variant UCEC-US 1 220752806 220752806 single base substitution G A exon_variant UCEC-US 1 220752806 220752806 single base substitution G A synonymous_variant Q54Q 162G>A UCEC-US 1 220791712 220791712 single base substitution A G missense_variant N183D 547A>G UCEC-US 1 220791712 220791712 single base substitution A G missense_variant N205D 613A>G UCEC-US 1 220791712 220791712 single base substitution A G missense_variant N70D 208A>G UCEC-US 1 220791762 220791762 single base substitution C A synonymous_variant P199P 597C>A UCEC-US 1 220791762 220791762 single base substitution C A synonymous_variant P221P 663C>A UCEC-US 1 220791762 220791762 single base substitution C A synonymous_variant P86P 258C>A UCEC-US 1 220791812 220791812 single base substitution T G missense_variant V103G 308T>G UCEC-US 1 220791812 220791812 single base substitution T G missense_variant V216G 647T>G UCEC-US 1 220791812 220791812 single base substitution T G missense_variant V238G 713T>G UCEC-US 1 220791875 220791875 single base substitution G A missense_variant G124D 371G>A UCEC-US 1 220791875 220791875 single base substitution G A missense_variant G237D 710G>A UCEC-US 1 220791875 220791875 single base substitution G A missense_variant G259D 776G>A UCEC-US 1 220804392 220804392 single base substitution C T stop_gained R174* 520C>T UCEC-US 1 220804392 220804392 single base substitution C T stop_gained R287* 859C>T UCEC-US 1 220804392 220804392 single base substitution C T stop_gained R309* 925C>T UCEC-US 1 220805570 220805570 single base substitution G A missense_variant R211Q 632G>A UCEC-US 1 220805570 220805570 single base substitution G A missense_variant R324Q 971G>A UCEC-US 1 220805570 220805570 single base substitution G A missense_variant R346Q 1037G>A UCEC-US 1 220805615 220805615 single base substitution T A missense_variant V226D 677T>A UCEC-US 1 220805615 220805615 single base substitution T A missense_variant V339D 1016T>A UCEC-US 1 220805615 220805615 single base substitution T A missense_variant V361D 1082T>A UCEC-US 1 220805634 220805634 single base substitution T C synonymous_variant L232L 696T>C UCEC-US 1 220805634 220805634 single base substitution T C synonymous_variant L345L 1035T>C UCEC-US 1 220805634 220805634 single base substitution T C synonymous_variant L367L 1101T>C UCEC-US 1 220808767 220808767 single base substitution G A missense_variant R256Q 767G>A UCEC-US 1 220808767 220808767 single base substitution G A missense_variant R369Q 1106G>A UCEC-US 1 220808767 220808767 single base substitution G A missense_variant R391Q 1172G>A UCEC-US 1 220808827 220808827 single base substitution G T missense_variant R276I 827G>T UCEC-US 1 220808827 220808827 single base substitution G T missense_variant R389I 1166G>T UCEC-US 1 220808827 220808827 single base substitution G T missense_variant R411I 1232G>T UCEC-US 1 220809308 220809308 single base substitution C T synonymous_variant S335S 1005C>T UCEC-US 1 220809308 220809308 single base substitution C T synonymous_variant S448S 1344C>T UCEC-US 1 220809308 220809308 single base substitution C T synonymous_variant S470S 1410C>T UCEC-US 1 220809358 220809358 single base substitution C G missense_variant T352S 1055C>G UCEC-US 1 220809358 220809358 single base substitution C G missense_variant T465S 1394C>G UCEC-US 1 220809358 220809358 single base substitution C G missense_variant T487S 1460C>G UCEC-US 1 220825472 220825472 single base substitution C T synonymous_variant G437G 1311C>T UCEC-US 1 220825472 220825472 single base substitution C T synonymous_variant G550G 1650C>T UCEC-US 1 220825472 220825472 single base substitution C T synonymous_variant G572G 1716C>T UCEC-US 1 220826573 220826573 single base substitution C T missense_variant R488C 1462C>T UCEC-US 1 220826573 220826573 single base substitution C T missense_variant R601C 1801C>T UCEC-US 1 220826573 220826573 single base substitution C T missense_variant R623C 1867C>T UCEC-US 1 220826574 220826574 single base substitution G A missense_variant R488H 1463G>A UCEC-US 1 220826574 220826574 single base substitution G A missense_variant R601H 1802G>A UCEC-US 1 220826574 220826574 single base substitution G A missense_variant R623H 1868G>A UCEC-US 1 220826578 220826578 single base substitution C T synonymous_variant S489S 1467C>T UCEC-US 1 220826578 220826578 single base substitution C T synonymous_variant S602S 1806C>T UCEC-US 1 220826578 220826578 single base substitution C T synonymous_variant S624S 1872C>T UCEC-US 1 220835410 220835410 single base substitution C T stop_gained R614* 1840C>T UCEC-US 1 220835410 220835410 single base substitution C T stop_gained R727* 2179C>T UCEC-US 1 220835410 220835410 single base substitution C T stop_gained R764* 2290C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand sysucc-311T COSM1214572 c.2096C>A p.S699Y Substitution - Missense 1:220661874-220661874 + CSCC-44-T COSM4500513 c.567C>T p.L189L Substitution - coding silent 1:220618324-220618324 + YURAY COSM5379699 c.2236G>A p.D746N Substitution - Missense 1:220662014-220662014 + TCGA-34-5928-01 COSM678438 c.616G>A p.E206K Substitution - Missense 1:220618373-220618373 + TCGA-CG-5723-01 COSM4028417 c.2311C>T p.R771C Substitution - Missense 1:220662089-220662089 + 12924 COSM5613923 c.2086A>T p.K696* Substitution - Nonsense 1:220661864-220661864 + CHC1704T COSM4804179 c.2343C>T p.A781A Substitution - coding silent 1:220662121-220662121 + TCGA-AP-A0LM-01 COSM904175 c.1716C>T p.G572G Substitution - coding silent 1:220652130-220652130 + TCGA-B8-5549-01 COSM463963 c.2179G>T p.A727S Substitution - Missense 1:220661957-220661957 + TCGA-08-0385-01 COSM42638 c.1340G>A p.S447N Substitution - Missense 1:220635896-220635896 + PCSI_0083_Pa_X COSM3785152 c.934A>G p.N312D Substitution - Missense 1:220631059-220631059 + 259091 COSM3725153 c.598G>T p.D200Y Substitution - Missense 1:220618355-220618355 + TCGA-EE-A184-06 COSM3483875 c.1771G>T p.A591S Substitution - Missense 1:220653135-220653135 + YURAY COSM5379698 c.2086A>G p.K696E Substitution - Missense 1:220661864-220661864 + GC8_T COSM146777 c.984G>A p.P328P Substitution - coding silent 1:220631109-220631109 + TCGA-CA-6717-01 COSM1339008 c.2101C>T p.R701W Substitution - Missense 1:220661879-220661879 + TCGA-EE-A2MS-06 COSM3483876 c.1813C>T p.P605S Substitution - Missense 1:220653177-220653177 + 177-01-9TD COSM5416079 c.899G>A p.G300D Substitution - Missense 1:220618745-220618745 + TCGA-AP-A051-01 COSM904178 c.1872C>T p.S624S Substitution - coding silent 1:220653236-220653236 + ATL044 COSM5705218 c.2179G>A p.A727T Substitution - Missense 1:220661957-220661957 + LUAD-NYU195 COSM370993 c.1466C>G p.P489R Substitution - Missense 1:220636022-220636022 + 8066464 COSM3771630 c.1391C>A p.T464K Substitution - Missense 1:220635947-220635947 + TCGA-CM-4743-01 COSM1339007 c.2094T>A p.R698R Substitution - coding silent 1:220661872-220661872 + CHEWS006 COSM4576920 c.1659G>A p.K553K Substitution - coding silent 1:220652073-220652073 + TCGA-B5-A11E-01 COSM904173 c.1410C>T p.S470S Substitution - coding silent 1:220635966-220635966 + TCGA-AA-3510-01 COSM1338992 c.86T>C p.I29T Substitution - Missense 1:220579388-220579388 + TCGA-D1-A17Q-01 COSM904168 c.1082T>A p.V361D Substitution - Missense 1:220632273-220632273 + 49 COSM904161 c.613A>G p.N205D Substitution - Missense 1:220618370-220618370 + Pat_28_B COSM5845547 c.495+1G>A p.? Unknown 1:220604138-220604138 + Gp2D COSM904154 c.162G>A p.Q54Q Substitution - coding silent 1:220579464-220579464 + HCC2998 COSM1668492 c.382A>G p.T128A Substitution - Missense 1:220599821-220599821 + GC8_T COSM146776 c.630G>T p.G210G Substitution - coding silent 1:220618387-220618387 + CLL048 COSM1290120 c.663C>T p.P221P Substitution - coding silent 1:220618420-220618420 + TCGA-EE-A3AF-06 COSM3483877 c.1832G>A p.R611Q Substitution - Missense 1:220653196-220653196 + T256 COSM4700709 c.375T>G p.V125V Substitution - coding silent 1:220599814-220599814 + C086 COSM5534285 c.253G>A p.E85K Substitution - Missense 1:220579555-220579555 + S0045 COSM5881648 c.1243G>T p.A415S Substitution - Missense 1:220635496-220635496 + Sample_1 COSM4997553 c.1944G>A p.T648T Substitution - coding silent 1:220653308-220653308 + HCC2998 COSM1668496 c.1316G>T p.R439I Substitution - Missense 1:220635872-220635872 + TCGA-C8-A12P-01 COSM425357 c.985G>A p.D329N Substitution - Missense 1:220631110-220631110 + tumor_4136702 COSM5948048 c.255+9G>A p.? Unknown 1:220579566-220579566 + B59 COSM1748165 c.342G>T p.L114L Substitution - coding silent 1:220598363-220598363 + UM-SCC-17B COSM4598497 c.1943C>T p.T648M Substitution - Missense 1:220653307-220653307 + 578 COSM3722477 c.931A>T p.M311L Substitution - Missense 1:220631056-220631056 + C135 COSM4617338 c.14C>T p.T5M Substitution - Missense 1:220528836-220528836 + 7945 COSM5613922 c.1846delG p.G616fs*37 Deletion - Frameshift 1:220653210-220653210 + TCGA-EE-A3AE-06 COSM3483860 c.326G>A p.R109Q Substitution - Missense 1:220598347-220598347 + HCC2998 COSM1668494 c.859C>T p.L287F Substitution - Missense 1:220618705-220618705 + PT48 COSM3483876 c.1813C>T p.P605S Substitution - Missense 1:220653177-220653177 + 10-P8045 COSM4576923 c.2097T>C p.S699S Substitution - coding silent 1:220661875-220661875 + CSCC-47-T COSM4472232 c.1769C>T p.S590F Substitution - Missense 1:220653133-220653133 + TCGA-AG-3726-01 COSM288226 c.1759G>T p.A587S Substitution - Missense 1:220653123-220653123 + ME032T COSM227207 c.949G>A p.E317K Substitution - Missense 1:220631074-220631074 + TCGA-GN-A266-06 COSM3483861 c.425-1G>A p.? Unknown 1:220604066-220604066 + PCSI_0235_Pa_P_526 COSM1290121 c.1873G>A p.V625I Substitution - Missense 1:220653237-220653237 + T3724 COSM4700710 c.542G>A p.R181H Substitution - Missense 1:220615985-220615985 + 587376 COSM904166 c.925C>T p.R309* Substitution - Nonsense 1:220631050-220631050 + ICGC_MB102 COSM3764154 c.310-9C>G p.? Unknown 1:220598322-220598322 + TCGA-GN-A266-06 COSM3483859 c.208A>T p.N70Y Substitution - Missense 1:220579510-220579510 + LUAD-B02477 COSM335858 c.1633C>A p.P545T Substitution - Missense 1:220652047-220652047 + T3091 COSM4700707 c.128G>A p.C43Y Substitution - Missense 1:220579430-220579430 + CHC1597T COSM4787803 c.1723G>T p.A575S Substitution - Missense 1:220652137-220652137 + Gp5D COSM904154 c.162G>A p.Q54Q Substitution - coding silent 1:220579464-220579464 + TCGA-BP-4974-01 COSM463962 c.2128A>G p.S710G Substitution - Missense 1:220661906-220661906 + TCGA-AP-A05P-01 COSM904181 c.2386T>G p.*796E Nonstop extension 1:220662164-220662164 + TCGA-FD-A3B6-01 COSM1295889 c.862C>A p.L288M Substitution - Missense 1:220618708-220618708 + TCGA-IR-A3LK-01 COSM4817440 c.990C>T p.F330F Substitution - coding silent 1:220631115-220631115 + TCGA-AZ-4315-01 COSM904167 c.1037G>A p.R346Q Substitution - Missense 1:220632228-220632228 + TCGA-FW-A3R5-06 COSM1959276 c.823C>T p.R275C Substitution - Missense 1:220618669-220618669 + 6115237 COSM5547234 c.469delA p.E158fs*37 Deletion - Frameshift 1:220604111-220604111 + TCGA-G4-6309-01 COSM1338993 c.426T>C p.G142G Substitution - coding silent 1:220604068-220604068 + 72 COSM5014185 c.205G>A p.G69R Substitution - Missense 1:220579507-220579507 + STC297 COSM5053115 c.1713C>T p.D571D Substitution - coding silent 1:220652127-220652127 + 2334196 COSM321592 c.2308G>T p.V770F Substitution - Missense 1:220662086-220662086 + B59-Tumor COSM1748165 c.342G>T p.L114L Substitution - coding silent 1:220598363-220598363 + TCGA-EE-A3J5-06 COSM3483869 c.1066C>T p.Q356* Substitution - Nonsense 1:220632257-220632257 + TCGA-BR-8487-01 COSM4028413 c.1730G>A p.R577Q Substitution - Missense 1:220652144-220652144 + PD1404a COSM20800 c.698A>G p.Y233C Substitution - Missense 1:220618455-220618455 + LUAD-RT-S01777 COSM381774 c.1424G>T p.S475I Substitution - Missense 1:220635980-220635980 + TCGA-EE-A2MR-06 COSM3483866 c.540C>T p.H180H Substitution - coding silent 1:220615983-220615983 + PT21_2 COSM5901056 c.1283C>T p.P428L Substitution - Missense 1:220635839-220635839 + TCGA-25-1326-01 COSM80153 c.1209C>G p.S403S Substitution - coding silent 1:220635462-220635462 + TCGA-AA-3833-01 COSM271380 c.390G>A p.K130K Substitution - coding silent 1:220599829-220599829 + 24T COSM106596 c.1295C>T p.P432L Substitution - Missense 1:220635851-220635851 + B59 COSM1748164 c.332T>C p.M111T Substitution - Missense 1:220598353-220598353 + OCC03PT COSM88597 c.1714G>A p.G572S Substitution - Missense 1:220652128-220652128 + TCGA-HT-8564-01 COSM3966281 c.803G>A p.R268Q Substitution - Missense 1:220618649-220618649 + PCSI_0302_Pa_P_526 COSM4808453 c.732C>T p.G244G Substitution - coding silent 1:220618489-220618489 + TCGA-C8-A12X-01 COSM425359 c.2113A>G p.S705G Substitution - Missense 1:220661891-220661891 + TCGA-CG-5721-01 COSM4028414 c.1851A>G p.E617E Substitution - coding silent 1:220653215-220653215 + PT21_2 COSM5901055 c.1099C>T p.L367F Substitution - Missense 1:220632290-220632290 + BCM683T COSM532865 c.1610G>C p.G537A Substitution - Missense 1:220652024-220652024 + TCGA-BR-4366-01 COSM174190 c.1642C>T p.R548* Substitution - Nonsense 1:220652056-220652056 + T96 COSM4700708 c.249_250insAA p.R84fs*6 Insertion - Frameshift 1:220579551-220579552 + TCGA-D3-A51G-06 COSM3483863 c.430G>A p.V144I Substitution - Missense 1:220604072-220604072 + CHC892T COSM4795567 c.704G>A p.G235E Substitution - Missense 1:220618461-220618461 + 46M COSM5588249 c.206G>A p.G69E Substitution - Missense 1:220579508-220579508 + TCGA-AA-3821-01 COSM294546 c.2036G>C p.S679T Substitution - Missense 1:220661814-220661814 + TCGA-AX-A05Z-01 COSM904166 c.925C>T p.R309* Substitution - Nonsense 1:220631050-220631050 + SNU-C2B COSM1959271 c.676G>A p.E226K Substitution - Missense 1:220618433-220618433 + 3101B7_032_T COSM5041286 c.106A>G p.S36G Substitution - Missense 1:220579408-220579408 + RK308_C01 COSM3741017 c.695A>C p.K232T Substitution - Missense 1:220618452-220618452 + CHC892T COSM4795567 c.704G>A p.G235E Substitution - Missense 1:220618461-220618461 + 8015259 COSM218383 c.748T>G p.L250V Substitution - Missense 1:220618505-220618505 + YUOTHO COSM5379696 c.1227C>T p.V409V Substitution - coding silent 1:220635480-220635480 + TCGA-F5-6814-01 COSM3418781 c.1979T>C p.F660S Substitution - Missense 1:220653343-220653343 + TCGA-B5-A0JY-01 COSM904163 c.713T>G p.V238G Substitution - Missense 1:220618470-220618470 + SNU-175 COSM1959298 c.1596C>T p.S532S Substitution - coding silent 1:220652010-220652010 + Gp2D COSM1959263 c.413A>G p.Y138C Substitution - Missense 1:220599852-220599852 + STC232 COSM1959300 c.1649G>A p.R550H Substitution - Missense 1:220652063-220652063 + 8066503 COSM3771631 c.1808G>A p.R603H Substitution - Missense 1:220653172-220653172 + 587316 COSM1214571 c.2089C>T p.P697S Substitution - Missense 1:220661867-220661867 + C086 COSM3483876 c.1813C>T p.P605S Substitution - Missense 1:220653177-220653177 + PD11395a COSM5797258 c.1864C>T p.R622* Substitution - Nonsense 1:220653228-220653228 + TCGA-GN-A266-06 COSM3483871 c.1151G>A p.G384E Substitution - Missense 1:220635404-220635404 + TCGA-22-4591-01 COSM678440 c.461T>G p.M154R Substitution - Missense 1:220604103-220604103 + sysucc-880T COSM5462190 c.424+10A>G p.? Unknown 1:220599873-220599873 + TCGA-FS-A1ZA-06 COSM3483878 c.2230C>T p.H744Y Substitution - Missense 1:220662008-220662008 + TCGA-AP-A059-01 COSM904169 c.1101T>C p.L367L Substitution - coding silent 1:220632292-220632292 + HCC007T COSM5808965 c.1777A>G p.S593G Substitution - Missense 1:220653141-220653141 + TCGA-D1-A17H-01 COSM904172 c.1372G>T p.A458S Substitution - Missense 1:220635928-220635928 + LUAD-YINHD COSM349971 c.693G>C p.K231N Substitution - Missense 1:220618450-220618450 + 587328 COSM1214570 c.2165G>A p.R722Q Substitution - Missense 1:220661943-220661943 + TCGA-FW-A3R5-06 COSM3864529 c.797G>A p.R266Q Substitution - Missense 1:220618643-220618643 + 2497780 COSM5750784 c.1382T>C p.L461P Substitution - Missense 1:220635938-220635938 + PD1404a COSM20800 c.698A>G p.Y233C Substitution - Missense 1:220618455-220618455 + TCGA-B8-4154-01 COSM463961 c.1472A>G p.N491S Substitution - Missense 1:220650621-220650621 + TCGA-A2-A25A-01 COSM1473418 c.1730G>T p.R577L Substitution - Missense 1:220652144-220652144 + TCGA-D8-A1JG-01 COSM1473417 c.1527G>A p.R509R Substitution - coding silent 1:220650676-220650676 + TCGA-43-6771-01 COSM678435 c.1470+1G>C p.? Unknown 1:220636027-220636027 + ICGC_0017 COSM1158742 c.2385G>C p.L795L Substitution - coding silent 1:220662163-220662163 + EW8 COSM1959257 c.172G>A p.G58R Substitution - Missense 1:220579474-220579474 + YURAY COSM5379695 c.981T>G p.D327E Substitution - Missense 1:220631106-220631106 + UACC-62 COSM1668490 c.182G>A p.R61H Substitution - Missense 1:220579484-220579484 + pfg009T COSM20800 c.698A>G p.Y233C Substitution - Missense 1:220618455-220618455 + GHE0605 COSM1339008 c.2101C>T p.R701W Substitution - Missense 1:220661879-220661879 + 174T COSM1725957 c.1871G>T p.S624I Substitution - Missense 1:220653235-220653235 + TCGA-DK-A3WW-01 COSM3789506 c.222C>T p.V74V Substitution - coding silent 1:220579524-220579524 + C32 COSM4618990 c.2217G>C p.L739F Substitution - Missense 1:220661995-220661995 + TCGA-EE-A2MU-06 COSM3483867 c.847G>A p.D283N Substitution - Missense 1:220618693-220618693 + HCC009T COSM5819814 c.1669A>T p.T557S Substitution - Missense 1:220652083-220652083 + TCGA-GC-A3RC-01 COSM3789507 c.1673C>G p.S558C Substitution - Missense 1:220652087-220652087 + KM12 COSM1668493 c.454G>T p.G152* Substitution - Nonsense 1:220604096-220604096 + HCC19 COSM1601667 c.1150G>A p.G384R Substitution - Missense 1:220635403-220635403 + TCGA-B0-5098-01 COSM1491954 c.1261C>T p.R421C Substitution - Missense 1:220635514-220635514 + TCGA-B0-5707-01 COSM463958 c.415G>A p.A139T Substitution - Missense 1:220599854-220599854 + ESCC_122 COSM5640598 c.761C>T p.S254F Substitution - Missense 1:220618518-220618518 + TCGA-02-0071-01 COSM1559279 c.1219C>G p.L407V Substitution - Missense 1:220635472-220635472 + TCGA-A6-5665-01 COSM1339005 c.1537C>T p.R513* Substitution - Nonsense 1:220650686-220650686 + TCGA-BG-A0VT-01 COSM904181 c.2386T>G p.*796E Nonstop extension 1:220662164-220662164 + HCC2998 COSM1668498 c.2219T>G p.L740R Substitution - Missense 1:220661997-220661997 + TCGA-A6-6781-01 COSM1339009 c.2280C>T p.C760C Substitution - coding silent 1:220662058-220662058 + T47 COSM1177611 c.1559G>T p.G520V Substitution - Missense 1:220650708-220650708 + B59-3-Tumor COSM1748166 c.1467A>T p.P489P Substitution - coding silent 1:220636023-220636023 + 61 COSM5735845 c.814G>T p.G272W Substitution - Missense 1:220618660-220618660 + HCC19T COSM1601667 c.1150G>A p.G384R Substitution - Missense 1:220635403-220635403 + TCGA-EE-A20C-06 COSM287384 c.1802G>A p.R601Q Substitution - Missense 1:220653166-220653166 + TCGA-IH-A3EA-01 COSM3483868 c.927A>G p.R309R Substitution - coding silent 1:220631052-220631052 + TCGA-D7-A4YV-01 COSM4028408 c.675C>T p.P225P Substitution - coding silent 1:220618432-220618432 + TCGA-HU-A4G8-01 COSM4028411 c.1311C>A p.T437T Substitution - coding silent 1:220635867-220635867 + TCGA-D1-A17Q-01 COSM904171 c.1232G>T p.R411I Substitution - Missense 1:220635485-220635485 + Patient_5 COSM5414545 c.1562A>G p.K521R Substitution - Missense 1:220650711-220650711 + PD0884a COSM20801 c.1064A>C p.N355T Substitution - Missense 1:220632255-220632255 + PCSI_0075_Pa_P COSM904176 c.1867C>T p.R623C Substitution - Missense 1:220653231-220653231 + TCGA-F5-6814-01 COSM904173 c.1410C>T p.S470S Substitution - coding silent 1:220635966-220635966 + C106 COSM4616183 c.1801C>T p.R601W Substitution - Missense 1:220653165-220653165 + HCC2998 COSM1668496 c.1316G>T p.R439I Substitution - Missense 1:220635872-220635872 + C135 COSM4617339 c.479G>A p.R160H Substitution - Missense 1:220604121-220604121 + SW620 COSM1959292 c.1230G>T p.Q410H Substitution - Missense 1:220635483-220635483 + 8014771 COSM1158742 c.2385G>C p.L795L Substitution - coding silent 1:220662163-220662163 + Gp5D COSM1959263 c.413A>G p.Y138C Substitution - Missense 1:220599852-220599852 + 383 COSM4426680 c.2244A>T p.R748S Substitution - Missense 1:220662022-220662022 + TCGA-08-0344-01 COSM42639 c.1369G>T p.V457L Substitution - Missense 1:220635925-220635925 + YUAKER COSM1689881 c.1909G>A p.E637K Substitution - Missense 1:220653273-220653273 + TCGA-EE-A3AB-06 COSM3483874 c.1711G>C p.D571H Substitution - Missense 1:220652125-220652125 + LUAD-S01315 COSM344973 c.2109A>T p.T703T Substitution - coding silent 1:220661887-220661887 + CHC892T COSM4797173 c.1743C>T p.T581T Substitution - coding silent 1:220653107-220653107 + TCGA-22-1016-01 COSM678437 c.878T>C p.V293A Substitution - Missense 1:220618724-220618724 + TCGA-BS-A0UM-01 COSM904179 c.2115T>C p.S705S Substitution - coding silent 1:220661893-220661893 + TCGA-D7-6518-01 COSM4028412 c.1543G>A p.V515I Substitution - Missense 1:220650692-220650692 + TCGA-EE-A20B-06 COSM904167 c.1037G>A p.R346Q Substitution - Missense 1:220632228-220632228 + BD121T COSM5514824 c.772G>A p.D258N Substitution - Missense 1:220618529-220618529 + PD1364a COSM12996 c.2272delG p.E758fs*32 Deletion - Frameshift 1:220662050-220662050 + CHC1704T COSM4804179 c.2343C>T p.A781A Substitution - coding silent 1:220662121-220662121 + TCGA-G4-6299-01 COSM1338994 c.538_539insA p.H180fs*3 Insertion - Frameshift 1:220615981-220615982 + Pat_41_B COSM5845550 c.1915G>A p.G639S Substitution - Missense 1:220653279-220653279 + TCGA-BG-A0YV-01 COSM904181 c.2386T>G p.*796E Nonstop extension 1:220662164-220662164 + ESCC-139T COSM3934494 c.1490G>T p.G497V Substitution - Missense 1:220650639-220650639 + TCGA-C5-A1M6-01 COSM4826628 c.949G>C p.E317Q Substitution - Missense 1:220631074-220631074 + HCT-15 COSM1668495 c.1033G>A p.A345T Substitution - Missense 1:220632224-220632224 + LUAD-U6SJ7 COSM404789 c.308A>C p.K103T Substitution - Missense 1:220581117-220581117 + S01873 COSM5671962 c.1280G>T p.G427V Substitution - Missense 1:220635836-220635836 + TCGA-D1-A103-01 COSM904154 c.162G>A p.Q54Q Substitution - coding silent 1:220579464-220579464 + TCGA-B5-A0JZ-01 COSM904162 c.663C>A p.P221P Substitution - coding silent 1:220618420-220618420 + I2L-P7-Tumor-Organoid COSM5353709 c.73A>G p.T25A Substitution - Missense 1:220579375-220579375 + BCM683T COSM532865 c.1610G>C p.G537A Substitution - Missense 1:220652024-220652024 + TCGA-E1-5319-01 COSM3966280 c.612T>C p.S204S Substitution - coding silent 1:220618369-220618369 + RMS112_ COSM4987687 c.2102G>A p.R701Q Substitution - Missense 1:220661880-220661880 + TCGA-66-2785-01 COSM678434 c.2034-1G>A p.? Unknown 1:220661811-220661811 + TCGA-C5-A1BJ-01 COSM4830669 c.1376G>A p.R459Q Substitution - Missense 1:220635932-220635932 + 585267 COSM321591 c.321A>T p.E107D Substitution - Missense 1:220598342-220598342 + TCGA-DA-A1IC-06 COSM3483870 c.1075G>A p.D359N Substitution - Missense 1:220632266-220632266 + TCGA-FS-A1ZQ-06 COSM3483866 c.540C>T p.H180H Substitution - coding silent 1:220615983-220615983 + TCGA-D1-A101-01 COSM904155 c.171T>A p.I57I Substitution - coding silent 1:220579473-220579473 + TCGA-FS-A1ZU-06 COSM3483862 c.426T>G p.G142G Substitution - coding silent 1:220604068-220604068 + WSU-HN6 COSM4602485 c.488T>C p.F163S Substitution - Missense 1:220604130-220604130 + TCGA-AX-A0J0-01 COSM904167 c.1037G>A p.R346Q Substitution - Missense 1:220632228-220632228 + TCGA-HU-A4G8-01 COSM4028410 c.1138T>A p.S380T Substitution - Missense 1:220635391-220635391 + Pat_45_B COSM5845549 c.1117C>T p.P373S Substitution - Missense 1:220632308-220632308 + PCSI_0083_Pa_P_526 COSM3785152 c.934A>G p.N312D Substitution - Missense 1:220631059-220631059 + HCT8 COSM1668495 c.1033G>A p.A345T Substitution - Missense 1:220632224-220632224 + TCGA-BT-A20T-01 COSM414621 c.1637C>T p.S546L Substitution - Missense 1:220652051-220652051 + B59-3 COSM1748166 c.1467A>T p.P489P Substitution - coding silent 1:220636023-220636023 + 24T COSM108240 c.230C>A p.A77E Substitution - Missense 1:220579532-220579532 + NCI-H23 COSM1668497 c.1489G>T p.G497C Substitution - Missense 1:220650638-220650638 + 50 COSM5014184 c.125G>T p.R42L Substitution - Missense 1:220579427-220579427 + RK308_C01 COSM1339009 c.2280C>T p.C760C Substitution - coding silent 1:220662058-220662058 + HCT15 COSM1668495 c.1033G>A p.A345T Substitution - Missense 1:220632224-220632224 + ICGC_0037 COSM218383 c.748T>G p.L250V Substitution - Missense 1:220618505-220618505 + TCGA-D9-A6EC-06 COSM3741017 c.695A>C p.K232T Substitution - Missense 1:220618452-220618452 + TCGA-HU-A4GP-01 COSM4028416 c.2238C>T p.D746D Substitution - coding silent 1:220662016-220662016 + HCC2998 COSM1668494 c.859C>T p.L287F Substitution - Missense 1:220618705-220618705 + TCGA-AG-A002-01 COSM261921 c.1984C>T p.R662C Substitution - Missense 1:220653348-220653348 + TCGA-A2-A0EY-01 COSM425360 c.2158G>C p.E720Q Substitution - Missense 1:220661936-220661936 + TCGA-B5-A11E-01 COSM904176 c.1867C>T p.R623C Substitution - Missense 1:220653231-220653231 + TCGA-GI-A2C8-01 COSM1473415 c.59C>G p.S20C Substitution - Missense 1:220579361-220579361 + pfg002T COSM1639730 c.2093G>A p.R698H Substitution - Missense 1:220661871-220661871 + TCGA-GN-A266-06 COSM3483872 c.1554G>A p.Q518Q Substitution - coding silent 1:220650703-220650703 + BD130T COSM5515936 c.358+5G>C p.? Unknown 1:220598384-220598384 + 12-P412 COSM4576921 c.1739C>T p.T580I Substitution - Missense 1:220653103-220653103 + TCGA-24-1557-01 COSM78057 c.1132G>A p.G378S Substitution - Missense 1:220635385-220635385 + LS411 COSM1959289 c.1139C>T p.S380L Substitution - Missense 1:220635392-220635392 + TCGA-22-4613-01 COSM678441 c.416C>T p.A139V Substitution - Missense 1:220599855-220599855 + ESCC_81 COSM5635836 c.1011C>T p.D337D Substitution - coding silent 1:220632202-220632202 + TCGA-EI-6917-01 COSM261921 c.1984C>T p.R662C Substitution - Missense 1:220653348-220653348 + TCGA-A3-3346-01 COSM463957 c.193A>G p.T65A Substitution - Missense 1:220579495-220579495 + pfg373T COSM4764632 c.2312G>A p.R771H Substitution - Missense 1:220662090-220662090 + EW8 COSM1959258 c.173G>A p.G58E Substitution - Missense 1:220579475-220579475 + TCGA-HU-A4GN-01 COSM4028415 c.1985G>A p.R662H Substitution - Missense 1:220653349-220653349 + DLD1 COSM1668495 c.1033G>A p.A345T Substitution - Missense 1:220632224-220632224 + CSCC-47-T COSM4463348 c.1287C>T p.S429S Substitution - coding silent 1:220635843-220635843 + 587376 COSM1214572 c.2096C>A p.S699Y Substitution - Missense 1:220661874-220661874 + TCGA-A8-A07L-01 COSM425358 c.1621G>A p.A541T Substitution - Missense 1:220652035-220652035 + LUAD-S01478 COSM399864 c.639_640GG>CT p.L213_D214>FY Complex - compound substitution 1:220618396-220618397 + TCGA-EI-6514-01 COSM3418780 c.1807C>T p.R603C Substitution - Missense 1:220653171-220653171 + STC263 COSM5053116 c.1858C>T p.R620W Substitution - Missense 1:220653222-220653222 + TCGA-CJ-5675-01 COSM463959 c.546T>A p.D182E Substitution - Missense 1:220615989-220615989 + MO_1096 COSM5548768 c.449C>T p.A150V Substitution - Missense 1:220604091-220604091 + CLL033 COSM1290121 c.1873G>A p.V625I Substitution - Missense 1:220653237-220653237 + PT48 COSM5930607 c.2047G>A p.E683K Substitution - Missense 1:220661825-220661825 + H1155 COSM1195363 c.1516G>A p.V506I Substitution - Missense 1:220650665-220650665 + TCGA-FW-A5DY-06 COSM3483865 c.534T>C p.I178I Substitution - coding silent 1:220615977-220615977 + PCSI_0142_Pa_P_526 COSM4808302 c.1010-10A>C p.? Unknown 1:220632191-220632191 + B59-Tumor COSM1748164 c.332T>C p.M111T Substitution - Missense 1:220598353-220598353 + TCGA-AX-A063-01 COSM904177 c.1868G>A p.R623H Substitution - Missense 1:220653232-220653232 + PD0884a COSM20801 c.1064A>C p.N355T Substitution - Missense 1:220632255-220632255 + TCGA-D8-A1XZ-01 COSM1473416 c.668C>T p.A223V Substitution - Missense 1:220618425-220618425 + HCC2998 COSM1668498 c.2219T>G p.L740R Substitution - Missense 1:220661997-220661997 + TCGA-D1-A17Q-01 COSM904166 c.925C>T p.R309* Substitution - Nonsense 1:220631050-220631050 + LUAD-LIP77 COSM342337 c.1105G>C p.G369R Substitution - Missense 1:220632296-220632296 + TCGA-AZ-4315-01 COSM1214572 c.2096C>A p.S699Y Substitution - Missense 1:220661874-220661874 + KM12 COSM1668493 c.454G>T p.G152* Substitution - Nonsense 1:220604096-220604096 + 185T COSM4383253 c.2212T>C p.F738L Substitution - Missense 1:220661990-220661990 + TCGA-EE-A2MF-06 COSM4893140 c.953A>C p.E318A Substitution - Missense 1:220631078-220631078 + HCC2998 COSM1668492 c.382A>G p.T128A Substitution - Missense 1:220599821-220599821 + TCGA-AP-A051-01 COSM904161 c.613A>G p.N205D Substitution - Missense 1:220618370-220618370 + CHC892T COSM4797173 c.1743C>T p.T581T Substitution - coding silent 1:220653107-220653107 + CHC1597T COSM4787803 c.1723G>T p.A575S Substitution - Missense 1:220652137-220652137 + TCGA-DG-A2KL-01 COSM4851468 c.1763C>T p.S588F Substitution - Missense 1:220653127-220653127 + HCC2998 COSM1668491 c.316C>T p.R106* Substitution - Nonsense 1:220598337-220598337 + pfg317T COSM4764631 c.2300T>C p.L767P Substitution - Missense 1:220662078-220662078 + TCGA-BG-A0YV-01 COSM904170 c.1172G>A p.R391Q Substitution - Missense 1:220635425-220635425 + 3N51-VS-3T51 COSM4983234 c.916A>C p.M306L Substitution - Missense 1:220631041-220631041 + ACINAR01 COSM1733886 c.733G>A p.V245I Substitution - Missense 1:220618490-220618490 + RK308_C01 COSM3741016 c.22C>T p.P8S Substitution - Missense 1:220528844-220528844 + TCGA-CA-6717-01 COSM1338995 c.1036C>T p.R346* Substitution - Nonsense 1:220632227-220632227 + TCGA-AX-A0J1-01 COSM904164 c.776G>A p.G259D Substitution - Missense 1:220618533-220618533 + TCGA-EE-A3JD-06 COSM4395298 c.633C>G p.N211K Substitution - Missense 1:220618390-220618390 + TCGA-ED-A4XI-01 COSM4913254 c.1854G>A p.Q618Q Substitution - coding silent 1:220653218-220653218 + TCGA-DD-A73D-01 COSM1959274 c.731G>T p.G244V Substitution - Missense 1:220618488-220618488 + TCGA-EB-A5UL-06 COSM3483873 c.1563A>T p.K521N Substitution - Missense 1:220650712-220650712 + HCC066T COSM5820997 c.1501A>T p.R501* Substitution - Nonsense 1:220650650-220650650 + ccRCC-5 COSM1662698 c.625G>T p.V209F Substitution - Missense 1:220618382-220618382 + TCGA-BG-A0M9-01 COSM904174 c.1460C>G p.T487S Substitution - Missense 1:220636016-220636016 + 61 COSM174190 c.1642C>T p.R548* Substitution - Nonsense 1:220652056-220652056 + TCGA-AP-A0LM-01 COSM904180 c.2290C>T p.R764* Substitution - Nonsense 1:220662068-220662068 + TCGA-F5-6814-01 COSM1668491 c.316C>T p.R106* Substitution - Nonsense 1:220598337-220598337 + PA090 COSM1162378 c.1473C>G p.N491K Substitution - Missense 1:220650622-220650622 + YUKAT COSM5379694 c.123C>G p.P41P Substitution - coding silent 1:220579425-220579425 + Pat_41_B COSM5845548 c.802C>T p.R268* Substitution - Nonsense 1:220618648-220618648 + PD1364a COSM12996 c.2272delG p.E758fs*32 Deletion - Frameshift 1:220662050-220662050 + TCGA-AA-A024-01 COSM287384 c.1802G>A p.R601Q Substitution - Missense 1:220653166-220653166 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.497806 1q41 606511

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.E318A c.953A>C 1 220804420 CM A G Missense p.I354V c.1060A>G 1 220805593 HNSC A G Missense p.S705G c.2113A>G 1 220835233 BRCA A G Missense p.S710G c.2128A>G 1 220835248 CM A G Missense p.S710G c.2128A>G 1 220835248 RCCC A G Missense p.T65A c.193A>G 1 220752837 RCCC A G Missense p.Y233C c.698A>G 1 220791797 STAD A G Synonymous p.R309R c.927A>G 1 220804394 CM A T Missense p.E107D c.321A>T 1 220771684 SCLC A T Missense p.M311L c.931A>T 1 220804398 HNSC A T Nonsense p.K696* c.2086A>T 1 220835206 NSCLC C A IntronicSNV . c.495+4436C>A 1 220781915 CLL C A Missense p.L288M c.862C>A 1 220792050 BLCA C A Synonymous p.P221P c.663C>A 1 220791762 UCEC C G IntronicSNV . c.910-4579C>G 1 220799798 CM C G Missense p.N211K c.633C>G 1 220791732 CM C G Missense p.P328R c.983C>G 1 220804450 CM C G Missense p.Q441E c.1321C>G 1 220809219 HNSC C G Missense p.S20C c.59C>G 1 220752703 BRCA C G Missense p.S380W c.1139C>G 1 220808734 LUAD C G Missense p.T487S c.1460C>G 1 220809358 UCEC C G Synonymous p.S403S c.1209C>G 1 220808804 OV C T IntronicSNV . c.1471-2383C>T 1 220821579 CLL C T Missense p.A139V c.416C>T 1 220773197 LUSC C T Missense p.A223V c.668C>T 1 220791767 BRCA C T Missense p.A223V c.668C>T 1 220791767 STAD C T Missense p.H315Y c.943C>T 1 220804410 LUAD C T Missense p.H744Y c.2230C>T 1 220835350 CM C T Missense p.P589L c.1766C>T 1 220826472 CM C T Missense p.P605S c.1813C>T 1 220826519 CM C T Missense p.S546L c.1637C>T 1 220825393 BLCA C T Missense p.T511I c.1532C>T 1 220824023 HNSC C T Missense p.T657I c.1970C>T 1 220826676 COREAD C T Nonsense p.Q356* c.1066C>T 1 220805599 CM C T Nonsense p.R346* c.1036C>T 1 220805569 LUAD C T Nonsense p.R548* c.1642C>T 1 220825398 STAD C T Synonymous p.L247L c.741C>T 1 220791840 LUAD C T Synonymous p.N39N c.117C>T 1 220752761 LUAD C T Synonymous p.P221P c.663C>T 1 220791762 CLL C T Synonymous p.V544V c.1632C>T 1 220825388 CM G A IntronicSNV . c.909+249G>A 1 220792346 CLL G A Missense p.D283N c.847G>A 1 220792035 CM G A Missense p.D329N c.985G>A 1 220804452 BRCA G A Missense p.D359N c.1075G>A 1 220805608 CM G A Missense p.E206K c.616G>A 1 220791715 LUSC G A Missense p.E317K c.949G>A 1 220804416 CM G A Missense p.G378S c.1132G>A 1 220808727 OV G A Missense p.G745E c.2234G>A 1 220835354 CM G A Missense p.M339I c.1017G>A 1 220805550 LUAD G A Missense p.R109Q c.326G>A 1 220771689 CM G A Missense p.R346Q c.1037G>A 1 220805570 CM G A Missense p.R391Q c.1172G>A 1 220808767 UCEC G A Missense p.R601Q c.1802G>A 1 220826508 CM G A Missense p.R601Q c.1802G>A 1 220826508 COREAD G A Missense p.R611Q c.1832G>A 1 220826538 CM G A Missense p.R623H c.1868G>A 1 220826574 UCEC G A Missense p.R698H c.2093G>A 1 220835213 STAD G A Missense p.V515I c.1543G>A 1 220824034 STAD G A Missense p.V625I c.1873G>A 1 220826579 CLL G A Synonymous p.K68K c.204G>A 1 220752848 LUAD G A Synonymous p.R509R c.1527G>A 1 220824018 BRCA G C CdsStopSNV . c.2385G>C 1 220835505 PAAD G C Missense p.D571H c.1711G>C 1 220825467 CM G C Missense p.E720Q c.2158G>C 1 220835278 BRCA G C Missense p.G537A c.1610G>C 1 220825366 LUAD G C Missense p.R623P c.1868G>C 1 220826574 HNSC G C SpliceDonorSNV . c.1470+1G>C 1 220809369 LUSC G C Synonymous p.S380S c.1140G>C 1 220808735 LUAD G - Frameshift p.G616Vfs*37 c.1847delG 1 220826552 NSCLC G T Missense p.A587S c.1759G>T 1 220826465 COREAD G T Missense p.A591S c.1771G>T 1 220826477 CM G T Missense p.A727S c.2179G>T 1 220835299 RCCC G T Missense p.L76F c.228G>T 1 220752872 LUAD G T Missense p.R548L c.1643G>T 1 220825399 HNSC G T Missense p.R577L c.1730G>T 1 220825486 BRCA G T Missense p.V544F c.1630G>T 1 220825386 LUAD G T Missense p.V770F c.2308G>T 1 220835428 SCLC G T Nonsense p.E237* c.709G>T 1 220791808 LUAD G T Nonsense p.E452* c.1354G>T 1 220809252 MM T A IntronicSNV . c.1123-208T>A 1 220808510 CLL T A Missense p.I119K c.356T>A 1 220771719 LUAD T C Missense p.V293A c.878T>C 1 220792066 LUSC T C Missense p.W755R c.2263T>C 1 220835383 STAD T C Synonymous p.S204S c.612T>C 1 220791711 LGG T - Frameshift p.I276Ffs*13 c.825delT 1 220792013 CM T G Missense p.L250V c.748T>G 1 220791847 PAAD T G Missense p.M154R c.461T>G 1 220777445 LUSC T G Synonymous p.G142G c.426T>G 1 220777410 CM