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 18 30350407 30350407 + Missense_Mutation SNP C C T TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chr18:30350407C>T c.148G>A c.(148-150)Gtg>Atg p.V50M BLCA 18 30260446 30260446 + Missense_Mutation SNP C C T TCGA-K4-AAQO-01A-11D-A38G-08 TCGA-K4-AAQO-10A-01D-A38J-08 g.chr18:30260446C>T c.1355G>A c.(1354-1356)cGc>cAc p.R452H BLCA 18 30275515 30275515 + Splice_Site SNP A A G TCGA-K4-A6FZ-01A-11D-A31L-08 TCGA-K4-A6FZ-10A-01D-A31J-08 g.chr18:30275515A>G c.1070T>C c.(1069-1071)aTt>aCt p.I357T BLCA 18 30349767 30349767 + Missense_Mutation SNP C C T TCGA-ZF-A9R9-01A-11D-A38G-08 TCGA-ZF-A9R9-10A-01D-A38J-08 g.chr18:30349767C>T c.788G>A c.(787-789)cGc>cAc p.R263H BLCA 18 30350069 30350069 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 g.chr18:30350069C>A c.486G>T c.(484-486)aaG>aaT p.K162N BLCA 18 30350105 30350105 + Silent SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 g.chr18:30350105G>A c.450C>T c.(448-450)tcC>tcT p.S150S BLCA 18 30350174 30350174 + Silent SNP C C T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 g.chr18:30350174C>T c.381G>A c.(379-381)ctG>ctA p.L127L BLCA 18 30350474 30350474 + Missense_Mutation SNP C C A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 g.chr18:30350474C>A c.81G>T c.(79-81)tgG>tgT p.W27C BRCA 18 30260203 30260203 + Missense_Mutation SNP G G T TCGA-A2-A3XZ-01A-42D-A23C-09 TCGA-A2-A3XZ-10A-01D-A23C-09 g.chr18:30260203G>T c.1517C>A c.(1516-1518)aCa>aAa p.T506K BRCA 18 30260213 30260213 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 g.chr18:30260213C>G c.1507G>C c.(1507-1509)Gat>Cat p.D503H BRCA 18 30260233 30260233 + Missense_Mutation SNP T T A TCGA-A7-A425-01A-11D-A243-09 TCGA-A7-A425-10A-01D-A243-09 g.chr18:30260233T>A c.1487A>T c.(1486-1488)gAt>gTt p.D496V BRCA 18 30267118 30267118 + Splice_Site SNP C C A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 g.chr18:30267118C>A c.1238G>T c.(1237-1239)aGa>aTa p.R413I BRCA 18 30267120 30267120 + Silent SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 g.chr18:30267120T>C c.1236A>G c.(1234-1236)gaA>gaG p.E412E BRCA 18 30267172 30267172 + Missense_Mutation SNP C C G TCGA-A8-A097-01A-11W-A050-09 TCGA-A8-A097-10A-01D-A047-09 g.chr18:30267172C>G c.1184G>C c.(1183-1185)aGc>aCc p.S395T BRCA 18 30321922 30321922 + Silent SNP G G A TCGA-A8-A09I-01A-22W-A050-09 TCGA-A8-A09I-10A-01W-A055-09 g.chr18:30321922G>A c.1038C>T c.(1036-1038)gaC>gaT p.D346D BRCA 18 30321985 30321985 + Silent SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 g.chr18:30321985T>C c.975A>G c.(973-975)ttA>ttG p.L325L CESC 18 30257279 30257279 + Missense_Mutation SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 g.chr18:30257279C>G c.1603G>C c.(1603-1605)Gat>Cat p.D535H CESC 18 30260513 30260513 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr18:30260513C>T c.1288G>A c.(1288-1290)Ggt>Agt p.G430S CESC 18 30350010 30350010 + Missense_Mutation SNP G G A TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 g.chr18:30350010G>A c.545C>T c.(544-546)tCg>tTg p.S182L CESC 18 30350039 30350039 + Silent SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 g.chr18:30350039G>A c.516C>T c.(514-516)ctC>ctT p.L172L CESC 18 30350522 30350522 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 g.chr18:30350522G>A c.33C>T c.(31-33)ttC>ttT p.F11F CHOL 18 30260289 30260289 + Splice_Site SNP C C T TCGA-4G-AAZO-01A-12D-A417-09 TCGA-4G-AAZO-11A-11D-A41A-09 g.chr18:30260289C>T c.1431G>A c.(1429-1431)ggG>ggA p.G477G COAD 18 30257204 30257204 + Nonsense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr18:30257204G>A c.1678C>T c.(1678-1680)Cga>Tga p.R560* COAD 18 30257212 30257212 + Missense_Mutation SNP A A G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr18:30257212A>G c.1670T>C c.(1669-1671)tTg>tCg p.L557S COAD 18 30260177 30260177 + Missense_Mutation SNP C C T TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr18:30260177C>T c.1543G>A c.(1543-1545)Gta>Ata p.V515I COAD 18 30260213 30260213 + Missense_Mutation SNP C C G TCGA-D5-6924-01A-11D-1924-10 TCGA-D5-6924-10A-01D-1924-10 g.chr18:30260213C>G c.1507G>C c.(1507-1509)Gat>Cat p.D503H COAD 18 30260415 30260415 + Silent SNP C C T TCGA-AA-3660-01A-01D-1719-10 TCGA-AA-3660-11A-01D-1719-10 g.chr18:30260415C>T c.1386G>A c.(1384-1386)gcG>gcA p.A462A COAD 18 30260446 30260446 + Missense_Mutation SNP C C T TCGA-G4-6321-01A-11D-1719-10 TCGA-G4-6321-10A-01D-1720-10 g.chr18:30260446C>T c.1355G>A c.(1354-1356)cGc>cAc p.R452H COAD 18 30260447 30260447 + Missense_Mutation SNP G G A TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr18:30260447G>A c.1354C>T c.(1354-1356)Cgc>Tgc p.R452C COAD 18 30260462 30260462 + Nonsense_Mutation SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr18:30260462C>A c.1339G>T c.(1339-1341)Gaa>Taa p.E447* COAD 18 30260481 30260481 + Silent SNP G G A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr18:30260481G>A c.1320C>T c.(1318-1320)agC>agT p.S440S COAD 18 30275441 30275441 + Missense_Mutation SNP G G T TCGA-D5-6929-01A-31D-1924-10 TCGA-D5-6929-10A-01D-1924-10 g.chr18:30275441G>T c.1144C>A c.(1144-1146)Cag>Aag p.Q382K COAD 18 30275486 30275486 + Missense_Mutation SNP C C T TCGA-A6-5660-01A-01D-1650-10 TCGA-A6-5660-10A-01D-1650-10 g.chr18:30275486C>T c.1099G>A c.(1099-1101)Gtt>Att p.V367I COAD 18 30321953 30321953 + Missense_Mutation SNP C C T TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr18:30321953C>T c.1007G>A c.(1006-1008)cGg>cAg p.R336Q COAD 18 30321955 30321955 + Silent SNP G G A TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr18:30321955G>A c.1005C>T c.(1003-1005)gaC>gaT p.D335D COAD 18 30349862 30349862 + Frame_Shift_Del DEL G G - TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr18:30349862delG c.693delC c.(691-693)cccfs p.P231fs COAD 18 30349921 30349921 + Missense_Mutation SNP C C T TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr18:30349921C>T c.634G>A c.(634-636)Gat>Aat p.D212N COAD 18 30349973 30349973 + Silent SNP C C T TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr18:30349973C>T c.582G>A c.(580-582)gcG>gcA p.A194A COAD 18 30350036 30350036 + Silent SNP G G A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr18:30350036G>A c.519C>T c.(517-519)tgC>tgT p.C173C COADREAD 18 30257204 30257204 + Nonsense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr18:30257204G>A c.1678C>T c.(1678-1680)Cga>Tga p.R560* COADREAD 18 30257212 30257212 + Missense_Mutation SNP A A G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr18:30257212A>G c.1670T>C c.(1669-1671)tTg>tCg p.L557S COADREAD 18 30260177 30260177 + Missense_Mutation SNP C C T TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr18:30260177C>T c.1543G>A c.(1543-1545)Gta>Ata p.V515I COADREAD 18 30260213 30260213 + Missense_Mutation SNP C C G TCGA-D5-6924-01A-11D-1924-10 TCGA-D5-6924-10A-01D-1924-10 g.chr18:30260213C>G c.1507G>C c.(1507-1509)Gat>Cat p.D503H COADREAD 18 30260415 30260415 + Silent SNP C C T TCGA-AA-3660-01A-01D-1719-10 TCGA-AA-3660-11A-01D-1719-10 g.chr18:30260415C>T c.1386G>A c.(1384-1386)gcG>gcA p.A462A COADREAD 18 30260446 30260446 + Missense_Mutation SNP C C T TCGA-G4-6321-01A-11D-1719-10 TCGA-G4-6321-10A-01D-1720-10 g.chr18:30260446C>T c.1355G>A c.(1354-1356)cGc>cAc p.R452H COADREAD 18 30260447 30260447 + Missense_Mutation SNP G G A TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr18:30260447G>A c.1354C>T c.(1354-1356)Cgc>Tgc p.R452C COADREAD 18 30260462 30260462 + Nonsense_Mutation SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr18:30260462C>A c.1339G>T c.(1339-1341)Gaa>Taa p.E447* COADREAD 18 30260481 30260481 + Silent SNP G G A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr18:30260481G>A c.1320C>T c.(1318-1320)agC>agT p.S440S COADREAD 18 30275441 30275441 + Missense_Mutation SNP G G T TCGA-D5-6929-01A-31D-1924-10 TCGA-D5-6929-10A-01D-1924-10 g.chr18:30275441G>T c.1144C>A c.(1144-1146)Cag>Aag p.Q382K COADREAD 18 30275486 30275486 + Missense_Mutation SNP C C T TCGA-A6-5660-01A-01D-1650-10 TCGA-A6-5660-10A-01D-1650-10 g.chr18:30275486C>T c.1099G>A c.(1099-1101)Gtt>Att p.V367I COADREAD 18 30321953 30321953 + Missense_Mutation SNP C C T TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr18:30321953C>T c.1007G>A c.(1006-1008)cGg>cAg p.R336Q COADREAD 18 30321955 30321955 + Silent SNP G G A TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr18:30321955G>A c.1005C>T c.(1003-1005)gaC>gaT p.D335D COADREAD 18 30349862 30349862 + Frame_Shift_Del DEL G G - TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr18:30349862delG c.693delC c.(691-693)cccfs p.P231fs COADREAD 18 30349921 30349921 + Missense_Mutation SNP C C T TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr18:30349921C>T c.634G>A c.(634-636)Gat>Aat p.D212N COADREAD 18 30349973 30349973 + Silent SNP C C T TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr18:30349973C>T c.582G>A c.(580-582)gcG>gcA p.A194A COADREAD 18 30350036 30350036 + Silent SNP G G A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr18:30350036G>A c.519C>T c.(517-519)tgC>tgT p.C173C DLBC 18 30257201 30257201 + Missense_Mutation SNP T T G TCGA-FF-8042-01A-11D-2210-10 TCGA-FF-8042-10A-01D-2210-10 g.chr18:30257201T>G c.1681A>C c.(1681-1683)Agt>Cgt p.S561R DLBC 18 30350108 30350108 + Silent SNP C C T TCGA-FA-A82F-01A-11D-A382-10 TCGA-FA-A82F-10A-01D-A385-10 g.chr18:30350108C>T c.447G>A c.(445-447)ctG>ctA p.L149L DLBC 18 30350266 30350266 + Nonsense_Mutation SNP G G A TCGA-FF-A7CQ-01A-11D-A382-10 TCGA-FF-A7CQ-10A-01D-A385-10 g.chr18:30350266G>A c.289C>T c.(289-291)Cag>Tag p.Q97* DLBC 18 30350456 30350456 + Missense_Mutation SNP G G C TCGA-FA-A7Q1-01A-11D-A382-10 TCGA-FA-A7Q1-10A-01D-A385-10 g.chr18:30350456G>C c.99C>G c.(97-99)tgC>tgG p.C33W ESCA 18 30260215 30260215 + Missense_Mutation SNP T T C TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 g.chr18:30260215T>C c.1505A>G c.(1504-1506)cAa>cGa p.Q502R GBMLGG 18 30254669 30254669 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr18:30254669G>T c.1838C>A c.(1837-1839)cCt>cAt p.P613H GBMLGG 18 30260222 30260222 + Nonsense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr18:30260222G>A c.1498C>T c.(1498-1500)Cga>Tga p.R500* GBMLGG 18 30260482 30260482 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr18:30260482C>A c.1319G>T c.(1318-1320)aGc>aTc p.S440I GBMLGG 18 30275430 30275430 + Silent SNP C C T TCGA-QH-A6X4-01A-51D-A32B-08 TCGA-QH-A6X4-10B-01D-A329-08 g.chr18:30275430C>T c.1155G>A c.(1153-1155)ccG>ccA p.P385P GBMLGG 18 30322013 30322013 + Splice_Site SNP C C A TCGA-FG-8191-01A-11D-2253-08 TCGA-FG-8191-10A-01D-2253-08 g.chr18:30322013C>A c.e3-1 GBMLGG 18 30349844 30349844 + Silent SNP C C T TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 g.chr18:30349844C>T c.711G>A c.(709-711)gcG>gcA p.A237A GBMLGG 18 30349853 30349853 + Silent SNP C C T TCGA-HT-7473-01A-11D-2024-08 TCGA-HT-7473-10A-01D-2024-08 g.chr18:30349853C>T c.702G>A c.(700-702)tcG>tcA p.S234S HNSC 18 30254696 30254696 + Missense_Mutation SNP C C T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 g.chr18:30254696C>T c.1811G>A c.(1810-1812)gGa>gAa p.G604E HNSC 18 30260292 30260292 + Splice_Site SNP T T C TCGA-CV-A45W-01A-11D-A25D-08 TCGA-CV-A45W-10A-01D-A25E-08 g.chr18:30260292T>C c.e7-2 HNSC 18 30260407 30260407 + Missense_Mutation SNP G G A TCGA-KU-A66T-01A-11D-A30E-08 TCGA-KU-A66T-10A-01D-A30H-08 g.chr18:30260407G>A c.1394C>T c.(1393-1395)gCg>gTg p.A465V HNSC 18 30260493 30260493 + Silent SNP G G A TCGA-UF-A7JF-01A-11D-A34J-08 TCGA-UF-A7JF-10A-01D-A34M-08 g.chr18:30260493G>A c.1308C>T c.(1306-1308)ggC>ggT p.G436G HNSC 18 30349804 30349804 + Nonsense_Mutation SNP C C A TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 g.chr18:30349804C>A c.751G>T c.(751-753)Gag>Tag p.E251* HNSC 18 30350122 30350122 + Missense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 g.chr18:30350122C>T c.433G>A c.(433-435)Gcc>Acc p.A145T HNSC 18 30350279 30350279 + Silent SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 g.chr18:30350279C>T c.276G>A c.(274-276)ccG>ccA p.P92P KIPAN 18 30350134 30350134 + Missense_Mutation SNP A A C TCGA-B3-8121-01A-21D-2396-08 TCGA-B3-8121-10A-01D-2396-08 g.chr18:30350134A>C c.421T>G c.(421-423)Tac>Gac p.Y141D KIRP 18 30350134 30350134 + Missense_Mutation SNP A A C TCGA-B3-8121-01A-21D-2396-08 TCGA-B3-8121-10A-01D-2396-08 g.chr18:30350134A>C c.421T>G c.(421-423)Tac>Gac p.Y141D LGG 18 30254669 30254669 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr18:30254669G>T c.1838C>A c.(1837-1839)cCt>cAt p.P613H LGG 18 30260222 30260222 + Nonsense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr18:30260222G>A c.1498C>T c.(1498-1500)Cga>Tga p.R500* LGG 18 30260482 30260482 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr18:30260482C>A c.1319G>T c.(1318-1320)aGc>aTc p.S440I LGG 18 30275430 30275430 + Silent SNP C C T TCGA-QH-A6X4-01A-51D-A32B-08 TCGA-QH-A6X4-10B-01D-A329-08 g.chr18:30275430C>T c.1155G>A c.(1153-1155)ccG>ccA p.P385P LGG 18 30322013 30322013 + Splice_Site SNP C C A TCGA-FG-8191-01A-11D-2253-08 TCGA-FG-8191-10A-01D-2253-08 g.chr18:30322013C>A c.e3-1 LGG 18 30349844 30349844 + Silent SNP C C T TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 g.chr18:30349844C>T c.711G>A c.(709-711)gcG>gcA p.A237A LGG 18 30349853 30349853 + Silent SNP C C T TCGA-HT-7473-01A-11D-2024-08 TCGA-HT-7473-10A-01D-2024-08 g.chr18:30349853C>T c.702G>A c.(700-702)tcG>tcA p.S234S LIHC 18 30257147 30257147 + Missense_Mutation SNP T T C TCGA-QA-A7B7-01A-11D-A32G-10 TCGA-QA-A7B7-10A-01D-A32G-10 g.chr18:30257147T>C c.1735A>G c.(1735-1737)Agc>Ggc p.S579G LIHC 18 30349862 30349862 + Frame_Shift_Del DEL G G - TCGA-DD-A1EG-01A-11D-A20W-10 TCGA-DD-A1EG-10A-01D-A20W-10 g.chr18:30349862delG c.693delC c.(691-693)cccfs p.P231fs LIHC 18 30350114 30350114 + Silent SNP C C T TCGA-DD-AACL-01A-11D-A40R-10 TCGA-DD-AACL-10A-01D-A40U-10 g.chr18:30350114C>T c.441G>A c.(439-441)gtG>gtA p.V147V LUAD 18 30254751 30254751 + Missense_Mutation SNP T T C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 g.chr18:30254751T>C c.1756A>G c.(1756-1758)Aag>Gag p.K586E LUAD 18 30257294 30257294 + Splice_Site SNP C C G TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 g.chr18:30257294C>G c.e8-1 LUAD 18 30260132 30260132 + Splice_Site SNP C C A TCGA-91-A4BC-01A-11D-A24D-08 TCGA-91-A4BC-10A-01D-A24F-08 g.chr18:30260132C>A c.1588G>T c.(1588-1590)Ggt>Tgt p.G530C LUAD 18 30260213 30260213 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 g.chr18:30260213C>G c.1507G>C c.(1507-1509)Gat>Cat p.D503H LUAD 18 30260371 30260371 + Splice_Site SNP C C A TCGA-05-5428-01A-01D-1625-08 TCGA-05-5428-10A-01D-1625-08 g.chr18:30260371C>A c.e6+1 LUAD 18 30260411 30260411 + Missense_Mutation SNP G G T TCGA-95-7043-01A-11D-1945-08 TCGA-95-7043-10A-01D-1946-08 g.chr18:30260411G>T c.1390C>A c.(1390-1392)Cat>Aat p.H464N LUAD 18 30260434 30260434 + Missense_Mutation SNP G G T TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 g.chr18:30260434G>T c.1367C>A c.(1366-1368)tCt>tAt p.S456Y LUAD 18 30267170 30267170 + Silent SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 g.chr18:30267170G>T c.1186C>A c.(1186-1188)Cga>Aga p.R396R LUAD 18 30267189 30267189 + Missense_Mutation SNP G G T TCGA-78-7542-01A-21D-2063-08 TCGA-78-7542-11A-01D-2063-08 g.chr18:30267189G>T c.1167C>A c.(1165-1167)caC>caA p.H389Q LUAD 18 30275470 30275470 + Missense_Mutation SNP T T G TCGA-73-4670-01A-01D-1265-08 TCGA-73-4670-11A-01D-1265-08 g.chr18:30275470T>G c.1115A>C c.(1114-1116)aAc>aCc p.N372T LUAD 18 30349625 30349625 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 g.chr18:30349625C>A c.930G>T c.(928-930)agG>agT p.R310S LUAD 18 30349722 30349722 + Missense_Mutation SNP A A T TCGA-50-5051-01A-21D-1855-08 TCGA-50-5051-10A-01D-1855-08 g.chr18:30349722A>T c.833T>A c.(832-834)gTc>gAc p.V278D LUAD 18 30349741 30349741 + Missense_Mutation SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 g.chr18:30349741G>T c.814C>A c.(814-816)Ccg>Acg p.P272T LUAD 18 30349897 30349897 + Nonsense_Mutation SNP C C A TCGA-53-A4EZ-01A-12D-A24P-08 TCGA-53-A4EZ-10A-01D-A24P-08 g.chr18:30349897C>A c.658G>T c.(658-660)Gag>Tag p.E220* LUAD 18 30350008 30350008 + Missense_Mutation SNP C C A TCGA-78-8662-01A-11D-2393-08 TCGA-78-8662-10A-01D-2393-08 g.chr18:30350008C>A c.547G>T c.(547-549)Gtg>Ttg p.V183L LUAD 18 30350257 30350257 + Missense_Mutation SNP G G T TCGA-05-4427-01A-21D-1855-08 TCGA-05-4427-10A-01D-1855-08 g.chr18:30350257G>T c.298C>A c.(298-300)Ccg>Acg p.P100T LUSC 18 30254622 30254622 + Nonstop_Mutation SNP A A C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 g.chr18:30254622A>C c.1885T>G c.(1885-1887)Taa>Gaa p.*629E LUSC 18 30260198 30260198 + Missense_Mutation SNP G G T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 g.chr18:30260198G>T c.1522C>A c.(1522-1524)Cgt>Agt p.R508S LUSC 18 30275436 30275436 + Nonsense_Mutation SNP C C T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr18:30275436C>T c.1149G>A c.(1147-1149)tgG>tgA p.W383* LUSC 18 30321943 30321943 + Missense_Mutation SNP G G T TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 g.chr18:30321943G>T c.1017C>A c.(1015-1017)agC>agA p.S339R LUSC 18 30321982 30321982 + Missense_Mutation SNP C C A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 g.chr18:30321982C>A c.978G>T c.(976-978)ttG>ttT p.L326F LUSC 18 30349716 30349716 + Nonsense_Mutation SNP G G T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 g.chr18:30349716G>T c.839C>A c.(838-840)tCa>tAa p.S280* LUSC 18 30350180 30350180 + Silent SNP C C A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 g.chr18:30350180C>A c.375G>T c.(373-375)ctG>ctT p.L125L LUSC 18 30350379 30350379 + Missense_Mutation SNP C C G TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 g.chr18:30350379C>G c.176G>C c.(175-177)cGa>cCa p.R59P OV 18 30260447 30260447 + Missense_Mutation SNP G G A TCGA-13-0916-01A-01W-0420-08 TCGA-13-0916-10A-01D-0399-08 g.chr18:30260447G>A c.1354C>T c.(1354-1356)Cgc>Tgc p.R452C PAAD 18 30321972 30321972 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr18:30321972G>T c.988C>A c.(988-990)Ctg>Atg p.L330M PAAD 18 30322007 30322007 + Missense_Mutation SNP C C T TCGA-IB-A7M4-01A-11D-A36O-08 TCGA-IB-A7M4-10A-01D-A367-08 g.chr18:30322007C>T c.953G>A c.(952-954)cGc>cAc p.R318H PAAD 18 30349623 30349623 + Missense_Mutation SNP T T A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 g.chr18:30349623T>A c.932A>T c.(931-933)cAg>cTg p.Q311L PAAD 18 30349761 30349761 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr18:30349761C>T c.794G>A c.(793-795)cGc>cAc p.R265H PAAD 18 30350152 30350152 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr18:30350152G>T c.403C>A c.(403-405)Ctg>Atg p.L135M PAAD 18 30350182 30350182 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr18:30350182G>A c.373C>T c.(373-375)Ctg>Ttg p.L125L PRAD 18 30350295 30350295 + Missense_Mutation SNP G G T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 g.chr18:30350295G>T c.260C>A c.(259-261)cCg>cAg p.P87Q SKCM 18 30254720 30254720 + Missense_Mutation SNP T T A TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chr18:30254720T>A c.1787A>T c.(1786-1788)aAa>aTa p.K596I SKCM 18 30257204 30257204 + Nonsense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 g.chr18:30257204G>A c.1678C>T c.(1678-1680)Cga>Tga p.R560* SKCM 18 30257204 30257204 + Nonsense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr18:30257204G>A c.1678C>T c.(1678-1680)Cga>Tga p.R560* SKCM 18 30260234 30260234 + Missense_Mutation SNP C C T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 g.chr18:30260234C>T c.1486G>A c.(1486-1488)Gat>Aat p.D496N SKCM 18 30260388 30260388 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr18:30260388C>T c.1413G>A c.(1411-1413)ggG>ggA p.G471G SKCM 18 30260436 30260436 + Silent SNP G G A TCGA-EE-A183-06A-11D-A196-08 TCGA-EE-A183-10A-01D-A198-08 g.chr18:30260436G>A c.1365C>T c.(1363-1365)tcC>tcT p.S455S SKCM 18 30260457 30260457 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr18:30260457C>T c.1344G>A c.(1342-1344)acG>acA p.T448T SKCM 18 30260501 30260501 + Missense_Mutation SNP C C T TCGA-FS-A1ZP-06A-11D-A197-08 TCGA-FS-A1ZP-10A-01D-A199-08 g.chr18:30260501C>T c.1300G>A c.(1300-1302)Gaa>Aaa p.E434K SKCM 18 30275462 30275462 + Missense_Mutation SNP A A G TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr18:30275462A>G c.1123T>C c.(1123-1125)Ttc>Ctc p.F375L SKCM 18 30321904 30321904 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr18:30321904C>T c.1056G>A c.(1054-1056)tgG>tgA p.W352* SKCM 18 30322008 30322008 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 g.chr18:30322008G>A c.952C>T c.(952-954)Cgc>Tgc p.R318C SKCM 18 30322008 30322008 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 g.chr18:30322008G>A c.952C>T c.(952-954)Cgc>Tgc p.R318C SKCM 18 30349751 30349751 + Silent SNP G G A TCGA-EE-A3AF-06A-11D-A196-08 TCGA-EE-A3AF-10A-01D-A198-08 g.chr18:30349751G>A c.804C>T c.(802-804)ctC>ctT p.L268L SKCM 18 30349830 30349830 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 g.chr18:30349830G>A c.725C>T c.(724-726)tCc>tTc p.S242F SKCM 18 30350066 30350066 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr18:30350066G>A c.489C>T c.(487-489)atC>atT p.I163I SKCM 18 30350077 30350077 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr18:30350077C>T c.478G>A c.(478-480)Gtc>Atc p.V160I SKCM 18 30350137 30350161 + Frame_Shift_Del DEL CGAGCACCAGGCGCAGCCCGATGGA CGAGCACCAGGCGCAGCCCGATGGA - TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr18:30350137_30350161delCGAGCACCAGGCGCAGCCCGATGGA c.394_418delTCCATCGGGCTGCGCCTGGTGCTCG c.(394-420)tccatcgggctgcgcctggtgctcgagfs p.SIGLRLVLE132fs SKCM 18 30350423 30350423 + Silent SNP G G A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr18:30350423G>A c.132C>T c.(130-132)ttC>ttT p.F44F SKCM 18 30350440 30350440 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr18:30350440C>T c.115G>A c.(115-117)Gcc>Acc p.A39T SKCM 18 30350522 30350522 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr18:30350522G>A c.33C>T c.(31-33)ttC>ttT p.F11F

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 18 30350069 30350069 single base substitution C A missense_variant K162N 486G>T BLCA-US 18 30350069 30350069 single base substitution C A missense_variant K189N 567G>T BLCA-US 18 30350105 30350105 single base substitution G A synonymous_variant S150S 450C>T BLCA-US 18 30350105 30350105 single base substitution G A synonymous_variant S177S 531C>T BLCA-US 18 30350174 30350174 single base substitution C T synonymous_variant L127L 381G>A BLCA-US 18 30350174 30350174 single base substitution C T synonymous_variant L154L 462G>A BLCA-US 18 30350474 30350474 single base substitution C A missense_variant W27C 81G>T BLCA-US 18 30350474 30350474 single base substitution C A missense_variant W54C 162G>T BOCA-FR 18 30286661 30286661 single base substitution T A intron_variant BOCA-FR 18 30333840 30333840 single base substitution C A intron_variant BRCA-EU 18 30249097 30249097 single base substitution C T downstream_gene_variant BRCA-EU 18 30249223 30249223 single base substitution C A downstream_gene_variant BRCA-EU 18 30249363 30249363 single base substitution T C downstream_gene_variant BRCA-EU 18 30249908 30249908 single base substitution G A downstream_gene_variant BRCA-EU 18 30251869 30251869 single base substitution C G downstream_gene_variant BRCA-EU 18 30253027 30253027 single base substitution C T 3_prime_UTR_variant BRCA-EU 18 30253648 30253648 single base substitution G A 3_prime_UTR_variant BRCA-EU 18 30253670 30253670 single base substitution T A 3_prime_UTR_variant BRCA-EU 18 30253723 30253723 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU 18 30255559 30255559 single base substitution T C intron_variant BRCA-EU 18 30256332 30256332 single base substitution A G intron_variant BRCA-EU 18 30256507 30256507 single base substitution T C intron_variant BRCA-EU 18 30261444 30261444 single base substitution A C intron_variant BRCA-EU 18 30262083 30262083 single base substitution C G intron_variant BRCA-EU 18 30263143 30263143 single base substitution C G intron_variant BRCA-EU 18 30265979 30265979 insertion of <=200bp - C intron_variant BRCA-EU 18 30266263 30266263 single base substitution T G intron_variant BRCA-EU 18 30266402 30266402 single base substitution A G intron_variant BRCA-EU 18 30267201 30267201 single base substitution A G splice_region_variant BRCA-EU 18 30268754 30268754 single base substitution C T intron_variant BRCA-EU 18 30269854 30269854 single base substitution A T intron_variant BRCA-EU 18 30269873 30269873 single base substitution T G intron_variant BRCA-EU 18 30269896 30269896 single base substitution G A intron_variant BRCA-EU 18 30271532 30271532 single base substitution C G intron_variant BRCA-EU 18 30272433 30272433 single base substitution G T intron_variant BRCA-EU 18 30272869 30272869 single base substitution C A intron_variant BRCA-EU 18 30273705 30273705 single base substitution T G intron_variant BRCA-EU 18 30274135 30274135 single base substitution T C intron_variant BRCA-EU 18 30274219 30274219 single base substitution A T intron_variant BRCA-EU 18 30277254 30277254 single base substitution A G intron_variant BRCA-EU 18 30279492 30279492 single base substitution C T intron_variant BRCA-EU 18 30280028 30280028 single base substitution T C intron_variant BRCA-EU 18 30280200 30280200 single base substitution A T intron_variant BRCA-EU 18 30281828 30281828 single base substitution A C intron_variant BRCA-EU 18 30282870 30282870 deletion of <=200bp A - intron_variant BRCA-EU 18 30283145 30283145 single base substitution A C intron_variant BRCA-EU 18 30283979 30283979 insertion of <=200bp - T intron_variant BRCA-EU 18 30284137 30284137 single base substitution T C intron_variant BRCA-EU 18 30284247 30284247 single base substitution G A intron_variant BRCA-EU 18 30286239 30286239 single base substitution C T intron_variant BRCA-EU 18 30286687 30286687 deletion of <=200bp T - intron_variant BRCA-EU 18 30288763 30288763 single base substitution C A intron_variant BRCA-EU 18 30289018 30289018 single base substitution G C intron_variant BRCA-EU 18 30289071 30289071 single base substitution C G intron_variant BRCA-EU 18 30290895 30290895 single base substitution C G intron_variant BRCA-EU 18 30290917 30290917 single base substitution C T intron_variant BRCA-EU 18 30291145 30291145 single base substitution C T intron_variant BRCA-EU 18 30291278 30291278 single base substitution A T intron_variant BRCA-EU 18 30291824 30291824 single base substitution T A intron_variant BRCA-EU 18 30292517 30292517 single base substitution C G intron_variant BRCA-EU 18 30295114 30295114 single base substitution C T intron_variant BRCA-EU 18 30296534 30296534 single base substitution C T intron_variant BRCA-EU 18 30296545 30296545 deletion of <=200bp T - intron_variant BRCA-EU 18 30297944 30297944 single base substitution T G intron_variant BRCA-EU 18 30298941 30298941 single base substitution C T intron_variant BRCA-EU 18 30299136 30299136 single base substitution C T intron_variant BRCA-EU 18 30299486 30299486 single base substitution C G intron_variant BRCA-EU 18 30299688 30299688 single base substitution G A intron_variant BRCA-EU 18 30300857 30300857 single base substitution C A intron_variant BRCA-EU 18 30300868 30300868 single base substitution A T intron_variant BRCA-EU 18 30302925 30302925 single base substitution C A intron_variant BRCA-EU 18 30304152 30304152 single base substitution C T intron_variant BRCA-EU 18 30305632 30305632 single base substitution G A intron_variant BRCA-EU 18 30305651 30305651 single base substitution C T intron_variant BRCA-EU 18 30307546 30307546 single base substitution C T intron_variant BRCA-EU 18 30307597 30307597 deletion of <=200bp A - intron_variant BRCA-EU 18 30307860 30307860 single base substitution C G intron_variant BRCA-EU 18 30308824 30308824 single base substitution C G downstream_gene_variant BRCA-EU 18 30308824 30308824 single base substitution C G intron_variant BRCA-EU 18 30309728 30309728 single base substitution A C downstream_gene_variant BRCA-EU 18 30309728 30309728 single base substitution A C intron_variant BRCA-EU 18 30311956 30311956 single base substitution G T downstream_gene_variant BRCA-EU 18 30311956 30311956 single base substitution G T intron_variant BRCA-EU 18 30314818 30314818 single base substitution C T intron_variant BRCA-EU 18 30315291 30315291 single base substitution T G intron_variant BRCA-EU 18 30316086 30316086 single base substitution C T intron_variant BRCA-EU 18 30318280 30318280 single base substitution A G intron_variant BRCA-EU 18 30318443 30318443 single base substitution C G intron_variant BRCA-EU 18 30319555 30319555 single base substitution A T intron_variant BRCA-EU 18 30322056 30322057 deletion of <=200bp AG - intron_variant BRCA-EU 18 30322338 30322338 single base substitution G A intron_variant BRCA-EU 18 30322491 30322491 single base substitution C T intron_variant BRCA-EU 18 30325873 30325873 single base substitution C A intron_variant BRCA-EU 18 30327060 30327060 single base substitution G A intron_variant BRCA-EU 18 30327600 30327600 single base substitution C G intron_variant BRCA-EU 18 30328081 30328081 single base substitution G T intron_variant BRCA-EU 18 30328356 30328356 single base substitution G T intron_variant BRCA-EU 18 30328504 30328504 single base substitution T C intron_variant BRCA-EU 18 30330303 30330303 single base substitution T C intron_variant BRCA-EU 18 30331789 30331789 single base substitution C T intron_variant BRCA-EU 18 30332435 30332435 single base substitution C T intron_variant BRCA-EU 18 30333793 30333793 single base substitution C G intron_variant BRCA-EU 18 30335421 30335421 single base substitution C T intron_variant BRCA-EU 18 30335859 30335859 single base substitution T C intron_variant BRCA-EU 18 30337294 30337294 single base substitution G C intron_variant BRCA-EU 18 30337476 30337476 single base substitution G T intron_variant BRCA-EU 18 30340867 30340867 single base substitution T G intron_variant BRCA-EU 18 30342197 30342197 deletion of <=200bp T - intron_variant BRCA-EU 18 30344848 30344848 single base substitution T C intron_variant BRCA-EU 18 30345177 30345177 single base substitution C T downstream_gene_variant BRCA-EU 18 30345177 30345177 single base substitution C T intron_variant BRCA-EU 18 30347747 30347747 single base substitution C A downstream_gene_variant BRCA-EU 18 30347747 30347747 single base substitution C A intron_variant BRCA-EU 18 30348266 30348266 single base substitution C T downstream_gene_variant BRCA-EU 18 30348266 30348266 single base substitution C T intron_variant BRCA-EU 18 30348308 30348308 single base substitution C T downstream_gene_variant BRCA-EU 18 30348308 30348308 single base substitution C T intron_variant BRCA-EU 18 30349145 30349145 single base substitution C T downstream_gene_variant BRCA-EU 18 30349145 30349145 single base substitution C T intron_variant BRCA-EU 18 30350069 30350069 single base substitution C G missense_variant K162N 486G>C BRCA-EU 18 30350069 30350069 single base substitution C G missense_variant K189N 567G>C BRCA-EU 18 30351290 30351290 single base substitution G T intron_variant BRCA-EU 18 30352749 30352749 single base substitution C G 5_prime_UTR_variant BRCA-EU 18 30352749 30352749 single base substitution C G upstream_gene_variant BRCA-EU 18 30353372 30353372 single base substitution G A upstream_gene_variant BRCA-EU 18 30353812 30353812 single base substitution C A upstream_gene_variant BRCA-EU 18 30354982 30354982 single base substitution C G upstream_gene_variant BRCA-EU 18 30355861 30355861 insertion of <=200bp - A upstream_gene_variant BRCA-EU 18 30357924 30357924 single base substitution A C upstream_gene_variant BRCA-FR 18 30256332 30256332 single base substitution A G intron_variant BRCA-FR 18 30263143 30263143 single base substitution C G intron_variant BRCA-FR 18 30268040 30268040 single base substitution A T intron_variant BRCA-FR 18 30269896 30269896 single base substitution G A intron_variant BRCA-FR 18 30273705 30273705 single base substitution T G intron_variant BRCA-FR 18 30277093 30277093 single base substitution C T intron_variant BRCA-FR 18 30298941 30298941 single base substitution C T intron_variant BRCA-FR 18 30299136 30299136 single base substitution C T intron_variant BRCA-FR 18 30302925 30302925 single base substitution C A intron_variant BRCA-FR 18 30308824 30308824 single base substitution C G downstream_gene_variant BRCA-FR 18 30308824 30308824 single base substitution C G intron_variant BRCA-FR 18 30330303 30330303 single base substitution T C intron_variant BRCA-FR 18 30331703 30331703 single base substitution A C intron_variant BRCA-FR 18 30335859 30335859 single base substitution T C intron_variant BRCA-FR 18 30337294 30337294 single base substitution G C intron_variant BRCA-FR 18 30344577 30344577 single base substitution T C intron_variant BRCA-FR 18 30345177 30345177 single base substitution C T downstream_gene_variant BRCA-FR 18 30345177 30345177 single base substitution C T intron_variant BRCA-FR 18 30350516 30350516 single base substitution G T synonymous_variant P13P 39C>A BRCA-FR 18 30350516 30350516 single base substitution G T synonymous_variant P40P 120C>A BRCA-UK 18 30266292 30266292 single base substitution C G intron_variant BRCA-UK 18 30295173 30295173 single base substitution G C intron_variant BRCA-UK 18 30305632 30305632 single base substitution G A intron_variant BRCA-UK 18 30316086 30316086 single base substitution C T intron_variant BRCA-UK 18 30322007 30322007 single base substitution C T missense_variant R318H 953G>A BRCA-UK 18 30354982 30354982 single base substitution C G upstream_gene_variant BRCA-US 18 30260203 30260203 single base substitution G T missense_variant T506K 1517C>A BRCA-US 18 30260213 30260213 single base substitution C G missense_variant D503H 1507G>C BRCA-US 18 30260233 30260233 single base substitution T A missense_variant D496V 1487A>T BRCA-US 18 30267118 30267118 single base substitution C A missense_variant R413I 1238G>T BRCA-US 18 30267120 30267120 single base substitution T C splice_region_variant BRCA-US 18 30267172 30267172 single base substitution C G missense_variant S395T 1184G>C BRCA-US 18 30314187 30314187 single base substitution G A intron_variant BRCA-US 18 30314187 30314187 single base substitution G A missense_variant S364L 1091C>T BRCA-US 18 30321922 30321922 single base substitution G A synonymous_variant D346D 1038C>T BRCA-US 18 30321985 30321985 single base substitution T C synonymous_variant L325L 975A>G BTCA-JP 18 30349862 30349862 deletion of <=200bp G - downstream_gene_variant BTCA-JP 18 30349862 30349862 deletion of <=200bp G - frameshift_variant P231 BTCA-JP 18 30350197 30350197 deletion of <=200bp G - frameshift_variant R120 BTCA-JP 18 30350197 30350197 deletion of <=200bp G - frameshift_variant R147 CESC-US 18 30257279 30257279 single base substitution C G missense_variant D535H 1603G>C CESC-US 18 30260513 30260513 single base substitution C T missense_variant G430S 1288G>A CESC-US 18 30350010 30350010 single base substitution G A missense_variant S182L 545C>T CESC-US 18 30350010 30350010 single base substitution G A missense_variant S209L 626C>T CESC-US 18 30350039 30350039 single base substitution G A synonymous_variant L172L 516C>T CESC-US 18 30350039 30350039 single base substitution G A synonymous_variant L199L 597C>T CESC-US 18 30350522 30350522 single base substitution G A synonymous_variant F11F 33C>T CESC-US 18 30350522 30350522 single base substitution G A synonymous_variant F38F 114C>T CLLE-ES 18 30255247 30255247 single base substitution A C intron_variant CLLE-ES 18 30268011 30268011 single base substitution A G intron_variant CLLE-ES 18 30286897 30286897 single base substitution A C intron_variant CLLE-ES 18 30287587 30287587 single base substitution C T intron_variant CLLE-ES 18 30290300 30290300 single base substitution A T intron_variant CLLE-ES 18 30298105 30298105 single base substitution A G intron_variant CLLE-ES 18 30298925 30298925 single base substitution T C intron_variant CLLE-ES 18 30309961 30309961 single base substitution G A downstream_gene_variant CLLE-ES 18 30309961 30309961 single base substitution G A intron_variant CLLE-ES 18 30339356 30339356 single base substitution C G intron_variant COAD-US 18 30254632 30254632 single base substitution T C synonymous_variant P625P 1875A>G COAD-US 18 30257212 30257212 single base substitution A G missense_variant L557S 1670T>C COAD-US 18 30260177 30260177 single base substitution C T missense_variant V515I 1543G>A COAD-US 18 30260213 30260213 single base substitution C G missense_variant D503H 1507G>C COAD-US 18 30260415 30260415 single base substitution C T synonymous_variant A462A 1386G>A COAD-US 18 30260462 30260462 single base substitution C A stop_gained E447* 1339G>T COAD-US 18 30260481 30260481 single base substitution G A synonymous_variant S440S 1320C>T COAD-US 18 30275441 30275441 single base substitution G T missense_variant Q382K 1144C>A COAD-US 18 30275486 30275486 single base substitution C T missense_variant V367I 1099G>A COAD-US 18 30349691 30349691 single base substitution C T downstream_gene_variant COAD-US 18 30349691 30349691 single base substitution C T synonymous_variant P288P 864G>A COAD-US 18 30349862 30349862 deletion of <=200bp G - downstream_gene_variant COAD-US 18 30349862 30349862 deletion of <=200bp G - frameshift_variant P231 COAD-US 18 30349921 30349921 single base substitution C T downstream_gene_variant COAD-US 18 30349921 30349921 single base substitution C T missense_variant D212N 634G>A COAD-US 18 30349973 30349973 single base substitution C T synonymous_variant A194A 582G>A COAD-US 18 30349973 30349973 single base substitution C T synonymous_variant A221A 663G>A COAD-US 18 30350036 30350036 single base substitution G A synonymous_variant C173C 519C>T COAD-US 18 30350036 30350036 single base substitution G A synonymous_variant C200C 600C>T COCA-CN 18 30260392 30260392 single base substitution T C missense_variant N470S 1409A>G COCA-CN 18 30260447 30260447 single base substitution G A missense_variant R452C 1354C>T COCA-CN 18 30267234 30267234 single base substitution C A intron_variant COCA-CN 18 30314221 30314221 single base substitution G T intron_variant COCA-CN 18 30322076 30322076 single base substitution G A intron_variant COCA-CN 18 30349756 30349756 single base substitution C T downstream_gene_variant COCA-CN 18 30349756 30349756 single base substitution C T missense_variant A267T 799G>A COCA-CN 18 30353492 30353492 single base substitution T C upstream_gene_variant EOPC-DE 18 30333389 30333389 single base substitution C T intron_variant ESAD-UK 18 30249484 30249484 single base substitution C T downstream_gene_variant ESAD-UK 18 30249896 30249896 single base substitution G T downstream_gene_variant ESAD-UK 18 30250555 30250555 single base substitution T G downstream_gene_variant ESAD-UK 18 30251007 30251007 single base substitution C A downstream_gene_variant ESAD-UK 18 30252086 30252086 single base substitution C A downstream_gene_variant ESAD-UK 18 30254700 30254700 single base substitution C T missense_variant E603K 1807G>A ESAD-UK 18 30254717 30254717 single base substitution C T missense_variant G597E 1790G>A ESAD-UK 18 30254757 30254757 single base substitution C A missense_variant A584S 1750G>T ESAD-UK 18 30254761 30254761 single base substitution C T splice_acceptor_variant ESAD-UK 18 30254956 30254956 single base substitution A C intron_variant ESAD-UK 18 30254966 30254966 single base substitution G T intron_variant ESAD-UK 18 30255058 30255058 single base substitution C T intron_variant ESAD-UK 18 30255065 30255065 single base substitution C T intron_variant ESAD-UK 18 30256370 30256370 single base substitution G A intron_variant ESAD-UK 18 30258873 30258873 deletion of <=200bp C - intron_variant ESAD-UK 18 30260074 30260074 single base substitution G A intron_variant ESAD-UK 18 30261904 30261904 single base substitution T G intron_variant ESAD-UK 18 30262483 30262483 single base substitution G A intron_variant ESAD-UK 18 30263080 30263080 deletion of <=200bp T - intron_variant ESAD-UK 18 30267002 30267002 single base substitution C G intron_variant ESAD-UK 18 30268606 30268606 single base substitution A C intron_variant ESAD-UK 18 30270706 30270706 single base substitution A C intron_variant ESAD-UK 18 30270902 30270902 single base substitution A G intron_variant ESAD-UK 18 30271026 30271026 single base substitution C T intron_variant ESAD-UK 18 30273074 30273074 single base substitution G A intron_variant ESAD-UK 18 30273375 30273386 deletion of <=200bp ACAGAGAGAGAG - intron_variant ESAD-UK 18 30274613 30274613 single base substitution C A intron_variant ESAD-UK 18 30274998 30274998 single base substitution T G intron_variant ESAD-UK 18 30280172 30280172 deletion of <=200bp T - intron_variant ESAD-UK 18 30280175 30280175 single base substitution A T intron_variant ESAD-UK 18 30281125 30281125 single base substitution T G intron_variant ESAD-UK 18 30282239 30282242 deletion of <=200bp GAAA - intron_variant ESAD-UK 18 30282870 30282870 deletion of <=200bp A - intron_variant ESAD-UK 18 30284642 30284642 single base substitution G A intron_variant ESAD-UK 18 30285981 30285981 single base substitution G T intron_variant ESAD-UK 18 30287540 30287540 single base substitution T A intron_variant ESAD-UK 18 30288548 30288548 single base substitution C A intron_variant ESAD-UK 18 30291886 30291886 single base substitution C T intron_variant ESAD-UK 18 30295287 30295287 single base substitution T C intron_variant ESAD-UK 18 30295350 30295350 single base substitution C A intron_variant ESAD-UK 18 30297438 30297438 single base substitution T G intron_variant ESAD-UK 18 30298700 30298700 single base substitution C T intron_variant ESAD-UK 18 30298871 30298871 single base substitution T G intron_variant ESAD-UK 18 30299191 30299191 single base substitution G A intron_variant ESAD-UK 18 30300037 30300037 single base substitution C A intron_variant ESAD-UK 18 30301198 30301198 single base substitution A G intron_variant ESAD-UK 18 30303063 30303063 single base substitution A C intron_variant ESAD-UK 18 30303260 30303260 single base substitution G A intron_variant ESAD-UK 18 30303373 30303373 single base substitution T G intron_variant ESAD-UK 18 30303567 30303567 single base substitution G C intron_variant ESAD-UK 18 30304556 30304556 single base substitution T C intron_variant ESAD-UK 18 30304948 30304948 deletion of <=200bp A - intron_variant ESAD-UK 18 30307604 30307604 single base substitution G T intron_variant ESAD-UK 18 30312260 30312260 single base substitution G A downstream_gene_variant ESAD-UK 18 30312260 30312260 single base substitution G A intron_variant ESAD-UK 18 30314119 30314121 deletion of <=200bp TGT - disruptive_inframe_deletion NT386T ESAD-UK 18 30314119 30314121 deletion of <=200bp TGT - intron_variant ESAD-UK 18 30315335 30315335 single base substitution A C intron_variant ESAD-UK 18 30316792 30316792 single base substitution C A intron_variant ESAD-UK 18 30319391 30319391 single base substitution T G intron_variant ESAD-UK 18 30320754 30320754 single base substitution G A intron_variant ESAD-UK 18 30321549 30321549 single base substitution C T intron_variant ESAD-UK 18 30321959 30321959 single base substitution G A missense_variant P334L 1001C>T ESAD-UK 18 30322058 30322058 single base substitution A C intron_variant ESAD-UK 18 30322555 30322555 single base substitution T G intron_variant ESAD-UK 18 30322556 30322556 single base substitution T C intron_variant ESAD-UK 18 30323257 30323257 single base substitution G A intron_variant ESAD-UK 18 30324214 30324214 single base substitution G T intron_variant ESAD-UK 18 30324362 30324362 single base substitution C T intron_variant ESAD-UK 18 30325185 30325185 insertion of <=200bp - T intron_variant ESAD-UK 18 30325775 30325775 single base substitution C A intron_variant ESAD-UK 18 30326383 30326383 single base substitution C T intron_variant ESAD-UK 18 30327738 30327738 single base substitution T G intron_variant ESAD-UK 18 30327996 30327996 single base substitution A C intron_variant ESAD-UK 18 30328900 30328900 single base substitution C A intron_variant ESAD-UK 18 30328960 30328960 single base substitution T C intron_variant ESAD-UK 18 30329453 30329453 single base substitution A C intron_variant ESAD-UK 18 30331905 30331905 single base substitution C A intron_variant ESAD-UK 18 30332476 30332476 single base substitution C G intron_variant ESAD-UK 18 30333541 30333541 deletion of <=200bp A - intron_variant ESAD-UK 18 30335143 30335143 single base substitution A C intron_variant ESAD-UK 18 30335512 30335512 single base substitution T G intron_variant ESAD-UK 18 30335608 30335608 single base substitution T C intron_variant ESAD-UK 18 30335989 30335989 single base substitution T C intron_variant ESAD-UK 18 30337060 30337060 single base substitution T G intron_variant ESAD-UK 18 30337063 30337063 single base substitution A T intron_variant ESAD-UK 18 30337634 30337634 single base substitution A G intron_variant ESAD-UK 18 30338363 30338363 single base substitution G A intron_variant ESAD-UK 18 30340624 30340624 single base substitution A T intron_variant ESAD-UK 18 30341271 30341271 single base substitution C G intron_variant ESAD-UK 18 30344281 30344281 single base substitution A G intron_variant ESAD-UK 18 30344836 30344836 single base substitution C T intron_variant ESAD-UK 18 30344977 30344977 single base substitution T C downstream_gene_variant ESAD-UK 18 30344977 30344977 single base substitution T C intron_variant ESAD-UK 18 30345080 30345080 single base substitution T G downstream_gene_variant ESAD-UK 18 30345080 30345080 single base substitution T G intron_variant ESAD-UK 18 30345160 30345160 single base substitution G A downstream_gene_variant ESAD-UK 18 30345160 30345160 single base substitution G A intron_variant ESAD-UK 18 30346122 30346122 single base substitution G A downstream_gene_variant ESAD-UK 18 30346122 30346122 single base substitution G A intron_variant ESAD-UK 18 30347146 30347146 single base substitution G T downstream_gene_variant ESAD-UK 18 30347146 30347146 single base substitution G T intron_variant ESAD-UK 18 30350383 30350383 single base substitution A C missense_variant F58V 172T>G ESAD-UK 18 30350383 30350383 single base substitution A C missense_variant F85V 253T>G ESAD-UK 18 30351487 30351487 single base substitution G A intron_variant ESAD-UK 18 30352728 30352728 deletion of <=200bp A - 5_prime_UTR_variant ESAD-UK 18 30352728 30352728 deletion of <=200bp A - upstream_gene_variant ESAD-UK 18 30353241 30353241 single base substitution G A upstream_gene_variant ESAD-UK 18 30354261 30354261 insertion of <=200bp - A upstream_gene_variant ESAD-UK 18 30355179 30355179 insertion of <=200bp - T upstream_gene_variant ESAD-UK 18 30355211 30355211 single base substitution T G upstream_gene_variant ESAD-UK 18 30355861 30355861 single base substitution A T upstream_gene_variant ESAD-UK 18 30356560 30356560 single base substitution A C upstream_gene_variant ESAD-UK 18 30356691 30356691 single base substitution T C upstream_gene_variant ESAD-UK 18 30356807 30356807 single base substitution T A upstream_gene_variant ESAD-UK 18 30357049 30357049 single base substitution C T upstream_gene_variant ESCA-CN 18 30267183 30267183 single base substitution T C synonymous_variant T391T 1173A>G ESCA-CN 18 30275430 30275430 single base substitution C G synonymous_variant P385P 1155G>C ESCA-CN 18 30275526 30275526 single base substitution G A intron_variant ESCA-CN 18 30349584 30349584 single base substitution G C downstream_gene_variant ESCA-CN 18 30349584 30349584 single base substitution G C intron_variant ESCA-CN 18 30349588 30349588 single base substitution T C downstream_gene_variant ESCA-CN 18 30349588 30349588 single base substitution T C intron_variant ESCA-CN 18 30350612 30350612 single base substitution T G intron_variant ESCA-CN 18 30350627 30350627 single base substitution A G intron_variant KIRP-US 18 30350134 30350134 single base substitution A C missense_variant Y141D 421T>G KIRP-US 18 30350134 30350134 single base substitution A C missense_variant Y168D 502T>G LAML-KR 18 30333370 30333370 single base substitution G A intron_variant LGG-US 18 30322013 30322013 single base substitution C A splice_acceptor_variant LGG-US 18 30349844 30349844 single base substitution C T downstream_gene_variant LGG-US 18 30349844 30349844 single base substitution C T synonymous_variant A237A 711G>A LGG-US 18 30349853 30349853 single base substitution C T downstream_gene_variant LGG-US 18 30349853 30349853 single base substitution C T synonymous_variant S234S 702G>A LICA-CN 18 30257230 30257230 single base substitution A T missense_variant I551K 1652T>A LICA-CN 18 30350337 30350337 single base substitution C T missense_variant G100D 299G>A LICA-CN 18 30350337 30350337 single base substitution C T missense_variant G73D 218G>A LICA-FR 18 30260202 30260202 single base substitution T G synonymous_variant T506T 1518A>C LICA-FR 18 30269422 30269422 single base substitution T A intron_variant LICA-FR 18 30292931 30292931 single base substitution T A intron_variant LICA-FR 18 30294356 30294356 single base substitution C G intron_variant LICA-FR 18 30296225 30296225 single base substitution A G intron_variant LICA-FR 18 30316624 30316624 single base substitution C A intron_variant LICA-FR 18 30328478 30328478 single base substitution G A intron_variant LICA-FR 18 30341082 30341082 single base substitution C A intron_variant LICA-FR 18 30350056 30350056 single base substitution G A missense_variant P167S 499C>T LICA-FR 18 30350056 30350056 single base substitution G A missense_variant P194S 580C>T LICA-FR 18 30350489 30350489 single base substitution G T synonymous_variant G22G 66C>A LICA-FR 18 30350489 30350489 single base substitution G T synonymous_variant G49G 147C>A LICA-FR 18 30352064 30352064 single base substitution C T 5_prime_UTR_variant LICA-FR 18 30352064 30352064 single base substitution C T intron_variant LIHC-US 18 30257147 30257147 single base substitution T C missense_variant S579G 1735A>G LINC-JP 18 30254631 30254631 single base substitution A T missense_variant Y626N 1876T>A LINC-JP 18 30254637 30254637 single base substitution C A missense_variant V624L 1870G>T LINC-JP 18 30257180 30257180 single base substitution G A missense_variant L568F 1702C>T LINC-JP 18 30257373 30257373 single base substitution C A intron_variant LINC-JP 18 30257374 30257374 single base substitution A C intron_variant LINC-JP 18 30272838 30272838 single base substitution T A intron_variant LINC-JP 18 30275527 30275527 deletion of <=200bp A - intron_variant LINC-JP 18 30276795 30276795 single base substitution C T intron_variant LINC-JP 18 30279192 30279192 single base substitution A T intron_variant LINC-JP 18 30282643 30282643 single base substitution G T intron_variant LINC-JP 18 30286431 30286431 single base substitution C G intron_variant LINC-JP 18 30288281 30288281 single base substitution G A intron_variant LINC-JP 18 30305667 30305667 single base substitution A T intron_variant LINC-JP 18 30305954 30305954 single base substitution C G intron_variant LINC-JP 18 30313238 30313238 single base substitution A G downstream_gene_variant LINC-JP 18 30313238 30313238 single base substitution A G intron_variant LINC-JP 18 30313577 30313577 single base substitution T C downstream_gene_variant LINC-JP 18 30313577 30313577 single base substitution T C intron_variant LINC-JP 18 30314056 30314056 single base substitution A C 3_prime_UTR_variant LINC-JP 18 30314056 30314056 single base substitution A C intron_variant LINC-JP 18 30324296 30324296 single base substitution C A intron_variant LINC-JP 18 30326864 30326864 single base substitution G A intron_variant LINC-JP 18 30335335 30335335 single base substitution G T intron_variant LINC-JP 18 30336389 30336389 single base substitution T C intron_variant LINC-JP 18 30340549 30340549 single base substitution T C intron_variant LINC-JP 18 30349542 30349542 single base substitution T C downstream_gene_variant LINC-JP 18 30349542 30349542 single base substitution T C intron_variant LINC-JP 18 30349547 30349547 single base substitution T C downstream_gene_variant LINC-JP 18 30349547 30349547 single base substitution T C intron_variant LINC-JP 18 30350003 30350003 single base substitution C T synonymous_variant Q184Q 552G>A LINC-JP 18 30350003 30350003 single base substitution C T synonymous_variant Q211Q 633G>A LINC-JP 18 30351048 30351048 single base substitution G A intron_variant LINC-JP 18 30352078 30352078 single base substitution G C 5_prime_UTR_variant LINC-JP 18 30352078 30352078 single base substitution G C intron_variant LINC-JP 18 30352114 30352114 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant LINC-JP 18 30352114 30352114 single base substitution C A intron_variant LINC-JP 18 30352442 30352442 single base substitution C A intron_variant LINC-JP 18 30352442 30352442 single base substitution C A upstream_gene_variant LINC-JP 18 30353167 30353167 deletion of <=200bp C - upstream_gene_variant LINC-JP 18 30353489 30353489 single base substitution T A upstream_gene_variant LINC-JP 18 30356024 30356024 single base substitution T G upstream_gene_variant LIRI-JP 18 30247639 30247639 single base substitution A C downstream_gene_variant LIRI-JP 18 30250740 30250740 single base substitution T C downstream_gene_variant LIRI-JP 18 30251468 30251468 single base substitution A T downstream_gene_variant LIRI-JP 18 30251801 30251801 single base substitution C G downstream_gene_variant LIRI-JP 18 30255868 30255868 single base substitution C T intron_variant LIRI-JP 18 30256630 30256630 single base substitution G T intron_variant LIRI-JP 18 30257957 30257957 single base substitution A G intron_variant LIRI-JP 18 30258198 30258198 single base substitution A G intron_variant LIRI-JP 18 30258438 30258438 single base substitution T C intron_variant LIRI-JP 18 30259618 30259618 single base substitution A G intron_variant LIRI-JP 18 30260598 30260598 single base substitution G T intron_variant LIRI-JP 18 30262126 30262126 single base substitution A T intron_variant LIRI-JP 18 30262865 30262865 single base substitution G A intron_variant LIRI-JP 18 30263397 30263397 single base substitution T C intron_variant LIRI-JP 18 30264509 30264509 single base substitution T C intron_variant LIRI-JP 18 30264848 30264848 single base substitution A G intron_variant LIRI-JP 18 30265749 30265749 single base substitution T C intron_variant LIRI-JP 18 30267686 30267686 single base substitution A C intron_variant LIRI-JP 18 30268170 30268170 single base substitution A G intron_variant LIRI-JP 18 30269101 30269101 single base substitution T G intron_variant LIRI-JP 18 30269525 30269525 single base substitution G C intron_variant LIRI-JP 18 30270079 30270079 single base substitution G A intron_variant LIRI-JP 18 30270947 30270947 single base substitution C T intron_variant LIRI-JP 18 30271707 30271707 single base substitution A G intron_variant LIRI-JP 18 30271933 30271933 single base substitution T A intron_variant LIRI-JP 18 30272485 30272486 deletion of <=200bp CT - intron_variant LIRI-JP 18 30272737 30272737 single base substitution T A intron_variant LIRI-JP 18 30275006 30275006 single base substitution G T intron_variant LIRI-JP 18 30276142 30276142 single base substitution G T intron_variant LIRI-JP 18 30276291 30276291 single base substitution T C intron_variant LIRI-JP 18 30277440 30277440 single base substitution C T intron_variant LIRI-JP 18 30279868 30279868 single base substitution G T intron_variant LIRI-JP 18 30280068 30280068 single base substitution C G intron_variant LIRI-JP 18 30281336 30281336 single base substitution T C intron_variant LIRI-JP 18 30282081 30282081 single base substitution T C intron_variant LIRI-JP 18 30284591 30284591 single base substitution A T intron_variant LIRI-JP 18 30286513 30286513 single base substitution T C intron_variant LIRI-JP 18 30287740 30287740 single base substitution T C intron_variant LIRI-JP 18 30288639 30288639 single base substitution T C intron_variant LIRI-JP 18 30288811 30288811 single base substitution G T intron_variant LIRI-JP 18 30288908 30288908 single base substitution T G intron_variant LIRI-JP 18 30289535 30289535 single base substitution C T intron_variant LIRI-JP 18 30289857 30289857 single base substitution G T intron_variant LIRI-JP 18 30289859 30289859 single base substitution G T intron_variant LIRI-JP 18 30290508 30290508 single base substitution T C intron_variant LIRI-JP 18 30291038 30291038 single base substitution A T intron_variant LIRI-JP 18 30292376 30292376 single base substitution G A intron_variant LIRI-JP 18 30292924 30292924 single base substitution T A intron_variant LIRI-JP 18 30293324 30293324 single base substitution T C intron_variant LIRI-JP 18 30293477 30293477 single base substitution G T intron_variant LIRI-JP 18 30293620 30293620 single base substitution T C intron_variant LIRI-JP 18 30295284 30295284 single base substitution A T intron_variant LIRI-JP 18 30296989 30296989 single base substitution G T intron_variant LIRI-JP 18 30298076 30298076 single base substitution C G intron_variant LIRI-JP 18 30298077 30298077 single base substitution C T intron_variant LIRI-JP 18 30299648 30299648 single base substitution C A intron_variant LIRI-JP 18 30302168 30302168 single base substitution C A intron_variant LIRI-JP 18 30303047 30303047 single base substitution A G intron_variant LIRI-JP 18 30303847 30303847 single base substitution T C intron_variant LIRI-JP 18 30304617 30304617 single base substitution G C intron_variant LIRI-JP 18 30304638 30304638 single base substitution A C intron_variant LIRI-JP 18 30304956 30304956 single base substitution G A intron_variant LIRI-JP 18 30305258 30305258 single base substitution G T intron_variant LIRI-JP 18 30305456 30305456 single base substitution A G intron_variant LIRI-JP 18 30305466 30305466 single base substitution G T intron_variant LIRI-JP 18 30306331 30306331 single base substitution A G intron_variant LIRI-JP 18 30307958 30307958 single base substitution C A intron_variant LIRI-JP 18 30309497 30309497 single base substitution A T downstream_gene_variant LIRI-JP 18 30309497 30309497 single base substitution A T intron_variant LIRI-JP 18 30309791 30309791 single base substitution G T downstream_gene_variant LIRI-JP 18 30309791 30309791 single base substitution G T intron_variant LIRI-JP 18 30309954 30309954 single base substitution T A downstream_gene_variant LIRI-JP 18 30309954 30309954 single base substitution T A intron_variant LIRI-JP 18 30310884 30310884 single base substitution C T downstream_gene_variant LIRI-JP 18 30310884 30310884 single base substitution C T intron_variant LIRI-JP 18 30312563 30312563 single base substitution T A downstream_gene_variant LIRI-JP 18 30312563 30312563 single base substitution T A intron_variant LIRI-JP 18 30313874 30313874 single base substitution C G 3_prime_UTR_variant LIRI-JP 18 30313874 30313874 single base substitution C G intron_variant LIRI-JP 18 30315217 30315217 single base substitution G A intron_variant LIRI-JP 18 30315442 30315442 single base substitution T C intron_variant LIRI-JP 18 30315726 30315726 single base substitution C A intron_variant LIRI-JP 18 30316777 30316777 single base substitution A C intron_variant LIRI-JP 18 30317309 30317309 single base substitution C G intron_variant LIRI-JP 18 30318476 30318476 single base substitution T A intron_variant LIRI-JP 18 30320318 30320318 single base substitution T C intron_variant LIRI-JP 18 30320525 30320525 single base substitution T C intron_variant LIRI-JP 18 30320806 30320806 single base substitution A T intron_variant LIRI-JP 18 30321399 30321399 single base substitution G A intron_variant LIRI-JP 18 30322747 30322747 single base substitution C T intron_variant LIRI-JP 18 30324744 30324744 single base substitution T C intron_variant LIRI-JP 18 30324807 30324807 single base substitution C A intron_variant LIRI-JP 18 30325413 30325413 single base substitution C A intron_variant LIRI-JP 18 30327042 30327042 single base substitution A G intron_variant LIRI-JP 18 30327908 30327908 single base substitution T G intron_variant LIRI-JP 18 30327960 30327960 single base substitution T A intron_variant LIRI-JP 18 30328062 30328062 single base substitution T A intron_variant LIRI-JP 18 30329038 30329038 single base substitution T A intron_variant LIRI-JP 18 30329071 30329071 single base substitution T C intron_variant LIRI-JP 18 30329126 30329126 single base substitution T C intron_variant LIRI-JP 18 30330915 30330915 single base substitution T C intron_variant LIRI-JP 18 30332209 30332209 single base substitution T C intron_variant LIRI-JP 18 30333015 30333015 single base substitution T C intron_variant LIRI-JP 18 30335389 30335389 single base substitution G T intron_variant LIRI-JP 18 30335630 30335630 single base substitution C T intron_variant LIRI-JP 18 30336576 30336576 single base substitution A G intron_variant LIRI-JP 18 30337222 30337222 single base substitution T C intron_variant LIRI-JP 18 30337244 30337244 single base substitution A C intron_variant LIRI-JP 18 30338825 30338825 single base substitution T C intron_variant LIRI-JP 18 30339056 30339056 single base substitution G T intron_variant LIRI-JP 18 30339300 30339300 single base substitution A G intron_variant LIRI-JP 18 30339725 30339725 single base substitution A G intron_variant LIRI-JP 18 30340090 30340090 single base substitution A G intron_variant LIRI-JP 18 30341254 30341254 single base substitution T C intron_variant LIRI-JP 18 30341309 30341309 single base substitution C T intron_variant LIRI-JP 18 30341763 30341763 single base substitution A T intron_variant LIRI-JP 18 30341923 30341923 single base substitution A C intron_variant LIRI-JP 18 30341958 30341958 single base substitution T C intron_variant LIRI-JP 18 30343649 30343649 single base substitution G A intron_variant LIRI-JP 18 30344352 30344352 single base substitution T A intron_variant LIRI-JP 18 30344780 30344780 single base substitution A G intron_variant LIRI-JP 18 30345253 30345253 single base substitution G A downstream_gene_variant LIRI-JP 18 30345253 30345253 single base substitution G A intron_variant LIRI-JP 18 30346079 30346079 single base substitution T C downstream_gene_variant LIRI-JP 18 30346079 30346079 single base substitution T C intron_variant LIRI-JP 18 30346875 30346875 single base substitution T C downstream_gene_variant LIRI-JP 18 30346875 30346875 single base substitution T C intron_variant LIRI-JP 18 30346911 30346911 single base substitution T C downstream_gene_variant LIRI-JP 18 30346911 30346911 single base substitution T C intron_variant LIRI-JP 18 30347399 30347399 single base substitution C T downstream_gene_variant LIRI-JP 18 30347399 30347399 single base substitution C T intron_variant LIRI-JP 18 30348484 30348484 single base substitution T A downstream_gene_variant LIRI-JP 18 30348484 30348484 single base substitution T A intron_variant LIRI-JP 18 30352991 30352991 single base substitution G T 5_prime_UTR_variant LIRI-JP 18 30352991 30352991 single base substitution G T upstream_gene_variant LIRI-JP 18 30353848 30353848 single base substitution T G upstream_gene_variant LIRI-JP 18 30354765 30354765 single base substitution T C upstream_gene_variant LIRI-JP 18 30354783 30354783 single base substitution C T upstream_gene_variant LIRI-JP 18 30355168 30355168 single base substitution T A upstream_gene_variant LIRI-JP 18 30355249 30355249 single base substitution A G upstream_gene_variant LIRI-JP 18 30356104 30356104 single base substitution G C upstream_gene_variant LIRI-JP 18 30356730 30356730 single base substitution G A upstream_gene_variant LIRI-JP 18 30357319 30357319 single base substitution A G upstream_gene_variant LUSC-KR 18 30247713 30247713 single base substitution T C downstream_gene_variant LUSC-KR 18 30248831 30248831 single base substitution G T downstream_gene_variant LUSC-KR 18 30254072 30254072 single base substitution C A 3_prime_UTR_variant LUSC-KR 18 30262628 30262628 single base substitution G C intron_variant LUSC-KR 18 30263260 30263260 single base substitution C A intron_variant LUSC-KR 18 30263482 30263482 single base substitution A T intron_variant LUSC-KR 18 30263602 30263602 single base substitution C A intron_variant LUSC-KR 18 30267309 30267309 single base substitution G T intron_variant LUSC-KR 18 30268100 30268100 single base substitution C T intron_variant LUSC-KR 18 30268558 30268558 single base substitution G C intron_variant LUSC-KR 18 30268842 30268842 single base substitution G A intron_variant LUSC-KR 18 30272412 30272412 single base substitution G A intron_variant LUSC-KR 18 30272576 30272576 single base substitution C T intron_variant LUSC-KR 18 30272611 30272611 single base substitution C G intron_variant LUSC-KR 18 30274397 30274397 single base substitution C A intron_variant LUSC-KR 18 30275459 30275459 single base substitution C G missense_variant V376L 1126G>C LUSC-KR 18 30275652 30275652 single base substitution C A intron_variant LUSC-KR 18 30276176 30276176 single base substitution G A intron_variant LUSC-KR 18 30276939 30276939 single base substitution G C intron_variant LUSC-KR 18 30280627 30280627 single base substitution C A intron_variant LUSC-KR 18 30280915 30280915 single base substitution A C intron_variant LUSC-KR 18 30283281 30283281 single base substitution G C intron_variant LUSC-KR 18 30286858 30286858 single base substitution G A intron_variant LUSC-KR 18 30288778 30288778 single base substitution G A intron_variant LUSC-KR 18 30290668 30290668 single base substitution G A intron_variant LUSC-KR 18 30291812 30291812 single base substitution C T intron_variant LUSC-KR 18 30294517 30294517 single base substitution T C intron_variant LUSC-KR 18 30296581 30296581 single base substitution C A intron_variant LUSC-KR 18 30296938 30296938 single base substitution A G intron_variant LUSC-KR 18 30296980 30296980 single base substitution C A intron_variant LUSC-KR 18 30297412 30297412 single base substitution C A intron_variant LUSC-KR 18 30301024 30301024 single base substitution T G intron_variant LUSC-KR 18 30301283 30301283 single base substitution C A intron_variant LUSC-KR 18 30302424 30302424 single base substitution A G intron_variant LUSC-KR 18 30303140 30303140 single base substitution G T intron_variant LUSC-KR 18 30303222 30303222 single base substitution T G intron_variant LUSC-KR 18 30305290 30305290 single base substitution G A intron_variant LUSC-KR 18 30313689 30313689 single base substitution C A 3_prime_UTR_variant LUSC-KR 18 30313689 30313689 single base substitution C A intron_variant LUSC-KR 18 30314610 30314610 single base substitution A G intron_variant LUSC-KR 18 30314782 30314782 single base substitution C T intron_variant LUSC-KR 18 30317625 30317625 single base substitution C A intron_variant LUSC-KR 18 30318575 30318575 single base substitution A T intron_variant LUSC-KR 18 30320513 30320513 single base substitution A T intron_variant LUSC-KR 18 30320631 30320631 single base substitution T C intron_variant LUSC-KR 18 30321156 30321156 single base substitution G C intron_variant LUSC-KR 18 30321893 30321893 single base substitution G T missense_variant T356K 1067C>A LUSC-KR 18 30321991 30321991 single base substitution C A missense_variant M323I 969G>T LUSC-KR 18 30322152 30322152 single base substitution G T intron_variant LUSC-KR 18 30322283 30322283 single base substitution A C intron_variant LUSC-KR 18 30322967 30322967 single base substitution C A intron_variant LUSC-KR 18 30324159 30324159 single base substitution C A intron_variant LUSC-KR 18 30324265 30324265 single base substitution C A intron_variant LUSC-KR 18 30324911 30324911 single base substitution C G intron_variant LUSC-KR 18 30329762 30329762 single base substitution T C intron_variant LUSC-KR 18 30330041 30330041 single base substitution C G intron_variant LUSC-KR 18 30330057 30330057 single base substitution G T intron_variant LUSC-KR 18 30330612 30330612 single base substitution A C intron_variant LUSC-KR 18 30331481 30331481 single base substitution C A intron_variant LUSC-KR 18 30331632 30331632 single base substitution A T intron_variant LUSC-KR 18 30332025 30332025 single base substitution G T intron_variant LUSC-KR 18 30332277 30332277 single base substitution C A intron_variant LUSC-KR 18 30332695 30332695 single base substitution C T intron_variant LUSC-KR 18 30336831 30336831 single base substitution A G intron_variant LUSC-KR 18 30337143 30337143 single base substitution G T intron_variant LUSC-KR 18 30337144 30337144 single base substitution G T intron_variant LUSC-KR 18 30338104 30338104 single base substitution G C intron_variant LUSC-KR 18 30338853 30338853 single base substitution C T intron_variant LUSC-KR 18 30340691 30340691 single base substitution G T intron_variant LUSC-KR 18 30343079 30343079 single base substitution T A intron_variant LUSC-KR 18 30344013 30344013 single base substitution T C intron_variant LUSC-KR 18 30344502 30344502 single base substitution C G intron_variant LUSC-KR 18 30344928 30344928 single base substitution C G intron_variant LUSC-KR 18 30346046 30346046 single base substitution G T downstream_gene_variant LUSC-KR 18 30346046 30346046 single base substitution G T intron_variant LUSC-KR 18 30347004 30347004 single base substitution C G downstream_gene_variant LUSC-KR 18 30347004 30347004 single base substitution C G intron_variant LUSC-KR 18 30350570 30350570 single base substitution T C 5_prime_UTR_variant LUSC-KR 18 30350570 30350570 single base substitution T C synonymous_variant A22A 66A>G LUSC-US 18 30254622 30254622 single base substitution A C stop_lost *629E 1885T>G LUSC-US 18 30260198 30260198 single base substitution G T missense_variant R508S 1522C>A LUSC-US 18 30275436 30275436 single base substitution C T stop_gained W383* 1149G>A LUSC-US 18 30321943 30321943 single base substitution G T missense_variant S339R 1017C>A LUSC-US 18 30321982 30321982 single base substitution C A missense_variant L326F 978G>T LUSC-US 18 30349716 30349716 single base substitution G T downstream_gene_variant LUSC-US 18 30349716 30349716 single base substitution G T stop_gained S280* 839C>A LUSC-US 18 30350180 30350180 single base substitution C A synonymous_variant L125L 375G>T LUSC-US 18 30350180 30350180 single base substitution C A synonymous_variant L152L 456G>T LUSC-US 18 30350379 30350379 single base substitution C G missense_variant R59P 176G>C LUSC-US 18 30350379 30350379 single base substitution C G missense_variant R86P 257G>C MALY-DE 18 30249521 30249523 deletion of <=200bp GTT - downstream_gene_variant MALY-DE 18 30250604 30250604 single base substitution T G downstream_gene_variant MALY-DE 18 30252218 30252218 single base substitution A G downstream_gene_variant MALY-DE 18 30257390 30257390 single base substitution T C intron_variant MALY-DE 18 30258967 30258967 single base substitution G A intron_variant MALY-DE 18 30259660 30259660 single base substitution A T intron_variant MALY-DE 18 30265882 30265882 single base substitution A C intron_variant MALY-DE 18 30268723 30268723 single base substitution A G intron_variant MALY-DE 18 30274855 30274855 single base substitution T C intron_variant MALY-DE 18 30291874 30291874 single base substitution A C intron_variant MALY-DE 18 30295562 30295562 single base substitution T C intron_variant MALY-DE 18 30296456 30296456 single base substitution C A intron_variant MALY-DE 18 30297439 30297439 single base substitution T C intron_variant MALY-DE 18 30298138 30298139 deletion of <=200bp TA - intron_variant MALY-DE 18 30299664 30299664 single base substitution C G intron_variant MALY-DE 18 30301491 30301491 deletion of <=200bp T - intron_variant MALY-DE 18 30323338 30323338 single base substitution T C intron_variant MALY-DE 18 30340417 30340417 single base substitution T C intron_variant MALY-DE 18 30341808 30341808 insertion of <=200bp - T intron_variant MALY-DE 18 30343472 30343472 single base substitution G C intron_variant MALY-DE 18 30349256 30349256 single base substitution G C downstream_gene_variant MALY-DE 18 30349256 30349256 single base substitution G C intron_variant MALY-DE 18 30349596 30349596 single base substitution G A downstream_gene_variant MALY-DE 18 30349596 30349596 single base substitution G A intron_variant MALY-DE 18 30349614 30349614 single base substitution G C downstream_gene_variant MALY-DE 18 30349614 30349614 single base substitution G C missense_variant A314G 941C>G MALY-DE 18 30349618 30349618 single base substitution G A downstream_gene_variant MALY-DE 18 30349618 30349618 single base substitution G A synonymous_variant L313L 937C>T MALY-DE 18 30349619 30349619 single base substitution G C downstream_gene_variant MALY-DE 18 30349619 30349619 single base substitution G C missense_variant S312R 936C>G MALY-DE 18 30349655 30349655 single base substitution G C downstream_gene_variant MALY-DE 18 30349655 30349655 single base substitution G C stop_gained Y300* 900C>G MALY-DE 18 30349939 30349939 single base substitution T A downstream_gene_variant MALY-DE 18 30349939 30349939 single base substitution T A missense_variant N206Y 616A>T MALY-DE 18 30349991 30349991 single base substitution C G missense_variant Q188H 564G>C MALY-DE 18 30349991 30349991 single base substitution C G missense_variant Q215H 645G>C MALY-DE 18 30350041 30350041 single base substitution G A missense_variant L172F 514C>T MALY-DE 18 30350041 30350041 single base substitution G A missense_variant L199F 595C>T MALY-DE 18 30350095 30350095 single base substitution C T missense_variant V154M 460G>A MALY-DE 18 30350095 30350095 single base substitution C T missense_variant V181M 541G>A MALY-DE 18 30350225 30350225 single base substitution G A synonymous_variant S110S 330C>T MALY-DE 18 30350225 30350225 single base substitution G A synonymous_variant S137S 411C>T MALY-DE 18 30350902 30350902 single base substitution C T intron_variant MALY-DE 18 30353834 30353834 single base substitution A G upstream_gene_variant MALY-DE 18 30354913 30354916 deletion of <=200bp AGAT - upstream_gene_variant MALY-DE 18 30357887 30357887 single base substitution A T upstream_gene_variant MELA-AU 18 30247684 30247684 single base substitution C T downstream_gene_variant MELA-AU 18 30247887 30247887 single base substitution G A downstream_gene_variant MELA-AU 18 30248165 30248165 single base substitution G A downstream_gene_variant MELA-AU 18 30248358 30248358 single base substitution C T downstream_gene_variant MELA-AU 18 30248437 30248437 single base substitution G A downstream_gene_variant MELA-AU 18 30248554 30248554 single base substitution G A downstream_gene_variant MELA-AU 18 30248607 30248607 single base substitution C T downstream_gene_variant MELA-AU 18 30248786 30248786 single base substitution G A downstream_gene_variant MELA-AU 18 30248971 30248971 single base substitution G A downstream_gene_variant MELA-AU 18 30249722 30249722 single base substitution G A downstream_gene_variant MELA-AU 18 30249998 30249998 single base substitution G A downstream_gene_variant MELA-AU 18 30250269 30250269 single base substitution G A downstream_gene_variant MELA-AU 18 30250270 30250270 single base substitution G A downstream_gene_variant MELA-AU 18 30250334 30250334 single base substitution C T downstream_gene_variant MELA-AU 18 30250506 30250506 single base substitution C T downstream_gene_variant MELA-AU 18 30250566 30250566 single base substitution G A downstream_gene_variant MELA-AU 18 30250766 30250766 single base substitution G A downstream_gene_variant MELA-AU 18 30250834 30250834 single base substitution G A downstream_gene_variant MELA-AU 18 30251038 30251038 single base substitution C T downstream_gene_variant MELA-AU 18 30251506 30251506 single base substitution G A downstream_gene_variant MELA-AU 18 30251750 30251750 single base substitution G A downstream_gene_variant MELA-AU 18 30251775 30251775 single base substitution G A downstream_gene_variant MELA-AU 18 30251949 30251949 single base substitution G A downstream_gene_variant MELA-AU 18 30251957 30251957 single base substitution A G downstream_gene_variant MELA-AU 18 30252262 30252262 single base substitution G A downstream_gene_variant MELA-AU 18 30252460 30252460 single base substitution C T downstream_gene_variant MELA-AU 18 30253014 30253014 single base substitution G A 3_prime_UTR_variant MELA-AU 18 30253221 30253222 multiple base substitution (>=2bp and <=200bp) GT AC 3_prime_UTR_variant MELA-AU 18 30253356 30253356 single base substitution C T 3_prime_UTR_variant MELA-AU 18 30253529 30253530 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 18 30253540 30253540 single base substitution C T 3_prime_UTR_variant MELA-AU 18 30253575 30253575 single base substitution G A 3_prime_UTR_variant MELA-AU 18 30253719 30253719 single base substitution C T 3_prime_UTR_variant MELA-AU 18 30253777 30253777 single base substitution T C 3_prime_UTR_variant MELA-AU 18 30254073 30254073 single base substitution G A 3_prime_UTR_variant MELA-AU 18 30254207 30254207 single base substitution T C 3_prime_UTR_variant MELA-AU 18 30254508 30254508 single base substitution G A 3_prime_UTR_variant MELA-AU 18 30254561 30254561 single base substitution G A 3_prime_UTR_variant MELA-AU 18 30255111 30255111 single base substitution G A intron_variant MELA-AU 18 30255688 30255688 single base substitution G A intron_variant MELA-AU 18 30256018 30256018 single base substitution C T intron_variant MELA-AU 18 30256093 30256093 single base substitution G A intron_variant MELA-AU 18 30256260 30256260 single base substitution G A intron_variant MELA-AU 18 30256332 30256332 single base substitution A T intron_variant MELA-AU 18 30256334 30256334 single base substitution A T intron_variant MELA-AU 18 30256457 30256457 single base substitution G A intron_variant MELA-AU 18 30256556 30256569 deletion of <=200bp TGGGATCTACTTCA - intron_variant MELA-AU 18 30256630 30256630 single base substitution G A intron_variant MELA-AU 18 30256636 30256636 single base substitution G T intron_variant MELA-AU 18 30256676 30256676 single base substitution G A intron_variant MELA-AU 18 30256715 30256715 single base substitution G A intron_variant MELA-AU 18 30256724 30256724 single base substitution G A intron_variant MELA-AU 18 30256726 30256726 single base substitution G A intron_variant MELA-AU 18 30256777 30256777 single base substitution G A intron_variant MELA-AU 18 30257286 30257286 single base substitution G A synonymous_variant S532S 1596C>T MELA-AU 18 30257349 30257349 single base substitution T C intron_variant MELA-AU 18 30257728 30257728 single base substitution C T intron_variant MELA-AU 18 30258230 30258230 single base substitution C T intron_variant MELA-AU 18 30258344 30258344 single base substitution G A intron_variant MELA-AU 18 30258382 30258382 single base substitution C T intron_variant MELA-AU 18 30258411 30258411 single base substitution C T intron_variant MELA-AU 18 30258466 30258466 single base substitution C T intron_variant MELA-AU 18 30258854 30258854 single base substitution A T intron_variant MELA-AU 18 30258864 30258864 single base substitution T C intron_variant MELA-AU 18 30259412 30259412 single base substitution G A intron_variant MELA-AU 18 30259447 30259447 single base substitution G A intron_variant MELA-AU 18 30259749 30259749 single base substitution C T intron_variant MELA-AU 18 30259784 30259784 single base substitution A T intron_variant MELA-AU 18 30260074 30260074 single base substitution G A intron_variant MELA-AU 18 30260146 30260146 single base substitution C T missense_variant G525E 1574G>A MELA-AU 18 30260234 30260234 single base substitution C T missense_variant D496N 1486G>A MELA-AU 18 30260420 30260420 single base substitution G A synonymous_variant L461L 1381C>T MELA-AU 18 30260651 30260651 single base substitution G C intron_variant MELA-AU 18 30260672 30260672 single base substitution C T intron_variant MELA-AU 18 30260892 30260892 single base substitution C T intron_variant MELA-AU 18 30260913 30260913 single base substitution G A intron_variant MELA-AU 18 30260992 30260992 single base substitution C T intron_variant MELA-AU 18 30261263 30261263 single base substitution G A intron_variant MELA-AU 18 30261383 30261383 single base substitution G A intron_variant MELA-AU 18 30261481 30261481 single base substitution G A intron_variant MELA-AU 18 30261656 30261656 single base substitution C T intron_variant MELA-AU 18 30262196 30262196 single base substitution T C intron_variant MELA-AU 18 30262329 30262329 single base substitution G A intron_variant MELA-AU 18 30262355 30262355 single base substitution G A intron_variant MELA-AU 18 30262386 30262386 single base substitution C T intron_variant MELA-AU 18 30262872 30262872 single base substitution C T intron_variant MELA-AU 18 30262893 30262893 single base substitution C T intron_variant MELA-AU 18 30262928 30262928 single base substitution G A intron_variant MELA-AU 18 30263045 30263045 single base substitution C T intron_variant MELA-AU 18 30263235 30263235 single base substitution G A intron_variant MELA-AU 18 30263956 30263956 single base substitution G A intron_variant MELA-AU 18 30264416 30264416 single base substitution C T intron_variant MELA-AU 18 30264418 30264418 single base substitution G A intron_variant MELA-AU 18 30264547 30264547 single base substitution T C intron_variant MELA-AU 18 30264557 30264558 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 30264686 30264686 single base substitution T C intron_variant MELA-AU 18 30264824 30264824 single base substitution G A intron_variant MELA-AU 18 30264855 30264855 single base substitution C T intron_variant MELA-AU 18 30264869 30264869 single base substitution G A intron_variant MELA-AU 18 30264892 30264892 single base substitution C T intron_variant MELA-AU 18 30265257 30265257 single base substitution G A intron_variant MELA-AU 18 30265299 30265299 single base substitution G A intron_variant MELA-AU 18 30265349 30265349 single base substitution G A intron_variant MELA-AU 18 30265900 30265900 single base substitution G A intron_variant MELA-AU 18 30266460 30266460 single base substitution C T intron_variant MELA-AU 18 30266912 30266912 single base substitution C T intron_variant MELA-AU 18 30267040 30267040 single base substitution C T intron_variant MELA-AU 18 30267172 30267172 single base substitution C T missense_variant S395N 1184G>A MELA-AU 18 30267316 30267316 single base substitution G A intron_variant MELA-AU 18 30267381 30267381 single base substitution C T intron_variant MELA-AU 18 30267494 30267494 single base substitution G A intron_variant MELA-AU 18 30267515 30267515 single base substitution A T intron_variant MELA-AU 18 30267570 30267570 single base substitution C T intron_variant MELA-AU 18 30267630 30267630 single base substitution A G intron_variant MELA-AU 18 30267726 30267726 single base substitution G A intron_variant MELA-AU 18 30267736 30267736 single base substitution G A intron_variant MELA-AU 18 30267744 30267744 single base substitution C T intron_variant MELA-AU 18 30268064 30268064 single base substitution A T intron_variant MELA-AU 18 30268086 30268086 single base substitution A T intron_variant MELA-AU 18 30268539 30268539 single base substitution G A intron_variant MELA-AU 18 30268556 30268556 single base substitution G A intron_variant MELA-AU 18 30268562 30268562 single base substitution G A intron_variant MELA-AU 18 30268704 30268704 single base substitution G A intron_variant MELA-AU 18 30268853 30268853 single base substitution T C intron_variant MELA-AU 18 30269542 30269542 single base substitution T G intron_variant MELA-AU 18 30269772 30269772 single base substitution G A intron_variant MELA-AU 18 30270104 30270104 single base substitution G A intron_variant MELA-AU 18 30270227 30270227 single base substitution G A intron_variant MELA-AU 18 30270476 30270476 single base substitution G A intron_variant MELA-AU 18 30270489 30270489 single base substitution C T intron_variant MELA-AU 18 30270772 30270772 single base substitution G A intron_variant MELA-AU 18 30270901 30270901 single base substitution G A intron_variant MELA-AU 18 30270939 30270939 single base substitution G A intron_variant MELA-AU 18 30271152 30271152 single base substitution C T intron_variant MELA-AU 18 30271201 30271201 single base substitution C T intron_variant MELA-AU 18 30271402 30271402 single base substitution G A intron_variant MELA-AU 18 30271656 30271656 single base substitution G A intron_variant MELA-AU 18 30271708 30271708 single base substitution G A intron_variant MELA-AU 18 30271734 30271734 single base substitution T A intron_variant MELA-AU 18 30271935 30271935 single base substitution C T intron_variant MELA-AU 18 30272361 30272361 single base substitution G A intron_variant MELA-AU 18 30272386 30272386 single base substitution C T intron_variant MELA-AU 18 30272926 30272926 single base substitution G A intron_variant MELA-AU 18 30273227 30273227 single base substitution G A intron_variant MELA-AU 18 30273374 30273374 single base substitution C G intron_variant MELA-AU 18 30273376 30273376 single base substitution C G intron_variant MELA-AU 18 30273436 30273436 single base substitution G A intron_variant MELA-AU 18 30273513 30273513 single base substitution G A intron_variant MELA-AU 18 30273593 30273593 single base substitution G A intron_variant MELA-AU 18 30273632 30273632 single base substitution G A intron_variant MELA-AU 18 30274435 30274435 single base substitution C T intron_variant MELA-AU 18 30274708 30274708 single base substitution C T intron_variant MELA-AU 18 30274830 30274830 single base substitution G A intron_variant MELA-AU 18 30274880 30274880 single base substitution G C intron_variant MELA-AU 18 30275176 30275176 single base substitution G A intron_variant MELA-AU 18 30275208 30275208 single base substitution C T intron_variant MELA-AU 18 30275555 30275555 single base substitution C T intron_variant MELA-AU 18 30275727 30275727 single base substitution C T intron_variant MELA-AU 18 30275728 30275728 single base substitution C T intron_variant MELA-AU 18 30275885 30275885 single base substitution G A intron_variant MELA-AU 18 30276019 30276019 single base substitution C T intron_variant MELA-AU 18 30276090 30276090 single base substitution C T intron_variant MELA-AU 18 30276341 30276341 single base substitution C T intron_variant MELA-AU 18 30276564 30276564 single base substitution G A intron_variant MELA-AU 18 30277229 30277229 single base substitution T A intron_variant MELA-AU 18 30277741 30277741 single base substitution G A intron_variant MELA-AU 18 30278356 30278356 single base substitution G A intron_variant MELA-AU 18 30278456 30278456 single base substitution G A intron_variant MELA-AU 18 30278585 30278585 single base substitution G A intron_variant MELA-AU 18 30278691 30278691 single base substitution G A intron_variant MELA-AU 18 30279153 30279153 single base substitution G A intron_variant MELA-AU 18 30279349 30279349 single base substitution G A intron_variant MELA-AU 18 30279561 30279562 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 30279579 30279579 single base substitution C T intron_variant MELA-AU 18 30279880 30279880 single base substitution C T intron_variant MELA-AU 18 30280129 30280129 single base substitution C T intron_variant MELA-AU 18 30280758 30280758 single base substitution G A intron_variant MELA-AU 18 30280763 30280764 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 30280917 30280917 single base substitution G A intron_variant MELA-AU 18 30281031 30281031 single base substitution A T intron_variant MELA-AU 18 30281204 30281204 single base substitution G A intron_variant MELA-AU 18 30281537 30281537 single base substitution G A intron_variant MELA-AU 18 30282136 30282136 single base substitution G A intron_variant MELA-AU 18 30282319 30282319 single base substitution A T intron_variant MELA-AU 18 30282442 30282442 single base substitution T C intron_variant MELA-AU 18 30282505 30282505 single base substitution G A intron_variant MELA-AU 18 30282564 30282564 single base substitution G A intron_variant MELA-AU 18 30282665 30282665 single base substitution C T intron_variant MELA-AU 18 30282672 30282672 single base substitution G A intron_variant MELA-AU 18 30282694 30282694 single base substitution A G intron_variant MELA-AU 18 30282815 30282815 single base substitution T C intron_variant MELA-AU 18 30282930 30282930 single base substitution C T intron_variant MELA-AU 18 30283199 30283199 single base substitution G T intron_variant MELA-AU 18 30283495 30283495 single base substitution C T intron_variant MELA-AU 18 30283864 30283864 single base substitution T A intron_variant MELA-AU 18 30284234 30284234 single base substitution C T intron_variant MELA-AU 18 30284293 30284293 single base substitution G A intron_variant MELA-AU 18 30284434 30284434 single base substitution C T intron_variant MELA-AU 18 30284452 30284452 single base substitution G A intron_variant MELA-AU 18 30284973 30284973 single base substitution G A intron_variant MELA-AU 18 30285147 30285147 single base substitution G A intron_variant MELA-AU 18 30285348 30285348 single base substitution C A intron_variant MELA-AU 18 30285349 30285349 single base substitution C T intron_variant MELA-AU 18 30285787 30285787 single base substitution C A intron_variant MELA-AU 18 30285944 30285944 single base substitution A C intron_variant MELA-AU 18 30286090 30286091 multiple base substitution (>=2bp and <=200bp) GA AT intron_variant MELA-AU 18 30286531 30286531 single base substitution C T intron_variant MELA-AU 18 30286583 30286583 single base substitution G A intron_variant MELA-AU 18 30287118 30287118 single base substitution G A intron_variant MELA-AU 18 30287233 30287233 single base substitution C T intron_variant MELA-AU 18 30287280 30287280 single base substitution G A intron_variant MELA-AU 18 30287302 30287302 single base substitution C T intron_variant MELA-AU 18 30287631 30287631 single base substitution C T intron_variant MELA-AU 18 30287760 30287760 single base substitution C T intron_variant MELA-AU 18 30288053 30288053 single base substitution A G intron_variant MELA-AU 18 30288092 30288092 single base substitution C G intron_variant MELA-AU 18 30288346 30288346 single base substitution C T intron_variant MELA-AU 18 30288578 30288578 single base substitution C T intron_variant MELA-AU 18 30288768 30288768 single base substitution C T intron_variant MELA-AU 18 30288801 30288801 single base substitution C T intron_variant MELA-AU 18 30288816 30288816 single base substitution C T intron_variant MELA-AU 18 30288897 30288897 single base substitution A G intron_variant MELA-AU 18 30288900 30288900 single base substitution C T intron_variant MELA-AU 18 30289030 30289030 single base substitution C T intron_variant MELA-AU 18 30289174 30289174 single base substitution G A intron_variant MELA-AU 18 30289562 30289562 single base substitution C T intron_variant MELA-AU 18 30289598 30289598 single base substitution G T intron_variant MELA-AU 18 30289602 30289602 single base substitution G A intron_variant MELA-AU 18 30290017 30290017 single base substitution G A intron_variant MELA-AU 18 30290450 30290450 single base substitution G A intron_variant MELA-AU 18 30290457 30290457 single base substitution G A intron_variant MELA-AU 18 30290748 30290748 single base substitution G A intron_variant MELA-AU 18 30291527 30291527 single base substitution A C intron_variant MELA-AU 18 30291599 30291599 single base substitution C T intron_variant MELA-AU 18 30291861 30291861 single base substitution T G intron_variant MELA-AU 18 30291894 30291894 single base substitution G A intron_variant MELA-AU 18 30291961 30291961 single base substitution A G intron_variant MELA-AU 18 30292544 30292544 single base substitution G A intron_variant MELA-AU 18 30292897 30292897 single base substitution A T intron_variant MELA-AU 18 30292947 30292947 single base substitution C T intron_variant MELA-AU 18 30293206 30293206 single base substitution C T intron_variant MELA-AU 18 30293267 30293267 single base substitution G A intron_variant MELA-AU 18 30293358 30293358 single base substitution C A intron_variant MELA-AU 18 30293922 30293922 single base substitution T G intron_variant MELA-AU 18 30294150 30294150 single base substitution G A intron_variant MELA-AU 18 30294652 30294652 single base substitution G A intron_variant MELA-AU 18 30295192 30295192 single base substitution T C intron_variant MELA-AU 18 30295399 30295399 single base substitution G A intron_variant MELA-AU 18 30295424 30295424 single base substitution A G intron_variant MELA-AU 18 30295482 30295482 single base substitution T C intron_variant MELA-AU 18 30295510 30295510 single base substitution T C intron_variant MELA-AU 18 30295533 30295533 single base substitution A G intron_variant MELA-AU 18 30295546 30295546 single base substitution T G intron_variant MELA-AU 18 30295874 30295874 single base substitution T A intron_variant MELA-AU 18 30296007 30296007 single base substitution C T intron_variant MELA-AU 18 30296015 30296015 single base substitution G A intron_variant MELA-AU 18 30296350 30296350 single base substitution T C intron_variant MELA-AU 18 30296652 30296652 single base substitution G A intron_variant MELA-AU 18 30296725 30296725 single base substitution C T intron_variant MELA-AU 18 30296758 30296758 single base substitution C T intron_variant MELA-AU 18 30296798 30296798 single base substitution C T intron_variant MELA-AU 18 30296885 30296885 single base substitution C T intron_variant MELA-AU 18 30296987 30296987 single base substitution T C intron_variant MELA-AU 18 30297042 30297042 single base substitution C T intron_variant MELA-AU 18 30297267 30297267 single base substitution G A intron_variant MELA-AU 18 30297270 30297270 single base substitution G A intron_variant MELA-AU 18 30297462 30297462 single base substitution C T intron_variant MELA-AU 18 30297563 30297563 single base substitution C T intron_variant MELA-AU 18 30297578 30297578 single base substitution C T intron_variant MELA-AU 18 30297692 30297692 single base substitution C T intron_variant MELA-AU 18 30298001 30298001 single base substitution C T intron_variant MELA-AU 18 30298020 30298020 single base substitution T A intron_variant MELA-AU 18 30298092 30298092 single base substitution C T intron_variant MELA-AU 18 30298572 30298572 single base substitution T A intron_variant MELA-AU 18 30298644 30298644 single base substitution C T intron_variant MELA-AU 18 30299540 30299540 single base substitution C T intron_variant MELA-AU 18 30299649 30299649 single base substitution C T intron_variant MELA-AU 18 30299659 30299659 single base substitution G A intron_variant MELA-AU 18 30299743 30299743 single base substitution G A intron_variant MELA-AU 18 30299856 30299856 single base substitution C T intron_variant MELA-AU 18 30300269 30300269 single base substitution G A intron_variant MELA-AU 18 30300574 30300574 single base substitution G A intron_variant MELA-AU 18 30300707 30300707 single base substitution C T intron_variant MELA-AU 18 30300761 30300761 single base substitution C T intron_variant MELA-AU 18 30300779 30300779 single base substitution G A intron_variant MELA-AU 18 30300919 30300919 single base substitution C T intron_variant MELA-AU 18 30300974 30300974 single base substitution G A intron_variant MELA-AU 18 30301551 30301551 single base substitution G A intron_variant MELA-AU 18 30301597 30301597 single base substitution A T intron_variant MELA-AU 18 30301671 30301671 single base substitution C T intron_variant MELA-AU 18 30301720 30301720 single base substitution G A intron_variant MELA-AU 18 30302033 30302033 single base substitution G A intron_variant MELA-AU 18 30302174 30302174 single base substitution T C intron_variant MELA-AU 18 30302438 30302438 single base substitution G A intron_variant MELA-AU 18 30302749 30302749 single base substitution C T intron_variant MELA-AU 18 30303376 30303376 single base substitution T G intron_variant MELA-AU 18 30303546 30303546 single base substitution C T intron_variant MELA-AU 18 30303730 30303730 single base substitution G C intron_variant MELA-AU 18 30304385 30304385 single base substitution C T intron_variant MELA-AU 18 30304545 30304545 single base substitution G A intron_variant MELA-AU 18 30304976 30304976 single base substitution C T intron_variant MELA-AU 18 30304977 30304977 single base substitution C T intron_variant MELA-AU 18 30305108 30305108 single base substitution C T intron_variant MELA-AU 18 30305183 30305183 single base substitution G A intron_variant MELA-AU 18 30305222 30305222 single base substitution G A intron_variant MELA-AU 18 30305311 30305311 single base substitution C T intron_variant MELA-AU 18 30305881 30305881 single base substitution G A intron_variant MELA-AU 18 30306309 30306309 single base substitution G A intron_variant MELA-AU 18 30306359 30306359 single base substitution G A intron_variant MELA-AU 18 30306462 30306462 single base substitution C A intron_variant MELA-AU 18 30306743 30306743 single base substitution A C intron_variant MELA-AU 18 30306912 30306912 single base substitution C T intron_variant MELA-AU 18 30307020 30307020 single base substitution G A intron_variant MELA-AU 18 30307023 30307023 single base substitution G A intron_variant MELA-AU 18 30307971 30307971 single base substitution C G intron_variant MELA-AU 18 30308085 30308085 single base substitution G A intron_variant MELA-AU 18 30308150 30308150 single base substitution C T intron_variant MELA-AU 18 30308800 30308800 single base substitution A C downstream_gene_variant MELA-AU 18 30308800 30308800 single base substitution A C intron_variant MELA-AU 18 30309147 30309147 single base substitution C T downstream_gene_variant MELA-AU 18 30309147 30309147 single base substitution C T intron_variant MELA-AU 18 30309155 30309155 single base substitution C T downstream_gene_variant MELA-AU 18 30309155 30309155 single base substitution C T intron_variant MELA-AU 18 30309494 30309494 single base substitution G A downstream_gene_variant MELA-AU 18 30309494 30309494 single base substitution G A intron_variant MELA-AU 18 30309913 30309913 single base substitution A T downstream_gene_variant MELA-AU 18 30309913 30309913 single base substitution A T intron_variant MELA-AU 18 30310862 30310862 single base substitution A T downstream_gene_variant MELA-AU 18 30310862 30310862 single base substitution A T intron_variant MELA-AU 18 30311835 30311835 single base substitution C T downstream_gene_variant MELA-AU 18 30311835 30311835 single base substitution C T intron_variant MELA-AU 18 30311987 30311987 single base substitution C T downstream_gene_variant MELA-AU 18 30311987 30311987 single base substitution C T intron_variant MELA-AU 18 30312051 30312051 single base substitution G A downstream_gene_variant MELA-AU 18 30312051 30312051 single base substitution G A intron_variant MELA-AU 18 30312434 30312434 single base substitution C T downstream_gene_variant MELA-AU 18 30312434 30312434 single base substitution C T intron_variant MELA-AU 18 30312908 30312908 single base substitution G A downstream_gene_variant MELA-AU 18 30312908 30312908 single base substitution G A intron_variant MELA-AU 18 30313672 30313672 single base substitution G A 3_prime_UTR_variant MELA-AU 18 30313672 30313672 single base substitution G A intron_variant MELA-AU 18 30314330 30314330 single base substitution C T intron_variant MELA-AU 18 30314363 30314363 single base substitution C T intron_variant MELA-AU 18 30314367 30314367 single base substitution C T intron_variant MELA-AU 18 30314556 30314556 single base substitution G A intron_variant MELA-AU 18 30314660 30314660 single base substitution G A intron_variant MELA-AU 18 30315373 30315373 single base substitution G T intron_variant MELA-AU 18 30316284 30316284 single base substitution G A intron_variant MELA-AU 18 30316581 30316581 single base substitution A T intron_variant MELA-AU 18 30316682 30316682 single base substitution C A intron_variant MELA-AU 18 30316737 30316737 single base substitution C T intron_variant MELA-AU 18 30316835 30316835 single base substitution G A intron_variant MELA-AU 18 30316865 30316865 single base substitution G A intron_variant MELA-AU 18 30317002 30317002 single base substitution G A intron_variant MELA-AU 18 30317365 30317365 single base substitution C T intron_variant MELA-AU 18 30317525 30317525 single base substitution C T intron_variant MELA-AU 18 30317665 30317665 single base substitution C T intron_variant MELA-AU 18 30317703 30317703 single base substitution C T intron_variant MELA-AU 18 30317734 30317734 single base substitution A C intron_variant MELA-AU 18 30317866 30317866 single base substitution G A intron_variant MELA-AU 18 30318136 30318136 single base substitution G A intron_variant MELA-AU 18 30318186 30318186 single base substitution A T intron_variant MELA-AU 18 30318340 30318340 single base substitution G A intron_variant MELA-AU 18 30318667 30318667 single base substitution T A intron_variant MELA-AU 18 30318766 30318766 single base substitution C T intron_variant MELA-AU 18 30319254 30319254 single base substitution G A intron_variant MELA-AU 18 30319465 30319485 deletion of <=200bp AAACTATATATTTTTAAGTAC - intron_variant MELA-AU 18 30319659 30319659 single base substitution T C intron_variant MELA-AU 18 30320098 30320098 single base substitution C T intron_variant MELA-AU 18 30320177 30320177 single base substitution C T intron_variant MELA-AU 18 30320736 30320736 single base substitution C T intron_variant MELA-AU 18 30320755 30320755 single base substitution C T intron_variant MELA-AU 18 30321090 30321090 single base substitution G A intron_variant MELA-AU 18 30321091 30321091 single base substitution C T intron_variant MELA-AU 18 30321610 30321610 single base substitution G A intron_variant MELA-AU 18 30321616 30321616 single base substitution C T intron_variant MELA-AU 18 30321696 30321696 single base substitution G A intron_variant MELA-AU 18 30321777 30321777 single base substitution G A intron_variant MELA-AU 18 30321779 30321779 single base substitution G A intron_variant MELA-AU 18 30321847 30321847 single base substitution G A intron_variant MELA-AU 18 30321899 30321899 single base substitution A G missense_variant I354T 1061T>C MELA-AU 18 30321978 30321978 single base substitution C T missense_variant G328R 982G>A MELA-AU 18 30322076 30322076 single base substitution G A intron_variant MELA-AU 18 30322142 30322142 single base substitution C T intron_variant MELA-AU 18 30322214 30322214 single base substitution C T intron_variant MELA-AU 18 30322375 30322375 single base substitution C T intron_variant MELA-AU 18 30322390 30322390 single base substitution C T intron_variant MELA-AU 18 30322550 30322550 single base substitution G A intron_variant MELA-AU 18 30322784 30322784 single base substitution C T intron_variant MELA-AU 18 30322809 30322809 single base substitution C T intron_variant MELA-AU 18 30322832 30322832 single base substitution G A intron_variant MELA-AU 18 30323086 30323086 single base substitution C T intron_variant MELA-AU 18 30323190 30323190 single base substitution G A intron_variant MELA-AU 18 30323374 30323374 single base substitution G A intron_variant MELA-AU 18 30323437 30323437 single base substitution A C intron_variant MELA-AU 18 30323686 30323686 single base substitution T C intron_variant MELA-AU 18 30323901 30323901 single base substitution G A intron_variant MELA-AU 18 30324259 30324259 single base substitution G A intron_variant MELA-AU 18 30324367 30324367 single base substitution G A intron_variant MELA-AU 18 30324428 30324428 single base substitution G A intron_variant MELA-AU 18 30324602 30324602 single base substitution C T intron_variant MELA-AU 18 30324702 30324702 single base substitution C T intron_variant MELA-AU 18 30325526 30325526 single base substitution A G intron_variant MELA-AU 18 30325668 30325668 single base substitution C T intron_variant MELA-AU 18 30325866 30325866 single base substitution G A intron_variant MELA-AU 18 30326339 30326339 single base substitution C T intron_variant MELA-AU 18 30326417 30326417 single base substitution C T intron_variant MELA-AU 18 30326448 30326448 single base substitution C T intron_variant MELA-AU 18 30326478 30326478 single base substitution C T intron_variant MELA-AU 18 30326483 30326483 single base substitution A T intron_variant MELA-AU 18 30326541 30326541 single base substitution C T intron_variant MELA-AU 18 30326547 30326547 single base substitution C T intron_variant MELA-AU 18 30326662 30326662 single base substitution C T intron_variant MELA-AU 18 30326862 30326862 single base substitution G A intron_variant MELA-AU 18 30326988 30326988 single base substitution C T intron_variant MELA-AU 18 30327206 30327206 single base substitution T A intron_variant MELA-AU 18 30327213 30327213 single base substitution G A intron_variant MELA-AU 18 30327234 30327234 single base substitution G A intron_variant MELA-AU 18 30327402 30327402 single base substitution G A intron_variant MELA-AU 18 30327534 30327534 single base substitution G A intron_variant MELA-AU 18 30327541 30327541 single base substitution G A intron_variant MELA-AU 18 30327593 30327593 single base substitution C T intron_variant MELA-AU 18 30327733 30327733 single base substitution C T intron_variant MELA-AU 18 30327883 30327883 single base substitution G A intron_variant MELA-AU 18 30328600 30328600 single base substitution A T intron_variant MELA-AU 18 30328634 30328634 single base substitution G A intron_variant MELA-AU 18 30328649 30328649 single base substitution C T intron_variant MELA-AU 18 30329011 30329011 single base substitution C T intron_variant MELA-AU 18 30329118 30329118 single base substitution C T intron_variant MELA-AU 18 30329132 30329132 single base substitution C T intron_variant MELA-AU 18 30329310 30329310 single base substitution G A intron_variant MELA-AU 18 30329504 30329504 single base substitution C T intron_variant MELA-AU 18 30329617 30329617 single base substitution G A intron_variant MELA-AU 18 30329624 30329624 single base substitution G A intron_variant MELA-AU 18 30329733 30329733 single base substitution T G intron_variant MELA-AU 18 30330064 30330064 single base substitution C T intron_variant MELA-AU 18 30330065 30330065 single base substitution C T intron_variant MELA-AU 18 30330249 30330249 single base substitution C T intron_variant MELA-AU 18 30330387 30330387 single base substitution C T intron_variant MELA-AU 18 30330504 30330504 single base substitution C T intron_variant MELA-AU 18 30330602 30330602 single base substitution C T intron_variant MELA-AU 18 30330659 30330659 single base substitution C T intron_variant MELA-AU 18 30330732 30330732 single base substitution C T intron_variant MELA-AU 18 30331084 30331084 single base substitution C T intron_variant MELA-AU 18 30331158 30331158 single base substitution G A intron_variant MELA-AU 18 30331275 30331275 single base substitution T C intron_variant MELA-AU 18 30331416 30331416 single base substitution T C intron_variant MELA-AU 18 30331713 30331713 single base substitution A T intron_variant MELA-AU 18 30331876 30331876 single base substitution G A intron_variant MELA-AU 18 30331914 30331914 single base substitution A G intron_variant MELA-AU 18 30332164 30332164 single base substitution C T intron_variant MELA-AU 18 30332298 30332298 single base substitution G A intron_variant MELA-AU 18 30332738 30332738 single base substitution G A intron_variant MELA-AU 18 30332740 30332740 single base substitution A T intron_variant MELA-AU 18 30333206 30333206 single base substitution G A intron_variant MELA-AU 18 30333269 30333269 single base substitution C T intron_variant MELA-AU 18 30333391 30333392 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 30333622 30333622 single base substitution G A intron_variant MELA-AU 18 30333744 30333744 single base substitution C T intron_variant MELA-AU 18 30333902 30333902 single base substitution C T intron_variant MELA-AU 18 30334338 30334338 single base substitution G A intron_variant MELA-AU 18 30334420 30334421 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 30334446 30334446 single base substitution A G intron_variant MELA-AU 18 30334481 30334481 single base substitution G C intron_variant MELA-AU 18 30334520 30334520 single base substitution T C intron_variant MELA-AU 18 30334530 30334530 single base substitution C T intron_variant MELA-AU 18 30334547 30334547 single base substitution G A intron_variant MELA-AU 18 30334548 30334548 single base substitution G A intron_variant MELA-AU 18 30334838 30334838 single base substitution G A intron_variant MELA-AU 18 30335486 30335486 single base substitution G A intron_variant MELA-AU 18 30335516 30335516 single base substitution C T intron_variant MELA-AU 18 30335529 30335529 single base substitution G A intron_variant MELA-AU 18 30335540 30335540 single base substitution C T intron_variant MELA-AU 18 30335720 30335720 single base substitution C G intron_variant MELA-AU 18 30336670 30336670 single base substitution C T intron_variant MELA-AU 18 30337137 30337137 single base substitution T A intron_variant MELA-AU 18 30337154 30337154 single base substitution C T intron_variant MELA-AU 18 30337691 30337691 single base substitution C T intron_variant MELA-AU 18 30338116 30338116 single base substitution C T intron_variant MELA-AU 18 30338464 30338464 single base substitution G A intron_variant MELA-AU 18 30338779 30338779 single base substitution G A intron_variant MELA-AU 18 30339517 30339517 single base substitution G A intron_variant MELA-AU 18 30339792 30339792 single base substitution C T intron_variant MELA-AU 18 30340324 30340324 single base substitution C T intron_variant MELA-AU 18 30340328 30340328 single base substitution T C intron_variant MELA-AU 18 30340330 30340330 single base substitution C T intron_variant MELA-AU 18 30340527 30340527 single base substitution T C intron_variant MELA-AU 18 30340558 30340558 single base substitution G A intron_variant MELA-AU 18 30340642 30340642 single base substitution G A intron_variant MELA-AU 18 30340674 30340674 single base substitution G A intron_variant MELA-AU 18 30340777 30340778 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 30340827 30340827 single base substitution G A intron_variant MELA-AU 18 30341180 30341180 single base substitution G A intron_variant MELA-AU 18 30342139 30342139 single base substitution G A intron_variant MELA-AU 18 30342147 30342147 single base substitution G A intron_variant MELA-AU 18 30342441 30342441 single base substitution C T intron_variant MELA-AU 18 30342566 30342566 single base substitution G T intron_variant MELA-AU 18 30342727 30342727 single base substitution G A intron_variant MELA-AU 18 30343323 30343323 single base substitution G A intron_variant MELA-AU 18 30343437 30343437 single base substitution C T intron_variant MELA-AU 18 30344110 30344110 single base substitution G A intron_variant MELA-AU 18 30344830 30344830 single base substitution G A intron_variant MELA-AU 18 30345575 30345575 single base substitution G A downstream_gene_variant MELA-AU 18 30345575 30345575 single base substitution G A intron_variant MELA-AU 18 30345847 30345847 single base substitution C T downstream_gene_variant MELA-AU 18 30345847 30345847 single base substitution C T intron_variant MELA-AU 18 30345899 30345899 single base substitution C T downstream_gene_variant MELA-AU 18 30345899 30345899 single base substitution C T intron_variant MELA-AU 18 30346121 30346121 single base substitution C T downstream_gene_variant MELA-AU 18 30346121 30346121 single base substitution C T intron_variant MELA-AU 18 30346447 30346447 single base substitution C T downstream_gene_variant MELA-AU 18 30346447 30346447 single base substitution C T intron_variant MELA-AU 18 30346571 30346571 single base substitution G A downstream_gene_variant MELA-AU 18 30346571 30346571 single base substitution G A intron_variant MELA-AU 18 30346578 30346578 single base substitution T C downstream_gene_variant MELA-AU 18 30346578 30346578 single base substitution T C intron_variant MELA-AU 18 30346791 30346791 single base substitution C T downstream_gene_variant MELA-AU 18 30346791 30346791 single base substitution C T intron_variant MELA-AU 18 30346908 30346908 single base substitution C T downstream_gene_variant MELA-AU 18 30346908 30346908 single base substitution C T intron_variant MELA-AU 18 30347532 30347532 single base substitution G A downstream_gene_variant MELA-AU 18 30347532 30347532 single base substitution G A intron_variant MELA-AU 18 30348119 30348119 single base substitution G A downstream_gene_variant MELA-AU 18 30348119 30348119 single base substitution G A intron_variant MELA-AU 18 30348327 30348327 single base substitution T C downstream_gene_variant MELA-AU 18 30348327 30348327 single base substitution T C intron_variant MELA-AU 18 30348456 30348456 single base substitution G A downstream_gene_variant MELA-AU 18 30348456 30348456 single base substitution G A intron_variant MELA-AU 18 30349001 30349001 single base substitution G A downstream_gene_variant MELA-AU 18 30349001 30349001 single base substitution G A intron_variant MELA-AU 18 30349346 30349346 single base substitution C T downstream_gene_variant MELA-AU 18 30349346 30349346 single base substitution C T intron_variant MELA-AU 18 30349817 30349817 single base substitution C T downstream_gene_variant MELA-AU 18 30349817 30349817 single base substitution C T synonymous_variant L246L 738G>A MELA-AU 18 30349930 30349930 single base substitution G A downstream_gene_variant MELA-AU 18 30349930 30349930 single base substitution G A synonymous_variant L209L 625C>T MELA-AU 18 30350258 30350258 single base substitution C G synonymous_variant P126P 378G>C MELA-AU 18 30350258 30350258 single base substitution C G synonymous_variant P99P 297G>C MELA-AU 18 30350528 30350528 single base substitution G T synonymous_variant S36S 108C>A MELA-AU 18 30350528 30350528 single base substitution G T synonymous_variant S9S 27C>A MELA-AU 18 30350795 30350795 single base substitution C T intron_variant MELA-AU 18 30351086 30351086 single base substitution G A intron_variant MELA-AU 18 30351243 30351243 single base substitution G A intron_variant MELA-AU 18 30352171 30352171 single base substitution C T intron_variant MELA-AU 18 30352171 30352171 single base substitution C T upstream_gene_variant MELA-AU 18 30352412 30352412 single base substitution C T intron_variant MELA-AU 18 30352412 30352412 single base substitution C T upstream_gene_variant MELA-AU 18 30353469 30353469 deletion of <=200bp T - upstream_gene_variant MELA-AU 18 30354034 30354034 single base substitution G C upstream_gene_variant MELA-AU 18 30354238 30354238 single base substitution T C upstream_gene_variant MELA-AU 18 30354372 30354372 single base substitution C T upstream_gene_variant MELA-AU 18 30354511 30354511 single base substitution A G upstream_gene_variant MELA-AU 18 30354665 30354665 single base substitution C T upstream_gene_variant MELA-AU 18 30354736 30354736 single base substitution T C upstream_gene_variant MELA-AU 18 30354875 30354875 single base substitution C T upstream_gene_variant MELA-AU 18 30355194 30355194 single base substitution G A upstream_gene_variant MELA-AU 18 30355366 30355366 single base substitution G A upstream_gene_variant MELA-AU 18 30355470 30355470 single base substitution G A upstream_gene_variant MELA-AU 18 30356103 30356103 single base substitution G A upstream_gene_variant MELA-AU 18 30356561 30356561 single base substitution G A upstream_gene_variant MELA-AU 18 30356580 30356580 single base substitution A G upstream_gene_variant MELA-AU 18 30356653 30356654 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 18 30357136 30357136 single base substitution A C upstream_gene_variant MELA-AU 18 30357245 30357245 single base substitution G A upstream_gene_variant MELA-AU 18 30357267 30357267 single base substitution C T upstream_gene_variant MELA-AU 18 30357271 30357271 single base substitution T C upstream_gene_variant MELA-AU 18 30357491 30357491 single base substitution T A upstream_gene_variant MELA-AU 18 30357610 30357610 single base substitution T G upstream_gene_variant MELA-AU 18 30357695 30357695 single base substitution G A upstream_gene_variant ORCA-IN 18 30306033 30306033 single base substitution C T intron_variant ORCA-IN 18 30327068 30327068 single base substitution C G intron_variant ORCA-IN 18 30349843 30349843 single base substitution G T downstream_gene_variant ORCA-IN 18 30349843 30349843 single base substitution G T missense_variant L238I 712C>A ORCA-IN 18 30357163 30357163 single base substitution T C upstream_gene_variant OV-AU 18 30251338 30251338 single base substitution T A downstream_gene_variant OV-AU 18 30263880 30263880 single base substitution T A intron_variant OV-AU 18 30267172 30267172 single base substitution C G missense_variant S395T 1184G>C OV-AU 18 30269075 30269075 single base substitution A G intron_variant OV-AU 18 30271274 30271274 single base substitution C G intron_variant OV-AU 18 30272676 30272676 single base substitution T C intron_variant OV-AU 18 30272906 30272906 single base substitution G C intron_variant OV-AU 18 30274992 30274992 single base substitution C A intron_variant OV-AU 18 30275350 30275350 single base substitution A G intron_variant OV-AU 18 30275969 30275969 single base substitution C T intron_variant OV-AU 18 30278653 30278653 single base substitution G C intron_variant OV-AU 18 30280103 30280103 single base substitution C G intron_variant OV-AU 18 30285600 30285600 single base substitution C A intron_variant OV-AU 18 30299257 30299257 single base substitution C G intron_variant OV-AU 18 30302358 30302358 single base substitution A T intron_variant OV-AU 18 30309010 30309010 single base substitution C G downstream_gene_variant OV-AU 18 30309010 30309010 single base substitution C G intron_variant OV-AU 18 30310999 30310999 single base substitution G A downstream_gene_variant OV-AU 18 30310999 30310999 single base substitution G A intron_variant OV-AU 18 30311138 30311138 single base substitution G C downstream_gene_variant OV-AU 18 30311138 30311138 single base substitution G C intron_variant OV-AU 18 30318082 30318082 single base substitution C T intron_variant OV-AU 18 30320811 30320811 single base substitution T G intron_variant OV-AU 18 30343069 30343069 single base substitution A G intron_variant OV-AU 18 30346165 30346165 single base substitution A C downstream_gene_variant OV-AU 18 30346165 30346165 single base substitution A C intron_variant OV-AU 18 30350693 30350693 single base substitution G A intron_variant OV-AU 18 30352078 30352078 single base substitution G C 5_prime_UTR_variant OV-AU 18 30352078 30352078 single base substitution G C intron_variant PACA-AU 18 30252543 30252543 deletion of <=200bp C - downstream_gene_variant PACA-AU 18 30254964 30254964 single base substitution T G intron_variant PACA-AU 18 30255222 30255222 single base substitution A G intron_variant PACA-AU 18 30257663 30257663 single base substitution C T intron_variant PACA-AU 18 30262196 30262196 single base substitution T G intron_variant PACA-AU 18 30268073 30268073 single base substitution T G intron_variant PACA-AU 18 30276532 30276532 single base substitution A C intron_variant PACA-AU 18 30276554 30276554 single base substitution C G intron_variant PACA-AU 18 30293375 30293375 single base substitution C A intron_variant PACA-AU 18 30297011 30297011 single base substitution G T intron_variant PACA-AU 18 30310514 30310514 single base substitution C G downstream_gene_variant PACA-AU 18 30310514 30310514 single base substitution C G intron_variant PACA-AU 18 30314343 30314343 single base substitution G T intron_variant PACA-AU 18 30316837 30316837 single base substitution C A intron_variant PACA-AU 18 30317703 30317703 single base substitution C T intron_variant PACA-AU 18 30324854 30324854 single base substitution C G intron_variant PACA-AU 18 30331812 30331812 single base substitution C G intron_variant PACA-AU 18 30338046 30338047 deletion of <=200bp TC - intron_variant PACA-AU 18 30340336 30340336 single base substitution C T intron_variant PACA-AU 18 30342990 30342993 deletion of <=200bp AAAC - intron_variant PACA-AU 18 30345869 30345869 single base substitution A T downstream_gene_variant PACA-AU 18 30345869 30345869 single base substitution A T intron_variant PACA-AU 18 30351503 30351503 single base substitution C T intron_variant PACA-AU 18 30353948 30353948 single base substitution A G upstream_gene_variant PACA-AU 18 30355049 30355049 single base substitution G A upstream_gene_variant PACA-AU 18 30355963 30355963 single base substitution T C upstream_gene_variant PACA-CA 18 30248358 30248358 single base substitution C T downstream_gene_variant PACA-CA 18 30248602 30248602 single base substitution G A downstream_gene_variant PACA-CA 18 30250250 30250250 single base substitution C A downstream_gene_variant PACA-CA 18 30262139 30262139 single base substitution A G intron_variant PACA-CA 18 30262374 30262374 single base substitution C T intron_variant PACA-CA 18 30266227 30266227 single base substitution C T intron_variant PACA-CA 18 30270360 30270360 single base substitution G A intron_variant PACA-CA 18 30270831 30270831 deletion of <=200bp G - intron_variant PACA-CA 18 30271602 30271602 single base substitution A T intron_variant PACA-CA 18 30272119 30272119 single base substitution G T intron_variant PACA-CA 18 30272629 30272629 single base substitution T C intron_variant PACA-CA 18 30277512 30277538 deletion of <=200bp ATCTTATAAATAATGAAAAACGGTATT - intron_variant PACA-CA 18 30277548 30277548 insertion of <=200bp - A intron_variant PACA-CA 18 30280656 30280656 single base substitution A G intron_variant PACA-CA 18 30285113 30285113 single base substitution A T intron_variant PACA-CA 18 30285312 30285312 single base substitution A G intron_variant PACA-CA 18 30289518 30289518 single base substitution C A intron_variant PACA-CA 18 30290917 30290917 single base substitution C A intron_variant PACA-CA 18 30292652 30292652 deletion of <=200bp A - intron_variant PACA-CA 18 30293336 30293336 single base substitution T C intron_variant PACA-CA 18 30296601 30296601 single base substitution C G intron_variant PACA-CA 18 30297661 30297661 single base substitution C G intron_variant PACA-CA 18 30299446 30299446 single base substitution A G intron_variant PACA-CA 18 30305547 30305547 single base substitution G A intron_variant PACA-CA 18 30307445 30307445 single base substitution T C intron_variant PACA-CA 18 30311619 30311633 deletion of <=200bp GTTTTTTTAAATGAG - downstream_gene_variant PACA-CA 18 30311619 30311633 deletion of <=200bp GTTTTTTTAAATGAG - intron_variant PACA-CA 18 30314186 30314186 single base substitution T C intron_variant PACA-CA 18 30314186 30314186 single base substitution T C synonymous_variant S364S 1092A>G PACA-CA 18 30314268 30314268 single base substitution T G intron_variant PACA-CA 18 30314866 30314866 single base substitution C T intron_variant PACA-CA 18 30315015 30315015 single base substitution C T intron_variant PACA-CA 18 30316636 30316636 single base substitution T C intron_variant PACA-CA 18 30318354 30318354 single base substitution C T intron_variant PACA-CA 18 30323788 30323788 single base substitution C A intron_variant PACA-CA 18 30324307 30324307 single base substitution G A intron_variant PACA-CA 18 30328812 30328812 single base substitution G A intron_variant PACA-CA 18 30331447 30331447 single base substitution T A intron_variant PACA-CA 18 30331501 30331501 single base substitution C G intron_variant PACA-CA 18 30333151 30333151 single base substitution C G intron_variant PACA-CA 18 30333541 30333541 deletion of <=200bp A - intron_variant PACA-CA 18 30333588 30333588 single base substitution C A intron_variant PACA-CA 18 30333969 30333969 single base substitution G A intron_variant PACA-CA 18 30337954 30337954 single base substitution G A intron_variant PACA-CA 18 30338046 30338047 deletion of <=200bp TC - intron_variant PACA-CA 18 30340379 30340379 single base substitution C A intron_variant PACA-CA 18 30341209 30341209 single base substitution A T intron_variant PACA-CA 18 30342701 30342701 single base substitution A G intron_variant PACA-CA 18 30346374 30346374 single base substitution T C downstream_gene_variant PACA-CA 18 30346374 30346374 single base substitution T C intron_variant PACA-CA 18 30347235 30347235 single base substitution T A downstream_gene_variant PACA-CA 18 30347235 30347235 single base substitution T A intron_variant PACA-CA 18 30352216 30352216 single base substitution G T intron_variant PACA-CA 18 30352216 30352216 single base substitution G T upstream_gene_variant PACA-CA 18 30353197 30353198 deletion of <=200bp CT - upstream_gene_variant PACA-CA 18 30353394 30353394 deletion of <=200bp C - upstream_gene_variant PACA-CA 18 30354571 30354571 single base substitution G A upstream_gene_variant PACA-CA 18 30356783 30356783 single base substitution C T upstream_gene_variant PAEN-AU 18 30301878 30301878 single base substitution G C intron_variant PAEN-AU 18 30351882 30351882 single base substitution A C intron_variant PAEN-IT 18 30301094 30301094 single base substitution T C intron_variant PAEN-IT 18 30310632 30310632 single base substitution C A downstream_gene_variant PAEN-IT 18 30310632 30310632 single base substitution C A intron_variant PBCA-DE 18 30248689 30248689 single base substitution G A downstream_gene_variant PBCA-DE 18 30251647 30251647 insertion of <=200bp - A downstream_gene_variant PBCA-DE 18 30252468 30252468 single base substitution T G downstream_gene_variant PBCA-DE 18 30262374 30262374 single base substitution C T intron_variant PBCA-DE 18 30280650 30280650 single base substitution C A intron_variant PBCA-DE 18 30294527 30294527 single base substitution C G intron_variant PBCA-DE 18 30296298 30296298 deletion of <=200bp A - intron_variant PBCA-DE 18 30298724 30298724 single base substitution T C intron_variant PBCA-DE 18 30298919 30298919 deletion of <=200bp T - intron_variant PBCA-DE 18 30300759 30300759 single base substitution C A intron_variant PBCA-DE 18 30303913 30303913 single base substitution G T intron_variant PBCA-DE 18 30310064 30310064 single base substitution C A downstream_gene_variant PBCA-DE 18 30310064 30310064 single base substitution C A intron_variant PBCA-DE 18 30314848 30314849 deletion of <=200bp TG - intron_variant PBCA-DE 18 30315636 30315636 single base substitution A G intron_variant PBCA-DE 18 30319606 30319607 deletion of <=200bp CA - intron_variant PBCA-DE 18 30324608 30324608 insertion of <=200bp - A intron_variant PBCA-DE 18 30324776 30324776 single base substitution G C intron_variant PBCA-DE 18 30336907 30336907 single base substitution A T intron_variant PBCA-DE 18 30342197 30342197 insertion of <=200bp - T intron_variant PBCA-DE 18 30348177 30348177 single base substitution C T downstream_gene_variant PBCA-DE 18 30348177 30348177 single base substitution C T intron_variant PRAD-CA 18 30271686 30271686 single base substitution T C intron_variant PRAD-CA 18 30273376 30273376 single base substitution C G intron_variant PRAD-CA 18 30273378 30273378 single base substitution G C intron_variant PRAD-CA 18 30273388 30273388 single base substitution G C intron_variant PRAD-CA 18 30274596 30274596 single base substitution C T intron_variant PRAD-CA 18 30277549 30277549 single base substitution A T intron_variant PRAD-CA 18 30277875 30277875 single base substitution T G intron_variant PRAD-CA 18 30304106 30304106 single base substitution G A intron_variant PRAD-CA 18 30306176 30306176 single base substitution G A intron_variant PRAD-CA 18 30326167 30326167 single base substitution A T intron_variant PRAD-CA 18 30352114 30352114 single base substitution C G 5_prime_UTR_variant PRAD-CA 18 30352114 30352114 single base substitution C G intron_variant PRAD-UK 18 30251104 30251104 single base substitution T G downstream_gene_variant PRAD-UK 18 30253424 30253424 single base substitution C A 3_prime_UTR_variant PRAD-UK 18 30262451 30262451 single base substitution A G intron_variant PRAD-UK 18 30272444 30272444 single base substitution T A intron_variant PRAD-UK 18 30274540 30274540 single base substitution C T intron_variant PRAD-UK 18 30278043 30278043 single base substitution G C intron_variant PRAD-UK 18 30279573 30279573 single base substitution C A intron_variant PRAD-UK 18 30282600 30282600 single base substitution G T intron_variant PRAD-UK 18 30283314 30283314 single base substitution A C intron_variant PRAD-UK 18 30311176 30311176 single base substitution A C downstream_gene_variant PRAD-UK 18 30311176 30311176 single base substitution A C intron_variant PRAD-UK 18 30317527 30317527 single base substitution G A intron_variant PRAD-UK 18 30321810 30321810 deletion of <=200bp A - intron_variant PRAD-UK 18 30322866 30322866 single base substitution G A intron_variant PRAD-UK 18 30331324 30331324 deletion of <=200bp T - intron_variant PRAD-UK 18 30333920 30333920 single base substitution T C intron_variant PRAD-UK 18 30335267 30335267 single base substitution G A intron_variant PRAD-UK 18 30337260 30337260 single base substitution A G intron_variant PRAD-UK 18 30346092 30346092 single base substitution A T downstream_gene_variant PRAD-UK 18 30346092 30346092 single base substitution A T intron_variant PRAD-UK 18 30347929 30347943 multiple base substitution (>=2bp and <=200bp) GAAGTATACTTGTAG GTCATTTAAAT downstream_gene_variant PRAD-UK 18 30347929 30347943 multiple base substitution (>=2bp and <=200bp) GAAGTATACTTGTAG GTCATTTAAAT intron_variant PRAD-UK 18 30351023 30351023 single base substitution G T intron_variant PRAD-UK 18 30356427 30356427 single base substitution G A upstream_gene_variant PRAD-US 18 30350295 30350295 single base substitution G T missense_variant P114Q 341C>A PRAD-US 18 30350295 30350295 single base substitution G T missense_variant P87Q 260C>A READ-US 18 30322013 30322013 single base substitution C A splice_acceptor_variant RECA-EU 18 30275019 30275019 single base substitution A T intron_variant RECA-EU 18 30298213 30298213 single base substitution A T intron_variant RECA-EU 18 30309280 30309280 single base substitution T C downstream_gene_variant RECA-EU 18 30309280 30309280 single base substitution T C intron_variant RECA-EU 18 30319051 30319051 single base substitution A T intron_variant RECA-EU 18 30319853 30319853 single base substitution G C intron_variant RECA-EU 18 30332205 30332205 single base substitution G T intron_variant RECA-EU 18 30336542 30336542 single base substitution G T intron_variant RECA-EU 18 30343143 30343143 single base substitution G T intron_variant RECA-EU 18 30343449 30343449 single base substitution G A intron_variant RECA-EU 18 30346746 30346746 single base substitution T G downstream_gene_variant RECA-EU 18 30346746 30346746 single base substitution T G intron_variant RECA-EU 18 30348232 30348232 single base substitution A T downstream_gene_variant RECA-EU 18 30348232 30348232 single base substitution A T intron_variant SKCA-BR 18 30249597 30249597 single base substitution T C downstream_gene_variant SKCA-BR 18 30250054 30250054 single base substitution T G downstream_gene_variant SKCA-BR 18 30252961 30252961 insertion of <=200bp - AT 3_prime_UTR_variant SKCA-BR 18 30253759 30253759 single base substitution A G 3_prime_UTR_variant SKCA-BR 18 30255688 30255688 single base substitution G A intron_variant SKCA-BR 18 30257428 30257428 single base substitution C T intron_variant SKCA-BR 18 30258556 30258556 single base substitution G A intron_variant SKCA-BR 18 30258927 30258927 single base substitution T A intron_variant SKCA-BR 18 30261193 30261193 single base substitution C T intron_variant SKCA-BR 18 30264675 30264675 single base substitution C T intron_variant SKCA-BR 18 30264698 30264698 single base substitution A C intron_variant SKCA-BR 18 30265384 30265384 single base substitution G A intron_variant SKCA-BR 18 30267081 30267081 single base substitution G A intron_variant SKCA-BR 18 30267338 30267338 single base substitution G A intron_variant SKCA-BR 18 30268459 30268459 single base substitution G A intron_variant SKCA-BR 18 30270379 30270379 single base substitution A G intron_variant SKCA-BR 18 30270613 30270613 single base substitution A G intron_variant SKCA-BR 18 30270670 30270670 single base substitution C A intron_variant SKCA-BR 18 30271165 30271165 single base substitution G A intron_variant SKCA-BR 18 30273378 30273378 single base substitution G C intron_variant SKCA-BR 18 30273931 30273931 insertion of <=200bp - TTTTTG intron_variant SKCA-BR 18 30274342 30274342 single base substitution G A intron_variant SKCA-BR 18 30274830 30274830 single base substitution G A intron_variant SKCA-BR 18 30275526 30275526 insertion of <=200bp - GA intron_variant SKCA-BR 18 30279616 30279616 single base substitution C T intron_variant SKCA-BR 18 30282319 30282319 single base substitution A T intron_variant SKCA-BR 18 30283714 30283714 single base substitution C T intron_variant SKCA-BR 18 30284018 30284018 single base substitution T C intron_variant SKCA-BR 18 30284723 30284723 single base substitution C T intron_variant SKCA-BR 18 30285640 30285640 single base substitution C T intron_variant SKCA-BR 18 30287236 30287236 single base substitution C T intron_variant SKCA-BR 18 30287632 30287632 single base substitution C T intron_variant SKCA-BR 18 30288718 30288718 single base substitution C T intron_variant SKCA-BR 18 30289010 30289010 single base substitution C T intron_variant SKCA-BR 18 30290458 30290458 single base substitution G A intron_variant SKCA-BR 18 30290543 30290543 single base substitution A C intron_variant SKCA-BR 18 30292246 30292246 single base substitution C T intron_variant SKCA-BR 18 30293267 30293267 single base substitution G A intron_variant SKCA-BR 18 30294601 30294601 single base substitution A G intron_variant SKCA-BR 18 30294828 30294828 single base substitution C G intron_variant SKCA-BR 18 30294849 30294849 insertion of <=200bp - CT intron_variant SKCA-BR 18 30295227 30295227 single base substitution C T intron_variant SKCA-BR 18 30295663 30295663 single base substitution G A intron_variant SKCA-BR 18 30296481 30296481 single base substitution G A intron_variant SKCA-BR 18 30298678 30298678 single base substitution C T intron_variant SKCA-BR 18 30299627 30299627 single base substitution G A intron_variant SKCA-BR 18 30300784 30300784 single base substitution G A intron_variant SKCA-BR 18 30300942 30300942 single base substitution G A intron_variant SKCA-BR 18 30305301 30305301 single base substitution G A intron_variant SKCA-BR 18 30309137 30309137 single base substitution C T downstream_gene_variant SKCA-BR 18 30309137 30309137 single base substitution C T intron_variant SKCA-BR 18 30309155 30309155 single base substitution C T downstream_gene_variant SKCA-BR 18 30309155 30309155 single base substitution C T intron_variant SKCA-BR 18 30309287 30309287 single base substitution A G downstream_gene_variant SKCA-BR 18 30309287 30309287 single base substitution A G intron_variant SKCA-BR 18 30311246 30311246 single base substitution T C downstream_gene_variant SKCA-BR 18 30311246 30311246 single base substitution T C intron_variant SKCA-BR 18 30311972 30311972 single base substitution T G downstream_gene_variant SKCA-BR 18 30311972 30311972 single base substitution T G intron_variant SKCA-BR 18 30313868 30313868 single base substitution C T 3_prime_UTR_variant SKCA-BR 18 30313868 30313868 single base substitution C T intron_variant SKCA-BR 18 30316458 30316458 single base substitution A C intron_variant SKCA-BR 18 30318109 30318109 single base substitution G A intron_variant SKCA-BR 18 30318220 30318255 deletion of <=200bp CAGCAAGTGTTCTGTTTAATCTTTGCACAGAGGATT - intron_variant SKCA-BR 18 30320271 30320271 single base substitution C T intron_variant SKCA-BR 18 30321921 30321921 single base substitution C T missense_variant D347N 1039G>A SKCA-BR 18 30322550 30322550 single base substitution G A intron_variant SKCA-BR 18 30323958 30323958 single base substitution A C intron_variant SKCA-BR 18 30328374 30328374 single base substitution C T intron_variant SKCA-BR 18 30328499 30328499 single base substitution A T intron_variant SKCA-BR 18 30329050 30329050 single base substitution A C intron_variant SKCA-BR 18 30331684 30331684 single base substitution A G intron_variant SKCA-BR 18 30331790 30331790 single base substitution G A intron_variant SKCA-BR 18 30332918 30332922 deletion of <=200bp TTGTG - intron_variant SKCA-BR 18 30333350 30333350 single base substitution A C intron_variant SKCA-BR 18 30334611 30334611 single base substitution C T intron_variant SKCA-BR 18 30334956 30334956 single base substitution T G intron_variant SKCA-BR 18 30335174 30335174 single base substitution C T intron_variant SKCA-BR 18 30337670 30337670 single base substitution G A intron_variant SKCA-BR 18 30338743 30338743 single base substitution G A intron_variant SKCA-BR 18 30340945 30340945 single base substitution G A intron_variant SKCA-BR 18 30341356 30341356 insertion of <=200bp - CTTTT intron_variant SKCA-BR 18 30343430 30343430 single base substitution T G intron_variant SKCA-BR 18 30343436 30343436 single base substitution C T intron_variant SKCA-BR 18 30344302 30344302 single base substitution G A intron_variant SKCA-BR 18 30348041 30348041 single base substitution G A downstream_gene_variant SKCA-BR 18 30348041 30348041 single base substitution G A intron_variant SKCA-BR 18 30348804 30348804 single base substitution T G downstream_gene_variant SKCA-BR 18 30348804 30348804 single base substitution T G intron_variant SKCA-BR 18 30348857 30348857 single base substitution C T downstream_gene_variant SKCA-BR 18 30348857 30348857 single base substitution C T intron_variant SKCA-BR 18 30349212 30349212 single base substitution G A downstream_gene_variant SKCA-BR 18 30349212 30349212 single base substitution G A intron_variant SKCA-BR 18 30349576 30349576 single base substitution C T downstream_gene_variant SKCA-BR 18 30349576 30349576 single base substitution C T intron_variant SKCA-BR 18 30354459 30354459 single base substitution C T upstream_gene_variant SKCA-BR 18 30356457 30356457 insertion of <=200bp - GT upstream_gene_variant SKCA-BR 18 30356474 30356474 single base substitution A T upstream_gene_variant SKCM-US 18 30254666 30254666 single base substitution G A missense_variant A614V 1841C>T SKCM-US 18 30254700 30254700 single base substitution C T missense_variant E603K 1807G>A SKCM-US 18 30254720 30254720 single base substitution T A missense_variant K596I 1787A>T SKCM-US 18 30257198 30257198 single base substitution C T missense_variant G562S 1684G>A SKCM-US 18 30257204 30257204 single base substitution G A stop_gained R560* 1678C>T SKCM-US 18 30260132 30260132 single base substitution C T missense_variant G530S 1588G>A SKCM-US 18 30260234 30260234 single base substitution C T missense_variant D496N 1486G>A SKCM-US 18 30260276 30260276 single base substitution C T missense_variant G482R 1444G>A SKCM-US 18 30260388 30260388 single base substitution C T synonymous_variant G471G 1413G>A SKCM-US 18 30260436 30260436 single base substitution G A synonymous_variant S455S 1365C>T SKCM-US 18 30260457 30260457 single base substitution C T synonymous_variant T448T 1344G>A SKCM-US 18 30260501 30260501 single base substitution C T missense_variant E434K 1300G>A SKCM-US 18 30275462 30275462 single base substitution A G missense_variant F375L 1123T>C SKCM-US 18 30321904 30321904 single base substitution C T stop_gained W352* 1056G>A SKCM-US 18 30322008 30322008 single base substitution G A missense_variant R318C 952C>T SKCM-US 18 30349751 30349751 single base substitution G A downstream_gene_variant SKCM-US 18 30349751 30349751 single base substitution G A synonymous_variant L268L 804C>T SKCM-US 18 30349830 30349830 single base substitution G A downstream_gene_variant SKCM-US 18 30349830 30349830 single base substitution G A missense_variant S242F 725C>T SKCM-US 18 30350066 30350066 single base substitution G A synonymous_variant I163I 489C>T SKCM-US 18 30350066 30350066 single base substitution G A synonymous_variant I190I 570C>T SKCM-US 18 30350077 30350077 single base substitution C T missense_variant V160I 478G>A SKCM-US 18 30350077 30350077 single base substitution C T missense_variant V187I 559G>A SKCM-US 18 30350137 30350161 deletion of <=200bp CGAGCACCAGGCGCAGCCCGATGGA - frameshift_variant SIGLRLVLE132 SKCM-US 18 30350137 30350161 deletion of <=200bp CGAGCACCAGGCGCAGCCCGATGGA - frameshift_variant SIGLRLVLE159 SKCM-US 18 30350423 30350423 single base substitution G A synonymous_variant F44F 132C>T SKCM-US 18 30350423 30350423 single base substitution G A synonymous_variant F71F 213C>T SKCM-US 18 30350440 30350440 single base substitution C T missense_variant A39T 115G>A SKCM-US 18 30350440 30350440 single base substitution C T missense_variant A66T 196G>A SKCM-US 18 30350522 30350522 single base substitution G A synonymous_variant F11F 33C>T SKCM-US 18 30350522 30350522 single base substitution G A synonymous_variant F38F 114C>T STAD-US 18 30257165 30257165 single base substitution A G missense_variant Y573H 1717T>C STAD-US 18 30260165 30260165 single base substitution G A missense_variant R519C 1555C>T STAD-US 18 30260195 30260195 single base substitution C T missense_variant A509T 1525G>A STAD-US 18 30260415 30260415 single base substitution C T synonymous_variant A462A 1386G>A STAD-US 18 30260437 30260437 single base substitution G A missense_variant S455F 1364C>T STAD-US 18 30260447 30260447 single base substitution G A missense_variant R452C 1354C>T STAD-US 18 30275442 30275442 single base substitution G A synonymous_variant D381D 1143C>T STAD-US 18 30275464 30275466 deletion of <=200bp AAG - disruptive_inframe_deletion FL373L STAD-US 18 30321990 30321990 single base substitution G A synonymous_variant L324L 970C>T STAD-US 18 30349740 30349740 single base substitution G A downstream_gene_variant STAD-US 18 30349740 30349740 single base substitution G A missense_variant P272L 815C>T STAD-US 18 30349862 30349862 deletion of <=200bp G - downstream_gene_variant STAD-US 18 30349862 30349862 deletion of <=200bp G - frameshift_variant P231 STAD-US 18 30349887 30349887 single base substitution G A downstream_gene_variant STAD-US 18 30349887 30349887 single base substitution G A missense_variant A223V 668C>T STAD-US 18 30349891 30349891 single base substitution G A downstream_gene_variant STAD-US 18 30349891 30349891 single base substitution G A missense_variant R222C 664C>T STAD-US 18 30349901 30349901 single base substitution G A downstream_gene_variant STAD-US 18 30349901 30349901 single base substitution G A synonymous_variant F218F 654C>T STAD-US 18 30350328 30350328 single base substitution T C missense_variant D103G 308A>G STAD-US 18 30350328 30350328 single base substitution T C missense_variant D76G 227A>G STAD-US 18 30350355 30350355 deletion of <=200bp G - frameshift_variant P67 STAD-US 18 30350355 30350355 deletion of <=200bp G - frameshift_variant P94 STAD-US 18 30350377 30350377 single base substitution A T missense_variant S60T 178T>A STAD-US 18 30350377 30350377 single base substitution A T missense_variant S87T 259T>A STAD-US 18 30350456 30350456 single base substitution G A synonymous_variant C33C 99C>T STAD-US 18 30350456 30350456 single base substitution G A synonymous_variant C60C 180C>T STAD-US 18 30350466 30350466 single base substitution T A missense_variant Q30L 89A>T STAD-US 18 30350466 30350466 single base substitution T A missense_variant Q57L 170A>T THCA-SA 18 30349691 30349691 single base substitution C T downstream_gene_variant THCA-SA 18 30349691 30349691 single base substitution C T synonymous_variant P288P 864G>A THCA-US 18 30349946 30349946 single base substitution C T downstream_gene_variant THCA-US 18 30349946 30349946 single base substitution C T synonymous_variant K203K 609G>A THCA-US 18 30349967 30349967 single base substitution G A synonymous_variant H196H 588C>T THCA-US 18 30349967 30349967 single base substitution G A synonymous_variant H223H 669C>T THCA-US 18 30350455 30350455 single base substitution C A missense_variant D34Y 100G>T THCA-US 18 30350455 30350455 single base substitution C A missense_variant D61Y 181G>T UCEC-US 18 30257159 30257159 single base substitution C T missense_variant V575M 1723G>A UCEC-US 18 30257271 30257271 single base substitution C T missense_variant M537I 1611G>A UCEC-US 18 30260153 30260153 single base substitution T G missense_variant I523L 1567A>C UCEC-US 18 30260208 30260208 single base substitution C A missense_variant M504I 1512G>T UCEC-US 18 30260221 30260221 single base substitution C T missense_variant R500Q 1499G>A UCEC-US 18 30260506 30260506 single base substitution C A missense_variant R432M 1295G>T UCEC-US 18 30267157 30267157 single base substitution C T missense_variant R400Q 1199G>A UCEC-US 18 30275470 30275470 single base substitution T C missense_variant N372S 1115A>G UCEC-US 18 30275488 30275488 single base substitution C T missense_variant C366Y 1097G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-A7-A425-01 COSM3821343 c.1487A>T p.D496V Substitution - Missense 18:32680270-32680270 - TCGA-D7-6522-01 COSM4071852 c.815C>T p.P272L Substitution - Missense 18:32769777-32769777 - pfg127T COSM1388442 c.693delC p.V232fs*30 Deletion - Frameshift 18:32769899-32769899 - PD9696a COSM5782627 c.1160-5T>C p.? Unknown 18:32687238-32687238 - DLBCL813 COSM1581130 c.589G>A p.G197S Substitution - Missense 18:32770003-32770003 - PT27 COSM3525341 c.1300G>A p.E434K Substitution - Missense 18:32680538-32680538 - AOCS-126-1-5 COSM438058 c.1184G>C p.S395T Substitution - Missense 18:32687209-32687209 - PTC-6C COSM3756129 c.864G>A p.P288P Substitution - coding silent 18:32769728-32769728 - TCGA-A8-A09I-01 COSM438059 c.1038C>T p.D346D Substitution - coding silent 18:32741959-32741959 - I2L-P18-Tumor-Organoid COSM5364545 c.1324G>A p.E442K Substitution - Missense 18:32680514-32680514 - Ly19 COSM1581132 c.562C>T p.Q188* Substitution - Nonsense 18:32770030-32770030 - CSCC-27-T COSM4529719 c.1636G>A p.G546S Substitution - Missense 18:32677283-32677283 - 2530678 COSM5885491 c.741G>A p.E247E Substitution - coding silent 18:32769851-32769851 - ESO-175 COSM1255960 c.1099G>A p.V367I Substitution - Missense 18:32695523-32695523 - TCGA-AP-A059-01 COSM987784 c.1723G>A p.V575M Substitution - Missense 18:32677196-32677196 - CHC307T COSM3668124 c.1518A>C p.T506T Substitution - coding silent 18:32680239-32680239 - TCGA-FW-A3R5-06 COSM3890941 c.1344G>A p.T448T Substitution - coding silent 18:32680494-32680494 - LP6005500-DNA_A01 COSM1523227 c.1807G>A p.E603K Substitution - Missense 18:32674737-32674737 - TCGA-60-2724-01 COSM708042 c.176G>C p.R59P Substitution - Missense 18:32770416-32770416 - TCGA-A6-5660-01 COSM1255960 c.1099G>A p.V367I Substitution - Missense 18:32695523-32695523 - PDA_039 COSM5000054 c.1126G>A p.V376M Substitution - Missense 18:32695496-32695496 - TCGA-D5-6929-01 COSM1388441 c.1144C>A p.Q382K Substitution - Missense 18:32695478-32695478 - TCGA-EE-A182-06 COSM3525335 c.1787A>T p.K596I Substitution - Missense 18:32674757-32674757 - T3152 COSM4696470 c.379C>T p.L127L Substitution - coding silent 18:32770213-32770213 - ESCC_BICR_047T COSM5430353 c.1173A>G p.T391T Substitution - coding silent 18:32687220-32687220 - HT115 COSM2809915 c.1702C>A p.L568I Substitution - Missense 18:32677217-32677217 - TCGA-AD-6895-01 COSM1388443 c.634G>A p.D212N Substitution - Missense 18:32769958-32769958 - TCGA-D1-A103-01 COSM987788 c.1499G>A p.R500Q Substitution - Missense 18:32680258-32680258 - LUAD-NYU408 COSM374269 c.1395G>T p.A465A Substitution - coding silent 18:32680443-32680443 - TCGA-BR-4362-01 COSM71360 c.1354C>T p.R452C Substitution - Missense 18:32680484-32680484 - TCGA-85-6560-01 COSM708050 c.1885T>G p.*629E Nonstop extension 18:32674659-32674659 - TCGA-BR-4184-01 COSM2809937 c.970C>T p.L324L Substitution - coding silent 18:32742027-32742027 - PD4959a COSM5778316 c.486G>C p.K162N Substitution - Missense 18:32770106-32770106 - CHC1708T COSM4952312 c.66C>A p.G22G Substitution - coding silent 18:32770526-32770526 - S02065 COSM5672673 c.982G>T p.G328* Substitution - Nonsense 18:32742015-32742015 - LP6005500-DNA_A01 COSM5032494 c.1747-1G>A p.? Unknown 18:32674798-32674798 - TCGA-CM-6171-01 COSM1388444 c.582G>A p.A194A Substitution - coding silent 18:32770010-32770010 - HCT15 COSM2809953 c.640C>T p.L214L Substitution - coding silent 18:32769952-32769952 - PTC-14C COSM3756129 c.864G>A p.P288P Substitution - coding silent 18:32769728-32769728 - TCGA-AA-3663-01 COSM1388442 c.693delC p.V232fs*30 Deletion - Frameshift 18:32769899-32769899 - C086 COSM1711181 c.1003G>A p.D335N Substitution - Missense 18:32741994-32741994 - 2292385 COSM4610432 c.127C>T p.Q43* Substitution - Nonsense 18:32770465-32770465 - ESCC_57 COSM5632332 c.1588+2T>C p.? Unknown 18:32680167-32680167 - PT51 COSM1711182 c.952C>T p.R318C Substitution - Missense 18:32742045-32742045 - TCGA-CH-5769-01 COSM3783139 c.260C>A p.P87Q Substitution - Missense 18:32770332-32770332 - TCGA-BR-4361-01 COSM1388437 c.1386G>A p.A462A Substitution - coding silent 18:32680452-32680452 - TCGA-CG-5724-01 COSM4071847 c.1555C>T p.R519C Substitution - Missense 18:32680202-32680202 - C135 COSM1388442 c.693delC p.V232fs*30 Deletion - Frameshift 18:32769899-32769899 - TCGA-B5-A11E-01 COSM987785 c.1611G>A p.M537I Substitution - Missense 18:32677308-32677308 - SW948 COSM2809923 c.1231C>A p.Q411K Substitution - Missense 18:32687162-32687162 - TCGA-EB-A3Y7-01 COSM3525337 c.1588G>A p.G530S Substitution - Missense 18:32680169-32680169 - TCGA-QA-A7B7-01 COSM4909941 c.1735A>G p.S579G Substitution - Missense 18:32677184-32677184 - LUAD-F00368 COSM367681 c.241C>A p.P81T Substitution - Missense 18:32770351-32770351 - TCGA-EK-A2RK-01 COSM4829140 c.1603G>C p.D535H Substitution - Missense 18:32677316-32677316 - T407 COSM1388442 c.693delC p.V232fs*30 Deletion - Frameshift 18:32769899-32769899 - TCGA-EM-A3AN-01 COSM3371035 c.609G>A p.K203K Substitution - coding silent 18:32769983-32769983 - TCGA-BR-A4J8-01 COSM4071865 c.89A>T p.Q30L Substitution - Missense 18:32770503-32770503 - 2292385 COSM4610428 c.565G>A p.V189M Substitution - Missense 18:32770027-32770027 - CSCC-58-T COSM4451664 c.1341A>G p.E447E Substitution - coding silent 18:32680497-32680497 - OSCC-GB_00820111 COSM4887304 c.712C>A p.L238I Substitution - Missense 18:32769880-32769880 - TCGA-AA-3672-01 COSM71360 c.1354C>T p.R452C Substitution - Missense 18:32680484-32680484 - ESO-859 COSM1239274 c.931C>T p.Q311* Substitution - Nonsense 18:32769661-32769661 - TCGA-HU-8602-01 COSM4071856 c.664C>T p.R222C Substitution - Missense 18:32769928-32769928 - TCGA-B5-A11N-01 COSM987787 c.1512G>T p.M504I Substitution - Missense 18:32680245-32680245 - S01020 COSM5664996 c.1367C>T p.S456F Substitution - Missense 18:32680471-32680471 - TCGA-D9-A1JW-06 COSM1711182 c.952C>T p.R318C Substitution - Missense 18:32742045-32742045 - 255 COSM3732291 c.437A>G p.N146S Substitution - Missense 18:32770155-32770155 - 2292385 COSM4610424 c.735G>T p.W245C Substitution - Missense 18:32769857-32769857 - TCGA-CA-6717-01 COSM1388439 c.1339G>T p.E447* Substitution - Nonsense 18:32680499-32680499 - HCT15 COSM4632744 c.274C>T p.P92S Substitution - Missense 18:32770318-32770318 - TCGA-EE-A29M-06 COSM3525339 c.1413G>A p.G471G Substitution - coding silent 18:32680425-32680425 - CSCC-40-T COSM1388442 c.693delC p.V232fs*30 Deletion - Frameshift 18:32769899-32769899 - TCGA-EB-A3Y7-01 COSM1523227 c.1807G>A p.E603K Substitution - Missense 18:32674737-32674737 - HCC103 COSM3717886 c.552G>A p.Q184Q Substitution - coding silent 18:32770040-32770040 - 2521260 COSM5891524 c.1810G>A p.G604R Substitution - Missense 18:32674734-32674734 - DLBCL829 COSM1581131 c.586C>T p.H196Y Substitution - Missense 18:32770006-32770006 - TCGA-ET-A3DQ-01 COSM3371038 c.100G>T p.D34Y Substitution - Missense 18:32770492-32770492 - YURTHE COSM1711183 c.535G>A p.D179N Substitution - Missense 18:32770057-32770057 - ESCC_BICR_051T COSM5444019 c.1155G>C p.P385P Substitution - coding silent 18:32695467-32695467 - PD4094a COSM162024 c.953G>A p.R318H Substitution - Missense 18:32742044-32742044 - TCGA-FS-A1ZP-06 COSM3525341 c.1300G>A p.E434K Substitution - Missense 18:32680538-32680538 - TCGA-FW-A3R5-06 COSM3890946 c.33C>T p.F11F Substitution - coding silent 18:32770559-32770559 - TCGA-56-5898-01 COSM708046 c.1017C>A p.S339R Substitution - Missense 18:32741980-32741980 - S00035 COSM5656732 c.855A>T p.R285R Substitution - coding silent 18:32769737-32769737 - TCGA-FG-8191-01 COSM3422129 c.948-1G>T p.? Unknown 18:32742050-32742050 - TCGA-34-5929-01 COSM708048 c.1522C>A p.R508S Substitution - Missense 18:32680235-32680235 - pfg143T COSM4746880 c.200delC p.P67fs*50 Deletion - Frameshift 18:32770392-32770392 - SJMB032 COSM255550 c.196C>A p.P66T Substitution - Missense 18:32770396-32770396 - BD124T COSM2809966 c.358delC p.R120fs*28 Deletion - Frameshift 18:32770234-32770234 - TCGA-FW-A3R5-06 COSM3890942 c.489C>T p.I163I Substitution - coding silent 18:32770103-32770103 - C058 COSM3525339 c.1413G>A p.G471G Substitution - coding silent 18:32680425-32680425 - TCGA-EE-A3AF-06 COSM3525346 c.804C>T p.L268L Substitution - coding silent 18:32769788-32769788 - tumor_4189035 COSM5949445 c.330C>T p.S110S Substitution - coding silent 18:32770262-32770262 - pfg143T COSM4751966 c.692C>A p.P231H Substitution - Missense 18:32769900-32769900 - HCC102T COSM1611180 c.1702C>T p.L568F Substitution - Missense 18:32677217-32677217 - TCGA-56-6545-01 COSM708044 c.839C>A p.S280* Substitution - Nonsense 18:32769753-32769753 - LIM1215 COSM4274696 c.465G>T p.E155D Substitution - Missense 18:32770127-32770127 - YUDEXA COSM1711181 c.1003G>A p.D335N Substitution - Missense 18:32741994-32741994 - DLBCL801 COSM1581129 c.706C>G p.L236V Substitution - Missense 18:32769886-32769886 - TCGA-EB-A41A-01 COSM3525334 c.1841C>T p.A614V Substitution - Missense 18:32674703-32674703 - YUDEXA COSM1711180 c.1444G>A p.G482R Substitution - Missense 18:32680313-32680313 - QC2-05-T2 COSM5651982 c.420G>A p.E140E Substitution - coding silent 18:32770172-32770172 - HCC25 COSM1611179 c.1876T>A p.Y626N Substitution - Missense 18:32674668-32674668 - S02328 COSM5691934 c.238delG p.A80fs*37 Deletion - Frameshift 18:32770354-32770354 - TCGA-BR-8487-01 COSM4071849 c.1364C>T p.S455F Substitution - Missense 18:32680474-32680474 - TCGA-EE-A183-06 COSM3525340 c.1365C>T p.S455S Substitution - coding silent 18:32680473-32680473 - T20 COSM4696464 c.1155G>A p.P385P Substitution - coding silent 18:32695467-32695467 - TCGA-A2-A3XZ-01 COSM3821342 c.1517C>A p.T506K Substitution - Missense 18:32680240-32680240 - Pat_45_A COSM4746880 c.200delC p.P67fs*50 Deletion - Frameshift 18:32770392-32770392 - tumor_4120193 COSM3927600 c.460G>A p.V154M Substitution - Missense 18:32770132-32770132 - 2292385 COSM4610426 c.598G>A p.E200K Substitution - Missense 18:32769994-32769994 - CHC892T COSM4796222 c.499C>T p.P167S Substitution - Missense 18:32770093-32770093 - PTC-7C COSM4130956 c.390C>T p.C130C Substitution - coding silent 18:32770202-32770202 - CHC1708T COSM4952312 c.66C>A p.G22G Substitution - coding silent 18:32770526-32770526 - sysucc-1370T COSM5470812 c.1409A>G p.N470S Substitution - Missense 18:32680429-32680429 - ESO-721 COSM1255959 c.537_541delCCAGA p.Q180fs*78 Deletion - Frameshift 18:32770051-32770055 - J80_T COSM3959118 c.969G>T p.M323I Substitution - Missense 18:32742028-32742028 - TCGA-G4-6297-01 COSM3692105 c.1875A>G p.P625P Substitution - coding silent 18:32674669-32674669 - SA229 COSM212676 c.770C>T p.A257V Substitution - Missense 18:32769822-32769822 - TCGA-F1-6177-01 COSM4071854 c.668C>T p.A223V Substitution - Missense 18:32769924-32769924 - 587378 COSM1212613 c.1709A>G p.D570G Substitution - Missense 18:32677210-32677210 - CHC307T COSM3668124 c.1518A>C p.T506T Substitution - coding silent 18:32680239-32680239 - Pat_74_A COSM5854090 c.1394C>T p.A465V Substitution - Missense 18:32680444-32680444 - GHE0436 COSM5713703 c.758G>A p.R253H Substitution - Missense 18:32769834-32769834 - HCC2998 COSM2809950 c.654C>T p.F218F Substitution - coding silent 18:32769938-32769938 - T3262 COSM1239274 c.931C>T p.Q311* Substitution - Nonsense 18:32769661-32769661 - TCGA-D1-A17Q-01 COSM987786 c.1567A>C p.I523L Substitution - Missense 18:32680190-32680190 - DU-145 COSM1680320 c.1212G>T p.W404C Substitution - Missense 18:32687181-32687181 - S01022 COSM5665819 c.144G>T p.K48N Substitution - Missense 18:32770448-32770448 - TCGA-A3-3374-01 COSM1494044 c.409C>A p.L137M Substitution - Missense 18:32770183-32770183 - TCGA-B3-8121-01 COSM3989536 c.421T>G p.Y141D Substitution - Missense 18:32770171-32770171 - TCGA-EI-6917-01 COSM3422129 c.948-1G>T p.? Unknown 18:32742050-32742050 - J36_T COSM3959117 c.1126G>C p.V376L Substitution - Missense 18:32695496-32695496 - 587332 COSM1180859 c.324_326delTTC p.S110delS Deletion - In frame 18:32770266-32770268 - LUAD-S01478 COSM399774 c.206G>T p.G69V Substitution - Missense 18:32770386-32770386 - SJMB032 COSM255550 c.196C>A p.P66T Substitution - Missense 18:32770396-32770396 - HCC103T COSM3717886 c.552G>A p.Q184Q Substitution - coding silent 18:32770040-32770040 - TCGA-CA-6717-01 COSM1388435 c.1670T>C p.L557S Substitution - Missense 18:32677249-32677249 - LP6005500-DNA_A01 COSM5032509 c.1790G>A p.G597E Substitution - Missense 18:32674754-32674754 - TCGA-C5-A1MH-01 COSM4820926 c.516C>T p.L172L Substitution - coding silent 18:32770076-32770076 - DLBCL895 COSM1581125 c.1624T>C p.Y542H Substitution - Missense 18:32677295-32677295 - TCGA-EW-A1IZ-01 COSM1480301 c.1238G>T p.R413I Substitution - Missense 18:32687155-32687155 - HCT8 COSM4634313 c.64G>T p.G22C Substitution - Missense 18:32770528-32770528 - TCGA-AX-A05Z-01 COSM987790 c.1295G>T p.R432M Substitution - Missense 18:32680543-32680543 - pfg016T COSM1640955 c.1747-7A>G p.? Unknown 18:32674804-32674804 - HCC25T COSM1611179 c.1876T>A p.Y626N Substitution - Missense 18:32674668-32674668 - CSCC-44-T COSM4544069 c.348G>C p.L116L Substitution - coding silent 18:32770244-32770244 - TCGA-DU-5855-01 COSM2809945 c.711G>A p.A237A Substitution - coding silent 18:32769881-32769881 - LIM2405 COSM4642203 c.205G>A p.G69R Substitution - Missense 18:32770387-32770387 - TCGA-Q1-A73O-01 COSM4834234 c.1288G>A p.G430S Substitution - Missense 18:32680550-32680550 - TCGA-66-2744-01 COSM708043 c.375G>T p.L125L Substitution - coding silent 18:32770217-32770217 - RKO COSM1388442 c.693delC p.V232fs*30 Deletion - Frameshift 18:32769899-32769899 - ATL089 COSM5706719 c.550C>A p.Q184K Substitution - Missense 18:32770042-32770042 - SK0115_P COSM1581131 c.586C>T p.H196Y Substitution - Missense 18:32770006-32770006 - CSCC-31-T COSM4524713 c.1289G>A p.G430D Substitution - Missense 18:32680549-32680549 - LY3 COSM1581125 c.1624T>C p.Y542H Substitution - Missense 18:32677295-32677295 - TCGA-D5-6924-01 COSM563480 c.1507G>C p.D503H Substitution - Missense 18:32680250-32680250 - HCC109T COSM5816823 c.218G>A p.G73D Substitution - Missense 18:32770374-32770374 - TCGA-BR-8591-01 COSM4071859 c.227A>G p.D76G Substitution - Missense 18:32770365-32770365 - TCGA-FJ-A3ZE-01 COSM3796370 c.486G>T p.K162N Substitution - Missense 18:32770106-32770106 - TCGA-HT-7473-01 COSM3970542 c.702G>A p.S234S Substitution - coding silent 18:32769890-32769890 - 40_tFL COSM4170867 c.562C>G p.Q188E Substitution - Missense 18:32770030-32770030 - TCGA-IR-A3LL-01 COSM3890946 c.33C>T p.F11F Substitution - coding silent 18:32770559-32770559 - TCGA-ER-A194-01 COSM3525336 c.1684G>A p.G562S Substitution - Missense 18:32677235-32677235 - TCGA-AM-5820-01 COSM3756129 c.864G>A p.P288P Substitution - coding silent 18:32769728-32769728 - TCGA-F1-A448-01 COSM2809950 c.654C>T p.F218F Substitution - coding silent 18:32769938-32769938 - TCGA-18-3409-01 COSM708047 c.1149G>A p.W383* Substitution - Nonsense 18:32695473-32695473 - S0078 COSM5882983 c.1679G>C p.R560P Substitution - Missense 18:32677240-32677240 - PT35 COSM5914000 c.1710C>A p.D570E Substitution - Missense 18:32677209-32677209 - RKO COSM4648143 c.767A>G p.Y256C Substitution - Missense 18:32769825-32769825 - YUPROST COSM1711182 c.952C>T p.R318C Substitution - Missense 18:32742045-32742045 - TCGA-F1-A448-01 COSM4071848 c.1525G>A p.A509T Substitution - Missense 18:32680232-32680232 - TCGA-D8-A1XK-01 COSM3821344 c.1236A>G p.E412E Substitution - coding silent 18:32687157-32687157 - LP6005500-DNA_A01 COSM5032501 c.1750G>T p.A584S Substitution - Missense 18:32674794-32674794 - pfg122T COSM4746880 c.200delC p.P67fs*50 Deletion - Frameshift 18:32770392-32770392 - 2171661 COSM4423012 c.1343C>T p.T448M Substitution - Missense 18:32680495-32680495 - TCGA-FW-A3R5-06 COSM3890944 c.115G>A p.A39T Substitution - Missense 18:32770477-32770477 - TCGA-AP-A0LM-01 COSM987793 c.1097G>A p.C366Y Substitution - Missense 18:32695525-32695525 - tumor_4138885 COSM5946973 c.936C>G p.S312R Substitution - Missense 18:32769656-32769656 - YUGURT COSM5388019 c.1579C>T p.H527Y Substitution - Missense 18:32680178-32680178 - TCGA-BR-6452-01 COSM4071861 c.178T>A p.S60T Substitution - Missense 18:32770414-32770414 - Pat_74_B COSM5854090 c.1394C>T p.A465V Substitution - Missense 18:32680444-32680444 - DLBCL829 COSM1581128 c.718C>T p.Q240* Substitution - Nonsense 18:32769874-32769874 - DLBCL808 COSM1581126 c.1528A>G p.I510V Substitution - Missense 18:32680229-32680229 - S02284 COSM5684088 c.1094A>G p.H365R Substitution - Missense 18:32695528-32695528 - LIM1215 COSM4274721 c.20G>T p.R7M Substitution - Missense 18:32770572-32770572 - TCGA-AP-A0LM-01 COSM987791 c.1199G>A p.R400Q Substitution - Missense 18:32687194-32687194 - LUAD-E00443 COSM363787 c.1141G>A p.D381N Substitution - Missense 18:32695481-32695481 - tumor_4138885 COSM5946950 c.616A>T p.N206Y Substitution - Missense 18:32769976-32769976 - Au3 COSM5601705 c.1160G>A p.G387E Substitution - Missense 18:32687233-32687233 - TCGA-FD-A3SL-01 COSM3796374 c.381G>A p.L127L Substitution - coding silent 18:32770211-32770211 - TCGA-DI-A0WH-01 COSM987789 c.1385C>T p.A462V Substitution - Missense 18:32680453-32680453 - TCGA-AD-6895-01 COSM1388436 c.1543G>A p.V515I Substitution - Missense 18:32680214-32680214 - T26 COSM5619158 c.1377G>A p.Q459Q Substitution - coding silent 18:32680461-32680461 - TCGA-61-2095-01 COSM116419 c.1674G>T p.E558D Substitution - Missense 18:32677245-32677245 - T3446 COSM1255960 c.1099G>A p.V367I Substitution - Missense 18:32695523-32695523 - HOP-62 COSM1680321 c.509C>A p.T170N Substitution - Missense 18:32770083-32770083 - CHC892T COSM4796222 c.499C>T p.P167S Substitution - Missense 18:32770093-32770093 - TCGA-CG-4442-01 COSM4071863 c.99C>T p.C33C Substitution - coding silent 18:32770493-32770493 - tumor_4138885 COSM5946948 c.941C>G p.A314G Substitution - Missense 18:32769651-32769651 - D15 COSM71360 c.1354C>T p.R452C Substitution - Missense 18:32680484-32680484 - TCGA-A8-A097-01 COSM438058 c.1184G>C p.S395T Substitution - Missense 18:32687209-32687209 - A673 COSM2809922 c.1359T>C p.Y453Y Substitution - coding silent 18:32680479-32680479 - HCC25 COSM3717885 c.1870G>T p.V624L Substitution - Missense 18:32674674-32674674 - C058 COSM5525167 c.1414A>T p.K472* Substitution - Nonsense 18:32680424-32680424 - UM-SCC-11B COSM4597993 c.1296G>C p.R432S Substitution - Missense 18:32680542-32680542 - 70 COSM5744406 c.1261C>T p.R421W Substitution - Missense 18:32680577-32680577 - TCGA-C5-A1BJ-01 COSM4830743 c.545C>T p.S182L Substitution - Missense 18:32770047-32770047 - TCGA-AN-A0AK-01 COSM3821346 c.975A>G p.L325L Substitution - coding silent 18:32742022-32742022 - T2269 COSM4696464 c.1155G>A p.P385P Substitution - coding silent 18:32695467-32695467 - TCGA-AZ-6598-01 COSM1388440 c.1320C>T p.S440S Substitution - coding silent 18:32680518-32680518 - TCGA-EE-A3J5-06 COSM3525342 c.1123T>C p.F375L Substitution - Missense 18:32695499-32695499 - T276 COSM4696468 c.459G>A p.T153T Substitution - coding silent 18:32770133-32770133 - HCC042T COSM5823679 c.1652T>A p.I551K Substitution - Missense 18:32677267-32677267 - TCGA-EE-A2M6-06 COSM3525338 c.1486G>A p.D496N Substitution - Missense 18:32680271-32680271 - T3064 COSM4696466 c.687G>A p.P229P Substitution - coding silent 18:32769905-32769905 - TCGA-D8-A1JA-01 COSM563480 c.1507G>C p.D503H Substitution - Missense 18:32680250-32680250 - 2292385 COSM4610430 c.482G>C p.S161T Substitution - Missense 18:32770110-32770110 - TCGA-EL-A3H7-01 COSM2809956 c.588C>T p.H196H Substitution - coding silent 18:32770004-32770004 - HCC102 COSM1611180 c.1702C>T p.L568F Substitution - Missense 18:32677217-32677217 - tumor_4138885 COSM5946933 c.937C>T p.L313L Substitution - coding silent 18:32769655-32769655 - HCC25T COSM3717885 c.1870G>T p.V624L Substitution - Missense 18:32674674-32674674 - TCGA-ER-A19F-06 COSM184638 c.1678C>T p.R560* Substitution - Nonsense 18:32677241-32677241 - LUAD-5V8LT COSM401763 c.911C>A p.P304H Substitution - Missense 18:32769681-32769681 - 587284 COSM184638 c.1678C>T p.R560* Substitution - Nonsense 18:32677241-32677241 - tumor_4128477 COSM5947258 c.514C>T p.L172F Substitution - Missense 18:32770078-32770078 - TCGA-CG-4306-01 COSM4071850 c.1143C>T p.D381D Substitution - coding silent 18:32695479-32695479 - TCGA-FW-A3TU-06 COSM3525348 c.725C>T p.S242F Substitution - Missense 18:32769867-32769867 - S00472 COSM5657749 c.1027C>A p.Q343K Substitution - Missense 18:32741970-32741970 - 2292381 COSM4610027 c.778C>T p.L260F Substitution - Missense 18:32769814-32769814 - PT48 COSM5601705 c.1160G>A p.G387E Substitution - Missense 18:32687233-32687233 - NCI-H23 COSM1523225 c.1390C>A p.H464N Substitution - Missense 18:32680448-32680448 - TCGA-G4-6588-01 COSM1388445 c.519C>T p.C173C Substitution - coding silent 18:32770073-32770073 - Pat_63_B COSM5854091 c.476C>T p.S159L Substitution - Missense 18:32770116-32770116 - TCGA-13-0916-01 COSM71360 c.1354C>T p.R452C Substitution - Missense 18:32680484-32680484 - TCGA-AA-3660-01 COSM1388437 c.1386G>A p.A462A Substitution - coding silent 18:32680452-32680452 - TCGA-AX-A05Z-01 COSM987792 c.1115A>G p.N372S Substitution - Missense 18:32695507-32695507 - 2521262 COSM2809920 c.1396G>A p.G466R Substitution - Missense 18:32680442-32680442 - 2292385 COSM4610422 c.762G>A p.M254I Substitution - Missense 18:32769830-32769830 - TCGA-EE-A3JD-06 COSM4396864 c.132C>T p.F44F Substitution - coding silent 18:32770460-32770460 - PTC-28C COSM3756129 c.864G>A p.P288P Substitution - coding silent 18:32769728-32769728 - CSCC-11-T COSM4472690 c.179C>T p.S60L Substitution - Missense 18:32770413-32770413 - DLBCL804 COSM1581132 c.562C>T p.Q188* Substitution - Nonsense 18:32770030-32770030 - 12820 COSM5614547 c.1429+2C>A p.? Unknown 18:32680407-32680407 - 46M COSM987788 c.1499G>A p.R500Q Substitution - Missense 18:32680258-32680258 - 587376 COSM1212614 c.1178T>G p.F393C Substitution - Missense 18:32687215-32687215 - tumor_4189035 COSM5949554 c.564G>C p.Q188H Substitution - Missense 18:32770028-32770028 - TCGA-ER-A193-06 COSM3525350 c.478G>A p.V160I Substitution - Missense 18:32770114-32770114 - YUSIPU COSM5388020 c.590G>A p.G197D Substitution - Missense 18:32770002-32770002 - TCGA-FD-A3SO-01 COSM3796376 c.81G>T p.W27C Substitution - Missense 18:32770511-32770511 - TCGA-GN-A266-06 COSM3525343 c.1056G>A p.W352* Substitution - Nonsense 18:32741941-32741941 - TCGA-FW-A3R5-06 COSM184638 c.1678C>T p.R560* Substitution - Nonsense 18:32677241-32677241 - DLBCL759 COSM1581127 c.727G>C p.V243L Substitution - Missense 18:32769865-32769865 - TCGA-BR-8078-01 COSM4071846 c.1717T>C p.Y573H Substitution - Missense 18:32677202-32677202 - TCGA-FJ-A3ZE-01 COSM3796372 c.450C>T p.S150S Substitution - coding silent 18:32770142-32770142 - LUAD-B00523 COSM391032 c.1844delG p.C615fs*2 Deletion - Frameshift 18:32674700-32674700 - TCGA-FR-A3R1-01 COSM1711180 c.1444G>A p.G482R Substitution - Missense 18:32680313-32680313 - LIM2405 COSM4642201 c.854G>A p.R285Q Substitution - Missense 18:32769738-32769738 - TCGA-34-2596-01 COSM708045 c.978G>T p.L326F Substitution - Missense 18:32742019-32742019 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.446164 18q12.1 613772

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C 3-UTRSNV . c.1884+1T>G 18 30254622 LUSC A G Missense p.F375L c.1123T>C 18 30275462 CM A T Missense p.V278D c.833T>A 18 30349722 LUAD C A Missense p.D34Y c.100G>T 18 30350455 THCA C A Missense p.E558D c.1674G>T 18 30257208 OV C A Missense p.G74C c.220G>T 18 30350335 LUAD C A Missense p.L326F c.978G>T 18 30321982 LUSC C A Missense p.R120L c.359G>T 18 30350196 CM C A SpliceAcceptorSNV . c.948-1G>T 18 30322013 LGG C A SpliceDonorSNV . c.1429+1G>T 18 30260371 LUAD C A Synonymous p.V575V c.1725G>T 18 30257157 STAD CGAGCACCAGGCGCAGCCCGATGGA - Frameshift p.I133Tfs*7 c.394_418delTCCATCGGGCTGCGCCTGGTGCTCG 18 30350137 CM C G IntronicSNV . c.947+10252G>C 18 30339356 CLL C G Missense p.D503H c.1507G>C 18 30260213 LUAD C G Missense p.R59P c.176G>C 18 30350379 LUSC C G Missense p.S395T c.1184G>C 18 30267172 BRCA C G Missense p.W599S c.1796G>C 18 30254711 CM C T Missense p.A145T c.433G>A 18 30350122 HNSC C T Missense p.D496N c.1486G>A 18 30260234 CM C T Missense p.E434K c.1300G>A 18 30260501 CM C T Missense p.G105E c.314G>A 18 30350241 CM C T Missense p.G379E c.1136G>A 18 30275449 CM C T Missense p.G562S c.1684G>A 18 30257198 CM C T Missense p.G604E c.1811G>A 18 30254696 HNSC C T Missense p.R318H c.953G>A 18 30322007 BRCA C T Missense p.V160I c.478G>A 18 30350077 CM C T Missense p.V367I c.1099G>A 18 30275486 ESCA C T Synonymous p.G471G c.1413G>A 18 30260388 CM C T Synonymous p.L528L c.1584G>A 18 30260136 CM G A IntronicSNV . c.1069+11930C>T 18 30309961 CLL G A Missense p.A223V c.668C>T 18 30349887 STAD G A Missense p.A257V c.770C>T 18 30349785 BRCA G A Missense p.P107S c.319C>T 18 30350236 CM G A Missense p.P272L c.815C>T 18 30349740 STAD G A Missense p.R318C c.952C>T 18 30322008 CM G A Missense p.R452C c.1354C>T 18 30260447 OV G A Missense p.R519C c.1555C>T 18 30260165 STAD G A Missense p.T448M c.1343C>T 18 30260458 BRCA G A Nonsense p.Q311* c.931C>T 18 30349624 ESCA G A Nonsense p.R560* c.1678C>T 18 30257204 CM G A Synonymous p.D346D c.1038C>T 18 30321922 BRCA G A Synonymous p.D381D c.1143C>T 18 30275442 STAD G A Synonymous p.L268L c.804C>T 18 30349751 CM G A Synonymous p.S455S c.1365C>T 18 30260436 CM G C Missense p.L574V c.1720C>G 18 30257162 CM G C Missense p.P229R c.686C>G 18 30349869 BRCA G - Frameshift p.V232Wfs*30 c.693delC 18 30349862 STAD G T Missense p.P100T c.298C>A 18 30350257 LUAD G T Missense p.R508S c.1522C>A 18 30260198 LUSC G T Missense p.S339R c.1017C>A 18 30321943 LUSC G T Nonsense p.S280* c.839C>A 18 30349716 LUSC G T SpliceDonorSNV . c.1429+2C>A 18 30260370 NSCLC G T Synonymous p.A267A c.801C>A 18 30349754 LUAD T A Missense p.K596I c.1787A>T 18 30254720 CM T C IntronicSNV . c.1747-7A>G 18 30254767 STAD T C Missense p.E483G c.1448A>G 18 30260272 MM TCTGG - Frameshift p.Q180Lfs*78 c.537_541delCCAGA 18 30350014 ESCA T G Missense p.N372T c.1115A>C 18 30275470 LUAD