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 20 33080396 33080396 + Missense_Mutation SNP C C G TCGA-OR-A5K9-01A-11D-A29I-10 TCGA-OR-A5K9-11A-11D-A29L-10 g.chr20:33080396C>G c.2533C>G c.(2533-2535)Ctc>Gtc p.L845V BLCA 20 32981678 32981678 + Missense_Mutation SNP C C G TCGA-XF-A9SZ-01A-11D-A391-08 TCGA-XF-A9SZ-10A-01D-A394-08 g.chr20:32981678C>G c.61C>G c.(61-63)Cag>Gag p.Q21E BLCA 20 33000425 33000425 + Nonsense_Mutation SNP T T G TCGA-XF-A9T0-01A-11D-A391-08 TCGA-XF-A9T0-10A-01D-A394-08 g.chr20:33000425T>G c.317T>G c.(316-318)tTa>tGa p.L106* BLCA 20 33026353 33026353 + Missense_Mutation SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 g.chr20:33026353C>G c.719C>G c.(718-720)tCt>tGt p.S240C BLCA 20 33026365 33026365 + Nonsense_Mutation SNP C C G TCGA-LC-A66R-01A-41D-A30E-08 TCGA-LC-A66R-10A-01D-A30H-08 g.chr20:33026365C>G c.731C>G c.(730-732)tCa>tGa p.S244* BLCA 20 33028019 33028019 + Missense_Mutation SNP C C G TCGA-E7-A5KF-01A-11D-A289-08 TCGA-E7-A5KF-10A-01D-A289-08 g.chr20:33028019C>G c.862C>G c.(862-864)Ctg>Gtg p.L288V BLCA 20 33028024 33028024 + Silent SNP G G A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr20:33028024G>A c.867G>A c.(865-867)ccG>ccA p.P289P BLCA 20 33028050 33028050 + Missense_Mutation SNP C C A TCGA-GV-A3QG-01A-11D-A21Z-08 TCGA-GV-A3QG-10A-01D-A21Z-08 g.chr20:33028050C>A c.893C>A c.(892-894)tCt>tAt p.S298Y BLCA 20 33030012 33030012 + Splice_Site SNP G G C TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 g.chr20:33030012G>C c.e11-1 BLCA 20 33033204 33033204 + Missense_Mutation SNP C C G TCGA-XF-A9SZ-01A-11D-A391-08 TCGA-XF-A9SZ-10A-01D-A394-08 g.chr20:33033204C>G c.1201C>G c.(1201-1203)Cag>Gag p.Q401E BLCA 20 33057885 33057897 + Frame_Shift_Del DEL ACTTCAAAGCAAA ACTTCAAAGCAAA - TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 g.chr20:33057885_33057897delACTTCAAAGCAAA c.1580_1592delACTTCAAAGCAAA c.(1579-1593)gacttcaaagcaaagfs p.DFKAK527fs BLCA 20 33059275 33059275 + Missense_Mutation SNP G G C TCGA-FD-A62P-01A-32D-A30E-08 TCGA-FD-A62P-10A-01D-A30H-08 g.chr20:33059275G>C c.1647G>C c.(1645-1647)aaG>aaC p.K549N BLCA 20 33059311 33059311 + Silent SNP C C G TCGA-FD-A62P-01A-32D-A30E-08 TCGA-FD-A62P-10A-01D-A30H-08 g.chr20:33059311C>G c.1683C>G c.(1681-1683)tcC>tcG p.S561S BLCA 20 33067581 33067581 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 g.chr20:33067581G>A c.1928G>A c.(1927-1929)aGa>aAa p.R643K BLCA 20 33077105 33077105 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr20:33077105G>A c.2251G>A c.(2251-2253)Gaa>Aaa p.E751K BRCA 20 33026307 33026307 + Missense_Mutation SNP G G A TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 g.chr20:33026307G>A c.673G>A c.(673-675)Gaa>Aaa p.E225K BRCA 20 33026307 33026307 + Missense_Mutation SNP G G A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr20:33026307G>A c.673G>A c.(673-675)Gaa>Aaa p.E225K BRCA 20 33037238 33037238 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 g.chr20:33037238C>T c.1286C>T c.(1285-1287)tCa>tTa p.S429L BRCA 20 33077728 33077728 + Missense_Mutation SNP G G T TCGA-E9-A5UO-01A-11D-A28B-09 TCGA-E9-A5UO-10A-01D-A28E-09 g.chr20:33077728G>T c.2439G>T c.(2437-2439)tgG>tgT p.W813C CESC 20 33026421 33026421 + Missense_Mutation SNP A A C TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 g.chr20:33026421A>C c.787A>C c.(787-789)Acc>Ccc p.T263P CESC 20 33030037 33030037 + Silent SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 g.chr20:33030037C>T c.1017C>T c.(1015-1017)caC>caT p.H339H CESC 20 33077688 33077688 + Missense_Mutation SNP G G C TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 g.chr20:33077688G>C c.2399G>C c.(2398-2400)cGt>cCt p.R800P COAD 20 32996556 32996556 + Missense_Mutation SNP G G A TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr20:32996556G>A c.170G>A c.(169-171)tGc>tAc p.C57Y COAD 20 33000445 33000445 + Splice_Site SNP C C T TCGA-F4-6806-01A-11D-1835-10 TCGA-F4-6806-10A-01D-1835-10 g.chr20:33000445C>T c.337C>T c.(337-339)Ctt>Ttt p.L113F COAD 20 33050007 33050007 + Missense_Mutation SNP C C A TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr20:33050007C>A c.1528C>A c.(1528-1530)Cgc>Agc p.R510S COAD 20 33059290 33059290 + Frame_Shift_Del DEL A A - TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr20:33059290delA c.1662delA c.(1660-1662)agafs p.R554fs COAD 20 33068905 33068905 + Missense_Mutation SNP T T C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr20:33068905T>C c.2110T>C c.(2110-2112)Tac>Cac p.Y704H COAD 20 33095508 33095508 + Missense_Mutation SNP G G A TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chr20:33095508G>A c.2621G>A c.(2620-2622)cGc>cAc p.R874H COAD 20 33095508 33095508 + Missense_Mutation SNP G G A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr20:33095508G>A c.2621G>A c.(2620-2622)cGc>cAc p.R874H COADREAD 20 32996556 32996556 + Missense_Mutation SNP G G A TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr20:32996556G>A c.170G>A c.(169-171)tGc>tAc p.C57Y COADREAD 20 33000445 33000445 + Splice_Site SNP C C T TCGA-F4-6806-01A-11D-1835-10 TCGA-F4-6806-10A-01D-1835-10 g.chr20:33000445C>T c.337C>T c.(337-339)Ctt>Ttt p.L113F COADREAD 20 33050007 33050007 + Missense_Mutation SNP C C A TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr20:33050007C>A c.1528C>A c.(1528-1530)Cgc>Agc p.R510S COADREAD 20 33059290 33059290 + Frame_Shift_Del DEL A A - TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr20:33059290delA c.1662delA c.(1660-1662)agafs p.R554fs COADREAD 20 33068905 33068905 + Missense_Mutation SNP T T C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr20:33068905T>C c.2110T>C c.(2110-2112)Tac>Cac p.Y704H COADREAD 20 33095508 33095508 + Missense_Mutation SNP G G A TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chr20:33095508G>A c.2621G>A c.(2620-2622)cGc>cAc p.R874H COADREAD 20 33095508 33095508 + Missense_Mutation SNP G G A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr20:33095508G>A c.2621G>A c.(2620-2622)cGc>cAc p.R874H DLBC 20 32996580 32996580 + Nonsense_Mutation SNP G G A TCGA-FA-A86F-01A-11D-A382-10 TCGA-FA-A86F-10A-01D-A385-10 g.chr20:32996580G>A c.194G>A c.(193-195)tGg>tAg p.W65* ESCA 20 33000369 33000369 + Missense_Mutation SNP G G C TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 g.chr20:33000369G>C c.261G>C c.(259-261)caG>caC p.Q87H ESCA 20 33049899 33049899 + Splice_Site SNP C C T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 g.chr20:33049899C>T c.1420C>T c.(1420-1422)Caa>Taa p.Q474* ESCA 20 33050008 33050008 + Missense_Mutation SNP G G A TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 g.chr20:33050008G>A c.1529G>A c.(1528-1530)cGc>cAc p.R510H ESCA 20 33068499 33068499 + Silent SNP T T C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 g.chr20:33068499T>C c.2037T>C c.(2035-2037)tcT>tcC p.S679S GBM 20 32981637 32981637 + Missense_Mutation SNP A A G TCGA-32-1986-01A-01D-1494-08 TCGA-32-1986-10A-01D-1494-08 g.chr20:32981637A>G c.20A>G c.(19-21)cAa>cGa p.Q7R GBMLGG 20 32981637 32981637 + Missense_Mutation SNP A A G TCGA-32-1986-01A-01D-1494-08 TCGA-32-1986-10A-01D-1494-08 g.chr20:32981637A>G c.20A>G c.(19-21)cAa>cGa p.Q7R GBMLGG 20 33068913 33068913 + Silent SNP C C T TCGA-DU-5852-01A-11D-1705-08 TCGA-DU-5852-10A-01D-1705-08 g.chr20:33068913C>T c.2118C>T c.(2116-2118)tcC>tcT p.S706S HNSC 20 33001680 33001680 + Missense_Mutation SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 g.chr20:33001680C>T c.470C>T c.(469-471)tCa>tTa p.S157L HNSC 20 33033102 33033103 + Frame_Shift_Ins INS - - G TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 g.chr20:33033102_33033103insG c.1099_1100insG c.(1099-1101)cggfs p.R367fs HNSC 20 33033193 33033193 + Missense_Mutation SNP A A G TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 g.chr20:33033193A>G c.1190A>G c.(1189-1191)tAt>tGt p.Y397C HNSC 20 33033215 33033215 + Silent SNP T T C TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 g.chr20:33033215T>C c.1212T>C c.(1210-1212)cgT>cgC p.R404R HNSC 20 33033227 33033227 + Missense_Mutation SNP A A T TCGA-CV-7245-01A-11D-2012-08 TCGA-CV-7245-10A-01D-2013-08 g.chr20:33033227A>T c.1224A>T c.(1222-1224)caA>caT p.Q408H HNSC 20 33045206 33045206 + Missense_Mutation SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 g.chr20:33045206G>A c.1345G>A c.(1345-1347)Gac>Aac p.D449N HNSC 20 33068494 33068494 + Missense_Mutation SNP G G C TCGA-CR-7388-01A-11D-2012-08 TCGA-CR-7388-10A-01D-2013-08 g.chr20:33068494G>C c.2032G>C c.(2032-2034)Gaa>Caa p.E678Q HNSC 20 33077107 33077107 + Silent SNP A A G TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 g.chr20:33077107A>G c.2253A>G c.(2251-2253)gaA>gaG p.E751E HNSC 20 33080393 33080393 + Missense_Mutation SNP G G A TCGA-CV-A6K2-01A-11D-A31L-08 TCGA-CV-A6K2-10A-01D-A31J-08 g.chr20:33080393G>A c.2530G>A c.(2530-2532)Gat>Aat p.D844N KIPAN 20 33012330 33012330 + Splice_Site SNP A A C TCGA-CZ-5451-01A-01D-1501-10 TCGA-CZ-5451-11A-01D-1501-10 g.chr20:33012330A>C c.643A>C c.(643-645)Aga>Cga p.R215R KIPAN 20 33026360 33026360 + Silent SNP A A G TCGA-CJ-5671-01A-11D-1534-10 TCGA-CJ-5671-11A-01D-1534-10 g.chr20:33026360A>G c.726A>G c.(724-726)tcA>tcG p.S242S KIRC 20 33012330 33012330 + Splice_Site SNP A A C TCGA-CZ-5451-01A-01D-1501-10 TCGA-CZ-5451-11A-01D-1501-10 g.chr20:33012330A>C c.643A>C c.(643-645)Aga>Cga p.R215R KIRC 20 33026360 33026360 + Silent SNP A A G TCGA-CJ-5671-01A-11D-1534-10 TCGA-CJ-5671-11A-01D-1534-10 g.chr20:33026360A>G c.726A>G c.(724-726)tcA>tcG p.S242S LGG 20 33068913 33068913 + Silent SNP C C T TCGA-DU-5852-01A-11D-1705-08 TCGA-DU-5852-10A-01D-1705-08 g.chr20:33068913C>T c.2118C>T c.(2116-2118)tcC>tcT p.S706S LIHC 20 33059320 33059320 + Splice_Site SNP G G C TCGA-DD-AAEA-01A-11D-A40R-10 TCGA-DD-AAEA-10A-01D-A40U-10 g.chr20:33059320G>C c.1692G>C c.(1690-1692)caG>caC p.Q564H LIHC 20 33095536 33095536 + Silent SNP T T C TCGA-DD-AAEA-01A-11D-A40R-10 TCGA-DD-AAEA-10A-01D-A40U-10 g.chr20:33095536T>C c.2649T>C c.(2647-2649)taT>taC p.Y883Y LUAD 20 33001615 33001615 + Missense_Mutation SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 g.chr20:33001615G>T c.405G>T c.(403-405)ttG>ttT p.L135F LUAD 20 33012316 33012316 + Missense_Mutation SNP C C A TCGA-55-8614-01A-11D-2393-08 TCGA-55-8614-10A-01D-2393-08 g.chr20:33012316C>A c.629C>A c.(628-630)tCc>tAc p.S210Y LUAD 20 33026420 33026420 + Silent SNP C C T TCGA-55-6979-01A-11D-1945-08 TCGA-55-6979-11A-01D-1945-08 g.chr20:33026420C>T c.786C>T c.(784-786)ccC>ccT p.P262P LUAD 20 33028041 33028041 + Missense_Mutation SNP C C G TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 g.chr20:33028041C>G c.884C>G c.(883-885)aCa>aGa p.T295R LUAD 20 33028121 33028121 + Missense_Mutation SNP C C T TCGA-73-4668-01A-01D-1265-08 TCGA-73-4668-11A-01D-1265-08 g.chr20:33028121C>T c.964C>T c.(964-966)Cct>Tct p.P322S LUAD 20 33033185 33033185 + Silent SNP C C G TCGA-17-Z026-01A-01W-0746-08 TCGA-17-Z026-11A-01W-0746-08 g.chr20:33033185C>G c.1182C>G c.(1180-1182)gtC>gtG p.V394V LUAD 20 33050003 33050004 + Frame_Shift_Ins INS - - C TCGA-17-Z030-01A-01W-0746-08 TCGA-17-Z030-11A-01W-0746-08 g.chr20:33050003_33050004insC c.1524_1525insC c.(1525-1527)cccfs p.P509fs LUAD 20 33065588 33065588 + Missense_Mutation SNP C C A TCGA-69-7979-01A-11D-2184-08 TCGA-69-7979-10A-01D-2184-08 g.chr20:33065588C>A c.1704C>A c.(1702-1704)ttC>ttA p.F568L LUAD 20 33065629 33065629 + Missense_Mutation SNP C C T TCGA-69-7979-01A-11D-2184-08 TCGA-69-7979-10A-01D-2184-08 g.chr20:33065629C>T c.1745C>T c.(1744-1746)cCa>cTa p.P582L LUAD 20 33067498 33067498 + Silent SNP A A T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 g.chr20:33067498A>T c.1845A>T c.(1843-1845)gcA>gcT p.A615A LUAD 20 33068415 33068415 + Silent SNP T T C TCGA-86-8279-01A-11D-2284-08 TCGA-86-8279-10A-01D-2284-08 g.chr20:33068415T>C c.1953T>C c.(1951-1953)caT>caC p.H651H LUAD 20 33068418 33068418 + Silent SNP G G T TCGA-69-7765-01A-11D-2167-08 TCGA-69-7765-10A-01D-2167-08 g.chr20:33068418G>T c.1956G>T c.(1954-1956)ggG>ggT p.G652G LUAD 20 33068500 33068500 + Missense_Mutation SNP A A G TCGA-50-5044-01A-21D-1855-08 TCGA-50-5044-10A-01D-1855-08 g.chr20:33068500A>G c.2038A>G c.(2038-2040)Att>Gtt p.I680V LUAD 20 33077155 33077155 + Silent SNP G G A TCGA-97-A4M0-01A-11D-A24P-08 TCGA-97-A4M0-10A-01D-A24P-08 g.chr20:33077155G>A c.2301G>A c.(2299-2301)caG>caA p.Q767Q LUSC 20 33067442 33067442 + Missense_Mutation SNP T T A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr20:33067442T>A c.1789T>A c.(1789-1791)Ttc>Atc p.F597I LUSC 20 33068455 33068455 + Missense_Mutation SNP A A G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 g.chr20:33068455A>G c.1993A>G c.(1993-1995)Aag>Gag p.K665E PAAD 20 33045246 33045246 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr20:33045246G>A c.1385G>A c.(1384-1386)cGa>cAa p.R462Q PAAD 20 33045269 33045269 + Missense_Mutation SNP A A G TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 g.chr20:33045269A>G c.1408A>G c.(1408-1410)Aga>Gga p.R470G PAAD 20 33057852 33057852 + Splice_Site SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr20:33057852G>A c.e16-1 PRAD 20 32981637 32981637 + Missense_Mutation SNP A A G TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr20:32981637A>G c.20A>G c.(19-21)cAa>cGa p.Q7R PRAD 20 33033194 33033194 + Nonsense_Mutation SNP T T G TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 g.chr20:33033194T>G c.1191T>G c.(1189-1191)taT>taG p.Y397* PRAD 20 33068460 33068460 + Silent SNP T T A TCGA-J9-A8CP-01A-11D-A34U-08 TCGA-J9-A8CP-10A-01D-A34X-08 g.chr20:33068460T>A c.1998T>A c.(1996-1998)cgT>cgA p.R666R SKCM 20 33000324 33000324 + Silent SNP C C T TCGA-D3-A2JF-06A-11D-A196-08 TCGA-D3-A2JF-10A-01D-A198-08 g.chr20:33000324C>T c.216C>T c.(214-216)atC>atT p.I72I SKCM 20 33026293 33026293 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr20:33026293G>A c.659G>A c.(658-660)gGa>gAa p.G220E SKCM 20 33026303 33026303 + Silent SNP C C T TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr20:33026303C>T c.669C>T c.(667-669)gaC>gaT p.D223D SKCM 20 33026322 33026322 + Missense_Mutation SNP G G C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr20:33026322G>C c.688G>C c.(688-690)Ggt>Cgt p.G230R SKCM 20 33026409 33026409 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr20:33026409C>T c.775C>T c.(775-777)Cca>Tca p.P259S SKCM 20 33027990 33027990 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr20:33027990C>T c.833C>T c.(832-834)tCt>tTt p.S278F SKCM 20 33033181 33033181 + Missense_Mutation SNP C C T TCGA-FS-A1ZC-06A-11D-A197-08 TCGA-FS-A1ZC-10A-01D-A199-08 g.chr20:33033181C>T c.1178C>T c.(1177-1179)tCc>tTc p.S393F SKCM 20 33049960 33049960 + Missense_Mutation SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 g.chr20:33049960C>T c.1481C>T c.(1480-1482)cCa>cTa p.P494L SKCM 20 33067434 33067434 + Splice_Site SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 g.chr20:33067434G>A c.e19-1 SKCM 20 33067568 33067568 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr20:33067568C>T c.1915C>T c.(1915-1917)Cgt>Tgt p.R639C SKCM 20 33068912 33068912 + Missense_Mutation SNP C C T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr20:33068912C>T c.2117C>T c.(2116-2118)tCc>tTc p.S706F

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 20 33028019 33028019 single base substitution C G missense_variant L137V 409C>G BLCA-CN 20 33028019 33028019 single base substitution C G missense_variant L247V 739C>G BLCA-CN 20 33028019 33028019 single base substitution C G missense_variant L288V 862C>G BLCA-US 20 33026353 33026353 single base substitution C G missense_variant S199C 596C>G BLCA-US 20 33026353 33026353 single base substitution C G missense_variant S240C 719C>G BLCA-US 20 33026353 33026353 single base substitution C G missense_variant S89C 266C>G BLCA-US 20 33028050 33028050 single base substitution C A missense_variant S147Y 440C>A BLCA-US 20 33028050 33028050 single base substitution C A missense_variant S257Y 770C>A BLCA-US 20 33028050 33028050 single base substitution C A missense_variant S298Y 893C>A BLCA-US 20 33057885 33057897 deletion of <=200bp ACTTCAAAGCAAA - exon_variant BLCA-US 20 33057885 33057897 deletion of <=200bp ACTTCAAAGCAAA - frameshift_variant DFKAK376 BLCA-US 20 33057885 33057897 deletion of <=200bp ACTTCAAAGCAAA - frameshift_variant DFKAK486 BLCA-US 20 33057885 33057897 deletion of <=200bp ACTTCAAAGCAAA - frameshift_variant DFKAK527 BLCA-US 20 33057885 33057897 deletion of <=200bp ACTTCAAAGCAAA - upstream_gene_variant BLCA-US 20 33067581 33067581 single base substitution G A exon_variant BLCA-US 20 33067581 33067581 single base substitution G A missense_variant R492K 1475G>A BLCA-US 20 33067581 33067581 single base substitution G A missense_variant R602K 1805G>A BLCA-US 20 33067581 33067581 single base substitution G A missense_variant R643K 1928G>A BLCA-US 20 33077105 33077105 single base substitution G A missense_variant E600K 1798G>A BLCA-US 20 33077105 33077105 single base substitution G A missense_variant E710K 2128G>A BLCA-US 20 33077105 33077105 single base substitution G A missense_variant E751K 2251G>A BOCA-FR 20 32966637 32966637 single base substitution C G intron_variant BOCA-FR 20 32979192 32979192 single base substitution G T intron_variant BRCA-EU 20 32946299 32946299 single base substitution C A upstream_gene_variant BRCA-EU 20 32946357 32946357 single base substitution T A upstream_gene_variant BRCA-EU 20 32947177 32947177 single base substitution A T upstream_gene_variant BRCA-EU 20 32947913 32947913 single base substitution C T upstream_gene_variant BRCA-EU 20 32948436 32948436 single base substitution G A upstream_gene_variant BRCA-EU 20 32948527 32948527 single base substitution G T upstream_gene_variant BRCA-EU 20 32949239 32949239 single base substitution C T upstream_gene_variant BRCA-EU 20 32950388 32950388 single base substitution C G upstream_gene_variant BRCA-EU 20 32951016 32951016 single base substitution G T upstream_gene_variant BRCA-EU 20 32951083 32951083 single base substitution G A 5_prime_UTR_variant BRCA-EU 20 32951083 32951083 single base substitution G A exon_variant BRCA-EU 20 32951083 32951083 single base substitution G A upstream_gene_variant BRCA-EU 20 32952214 32952214 single base substitution C A intron_variant BRCA-EU 20 32954422 32954422 single base substitution C G intron_variant BRCA-EU 20 32954801 32954801 deletion of <=200bp T - intron_variant BRCA-EU 20 32955679 32955679 single base substitution G C intron_variant BRCA-EU 20 32957333 32957333 single base substitution C G exon_variant BRCA-EU 20 32957333 32957333 single base substitution C G intron_variant BRCA-EU 20 32958577 32958577 single base substitution T C downstream_gene_variant BRCA-EU 20 32958577 32958577 single base substitution T C intron_variant BRCA-EU 20 32959932 32959932 single base substitution G A downstream_gene_variant BRCA-EU 20 32959932 32959932 single base substitution G A intron_variant BRCA-EU 20 32959967 32959967 single base substitution T C downstream_gene_variant BRCA-EU 20 32959967 32959967 single base substitution T C intron_variant BRCA-EU 20 32960515 32960515 single base substitution G A downstream_gene_variant BRCA-EU 20 32960515 32960515 single base substitution G A intron_variant BRCA-EU 20 32962295 32962295 insertion of <=200bp - GTG downstream_gene_variant BRCA-EU 20 32962295 32962295 insertion of <=200bp - GTG intron_variant BRCA-EU 20 32963777 32963777 single base substitution C T intron_variant BRCA-EU 20 32965007 32965007 single base substitution C T intron_variant BRCA-EU 20 32965192 32965192 single base substitution C A intron_variant BRCA-EU 20 32965317 32965317 single base substitution G A intron_variant BRCA-EU 20 32966151 32966151 single base substitution G A intron_variant BRCA-EU 20 32967371 32967371 single base substitution C T intron_variant BRCA-EU 20 32968660 32968660 single base substitution C T intron_variant BRCA-EU 20 32969950 32969950 single base substitution C G intron_variant BRCA-EU 20 32970199 32970199 single base substitution C T intron_variant BRCA-EU 20 32970220 32970220 single base substitution T G intron_variant BRCA-EU 20 32970941 32970941 single base substitution G A intron_variant BRCA-EU 20 32971129 32971129 single base substitution T A intron_variant BRCA-EU 20 32971423 32971423 single base substitution C T intron_variant BRCA-EU 20 32972252 32972252 single base substitution C A intron_variant BRCA-EU 20 32972937 32972937 single base substitution C T intron_variant BRCA-EU 20 32973094 32973094 single base substitution C T intron_variant BRCA-EU 20 32974175 32974175 single base substitution C T intron_variant BRCA-EU 20 32975387 32975387 single base substitution G A intron_variant BRCA-EU 20 32977343 32977343 single base substitution G A intron_variant BRCA-EU 20 32977782 32977782 single base substitution C G intron_variant BRCA-EU 20 32978142 32978142 single base substitution C A intron_variant BRCA-EU 20 32978153 32978153 single base substitution T A intron_variant BRCA-EU 20 32978409 32978409 single base substitution C T intron_variant BRCA-EU 20 32978656 32978656 single base substitution C G intron_variant BRCA-EU 20 32979491 32979491 single base substitution G A intron_variant BRCA-EU 20 32980735 32980735 single base substitution C G intron_variant BRCA-EU 20 32982763 32982763 single base substitution C T intron_variant BRCA-EU 20 32983845 32983845 single base substitution T A intron_variant BRCA-EU 20 32984496 32984496 single base substitution G A intron_variant BRCA-EU 20 32986061 32986061 single base substitution G A intron_variant BRCA-EU 20 32986360 32986360 single base substitution A G intron_variant BRCA-EU 20 32986910 32986910 single base substitution A G intron_variant BRCA-EU 20 32988345 32988345 deletion of <=200bp A - intron_variant BRCA-EU 20 32988432 32988432 single base substitution A G intron_variant BRCA-EU 20 32989395 32989395 single base substitution C T intron_variant BRCA-EU 20 32990380 32990380 single base substitution C G intron_variant BRCA-EU 20 32991978 32991978 insertion of <=200bp - T intron_variant BRCA-EU 20 32992508 32992508 single base substitution C A intron_variant BRCA-EU 20 32993139 32993139 single base substitution C T intron_variant BRCA-EU 20 32993284 32993284 single base substitution C T intron_variant BRCA-EU 20 32993603 32993603 single base substitution A T intron_variant BRCA-EU 20 32993776 32993776 single base substitution G C intron_variant BRCA-EU 20 32993923 32993923 single base substitution G T intron_variant BRCA-EU 20 32994407 32994407 single base substitution C T intron_variant BRCA-EU 20 32996077 32996077 single base substitution G A intron_variant BRCA-EU 20 33003364 33003364 insertion of <=200bp - A downstream_gene_variant BRCA-EU 20 33003364 33003364 insertion of <=200bp - A intron_variant BRCA-EU 20 33003440 33003440 single base substitution C A downstream_gene_variant BRCA-EU 20 33003440 33003440 single base substitution C A intron_variant BRCA-EU 20 33004153 33004153 single base substitution G A downstream_gene_variant BRCA-EU 20 33004153 33004153 single base substitution G A intron_variant BRCA-EU 20 33004276 33004276 single base substitution C T downstream_gene_variant BRCA-EU 20 33004276 33004276 single base substitution C T intron_variant BRCA-EU 20 33007399 33007399 single base substitution C G intron_variant BRCA-EU 20 33007707 33007707 single base substitution C T intron_variant BRCA-EU 20 33008501 33008501 single base substitution C T intron_variant BRCA-EU 20 33008870 33008870 single base substitution C T intron_variant BRCA-EU 20 33009200 33009200 single base substitution C T intron_variant BRCA-EU 20 33010006 33010006 single base substitution G C intron_variant BRCA-EU 20 33010253 33010253 single base substitution T C intron_variant BRCA-EU 20 33012696 33012696 single base substitution G A intron_variant BRCA-EU 20 33015430 33015430 single base substitution C T intron_variant BRCA-EU 20 33015586 33015586 single base substitution C T intron_variant BRCA-EU 20 33016537 33016537 single base substitution G C intron_variant BRCA-EU 20 33017281 33017281 single base substitution G A intron_variant BRCA-EU 20 33019176 33019176 single base substitution G A intron_variant BRCA-EU 20 33020786 33020786 single base substitution A C intron_variant BRCA-EU 20 33021976 33021976 single base substitution A G intron_variant BRCA-EU 20 33022961 33022961 single base substitution T G intron_variant BRCA-EU 20 33022981 33022981 single base substitution T G intron_variant BRCA-EU 20 33023120 33023120 single base substitution G A intron_variant BRCA-EU 20 33024559 33024559 single base substitution G A intron_variant BRCA-EU 20 33024596 33024596 single base substitution G A intron_variant BRCA-EU 20 33025220 33025220 single base substitution C T intron_variant BRCA-EU 20 33026208 33026208 insertion of <=200bp - T intron_variant BRCA-EU 20 33026918 33026918 single base substitution C G intron_variant BRCA-EU 20 33027398 33027398 single base substitution A C intron_variant BRCA-EU 20 33028065 33028065 single base substitution C T missense_variant S152F 455C>T BRCA-EU 20 33028065 33028065 single base substitution C T missense_variant S262F 785C>T BRCA-EU 20 33028065 33028065 single base substitution C T missense_variant S303F 908C>T BRCA-EU 20 33030485 33030485 single base substitution A T intron_variant BRCA-EU 20 33030485 33030485 single base substitution A T upstream_gene_variant BRCA-EU 20 33030889 33030889 single base substitution A T intron_variant BRCA-EU 20 33030889 33030889 single base substitution A T upstream_gene_variant BRCA-EU 20 33031437 33031437 single base substitution T A intron_variant BRCA-EU 20 33031437 33031437 single base substitution T A upstream_gene_variant BRCA-EU 20 33032099 33032099 single base substitution A T intron_variant BRCA-EU 20 33032099 33032099 single base substitution A T upstream_gene_variant BRCA-EU 20 33032168 33032168 single base substitution C T intron_variant BRCA-EU 20 33032168 33032168 single base substitution C T upstream_gene_variant BRCA-EU 20 33032805 33032805 single base substitution T C intron_variant BRCA-EU 20 33032805 33032805 single base substitution T C upstream_gene_variant BRCA-EU 20 33032835 33032835 single base substitution G C intron_variant BRCA-EU 20 33032835 33032835 single base substitution G C upstream_gene_variant BRCA-EU 20 33033090 33033090 single base substitution A C splice_acceptor_variant BRCA-EU 20 33033090 33033090 single base substitution A C upstream_gene_variant BRCA-EU 20 33033729 33033748 deletion of <=200bp ATTTGATCCTTTATAGGAGT - intron_variant BRCA-EU 20 33035465 33035465 single base substitution G A intron_variant BRCA-EU 20 33036145 33036145 single base substitution C T intron_variant BRCA-EU 20 33036176 33036176 single base substitution C A intron_variant BRCA-EU 20 33036506 33036506 single base substitution A T intron_variant BRCA-EU 20 33037324 33037324 single base substitution C T intron_variant BRCA-EU 20 33037640 33037640 single base substitution C T intron_variant BRCA-EU 20 33037765 33037765 single base substitution A C intron_variant BRCA-EU 20 33038095 33038095 single base substitution A C intron_variant BRCA-EU 20 33038779 33038779 single base substitution T G intron_variant BRCA-EU 20 33039404 33039404 single base substitution T C intron_variant BRCA-EU 20 33039545 33039545 single base substitution A G intron_variant BRCA-EU 20 33040225 33040225 single base substitution A C intron_variant BRCA-EU 20 33043069 33043069 single base substitution C A intron_variant BRCA-EU 20 33043527 33043527 single base substitution C G intron_variant BRCA-EU 20 33045045 33045045 single base substitution A G intron_variant BRCA-EU 20 33046211 33046211 single base substitution A G intron_variant BRCA-EU 20 33051439 33051439 deletion of <=200bp T - intron_variant BRCA-EU 20 33051929 33051929 single base substitution G A intron_variant BRCA-EU 20 33052908 33052908 single base substitution C G intron_variant BRCA-EU 20 33053050 33053050 single base substitution G T intron_variant BRCA-EU 20 33053868 33053868 single base substitution T C intron_variant BRCA-EU 20 33054130 33054130 deletion of <=200bp T - intron_variant BRCA-EU 20 33054505 33054505 single base substitution C G intron_variant BRCA-EU 20 33054505 33054505 single base substitution C G upstream_gene_variant BRCA-EU 20 33054979 33054979 single base substitution G T intron_variant BRCA-EU 20 33054979 33054979 single base substitution G T upstream_gene_variant BRCA-EU 20 33054991 33054991 single base substitution G C intron_variant BRCA-EU 20 33054991 33054991 single base substitution G C upstream_gene_variant BRCA-EU 20 33055073 33055073 single base substitution C G intron_variant BRCA-EU 20 33055073 33055073 single base substitution C G upstream_gene_variant BRCA-EU 20 33057430 33057430 single base substitution T G intron_variant BRCA-EU 20 33057430 33057430 single base substitution T G upstream_gene_variant BRCA-EU 20 33057609 33057609 single base substitution T C intron_variant BRCA-EU 20 33057609 33057609 single base substitution T C upstream_gene_variant BRCA-EU 20 33058083 33058083 single base substitution C G intron_variant BRCA-EU 20 33058083 33058083 single base substitution C G upstream_gene_variant BRCA-EU 20 33058793 33058793 deletion of <=200bp T - intron_variant BRCA-EU 20 33058793 33058793 deletion of <=200bp T - upstream_gene_variant BRCA-EU 20 33060292 33060292 single base substitution G C intron_variant BRCA-EU 20 33060555 33060555 single base substitution G T intron_variant BRCA-EU 20 33061312 33061312 single base substitution C T intron_variant BRCA-EU 20 33063505 33063505 single base substitution G A intron_variant BRCA-EU 20 33063651 33063651 single base substitution C T intron_variant BRCA-EU 20 33063883 33063883 single base substitution C T intron_variant BRCA-EU 20 33065273 33065273 single base substitution G C intron_variant BRCA-EU 20 33065698 33065698 single base substitution C A exon_variant BRCA-EU 20 33065698 33065698 single base substitution C A intron_variant BRCA-EU 20 33065819 33065819 insertion of <=200bp - A intron_variant BRCA-EU 20 33066006 33066006 single base substitution T C intron_variant BRCA-EU 20 33066938 33066938 single base substitution A G intron_variant BRCA-EU 20 33067984 33067984 single base substitution A T intron_variant BRCA-EU 20 33069107 33069107 single base substitution A C downstream_gene_variant BRCA-EU 20 33069107 33069107 single base substitution A C intron_variant BRCA-EU 20 33069597 33069597 single base substitution C T downstream_gene_variant BRCA-EU 20 33069597 33069597 single base substitution C T intron_variant BRCA-EU 20 33070369 33070369 single base substitution C T downstream_gene_variant BRCA-EU 20 33070369 33070369 single base substitution C T intron_variant BRCA-EU 20 33070990 33070990 single base substitution C G downstream_gene_variant BRCA-EU 20 33070990 33070990 single base substitution C G intron_variant BRCA-EU 20 33072049 33072049 single base substitution G A downstream_gene_variant BRCA-EU 20 33072049 33072049 single base substitution G A intron_variant BRCA-EU 20 33073295 33073295 single base substitution C T downstream_gene_variant BRCA-EU 20 33073295 33073295 single base substitution C T intron_variant BRCA-EU 20 33073511 33073511 single base substitution G A downstream_gene_variant BRCA-EU 20 33073511 33073511 single base substitution G A intron_variant BRCA-EU 20 33074143 33074144 deletion of <=200bp TC - intron_variant BRCA-EU 20 33074144 33074144 single base substitution C T intron_variant BRCA-EU 20 33074368 33074368 single base substitution T C intron_variant BRCA-EU 20 33075481 33075481 single base substitution C T intron_variant BRCA-EU 20 33075745 33075745 deletion of <=200bp A - intron_variant BRCA-EU 20 33075833 33075833 single base substitution G A intron_variant BRCA-EU 20 33076493 33076493 single base substitution G C intron_variant BRCA-EU 20 33076855 33076855 single base substitution G T intron_variant BRCA-EU 20 33076957 33076957 single base substitution C A intron_variant BRCA-EU 20 33077016 33077016 deletion of <=200bp A - intron_variant BRCA-EU 20 33077326 33077326 single base substitution C T intron_variant BRCA-EU 20 33078487 33078487 single base substitution A C intron_variant BRCA-EU 20 33079063 33079063 insertion of <=200bp - AA intron_variant BRCA-EU 20 33079340 33079340 single base substitution A G intron_variant BRCA-EU 20 33080056 33080056 single base substitution C G intron_variant BRCA-EU 20 33080376 33080376 single base substitution C A missense_variant P687Q 2060C>A BRCA-EU 20 33080376 33080376 single base substitution C A missense_variant P797Q 2390C>A BRCA-EU 20 33080376 33080376 single base substitution C A missense_variant P838Q 2513C>A BRCA-EU 20 33080853 33080853 single base substitution A G intron_variant BRCA-EU 20 33082938 33082938 single base substitution T C intron_variant BRCA-EU 20 33084400 33084400 single base substitution C T intron_variant BRCA-EU 20 33084736 33084736 single base substitution C T intron_variant BRCA-EU 20 33084782 33084782 single base substitution G C intron_variant BRCA-EU 20 33088612 33088612 single base substitution T C intron_variant BRCA-EU 20 33089280 33089280 single base substitution C G intron_variant BRCA-EU 20 33090500 33090500 single base substitution G A intron_variant BRCA-EU 20 33090698 33090698 single base substitution T A intron_variant BRCA-EU 20 33091996 33091996 single base substitution G A intron_variant BRCA-EU 20 33092316 33092316 single base substitution C T intron_variant BRCA-EU 20 33093143 33093143 single base substitution C G intron_variant BRCA-EU 20 33093589 33093589 single base substitution G T intron_variant BRCA-EU 20 33096066 33096066 single base substitution G A 3_prime_UTR_variant BRCA-EU 20 33096066 33096066 single base substitution G A downstream_gene_variant BRCA-EU 20 33096382 33096382 single base substitution G A 3_prime_UTR_variant BRCA-EU 20 33096382 33096382 single base substitution G A downstream_gene_variant BRCA-EU 20 33096489 33096489 deletion of <=200bp A - 3_prime_UTR_variant BRCA-EU 20 33096489 33096489 deletion of <=200bp A - downstream_gene_variant BRCA-EU 20 33096667 33096667 single base substitution C G 3_prime_UTR_variant BRCA-EU 20 33096667 33096667 single base substitution C G downstream_gene_variant BRCA-EU 20 33096700 33096700 single base substitution G C 3_prime_UTR_variant BRCA-EU 20 33096700 33096700 single base substitution G C downstream_gene_variant BRCA-EU 20 33098938 33098938 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU 20 33098938 33098938 deletion of <=200bp T - downstream_gene_variant BRCA-EU 20 33100161 33100161 single base substitution A G downstream_gene_variant BRCA-EU 20 33100648 33100648 single base substitution C G downstream_gene_variant BRCA-EU 20 33101152 33101152 single base substitution C G downstream_gene_variant BRCA-EU 20 33101429 33101429 single base substitution C T downstream_gene_variant BRCA-EU 20 33102635 33102635 single base substitution C G downstream_gene_variant BRCA-EU 20 33103178 33103178 single base substitution G A downstream_gene_variant BRCA-EU 20 33103414 33103414 single base substitution C T downstream_gene_variant BRCA-EU 20 33103622 33103622 single base substitution A G downstream_gene_variant BRCA-EU 20 33103971 33103971 single base substitution A C downstream_gene_variant BRCA-EU 20 33104093 33104093 single base substitution A C downstream_gene_variant BRCA-FR 20 32967371 32967371 single base substitution C T intron_variant BRCA-FR 20 32969950 32969950 single base substitution C G intron_variant BRCA-FR 20 32970199 32970199 single base substitution C T intron_variant BRCA-FR 20 32970279 32970279 single base substitution C G intron_variant BRCA-FR 20 32977782 32977782 single base substitution C G intron_variant BRCA-FR 20 32984081 32984081 single base substitution C T intron_variant BRCA-FR 20 32989395 32989395 single base substitution C T intron_variant BRCA-FR 20 32993284 32993284 single base substitution C T intron_variant BRCA-FR 20 32994118 32994118 single base substitution G A intron_variant BRCA-FR 20 33004276 33004276 single base substitution C T downstream_gene_variant BRCA-FR 20 33004276 33004276 single base substitution C T intron_variant BRCA-FR 20 33030485 33030485 single base substitution A T intron_variant BRCA-FR 20 33030485 33030485 single base substitution A T upstream_gene_variant BRCA-FR 20 33053050 33053050 single base substitution G T intron_variant BRCA-FR 20 33054505 33054505 single base substitution C G intron_variant BRCA-FR 20 33054505 33054505 single base substitution C G upstream_gene_variant BRCA-FR 20 33054991 33054991 single base substitution G C intron_variant BRCA-FR 20 33054991 33054991 single base substitution G C upstream_gene_variant BRCA-FR 20 33060292 33060292 single base substitution G C intron_variant BRCA-FR 20 33084782 33084782 single base substitution G C intron_variant BRCA-FR 20 33086884 33086884 single base substitution A T intron_variant BRCA-FR 20 33089280 33089280 single base substitution C G intron_variant BRCA-FR 20 33099140 33099140 single base substitution C A 3_prime_UTR_variant BRCA-FR 20 33099140 33099140 single base substitution C A downstream_gene_variant BRCA-FR 20 33100648 33100648 single base substitution C G downstream_gene_variant BRCA-FR 20 33101152 33101152 single base substitution C G downstream_gene_variant BRCA-FR 20 33102635 33102635 single base substitution C G downstream_gene_variant BRCA-UK 20 32961031 32961031 single base substitution C T downstream_gene_variant BRCA-UK 20 32961031 32961031 single base substitution C T intron_variant BRCA-UK 20 32993312 32993312 single base substitution C G intron_variant BRCA-UK 20 32994167 32994167 single base substitution C G intron_variant BRCA-UK 20 33027992 33027992 single base substitution G A missense_variant E128K 382G>A BRCA-UK 20 33027992 33027992 single base substitution G A missense_variant E238K 712G>A BRCA-UK 20 33027992 33027992 single base substitution G A missense_variant E279K 835G>A BRCA-UK 20 33032835 33032835 single base substitution G C intron_variant BRCA-UK 20 33032835 33032835 single base substitution G C upstream_gene_variant BRCA-UK 20 33077070 33077070 single base substitution G T splice_acceptor_variant BRCA-UK 20 33077129 33077129 single base substitution G A missense_variant E608K 1822G>A BRCA-UK 20 33077129 33077129 single base substitution G A missense_variant E718K 2152G>A BRCA-UK 20 33077129 33077129 single base substitution G A missense_variant E759K 2275G>A BRCA-UK 20 33077189 33077189 single base substitution G C missense_variant E628Q 1882G>C BRCA-UK 20 33077189 33077189 single base substitution G C missense_variant E738Q 2212G>C BRCA-UK 20 33077189 33077189 single base substitution G C missense_variant E779Q 2335G>C BRCA-US 20 33026307 33026307 single base substitution G A missense_variant E184K 550G>A BRCA-US 20 33026307 33026307 single base substitution G A missense_variant E225K 673G>A BRCA-US 20 33026307 33026307 single base substitution G A missense_variant E74K 220G>A BRCA-US 20 33037238 33037238 single base substitution C T exon_variant BRCA-US 20 33037238 33037238 single base substitution C T missense_variant S278L 833C>T BRCA-US 20 33037238 33037238 single base substitution C T missense_variant S388L 1163C>T BRCA-US 20 33037238 33037238 single base substitution C T missense_variant S429L 1286C>T BRCA-US 20 33077728 33077728 single base substitution G T missense_variant W662C 1986G>T BRCA-US 20 33077728 33077728 single base substitution G T missense_variant W772C 2316G>T BRCA-US 20 33077728 33077728 single base substitution G T missense_variant W813C 2439G>T BTCA-JP 20 32981663 32981663 single base substitution A G 5_prime_UTR_variant BTCA-JP 20 32981663 32981663 single base substitution A G exon_variant BTCA-JP 20 32981663 32981663 single base substitution A G missense_variant M16V 46A>G BTCA-JP 20 32996729 32996729 single base substitution T C intron_variant BTCA-JP 20 33033065 33033065 single base substitution G T intron_variant BTCA-JP 20 33033065 33033065 single base substitution G T upstream_gene_variant BTCA-JP 20 33033083 33033083 single base substitution C T intron_variant BTCA-JP 20 33033083 33033083 single base substitution C T upstream_gene_variant BTCA-JP 20 33049978 33049978 single base substitution A G exon_variant BTCA-JP 20 33049978 33049978 single base substitution A G missense_variant N349S 1046A>G BTCA-JP 20 33049978 33049978 single base substitution A G missense_variant N459S 1376A>G BTCA-JP 20 33049978 33049978 single base substitution A G missense_variant N500S 1499A>G BTCA-JP 20 33065566 33065566 deletion of <=200bp T - intron_variant BTCA-JP 20 33065566 33065566 insertion of <=200bp - T intron_variant CESC-US 20 33026421 33026421 single base substitution A C missense_variant T112P 334A>C CESC-US 20 33026421 33026421 single base substitution A C missense_variant T222P 664A>C CESC-US 20 33026421 33026421 single base substitution A C missense_variant T263P 787A>C CESC-US 20 33030037 33030037 single base substitution C T synonymous_variant H188H 564C>T CESC-US 20 33030037 33030037 single base substitution C T synonymous_variant H298H 894C>T CESC-US 20 33030037 33030037 single base substitution C T synonymous_variant H339H 1017C>T CESC-US 20 33030037 33030037 single base substitution C T upstream_gene_variant CESC-US 20 33077688 33077688 single base substitution G C missense_variant R649P 1946G>C CESC-US 20 33077688 33077688 single base substitution G C missense_variant R759P 2276G>C CESC-US 20 33077688 33077688 single base substitution G C missense_variant R800P 2399G>C CLLE-ES 20 32959328 32959328 single base substitution G A downstream_gene_variant CLLE-ES 20 32959328 32959328 single base substitution G A intron_variant CLLE-ES 20 32965395 32965395 single base substitution C G intron_variant CLLE-ES 20 32968446 32968446 single base substitution A T intron_variant CLLE-ES 20 32972192 32972192 single base substitution A G intron_variant CLLE-ES 20 32998114 32998114 single base substitution C T intron_variant CLLE-ES 20 33003099 33003099 single base substitution C T downstream_gene_variant CLLE-ES 20 33003099 33003099 single base substitution C T intron_variant CLLE-ES 20 33005812 33005812 single base substitution G T downstream_gene_variant CLLE-ES 20 33005812 33005812 single base substitution G T intron_variant CLLE-ES 20 33007274 33007274 single base substitution G A intron_variant CLLE-ES 20 33008066 33008066 single base substitution G C intron_variant CLLE-ES 20 33012720 33012720 single base substitution G A intron_variant CLLE-ES 20 33021482 33021482 single base substitution A C intron_variant CLLE-ES 20 33043219 33043219 single base substitution A G intron_variant CLLE-ES 20 33079795 33079795 single base substitution T G intron_variant CLLE-ES 20 33092998 33092998 single base substitution G A intron_variant CLLE-ES 20 33098029 33098029 single base substitution G A 3_prime_UTR_variant CLLE-ES 20 33098029 33098029 single base substitution G A downstream_gene_variant COAD-US 20 33000353 33000353 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant COAD-US 20 33000353 33000353 single base substitution G A exon_variant COAD-US 20 33000353 33000353 single base substitution G A missense_variant R82H 245G>A COAD-US 20 33000445 33000445 single base substitution C T missense_variant L113F 337C>T COAD-US 20 33000445 33000445 single base substitution C T missense_variant L3F 7C>T COAD-US 20 33000445 33000445 single base substitution C T splice_region_variant COAD-US 20 33050007 33050007 single base substitution C A exon_variant COAD-US 20 33050007 33050007 single base substitution C A missense_variant R359S 1075C>A COAD-US 20 33050007 33050007 single base substitution C A missense_variant R469S 1405C>A COAD-US 20 33050007 33050007 single base substitution C A missense_variant R510S 1528C>A COAD-US 20 33068905 33068905 single base substitution T C exon_variant COAD-US 20 33068905 33068905 single base substitution T C missense_variant Y553H 1657T>C COAD-US 20 33068905 33068905 single base substitution T C missense_variant Y663H 1987T>C COAD-US 20 33068905 33068905 single base substitution T C missense_variant Y704H 2110T>C COAD-US 20 33095508 33095508 single base substitution G A missense_variant R723H 2168G>A COAD-US 20 33095508 33095508 single base substitution G A missense_variant R833H 2498G>A COAD-US 20 33095508 33095508 single base substitution G A missense_variant R874H 2621G>A COCA-CN 20 32968747 32968747 single base substitution C G intron_variant COCA-CN 20 32981546 32981546 single base substitution G C intron_variant COCA-CN 20 32981729 32981729 single base substitution C T intron_variant COCA-CN 20 32996681 32996681 single base substitution G T intron_variant COCA-CN 20 32996716 32996716 single base substitution C T intron_variant COCA-CN 20 33016382 33016382 single base substitution G T intron_variant COCA-CN 20 33026398 33026398 single base substitution G T missense_variant R104I 311G>T COCA-CN 20 33026398 33026398 single base substitution G T missense_variant R214I 641G>T COCA-CN 20 33026398 33026398 single base substitution G T missense_variant R255I 764G>T COCA-CN 20 33027898 33027898 single base substitution A C intron_variant COCA-CN 20 33037408 33037408 single base substitution A T intron_variant COCA-CN 20 33045092 33045092 single base substitution G T intron_variant COCA-CN 20 33054163 33054163 single base substitution A G intron_variant COCA-CN 20 33059445 33059445 single base substitution C T intron_variant EOPC-DE 20 32984000 32984000 single base substitution T C intron_variant EOPC-DE 20 33014730 33014730 single base substitution G A intron_variant EOPC-DE 20 33042973 33042973 single base substitution A G intron_variant EOPC-DE 20 33057730 33057730 single base substitution G T intron_variant EOPC-DE 20 33057730 33057730 single base substitution G T upstream_gene_variant EOPC-DE 20 33102171 33102171 single base substitution C G downstream_gene_variant ESAD-UK 20 32947155 32947155 single base substitution G C upstream_gene_variant ESAD-UK 20 32948363 32948374 deletion of <=200bp TTCAAGCAATTC - upstream_gene_variant ESAD-UK 20 32955245 32955245 single base substitution G A intron_variant ESAD-UK 20 32956940 32956940 single base substitution C T intron_variant ESAD-UK 20 32958560 32958560 single base substitution C A downstream_gene_variant ESAD-UK 20 32958560 32958560 single base substitution C A intron_variant ESAD-UK 20 32959558 32959558 single base substitution G C downstream_gene_variant ESAD-UK 20 32959558 32959558 single base substitution G C intron_variant ESAD-UK 20 32960754 32960754 single base substitution G T downstream_gene_variant ESAD-UK 20 32960754 32960754 single base substitution G T intron_variant ESAD-UK 20 32964325 32964325 single base substitution T C intron_variant ESAD-UK 20 32964534 32964534 single base substitution T A intron_variant ESAD-UK 20 32968269 32968269 single base substitution T C intron_variant ESAD-UK 20 32968829 32968829 single base substitution A C intron_variant ESAD-UK 20 32969092 32969092 single base substitution G T intron_variant ESAD-UK 20 32970506 32970506 single base substitution G A intron_variant ESAD-UK 20 32970939 32970939 single base substitution T C intron_variant ESAD-UK 20 32971075 32971075 single base substitution C T intron_variant ESAD-UK 20 32972827 32972827 single base substitution T A intron_variant ESAD-UK 20 32973407 32973407 single base substitution C T intron_variant ESAD-UK 20 32974879 32974879 single base substitution C T intron_variant ESAD-UK 20 32974904 32974904 single base substitution T C intron_variant ESAD-UK 20 32975514 32975514 single base substitution T G intron_variant ESAD-UK 20 32976994 32976994 single base substitution A T intron_variant ESAD-UK 20 32978205 32978207 deletion of <=200bp ATA - intron_variant ESAD-UK 20 32979427 32979427 single base substitution T G intron_variant ESAD-UK 20 32981125 32981125 single base substitution G T intron_variant ESAD-UK 20 32983845 32983845 single base substitution T A intron_variant ESAD-UK 20 32984527 32984527 single base substitution T A intron_variant ESAD-UK 20 32984952 32984952 single base substitution C A intron_variant ESAD-UK 20 32985533 32985533 deletion of <=200bp T - intron_variant ESAD-UK 20 32985714 32985714 single base substitution A G intron_variant ESAD-UK 20 32986780 32986780 single base substitution C T intron_variant ESAD-UK 20 32986807 32986807 single base substitution T G intron_variant ESAD-UK 20 32987091 32987091 deletion of <=200bp G - intron_variant ESAD-UK 20 32989121 32989121 single base substitution A T intron_variant ESAD-UK 20 32989574 32989574 deletion of <=200bp A - intron_variant ESAD-UK 20 32989840 32989840 single base substitution G A intron_variant ESAD-UK 20 32990680 32990680 single base substitution C T intron_variant ESAD-UK 20 32992474 32992474 single base substitution C G intron_variant ESAD-UK 20 32993998 32993998 single base substitution T A intron_variant ESAD-UK 20 32996474 32996474 single base substitution A T exon_variant ESAD-UK 20 32996474 32996474 single base substitution A T intron_variant ESAD-UK 20 32996474 32996474 single base substitution A T stop_gained K30* 88A>T ESAD-UK 20 32998192 32998192 single base substitution A G intron_variant ESAD-UK 20 32999843 32999843 single base substitution C A intron_variant ESAD-UK 20 33000103 33000103 single base substitution T G intron_variant ESAD-UK 20 33001794 33001794 single base substitution T C downstream_gene_variant ESAD-UK 20 33001794 33001794 single base substitution T C intron_variant ESAD-UK 20 33001992 33001992 single base substitution T C downstream_gene_variant ESAD-UK 20 33001992 33001992 single base substitution T C intron_variant ESAD-UK 20 33002727 33002727 single base substitution C T downstream_gene_variant ESAD-UK 20 33002727 33002727 single base substitution C T intron_variant ESAD-UK 20 33003921 33003921 single base substitution C A downstream_gene_variant ESAD-UK 20 33003921 33003921 single base substitution C A intron_variant ESAD-UK 20 33004201 33004201 single base substitution T C downstream_gene_variant ESAD-UK 20 33004201 33004201 single base substitution T C intron_variant ESAD-UK 20 33004300 33004300 deletion of <=200bp T - downstream_gene_variant ESAD-UK 20 33004300 33004300 deletion of <=200bp T - intron_variant ESAD-UK 20 33006392 33006392 single base substitution A G downstream_gene_variant ESAD-UK 20 33006392 33006392 single base substitution A G intron_variant ESAD-UK 20 33008699 33008699 single base substitution G T intron_variant ESAD-UK 20 33011418 33011418 deletion of <=200bp T - intron_variant ESAD-UK 20 33012365 33012365 single base substitution G A intron_variant ESAD-UK 20 33013553 33013555 deletion of <=200bp CTT - intron_variant ESAD-UK 20 33014245 33014245 single base substitution T G intron_variant ESAD-UK 20 33014579 33014579 single base substitution G T intron_variant ESAD-UK 20 33015825 33015825 single base substitution C T intron_variant ESAD-UK 20 33018241 33018241 single base substitution T A intron_variant ESAD-UK 20 33020583 33020583 single base substitution G A intron_variant ESAD-UK 20 33028300 33028300 single base substitution C T intron_variant ESAD-UK 20 33028300 33028300 single base substitution C T upstream_gene_variant ESAD-UK 20 33028608 33028608 single base substitution G A intron_variant ESAD-UK 20 33028608 33028608 single base substitution G A upstream_gene_variant ESAD-UK 20 33030406 33030406 single base substitution C T intron_variant ESAD-UK 20 33030406 33030406 single base substitution C T upstream_gene_variant ESAD-UK 20 33030806 33030806 single base substitution C T intron_variant ESAD-UK 20 33030806 33030806 single base substitution C T upstream_gene_variant ESAD-UK 20 33034210 33034210 single base substitution T G intron_variant ESAD-UK 20 33035194 33035194 single base substitution A G intron_variant ESAD-UK 20 33035417 33035417 single base substitution C T intron_variant ESAD-UK 20 33036067 33036067 single base substitution G A intron_variant ESAD-UK 20 33038488 33038488 single base substitution C T intron_variant ESAD-UK 20 33040992 33040992 single base substitution T G intron_variant ESAD-UK 20 33041003 33041003 single base substitution T G intron_variant ESAD-UK 20 33042712 33042712 single base substitution G A intron_variant ESAD-UK 20 33044725 33044725 single base substitution A G intron_variant ESAD-UK 20 33048611 33048611 single base substitution C T intron_variant ESAD-UK 20 33049856 33049856 single base substitution C G intron_variant ESAD-UK 20 33050067 33050067 single base substitution G A intron_variant ESAD-UK 20 33050473 33050473 single base substitution G A intron_variant ESAD-UK 20 33051276 33051276 single base substitution A G intron_variant ESAD-UK 20 33053089 33053089 single base substitution G C intron_variant ESAD-UK 20 33053319 33053319 single base substitution T C intron_variant ESAD-UK 20 33053847 33053847 single base substitution T C intron_variant ESAD-UK 20 33053986 33053986 deletion of <=200bp T - intron_variant ESAD-UK 20 33056698 33056698 single base substitution A T intron_variant ESAD-UK 20 33056698 33056698 single base substitution A T upstream_gene_variant ESAD-UK 20 33061391 33061391 single base substitution A C intron_variant ESAD-UK 20 33064326 33064326 single base substitution A G intron_variant ESAD-UK 20 33066959 33066959 single base substitution C T intron_variant ESAD-UK 20 33072312 33072312 single base substitution G C downstream_gene_variant ESAD-UK 20 33072312 33072312 single base substitution G C intron_variant ESAD-UK 20 33072535 33072535 single base substitution T C downstream_gene_variant ESAD-UK 20 33072535 33072535 single base substitution T C intron_variant ESAD-UK 20 33073977 33073977 single base substitution G T downstream_gene_variant ESAD-UK 20 33073977 33073977 single base substitution G T intron_variant ESAD-UK 20 33074030 33074030 single base substitution C T intron_variant ESAD-UK 20 33075438 33075438 single base substitution C T intron_variant ESAD-UK 20 33076049 33076049 single base substitution A T intron_variant ESAD-UK 20 33076803 33076803 single base substitution C T intron_variant ESAD-UK 20 33077413 33077413 single base substitution T C intron_variant ESAD-UK 20 33077757 33077757 single base substitution A T intron_variant ESAD-UK 20 33079415 33079415 single base substitution C G intron_variant ESAD-UK 20 33081291 33081291 single base substitution G A intron_variant ESAD-UK 20 33083049 33083049 single base substitution G A intron_variant ESAD-UK 20 33087806 33087806 single base substitution A T intron_variant ESAD-UK 20 33088485 33088485 single base substitution T C intron_variant ESAD-UK 20 33089291 33089291 single base substitution A C intron_variant ESAD-UK 20 33091353 33091353 single base substitution C G intron_variant ESAD-UK 20 33092412 33092412 insertion of <=200bp - T intron_variant ESAD-UK 20 33093527 33093527 single base substitution A C intron_variant ESAD-UK 20 33095298 33095298 single base substitution T G intron_variant ESAD-UK 20 33095505 33095505 single base substitution A C missense_variant N722T 2165A>C ESAD-UK 20 33095505 33095505 single base substitution A C missense_variant N832T 2495A>C ESAD-UK 20 33095505 33095505 single base substitution A C missense_variant N873T 2618A>C ESAD-UK 20 33098080 33098080 single base substitution G A 3_prime_UTR_variant ESAD-UK 20 33098080 33098080 single base substitution G A downstream_gene_variant ESAD-UK 20 33099928 33099931 deletion of <=200bp TTTT - downstream_gene_variant ESAD-UK 20 33102632 33102632 insertion of <=200bp - A downstream_gene_variant ESAD-UK 20 33103890 33103890 single base substitution G A downstream_gene_variant ESCA-CN 20 32957139 32957139 insertion of <=200bp - AAAC intron_variant ESCA-CN 20 32972548 32972548 single base substitution G C intron_variant ESCA-CN 20 32972552 32972552 single base substitution T C intron_variant ESCA-CN 20 32972557 32972557 single base substitution C T intron_variant ESCA-CN 20 33033083 33033083 single base substitution C T intron_variant ESCA-CN 20 33033083 33033083 single base substitution C T upstream_gene_variant GBM-US 20 32981637 32981637 single base substitution A G 5_prime_UTR_variant GBM-US 20 32981637 32981637 single base substitution A G exon_variant GBM-US 20 32981637 32981637 single base substitution A G missense_variant Q7R 20A>G KIRC-US 20 33012330 33012330 single base substitution A C splice_region_variant KIRC-US 20 33026360 33026360 single base substitution A G synonymous_variant S201S 603A>G KIRC-US 20 33026360 33026360 single base substitution A G synonymous_variant S242S 726A>G KIRC-US 20 33026360 33026360 single base substitution A G synonymous_variant S91S 273A>G LAML-KR 20 32972106 32972106 single base substitution G T intron_variant LAML-KR 20 33087412 33087412 single base substitution A T intron_variant LAML-KR 20 33090349 33090349 single base substitution C T intron_variant LGG-US 20 33068913 33068913 single base substitution C T exon_variant LGG-US 20 33068913 33068913 single base substitution C T synonymous_variant S555S 1665C>T LGG-US 20 33068913 33068913 single base substitution C T synonymous_variant S665S 1995C>T LGG-US 20 33068913 33068913 single base substitution C T synonymous_variant S706S 2118C>T LICA-CN 20 33000340 33000340 single base substitution A T 5_prime_UTR_variant LICA-CN 20 33000340 33000340 single base substitution A T exon_variant LICA-CN 20 33000340 33000340 single base substitution A T stop_gained K78* 232A>T LICA-FR 20 32971244 32971244 single base substitution C T intron_variant LICA-FR 20 32972860 32972860 single base substitution G A intron_variant LICA-FR 20 32986571 32986571 single base substitution C A intron_variant LICA-FR 20 32987418 32987418 single base substitution G A intron_variant LICA-FR 20 32991335 32991337 deletion of <=200bp CAA - intron_variant LICA-FR 20 32996946 32996947 deletion of <=200bp CC - intron_variant LICA-FR 20 33006564 33006564 insertion of <=200bp - T downstream_gene_variant LICA-FR 20 33006564 33006564 insertion of <=200bp - T intron_variant LICA-FR 20 33026327 33026327 single base substitution A G synonymous_variant E190E 570A>G LICA-FR 20 33026327 33026327 single base substitution A G synonymous_variant E231E 693A>G LICA-FR 20 33026327 33026327 single base substitution A G synonymous_variant E80E 240A>G LICA-FR 20 33026373 33026373 single base substitution G A missense_variant G206S 616G>A LICA-FR 20 33026373 33026373 single base substitution G A missense_variant G247S 739G>A LICA-FR 20 33026373 33026373 single base substitution G A missense_variant G96S 286G>A LICA-FR 20 33033066 33033066 deletion of <=200bp T - intron_variant LICA-FR 20 33033066 33033066 deletion of <=200bp T - upstream_gene_variant LICA-FR 20 33033066 33033066 insertion of <=200bp - T intron_variant LICA-FR 20 33033066 33033066 insertion of <=200bp - T upstream_gene_variant LICA-FR 20 33043586 33043586 single base substitution A G intron_variant LICA-FR 20 33045962 33045962 single base substitution A G intron_variant LICA-FR 20 33046922 33046922 single base substitution G A intron_variant LICA-FR 20 33049863 33049863 single base substitution A C intron_variant LICA-FR 20 33049998 33049998 single base substitution A G exon_variant LICA-FR 20 33049998 33049998 single base substitution A G missense_variant I356V 1066A>G LICA-FR 20 33049998 33049998 single base substitution A G missense_variant I466V 1396A>G LICA-FR 20 33049998 33049998 single base substitution A G missense_variant I507V 1519A>G LICA-FR 20 33050025 33050025 single base substitution C A missense_variant L365I 1093C>A LICA-FR 20 33050025 33050025 single base substitution C A missense_variant L475I 1423C>A LICA-FR 20 33050025 33050025 single base substitution C A missense_variant L516I 1546C>A LICA-FR 20 33050025 33050025 single base substitution C A splice_region_variant LICA-FR 20 33052898 33052898 deletion of <=200bp C - intron_variant LICA-FR 20 33059024 33059024 single base substitution G A intron_variant LICA-FR 20 33059024 33059024 single base substitution G A upstream_gene_variant LICA-FR 20 33060178 33060178 deletion of <=200bp A - intron_variant LICA-FR 20 33060194 33060194 insertion of <=200bp - AAG intron_variant LICA-FR 20 33065592 33065592 single base substitution C A exon_variant LICA-FR 20 33065592 33065592 single base substitution C A missense_variant P419T 1255C>A LICA-FR 20 33065592 33065592 single base substitution C A missense_variant P529T 1585C>A LICA-FR 20 33065592 33065592 single base substitution C A missense_variant P570T 1708C>A LICA-FR 20 33072090 33072090 single base substitution A T downstream_gene_variant LICA-FR 20 33072090 33072090 single base substitution A T intron_variant LICA-FR 20 33072726 33072726 single base substitution A G downstream_gene_variant LICA-FR 20 33072726 33072726 single base substitution A G intron_variant LICA-FR 20 33074471 33074471 insertion of <=200bp - TTTA intron_variant LICA-FR 20 33083128 33083128 single base substitution G A intron_variant LICA-FR 20 33083853 33083853 single base substitution T A intron_variant LICA-FR 20 33092070 33092070 single base substitution G T intron_variant LINC-JP 20 32950870 32950870 deletion of <=200bp A - upstream_gene_variant LINC-JP 20 32953055 32953055 single base substitution T G intron_variant LINC-JP 20 32956062 32956062 single base substitution T G intron_variant LINC-JP 20 32959609 32959609 single base substitution A G downstream_gene_variant LINC-JP 20 32959609 32959609 single base substitution A G intron_variant LINC-JP 20 32973798 32973798 single base substitution T G intron_variant LINC-JP 20 32998395 32998395 single base substitution T G intron_variant LINC-JP 20 33025659 33025659 single base substitution C G intron_variant LINC-JP 20 33026232 33026232 single base substitution A G intron_variant LINC-JP 20 33027979 33027979 single base substitution A G synonymous_variant P123P 369A>G LINC-JP 20 33027979 33027979 single base substitution A G synonymous_variant P233P 699A>G LINC-JP 20 33027979 33027979 single base substitution A G synonymous_variant P274P 822A>G LINC-JP 20 33034438 33034438 deletion of <=200bp T - intron_variant LINC-JP 20 33050054 33050054 single base substitution G A intron_variant LINC-JP 20 33052188 33052188 single base substitution A G intron_variant LINC-JP 20 33053307 33053307 single base substitution A G intron_variant LINC-JP 20 33054142 33054142 single base substitution A G intron_variant LINC-JP 20 33054150 33054150 single base substitution A G intron_variant LINC-JP 20 33063525 33063525 single base substitution G A intron_variant LINC-JP 20 33063563 33063563 single base substitution C T intron_variant LINC-JP 20 33065105 33065105 single base substitution G T intron_variant LINC-JP 20 33066032 33066032 single base substitution T C intron_variant LINC-JP 20 33069211 33069211 single base substitution C T downstream_gene_variant LINC-JP 20 33069211 33069211 single base substitution C T intron_variant LINC-JP 20 33071307 33071307 single base substitution G A downstream_gene_variant LINC-JP 20 33071307 33071307 single base substitution G A intron_variant LINC-JP 20 33075758 33075758 single base substitution A G intron_variant LINC-JP 20 33077068 33077068 single base substitution C T splice_region_variant LINC-JP 20 33086971 33086971 single base substitution G T intron_variant LINC-JP 20 33087030 33087030 single base substitution T C intron_variant LINC-JP 20 33089534 33089534 single base substitution C G intron_variant LINC-JP 20 33090038 33090038 single base substitution T C intron_variant LINC-JP 20 33092099 33092099 single base substitution A G intron_variant LINC-JP 20 33092445 33092445 single base substitution A G intron_variant LINC-JP 20 33098836 33098836 single base substitution T A 3_prime_UTR_variant LINC-JP 20 33098836 33098836 single base substitution T A downstream_gene_variant LIRI-JP 20 32951931 32951931 single base substitution G T intron_variant LIRI-JP 20 32955300 32955300 single base substitution C G intron_variant LIRI-JP 20 32957104 32957104 single base substitution A G intron_variant LIRI-JP 20 32959803 32959803 single base substitution T A downstream_gene_variant LIRI-JP 20 32959803 32959803 single base substitution T A intron_variant LIRI-JP 20 32961543 32961543 single base substitution A G downstream_gene_variant LIRI-JP 20 32961543 32961543 single base substitution A G intron_variant LIRI-JP 20 32965946 32965946 single base substitution A G intron_variant LIRI-JP 20 32966211 32966211 single base substitution A G intron_variant LIRI-JP 20 32967074 32967074 single base substitution C A intron_variant LIRI-JP 20 32968343 32968343 single base substitution A G intron_variant LIRI-JP 20 32968890 32968890 single base substitution G C intron_variant LIRI-JP 20 32970470 32970470 single base substitution T G intron_variant LIRI-JP 20 32970676 32970676 single base substitution A G intron_variant LIRI-JP 20 32971487 32971487 single base substitution A G intron_variant LIRI-JP 20 32972887 32972887 single base substitution C G intron_variant LIRI-JP 20 32972888 32972888 single base substitution T C intron_variant LIRI-JP 20 32975817 32975817 single base substitution G A intron_variant LIRI-JP 20 32975827 32975827 single base substitution G A intron_variant LIRI-JP 20 32975893 32975893 single base substitution G T intron_variant LIRI-JP 20 32978235 32978235 single base substitution T A intron_variant LIRI-JP 20 32979063 32979063 single base substitution A G intron_variant LIRI-JP 20 32980517 32980517 single base substitution A G intron_variant LIRI-JP 20 32982342 32982342 single base substitution C G intron_variant LIRI-JP 20 32982583 32982583 single base substitution G A intron_variant LIRI-JP 20 32987636 32987636 single base substitution A G intron_variant LIRI-JP 20 32989308 32989309 deletion of <=200bp TC - intron_variant LIRI-JP 20 32992845 32992845 single base substitution T A intron_variant LIRI-JP 20 32993984 32993984 single base substitution C G intron_variant LIRI-JP 20 32995934 32995934 single base substitution A T intron_variant LIRI-JP 20 32997536 32997536 single base substitution G T intron_variant LIRI-JP 20 32998516 32998516 single base substitution G T intron_variant LIRI-JP 20 32998939 32998940 deletion of <=200bp TT - intron_variant LIRI-JP 20 32999703 32999703 single base substitution A G intron_variant LIRI-JP 20 32999761 32999761 single base substitution A G intron_variant LIRI-JP 20 33000130 33000130 single base substitution G T intron_variant LIRI-JP 20 33000378 33000378 single base substitution A G 5_prime_UTR_variant LIRI-JP 20 33000378 33000378 single base substitution A G exon_variant LIRI-JP 20 33000378 33000378 single base substitution A G synonymous_variant K90K 270A>G LIRI-JP 20 33002044 33002044 deletion of <=200bp A - downstream_gene_variant LIRI-JP 20 33002044 33002044 deletion of <=200bp A - intron_variant LIRI-JP 20 33004637 33004655 deletion of <=200bp GGTGTTTTCCTTCAATGAA - downstream_gene_variant LIRI-JP 20 33004637 33004655 deletion of <=200bp GGTGTTTTCCTTCAATGAA - intron_variant LIRI-JP 20 33007079 33007079 single base substitution A G intron_variant LIRI-JP 20 33007888 33007888 single base substitution A G intron_variant LIRI-JP 20 33015039 33015039 single base substitution T G intron_variant LIRI-JP 20 33015271 33015271 single base substitution A G intron_variant LIRI-JP 20 33015843 33015843 single base substitution C T intron_variant LIRI-JP 20 33017186 33017186 single base substitution A G intron_variant LIRI-JP 20 33017254 33017254 single base substitution A G intron_variant LIRI-JP 20 33017574 33017574 single base substitution T G intron_variant LIRI-JP 20 33018106 33018106 single base substitution C G intron_variant LIRI-JP 20 33021175 33021175 single base substitution G T intron_variant LIRI-JP 20 33021702 33021702 single base substitution G T intron_variant LIRI-JP 20 33021703 33021703 single base substitution G T intron_variant LIRI-JP 20 33023177 33023177 single base substitution A G intron_variant LIRI-JP 20 33025041 33025041 single base substitution T G intron_variant LIRI-JP 20 33025252 33025252 single base substitution A C intron_variant LIRI-JP 20 33025461 33025461 single base substitution A G intron_variant LIRI-JP 20 33026620 33026620 single base substitution G A intron_variant LIRI-JP 20 33027862 33027862 single base substitution A G intron_variant LIRI-JP 20 33027968 33027968 single base substitution A T missense_variant N120Y 358A>T LIRI-JP 20 33027968 33027968 single base substitution A T missense_variant N230Y 688A>T LIRI-JP 20 33027968 33027968 single base substitution A T missense_variant N271Y 811A>T LIRI-JP 20 33028802 33028802 single base substitution A G intron_variant LIRI-JP 20 33028802 33028802 single base substitution A G upstream_gene_variant LIRI-JP 20 33028846 33028846 single base substitution C T intron_variant LIRI-JP 20 33028846 33028846 single base substitution C T upstream_gene_variant LIRI-JP 20 33029110 33029110 single base substitution G C intron_variant LIRI-JP 20 33029110 33029110 single base substitution G C upstream_gene_variant LIRI-JP 20 33029703 33029703 single base substitution T C intron_variant LIRI-JP 20 33029703 33029703 single base substitution T C upstream_gene_variant LIRI-JP 20 33030010 33030010 single base substitution A G splice_region_variant LIRI-JP 20 33030010 33030010 single base substitution A G upstream_gene_variant LIRI-JP 20 33030135 33030135 single base substitution A G intron_variant LIRI-JP 20 33030135 33030135 single base substitution A G upstream_gene_variant LIRI-JP 20 33030928 33030928 single base substitution A C intron_variant LIRI-JP 20 33030928 33030928 single base substitution A C upstream_gene_variant LIRI-JP 20 33031502 33031502 single base substitution T G intron_variant LIRI-JP 20 33031502 33031502 single base substitution T G upstream_gene_variant LIRI-JP 20 33033991 33033991 single base substitution A T intron_variant LIRI-JP 20 33034589 33034589 single base substitution G A intron_variant LIRI-JP 20 33034935 33034935 single base substitution G T intron_variant LIRI-JP 20 33036293 33036293 single base substitution A G intron_variant LIRI-JP 20 33037576 33037576 single base substitution A G intron_variant LIRI-JP 20 33039042 33039042 single base substitution C T intron_variant LIRI-JP 20 33039510 33039510 single base substitution A G intron_variant LIRI-JP 20 33040120 33040120 single base substitution A T intron_variant LIRI-JP 20 33041324 33041324 single base substitution C G intron_variant LIRI-JP 20 33043618 33043618 single base substitution T C intron_variant LIRI-JP 20 33044812 33044812 single base substitution A G intron_variant LIRI-JP 20 33044891 33044891 single base substitution G T intron_variant LIRI-JP 20 33046729 33046729 single base substitution A G intron_variant LIRI-JP 20 33047449 33047449 single base substitution A G intron_variant LIRI-JP 20 33048745 33048745 single base substitution G A intron_variant LIRI-JP 20 33050538 33050538 single base substitution A G intron_variant LIRI-JP 20 33050826 33050826 single base substitution T G intron_variant LIRI-JP 20 33052609 33052609 single base substitution G T intron_variant LIRI-JP 20 33052871 33052871 single base substitution A T intron_variant LIRI-JP 20 33055005 33055005 single base substitution A G intron_variant LIRI-JP 20 33055005 33055005 single base substitution A G upstream_gene_variant LIRI-JP 20 33056742 33056742 single base substitution T G intron_variant LIRI-JP 20 33056742 33056742 single base substitution T G upstream_gene_variant LIRI-JP 20 33056843 33056843 single base substitution A G intron_variant LIRI-JP 20 33056843 33056843 single base substitution A G upstream_gene_variant LIRI-JP 20 33056870 33056870 single base substitution C A intron_variant LIRI-JP 20 33056870 33056870 single base substitution C A upstream_gene_variant LIRI-JP 20 33058036 33058036 single base substitution C T intron_variant LIRI-JP 20 33058036 33058036 single base substitution C T upstream_gene_variant LIRI-JP 20 33058093 33058093 single base substitution A C intron_variant LIRI-JP 20 33058093 33058093 single base substitution A C upstream_gene_variant LIRI-JP 20 33059676 33059676 single base substitution A G intron_variant LIRI-JP 20 33060830 33060830 single base substitution T G intron_variant LIRI-JP 20 33060893 33060893 single base substitution C A intron_variant LIRI-JP 20 33060930 33060930 single base substitution A C intron_variant LIRI-JP 20 33065074 33065074 single base substitution G A intron_variant LIRI-JP 20 33066609 33066609 single base substitution T G intron_variant LIRI-JP 20 33066729 33066729 single base substitution A G intron_variant LIRI-JP 20 33067331 33067331 single base substitution A G intron_variant LIRI-JP 20 33067969 33067969 single base substitution G T intron_variant LIRI-JP 20 33068472 33068472 single base substitution A C exon_variant LIRI-JP 20 33068472 33068472 single base substitution A C missense_variant K519N 1557A>C LIRI-JP 20 33068472 33068472 single base substitution A C missense_variant K629N 1887A>C LIRI-JP 20 33068472 33068472 single base substitution A C missense_variant K670N 2010A>C LIRI-JP 20 33068646 33068653 deletion of <=200bp TGATCTAT - intron_variant LIRI-JP 20 33068995 33068995 single base substitution A T downstream_gene_variant LIRI-JP 20 33068995 33068995 single base substitution A T stop_gained K583* 1747A>T LIRI-JP 20 33068995 33068995 single base substitution A T stop_gained K693* 2077A>T LIRI-JP 20 33068995 33068995 single base substitution A T stop_gained K734* 2200A>T LIRI-JP 20 33069207 33069207 single base substitution C T downstream_gene_variant LIRI-JP 20 33069207 33069207 single base substitution C T intron_variant LIRI-JP 20 33069323 33069323 single base substitution A G downstream_gene_variant LIRI-JP 20 33069323 33069323 single base substitution A G intron_variant LIRI-JP 20 33070221 33070221 single base substitution G T downstream_gene_variant LIRI-JP 20 33070221 33070221 single base substitution G T intron_variant LIRI-JP 20 33070222 33070222 single base substitution G T downstream_gene_variant LIRI-JP 20 33070222 33070222 single base substitution G T intron_variant LIRI-JP 20 33070968 33070968 single base substitution G A downstream_gene_variant LIRI-JP 20 33070968 33070968 single base substitution G A intron_variant LIRI-JP 20 33072723 33072723 single base substitution C A downstream_gene_variant LIRI-JP 20 33072723 33072723 single base substitution C A intron_variant LIRI-JP 20 33072922 33072922 single base substitution A G downstream_gene_variant LIRI-JP 20 33072922 33072922 single base substitution A G intron_variant LIRI-JP 20 33072970 33072970 single base substitution A G downstream_gene_variant LIRI-JP 20 33072970 33072970 single base substitution A G intron_variant LIRI-JP 20 33075040 33075040 single base substitution A G intron_variant LIRI-JP 20 33076907 33076907 single base substitution A T intron_variant LIRI-JP 20 33078378 33078378 single base substitution G A intron_variant LIRI-JP 20 33079072 33079072 single base substitution A G intron_variant LIRI-JP 20 33079945 33079948 deletion of <=200bp AAGG - intron_variant LIRI-JP 20 33080044 33080044 single base substitution A G intron_variant LIRI-JP 20 33082491 33082491 single base substitution C G intron_variant LIRI-JP 20 33084378 33084378 single base substitution A C intron_variant LIRI-JP 20 33084448 33084448 single base substitution A C intron_variant LIRI-JP 20 33084936 33084936 single base substitution G A intron_variant LIRI-JP 20 33085901 33085901 single base substitution A G intron_variant LIRI-JP 20 33086969 33086969 single base substitution C T intron_variant LIRI-JP 20 33087683 33087683 single base substitution A G intron_variant LIRI-JP 20 33087780 33087780 single base substitution A G intron_variant LIRI-JP 20 33089918 33089918 single base substitution G T intron_variant LIRI-JP 20 33092204 33092204 single base substitution A G missense_variant T719A 2155A>G LIRI-JP 20 33092204 33092204 single base substitution A G missense_variant T829A 2485A>G LIRI-JP 20 33092204 33092204 single base substitution A G missense_variant T870A 2608A>G LIRI-JP 20 33093766 33093766 single base substitution G A intron_variant LIRI-JP 20 33094216 33094216 single base substitution C T intron_variant LIRI-JP 20 33095939 33095939 single base substitution T G 3_prime_UTR_variant LIRI-JP 20 33095939 33095939 single base substitution T G downstream_gene_variant LIRI-JP 20 33099935 33099935 single base substitution A G downstream_gene_variant LIRI-JP 20 33100117 33100117 single base substitution A G downstream_gene_variant LIRI-JP 20 33100240 33100240 single base substitution T A downstream_gene_variant LIRI-JP 20 33102001 33102001 single base substitution C T downstream_gene_variant LIRI-JP 20 33102405 33102405 single base substitution G T downstream_gene_variant LIRI-JP 20 33102406 33102406 single base substitution C T downstream_gene_variant LIRI-JP 20 33102642 33102642 single base substitution C A downstream_gene_variant LUSC-KR 20 32950002 32950002 single base substitution G T upstream_gene_variant LUSC-KR 20 32957216 32957216 single base substitution G A 5_prime_UTR_variant LUSC-KR 20 32957216 32957216 single base substitution G A exon_variant LUSC-KR 20 32957344 32957344 single base substitution C T exon_variant LUSC-KR 20 32957344 32957344 single base substitution C T intron_variant LUSC-KR 20 32960822 32960822 single base substitution C T downstream_gene_variant LUSC-KR 20 32960822 32960822 single base substitution C T intron_variant LUSC-KR 20 32963184 32963184 single base substitution A C intron_variant LUSC-KR 20 32966303 32966303 single base substitution T A intron_variant LUSC-KR 20 32970268 32970268 single base substitution A T intron_variant LUSC-KR 20 32977895 32977895 single base substitution C T intron_variant LUSC-KR 20 32984212 32984212 single base substitution A G intron_variant LUSC-KR 20 32986996 32986996 single base substitution C T intron_variant LUSC-KR 20 32987460 32987460 single base substitution A G intron_variant LUSC-KR 20 32989269 32989269 single base substitution C G intron_variant LUSC-KR 20 32990050 32990050 single base substitution G T intron_variant LUSC-KR 20 32990274 32990274 single base substitution T G intron_variant LUSC-KR 20 32994424 32994424 single base substitution T A intron_variant LUSC-KR 20 32994533 32994533 single base substitution G T intron_variant LUSC-KR 20 32995161 32995161 single base substitution C T intron_variant LUSC-KR 20 32996689 32996689 single base substitution G T intron_variant LUSC-KR 20 32996698 32996698 single base substitution G T intron_variant LUSC-KR 20 32997536 32997536 single base substitution G T intron_variant LUSC-KR 20 33003290 33003290 single base substitution G T downstream_gene_variant LUSC-KR 20 33003290 33003290 single base substitution G T intron_variant LUSC-KR 20 33006118 33006118 single base substitution C G downstream_gene_variant LUSC-KR 20 33006118 33006118 single base substitution C G intron_variant LUSC-KR 20 33006548 33006548 single base substitution C T downstream_gene_variant LUSC-KR 20 33006548 33006548 single base substitution C T intron_variant LUSC-KR 20 33006826 33006826 single base substitution C T intron_variant LUSC-KR 20 33007491 33007491 single base substitution C G intron_variant LUSC-KR 20 33009822 33009822 single base substitution A C intron_variant LUSC-KR 20 33011615 33011615 single base substitution G A intron_variant LUSC-KR 20 33014143 33014143 single base substitution G A intron_variant LUSC-KR 20 33018704 33018704 single base substitution G T intron_variant LUSC-KR 20 33018807 33018807 single base substitution G C intron_variant LUSC-KR 20 33019006 33019006 single base substitution G T intron_variant LUSC-KR 20 33019293 33019293 single base substitution G C intron_variant LUSC-KR 20 33019414 33019414 single base substitution G C intron_variant LUSC-KR 20 33019693 33019693 single base substitution G A intron_variant LUSC-KR 20 33020845 33020845 single base substitution C T intron_variant LUSC-KR 20 33023341 33023341 single base substitution C G intron_variant LUSC-KR 20 33023437 33023437 single base substitution C G intron_variant LUSC-KR 20 33023935 33023935 single base substitution C G intron_variant LUSC-KR 20 33028673 33028673 single base substitution C T intron_variant LUSC-KR 20 33028673 33028673 single base substitution C T upstream_gene_variant LUSC-KR 20 33028823 33028823 single base substitution A T intron_variant LUSC-KR 20 33028823 33028823 single base substitution A T upstream_gene_variant LUSC-KR 20 33035497 33035497 single base substitution G T intron_variant LUSC-KR 20 33043534 33043534 single base substitution C A intron_variant LUSC-KR 20 33050426 33050426 single base substitution G T intron_variant LUSC-KR 20 33056953 33056953 single base substitution T A intron_variant LUSC-KR 20 33056953 33056953 single base substitution T A upstream_gene_variant LUSC-KR 20 33065464 33065464 single base substitution C T intron_variant LUSC-KR 20 33065747 33065747 single base substitution C G intron_variant LUSC-KR 20 33065778 33065778 single base substitution C G intron_variant LUSC-KR 20 33066725 33066725 single base substitution C T intron_variant LUSC-KR 20 33066828 33066828 single base substitution C T intron_variant LUSC-KR 20 33068032 33068032 single base substitution C G intron_variant LUSC-KR 20 33068203 33068203 single base substitution C G intron_variant LUSC-KR 20 33068248 33068248 single base substitution C T intron_variant LUSC-KR 20 33068276 33068276 single base substitution G C intron_variant LUSC-KR 20 33068563 33068563 single base substitution A T intron_variant LUSC-KR 20 33068929 33068929 single base substitution C T exon_variant LUSC-KR 20 33068929 33068929 single base substitution C T synonymous_variant L561L 1681C>T LUSC-KR 20 33068929 33068929 single base substitution C T synonymous_variant L671L 2011C>T LUSC-KR 20 33068929 33068929 single base substitution C T synonymous_variant L712L 2134C>T LUSC-KR 20 33076140 33076140 single base substitution T A intron_variant LUSC-KR 20 33076148 33076148 single base substitution C T intron_variant LUSC-KR 20 33076524 33076524 single base substitution C A intron_variant LUSC-KR 20 33082619 33082619 single base substitution C T intron_variant LUSC-KR 20 33083640 33083640 single base substitution G A intron_variant LUSC-KR 20 33084911 33084911 single base substitution C G intron_variant LUSC-KR 20 33087271 33087271 single base substitution G T intron_variant LUSC-KR 20 33089970 33089970 single base substitution G A intron_variant LUSC-KR 20 33091689 33091689 single base substitution G T intron_variant LUSC-KR 20 33092520 33092520 single base substitution G A intron_variant LUSC-KR 20 33092623 33092623 single base substitution G C intron_variant LUSC-KR 20 33101757 33101757 single base substitution T C downstream_gene_variant LUSC-US 20 33067442 33067442 single base substitution T A exon_variant LUSC-US 20 33067442 33067442 single base substitution T A intron_variant LUSC-US 20 33067442 33067442 single base substitution T A missense_variant F446I 1336T>A LUSC-US 20 33067442 33067442 single base substitution T A missense_variant F556I 1666T>A LUSC-US 20 33067442 33067442 single base substitution T A missense_variant F597I 1789T>A LUSC-US 20 33068455 33068455 single base substitution A G exon_variant LUSC-US 20 33068455 33068455 single base substitution A G missense_variant K514E 1540A>G LUSC-US 20 33068455 33068455 single base substitution A G missense_variant K624E 1870A>G LUSC-US 20 33068455 33068455 single base substitution A G missense_variant K665E 1993A>G MALY-DE 20 32948012 32948012 single base substitution A G upstream_gene_variant MALY-DE 20 32964358 32964358 single base substitution A T intron_variant MALY-DE 20 32975831 32975831 single base substitution C G intron_variant MALY-DE 20 32983844 32983844 single base substitution T A intron_variant MALY-DE 20 32984089 32984089 single base substitution C G intron_variant MALY-DE 20 32995953 32995953 single base substitution C G intron_variant MALY-DE 20 33005554 33005554 single base substitution G A downstream_gene_variant MALY-DE 20 33005554 33005554 single base substitution G A intron_variant MALY-DE 20 33011612 33011612 single base substitution T G intron_variant MALY-DE 20 33013260 33013260 single base substitution G A intron_variant MALY-DE 20 33018318 33018318 single base substitution C T intron_variant MALY-DE 20 33019989 33019989 single base substitution C T intron_variant MALY-DE 20 33020817 33020817 single base substitution C T intron_variant MALY-DE 20 33029997 33029997 single base substitution T C intron_variant MALY-DE 20 33029997 33029997 single base substitution T C upstream_gene_variant MALY-DE 20 33030316 33030316 single base substitution T G intron_variant MALY-DE 20 33030316 33030316 single base substitution T G upstream_gene_variant MALY-DE 20 33030335 33030335 single base substitution T A intron_variant MALY-DE 20 33030335 33030335 single base substitution T A upstream_gene_variant MALY-DE 20 33030349 33030349 single base substitution C A intron_variant MALY-DE 20 33030349 33030349 single base substitution C A upstream_gene_variant MALY-DE 20 33032573 33032573 single base substitution G A intron_variant MALY-DE 20 33032573 33032573 single base substitution G A upstream_gene_variant MALY-DE 20 33039151 33039151 single base substitution G A intron_variant MALY-DE 20 33049848 33049848 single base substitution A G intron_variant MALY-DE 20 33058248 33058248 single base substitution T C intron_variant MALY-DE 20 33058248 33058248 single base substitution T C upstream_gene_variant MALY-DE 20 33074469 33074469 single base substitution A T intron_variant MALY-DE 20 33075956 33075956 insertion of <=200bp - T intron_variant MALY-DE 20 33083922 33083923 deletion of <=200bp AA - intron_variant MALY-DE 20 33100676 33100676 single base substitution C T downstream_gene_variant MELA-AU 20 32946218 32946218 single base substitution C T upstream_gene_variant MELA-AU 20 32946233 32946233 single base substitution C T upstream_gene_variant MELA-AU 20 32946741 32946741 single base substitution C T upstream_gene_variant MELA-AU 20 32946923 32946923 single base substitution C T upstream_gene_variant MELA-AU 20 32946932 32946932 deletion of <=200bp C - upstream_gene_variant MELA-AU 20 32947064 32947064 single base substitution G A upstream_gene_variant MELA-AU 20 32947131 32947131 single base substitution C T upstream_gene_variant MELA-AU 20 32947301 32947301 single base substitution A T upstream_gene_variant MELA-AU 20 32947345 32947345 single base substitution C T upstream_gene_variant MELA-AU 20 32947893 32947893 single base substitution G A upstream_gene_variant MELA-AU 20 32948207 32948207 single base substitution G A upstream_gene_variant MELA-AU 20 32948349 32948349 single base substitution C T upstream_gene_variant MELA-AU 20 32948355 32948355 single base substitution C T upstream_gene_variant MELA-AU 20 32948565 32948565 single base substitution G A upstream_gene_variant MELA-AU 20 32948664 32948664 single base substitution C T upstream_gene_variant MELA-AU 20 32948984 32948984 single base substitution C T upstream_gene_variant MELA-AU 20 32949148 32949148 single base substitution C G upstream_gene_variant MELA-AU 20 32949362 32949362 single base substitution G A upstream_gene_variant MELA-AU 20 32949413 32949413 single base substitution G A upstream_gene_variant MELA-AU 20 32949492 32949492 single base substitution G A upstream_gene_variant MELA-AU 20 32950045 32950045 single base substitution G A upstream_gene_variant MELA-AU 20 32950995 32950996 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 20 32951039 32951039 single base substitution C T upstream_gene_variant MELA-AU 20 32952034 32952034 single base substitution C T intron_variant MELA-AU 20 32952551 32952551 single base substitution C T intron_variant MELA-AU 20 32952589 32952589 single base substitution A T intron_variant MELA-AU 20 32952768 32952768 single base substitution G A intron_variant MELA-AU 20 32953230 32953230 single base substitution C T intron_variant MELA-AU 20 32953443 32953443 single base substitution G A intron_variant MELA-AU 20 32953564 32953564 single base substitution C T intron_variant MELA-AU 20 32953615 32953615 single base substitution C T intron_variant MELA-AU 20 32953982 32953982 single base substitution G A intron_variant MELA-AU 20 32954556 32954556 single base substitution G A intron_variant MELA-AU 20 32957508 32957508 single base substitution C T downstream_gene_variant MELA-AU 20 32957508 32957508 single base substitution C T intron_variant MELA-AU 20 32957903 32957903 single base substitution C T downstream_gene_variant MELA-AU 20 32957903 32957903 single base substitution C T intron_variant MELA-AU 20 32958669 32958669 single base substitution T G downstream_gene_variant MELA-AU 20 32958669 32958669 single base substitution T G intron_variant MELA-AU 20 32960080 32960080 single base substitution C T downstream_gene_variant MELA-AU 20 32960080 32960080 single base substitution C T intron_variant MELA-AU 20 32960310 32960310 single base substitution C T downstream_gene_variant MELA-AU 20 32960310 32960310 single base substitution C T intron_variant MELA-AU 20 32960600 32960600 single base substitution C T downstream_gene_variant MELA-AU 20 32960600 32960600 single base substitution C T intron_variant MELA-AU 20 32960840 32960840 single base substitution G C downstream_gene_variant MELA-AU 20 32960840 32960840 single base substitution G C intron_variant MELA-AU 20 32962046 32962046 single base substitution C T downstream_gene_variant MELA-AU 20 32962046 32962046 single base substitution C T intron_variant MELA-AU 20 32964742 32964742 single base substitution G A intron_variant MELA-AU 20 32965340 32965340 single base substitution C T intron_variant MELA-AU 20 32965564 32965565 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 20 32965605 32965605 single base substitution C T intron_variant MELA-AU 20 32966196 32966196 single base substitution C T intron_variant MELA-AU 20 32967231 32967231 single base substitution C G intron_variant MELA-AU 20 32968065 32968065 single base substitution T A intron_variant MELA-AU 20 32968501 32968502 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 20 32968502 32968502 single base substitution C T intron_variant MELA-AU 20 32968594 32968594 single base substitution C T intron_variant MELA-AU 20 32968684 32968684 single base substitution C T intron_variant MELA-AU 20 32968853 32968853 single base substitution C T intron_variant MELA-AU 20 32970841 32970841 single base substitution C T intron_variant MELA-AU 20 32971918 32971918 single base substitution T C intron_variant MELA-AU 20 32972179 32972179 single base substitution C A intron_variant MELA-AU 20 32972409 32972409 single base substitution A C intron_variant MELA-AU 20 32972434 32972434 single base substitution G A intron_variant MELA-AU 20 32972701 32972701 single base substitution C T intron_variant MELA-AU 20 32973694 32973695 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 20 32973823 32973823 single base substitution C T intron_variant MELA-AU 20 32973949 32973949 single base substitution C A intron_variant MELA-AU 20 32974016 32974016 single base substitution A G intron_variant MELA-AU 20 32974575 32974575 single base substitution C T intron_variant MELA-AU 20 32974849 32974849 single base substitution C T intron_variant MELA-AU 20 32974991 32974991 single base substitution C T intron_variant MELA-AU 20 32975702 32975702 single base substitution G A intron_variant MELA-AU 20 32975823 32975823 single base substitution A G intron_variant MELA-AU 20 32975834 32975834 single base substitution C T intron_variant MELA-AU 20 32976573 32976573 single base substitution G T intron_variant MELA-AU 20 32977175 32977175 single base substitution T A intron_variant MELA-AU 20 32979067 32979067 single base substitution C A intron_variant MELA-AU 20 32979069 32979070 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 20 32979294 32979294 single base substitution A T intron_variant MELA-AU 20 32980496 32980496 single base substitution T C intron_variant MELA-AU 20 32980813 32980813 single base substitution C T intron_variant MELA-AU 20 32981727 32981727 single base substitution C T intron_variant MELA-AU 20 32982197 32982197 single base substitution T C intron_variant MELA-AU 20 32982430 32982430 single base substitution C T intron_variant MELA-AU 20 32982641 32982641 single base substitution C T intron_variant MELA-AU 20 32982670 32982670 single base substitution G A intron_variant MELA-AU 20 32983190 32983190 single base substitution C T intron_variant MELA-AU 20 32983642 32983642 single base substitution C T intron_variant MELA-AU 20 32983844 32983844 single base substitution T A intron_variant MELA-AU 20 32983883 32983883 single base substitution A G intron_variant MELA-AU 20 32984177 32984178 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 20 32984717 32984717 single base substitution C T intron_variant MELA-AU 20 32984734 32984734 single base substitution C T intron_variant MELA-AU 20 32985430 32985430 single base substitution A G intron_variant MELA-AU 20 32985767 32985767 single base substitution T C intron_variant MELA-AU 20 32986240 32986240 single base substitution C T intron_variant MELA-AU 20 32986538 32986538 single base substitution T G intron_variant MELA-AU 20 32987122 32987122 single base substitution C T intron_variant MELA-AU 20 32987174 32987174 single base substitution G A intron_variant MELA-AU 20 32987430 32987430 single base substitution C T intron_variant MELA-AU 20 32988630 32988630 single base substitution C T intron_variant MELA-AU 20 32988686 32988686 single base substitution C T intron_variant MELA-AU 20 32989007 32989007 single base substitution C T intron_variant MELA-AU 20 32989173 32989173 single base substitution C T intron_variant MELA-AU 20 32990232 32990232 single base substitution C T intron_variant MELA-AU 20 32991049 32991049 single base substitution C T intron_variant MELA-AU 20 32991135 32991135 single base substitution C G intron_variant MELA-AU 20 32992433 32992433 single base substitution T C intron_variant MELA-AU 20 32992453 32992453 single base substitution C T intron_variant MELA-AU 20 32992832 32992833 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 20 32993558 32993558 single base substitution T A intron_variant MELA-AU 20 32993560 32993560 single base substitution A G intron_variant MELA-AU 20 32993676 32993676 single base substitution C T intron_variant MELA-AU 20 32993846 32993846 deletion of <=200bp A - intron_variant MELA-AU 20 32994153 32994153 single base substitution C T intron_variant MELA-AU 20 32994950 32994950 single base substitution C T intron_variant MELA-AU 20 32995462 32995462 single base substitution C T intron_variant MELA-AU 20 32995527 32995527 single base substitution C T intron_variant MELA-AU 20 32996797 32996797 single base substitution C T intron_variant MELA-AU 20 32999724 32999724 single base substitution C T intron_variant MELA-AU 20 33000042 33000042 single base substitution C T intron_variant MELA-AU 20 33000482 33000482 single base substitution G C intron_variant MELA-AU 20 33001130 33001130 single base substitution C T intron_variant MELA-AU 20 33001221 33001221 single base substitution C T intron_variant MELA-AU 20 33001698 33001698 single base substitution C T downstream_gene_variant MELA-AU 20 33001698 33001698 single base substitution C T intron_variant MELA-AU 20 33001831 33001831 single base substitution C T downstream_gene_variant MELA-AU 20 33001831 33001831 single base substitution C T intron_variant MELA-AU 20 33002856 33002856 single base substitution C T downstream_gene_variant MELA-AU 20 33002856 33002856 single base substitution C T intron_variant MELA-AU 20 33004874 33004874 single base substitution C T downstream_gene_variant MELA-AU 20 33004874 33004874 single base substitution C T intron_variant MELA-AU 20 33005437 33005437 single base substitution C T downstream_gene_variant MELA-AU 20 33005437 33005437 single base substitution C T intron_variant MELA-AU 20 33005803 33005803 single base substitution C T downstream_gene_variant MELA-AU 20 33005803 33005803 single base substitution C T intron_variant MELA-AU 20 33005965 33005965 single base substitution C T downstream_gene_variant MELA-AU 20 33005965 33005965 single base substitution C T intron_variant MELA-AU 20 33006012 33006012 single base substitution C T downstream_gene_variant MELA-AU 20 33006012 33006012 single base substitution C T intron_variant MELA-AU 20 33006212 33006212 single base substitution C T downstream_gene_variant MELA-AU 20 33006212 33006212 single base substitution C T intron_variant MELA-AU 20 33006691 33006691 single base substitution C T intron_variant MELA-AU 20 33007150 33007150 single base substitution C T intron_variant MELA-AU 20 33007396 33007396 single base substitution T A intron_variant MELA-AU 20 33007736 33007736 single base substitution T A intron_variant MELA-AU 20 33008095 33008095 single base substitution T C intron_variant MELA-AU 20 33008575 33008575 single base substitution T A intron_variant MELA-AU 20 33009554 33009554 single base substitution C T intron_variant MELA-AU 20 33009562 33009562 single base substitution C T intron_variant MELA-AU 20 33010924 33010924 single base substitution C T intron_variant MELA-AU 20 33011666 33011666 single base substitution C T intron_variant MELA-AU 20 33011864 33011864 single base substitution C T intron_variant MELA-AU 20 33012134 33012134 single base substitution C T intron_variant MELA-AU 20 33012457 33012457 single base substitution G A intron_variant MELA-AU 20 33013301 33013302 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 20 33013348 33013348 single base substitution C T intron_variant MELA-AU 20 33013797 33013797 single base substitution C T intron_variant MELA-AU 20 33013867 33013867 single base substitution C T intron_variant MELA-AU 20 33013940 33013940 single base substitution G A intron_variant MELA-AU 20 33014896 33014896 single base substitution C T intron_variant MELA-AU 20 33015354 33015354 single base substitution G A intron_variant MELA-AU 20 33015693 33015693 single base substitution C T intron_variant MELA-AU 20 33016434 33016434 single base substitution G A intron_variant MELA-AU 20 33017821 33017821 single base substitution C G intron_variant MELA-AU 20 33018075 33018075 single base substitution C T intron_variant MELA-AU 20 33018215 33018215 single base substitution T G intron_variant MELA-AU 20 33019004 33019004 single base substitution C T intron_variant MELA-AU 20 33019567 33019567 single base substitution C T intron_variant MELA-AU 20 33020559 33020559 single base substitution C T intron_variant MELA-AU 20 33021044 33021044 single base substitution C T intron_variant MELA-AU 20 33022980 33022980 single base substitution G T intron_variant MELA-AU 20 33023592 33023592 single base substitution C T intron_variant MELA-AU 20 33024094 33024094 single base substitution A G intron_variant MELA-AU 20 33024249 33024249 single base substitution G T intron_variant MELA-AU 20 33024398 33024398 single base substitution C T intron_variant MELA-AU 20 33025201 33025201 single base substitution C T intron_variant MELA-AU 20 33025728 33025728 single base substitution C T intron_variant MELA-AU 20 33026303 33026303 single base substitution C T synonymous_variant D182D 546C>T MELA-AU 20 33026303 33026303 single base substitution C T synonymous_variant D223D 669C>T MELA-AU 20 33026303 33026303 single base substitution C T synonymous_variant D72D 216C>T MELA-AU 20 33026582 33026582 single base substitution G A intron_variant MELA-AU 20 33026602 33026602 single base substitution C T intron_variant MELA-AU 20 33026918 33026918 single base substitution C T intron_variant MELA-AU 20 33027093 33027093 insertion of <=200bp - T intron_variant MELA-AU 20 33027157 33027157 single base substitution C T intron_variant MELA-AU 20 33028056 33028056 single base substitution G A missense_variant G149E 446G>A MELA-AU 20 33028056 33028056 single base substitution G A missense_variant G259E 776G>A MELA-AU 20 33028056 33028056 single base substitution G A missense_variant G300E 899G>A MELA-AU 20 33028352 33028352 single base substitution C T intron_variant MELA-AU 20 33028352 33028352 single base substitution C T upstream_gene_variant MELA-AU 20 33029570 33029570 deletion of <=200bp C - intron_variant MELA-AU 20 33029570 33029570 deletion of <=200bp C - upstream_gene_variant MELA-AU 20 33030286 33030286 single base substitution C T intron_variant MELA-AU 20 33030286 33030286 single base substitution C T upstream_gene_variant MELA-AU 20 33030458 33030458 single base substitution C T intron_variant MELA-AU 20 33030458 33030458 single base substitution C T upstream_gene_variant MELA-AU 20 33030605 33030605 single base substitution C T intron_variant MELA-AU 20 33030605 33030605 single base substitution C T upstream_gene_variant MELA-AU 20 33031397 33031397 single base substitution C T intron_variant MELA-AU 20 33031397 33031397 single base substitution C T upstream_gene_variant MELA-AU 20 33032115 33032115 single base substitution G A intron_variant MELA-AU 20 33032115 33032115 single base substitution G A upstream_gene_variant MELA-AU 20 33032409 33032409 single base substitution G T intron_variant MELA-AU 20 33032409 33032409 single base substitution G T upstream_gene_variant MELA-AU 20 33032573 33032573 single base substitution G A intron_variant MELA-AU 20 33032573 33032573 single base substitution G A upstream_gene_variant MELA-AU 20 33032667 33032667 single base substitution G A intron_variant MELA-AU 20 33032667 33032667 single base substitution G A upstream_gene_variant MELA-AU 20 33033096 33033096 single base substitution G T stop_gained E214* 640G>T MELA-AU 20 33033096 33033096 single base substitution G T stop_gained E324* 970G>T MELA-AU 20 33033096 33033096 single base substitution G T stop_gained E365* 1093G>T MELA-AU 20 33033096 33033096 single base substitution G T upstream_gene_variant MELA-AU 20 33033807 33033807 single base substitution C T intron_variant MELA-AU 20 33034885 33034885 single base substitution C T intron_variant MELA-AU 20 33035977 33035977 single base substitution G A intron_variant MELA-AU 20 33036051 33036051 single base substitution A T intron_variant MELA-AU 20 33037436 33037436 single base substitution A G intron_variant MELA-AU 20 33037913 33037924 deletion of <=200bp AATTCAGCTTTT - intron_variant MELA-AU 20 33038027 33038027 single base substitution G A intron_variant MELA-AU 20 33038237 33038237 single base substitution T C intron_variant MELA-AU 20 33038318 33038318 single base substitution C T intron_variant MELA-AU 20 33038888 33038888 single base substitution T C intron_variant MELA-AU 20 33038914 33038914 single base substitution G A intron_variant MELA-AU 20 33038964 33038965 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 20 33041773 33041773 single base substitution C T intron_variant MELA-AU 20 33042758 33042758 single base substitution C T intron_variant MELA-AU 20 33043742 33043742 single base substitution C T intron_variant MELA-AU 20 33044263 33044263 single base substitution T A intron_variant MELA-AU 20 33044532 33044532 single base substitution C T intron_variant MELA-AU 20 33044678 33044678 single base substitution C T intron_variant MELA-AU 20 33045229 33045229 single base substitution C T exon_variant MELA-AU 20 33045229 33045229 single base substitution C T synonymous_variant F305F 915C>T MELA-AU 20 33045229 33045229 single base substitution C T synonymous_variant F415F 1245C>T MELA-AU 20 33045229 33045229 single base substitution C T synonymous_variant F456F 1368C>T MELA-AU 20 33045922 33045922 single base substitution G C intron_variant MELA-AU 20 33046169 33046169 single base substitution C T intron_variant MELA-AU 20 33046288 33046288 single base substitution T C intron_variant MELA-AU 20 33046483 33046483 single base substitution G A intron_variant MELA-AU 20 33048507 33048507 single base substitution G A intron_variant MELA-AU 20 33049931 33049932 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 20 33049931 33049932 multiple base substitution (>=2bp and <=200bp) GG AA stop_gained WE333*K MELA-AU 20 33049931 33049932 multiple base substitution (>=2bp and <=200bp) GG AA stop_gained WE443*K MELA-AU 20 33049931 33049932 multiple base substitution (>=2bp and <=200bp) GG AA stop_gained WE484*K MELA-AU 20 33050181 33050181 single base substitution C T intron_variant MELA-AU 20 33050198 33050198 single base substitution C T intron_variant MELA-AU 20 33050387 33050387 single base substitution C T intron_variant MELA-AU 20 33050888 33050888 single base substitution C T intron_variant MELA-AU 20 33051060 33051060 single base substitution C T intron_variant MELA-AU 20 33052146 33052146 single base substitution G A intron_variant MELA-AU 20 33052710 33052710 single base substitution T G intron_variant MELA-AU 20 33053628 33053628 single base substitution T A intron_variant MELA-AU 20 33054058 33054058 single base substitution C A intron_variant MELA-AU 20 33055060 33055060 single base substitution C T intron_variant MELA-AU 20 33055060 33055060 single base substitution C T upstream_gene_variant MELA-AU 20 33055131 33055131 single base substitution C T intron_variant MELA-AU 20 33055131 33055131 single base substitution C T upstream_gene_variant MELA-AU 20 33055587 33055587 single base substitution T C intron_variant MELA-AU 20 33055587 33055587 single base substitution T C upstream_gene_variant MELA-AU 20 33056278 33056278 single base substitution C T intron_variant MELA-AU 20 33056278 33056278 single base substitution C T upstream_gene_variant MELA-AU 20 33058923 33058923 single base substitution C T intron_variant MELA-AU 20 33058923 33058923 single base substitution C T upstream_gene_variant MELA-AU 20 33060239 33060239 single base substitution T C intron_variant MELA-AU 20 33060343 33060344 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 20 33061084 33061084 single base substitution C T intron_variant MELA-AU 20 33061880 33061880 single base substitution A G intron_variant MELA-AU 20 33062144 33062144 single base substitution C T intron_variant MELA-AU 20 33062313 33062313 single base substitution G A intron_variant MELA-AU 20 33062372 33062372 single base substitution C T intron_variant MELA-AU 20 33062615 33062615 single base substitution C T intron_variant MELA-AU 20 33062845 33062845 single base substitution C T intron_variant MELA-AU 20 33063007 33063007 single base substitution C T intron_variant MELA-AU 20 33063205 33063205 single base substitution C T intron_variant MELA-AU 20 33064763 33064763 single base substitution C T intron_variant MELA-AU 20 33064878 33064878 single base substitution C T intron_variant MELA-AU 20 33065249 33065249 single base substitution C T intron_variant MELA-AU 20 33065252 33065252 single base substitution T A intron_variant MELA-AU 20 33065601 33065602 multiple base substitution (>=2bp and <=200bp) CT AA exon_variant MELA-AU 20 33065601 33065602 multiple base substitution (>=2bp and <=200bp) CT AA missense_variant L422K 1264CT>AA MELA-AU 20 33065601 33065602 multiple base substitution (>=2bp and <=200bp) CT AA missense_variant L532K 1594CT>AA MELA-AU 20 33065601 33065602 multiple base substitution (>=2bp and <=200bp) CT AA missense_variant L573K 1717CT>AA MELA-AU 20 33065698 33065698 single base substitution C T exon_variant MELA-AU 20 33065698 33065698 single base substitution C T intron_variant MELA-AU 20 33066268 33066268 single base substitution C T intron_variant MELA-AU 20 33066672 33066672 single base substitution C A intron_variant MELA-AU 20 33067058 33067058 single base substitution G A intron_variant MELA-AU 20 33067724 33067724 single base substitution G T intron_variant MELA-AU 20 33067896 33067896 single base substitution G A intron_variant MELA-AU 20 33068396 33068396 single base substitution T C splice_region_variant MELA-AU 20 33068526 33068526 single base substitution C T exon_variant MELA-AU 20 33068526 33068526 single base substitution C T synonymous_variant L537L 1611C>T MELA-AU 20 33068526 33068526 single base substitution C T synonymous_variant L647L 1941C>T MELA-AU 20 33068526 33068526 single base substitution C T synonymous_variant L688L 2064C>T MELA-AU 20 33068711 33068711 single base substitution C T intron_variant MELA-AU 20 33069082 33069082 single base substitution A G downstream_gene_variant MELA-AU 20 33069082 33069082 single base substitution A G intron_variant MELA-AU 20 33069222 33069223 deletion of <=200bp TT - downstream_gene_variant MELA-AU 20 33069222 33069223 deletion of <=200bp TT - intron_variant MELA-AU 20 33069336 33069336 single base substitution C T downstream_gene_variant MELA-AU 20 33069336 33069336 single base substitution C T intron_variant MELA-AU 20 33069535 33069535 single base substitution C T downstream_gene_variant MELA-AU 20 33069535 33069535 single base substitution C T intron_variant MELA-AU 20 33070701 33070701 single base substitution A G downstream_gene_variant MELA-AU 20 33070701 33070701 single base substitution A G intron_variant MELA-AU 20 33070883 33070883 single base substitution C T downstream_gene_variant MELA-AU 20 33070883 33070883 single base substitution C T intron_variant MELA-AU 20 33071109 33071109 single base substitution C T downstream_gene_variant MELA-AU 20 33071109 33071109 single base substitution C T intron_variant MELA-AU 20 33071159 33071159 single base substitution C T downstream_gene_variant MELA-AU 20 33071159 33071159 single base substitution C T intron_variant MELA-AU 20 33071399 33071399 single base substitution C T downstream_gene_variant MELA-AU 20 33071399 33071399 single base substitution C T intron_variant MELA-AU 20 33071471 33071471 single base substitution C T downstream_gene_variant MELA-AU 20 33071471 33071471 single base substitution C T intron_variant MELA-AU 20 33074225 33074225 single base substitution G A intron_variant MELA-AU 20 33074255 33074255 single base substitution C T intron_variant MELA-AU 20 33074324 33074324 single base substitution T C intron_variant MELA-AU 20 33074859 33074859 single base substitution C T intron_variant MELA-AU 20 33076255 33076255 single base substitution C T intron_variant MELA-AU 20 33076616 33076616 single base substitution G A intron_variant MELA-AU 20 33077214 33077214 single base substitution C T intron_variant MELA-AU 20 33077295 33077295 single base substitution T C intron_variant MELA-AU 20 33077478 33077478 single base substitution G A intron_variant MELA-AU 20 33077620 33077620 single base substitution C T splice_region_variant MELA-AU 20 33078098 33078098 single base substitution C T intron_variant MELA-AU 20 33078628 33078628 single base substitution C T intron_variant MELA-AU 20 33078772 33078772 single base substitution C T intron_variant MELA-AU 20 33079333 33079333 single base substitution G A intron_variant MELA-AU 20 33079888 33079888 single base substitution C T intron_variant MELA-AU 20 33079894 33079894 single base substitution C T intron_variant MELA-AU 20 33079896 33079896 single base substitution A G intron_variant MELA-AU 20 33080230 33080230 single base substitution C T intron_variant MELA-AU 20 33080425 33080425 single base substitution C T intron_variant MELA-AU 20 33080968 33080968 single base substitution T G intron_variant MELA-AU 20 33082008 33082008 single base substitution C T intron_variant MELA-AU 20 33082568 33082568 single base substitution A G intron_variant MELA-AU 20 33082647 33082647 single base substitution C T intron_variant MELA-AU 20 33082686 33082686 single base substitution C T intron_variant MELA-AU 20 33083073 33083080 deletion of <=200bp AAATAAAT - intron_variant MELA-AU 20 33083513 33083513 single base substitution C T intron_variant MELA-AU 20 33083659 33083659 single base substitution C T intron_variant MELA-AU 20 33084562 33084562 single base substitution C T intron_variant MELA-AU 20 33084657 33084658 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 20 33084764 33084764 single base substitution C T intron_variant MELA-AU 20 33084892 33084892 single base substitution C T intron_variant MELA-AU 20 33085033 33085033 single base substitution C T intron_variant MELA-AU 20 33085611 33085611 single base substitution G T intron_variant MELA-AU 20 33085860 33085861 multiple base substitution (>=2bp and <=200bp) CC TA intron_variant MELA-AU 20 33086015 33086015 single base substitution A T intron_variant MELA-AU 20 33088035 33088035 single base substitution T A intron_variant MELA-AU 20 33088181 33088181 single base substitution T C intron_variant MELA-AU 20 33088302 33088302 single base substitution G A intron_variant MELA-AU 20 33088333 33088333 single base substitution C T intron_variant MELA-AU 20 33088454 33088454 single base substitution G A intron_variant MELA-AU 20 33088463 33088463 single base substitution C T intron_variant MELA-AU 20 33088720 33088720 single base substitution C T intron_variant MELA-AU 20 33088925 33088925 single base substitution C T intron_variant MELA-AU 20 33089788 33089788 single base substitution C T intron_variant MELA-AU 20 33089974 33089974 single base substitution C T intron_variant MELA-AU 20 33090237 33090237 single base substitution C T intron_variant MELA-AU 20 33090397 33090397 single base substitution C T intron_variant MELA-AU 20 33090605 33090605 single base substitution C T intron_variant MELA-AU 20 33091111 33091111 single base substitution A C intron_variant MELA-AU 20 33093232 33093232 single base substitution C T intron_variant MELA-AU 20 33093316 33093316 single base substitution C T intron_variant MELA-AU 20 33093346 33093346 single base substitution C T intron_variant MELA-AU 20 33093388 33093388 single base substitution C T intron_variant MELA-AU 20 33093965 33093965 single base substitution C T intron_variant MELA-AU 20 33093989 33093989 single base substitution C T intron_variant MELA-AU 20 33094413 33094413 single base substitution G A intron_variant MELA-AU 20 33094570 33094570 single base substitution C T intron_variant MELA-AU 20 33094577 33094577 single base substitution C T intron_variant MELA-AU 20 33096321 33096321 single base substitution G A 3_prime_UTR_variant MELA-AU 20 33096321 33096321 single base substitution G A downstream_gene_variant MELA-AU 20 33097973 33097973 single base substitution C T 3_prime_UTR_variant MELA-AU 20 33097973 33097973 single base substitution C T downstream_gene_variant MELA-AU 20 33098177 33098177 single base substitution T C 3_prime_UTR_variant MELA-AU 20 33098177 33098177 single base substitution T C downstream_gene_variant MELA-AU 20 33099002 33099002 single base substitution G A 3_prime_UTR_variant MELA-AU 20 33099002 33099002 single base substitution G A downstream_gene_variant MELA-AU 20 33099194 33099194 single base substitution C T 3_prime_UTR_variant MELA-AU 20 33099194 33099194 single base substitution C T downstream_gene_variant MELA-AU 20 33099254 33099254 single base substitution G A downstream_gene_variant MELA-AU 20 33100327 33100327 single base substitution G A downstream_gene_variant MELA-AU 20 33100482 33100483 multiple base substitution (>=2bp and <=200bp) GG TA downstream_gene_variant MELA-AU 20 33100572 33100572 single base substitution C T downstream_gene_variant MELA-AU 20 33101114 33101114 single base substitution G T downstream_gene_variant MELA-AU 20 33101408 33101408 single base substitution C A downstream_gene_variant MELA-AU 20 33101976 33101976 single base substitution C T downstream_gene_variant MELA-AU 20 33103942 33103942 single base substitution C T downstream_gene_variant ORCA-IN 20 32966920 32966920 single base substitution T C intron_variant ORCA-IN 20 32995872 32995872 single base substitution C T intron_variant ORCA-IN 20 33002299 33002299 single base substitution T G downstream_gene_variant ORCA-IN 20 33002299 33002299 single base substitution T G intron_variant ORCA-IN 20 33005341 33005341 single base substitution G A downstream_gene_variant ORCA-IN 20 33005341 33005341 single base substitution G A intron_variant ORCA-IN 20 33020559 33020559 single base substitution C T intron_variant ORCA-IN 20 33020951 33020951 single base substitution C T intron_variant ORCA-IN 20 33027981 33027981 single base substitution C A missense_variant S124Y 371C>A ORCA-IN 20 33027981 33027981 single base substitution C A missense_variant S234Y 701C>A ORCA-IN 20 33027981 33027981 single base substitution C A missense_variant S275Y 824C>A ORCA-IN 20 33027984 33027984 single base substitution C A missense_variant A125D 374C>A ORCA-IN 20 33027984 33027984 single base substitution C A missense_variant A235D 704C>A ORCA-IN 20 33027984 33027984 single base substitution C A missense_variant A276D 827C>A ORCA-IN 20 33029843 33029843 single base substitution G C intron_variant ORCA-IN 20 33029843 33029843 single base substitution G C upstream_gene_variant ORCA-IN 20 33030149 33030149 single base substitution G A intron_variant ORCA-IN 20 33030149 33030149 single base substitution G A upstream_gene_variant ORCA-IN 20 33085195 33085195 single base substitution C G intron_variant OV-AU 20 32952117 32952117 single base substitution G A intron_variant OV-AU 20 32953948 32953948 single base substitution A G intron_variant OV-AU 20 32955768 32955768 single base substitution C T intron_variant OV-AU 20 32958988 32958988 single base substitution A T downstream_gene_variant OV-AU 20 32958988 32958988 single base substitution A T intron_variant OV-AU 20 32958990 32958990 single base substitution A G downstream_gene_variant OV-AU 20 32958990 32958990 single base substitution A G intron_variant OV-AU 20 32959709 32959709 single base substitution C G downstream_gene_variant OV-AU 20 32959709 32959709 single base substitution C G intron_variant OV-AU 20 32978421 32978421 single base substitution A T intron_variant OV-AU 20 32980285 32980285 single base substitution G T intron_variant OV-AU 20 32981650 32981650 single base substitution G A 5_prime_UTR_variant OV-AU 20 32981650 32981650 single base substitution G A exon_variant OV-AU 20 32981650 32981650 single base substitution G A missense_variant M11I 33G>A OV-AU 20 32983227 32983227 single base substitution G A intron_variant OV-AU 20 32986870 32986870 single base substitution T A intron_variant OV-AU 20 33000445 33000445 single base substitution C T missense_variant L113F 337C>T OV-AU 20 33000445 33000445 single base substitution C T missense_variant L3F 7C>T OV-AU 20 33000445 33000445 single base substitution C T splice_region_variant OV-AU 20 33001082 33001082 single base substitution C T intron_variant OV-AU 20 33003088 33003088 single base substitution G A downstream_gene_variant OV-AU 20 33003088 33003088 single base substitution G A intron_variant OV-AU 20 33003369 33003369 single base substitution A G downstream_gene_variant OV-AU 20 33003369 33003369 single base substitution A G intron_variant OV-AU 20 33008176 33008176 single base substitution A T intron_variant OV-AU 20 33008595 33008595 single base substitution G T intron_variant OV-AU 20 33009865 33009865 single base substitution T G intron_variant OV-AU 20 33016444 33016444 single base substitution A C intron_variant OV-AU 20 33028305 33028305 single base substitution A C intron_variant OV-AU 20 33028305 33028305 single base substitution A C upstream_gene_variant OV-AU 20 33032975 33032975 single base substitution A G intron_variant OV-AU 20 33032975 33032975 single base substitution A G upstream_gene_variant OV-AU 20 33036228 33036228 single base substitution A G intron_variant OV-AU 20 33037842 33037842 single base substitution T A intron_variant OV-AU 20 33042336 33042336 single base substitution C A intron_variant OV-AU 20 33050783 33050783 single base substitution A G intron_variant OV-AU 20 33052781 33052781 single base substitution T G intron_variant OV-AU 20 33054428 33054428 single base substitution A G intron_variant OV-AU 20 33054428 33054428 single base substitution A G upstream_gene_variant OV-AU 20 33054958 33054958 single base substitution G C intron_variant OV-AU 20 33054958 33054958 single base substitution G C upstream_gene_variant OV-AU 20 33059957 33059957 single base substitution C T intron_variant OV-AU 20 33060422 33060422 single base substitution G T intron_variant OV-AU 20 33063785 33063785 single base substitution C G intron_variant OV-AU 20 33067177 33067177 single base substitution G A intron_variant OV-AU 20 33068529 33068529 single base substitution C G exon_variant OV-AU 20 33068529 33068529 single base substitution C G missense_variant I538M 1614C>G OV-AU 20 33068529 33068529 single base substitution C G missense_variant I648M 1944C>G OV-AU 20 33068529 33068529 single base substitution C G missense_variant I689M 2067C>G OV-AU 20 33069729 33069729 single base substitution T C downstream_gene_variant OV-AU 20 33069729 33069729 single base substitution T C intron_variant OV-AU 20 33073453 33073453 single base substitution C G downstream_gene_variant OV-AU 20 33073453 33073453 single base substitution C G intron_variant OV-AU 20 33078067 33078067 single base substitution A G intron_variant OV-AU 20 33079336 33079336 single base substitution T C intron_variant OV-AU 20 33096420 33096420 single base substitution A T 3_prime_UTR_variant OV-AU 20 33096420 33096420 single base substitution A T downstream_gene_variant OV-AU 20 33101254 33101254 single base substitution T C downstream_gene_variant OV-AU 20 33102520 33102520 single base substitution C T downstream_gene_variant PACA-AU 20 32946119 32946119 single base substitution C T upstream_gene_variant PACA-AU 20 32954335 32954335 single base substitution A C intron_variant PACA-AU 20 32955435 32955435 single base substitution G C intron_variant PACA-AU 20 32958228 32958228 single base substitution G T downstream_gene_variant PACA-AU 20 32958228 32958228 single base substitution G T intron_variant PACA-AU 20 32959835 32959835 single base substitution G A downstream_gene_variant PACA-AU 20 32959835 32959835 single base substitution G A intron_variant PACA-AU 20 32977449 32977449 single base substitution G A intron_variant PACA-AU 20 32978128 32978128 single base substitution A T intron_variant PACA-AU 20 32981694 32981694 single base substitution T C splice_region_variant PACA-AU 20 32982606 32982606 single base substitution T C intron_variant PACA-AU 20 32982840 32982840 single base substitution C T intron_variant PACA-AU 20 32983846 32983846 single base substitution T A intron_variant PACA-AU 20 32987119 32987119 single base substitution A T intron_variant PACA-AU 20 32989425 32989425 single base substitution G C intron_variant PACA-AU 20 32990807 32990807 single base substitution T C intron_variant PACA-AU 20 32993059 32993059 single base substitution C G intron_variant PACA-AU 20 32994366 32994366 single base substitution A C intron_variant PACA-AU 20 33004426 33004426 single base substitution C T downstream_gene_variant PACA-AU 20 33004426 33004426 single base substitution C T intron_variant PACA-AU 20 33021291 33021291 single base substitution C G intron_variant PACA-AU 20 33033130 33033130 single base substitution A G missense_variant Y225C 674A>G PACA-AU 20 33033130 33033130 single base substitution A G missense_variant Y335C 1004A>G PACA-AU 20 33033130 33033130 single base substitution A G missense_variant Y376C 1127A>G PACA-AU 20 33033130 33033130 single base substitution A G upstream_gene_variant PACA-AU 20 33034617 33034617 single base substitution C T intron_variant PACA-AU 20 33053155 33053155 single base substitution G A intron_variant PACA-AU 20 33055899 33055899 single base substitution G C intron_variant PACA-AU 20 33055899 33055899 single base substitution G C upstream_gene_variant PACA-AU 20 33057912 33057912 single base substitution G A exon_variant PACA-AU 20 33057912 33057912 single base substitution G A missense_variant R385Q 1154G>A PACA-AU 20 33057912 33057912 single base substitution G A missense_variant R495Q 1484G>A PACA-AU 20 33057912 33057912 single base substitution G A missense_variant R536Q 1607G>A PACA-AU 20 33057912 33057912 single base substitution G A upstream_gene_variant PACA-AU 20 33059746 33059746 single base substitution C A intron_variant PACA-AU 20 33062501 33062501 single base substitution G A intron_variant PACA-AU 20 33064476 33064476 single base substitution G T intron_variant PACA-AU 20 33074469 33074469 single base substitution A T intron_variant PACA-AU 20 33079692 33079693 deletion of <=200bp TC - intron_variant PACA-AU 20 33083073 33083080 deletion of <=200bp AAATAAAT - intron_variant PACA-AU 20 33090905 33090905 deletion of <=200bp T - intron_variant PACA-AU 20 33094006 33094006 single base substitution C T intron_variant PACA-AU 20 33098683 33098683 single base substitution G T 3_prime_UTR_variant PACA-AU 20 33098683 33098683 single base substitution G T downstream_gene_variant PACA-CA 20 32947690 32947690 single base substitution T G upstream_gene_variant PACA-CA 20 32948319 32948319 single base substitution T C upstream_gene_variant PACA-CA 20 32949748 32949748 single base substitution A C upstream_gene_variant PACA-CA 20 32950244 32950244 single base substitution G A upstream_gene_variant PACA-CA 20 32950957 32950957 single base substitution C T upstream_gene_variant PACA-CA 20 32952983 32952983 single base substitution G A intron_variant PACA-CA 20 32955649 32955649 single base substitution T G intron_variant PACA-CA 20 32958003 32958003 single base substitution T C downstream_gene_variant PACA-CA 20 32958003 32958003 single base substitution T C intron_variant PACA-CA 20 32959752 32959752 single base substitution G C downstream_gene_variant PACA-CA 20 32959752 32959752 single base substitution G C intron_variant PACA-CA 20 32967252 32967252 single base substitution C T intron_variant PACA-CA 20 32970858 32970858 deletion of <=200bp T - intron_variant PACA-CA 20 32970973 32970973 single base substitution G T intron_variant PACA-CA 20 32974177 32974179 deletion of <=200bp CTT - intron_variant PACA-CA 20 32974874 32974874 single base substitution C G intron_variant PACA-CA 20 32975270 32975270 single base substitution C G intron_variant PACA-CA 20 32979781 32979781 single base substitution G T intron_variant PACA-CA 20 32981011 32981011 single base substitution C G intron_variant PACA-CA 20 32983701 32983701 single base substitution C T intron_variant PACA-CA 20 32985433 32985433 insertion of <=200bp - T intron_variant PACA-CA 20 32985533 32985533 deletion of <=200bp T - intron_variant PACA-CA 20 32986546 32986546 single base substitution T G intron_variant PACA-CA 20 32987896 32987896 single base substitution C T intron_variant PACA-CA 20 32988327 32988327 single base substitution G C intron_variant PACA-CA 20 32992519 32992519 single base substitution G A intron_variant PACA-CA 20 32996426 32996426 single base substitution T C intron_variant PACA-CA 20 32996792 32996795 deletion of <=200bp TCAC - intron_variant PACA-CA 20 33002889 33002889 single base substitution T C downstream_gene_variant PACA-CA 20 33002889 33002889 single base substitution T C intron_variant PACA-CA 20 33006639 33006639 single base substitution C T downstream_gene_variant PACA-CA 20 33006639 33006639 single base substitution C T intron_variant PACA-CA 20 33009634 33009634 single base substitution T C intron_variant PACA-CA 20 33015363 33015363 single base substitution G A intron_variant PACA-CA 20 33017973 33017973 single base substitution A G intron_variant PACA-CA 20 33018242 33018242 single base substitution A T intron_variant PACA-CA 20 33018858 33018858 single base substitution G A intron_variant PACA-CA 20 33022831 33022831 single base substitution A T intron_variant PACA-CA 20 33024218 33024218 single base substitution C T intron_variant PACA-CA 20 33024376 33024376 single base substitution A G intron_variant PACA-CA 20 33026372 33026372 single base substitution T C synonymous_variant G205G 615T>C PACA-CA 20 33026372 33026372 single base substitution T C synonymous_variant G246G 738T>C PACA-CA 20 33026372 33026372 single base substitution T C synonymous_variant G95G 285T>C PACA-CA 20 33026915 33026915 single base substitution T C intron_variant PACA-CA 20 33035013 33035013 single base substitution C T intron_variant PACA-CA 20 33045778 33045778 insertion of <=200bp - A intron_variant PACA-CA 20 33049381 33049381 single base substitution G A intron_variant PACA-CA 20 33050008 33050008 single base substitution G A exon_variant PACA-CA 20 33050008 33050008 single base substitution G A missense_variant R359H 1076G>A PACA-CA 20 33050008 33050008 single base substitution G A missense_variant R469H 1406G>A PACA-CA 20 33050008 33050008 single base substitution G A missense_variant R510H 1529G>A PACA-CA 20 33052687 33052687 single base substitution C T intron_variant PACA-CA 20 33053143 33053143 single base substitution C T intron_variant PACA-CA 20 33053614 33053614 single base substitution G A intron_variant PACA-CA 20 33053997 33053997 single base substitution C T intron_variant PACA-CA 20 33062175 33062175 single base substitution C T intron_variant PACA-CA 20 33067531 33067531 single base substitution C T exon_variant PACA-CA 20 33067531 33067531 single base substitution C T synonymous_variant P475P 1425C>T PACA-CA 20 33067531 33067531 single base substitution C T synonymous_variant P585P 1755C>T PACA-CA 20 33067531 33067531 single base substitution C T synonymous_variant P626P 1878C>T PACA-CA 20 33070495 33070495 single base substitution A G downstream_gene_variant PACA-CA 20 33070495 33070495 single base substitution A G intron_variant PACA-CA 20 33075180 33075180 single base substitution A G intron_variant PACA-CA 20 33075241 33075241 single base substitution C G intron_variant PACA-CA 20 33075434 33075434 single base substitution A T intron_variant PACA-CA 20 33078499 33078499 single base substitution G T intron_variant PACA-CA 20 33079794 33079794 single base substitution C A intron_variant PACA-CA 20 33082832 33082832 single base substitution G A intron_variant PACA-CA 20 33083128 33083128 single base substitution G A intron_variant PACA-CA 20 33083997 33083997 single base substitution A T intron_variant PACA-CA 20 33084615 33084615 single base substitution A G intron_variant PACA-CA 20 33085595 33085595 single base substitution C A intron_variant PACA-CA 20 33085682 33085682 single base substitution C T intron_variant PACA-CA 20 33096617 33096617 single base substitution A T 3_prime_UTR_variant PACA-CA 20 33096617 33096617 single base substitution A T downstream_gene_variant PACA-CA 20 33101621 33101621 single base substitution A G downstream_gene_variant PAEN-AU 20 33083073 33083080 deletion of <=200bp AAATAAAT - intron_variant PAEN-IT 20 32950229 32950229 single base substitution A G upstream_gene_variant PAEN-IT 20 33067602 33067602 single base substitution C T splice_region_variant PAEN-IT 20 33093683 33093683 single base substitution G A intron_variant PBCA-DE 20 32949210 32949210 single base substitution C A upstream_gene_variant PBCA-DE 20 32958316 32958316 insertion of <=200bp - A downstream_gene_variant PBCA-DE 20 32958316 32958316 insertion of <=200bp - A intron_variant PBCA-DE 20 32967153 32967153 single base substitution T C intron_variant PBCA-DE 20 32973790 32973790 deletion of <=200bp C - intron_variant PBCA-DE 20 32976600 32976600 single base substitution C G intron_variant PBCA-DE 20 32979845 32979845 single base substitution T C intron_variant PBCA-DE 20 32982049 32982049 single base substitution C A intron_variant PBCA-DE 20 33006717 33006717 single base substitution G A intron_variant PBCA-DE 20 33016998 33016998 single base substitution G T intron_variant PBCA-DE 20 33019723 33019723 single base substitution G A intron_variant PBCA-DE 20 33020728 33020728 single base substitution G A intron_variant PBCA-DE 20 33026692 33026692 single base substitution G A intron_variant PBCA-DE 20 33052089 33052089 single base substitution G A intron_variant PBCA-DE 20 33053078 33053078 single base substitution G A intron_variant PBCA-DE 20 33053690 33053690 single base substitution C A intron_variant PBCA-DE 20 33059583 33059583 insertion of <=200bp - TG intron_variant PBCA-DE 20 33061946 33061946 single base substitution T G intron_variant PBCA-DE 20 33062859 33062859 single base substitution C G intron_variant PBCA-DE 20 33082881 33082881 single base substitution T A intron_variant PBCA-DE 20 33098697 33098697 single base substitution G A 3_prime_UTR_variant PBCA-DE 20 33098697 33098697 single base substitution G A downstream_gene_variant PBCA-DE 20 33098756 33098756 single base substitution C T 3_prime_UTR_variant PBCA-DE 20 33098756 33098756 single base substitution C T downstream_gene_variant PRAD-CA 20 32954498 32954498 single base substitution T C intron_variant PRAD-CA 20 32963922 32963922 single base substitution A C intron_variant PRAD-CA 20 32967712 32967712 single base substitution C T intron_variant PRAD-CA 20 33000571 33000571 single base substitution A T intron_variant PRAD-CA 20 33005355 33005355 single base substitution G A downstream_gene_variant PRAD-CA 20 33005355 33005355 single base substitution G A intron_variant PRAD-CA 20 33043449 33043449 single base substitution C T intron_variant PRAD-CA 20 33045984 33045984 single base substitution G T intron_variant PRAD-CA 20 33053848 33053848 single base substitution T G intron_variant PRAD-UK 20 32947144 32947144 deletion of <=200bp A - upstream_gene_variant PRAD-UK 20 32947149 32947149 single base substitution T G upstream_gene_variant PRAD-UK 20 32964816 32964816 insertion of <=200bp - C intron_variant PRAD-UK 20 32965384 32965385 deletion of <=200bp AT - intron_variant PRAD-UK 20 32967298 32967298 single base substitution C T intron_variant PRAD-UK 20 32982146 32982146 single base substitution T C intron_variant PRAD-UK 20 33013851 33013851 single base substitution T C intron_variant PRAD-UK 20 33015700 33015700 insertion of <=200bp - T intron_variant PRAD-UK 20 33015723 33015723 single base substitution C A intron_variant PRAD-UK 20 33036338 33036338 single base substitution G A intron_variant PRAD-UK 20 33053469 33053469 single base substitution G C intron_variant PRAD-UK 20 33064145 33064145 single base substitution C T intron_variant PRAD-UK 20 33072719 33072728 deletion of <=200bp GGACCCCATA - downstream_gene_variant PRAD-UK 20 33072719 33072728 deletion of <=200bp GGACCCCATA - intron_variant PRAD-UK 20 33073826 33073826 insertion of <=200bp - T downstream_gene_variant PRAD-UK 20 33073826 33073826 insertion of <=200bp - T intron_variant PRAD-UK 20 33076246 33076246 single base substitution G A intron_variant PRAD-UK 20 33083154 33083154 single base substitution T C intron_variant PRAD-UK 20 33087048 33087048 insertion of <=200bp - CTG intron_variant READ-US 20 33080340 33080340 single base substitution G A missense_variant R675K 2024G>A READ-US 20 33080340 33080340 single base substitution G A missense_variant R785K 2354G>A READ-US 20 33080340 33080340 single base substitution G A missense_variant R826K 2477G>A RECA-EU 20 32959088 32959088 single base substitution T C downstream_gene_variant RECA-EU 20 32959088 32959088 single base substitution T C intron_variant RECA-EU 20 32961516 32961516 single base substitution C T downstream_gene_variant RECA-EU 20 32961516 32961516 single base substitution C T intron_variant RECA-EU 20 32961699 32961699 single base substitution T A downstream_gene_variant RECA-EU 20 32961699 32961699 single base substitution T A intron_variant RECA-EU 20 32974265 32974265 single base substitution C A intron_variant RECA-EU 20 32984374 32984374 single base substitution G A intron_variant RECA-EU 20 32986374 32986374 single base substitution T A intron_variant RECA-EU 20 32992963 32992963 single base substitution A G intron_variant RECA-EU 20 32996739 32996739 single base substitution A T intron_variant RECA-EU 20 33000446 33000446 single base substitution G A splice_donor_variant RECA-EU 20 33009991 33009991 single base substitution C A intron_variant RECA-EU 20 33011087 33011087 single base substitution C T intron_variant RECA-EU 20 33024348 33024348 single base substitution G C intron_variant RECA-EU 20 33027726 33027726 single base substitution C G intron_variant RECA-EU 20 33048380 33048380 single base substitution T C intron_variant RECA-EU 20 33060193 33060193 single base substitution A G intron_variant RECA-EU 20 33060195 33060195 single base substitution A G intron_variant RECA-EU 20 33060196 33060196 single base substitution A G intron_variant RECA-EU 20 33086408 33086408 single base substitution A T intron_variant RECA-EU 20 33100445 33100445 single base substitution T C downstream_gene_variant SKCA-BR 20 32946923 32946923 single base substitution C T upstream_gene_variant SKCA-BR 20 32950001 32950001 single base substitution G A upstream_gene_variant SKCA-BR 20 32952495 32952495 single base substitution A G intron_variant SKCA-BR 20 32955422 32955422 single base substitution A G intron_variant SKCA-BR 20 32960895 32960895 single base substitution C T downstream_gene_variant SKCA-BR 20 32960895 32960895 single base substitution C T intron_variant SKCA-BR 20 32962926 32962926 single base substitution T C intron_variant SKCA-BR 20 32963536 32963536 single base substitution T A intron_variant SKCA-BR 20 32968312 32968312 single base substitution G T intron_variant SKCA-BR 20 32971719 32971719 single base substitution T C intron_variant SKCA-BR 20 32972053 32972056 deletion of <=200bp TGCA - intron_variant SKCA-BR 20 32973919 32973919 single base substitution T G intron_variant SKCA-BR 20 32980913 32980913 single base substitution T A intron_variant SKCA-BR 20 32984172 32984172 single base substitution C G intron_variant SKCA-BR 20 32984714 32984714 single base substitution T A intron_variant SKCA-BR 20 32984745 32984745 single base substitution C T intron_variant SKCA-BR 20 32985111 32985111 single base substitution G A intron_variant SKCA-BR 20 32986447 32986447 single base substitution C T intron_variant SKCA-BR 20 32988482 32988482 single base substitution C T intron_variant SKCA-BR 20 33004649 33004649 single base substitution C T downstream_gene_variant SKCA-BR 20 33004649 33004649 single base substitution C T intron_variant SKCA-BR 20 33005762 33005762 single base substitution T A downstream_gene_variant SKCA-BR 20 33005762 33005762 single base substitution T A intron_variant SKCA-BR 20 33006554 33006554 single base substitution C T downstream_gene_variant SKCA-BR 20 33006554 33006554 single base substitution C T intron_variant SKCA-BR 20 33013795 33013795 single base substitution T C intron_variant SKCA-BR 20 33014459 33014462 deletion of <=200bp ATTG - intron_variant SKCA-BR 20 33016395 33016395 single base substitution T G intron_variant SKCA-BR 20 33017191 33017191 single base substitution T A intron_variant SKCA-BR 20 33019299 33019299 single base substitution A G intron_variant SKCA-BR 20 33019854 33019854 insertion of <=200bp - CAA intron_variant SKCA-BR 20 33020979 33020979 single base substitution C T intron_variant SKCA-BR 20 33025134 33025134 single base substitution A G intron_variant SKCA-BR 20 33030005 33030005 single base substitution T A splice_region_variant SKCA-BR 20 33030005 33030005 single base substitution T A upstream_gene_variant SKCA-BR 20 33031362 33031362 single base substitution G A intron_variant SKCA-BR 20 33031362 33031362 single base substitution G A upstream_gene_variant SKCA-BR 20 33037412 33037412 single base substitution T G intron_variant SKCA-BR 20 33040902 33040902 single base substitution T C intron_variant SKCA-BR 20 33042143 33042143 single base substitution T C intron_variant SKCA-BR 20 33043963 33043967 deletion of <=200bp TTGTG - intron_variant SKCA-BR 20 33044019 33044019 single base substitution A T intron_variant SKCA-BR 20 33044438 33044438 insertion of <=200bp - CAA intron_variant SKCA-BR 20 33044461 33044461 single base substitution A G intron_variant SKCA-BR 20 33050791 33050791 single base substitution T A intron_variant SKCA-BR 20 33056595 33056595 insertion of <=200bp - CA intron_variant SKCA-BR 20 33056595 33056595 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 20 33059582 33059582 insertion of <=200bp - TTGTGTGTG intron_variant SKCA-BR 20 33060193 33060193 insertion of <=200bp - AAAG intron_variant SKCA-BR 20 33060196 33060196 single base substitution A G intron_variant SKCA-BR 20 33060200 33060200 single base substitution A G intron_variant SKCA-BR 20 33062660 33062660 single base substitution C T intron_variant SKCA-BR 20 33063830 33063830 single base substitution A C intron_variant SKCA-BR 20 33065283 33065283 single base substitution G A intron_variant SKCA-BR 20 33070159 33070159 single base substitution C T downstream_gene_variant SKCA-BR 20 33070159 33070159 single base substitution C T intron_variant SKCA-BR 20 33074371 33074371 single base substitution T C intron_variant SKCA-BR 20 33074817 33074817 insertion of <=200bp - GTT intron_variant SKCA-BR 20 33078330 33078330 single base substitution C T intron_variant SKCA-BR 20 33078999 33078999 single base substitution G A intron_variant SKCA-BR 20 33083088 33083088 insertion of <=200bp - TA intron_variant SKCA-BR 20 33083094 33083094 single base substitution A T intron_variant SKCA-BR 20 33083096 33083097 deletion of <=200bp TA - intron_variant SKCA-BR 20 33083099 33083099 single base substitution A T intron_variant SKCA-BR 20 33083669 33083669 single base substitution C T intron_variant SKCA-BR 20 33084262 33084262 single base substitution C T intron_variant SKCA-BR 20 33086173 33086173 single base substitution T C intron_variant SKCA-BR 20 33090786 33090786 single base substitution C T intron_variant SKCA-BR 20 33091623 33091623 single base substitution C T intron_variant SKCA-BR 20 33091679 33091679 single base substitution T G intron_variant SKCA-BR 20 33093045 33093045 single base substitution C T intron_variant SKCA-BR 20 33095092 33095092 single base substitution T G intron_variant SKCA-BR 20 33095095 33095095 insertion of <=200bp - GTT intron_variant SKCA-BR 20 33101242 33101242 single base substitution C T downstream_gene_variant SKCA-BR 20 33102745 33102745 single base substitution C G downstream_gene_variant SKCA-BR 20 33103521 33103521 single base substitution G C downstream_gene_variant SKCM-US 20 33000324 33000324 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant SKCM-US 20 33000324 33000324 single base substitution C T exon_variant SKCM-US 20 33000324 33000324 single base substitution C T synonymous_variant I72I 216C>T SKCM-US 20 33026293 33026293 single base substitution G A missense_variant G179E 536G>A SKCM-US 20 33026293 33026293 single base substitution G A missense_variant G220E 659G>A SKCM-US 20 33026293 33026293 single base substitution G A missense_variant G69E 206G>A SKCM-US 20 33026303 33026303 single base substitution C T synonymous_variant D182D 546C>T SKCM-US 20 33026303 33026303 single base substitution C T synonymous_variant D223D 669C>T SKCM-US 20 33026303 33026303 single base substitution C T synonymous_variant D72D 216C>T SKCM-US 20 33026409 33026409 single base substitution C T missense_variant P108S 322C>T SKCM-US 20 33026409 33026409 single base substitution C T missense_variant P218S 652C>T SKCM-US 20 33026409 33026409 single base substitution C T missense_variant P259S 775C>T SKCM-US 20 33027990 33027990 single base substitution C T missense_variant S127F 380C>T SKCM-US 20 33027990 33027990 single base substitution C T missense_variant S237F 710C>T SKCM-US 20 33027990 33027990 single base substitution C T missense_variant S278F 833C>T SKCM-US 20 33033181 33033181 single base substitution C T exon_variant SKCM-US 20 33033181 33033181 single base substitution C T missense_variant S242F 725C>T SKCM-US 20 33033181 33033181 single base substitution C T missense_variant S352F 1055C>T SKCM-US 20 33033181 33033181 single base substitution C T missense_variant S393F 1178C>T SKCM-US 20 33049960 33049960 single base substitution C T exon_variant SKCM-US 20 33049960 33049960 single base substitution C T missense_variant P343L 1028C>T SKCM-US 20 33049960 33049960 single base substitution C T missense_variant P453L 1358C>T SKCM-US 20 33049960 33049960 single base substitution C T missense_variant P494L 1481C>T SKCM-US 20 33067434 33067434 single base substitution G A intron_variant SKCM-US 20 33067434 33067434 single base substitution G A splice_acceptor_variant SKCM-US 20 33068912 33068912 single base substitution C T exon_variant SKCM-US 20 33068912 33068912 single base substitution C T missense_variant S555F 1664C>T SKCM-US 20 33068912 33068912 single base substitution C T missense_variant S665F 1994C>T SKCM-US 20 33068912 33068912 single base substitution C T missense_variant S706F 2117C>T SKCM-US 20 33077189 33077189 single base substitution G A missense_variant E628K 1882G>A SKCM-US 20 33077189 33077189 single base substitution G A missense_variant E738K 2212G>A SKCM-US 20 33077189 33077189 single base substitution G A missense_variant E779K 2335G>A STAD-US 20 32996530 32996530 single base substitution T C exon_variant STAD-US 20 32996530 32996530 single base substitution T C intron_variant STAD-US 20 32996530 32996530 single base substitution T C synonymous_variant D48D 144T>C STAD-US 20 33026406 33026406 single base substitution C T stop_gained R107* 319C>T STAD-US 20 33026406 33026406 single base substitution C T stop_gained R217* 649C>T STAD-US 20 33026406 33026406 single base substitution C T stop_gained R258* 772C>T STAD-US 20 33030037 33030037 single base substitution C T synonymous_variant H188H 564C>T STAD-US 20 33030037 33030037 single base substitution C T synonymous_variant H298H 894C>T STAD-US 20 33030037 33030037 single base substitution C T synonymous_variant H339H 1017C>T STAD-US 20 33030037 33030037 single base substitution C T upstream_gene_variant STAD-US 20 33068914 33068914 single base substitution G A exon_variant STAD-US 20 33068914 33068914 single base substitution G A missense_variant V556I 1666G>A STAD-US 20 33068914 33068914 single base substitution G A missense_variant V666I 1996G>A STAD-US 20 33068914 33068914 single base substitution G A missense_variant V707I 2119G>A STAD-US 20 33068998 33068998 single base substitution G A downstream_gene_variant STAD-US 20 33068998 33068998 single base substitution G A missense_variant E584K 1750G>A STAD-US 20 33068998 33068998 single base substitution G A missense_variant E694K 2080G>A STAD-US 20 33068998 33068998 single base substitution G A missense_variant E735K 2203G>A STAD-US 20 33077191 33077191 single base substitution G C missense_variant E628D 1884G>C STAD-US 20 33077191 33077191 single base substitution G C missense_variant E738D 2214G>C STAD-US 20 33077191 33077191 single base substitution G C missense_variant E779D 2337G>C STAD-US 20 33095507 33095507 single base substitution C T missense_variant R723C 2167C>T STAD-US 20 33095507 33095507 single base substitution C T missense_variant R833C 2497C>T STAD-US 20 33095507 33095507 single base substitution C T missense_variant R874C 2620C>T THCA-SA 20 32957216 32957216 single base substitution G A 5_prime_UTR_variant THCA-SA 20 32957216 32957216 single base substitution G A exon_variant THCA-US 20 33057876 33057876 single base substitution A G exon_variant THCA-US 20 33057876 33057876 single base substitution A G missense_variant Y373C 1118A>G THCA-US 20 33057876 33057876 single base substitution A G missense_variant Y483C 1448A>G THCA-US 20 33057876 33057876 single base substitution A G missense_variant Y524C 1571A>G THCA-US 20 33057876 33057876 single base substitution A G upstream_gene_variant UCEC-US 20 33000442 33000442 single base substitution A G exon_variant UCEC-US 20 33000442 33000442 single base substitution A G missense_variant K112E 334A>G UCEC-US 20 33000442 33000442 single base substitution A G missense_variant K2E 4A>G UCEC-US 20 33001580 33001580 single base substitution G T exon_variant UCEC-US 20 33001580 33001580 single base substitution G T missense_variant G124C 370G>T UCEC-US 20 33001580 33001580 single base substitution G T missense_variant G14C 40G>T UCEC-US 20 33001684 33001687 deletion of <=200bp AAGT - exon_variant UCEC-US 20 33001684 33001687 deletion of <=200bp AAGT - frameshift_variant EN158 UCEC-US 20 33001684 33001687 deletion of <=200bp AAGT - frameshift_variant ES158 UCEC-US 20 33001684 33001687 deletion of <=200bp AAGT - frameshift_variant ES48 UCEC-US 20 33030093 33030093 single base substitution A C missense_variant E207A 620A>C UCEC-US 20 33030093 33030093 single base substitution A C missense_variant E317A 950A>C UCEC-US 20 33030093 33030093 single base substitution A C missense_variant E358A 1073A>C UCEC-US 20 33030093 33030093 single base substitution A C upstream_gene_variant UCEC-US 20 33037249 33037249 single base substitution G T exon_variant UCEC-US 20 33037249 33037249 single base substitution G T stop_gained E282* 844G>T UCEC-US 20 33037249 33037249 single base substitution G T stop_gained E392* 1174G>T UCEC-US 20 33037249 33037249 single base substitution G T stop_gained E433* 1297G>T UCEC-US 20 33067533 33067533 single base substitution C T exon_variant UCEC-US 20 33067533 33067533 single base substitution C T missense_variant A476V 1427C>T UCEC-US 20 33067533 33067533 single base substitution C T missense_variant A586V 1757C>T UCEC-US 20 33067533 33067533 single base substitution C T missense_variant A627V 1880C>T UCEC-US 20 33067578 33067578 single base substitution G T exon_variant UCEC-US 20 33067578 33067578 single base substitution G T missense_variant G491V 1472G>T UCEC-US 20 33067578 33067578 single base substitution G T missense_variant G601V 1802G>T UCEC-US 20 33067578 33067578 single base substitution G T missense_variant G642V 1925G>T UCEC-US 20 33077688 33077688 single base substitution G A missense_variant R649H 1946G>A UCEC-US 20 33077688 33077688 single base substitution G A missense_variant R759H 2276G>A UCEC-US 20 33077688 33077688 single base substitution G A missense_variant R800H 2399G>A UCEC-US 20 33080315 33080315 single base substitution G T stop_gained E667* 1999G>T UCEC-US 20 33080315 33080315 single base substitution G T stop_gained E777* 2329G>T UCEC-US 20 33080315 33080315 single base substitution G T stop_gained E818* 2452G>T UCEC-US 20 33095508 33095508 single base substitution G A missense_variant R723H 2168G>A UCEC-US 20 33095508 33095508 single base substitution G A missense_variant R833H 2498G>A UCEC-US 20 33095508 33095508 single base substitution G A missense_variant R874H 2621G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 174T COSM1726001 c.2490-2A>T p.? Unknown 20:34507693-34507693 + TCGA-EI-6917-01 COSM3423598 c.2354G>A p.R785K Substitution - Missense 20:34492535-34492535 + Ad1 COSM4440803 c.1423C>A p.L475I Substitution - Missense 20:34462220-34462220 + TCGA-39-5031-01 COSM723979 c.1870A>G p.K624E Substitution - Missense 20:34480650-34480650 + TCGA-FJ-A3ZF-01 COSM3799453 c.1805G>A p.R602K Substitution - Missense 20:34479776-34479776 + CRC-8 COSM304548 c.2463A>T p.E821D Substitution - Missense 20:34504377-34504377 + Pat_26_A COSM5857715 c.5C>T p.S2F Substitution - Missense 20:34393816-34393816 + TCGA-A8-A0A7-01 COSM443685 c.550G>A p.E184K Substitution - Missense 20:34438502-34438502 + Pat_02_B COSM3545536 c.1358C>T p.P453L Substitution - Missense 20:34462155-34462155 + ITNET_1047_T COSM4963428 c.1818+8C>T p.? Unknown 20:34479797-34479797 + RK180_C02 COSM1632249 c.688A>T p.N230Y Substitution - Missense 20:34440163-34440163 + 86507 COSM94528 c.1765A>G p.I589V Substitution - Missense 20:34479736-34479736 + B104-0-Tumor COSM1751403 c.739C>G p.L247V Substitution - Missense 20:34440214-34440214 + PCSI_0083_Pa_P COSM2758045 c.1406G>A p.R469H Substitution - Missense 20:34462203-34462203 + 107047 COSM95960 c.739C>T p.L247L Substitution - coding silent 20:34440214-34440214 + TCGA-A3-3374-01 COSM1495023 c.249G>T p.V83V Substitution - coding silent 20:34412551-34412551 + H2171 COSM312050 c.1013A>G p.H338R Substitution - Missense 20:34445334-34445334 + TCGA-E9-A5UO-01 COSM3840814 c.2316G>T p.W772C Substitution - Missense 20:34489923-34489923 + 10821 COSM3728116 c.2182T>A p.Y728N Substitution - Missense 20:34489354-34489354 + Pat_45_B COSM5857716 c.48G>A p.M16I Substitution - Missense 20:34393859-34393859 + 2293782 COSM4608912 c.1379G>T p.R460I Substitution - Missense 20:34462176-34462176 + 2492721 COSM5724377 c.2274C>T p.Y758Y Substitution - coding silent 20:34489881-34489881 + TCGA-EE-A3AA-06 COSM3545532 c.546C>T p.D182D Substitution - coding silent 20:34438498-34438498 + YUKAT COSM5391877 c.873G>A p.W291* Substitution - Nonsense 20:34442211-34442211 + LUAD-B02477 COSM335866 c.1847C>A p.T616K Substitution - Missense 20:34480627-34480627 + LUAD-YINHD COSM94531 c.2563G>A p.E855K Substitution - Missense 20:34507768-34507768 + TCGA-EE-A3JD-06 COSM4394253 c.1994C>T p.S665F Substitution - Missense 20:34481107-34481107 + TCGA-BH-A0B6-01 COSM3840811 c.1163C>T p.S388L Substitution - Missense 20:34449433-34449433 + ESO-0009 COSM1254984 c.1510delC p.P504fs*4 Deletion - Frameshift 20:34471456-34471456 + TCGA-EL-A4K4-01 COSM3371659 c.1448A>G p.Y483C Substitution - Missense 20:34470071-34470071 + LUAD-5V8LT COSM402206 c.1139G>T p.G380V Substitution - Missense 20:34445460-34445460 + SS6003320 COSM4019715 c.88A>T p.K30* Substitution - Nonsense 20:34408668-34408668 + QC2-35-T2 COSM5655193 c.748_753delACAAAT p.N255_T256delNT Deletion - In frame 20:34440223-34440228 + HCC074T COSM5810281 c.232A>T p.K78* Substitution - Nonsense 20:34412534-34412534 + HN_62741 COSM123786 c.2249A>G p.N750S Substitution - Missense 20:34489856-34489856 + CRC-03T COSM5451567 c.641G>T p.R214I Substitution - Missense 20:34438593-34438593 + HCC108T COSM1615485 c.699A>G p.P233P Substitution - coding silent 20:34440174-34440174 + TCGA-BR-7717-01 COSM4097786 c.2080G>A p.E694K Substitution - Missense 20:34481193-34481193 + SW620 COSM2758061 c.1975G>A p.D659N Substitution - Missense 20:34481088-34481088 + RK220_C01 COSM3740092 c.1887A>C p.K629N Substitution - Missense 20:34480667-34480667 + QC2-22-T2 COSM5653100 c.1146A>G p.Q382Q Substitution - coding silent 20:34449416-34449416 + PT52 COSM4477582 c.2042C>T p.P681L Substitution - Missense 20:34481155-34481155 + 169T COSM1725846 c.965+2T>G p.? Unknown 20:34442305-34442305 + LUAD-RT-S01769 COSM380970 c.1672C>G p.L558V Substitution - Missense 20:34479643-34479643 + LUAD-NYU284 COSM373050 c.1582A>T p.S528C Substitution - Missense 20:34477784-34477784 + TCGA-G4-6628-01 COSM185702 c.2498G>A p.R833H Substitution - Missense 20:34507703-34507703 + 1N37-VS-1T37 COSM4975052 c.539C>T p.S180L Substitution - Missense 20:34438491-34438491 + TCGA-AP-A0LM-01 COSM185702 c.2498G>A p.R833H Substitution - Missense 20:34507703-34507703 + 8031121 COSM3389695 c.1484G>A p.R495Q Substitution - Missense 20:34470107-34470107 + PD4203a COSM161780 c.712G>A p.E238K Substitution - Missense 20:34440187-34440187 + 107048 COSM94529 c.2170C>G p.L724V Substitution - Missense 20:34489342-34489342 + PCSI_0021_Pa_X COSM3379022 c.615T>C p.G205G Substitution - coding silent 20:34438567-34438567 + LUAD-NYU847 COSM376767 c.874G>T p.E292* Substitution - Nonsense 20:34442212-34442212 + PT52 COSM5081463 c.635C>T p.P212L Substitution - Missense 20:34438587-34438587 + TCGA-AZ-4315-01 COSM1411297 c.1987T>C p.Y663H Substitution - Missense 20:34481100-34481100 + RK095_C01 COSM3701613 c.2077A>T p.K693* Substitution - Nonsense 20:34481190-34481190 + TCGA-FW-A3R5-06 COSM3911147 c.710C>T p.S237F Substitution - Missense 20:34440185-34440185 + TCGA-AP-A0LM-01 COSM1026029 c.1757C>T p.A586V Substitution - Missense 20:34479728-34479728 + YUWALI COSM1713380 c.187C>T p.P63S Substitution - Missense 20:34408767-34408767 + TCGA-BS-A0UF-01 COSM1026020 c.334A>G p.K112E Substitution - Missense 20:34412636-34412636 + TCGA-AX-A0J1-01 COSM1026030 c.1802G>T p.G601V Substitution - Missense 20:34479773-34479773 + TCGA-GF-A6C9-06 COSM4901385 c.652C>T p.P218S Substitution - Missense 20:34438604-34438604 + TCGA-DK-A1AC-01 COSM1307301 c.2128G>A p.E710K Substitution - Missense 20:34489300-34489300 + TCGA-EA-A3HT-01 COSM4843349 c.2276G>C p.R759P Substitution - Missense 20:34489883-34489883 + AOCS-128-1-0 COSM1411293 c.337C>T p.L113F Substitution - Missense 20:34412639-34412639 + 587224 COSM1210955 c.1793G>A p.R598H Substitution - Missense 20:34479764-34479764 + pfg016T COSM1641328 c.2383C>T p.R795* Substitution - Nonsense 20:34492564-34492564 + 255 COSM3732429 c.1851delT p.S619fs*9 Deletion - Frameshift 20:34480631-34480631 + T3262 COSM4693203 c.1580T>C p.F527S Substitution - Missense 20:34477782-34477782 + TCGA-B5-A0JV-01 COSM1026033 c.2276G>A p.R759H Substitution - Missense 20:34489883-34489883 + T155 COSM1026034 c.2329G>T p.E777* Substitution - Nonsense 20:34492510-34492510 + 2492723 COSM5724377 c.2274C>T p.Y758Y Substitution - coding silent 20:34489881-34489881 + Pat_59_A COSM5857722 c.2093+2T>A p.? Unknown 20:34481208-34481208 + AOCS-131-1-3 COSM4136840 c.33G>A p.M11I Substitution - Missense 20:34393844-34393844 + SNU-C4 COSM4653275 c.956T>A p.L319Q Substitution - Missense 20:34442294-34442294 + CHEWS002 COSM4581739 c.2412C>T p.L804L Substitution - coding silent 20:34492593-34492593 + SA075 COSM214197 c.2497C>T p.R833C Substitution - Missense 20:34507702-34507702 + CHC1081T COSM4791186 c.1396A>G p.I466V Substitution - Missense 20:34462193-34462193 + LS174T COSM2758030 c.867T>C p.P289P Substitution - coding silent 20:34440342-34440342 + RK245_C01 COSM4945114 c.870-3A>G p.? Unknown 20:34442205-34442205 + SA106 COSM213767 c.1308A>C p.E436D Substitution - Missense 20:34462105-34462105 + Pat_76_B COSM5857720 c.1559C>T p.S520F Substitution - Missense 20:34471505-34471505 + Pat_76_A COSM5857720 c.1559C>T p.S520F Substitution - Missense 20:34471505-34471505 + TCGA-GV-A3QG-01 COSM1307300 c.770C>A p.S257Y Substitution - Missense 20:34440245-34440245 + CSCC-11-T COSM4474905 c.1828C>T p.H610Y Substitution - Missense 20:34480608-34480608 + 5_tFL COSM4171032 c.950A>G p.E317G Substitution - Missense 20:34442288-34442288 + 107428 COSM94531 c.2563G>A p.E855K Substitution - Missense 20:34507768-34507768 + T1180 COSM4693202 c.1274G>A p.W425* Substitution - Nonsense 20:34457453-34457453 + Pat_05_A COSM5857717 c.1262G>A p.R421Q Substitution - Missense 20:34457441-34457441 + B104-0 COSM1751403 c.739C>G p.L247V Substitution - Missense 20:34440214-34440214 + TCGA-DU-5852-01 COSM3972522 c.1995C>T p.S665S Substitution - coding silent 20:34481108-34481108 + 59 COSM5015664 c.1034G>T p.W345L Substitution - Missense 20:34445355-34445355 + HT115 COSM2758045 c.1406G>A p.R469H Substitution - Missense 20:34462203-34462203 + LS180 COSM2758030 c.867T>C p.P289P Substitution - coding silent 20:34440342-34440342 + T3225 COSM4693201 c.898C>T p.R300* Substitution - Nonsense 20:34442236-34442236 + CDGLIV0707A0251_T COSM5041720 c.2326A>T p.K776* Substitution - Nonsense 20:34492507-34492507 + SJHGG066_A COSM4971264 c.862_869delCCACCTGG p.P288fs*18 Deletion - Frameshift 20:34440337-34440344 + TCGA-32-1986-01 COSM3405031 c.20A>G p.Q7R Substitution - Missense 20:34393831-34393831 + AOCS-094-6-X COSM4136841 c.1944C>G p.I648M Substitution - Missense 20:34480724-34480724 + TCGA-HU-A4G8-01 COSM214197 c.2497C>T p.R833C Substitution - Missense 20:34507702-34507702 + HCC108 COSM1615485 c.699A>G p.P233P Substitution - coding silent 20:34440174-34440174 + ME044T COSM229363 c.1601G>T p.R534I Substitution - Missense 20:34477803-34477803 + PD4127a COSM161779 c.2212G>C p.E738Q Substitution - Missense 20:34489384-34489384 + SCC-9 COSM4597501 c.987C>A p.N329K Substitution - Missense 20:34445308-34445308 + TCGA-CZ-5451-01 COSM478044 c.520A>C p.R174R Substitution - coding silent 20:34424524-34424524 + MPCC_0037_Pa_C COSM3379023 c.1755C>T p.P585P Substitution - coding silent 20:34479726-34479726 + K295 COSM249549 c.199C>T p.Q67* Substitution - Nonsense 20:34408779-34408779 + PCSI_0083_Pa_P_526 COSM2758045 c.1406G>A p.R469H Substitution - Missense 20:34462203-34462203 + YUZINO COSM214197 c.2497C>T p.R833C Substitution - Missense 20:34507702-34507702 + HCC75T COSM1615486 c.2094-3C>T p.? Unknown 20:34489263-34489263 + PCSI_0086_Pa_P COSM3379023 c.1755C>T p.P585P Substitution - coding silent 20:34479726-34479726 + ZZUFHECRKL-G025T COSM5431016 c.966-9C>T p.? Unknown 20:34445278-34445278 + 587342 COSM1210956 c.1202C>T p.P401L Substitution - Missense 20:34449472-34449472 + TCGA-EE-A2MR-06 COSM3545531 c.536G>A p.G179E Substitution - Missense 20:34438488-34438488 + TCGA-BS-A0UV-01 COSM1026025 c.1174G>T p.E392* Substitution - Nonsense 20:34449444-34449444 + HT115 COSM2758015 c.216C>T p.I72I Substitution - coding silent 20:34412518-34412518 + TCGA-CJ-5671-01 COSM478045 c.603A>G p.S201S Substitution - coding silent 20:34438555-34438555 + TCGA-HU-A4GQ-01 COSM4097780 c.144T>C p.D48D Substitution - coding silent 20:34408724-34408724 + TCGA-AA-3966-01 COSM297188 c.1539delA p.T515fs*10 Deletion - Frameshift 20:34471485-34471485 + CHC1081T COSM4791186 c.1396A>G p.I466V Substitution - Missense 20:34462193-34462193 + Pat_59_B COSM5857721 c.1569+1G>A p.? Unknown 20:34471516-34471516 + 2492722 COSM5724377 c.2274C>T p.Y758Y Substitution - coding silent 20:34489881-34489881 + CSCC-46-T COSM4509424 c.683C>G p.S228C Substitution - Missense 20:34440158-34440158 + OSCC-GB_00630111 COSM4885061 c.701C>A p.S234Y Substitution - Missense 20:34440176-34440176 + TCGA-FS-A4F8-06 COSM3545536 c.1358C>T p.P453L Substitution - Missense 20:34462155-34462155 + TCGA-GN-A269-01 COSM3545537 c.2212G>A p.E738K Substitution - Missense 20:34489384-34489384 + RK217_C01 COSM3740093 c.2485A>G p.T829A Substitution - Missense 20:34504399-34504399 + CSCC-7-T COSM4477582 c.2042C>T p.P681L Substitution - Missense 20:34481155-34481155 + Au4 COSM2758042 c.1245C>T p.F415F Substitution - coding silent 20:34457424-34457424 + TCGA-18-3409-01 COSM723980 c.1666T>A p.F556I Substitution - Missense 20:34479637-34479637 + ESCC_156 COSM5646039 c.1404C>A p.P468P Substitution - coding silent 20:34462201-34462201 + 2521243 COSM5887116 c.2396G>A p.G799E Substitution - Missense 20:34492577-34492577 + PT13 COSM5896431 c.1586C>T p.P529L Substitution - Missense 20:34477788-34477788 + XHDG35 COSM4769611 c.132G>C p.E44D Substitution - Missense 20:34408712-34408712 + C0042T COSM2758020 c.337+1G>A p.? Unknown 20:34412640-34412640 + OSCC-GB_00960111 COSM4885499 c.704C>A p.A235D Substitution - Missense 20:34440179-34440179 + TCGA-AC-A23H-01 COSM443685 c.550G>A p.E184K Substitution - Missense 20:34438502-34438502 + TCGA-EK-A2RK-01 COSM4097782 c.894C>T p.H298H Substitution - coding silent 20:34442232-34442232 + PD4127a COSM161778 c.2152G>A p.E718K Substitution - Missense 20:34489324-34489324 + CHC892T COSM4797085 c.616G>A p.G206S Substitution - Missense 20:34438568-34438568 + TCGA-G4-6320-01 COSM3693445 c.245G>A p.R82H Substitution - Missense 20:34412547-34412547 + CHC798T COSM4950731 c.1585C>A p.P529T Substitution - Missense 20:34477787-34477787 + CHC798T COSM4950731 c.1585C>A p.P529T Substitution - Missense 20:34477787-34477787 + PD4127a COSM161777 c.2094-1G>T p.? Unknown 20:34489265-34489265 + TCGA-AX-A05Z-01 COSM1026034 c.2329G>T p.E777* Substitution - Nonsense 20:34492510-34492510 + TCGA-F4-6806-01 COSM1411293 c.337C>T p.L113F Substitution - Missense 20:34412639-34412639 + TCGA-EE-A3J7-06 COSM3911148 c.1659-1G>A p.? Unknown 20:34479629-34479629 + 8047881 COSM3389693 c.70+7T>C p.? Unknown 20:34393888-34393888 + DLD1 COSM4624232 c.98A>T p.K33M Substitution - Missense 20:34408678-34408678 + TCGA-AX-A05S-01 COSM1026022 c.474_475+2delAAGT p.? Unknown 20:34413878-34413881 + BD232T COSM5501571 c.46A>G p.M16V Substitution - Missense 20:34393857-34393857 + HCC75 COSM1615486 c.2094-3C>T p.? Unknown 20:34489263-34489263 + TCGA-FS-A1ZC-06 COSM3545533 c.1055C>T p.S352F Substitution - Missense 20:34445376-34445376 + CHC1152T COSM4440803 c.1423C>A p.L475I Substitution - Missense 20:34462220-34462220 + 99815 COSM94530 c.2236G>C p.E746Q Substitution - Missense 20:34489843-34489843 + PCSI_0083_Pa_X COSM2758045 c.1406G>A p.R469H Substitution - Missense 20:34462203-34462203 + Pat_26_B COSM5857715 c.5C>T p.S2F Substitution - Missense 20:34393816-34393816 + CHC892T COSM4797085 c.616G>A p.G206S Substitution - Missense 20:34438568-34438568 + SC_9057 COSM5573863 c.333_334insA p.L113fs*2 Insertion - Frameshift 20:34412635-34412636 + TCGA-A6-6780-01 COSM1411296 c.1405C>A p.R469S Substitution - Missense 20:34462202-34462202 + PTC-73C COSM4134461 c.1215G>C p.K405N Substitution - Missense 20:34457394-34457394 + TCGA-G2-A2EF-01 COSM1307299 c.596C>G p.S199C Substitution - Missense 20:34438548-34438548 + YUGURT COSM5391878 c.2041C>T p.P681S Substitution - Missense 20:34481154-34481154 + I2L-P7-Tumor-Organoid COSM1411297 c.1987T>C p.Y663H Substitution - Missense 20:34481100-34481100 + 587222 COSM1026034 c.2329G>T p.E777* Substitution - Nonsense 20:34492510-34492510 + TCGA-B5-A11E-01 COSM1026021 c.370G>T p.G124C Substitution - Missense 20:34413774-34413774 + BZ21 COSM5758587 c.1497+2T>C p.? Unknown 20:34470122-34470122 + 1047T COSM4963428 c.1818+8C>T p.? Unknown 20:34479797-34479797 + TCGA-D3-A2JF-06 COSM2758015 c.216C>T p.I72I Substitution - coding silent 20:34412518-34412518 + TCGA-D1-A16G-01 COSM1026032 c.2093+1G>T p.? Unknown 20:34481207-34481207 + TCGA-BG-A0W1-01 COSM1026028 c.1527T>A p.I509I Substitution - coding silent 20:34471473-34471473 + TCGA-CG-5726-01 COSM4097785 c.1996G>A p.V666I Substitution - Missense 20:34481109-34481109 + TCGA-BR-6452-01 COSM4097787 c.2214G>C p.E738D Substitution - Missense 20:34489386-34489386 + CHC1152T COSM4440803 c.1423C>A p.L475I Substitution - Missense 20:34462220-34462220 + LUAD-S01409 COSM346609 c.1488C>G p.F496L Substitution - Missense 20:34470111-34470111 + TCGA-CD-A4MG-01 COSM4097782 c.894C>T p.H298H Substitution - coding silent 20:34442232-34442232 + CHC2351T COSM4801255 c.570A>G p.E190E Substitution - coding silent 20:34438522-34438522 + ESCC_25 COSM5626797 c.949G>A p.E317K Substitution - Missense 20:34442287-34442287 + CSCC-38-T COSM4533207 c.1833G>A p.G611G Substitution - coding silent 20:34480613-34480613 + 24 COSM4777552 c.2143G>T p.A715S Substitution - Missense 20:34489315-34489315 + MB106X COSM87950 c.668_669insC p.R224fs*2 Insertion - Frameshift 20:34438620-34438621 + CHC2351T COSM4801255 c.570A>G p.E190E Substitution - coding silent 20:34438522-34438522 + TCGA-BR-6452-01 COSM4097781 c.649C>T p.R217* Substitution - Nonsense 20:34438601-34438601 + AOCS-094-1-1 COSM4136841 c.1944C>G p.I648M Substitution - Missense 20:34480724-34480724 + SC_9057 COSM5547821 c.276_280delTGTTT p.L94fs*9 Deletion - Frameshift 20:34412578-34412582 + T33 COSM1177843 c.409A>G p.I137V Substitution - Missense 20:34413813-34413813 + XHDG18 COSM4768784 c.1759T>G p.S587A Substitution - Missense 20:34479730-34479730 + S02246 COSM5679039 c.1030A>T p.T344S Substitution - Missense 20:34445351-34445351 + TCGA-AP-A0LM-01 COSM1026024 c.950A>C p.E317A Substitution - Missense 20:34442288-34442288 + T28 COSM5343579 c.852A>C p.Q284H Substitution - Missense 20:34440327-34440327 + 2492720 COSM5724377 c.2274C>T p.Y758Y Substitution - coding silent 20:34489881-34489881 + WSU-HN8 COSM4597501 c.987C>A p.N329K Substitution - Missense 20:34445308-34445308 + 8048316 COSM3389694 c.1004A>G p.Y335C Substitution - Missense 20:34445325-34445325 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.632272 20q11.22 606409

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer AAGT - SpliceDonorDeletion . c.475+3_475+6delAAGT 20 33001684 UCEC A C Missense p.E436D c.1308A>C 20 33049910 BRCA A C Synonymous p.R174R c.520A>C 20 33012330 RCCC ACTTCAAAGCAAA - Frameshift p.D486Gfs*18 c.1457_1469delACTTCAAAGCAAA 20 33057885 BLCA A G Missense p.I639V c.1915A>G 20 33068500 LUAD A G Missense p.K624E c.1870A>G 20 33068455 LUSC A G Missense p.N750S c.2249A>G 20 33077661 HNSC A G Missense p.Q7R c.20A>G 20 32981637 GBM A G Missense p.Y356C c.1067A>G 20 33033193 HNSC A G Synonymous p.S201S c.603A>G 20 33026360 RCCC A T Missense p.Q367H c.1101A>T 20 33033227 HNSC A T Synonymous p.A574A c.1722A>T 20 33067498 LUAD C A Missense p.S257Y c.770C>A 20 33028050 BLCA C A Missense p.T344K c.1031C>A 20 33033157 CM C - Frameshift p.P504Hfs*4 c.1511delC 20 33059261 ESCA - C Frameshift p.R469Pfs*50 c.1405dupC 20 33050004 LUAD CG AT Missense p.R495M c.1483_1484delinsAT 20 33057911 CM C G Missense p.P128A c.382C>G 20 33001592 CM C G Missense p.S199C c.596C>G 20 33026353 BLCA C G Synonymous p.V353V c.1059C>G 20 33033185 LUAD C T IntronicSNV . c.1658+33C>T 20 33065698 CM C T Missense p.P281S c.841C>T 20 33028121 LUAD C T Missense p.R833C c.2497C>T 20 33095507 BRCA C T Missense p.S157L c.470C>T 20 33001680 HNSC C T Missense p.S352F c.1055C>T 20 33033181 CM C T Missense p.S665F c.1994C>T 20 33068912 CM C T Nonsense p.R795* c.2383C>T 20 33080369 STAD C T Synonymous p.D182D c.546C>T 20 33026303 CM C T Synonymous p.F527F c.1581C>T 20 33065588 CM C T Synonymous p.I72I c.216C>T 20 33000324 CM C T Synonymous p.S665S c.1995C>T 20 33068913 LGG G A 3-UTRSNV . c.2586+2433G>A 20 33098029 CLL G A 3-UTRSNV . c.2586+49G>A 20 33095645 CM G A IntronicSNV . c.1425-3697G>A 20 33054156 STAD G A IntronicSNV . c.2489+790G>A 20 33092998 CLL G A Missense p.D408N c.1222G>A 20 33045206 HNSC G A Missense p.E184K c.550G>A 20 33026307 BRCA G A Missense p.E238K c.712G>A 20 33027992 BRCA G A Missense p.E718K c.2152G>A 20 33077129 BRCA G A Missense p.E738K c.2212G>A 20 33077189 CM G A Missense p.R759H c.2276G>A 20 33077688 UCEC G A SpliceAcceptorSNV . c.1659-1G>A 20 33067434 CM G C Missense p.E738Q c.2212G>C 20 33077189 BRCA G C Missense p.G189R c.565G>C 20 33026322 CM G T Missense p.L135F c.405G>T 20 33001615 LUAD G T Missense p.R174I c.521G>T 20 33012331 STAD G T Missense p.R534I c.1601G>T 20 33065608 CM G T SpliceAcceptorSNV . c.2094-1G>T 20 33077070 BRCA T C Synonymous p.R363R c.1089T>C 20 33033215 HNSC - TGGAGA IntronicInsertion . c.1425-2345_1425-2344insTGGAGA 20 33055508 CLL T - IntronicDeletion . c.1570-3delT 20 33065566 STAD