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 BLCA 20 23345818 23345818 + Silent SNP G G T TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chr20:23345818G>T c.798G>T c.(796-798)ccG>ccT p.P266P BLCA 20 23345885 23345885 + Missense_Mutation SNP G G C TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chr20:23345885G>C c.865G>C c.(865-867)Gag>Cag p.E289Q BLCA 20 23349524 23349524 + Missense_Mutation SNP G G A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 g.chr20:23349524G>A c.1585G>A c.(1585-1587)Gcc>Acc p.A529T BLCA 20 23350298 23350299 + Frame_Shift_Del DEL CA CA - TCGA-E7-A541-01A-11D-A26M-08 TCGA-E7-A541-10A-01D-A26K-08 g.chr20:23350298_23350299delCA c.1705_1706delCA c.(1705-1707)cacfs p.H569fs BLCA 20 23350750 23350750 + Nonsense_Mutation SNP G G A TCGA-FD-A6TD-01A-51D-A339-08 TCGA-FD-A6TD-10A-21D-A339-08 g.chr20:23350750G>A c.1808G>A c.(1807-1809)tGg>tAg p.W603* BLCA 20 23350821 23350821 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 g.chr20:23350821G>A c.1879G>A c.(1879-1881)Gaa>Aaa p.E627K BLCA 20 23351021 23351021 + Silent SNP G G C TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 g.chr20:23351021G>C c.2079G>C c.(2077-2079)ctG>ctC p.L693L BRCA 20 23345750 23345750 + Missense_Mutation SNP C C A TCGA-A2-A25D-01A-12D-A16D-09 TCGA-A2-A25D-10A-01D-A16D-09 g.chr20:23345750C>A c.730C>A c.(730-732)Ctc>Atc p.L244I BRCA 20 23349471 23349471 + Missense_Mutation SNP G G T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr20:23349471G>T c.1532G>T c.(1531-1533)aGa>aTa p.R511I BRCA 20 23350233 23350233 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 g.chr20:23350233A>G c.1640A>G c.(1639-1641)tAc>tGc p.Y547C BRCA 20 23350824 23350824 + Missense_Mutation SNP G G C TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr20:23350824G>C c.1882G>C c.(1882-1884)Gag>Cag p.E628Q BRCA 20 23350861 23350861 + Missense_Mutation SNP C C T TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 g.chr20:23350861C>T c.1919C>T c.(1918-1920)tCt>tTt p.S640F CHOL 20 23345235 23345235 + Missense_Mutation SNP G G T TCGA-W5-AA39-01A-11D-A417-09 TCGA-W5-AA39-10A-01D-A41A-09 g.chr20:23345235G>T c.215G>T c.(214-216)gGt>gTt p.G72V CHOL 20 23345474 23345474 + Missense_Mutation SNP A A G TCGA-W5-AA39-01A-11D-A417-09 TCGA-W5-AA39-10A-01D-A41A-09 g.chr20:23345474A>G c.454A>G c.(454-456)Agc>Ggc p.S152G CHOL 20 23345860 23345860 + Missense_Mutation SNP G G T TCGA-3X-AAVA-01A-11D-A417-09 TCGA-3X-AAVA-10A-01D-A41A-09 g.chr20:23345860G>T c.840G>T c.(838-840)gaG>gaT p.E280D CHOL 20 23349409 23349409 + Silent SNP T T C TCGA-3X-AAVE-01A-11D-A417-09 TCGA-3X-AAVE-10A-01D-A41A-09 g.chr20:23349409T>C c.1470T>C c.(1468-1470)ccT>ccC p.P490P COAD 20 23345027 23345030 + Frame_Shift_Del DEL AGCG AGCG - TCGA-A6-3809-01A-01W-0995-10 TCGA-A6-3809-11A-01W-0995-10 g.chr20:23345027_23345030delAGCG c.7_10delAGCG c.(7-12)agcggtfs p.SG3fs COAD 20 23345158 23345158 + Missense_Mutation SNP C C A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr20:23345158C>A c.138C>A c.(136-138)ttC>ttA p.F46L COAD 20 23345333 23345333 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr20:23345333C>T c.313C>T c.(313-315)Cgg>Tgg p.R105W COAD 20 23345612 23345612 + Missense_Mutation SNP C C T TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr20:23345612C>T c.592C>T c.(592-594)Ccg>Tcg p.P198S COAD 20 23345658 23345658 + Missense_Mutation SNP A A C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr20:23345658A>C c.638A>C c.(637-639)aAa>aCa p.K213T COAD 20 23345740 23345740 + Silent SNP T T C TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr20:23345740T>C c.720T>C c.(718-720)taT>taC p.Y240Y COAD 20 23345742 23345742 + Missense_Mutation SNP C C T TCGA-AD-6890-01A-11D-1924-10 TCGA-AD-6890-10A-01D-1924-10 g.chr20:23345742C>T c.722C>T c.(721-723)aCg>aTg p.T241M COAD 20 23346071 23346071 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr20:23346071G>A c.1051G>A c.(1051-1053)Gac>Aac p.D351N COAD 20 23346300 23346300 + Missense_Mutation SNP G G A TCGA-AA-3852-01A-01W-0900-09 TCGA-AA-3852-10A-01W-0900-09 g.chr20:23346300G>A c.1280G>A c.(1279-1281)cGc>cAc p.R427H COAD 20 23347653 23347654 + Frame_Shift_Ins INS - - A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr20:23347653_23347654insA c.1378_1379insA c.(1378-1380)gaafs p.E460fs COAD 20 23350274 23350274 + Missense_Mutation SNP G G A TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr20:23350274G>A c.1681G>A c.(1681-1683)Gcc>Acc p.A561T COAD 20 23350277 23350277 + Missense_Mutation SNP C C A TCGA-D5-6539-01A-11D-1719-10 TCGA-D5-6539-10A-01D-1719-10 g.chr20:23350277C>A c.1684C>A c.(1684-1686)Ctc>Atc p.L562I COAD 20 23350349 23350349 + Missense_Mutation SNP G G A TCGA-A6-6652-01A-11D-1771-10 TCGA-A6-6652-10A-01D-1771-10 g.chr20:23350349G>A c.1756G>A c.(1756-1758)Gac>Aac p.D586N COADREAD 20 23345027 23345030 + Frame_Shift_Del DEL AGCG AGCG - TCGA-A6-3809-01A-01W-0995-10 TCGA-A6-3809-11A-01W-0995-10 g.chr20:23345027_23345030delAGCG c.7_10delAGCG c.(7-12)agcggtfs p.SG3fs COADREAD 20 23345158 23345158 + Missense_Mutation SNP C C A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr20:23345158C>A c.138C>A c.(136-138)ttC>ttA p.F46L COADREAD 20 23345333 23345333 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr20:23345333C>T c.313C>T c.(313-315)Cgg>Tgg p.R105W COADREAD 20 23345612 23345612 + Missense_Mutation SNP C C T TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr20:23345612C>T c.592C>T c.(592-594)Ccg>Tcg p.P198S COADREAD 20 23345658 23345658 + Missense_Mutation SNP A A C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr20:23345658A>C c.638A>C c.(637-639)aAa>aCa p.K213T COADREAD 20 23345740 23345740 + Silent SNP T T C TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr20:23345740T>C c.720T>C c.(718-720)taT>taC p.Y240Y COADREAD 20 23345742 23345742 + Missense_Mutation SNP C C T TCGA-AD-6890-01A-11D-1924-10 TCGA-AD-6890-10A-01D-1924-10 g.chr20:23345742C>T c.722C>T c.(721-723)aCg>aTg p.T241M COADREAD 20 23346071 23346071 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr20:23346071G>A c.1051G>A c.(1051-1053)Gac>Aac p.D351N COADREAD 20 23346300 23346300 + Missense_Mutation SNP G G A TCGA-AA-3852-01A-01W-0900-09 TCGA-AA-3852-10A-01W-0900-09 g.chr20:23346300G>A c.1280G>A c.(1279-1281)cGc>cAc p.R427H COADREAD 20 23347653 23347654 + Frame_Shift_Ins INS - - A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr20:23347653_23347654insA c.1378_1379insA c.(1378-1380)gaafs p.E460fs COADREAD 20 23350274 23350274 + Missense_Mutation SNP G G A TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr20:23350274G>A c.1681G>A c.(1681-1683)Gcc>Acc p.A561T COADREAD 20 23350277 23350277 + Missense_Mutation SNP C C A TCGA-D5-6539-01A-11D-1719-10 TCGA-D5-6539-10A-01D-1719-10 g.chr20:23350277C>A c.1684C>A c.(1684-1686)Ctc>Atc p.L562I COADREAD 20 23350349 23350349 + Missense_Mutation SNP G G A TCGA-A6-6652-01A-11D-1771-10 TCGA-A6-6652-10A-01D-1771-10 g.chr20:23350349G>A c.1756G>A c.(1756-1758)Gac>Aac p.D586N DLBC 20 23350290 23350290 + Missense_Mutation SNP G G A TCGA-G8-6914-01A-11D-2210-10 TCGA-G8-6914-14A-01D-2210-10 g.chr20:23350290G>A c.1697G>A c.(1696-1698)cGc>cAc p.R566H ESCA 20 23345474 23345474 + Missense_Mutation SNP A A T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 g.chr20:23345474A>T c.454A>T c.(454-456)Agc>Tgc p.S152C ESCA 20 23345551 23345551 + Silent SNP C C G TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 g.chr20:23345551C>G c.531C>G c.(529-531)ctC>ctG p.L177L ESCA 20 23345574 23345577 + Frame_Shift_Del DEL GAGA GAGA - TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 g.chr20:23345574_23345577delGAGA c.554_557delGAGA c.(553-558)ggagagfs p.GE185fs ESCA 20 23347639 23347639 + Splice_Site SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr20:23347639G>T c.e3-1 ESCA 20 23349433 23349433 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 g.chr20:23349433G>T c.1494G>T c.(1492-1494)aaG>aaT p.K498N ESCA 20 23349538 23349538 + Silent SNP A A T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 g.chr20:23349538A>T c.1599A>T c.(1597-1599)tcA>tcT p.S533S ESCA 20 23350227 23350227 + Missense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 g.chr20:23350227G>T c.1634G>T c.(1633-1635)cGt>cTt p.R545L ESCA 20 23350283 23350283 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 g.chr20:23350283C>T c.1690C>T c.(1690-1692)Cgc>Tgc p.R564C GBMLGG 20 23345745 23345745 + Missense_Mutation SNP G G C TCGA-HT-7858-01A-11D-2395-08 TCGA-HT-7858-10A-01D-2396-08 g.chr20:23345745G>C c.725G>C c.(724-726)aGa>aCa p.R242T GBMLGG 20 23350797 23350797 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr20:23350797G>A c.1855G>A c.(1855-1857)Gga>Aga p.G619R GBMLGG 20 23350986 23350986 + Missense_Mutation SNP C C T TCGA-DU-6396-01A-11D-1705-08 TCGA-DU-6396-10A-01D-1705-08 g.chr20:23350986C>T c.2044C>T c.(2044-2046)Ctc>Ttc p.L682F HNSC 20 23345049 23345049 + Missense_Mutation SNP C C T TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 g.chr20:23345049C>T c.29C>T c.(28-30)tCc>tTc p.S10F HNSC 20 23345286 23345286 + Missense_Mutation SNP C C T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 g.chr20:23345286C>T c.266C>T c.(265-267)tCa>tTa p.S89L HNSC 20 23345441 23345441 + Nonsense_Mutation SNP C C T TCGA-CV-A6K1-01A-11D-A31L-08 TCGA-CV-A6K1-10A-01D-A31J-08 g.chr20:23345441C>T c.421C>T c.(421-423)Caa>Taa p.Q141* HNSC 20 23345471 23345471 + Missense_Mutation SNP G G T TCGA-CV-7242-01A-11D-2012-08 TCGA-CV-7242-10A-01D-2013-08 g.chr20:23345471G>T c.451G>T c.(451-453)Gtg>Ttg p.V151L HNSC 20 23346091 23346091 + Silent SNP C C T TCGA-P3-A6T4-01A-11D-A34J-08 TCGA-P3-A6T4-10A-01D-A34M-08 g.chr20:23346091C>T c.1071C>T c.(1069-1071)ttC>ttT p.F357F HNSC 20 23346248 23346248 + Frame_Shift_Del DEL G G - TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 g.chr20:23346248delG c.1228delG c.(1228-1230)ggcfs p.G410fs HNSC 20 23350773 23350773 + Missense_Mutation SNP G G A TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 g.chr20:23350773G>A c.1831G>A c.(1831-1833)Gat>Aat p.D611N KIPAN 20 23345062 23345062 + Silent SNP A A C TCGA-5P-A9K2-01A-11D-A42J-10 TCGA-5P-A9K2-10A-01D-A42M-10 g.chr20:23345062A>C c.42A>C c.(40-42)ccA>ccC p.P14P KIPAN 20 23345603 23345603 + Missense_Mutation SNP G G T TCGA-B0-4811-01A-01D-1501-10 TCGA-B0-4811-11A-02D-1501-10 g.chr20:23345603G>T c.583G>T c.(583-585)Gat>Tat p.D195Y KIPAN 20 23347703 23347703 + Silent SNP C C T TCGA-B0-5097-01A-01D-1421-08 TCGA-B0-5097-11A-01D-1421-08 g.chr20:23347703C>T c.1428C>T c.(1426-1428)caC>caT p.H476H KIPAN 20 23350858 23350858 + Missense_Mutation SNP T T G TCGA-CZ-5470-01A-01D-1501-10 TCGA-CZ-5470-11A-01D-1501-10 g.chr20:23350858T>G c.1916T>G c.(1915-1917)cTg>cGg p.L639R KIRC 20 23345603 23345603 + Missense_Mutation SNP G G T TCGA-B0-4811-01A-01D-1501-10 TCGA-B0-4811-11A-02D-1501-10 g.chr20:23345603G>T c.583G>T c.(583-585)Gat>Tat p.D195Y KIRC 20 23347703 23347703 + Silent SNP C C T TCGA-B0-5097-01A-01D-1421-08 TCGA-B0-5097-11A-01D-1421-08 g.chr20:23347703C>T c.1428C>T c.(1426-1428)caC>caT p.H476H KIRC 20 23350858 23350858 + Missense_Mutation SNP T T G TCGA-CZ-5470-01A-01D-1501-10 TCGA-CZ-5470-11A-01D-1501-10 g.chr20:23350858T>G c.1916T>G c.(1915-1917)cTg>cGg p.L639R KIRP 20 23345062 23345062 + Silent SNP A A C TCGA-5P-A9K2-01A-11D-A42J-10 TCGA-5P-A9K2-10A-01D-A42M-10 g.chr20:23345062A>C c.42A>C c.(40-42)ccA>ccC p.P14P LGG 20 23345745 23345745 + Missense_Mutation SNP G G C TCGA-HT-7858-01A-11D-2395-08 TCGA-HT-7858-10A-01D-2396-08 g.chr20:23345745G>C c.725G>C c.(724-726)aGa>aCa p.R242T LGG 20 23350797 23350797 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr20:23350797G>A c.1855G>A c.(1855-1857)Gga>Aga p.G619R LGG 20 23350986 23350986 + Missense_Mutation SNP C C T TCGA-DU-6396-01A-11D-1705-08 TCGA-DU-6396-10A-01D-1705-08 g.chr20:23350986C>T c.2044C>T c.(2044-2046)Ctc>Ttc p.L682F LIHC 20 23345190 23345190 + Missense_Mutation SNP G G A TCGA-DD-A1EE-01A-11D-A12Z-10 TCGA-DD-A1EE-10A-01D-A12Z-10 g.chr20:23345190G>A c.170G>A c.(169-171)aGc>aAc p.S57N LIHC 20 23345335 23345335 + Silent SNP G G T TCGA-EP-A2KA-01A-11D-A183-10 TCGA-EP-A2KA-10A-01D-A183-10 g.chr20:23345335G>T c.315G>T c.(313-315)cgG>cgT p.R105R LIHC 20 23345920 23345920 + Silent SNP A A G TCGA-DD-A119-01A-11D-A12Z-10 TCGA-DD-A119-10A-01D-A12Z-10 g.chr20:23345920A>G c.900A>G c.(898-900)gaA>gaG p.E300E LIHC 20 23345920 23345920 + Silent SNP A A G TCGA-DD-AADY-01A-11D-A40R-10 TCGA-DD-AADY-10A-01D-A40U-10 g.chr20:23345920A>G c.900A>G c.(898-900)gaA>gaG p.E300E LIHC 20 23350846 23350846 + Missense_Mutation SNP C C T TCGA-ED-A7PZ-01A-11D-A33Q-10 TCGA-ED-A7PZ-10A-01D-A33Q-10 g.chr20:23350846C>T c.1904C>T c.(1903-1905)tCg>tTg p.S635L LUAD 20 23345107 23345107 + Silent SNP C C T TCGA-17-Z045-01A-01W-0746-08 TCGA-17-Z045-11A-01W-0747-08 g.chr20:23345107C>T c.87C>T c.(85-87)caC>caT p.H29H LUAD 20 23345777 23345777 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 g.chr20:23345777G>T c.757G>T c.(757-759)Ggt>Tgt p.G253C LUAD 20 23346288 23346288 + Missense_Mutation SNP G G A TCGA-86-8280-01A-11D-2284-08 TCGA-86-8280-10A-01D-2284-08 g.chr20:23346288G>A c.1268G>A c.(1267-1269)cGg>cAg p.R423Q LUAD 20 23346382 23346382 + Missense_Mutation SNP G G A TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 g.chr20:23346382G>A c.1362G>A c.(1360-1362)atG>atA p.M454I LUAD 20 23350781 23350781 + Silent SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 g.chr20:23350781G>T c.1839G>T c.(1837-1839)tcG>tcT p.S613S LUAD 20 23350848 23350848 + Missense_Mutation SNP G G C TCGA-05-4398-01A-01D-1265-08 TCGA-05-4398-10A-01D-1265-08 g.chr20:23350848G>C c.1906G>C c.(1906-1908)Gat>Cat p.D636H LUSC 20 23345385 23345385 + Nonsense_Mutation SNP C C G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 g.chr20:23345385C>G c.365C>G c.(364-366)tCa>tGa p.S122* LUSC 20 23346140 23346140 + Missense_Mutation SNP G G A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 g.chr20:23346140G>A c.1120G>A c.(1120-1122)Gag>Aag p.E374K LUSC 20 23349405 23349405 + Missense_Mutation SNP G G C TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 g.chr20:23349405G>C c.1466G>C c.(1465-1467)aGa>aCa p.R489T OV 20 23350227 23350227 + Missense_Mutation SNP G G A TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 g.chr20:23350227G>A c.1634G>A c.(1633-1635)cGt>cAt p.R545H PAAD 20 23345148 23345148 + Missense_Mutation SNP G G A TCGA-H8-A6C1-01A-11D-A32N-08 TCGA-H8-A6C1-10A-01D-A32N-08 g.chr20:23345148G>A c.128G>A c.(127-129)cGc>cAc p.R43H PAAD 20 23345726 23345726 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr20:23345726C>T c.706C>T c.(706-708)Cct>Tct p.P236S PAAD 20 23346039 23346039 + Missense_Mutation SNP A A G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr20:23346039A>G c.1019A>G c.(1018-1020)cAc>cGc p.H340R PAAD 20 23350348 23350348 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr20:23350348C>T c.1755C>T c.(1753-1755)acC>acT p.T585T PAAD 20 23350364 23350364 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr20:23350364C>T c.1771C>T c.(1771-1773)Cgg>Tgg p.R591W PAAD 20 23350738 23350738 + Missense_Mutation SNP A A C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr20:23350738A>C c.1796A>C c.(1795-1797)aAg>aCg p.K599T PRAD 20 23347711 23347711 + Missense_Mutation SNP T T A TCGA-XA-A8JR-01A-11D-A364-08 TCGA-XA-A8JR-10A-01D-A362-08 g.chr20:23347711T>A c.1436T>A c.(1435-1437)aTt>aAt p.I479N SARC 20 23345161 23345161 + Missense_Mutation SNP G G A TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 g.chr20:23345161G>A c.141G>A c.(139-141)atG>atA p.M47I SKCM 20 23345093 23345093 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr20:23345093C>T c.73C>T c.(73-75)Cgc>Tgc p.R25C SKCM 20 23345626 23345626 + Silent SNP G G A TCGA-EE-A2MN-06A-11D-A197-08 TCGA-EE-A2MN-10A-01D-A199-08 g.chr20:23345626G>A c.606G>A c.(604-606)aaG>aaA p.K202K SKCM 20 23346017 23346017 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr20:23346017C>T c.997C>T c.(997-999)Ctg>Ttg p.L333L SKCM 20 23349486 23349486 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 g.chr20:23349486C>T c.1547C>T c.(1546-1548)tCc>tTc p.S516F SKCM 20 23350250 23350250 + Missense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 g.chr20:23350250G>A c.1657G>A c.(1657-1659)Ggc>Agc p.G553S

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 23345078 23345078 single base substitution G A intron_variant BLCA-CN 20 23345078 23345078 single base substitution G A missense_variant E20K 58G>A BLCA-CN 20 23345078 23345078 single base substitution G A upstream_gene_variant BLCA-CN 20 23345774 23345774 single base substitution G A downstream_gene_variant BLCA-CN 20 23345774 23345774 single base substitution G A intron_variant BLCA-CN 20 23345774 23345774 single base substitution G A missense_variant E252K 754G>A BLCA-CN 20 23345774 23345774 single base substitution G A upstream_gene_variant BLCA-US 20 23350821 23350821 single base substitution G A downstream_gene_variant BLCA-US 20 23350821 23350821 single base substitution G A exon_variant BLCA-US 20 23350821 23350821 single base substitution G A missense_variant E136K 406G>A BLCA-US 20 23350821 23350821 single base substitution G A missense_variant E151K 451G>A BLCA-US 20 23350821 23350821 single base substitution G A missense_variant E627K 1879G>A BLCA-US 20 23351021 23351021 single base substitution G C downstream_gene_variant BLCA-US 20 23351021 23351021 single base substitution G C exon_variant BLCA-US 20 23351021 23351021 single base substitution G C synonymous_variant L202L 606G>C BLCA-US 20 23351021 23351021 single base substitution G C synonymous_variant L217L 651G>C BLCA-US 20 23351021 23351021 single base substitution G C synonymous_variant L693L 2079G>C BRCA-EU 20 23341216 23341216 single base substitution G T upstream_gene_variant BRCA-EU 20 23341827 23341827 single base substitution C G upstream_gene_variant BRCA-EU 20 23342708 23342708 single base substitution C T upstream_gene_variant BRCA-EU 20 23342774 23342774 single base substitution G T upstream_gene_variant BRCA-EU 20 23342775 23342775 single base substitution C A upstream_gene_variant BRCA-EU 20 23343460 23343460 single base substitution G C 5_prime_UTR_variant BRCA-EU 20 23343460 23343460 single base substitution G C intron_variant BRCA-EU 20 23343460 23343460 single base substitution G C upstream_gene_variant BRCA-EU 20 23343571 23343571 single base substitution G T intron_variant BRCA-EU 20 23343571 23343571 single base substitution G T upstream_gene_variant BRCA-EU 20 23346370 23346370 single base substitution C G downstream_gene_variant BRCA-EU 20 23346370 23346370 single base substitution C G exon_variant BRCA-EU 20 23346370 23346370 single base substitution C G intron_variant BRCA-EU 20 23346370 23346370 single base substitution C G synonymous_variant L450L 1350C>G BRCA-EU 20 23346370 23346370 single base substitution C G upstream_gene_variant BRCA-EU 20 23346622 23346622 single base substitution G A downstream_gene_variant BRCA-EU 20 23346622 23346622 single base substitution G A intron_variant BRCA-EU 20 23346622 23346622 single base substitution G A upstream_gene_variant BRCA-EU 20 23347623 23347623 single base substitution G A downstream_gene_variant BRCA-EU 20 23347623 23347623 single base substitution G A intron_variant BRCA-EU 20 23347623 23347623 single base substitution G A upstream_gene_variant BRCA-EU 20 23348787 23348787 single base substitution G A downstream_gene_variant BRCA-EU 20 23348787 23348787 single base substitution G A intron_variant BRCA-EU 20 23348787 23348787 single base substitution G A upstream_gene_variant BRCA-EU 20 23348964 23348964 single base substitution C G downstream_gene_variant BRCA-EU 20 23348964 23348964 single base substitution C G intron_variant BRCA-EU 20 23348964 23348964 single base substitution C G upstream_gene_variant BRCA-EU 20 23350912 23350912 single base substitution T A downstream_gene_variant BRCA-EU 20 23350912 23350912 single base substitution T A exon_variant BRCA-EU 20 23350912 23350912 single base substitution T A missense_variant V166E 497T>A BRCA-EU 20 23350912 23350912 single base substitution T A missense_variant V181E 542T>A BRCA-EU 20 23350912 23350912 single base substitution T A missense_variant V657E 1970T>A BRCA-EU 20 23351843 23351843 single base substitution A G 3_prime_UTR_variant BRCA-EU 20 23351843 23351843 single base substitution A G downstream_gene_variant BRCA-EU 20 23351860 23351860 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU 20 23351860 23351860 deletion of <=200bp T - downstream_gene_variant BRCA-EU 20 23351957 23351957 single base substitution G A 3_prime_UTR_variant BRCA-EU 20 23351957 23351957 single base substitution G A downstream_gene_variant BRCA-EU 20 23356197 23356197 single base substitution G C downstream_gene_variant BRCA-EU 20 23356356 23356356 deletion of <=200bp C - downstream_gene_variant BRCA-EU 20 23357126 23357126 single base substitution A G downstream_gene_variant BRCA-EU 20 23357777 23357777 single base substitution G C downstream_gene_variant BRCA-EU 20 23357822 23357822 single base substitution C G downstream_gene_variant BRCA-EU 20 23357828 23357828 single base substitution A C downstream_gene_variant BRCA-EU 20 23358432 23358432 single base substitution T A downstream_gene_variant BRCA-FR 20 23344572 23344572 single base substitution G A intron_variant BRCA-FR 20 23344572 23344572 single base substitution G A upstream_gene_variant BRCA-FR 20 23348964 23348964 single base substitution C G downstream_gene_variant BRCA-FR 20 23348964 23348964 single base substitution C G intron_variant BRCA-FR 20 23348964 23348964 single base substitution C G upstream_gene_variant BRCA-FR 20 23349186 23349186 single base substitution C A downstream_gene_variant BRCA-FR 20 23349186 23349186 single base substitution C A intron_variant BRCA-FR 20 23349186 23349186 single base substitution C A upstream_gene_variant BRCA-US 20 23345750 23345750 single base substitution C A downstream_gene_variant BRCA-US 20 23345750 23345750 single base substitution C A intron_variant BRCA-US 20 23345750 23345750 single base substitution C A missense_variant L244I 730C>A BRCA-US 20 23345750 23345750 single base substitution C A upstream_gene_variant BRCA-US 20 23349471 23349471 single base substitution G T downstream_gene_variant BRCA-US 20 23349471 23349471 single base substitution G T exon_variant BRCA-US 20 23349471 23349471 single base substitution G T missense_variant R20I 59G>T BRCA-US 20 23349471 23349471 single base substitution G T missense_variant R35I 104G>T BRCA-US 20 23349471 23349471 single base substitution G T missense_variant R511I 1532G>T BRCA-US 20 23349471 23349471 single base substitution G T upstream_gene_variant BRCA-US 20 23350233 23350233 single base substitution A G downstream_gene_variant BRCA-US 20 23350233 23350233 single base substitution A G intron_variant BRCA-US 20 23350233 23350233 single base substitution A G missense_variant Y547C 1640A>G BRCA-US 20 23350233 23350233 single base substitution A G missense_variant Y56C 167A>G BRCA-US 20 23350233 23350233 single base substitution A G missense_variant Y71C 212A>G BRCA-US 20 23350824 23350824 single base substitution G C downstream_gene_variant BRCA-US 20 23350824 23350824 single base substitution G C exon_variant BRCA-US 20 23350824 23350824 single base substitution G C missense_variant E137Q 409G>C BRCA-US 20 23350824 23350824 single base substitution G C missense_variant E152Q 454G>C BRCA-US 20 23350824 23350824 single base substitution G C missense_variant E628Q 1882G>C BRCA-US 20 23350861 23350861 single base substitution C T downstream_gene_variant BRCA-US 20 23350861 23350861 single base substitution C T exon_variant BRCA-US 20 23350861 23350861 single base substitution C T missense_variant S149F 446C>T BRCA-US 20 23350861 23350861 single base substitution C T missense_variant S164F 491C>T BRCA-US 20 23350861 23350861 single base substitution C T missense_variant S640F 1919C>T BTCA-JP 20 23345553 23345553 single base substitution C T downstream_gene_variant BTCA-JP 20 23345553 23345553 single base substitution C T intron_variant BTCA-JP 20 23345553 23345553 single base substitution C T missense_variant T178M 533C>T BTCA-JP 20 23345553 23345553 single base substitution C T upstream_gene_variant BTCA-JP 20 23350293 23350293 single base substitution G A downstream_gene_variant BTCA-JP 20 23350293 23350293 single base substitution G A intron_variant BTCA-JP 20 23350293 23350293 single base substitution G A missense_variant R567H 1700G>A BTCA-JP 20 23350293 23350293 single base substitution G A missense_variant R76H 227G>A BTCA-JP 20 23350293 23350293 single base substitution G A missense_variant R91H 272G>A CLLE-ES 20 23339341 23339341 insertion of <=200bp - T upstream_gene_variant COAD-US 20 23345158 23345158 single base substitution C A intron_variant COAD-US 20 23345158 23345158 single base substitution C A missense_variant F46L 138C>A COAD-US 20 23345158 23345158 single base substitution C A upstream_gene_variant COAD-US 20 23345333 23345333 single base substitution C T downstream_gene_variant COAD-US 20 23345333 23345333 single base substitution C T intron_variant COAD-US 20 23345333 23345333 single base substitution C T missense_variant R105W 313C>T COAD-US 20 23345333 23345333 single base substitution C T upstream_gene_variant COAD-US 20 23345658 23345658 single base substitution A C downstream_gene_variant COAD-US 20 23345658 23345658 single base substitution A C intron_variant COAD-US 20 23345658 23345658 single base substitution A C missense_variant K213T 638A>C COAD-US 20 23345658 23345658 single base substitution A C upstream_gene_variant COAD-US 20 23345742 23345742 single base substitution C T downstream_gene_variant COAD-US 20 23345742 23345742 single base substitution C T intron_variant COAD-US 20 23345742 23345742 single base substitution C T missense_variant T241M 722C>T COAD-US 20 23345742 23345742 single base substitution C T upstream_gene_variant COAD-US 20 23345844 23345844 single base substitution A C downstream_gene_variant COAD-US 20 23345844 23345844 single base substitution A C intron_variant COAD-US 20 23345844 23345844 single base substitution A C missense_variant Q275P 824A>C COAD-US 20 23345844 23345844 single base substitution A C upstream_gene_variant COAD-US 20 23345952 23345954 deletion of <=200bp AGA - downstream_gene_variant COAD-US 20 23345952 23345954 deletion of <=200bp AGA - exon_variant COAD-US 20 23345952 23345954 deletion of <=200bp AGA - inframe_deletion EK311E COAD-US 20 23345952 23345954 deletion of <=200bp AGA - intron_variant COAD-US 20 23345952 23345954 deletion of <=200bp AGA - upstream_gene_variant COAD-US 20 23347653 23347653 insertion of <=200bp - A 5_prime_UTR_variant COAD-US 20 23347653 23347653 insertion of <=200bp - A downstream_gene_variant COAD-US 20 23347653 23347653 insertion of <=200bp - A frameshift_variant E460R? COAD-US 20 23347653 23347653 insertion of <=200bp - A intron_variant COAD-US 20 23347653 23347653 insertion of <=200bp - A upstream_gene_variant COAD-US 20 23350274 23350274 single base substitution G A downstream_gene_variant COAD-US 20 23350274 23350274 single base substitution G A intron_variant COAD-US 20 23350274 23350274 single base substitution G A missense_variant A561T 1681G>A COAD-US 20 23350274 23350274 single base substitution G A missense_variant A70T 208G>A COAD-US 20 23350274 23350274 single base substitution G A missense_variant A85T 253G>A COAD-US 20 23350277 23350277 single base substitution C A downstream_gene_variant COAD-US 20 23350277 23350277 single base substitution C A intron_variant COAD-US 20 23350277 23350277 single base substitution C A missense_variant L562I 1684C>A COAD-US 20 23350277 23350277 single base substitution C A missense_variant L71I 211C>A COAD-US 20 23350277 23350277 single base substitution C A missense_variant L86I 256C>A COAD-US 20 23350349 23350349 single base substitution G A downstream_gene_variant COAD-US 20 23350349 23350349 single base substitution G A intron_variant COAD-US 20 23350349 23350349 single base substitution G A missense_variant D110N 328G>A COAD-US 20 23350349 23350349 single base substitution G A missense_variant D586N 1756G>A COAD-US 20 23350349 23350349 single base substitution G A missense_variant D95N 283G>A COCA-CN 20 23346317 23346317 single base substitution C T downstream_gene_variant COCA-CN 20 23346317 23346317 single base substitution C T exon_variant COCA-CN 20 23346317 23346317 single base substitution C T intron_variant COCA-CN 20 23346317 23346317 single base substitution C T missense_variant R433W 1297C>T COCA-CN 20 23346317 23346317 single base substitution C T upstream_gene_variant COCA-CN 20 23346480 23346480 single base substitution C A downstream_gene_variant COCA-CN 20 23346480 23346480 single base substitution C A intron_variant COCA-CN 20 23346480 23346480 single base substitution C A upstream_gene_variant COCA-CN 20 23350525 23350525 single base substitution C T downstream_gene_variant COCA-CN 20 23350525 23350525 single base substitution C T intron_variant COCA-CN 20 23350739 23350739 single base substitution G T downstream_gene_variant COCA-CN 20 23350739 23350739 single base substitution G T exon_variant COCA-CN 20 23350739 23350739 single base substitution G T missense_variant K108N 324G>T COCA-CN 20 23350739 23350739 single base substitution G T missense_variant K123N 369G>T COCA-CN 20 23350739 23350739 single base substitution G T missense_variant K599N 1797G>T EOPC-DE 20 23353904 23353904 single base substitution T C downstream_gene_variant ESAD-UK 20 23338573 23338573 single base substitution C A upstream_gene_variant ESAD-UK 20 23339585 23339585 single base substitution T A upstream_gene_variant ESAD-UK 20 23341442 23341442 single base substitution C T upstream_gene_variant ESAD-UK 20 23341969 23341969 single base substitution G A upstream_gene_variant ESAD-UK 20 23344399 23344399 single base substitution G C intron_variant ESAD-UK 20 23344399 23344399 single base substitution G C upstream_gene_variant ESAD-UK 20 23349005 23349005 single base substitution C G downstream_gene_variant ESAD-UK 20 23349005 23349005 single base substitution C G intron_variant ESAD-UK 20 23349005 23349005 single base substitution C G upstream_gene_variant ESAD-UK 20 23349879 23349879 single base substitution T A downstream_gene_variant ESAD-UK 20 23349879 23349879 single base substitution T A intron_variant ESAD-UK 20 23358004 23358004 insertion of <=200bp - A downstream_gene_variant ESAD-UK 20 23358421 23358421 single base substitution T C downstream_gene_variant ESCA-CN 20 23345069 23345069 single base substitution C T intron_variant ESCA-CN 20 23345069 23345069 single base substitution C T synonymous_variant L17L 49C>T ESCA-CN 20 23345069 23345069 single base substitution C T upstream_gene_variant ESCA-CN 20 23345385 23345385 single base substitution C G downstream_gene_variant ESCA-CN 20 23345385 23345385 single base substitution C G intron_variant ESCA-CN 20 23345385 23345385 single base substitution C G stop_gained S122* 365C>G ESCA-CN 20 23345385 23345385 single base substitution C G upstream_gene_variant ESCA-CN 20 23350525 23350525 single base substitution C T downstream_gene_variant ESCA-CN 20 23350525 23350525 single base substitution C T intron_variant KIRC-US 20 23345603 23345603 single base substitution G T downstream_gene_variant KIRC-US 20 23345603 23345603 single base substitution G T intron_variant KIRC-US 20 23345603 23345603 single base substitution G T missense_variant D195Y 583G>T KIRC-US 20 23345603 23345603 single base substitution G T upstream_gene_variant KIRC-US 20 23347703 23347703 single base substitution C T 5_prime_UTR_variant KIRC-US 20 23347703 23347703 single base substitution C T downstream_gene_variant KIRC-US 20 23347703 23347703 single base substitution C T intron_variant KIRC-US 20 23347703 23347703 single base substitution C T synonymous_variant H476H 1428C>T KIRC-US 20 23347703 23347703 single base substitution C T upstream_gene_variant KIRC-US 20 23350858 23350858 single base substitution T G downstream_gene_variant KIRC-US 20 23350858 23350858 single base substitution T G exon_variant KIRC-US 20 23350858 23350858 single base substitution T G missense_variant L148R 443T>G KIRC-US 20 23350858 23350858 single base substitution T G missense_variant L163R 488T>G KIRC-US 20 23350858 23350858 single base substitution T G missense_variant L639R 1916T>G LGG-US 20 23345745 23345745 single base substitution G C downstream_gene_variant LGG-US 20 23345745 23345745 single base substitution G C intron_variant LGG-US 20 23345745 23345745 single base substitution G C missense_variant R242T 725G>C LGG-US 20 23345745 23345745 single base substitution G C upstream_gene_variant LGG-US 20 23345921 23345923 deletion of <=200bp GAG - downstream_gene_variant LGG-US 20 23345921 23345923 deletion of <=200bp GAG - exon_variant LGG-US 20 23345921 23345923 deletion of <=200bp GAG - inframe_deletion E301 LGG-US 20 23345921 23345923 deletion of <=200bp GAG - intron_variant LGG-US 20 23345921 23345923 deletion of <=200bp GAG - upstream_gene_variant LGG-US 20 23350986 23350986 single base substitution C T downstream_gene_variant LGG-US 20 23350986 23350986 single base substitution C T exon_variant LGG-US 20 23350986 23350986 single base substitution C T missense_variant L191F 571C>T LGG-US 20 23350986 23350986 single base substitution C T missense_variant L206F 616C>T LGG-US 20 23350986 23350986 single base substitution C T missense_variant L682F 2044C>T LICA-FR 20 23345433 23345433 single base substitution T C downstream_gene_variant LICA-FR 20 23345433 23345433 single base substitution T C intron_variant LICA-FR 20 23345433 23345433 single base substitution T C missense_variant L138S 413T>C LICA-FR 20 23345433 23345433 single base substitution T C upstream_gene_variant LICA-FR 20 23345946 23345946 single base substitution A T downstream_gene_variant LICA-FR 20 23345946 23345946 single base substitution A T exon_variant LICA-FR 20 23345946 23345946 single base substitution A T intron_variant LICA-FR 20 23345946 23345946 single base substitution A T missense_variant E309V 926A>T LICA-FR 20 23345946 23345946 single base substitution A T upstream_gene_variant LICA-FR 20 23345952 23345952 insertion of <=200bp - A downstream_gene_variant LICA-FR 20 23345952 23345952 insertion of <=200bp - A exon_variant LICA-FR 20 23345952 23345952 insertion of <=200bp - A frameshift_variant E311E? LICA-FR 20 23345952 23345952 insertion of <=200bp - A intron_variant LICA-FR 20 23345952 23345952 insertion of <=200bp - A upstream_gene_variant LICA-FR 20 23353128 23353128 single base substitution C G 3_prime_UTR_variant LICA-FR 20 23353128 23353128 single base substitution C G downstream_gene_variant LICA-FR 20 23354896 23354896 single base substitution G A downstream_gene_variant LICA-FR 20 23357992 23357992 single base substitution T C downstream_gene_variant LIHC-US 20 23345335 23345335 single base substitution G T downstream_gene_variant LIHC-US 20 23345335 23345335 single base substitution G T intron_variant LIHC-US 20 23345335 23345335 single base substitution G T synonymous_variant R105R 315G>T LIHC-US 20 23345335 23345335 single base substitution G T upstream_gene_variant LIHC-US 20 23350846 23350846 single base substitution C T downstream_gene_variant LIHC-US 20 23350846 23350846 single base substitution C T exon_variant LIHC-US 20 23350846 23350846 single base substitution C T missense_variant S144L 431C>T LIHC-US 20 23350846 23350846 single base substitution C T missense_variant S159L 476C>T LIHC-US 20 23350846 23350846 single base substitution C T missense_variant S635L 1904C>T LINC-JP 20 23345123 23345123 single base substitution G A intron_variant LINC-JP 20 23345123 23345123 single base substitution G A missense_variant V35I 103G>A LINC-JP 20 23345123 23345123 single base substitution G A upstream_gene_variant LINC-JP 20 23345400 23345400 single base substitution A C downstream_gene_variant LINC-JP 20 23345400 23345400 single base substitution A C intron_variant LINC-JP 20 23345400 23345400 single base substitution A C missense_variant Q127P 380A>C LINC-JP 20 23345400 23345400 single base substitution A C upstream_gene_variant LINC-JP 20 23345406 23345406 single base substitution A G downstream_gene_variant LINC-JP 20 23345406 23345406 single base substitution A G intron_variant LINC-JP 20 23345406 23345406 single base substitution A G missense_variant K129R 386A>G LINC-JP 20 23345406 23345406 single base substitution A G upstream_gene_variant LINC-JP 20 23345802 23345802 single base substitution C T downstream_gene_variant LINC-JP 20 23345802 23345802 single base substitution C T intron_variant LINC-JP 20 23345802 23345802 single base substitution C T missense_variant P261L 782C>T LINC-JP 20 23345802 23345802 single base substitution C T upstream_gene_variant LINC-JP 20 23349143 23349143 single base substitution T A downstream_gene_variant LINC-JP 20 23349143 23349143 single base substitution T A intron_variant LINC-JP 20 23349143 23349143 single base substitution T A upstream_gene_variant LIRI-JP 20 23339849 23339849 single base substitution G T upstream_gene_variant LIRI-JP 20 23341279 23341279 single base substitution A G upstream_gene_variant LIRI-JP 20 23345317 23345317 single base substitution A G downstream_gene_variant LIRI-JP 20 23345317 23345317 single base substitution A G intron_variant LIRI-JP 20 23345317 23345317 single base substitution A G synonymous_variant V99V 297A>G LIRI-JP 20 23345317 23345317 single base substitution A G upstream_gene_variant LIRI-JP 20 23346853 23346853 single base substitution A G downstream_gene_variant LIRI-JP 20 23346853 23346853 single base substitution A G intron_variant LIRI-JP 20 23346853 23346853 single base substitution A G upstream_gene_variant LIRI-JP 20 23348198 23348198 single base substitution T A downstream_gene_variant LIRI-JP 20 23348198 23348198 single base substitution T A intron_variant LIRI-JP 20 23348198 23348198 single base substitution T A upstream_gene_variant LIRI-JP 20 23348307 23348307 deletion of <=200bp A - downstream_gene_variant LIRI-JP 20 23348307 23348307 deletion of <=200bp A - intron_variant LIRI-JP 20 23348307 23348307 deletion of <=200bp A - upstream_gene_variant LIRI-JP 20 23349970 23349970 single base substitution G T downstream_gene_variant LIRI-JP 20 23349970 23349970 single base substitution G T intron_variant LIRI-JP 20 23350063 23350063 single base substitution T C downstream_gene_variant LIRI-JP 20 23350063 23350063 single base substitution T C intron_variant LIRI-JP 20 23350854 23350854 single base substitution T C downstream_gene_variant LIRI-JP 20 23350854 23350854 single base substitution T C exon_variant LIRI-JP 20 23350854 23350854 single base substitution T C synonymous_variant L147L 439T>C LIRI-JP 20 23350854 23350854 single base substitution T C synonymous_variant L162L 484T>C LIRI-JP 20 23350854 23350854 single base substitution T C synonymous_variant L638L 1912T>C LIRI-JP 20 23351507 23351507 single base substitution A G 3_prime_UTR_variant LIRI-JP 20 23351507 23351507 single base substitution A G downstream_gene_variant LIRI-JP 20 23351582 23351582 single base substitution T G 3_prime_UTR_variant LIRI-JP 20 23351582 23351582 single base substitution T G downstream_gene_variant LIRI-JP 20 23351715 23351715 single base substitution T C 3_prime_UTR_variant LIRI-JP 20 23351715 23351715 single base substitution T C downstream_gene_variant LIRI-JP 20 23352911 23352911 single base substitution T C 3_prime_UTR_variant LIRI-JP 20 23352911 23352911 single base substitution T C downstream_gene_variant LIRI-JP 20 23352956 23352956 single base substitution T C 3_prime_UTR_variant LIRI-JP 20 23352956 23352956 single base substitution T C downstream_gene_variant LUSC-KR 20 23338877 23338877 single base substitution A G upstream_gene_variant LUSC-KR 20 23345679 23345679 single base substitution G T downstream_gene_variant LUSC-KR 20 23345679 23345679 single base substitution G T intron_variant LUSC-KR 20 23345679 23345679 single base substitution G T missense_variant R220M 659G>T LUSC-KR 20 23345679 23345679 single base substitution G T upstream_gene_variant LUSC-KR 20 23350490 23350490 single base substitution T C downstream_gene_variant LUSC-KR 20 23350490 23350490 single base substitution T C intron_variant LUSC-KR 20 23350790 23350790 single base substitution C T downstream_gene_variant LUSC-KR 20 23350790 23350790 single base substitution C T exon_variant LUSC-KR 20 23350790 23350790 single base substitution C T synonymous_variant N125N 375C>T LUSC-KR 20 23350790 23350790 single base substitution C T synonymous_variant N140N 420C>T LUSC-KR 20 23350790 23350790 single base substitution C T synonymous_variant N616N 1848C>T LUSC-KR 20 23351333 23351333 single base substitution G T 3_prime_UTR_variant LUSC-KR 20 23351333 23351333 single base substitution G T downstream_gene_variant LUSC-KR 20 23353397 23353397 single base substitution A C 3_prime_UTR_variant LUSC-KR 20 23353397 23353397 single base substitution A C downstream_gene_variant LUSC-US 20 23345385 23345385 single base substitution C G downstream_gene_variant LUSC-US 20 23345385 23345385 single base substitution C G intron_variant LUSC-US 20 23345385 23345385 single base substitution C G stop_gained S122* 365C>G LUSC-US 20 23345385 23345385 single base substitution C G upstream_gene_variant LUSC-US 20 23346140 23346140 single base substitution G A downstream_gene_variant LUSC-US 20 23346140 23346140 single base substitution G A exon_variant LUSC-US 20 23346140 23346140 single base substitution G A intron_variant LUSC-US 20 23346140 23346140 single base substitution G A missense_variant E374K 1120G>A LUSC-US 20 23346140 23346140 single base substitution G A upstream_gene_variant LUSC-US 20 23349405 23349405 single base substitution G C 5_prime_UTR_variant LUSC-US 20 23349405 23349405 single base substitution G C downstream_gene_variant LUSC-US 20 23349405 23349405 single base substitution G C exon_variant LUSC-US 20 23349405 23349405 single base substitution G C missense_variant R13T 38G>C LUSC-US 20 23349405 23349405 single base substitution G C missense_variant R489T 1466G>C LUSC-US 20 23349405 23349405 single base substitution G C upstream_gene_variant MALY-DE 20 23342400 23342400 single base substitution G A upstream_gene_variant MALY-DE 20 23349902 23349902 insertion of <=200bp - AT downstream_gene_variant MALY-DE 20 23349902 23349902 insertion of <=200bp - AT intron_variant MALY-DE 20 23355375 23355375 single base substitution G A downstream_gene_variant MELA-AU 20 23337801 23337801 single base substitution C T upstream_gene_variant MELA-AU 20 23337818 23337818 single base substitution C T upstream_gene_variant MELA-AU 20 23337969 23337969 single base substitution C T upstream_gene_variant MELA-AU 20 23338012 23338012 single base substitution C T upstream_gene_variant MELA-AU 20 23338051 23338051 single base substitution C T upstream_gene_variant MELA-AU 20 23338148 23338148 single base substitution C T upstream_gene_variant MELA-AU 20 23338751 23338751 single base substitution C T upstream_gene_variant MELA-AU 20 23338815 23338815 single base substitution C T upstream_gene_variant MELA-AU 20 23338836 23338836 single base substitution G A upstream_gene_variant MELA-AU 20 23338856 23338856 single base substitution C T upstream_gene_variant MELA-AU 20 23338876 23338876 single base substitution C T upstream_gene_variant MELA-AU 20 23338925 23338925 single base substitution G A upstream_gene_variant MELA-AU 20 23340743 23340743 single base substitution G A upstream_gene_variant MELA-AU 20 23342451 23342451 single base substitution G A upstream_gene_variant MELA-AU 20 23342455 23342455 single base substitution C T upstream_gene_variant MELA-AU 20 23342602 23342602 single base substitution C T upstream_gene_variant MELA-AU 20 23342745 23342746 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 20 23343686 23343686 single base substitution C T intron_variant MELA-AU 20 23343686 23343686 single base substitution C T upstream_gene_variant MELA-AU 20 23345626 23345626 single base substitution G A downstream_gene_variant MELA-AU 20 23345626 23345626 single base substitution G A intron_variant MELA-AU 20 23345626 23345626 single base substitution G A synonymous_variant K202K 606G>A MELA-AU 20 23345626 23345626 single base substitution G A upstream_gene_variant MELA-AU 20 23346507 23346507 single base substitution C T downstream_gene_variant MELA-AU 20 23346507 23346507 single base substitution C T intron_variant MELA-AU 20 23346507 23346507 single base substitution C T upstream_gene_variant MELA-AU 20 23347447 23347447 single base substitution G A downstream_gene_variant MELA-AU 20 23347447 23347447 single base substitution G A intron_variant MELA-AU 20 23347447 23347447 single base substitution G A upstream_gene_variant MELA-AU 20 23347770 23347770 single base substitution C T downstream_gene_variant MELA-AU 20 23347770 23347770 single base substitution C T intron_variant MELA-AU 20 23347770 23347770 single base substitution C T upstream_gene_variant MELA-AU 20 23348549 23348549 single base substitution T A downstream_gene_variant MELA-AU 20 23348549 23348549 single base substitution T A intron_variant MELA-AU 20 23348549 23348549 single base substitution T A upstream_gene_variant MELA-AU 20 23349568 23349568 single base substitution T A downstream_gene_variant MELA-AU 20 23349568 23349568 single base substitution T A splice_donor_variant MELA-AU 20 23349783 23349783 single base substitution C T downstream_gene_variant MELA-AU 20 23349783 23349783 single base substitution C T intron_variant MELA-AU 20 23350334 23350334 single base substitution G A downstream_gene_variant MELA-AU 20 23350334 23350334 single base substitution G A intron_variant MELA-AU 20 23350334 23350334 single base substitution G A missense_variant G105R 313G>A MELA-AU 20 23350334 23350334 single base substitution G A missense_variant G581R 1741G>A MELA-AU 20 23350334 23350334 single base substitution G A missense_variant G90R 268G>A MELA-AU 20 23350519 23350519 single base substitution C G downstream_gene_variant MELA-AU 20 23350519 23350519 single base substitution C G intron_variant MELA-AU 20 23352015 23352015 single base substitution G A 3_prime_UTR_variant MELA-AU 20 23352015 23352015 single base substitution G A downstream_gene_variant MELA-AU 20 23352721 23352721 single base substitution A G 3_prime_UTR_variant MELA-AU 20 23352721 23352721 single base substitution A G downstream_gene_variant MELA-AU 20 23353157 23353157 single base substitution C T 3_prime_UTR_variant MELA-AU 20 23353157 23353157 single base substitution C T downstream_gene_variant MELA-AU 20 23353226 23353226 single base substitution C T 3_prime_UTR_variant MELA-AU 20 23353226 23353226 single base substitution C T downstream_gene_variant MELA-AU 20 23354621 23354621 single base substitution C T downstream_gene_variant MELA-AU 20 23354907 23354907 single base substitution C T downstream_gene_variant MELA-AU 20 23354952 23354952 single base substitution A G downstream_gene_variant MELA-AU 20 23355091 23355091 single base substitution T C downstream_gene_variant MELA-AU 20 23355363 23355363 single base substitution A C downstream_gene_variant MELA-AU 20 23355368 23355368 single base substitution A T downstream_gene_variant MELA-AU 20 23355370 23355370 single base substitution C T downstream_gene_variant MELA-AU 20 23356609 23356609 single base substitution G A downstream_gene_variant MELA-AU 20 23356696 23356697 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 20 23356841 23356841 single base substitution T C downstream_gene_variant MELA-AU 20 23357040 23357040 single base substitution C T downstream_gene_variant MELA-AU 20 23357083 23357083 single base substitution T A downstream_gene_variant MELA-AU 20 23357085 23357085 single base substitution C A downstream_gene_variant MELA-AU 20 23357381 23357381 single base substitution G A downstream_gene_variant MELA-AU 20 23357692 23357692 single base substitution G A downstream_gene_variant MELA-AU 20 23358601 23358601 single base substitution C T downstream_gene_variant MELA-AU 20 23358695 23358696 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant ORCA-IN 20 23346081 23346081 single base substitution G T downstream_gene_variant ORCA-IN 20 23346081 23346081 single base substitution G T exon_variant ORCA-IN 20 23346081 23346081 single base substitution G T intron_variant ORCA-IN 20 23346081 23346081 single base substitution G T missense_variant G354V 1061G>T ORCA-IN 20 23346081 23346081 single base substitution G T upstream_gene_variant OV-AU 20 23344573 23344573 single base substitution A G intron_variant OV-AU 20 23344573 23344573 single base substitution A G upstream_gene_variant OV-AU 20 23346117 23346117 single base substitution A G downstream_gene_variant OV-AU 20 23346117 23346117 single base substitution A G exon_variant OV-AU 20 23346117 23346117 single base substitution A G intron_variant OV-AU 20 23346117 23346117 single base substitution A G missense_variant H366R 1097A>G OV-AU 20 23346117 23346117 single base substitution A G upstream_gene_variant OV-AU 20 23347957 23347957 single base substitution T C downstream_gene_variant OV-AU 20 23347957 23347957 single base substitution T C intron_variant OV-AU 20 23347957 23347957 single base substitution T C upstream_gene_variant OV-AU 20 23350017 23350017 single base substitution C A downstream_gene_variant OV-AU 20 23350017 23350017 single base substitution C A intron_variant OV-AU 20 23351189 23351189 single base substitution G A 3_prime_UTR_variant OV-AU 20 23351189 23351189 single base substitution G A downstream_gene_variant OV-AU 20 23353075 23353075 single base substitution C T 3_prime_UTR_variant OV-AU 20 23353075 23353075 single base substitution C T downstream_gene_variant PACA-AU 20 23342091 23342091 single base substitution G A upstream_gene_variant PACA-AU 20 23342233 23342233 single base substitution G C upstream_gene_variant PACA-AU 20 23343495 23343495 single base substitution C T intron_variant PACA-AU 20 23343495 23343495 single base substitution C T upstream_gene_variant PACA-AU 20 23346097 23346097 single base substitution C T downstream_gene_variant PACA-AU 20 23346097 23346097 single base substitution C T exon_variant PACA-AU 20 23346097 23346097 single base substitution C T intron_variant PACA-AU 20 23346097 23346097 single base substitution C T synonymous_variant N359N 1077C>T PACA-AU 20 23346097 23346097 single base substitution C T upstream_gene_variant PACA-CA 20 23338576 23338576 single base substitution G A upstream_gene_variant PACA-CA 20 23339543 23339543 insertion of <=200bp - A upstream_gene_variant PACA-CA 20 23340835 23340835 single base substitution T G upstream_gene_variant PACA-CA 20 23341624 23341624 single base substitution G A upstream_gene_variant PACA-CA 20 23342319 23342319 single base substitution C T upstream_gene_variant PACA-CA 20 23342908 23342908 single base substitution C T intron_variant PACA-CA 20 23342908 23342908 single base substitution C T upstream_gene_variant PACA-CA 20 23348519 23348519 single base substitution C A downstream_gene_variant PACA-CA 20 23348519 23348519 single base substitution C A intron_variant PACA-CA 20 23348519 23348519 single base substitution C A upstream_gene_variant PACA-CA 20 23351716 23351716 single base substitution G T 3_prime_UTR_variant PACA-CA 20 23351716 23351716 single base substitution G T downstream_gene_variant PACA-CA 20 23353533 23353533 single base substitution C T 3_prime_UTR_variant PACA-CA 20 23353533 23353533 single base substitution C T downstream_gene_variant PACA-CA 20 23357883 23357883 single base substitution A G downstream_gene_variant PACA-CA 20 23358698 23358698 single base substitution T C downstream_gene_variant PBCA-DE 20 23351345 23351345 insertion of <=200bp - TT 3_prime_UTR_variant PBCA-DE 20 23351345 23351345 insertion of <=200bp - TT downstream_gene_variant PRAD-UK 20 23339107 23339107 single base substitution T A upstream_gene_variant PRAD-UK 20 23346732 23346732 single base substitution C T downstream_gene_variant PRAD-UK 20 23346732 23346732 single base substitution C T intron_variant PRAD-UK 20 23346732 23346732 single base substitution C T upstream_gene_variant PRAD-UK 20 23351678 23351678 single base substitution A G 3_prime_UTR_variant PRAD-UK 20 23351678 23351678 single base substitution A G downstream_gene_variant READ-US 20 23350796 23350796 single base substitution C T downstream_gene_variant READ-US 20 23350796 23350796 single base substitution C T exon_variant READ-US 20 23350796 23350796 single base substitution C T synonymous_variant D127D 381C>T READ-US 20 23350796 23350796 single base substitution C T synonymous_variant D142D 426C>T READ-US 20 23350796 23350796 single base substitution C T synonymous_variant D618D 1854C>T RECA-EU 20 23344921 23344921 single base substitution G T intron_variant RECA-EU 20 23344921 23344921 single base substitution G T upstream_gene_variant RECA-EU 20 23355749 23355749 single base substitution T G downstream_gene_variant SKCA-BR 20 23338762 23338762 single base substitution C T upstream_gene_variant SKCA-BR 20 23338836 23338836 single base substitution G A upstream_gene_variant SKCA-BR 20 23351560 23351560 single base substitution C A 3_prime_UTR_variant SKCA-BR 20 23351560 23351560 single base substitution C A downstream_gene_variant SKCA-BR 20 23352237 23352237 single base substitution T G 3_prime_UTR_variant SKCA-BR 20 23352237 23352237 single base substitution T G downstream_gene_variant SKCA-BR 20 23357529 23357529 single base substitution G A downstream_gene_variant SKCA-BR 20 23357986 23357986 single base substitution G A downstream_gene_variant SKCM-US 20 23345093 23345093 single base substitution C T intron_variant SKCM-US 20 23345093 23345093 single base substitution C T missense_variant R25C 73C>T SKCM-US 20 23345093 23345093 single base substitution C T upstream_gene_variant SKCM-US 20 23345626 23345626 single base substitution G A downstream_gene_variant SKCM-US 20 23345626 23345626 single base substitution G A intron_variant SKCM-US 20 23345626 23345626 single base substitution G A synonymous_variant K202K 606G>A SKCM-US 20 23345626 23345626 single base substitution G A upstream_gene_variant SKCM-US 20 23346017 23346017 single base substitution C T downstream_gene_variant SKCM-US 20 23346017 23346017 single base substitution C T exon_variant SKCM-US 20 23346017 23346017 single base substitution C T intron_variant SKCM-US 20 23346017 23346017 single base substitution C T synonymous_variant L333L 997C>T SKCM-US 20 23346017 23346017 single base substitution C T upstream_gene_variant SKCM-US 20 23349486 23349486 single base substitution C T downstream_gene_variant SKCM-US 20 23349486 23349486 single base substitution C T exon_variant SKCM-US 20 23349486 23349486 single base substitution C T missense_variant S25F 74C>T SKCM-US 20 23349486 23349486 single base substitution C T missense_variant S40F 119C>T SKCM-US 20 23349486 23349486 single base substitution C T missense_variant S516F 1547C>T SKCM-US 20 23349486 23349486 single base substitution C T upstream_gene_variant SKCM-US 20 23350250 23350250 single base substitution G A downstream_gene_variant SKCM-US 20 23350250 23350250 single base substitution G A intron_variant SKCM-US 20 23350250 23350250 single base substitution G A missense_variant G553S 1657G>A SKCM-US 20 23350250 23350250 single base substitution G A missense_variant G62S 184G>A SKCM-US 20 23350250 23350250 single base substitution G A missense_variant G77S 229G>A SKCM-US 20 23350920 23350920 single base substitution A T downstream_gene_variant SKCM-US 20 23350920 23350920 single base substitution A T exon_variant SKCM-US 20 23350920 23350920 single base substitution A T missense_variant M169L 505A>T SKCM-US 20 23350920 23350920 single base substitution A T missense_variant M184L 550A>T SKCM-US 20 23350920 23350920 single base substitution A T missense_variant M660L 1978A>T STAD-US 20 23345195 23345195 deletion of <=200bp T - downstream_gene_variant STAD-US 20 23345195 23345195 deletion of <=200bp T - frameshift_variant F59 STAD-US 20 23345195 23345195 deletion of <=200bp T - intron_variant STAD-US 20 23345195 23345195 deletion of <=200bp T - upstream_gene_variant STAD-US 20 23345592 23345592 single base substitution G A downstream_gene_variant STAD-US 20 23345592 23345592 single base substitution G A intron_variant STAD-US 20 23345592 23345592 single base substitution G A missense_variant G191D 572G>A STAD-US 20 23345592 23345592 single base substitution G A upstream_gene_variant STAD-US 20 23345800 23345800 single base substitution T C downstream_gene_variant STAD-US 20 23345800 23345800 single base substitution T C intron_variant STAD-US 20 23345800 23345800 single base substitution T C synonymous_variant C260C 780T>C STAD-US 20 23345800 23345800 single base substitution T C upstream_gene_variant STAD-US 20 23345920 23345920 single base substitution A G downstream_gene_variant STAD-US 20 23345920 23345920 single base substitution A G exon_variant STAD-US 20 23345920 23345920 single base substitution A G intron_variant STAD-US 20 23345920 23345920 single base substitution A G synonymous_variant E300E 900A>G STAD-US 20 23345920 23345920 single base substitution A G upstream_gene_variant STAD-US 20 23346139 23346139 single base substitution C T downstream_gene_variant STAD-US 20 23346139 23346139 single base substitution C T exon_variant STAD-US 20 23346139 23346139 single base substitution C T intron_variant STAD-US 20 23346139 23346139 single base substitution C T synonymous_variant S373S 1119C>T STAD-US 20 23346139 23346139 single base substitution C T upstream_gene_variant STAD-US 20 23346149 23346149 single base substitution T C downstream_gene_variant STAD-US 20 23346149 23346149 single base substitution T C exon_variant STAD-US 20 23346149 23346149 single base substitution T C intron_variant STAD-US 20 23346149 23346149 single base substitution T C missense_variant F377L 1129T>C STAD-US 20 23346149 23346149 single base substitution T C upstream_gene_variant STAD-US 20 23346169 23346171 deletion of <=200bp GAA - downstream_gene_variant STAD-US 20 23346169 23346171 deletion of <=200bp GAA - exon_variant STAD-US 20 23346169 23346171 deletion of <=200bp GAA - inframe_deletion GK383G STAD-US 20 23346169 23346171 deletion of <=200bp GAA - intron_variant STAD-US 20 23346169 23346171 deletion of <=200bp GAA - upstream_gene_variant STAD-US 20 23346229 23346229 single base substitution C T downstream_gene_variant STAD-US 20 23346229 23346229 single base substitution C T exon_variant STAD-US 20 23346229 23346229 single base substitution C T intron_variant STAD-US 20 23346229 23346229 single base substitution C T synonymous_variant G403G 1209C>T STAD-US 20 23346229 23346229 single base substitution C T upstream_gene_variant STAD-US 20 23346237 23346237 single base substitution G A downstream_gene_variant STAD-US 20 23346237 23346237 single base substitution G A exon_variant STAD-US 20 23346237 23346237 single base substitution G A intron_variant STAD-US 20 23346237 23346237 single base substitution G A missense_variant R406Q 1217G>A STAD-US 20 23346237 23346237 single base substitution G A upstream_gene_variant STAD-US 20 23346300 23346300 single base substitution G A downstream_gene_variant STAD-US 20 23346300 23346300 single base substitution G A exon_variant STAD-US 20 23346300 23346300 single base substitution G A intron_variant STAD-US 20 23346300 23346300 single base substitution G A missense_variant R427H 1280G>A STAD-US 20 23346300 23346300 single base substitution G A upstream_gene_variant STAD-US 20 23346303 23346303 single base substitution C T downstream_gene_variant STAD-US 20 23346303 23346303 single base substitution C T exon_variant STAD-US 20 23346303 23346303 single base substitution C T intron_variant STAD-US 20 23346303 23346303 single base substitution C T missense_variant T428I 1283C>T STAD-US 20 23346303 23346303 single base substitution C T upstream_gene_variant STAD-US 20 23346375 23346375 single base substitution C T downstream_gene_variant STAD-US 20 23346375 23346375 single base substitution C T exon_variant STAD-US 20 23346375 23346375 single base substitution C T intron_variant STAD-US 20 23346375 23346375 single base substitution C T missense_variant T452M 1355C>T STAD-US 20 23346375 23346375 single base substitution C T upstream_gene_variant STAD-US 20 23350249 23350249 single base substitution C T downstream_gene_variant STAD-US 20 23350249 23350249 single base substitution C T intron_variant STAD-US 20 23350249 23350249 single base substitution C T synonymous_variant C552C 1656C>T STAD-US 20 23350249 23350249 single base substitution C T synonymous_variant C61C 183C>T STAD-US 20 23350249 23350249 single base substitution C T synonymous_variant C76C 228C>T STAD-US 20 23350271 23350271 single base substitution A G downstream_gene_variant STAD-US 20 23350271 23350271 single base substitution A G intron_variant STAD-US 20 23350271 23350271 single base substitution A G missense_variant N560D 1678A>G STAD-US 20 23350271 23350271 single base substitution A G missense_variant N69D 205A>G STAD-US 20 23350271 23350271 single base substitution A G missense_variant N84D 250A>G STAD-US 20 23350276 23350276 single base substitution C A downstream_gene_variant STAD-US 20 23350276 23350276 single base substitution C A intron_variant STAD-US 20 23350276 23350276 single base substitution C A synonymous_variant A561A 1683C>A STAD-US 20 23350276 23350276 single base substitution C A synonymous_variant A70A 210C>A STAD-US 20 23350276 23350276 single base substitution C A synonymous_variant A85A 255C>A STAD-US 20 23350284 23350284 single base substitution G A downstream_gene_variant STAD-US 20 23350284 23350284 single base substitution G A intron_variant STAD-US 20 23350284 23350284 single base substitution G A missense_variant R564H 1691G>A STAD-US 20 23350284 23350284 single base substitution G A missense_variant R73H 218G>A STAD-US 20 23350284 23350284 single base substitution G A missense_variant R88H 263G>A STAD-US 20 23350290 23350290 single base substitution G A downstream_gene_variant STAD-US 20 23350290 23350290 single base substitution G A intron_variant STAD-US 20 23350290 23350290 single base substitution G A missense_variant R566H 1697G>A STAD-US 20 23350290 23350290 single base substitution G A missense_variant R75H 224G>A STAD-US 20 23350290 23350290 single base substitution G A missense_variant R90H 269G>A STAD-US 20 23350333 23350333 single base substitution C T downstream_gene_variant STAD-US 20 23350333 23350333 single base substitution C T intron_variant STAD-US 20 23350333 23350333 single base substitution C T synonymous_variant C104C 312C>T STAD-US 20 23350333 23350333 single base substitution C T synonymous_variant C580C 1740C>T STAD-US 20 23350333 23350333 single base substitution C T synonymous_variant C89C 267C>T STAD-US 20 23350829 23350829 single base substitution T C downstream_gene_variant STAD-US 20 23350829 23350829 single base substitution T C exon_variant STAD-US 20 23350829 23350829 single base substitution T C synonymous_variant Y138Y 414T>C STAD-US 20 23350829 23350829 single base substitution T C synonymous_variant Y153Y 459T>C STAD-US 20 23350829 23350829 single base substitution T C synonymous_variant Y629Y 1887T>C THCA-SA 20 23355304 23355304 single base substitution C G downstream_gene_variant THCA-US 20 23349552 23349552 single base substitution T C downstream_gene_variant THCA-US 20 23349552 23349552 single base substitution T C exon_variant THCA-US 20 23349552 23349552 single base substitution T C missense_variant I47T 140T>C THCA-US 20 23349552 23349552 single base substitution T C missense_variant I538T 1613T>C THCA-US 20 23349552 23349552 single base substitution T C missense_variant I62T 185T>C UCEC-US 20 23345449 23345449 single base substitution C A downstream_gene_variant UCEC-US 20 23345449 23345449 single base substitution C A intron_variant UCEC-US 20 23345449 23345449 single base substitution C A missense_variant F143L 429C>A UCEC-US 20 23345449 23345449 single base substitution C A upstream_gene_variant UCEC-US 20 23345911 23345919 deletion of <=200bp GGAGGAGGA - disruptive_inframe_deletion PEEE297P UCEC-US 20 23345911 23345919 deletion of <=200bp GGAGGAGGA - downstream_gene_variant UCEC-US 20 23345911 23345919 deletion of <=200bp GGAGGAGGA - exon_variant UCEC-US 20 23345911 23345919 deletion of <=200bp GGAGGAGGA - intron_variant UCEC-US 20 23345911 23345919 deletion of <=200bp GGAGGAGGA - upstream_gene_variant UCEC-US 20 23345920 23345920 insertion of <=200bp - GAG disruptive_inframe_insertion E300ER UCEC-US 20 23345920 23345920 insertion of <=200bp - GAG downstream_gene_variant UCEC-US 20 23345920 23345920 insertion of <=200bp - GAG exon_variant UCEC-US 20 23345920 23345920 insertion of <=200bp - GAG intron_variant UCEC-US 20 23345920 23345920 insertion of <=200bp - GAG upstream_gene_variant UCEC-US 20 23345952 23345954 deletion of <=200bp AGA - downstream_gene_variant UCEC-US 20 23345952 23345954 deletion of <=200bp AGA - exon_variant UCEC-US 20 23345952 23345954 deletion of <=200bp AGA - inframe_deletion EK311E UCEC-US 20 23345952 23345954 deletion of <=200bp AGA - intron_variant UCEC-US 20 23345952 23345954 deletion of <=200bp AGA - upstream_gene_variant UCEC-US 20 23346056 23346056 single base substitution G A downstream_gene_variant UCEC-US 20 23346056 23346056 single base substitution G A exon_variant UCEC-US 20 23346056 23346056 single base substitution G A intron_variant UCEC-US 20 23346056 23346056 single base substitution G A missense_variant V346M 1036G>A UCEC-US 20 23346056 23346056 single base substitution G A upstream_gene_variant UCEC-US 20 23346166 23346166 single base substitution C T downstream_gene_variant UCEC-US 20 23346166 23346166 single base substitution C T exon_variant UCEC-US 20 23346166 23346166 single base substitution C T intron_variant UCEC-US 20 23346166 23346166 single base substitution C T synonymous_variant C382C 1146C>T UCEC-US 20 23346166 23346166 single base substitution C T upstream_gene_variant UCEC-US 20 23350249 23350249 single base substitution C T downstream_gene_variant UCEC-US 20 23350249 23350249 single base substitution C T intron_variant UCEC-US 20 23350249 23350249 single base substitution C T synonymous_variant C552C 1656C>T UCEC-US 20 23350249 23350249 single base substitution C T synonymous_variant C61C 183C>T UCEC-US 20 23350249 23350249 single base substitution C T synonymous_variant C76C 228C>T UCEC-US 20 23350333 23350333 single base substitution C T downstream_gene_variant UCEC-US 20 23350333 23350333 single base substitution C T intron_variant UCEC-US 20 23350333 23350333 single base substitution C T synonymous_variant C104C 312C>T UCEC-US 20 23350333 23350333 single base substitution C T synonymous_variant C580C 1740C>T UCEC-US 20 23350333 23350333 single base substitution C T synonymous_variant C89C 267C>T UCEC-US 20 23350768 23350768 single base substitution T A downstream_gene_variant UCEC-US 20 23350768 23350768 single base substitution T A exon_variant UCEC-US 20 23350768 23350768 single base substitution T A missense_variant I118N 353T>A UCEC-US 20 23350768 23350768 single base substitution T A missense_variant I133N 398T>A UCEC-US 20 23350768 23350768 single base substitution T A missense_variant I609N 1826T>A UCEC-US 20 23350861 23350861 single base substitution C A downstream_gene_variant UCEC-US 20 23350861 23350861 single base substitution C A exon_variant UCEC-US 20 23350861 23350861 single base substitution C A missense_variant S149Y 446C>A UCEC-US 20 23350861 23350861 single base substitution C A missense_variant S164Y 491C>A UCEC-US 20 23350861 23350861 single base substitution C A missense_variant S640Y 1919C>A UCEC-US 20 23351031 23351031 single base substitution A G downstream_gene_variant UCEC-US 20 23351031 23351031 single base substitution A G exon_variant UCEC-US 20 23351031 23351031 single base substitution A G missense_variant T206A 616A>G UCEC-US 20 23351031 23351031 single base substitution A G missense_variant T221A 661A>G UCEC-US 20 23351031 23351031 single base substitution A G missense_variant T697A 2089A>G UCEC-US 20 23358077 23358077 single base substitution G A downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-D1-A15W-01 COSM1025198 c.109G>T p.V37L Substitution - Missense 20:23364492-23364492 + HCT8 COSM4634504 c.1814C>G p.S605C Substitution - Missense 20:23370119-23370119 + 587364 COSM1209239 c.508G>A p.D170N Substitution - Missense 20:23364891-23364891 + BZ15 COSM1724766 c.901_903delGAG p.E306delE Deletion - In frame 20:23365284-23365286 + TCGA-BR-8487-01 COSM4097146 c.1355C>T p.T452M Substitution - Missense 20:23365738-23365738 + PDA_085 COSM5002774 c.1972C>A p.P658T Substitution - Missense 20:23370277-23370277 + TCGA-29-1703-01 COSM1326847 c.1634G>A p.R545H Substitution - Missense 20:23369590-23369590 + T3090 COSM2706170 c.1839G>A p.S613S Substitution - coding silent 20:23370144-23370144 + TCGA-AN-A046-01 COSM3840585 c.1532G>T p.R511I Substitution - Missense 20:23368834-23368834 + TCGA-CA-6718-01 COSM5145032 c.1786-6T>G p.? Unknown 20:23370085-23370085 + TCGA-HU-A4GQ-01 COSM1641304 c.1697G>A p.R566H Substitution - Missense 20:23369653-23369653 + YUZINO COSM1713284 c.35C>T p.S12F Substitution - Missense 20:23364418-23364418 + TCGA-FS-A1YY-06 COSM3544729 c.1657G>A p.G553S Substitution - Missense 20:23369613-23369613 + TCGA-AA-A010-01 COSM281606 c.1051G>A p.D351N Substitution - Missense 20:23365434-23365434 + T1743 COSM4689396 c.1238G>A p.G413D Substitution - Missense 20:23365621-23365621 + HX28T COSM1615403 c.782C>T p.P261L Substitution - Missense 20:23365165-23365165 + TCGA-A6-6781-01 COSM5093374 c.1185delC p.H395fs*22 Deletion - Frameshift 20:23365568-23365568 + TCGA-AC-A23H-01 COSM3840587 c.1882G>C p.E628Q Substitution - Missense 20:23370187-23370187 + TCGA-B7-5818-01 COSM4097150 c.1887T>C p.Y629Y Substitution - coding silent 20:23370192-23370192 + TCGA-BR-7703-01 COSM4097141 c.900A>G p.E300E Substitution - coding silent 20:23365283-23365283 + OSCC-GB_00600111 COSM4890216 c.1061G>T p.G354V Substitution - Missense 20:23365444-23365444 + TCGA-BR-4184-01 COSM271848 c.1280G>A p.R427H Substitution - Missense 20:23365663-23365663 + TCGA-GF-A6C9-06 COSM4899994 c.997C>T p.L333L Substitution - coding silent 20:23365380-23365380 + HCC38T COSM1615402 c.103G>A p.V35I Substitution - Missense 20:23364486-23364486 + TCGA-CG-5733-01 COSM4097145 c.1283C>T p.T428I Substitution - Missense 20:23365666-23365666 + BCM723T COSM5348553 c.932_933insA p.K312fs*7 Insertion - Frameshift 20:23365315-23365316 + AOCS-134-3-9 COSM4136780 c.1097A>G p.H366R Substitution - Missense 20:23365480-23365480 + YUQUEST COSM5391691 c.110delT p.V37fs*43 Deletion - Frameshift 20:23364493-23364493 + T3202 COSM4689389 c.110T>C p.V37A Substitution - Missense 20:23364493-23364493 + T55 COSM4689394 c.1180C>T p.R394W Substitution - Missense 20:23365563-23365563 + Pat_14_B COSM1724766 c.901_903delGAG p.E306delE Deletion - In frame 20:23365284-23365286 + TCGA-D3-A5GO-06 COSM3544726 c.73C>T p.R25C Substitution - Missense 20:23364456-23364456 + LUAD-S01315 COSM345119 c.1480G>C p.E494Q Substitution - Missense 20:23368782-23368782 + TCGA-AA-3852-01 COSM271848 c.1280G>A p.R427H Substitution - Missense 20:23365663-23365663 + TCGA-D8-A1XK-01 COSM3840586 c.1640A>G p.Y547C Substitution - Missense 20:23369596-23369596 + TCGA-BR-6452-01 COSM4097144 c.1209C>T p.G403G Substitution - coding silent 20:23365592-23365592 + B61 COSM1751351 c.58G>A p.E20K Substitution - Missense 20:23364441-23364441 + 90624 COSM329389 c.2033C>T p.S678F Substitution - Missense 20:23370338-23370338 + TCGA-A5-A0GW-01 COSM1025206 c.1740C>T p.C580C Substitution - coding silent 20:23369696-23369696 + TCGA-AA-3966-01 COSM272760 c.720T>C p.Y240Y Substitution - coding silent 20:23365103-23365103 + HCT-116 COSM1681566 c.1655G>A p.C552Y Substitution - Missense 20:23369611-23369611 + ESCC_62 COSM1025205 c.1656C>T p.C552C Substitution - coding silent 20:23369612-23369612 + 46M COSM5587954 c.684G>A p.G228G Substitution - coding silent 20:23365067-23365067 + B61-Tumor COSM1751352 c.754G>A p.E252K Substitution - Missense 20:23365137-23365137 + TCGA-CA-6717-01 COSM1410785 c.313C>T p.R105W Substitution - Missense 20:23364696-23364696 + TCGA-B0-5097-01 COSM477908 c.1428C>T p.H476H Substitution - coding silent 20:23367066-23367066 + HCT8 COSM2706165 c.1700G>A p.R567H Substitution - Missense 20:23369656-23369656 + HCC93T COSM3707651 c.386A>G p.K129R Substitution - Missense 20:23364769-23364769 + 5_RESISTANT COSM1724766 c.901_903delGAG p.E306delE Deletion - In frame 20:23365284-23365286 + TCGA-EE-A2MN-06 COSM3544727 c.606G>A p.K202K Substitution - coding silent 20:23364989-23364989 + TCGA-NH-A5IV-01 COSM5183513 c.812C>T p.T271M Substitution - Missense 20:23365195-23365195 + TCGA-D5-6930-01 COSM5166467 c.1772G>A p.R591Q Substitution - Missense 20:23369728-23369728 + TCGA-EI-6882-01 COSM3423548 c.1854C>T p.D618D Substitution - coding silent 20:23370159-23370159 + TCGA-C8-A27B-01 COSM3840588 c.1919C>T p.S640F Substitution - Missense 20:23370224-23370224 + HCC93 COSM3707651 c.386A>G p.K129R Substitution - Missense 20:23364769-23364769 + TCGA-BR-4280-01 COSM4097140 c.780T>C p.C260C Substitution - coding silent 20:23365163-23365163 + TCGA-AM-5820-01 COSM3758488 c.824A>C p.Q275P Substitution - Missense 20:23365207-23365207 + T2944 COSM4689395 c.1222C>A p.R408S Substitution - Missense 20:23365605-23365605 + TCGA-D5-6540-01 COSM1410789 c.1681G>A p.A561T Substitution - Missense 20:23369637-23369637 + pfg008T COSM1641303 c.163G>A p.A55T Substitution - Missense 20:23364546-23364546 + Pat_04_A COSM5857505 c.1106A>G p.H369R Substitution - Missense 20:23365489-23365489 + CRC-1 COSM304707 c.1694A>C p.H565P Substitution - Missense 20:23369650-23369650 + I2L-P19Ta-Tumor-Organoid COSM5365927 c.1925C>T p.A642V Substitution - Missense 20:23370230-23370230 + TCGA-A6-5665-01 COSM1025202 c.932_934delAGA p.K314delK Deletion - In frame 20:23365315-23365317 + TCGA-BS-A0U9-01 COSM1025203 c.1036G>A p.V346M Substitution - Missense 20:23365419-23365419 + TCGA-A6-5659-01 COSM1724766 c.901_903delGAG p.E306delE Deletion - In frame 20:23365284-23365286 + TCGA-A2-A25D-01 COSM1483496 c.730C>A p.L244I Substitution - Missense 20:23365113-23365113 + HCC38 COSM1615402 c.103G>A p.V35I Substitution - Missense 20:23364486-23364486 + TCGA-BR-4184-01 COSM4097139 c.572G>A p.G191D Substitution - Missense 20:23364955-23364955 + ESO-859 COSM1239042 c.260T>C p.F87S Substitution - Missense 20:23364643-23364643 + RK254_C01 COSM4945634 c.297A>G p.V99V Substitution - coding silent 20:23364680-23364680 + SNUH_G76_S1 COSM4416867 c.930G>A p.G310G Substitution - coding silent 20:23365313-23365313 + Pat_24_A COSM5857506 c.1696C>T p.R566C Substitution - Missense 20:23369652-23369652 + TCGA-D3-A2JK-06 COSM3544728 c.1547C>T p.S516F Substitution - Missense 20:23368849-23368849 + Gp5D COSM2706130 c.207T>A p.S69R Substitution - Missense 20:23364590-23364590 + HCT15 COSM4624216 c.1324G>A p.A442T Substitution - Missense 20:23365707-23365707 + TCGA-CA-6717-01 COSM1410786 c.638A>C p.K213T Substitution - Missense 20:23365021-23365021 + J87_T COSM3963397 c.659G>T p.R220M Substitution - Missense 20:23365042-23365042 + CSCC-31-T COSM4476635 c.2082C>T p.T694T Substitution - coding silent 20:23370387-23370387 + TCGA-D5-6927-01 COSM5164922 c.175delT p.F60fs*20 Deletion - Frameshift 20:23364558-23364558 + HDC82 COSM2706149 c.1103G>A p.R368H Substitution - Missense 20:23365486-23365486 + H650 COSM1194622 c.508G>C p.D170H Substitution - Missense 20:23364891-23364891 + 53M COSM5594659 c.1033G>A p.E345K Substitution - Missense 20:23365416-23365416 + TCGA-D1-A17Q-01 COSM1025204 c.1146C>T p.C382C Substitution - coding silent 20:23365529-23365529 + CSCC-29-T COSM4531292 c.1775G>T p.R592L Substitution - Missense 20:23369731-23369731 + TCGA-22-5473-01 COSM723356 c.365C>G p.S122* Substitution - Nonsense 20:23364748-23364748 + PD2144a COSM51908 c.290C>T p.A97V Substitution - Missense 20:23364673-23364673 + S00838 COSM5661579 c.1541C>G p.T514S Substitution - Missense 20:23368843-23368843 + BCM723T COSM4956120 c.926A>T p.E309V Substitution - Missense 20:23365309-23365309 + MOLT-4 COSM1681565 c.1061G>A p.G354D Substitution - Missense 20:23365444-23365444 + T2944 COSM4689397 c.1305C>T p.Y435Y Substitution - coding silent 20:23365688-23365688 + T3080 COSM4689390 c.492G>T p.R164S Substitution - Missense 20:23364875-23364875 + TCGA-A3-3374-01 COSM1495048 c.597G>T p.K199N Substitution - Missense 20:23364980-23364980 + TCGA-D7-A4YV-01 COSM1025205 c.1656C>T p.C552C Substitution - coding silent 20:23369612-23369612 + T3262 COSM4689393 c.1147G>A p.G383R Substitution - Missense 20:23365530-23365530 + TCGA-B0-4811-01 COSM477907 c.583G>T p.D195Y Substitution - Missense 20:23364966-23364966 + Gp2D COSM1239043 c.1186G>A p.V396M Substitution - Missense 20:23365569-23365569 + TCGA-HT-7858-01 COSM3972471 c.725G>C p.R242T Substitution - Missense 20:23365108-23365108 + TCGA-BR-8487-01 COSM4097149 c.1691G>A p.R564H Substitution - Missense 20:23369647-23369647 + PR-00-1165 COSM244857 c.1876G>A p.D626N Substitution - Missense 20:23370181-23370181 + S01861 COSM5671261 c.2026G>A p.V676M Substitution - Missense 20:23370331-23370331 + TCGA-AD-6890-01 COSM1410787 c.722C>T p.T241M Substitution - Missense 20:23365105-23365105 + CHEWS009 COSM4581677 c.165C>A p.A55A Substitution - coding silent 20:23364548-23364548 + BCM325T COSM4799014 c.413T>C p.L138S Substitution - Missense 20:23364796-23364796 + GC_370T-GC_370N COSM4773294 c.593C>A p.P198Q Substitution - Missense 20:23364976-23364976 + 587342 COSM1209238 c.794G>A p.S265N Substitution - Missense 20:23365177-23365177 + BCM723T COSM4956120 c.926A>T p.E309V Substitution - Missense 20:23365309-23365309 + TCGA-AZ-6598-01 COSM1410788 c.1378_1379insA p.P462fs*5 Insertion - Frameshift 20:23367016-23367017 + TCGA-CG-5726-01 COSM2706153 c.1217G>A p.R406Q Substitution - Missense 20:23365600-23365600 + PT46 COSM5930015 c.1292G>A p.G431E Substitution - Missense 20:23365675-23365675 + 2159279 COSM4167512 c.795C>G p.S265R Substitution - Missense 20:23365178-23365178 + TCGA-HU-8602-01 COSM4097142 c.1119C>T p.S373S Substitution - coding silent 20:23365502-23365502 + LS411 COSM2706174 c.2036A>G p.Q679R Substitution - Missense 20:23370341-23370341 + TCGA-D9-A4Z3-01 COSM3544730 c.1978A>T p.M660L Substitution - Missense 20:23370283-23370283 + TCGA-ED-A7PZ-01 COSM4917035 c.1904C>T p.S635L Substitution - Missense 20:23370209-23370209 + TCGA-A6-6652-01 COSM1410791 c.1756G>A p.D586N Substitution - Missense 20:23369712-23369712 + ESCC_BICR_040T COSM723356 c.365C>G p.S122* Substitution - Nonsense 20:23364748-23364748 + HCC24T COSM1615403 c.782C>T p.P261L Substitution - Missense 20:23365165-23365165 + TCGA-D5-6539-01 COSM1410790 c.1684C>A p.L562I Substitution - Missense 20:23369640-23369640 + 418 COSM4431841 c.664G>C p.A222P Substitution - Missense 20:23365047-23365047 + TCGA-CA-6718-01 COSM1410784 c.138C>A p.F46L Substitution - Missense 20:23364521-23364521 + TCGA-CZ-5470-01 COSM477909 c.1916T>G p.L639R Substitution - Missense 20:23370221-23370221 + HCC24 COSM1615403 c.782C>T p.P261L Substitution - Missense 20:23365165-23365165 + T578 COSM4689398 c.1878C>T p.D626D Substitution - coding silent 20:23370183-23370183 + ZZUFHECRKL-G068T COSM4417330 c.49C>T p.L17L Substitution - coding silent 20:23364432-23364432 + 8066503 COSM4389779 c.1077C>T p.N359N Substitution - coding silent 20:23365460-23365460 + TCGA-DU-6396-01 COSM3972472 c.2044C>T p.L682F Substitution - Missense 20:23370349-23370349 + ESCC_129 COSM5641895 c.2046C>T p.L682L Substitution - coding silent 20:23370351-23370351 + I2L-P7-Tumor-Organoid COSM1410789 c.1681G>A p.A561T Substitution - Missense 20:23369637-23369637 + HCC93 COSM3707650 c.380A>C p.Q127P Substitution - Missense 20:23364763-23364763 + TCGA-BT-A20J-01 COSM419026 c.1879G>A p.E627K Substitution - Missense 20:23370184-23370184 + TCGA-DJ-A3VE-01 COSM3371628 c.1613T>C p.I538T Substitution - Missense 20:23368915-23368915 + BD135T COSM2706165 c.1700G>A p.R567H Substitution - Missense 20:23369656-23369656 + SJDES028 COSM1724766 c.901_903delGAG p.E306delE Deletion - In frame 20:23365284-23365286 + TCGA-HU-A4GT-01 COSM4097148 c.1683C>A p.A561A Substitution - coding silent 20:23369639-23369639 + HCT8 COSM4624216 c.1324G>A p.A442T Substitution - Missense 20:23365707-23365707 + TCGA-22-5478-01 COSM723355 c.1120G>A p.E374K Substitution - Missense 20:23365503-23365503 + S02385 COSM5698865 c.1276G>T p.E426* Substitution - Nonsense 20:23365659-23365659 + MO_1262 COSM5566067 c.128G>A p.R43H Substitution - Missense 20:23364511-23364511 + BD236T COSM5519741 c.533C>T p.T178M Substitution - Missense 20:23364916-23364916 + 145 COSM3735208 c.1592G>A p.R531Q Substitution - Missense 20:23368894-23368894 + LUAD-CHTN-Z4716A COSM362120 c.54G>T p.L18L Substitution - coding silent 20:23364437-23364437 + RK081_C01 COSM3740059 c.1912T>C p.L638L Substitution - coding silent 20:23370217-23370217 + 19M COSM5578683 c.948C>T p.N316N Substitution - coding silent 20:23365331-23365331 + TCGA-B5-A11G-01 COSM1025201 c.900_901insGAG p.E306_D307insE Insertion - In frame 20:23365283-23365284 + TCGA-AX-A05Z-01 COSM1025208 c.1919C>A p.S640Y Substitution - Missense 20:23370224-23370224 + TCGA-HU-8602-01 COSM1025206 c.1740C>T p.C580C Substitution - coding silent 20:23369696-23369696 + ESO-887 COSM1253934 c.817A>T p.M273L Substitution - Missense 20:23365200-23365200 + SNUH_G76_S1 COSM4417330 c.49C>T p.L17L Substitution - coding silent 20:23364432-23364432 + B61 COSM1751352 c.754G>A p.E252K Substitution - Missense 20:23365137-23365137 + pfg008T COSM1641303 c.163G>A p.A55T Substitution - Missense 20:23364546-23364546 + T2940 COSM1724766 c.901_903delGAG p.E306delE Deletion - In frame 20:23365284-23365286 + Pat_14_A COSM1724766 c.901_903delGAG p.E306delE Deletion - In frame 20:23365284-23365286 + TCGA-EP-A2KA-01 COSM4917264 c.315G>T p.R105R Substitution - coding silent 20:23364698-23364698 + TCGA-B5-A0K9-01 COSM1025207 c.1826T>A p.I609N Substitution - Missense 20:23370131-23370131 + TCGA-AX-A0J0-01 COSM1025199 c.429C>A p.F143L Substitution - Missense 20:23364812-23364812 + B61-Tumor COSM1751351 c.58G>A p.E20K Substitution - Missense 20:23364441-23364441 + TCGA-HU-A4GX-01 COSM4097143 c.1129T>C p.F377L Substitution - Missense 20:23365512-23365512 + T3094 COSM4689392 c.783C>A p.P261P Substitution - coding silent 20:23365166-23365166 + BCM325T COSM4799014 c.413T>C p.L138S Substitution - Missense 20:23364796-23364796 + 5_PRE-TREATMENT COSM1724766 c.901_903delGAG p.E306delE Deletion - In frame 20:23365284-23365286 + TCGA-BR-8081-01 COSM4097147 c.1678A>G p.N560D Substitution - Missense 20:23369634-23369634 + sysucc-809T COSM5468216 c.1297C>T p.R433W Substitution - Missense 20:23365680-23365680 + ESO-859 COSM1239043 c.1186G>A p.V396M Substitution - Missense 20:23365569-23365569 + PD18776a COSM5796683 c.1350C>G p.L450L Substitution - coding silent 20:23365733-23365733 + 19 COSM5748154 c.772T>C p.Y258H Substitution - Missense 20:23365155-23365155 + TCGA-AP-A051-01 COSM1025205 c.1656C>T p.C552C Substitution - coding silent 20:23369612-23369612 + SNU-C2B COSM2706167 c.1774C>T p.R592W Substitution - Missense 20:23369730-23369730 + HCC93T COSM3707650 c.380A>C p.Q127P Substitution - Missense 20:23364763-23364763 + TCGA-B5-A11J-01 COSM1025202 c.932_934delAGA p.K314delK Deletion - In frame 20:23365315-23365317 + DLD1 COSM4624216 c.1324G>A p.A442T Substitution - Missense 20:23365707-23365707 + pfg181T COSM4751213 c.1244G>A p.G415D Substitution - Missense 20:23365627-23365627 + Pat_02_B COSM1724766 c.901_903delGAG p.E306delE Deletion - In frame 20:23365284-23365286 + TCGA-BL-A0C8-01 COSM419025 c.2079G>C p.L693L Substitution - coding silent 20:23370384-23370384 + TCGA-AA-3715-01 COSM269292 c.592C>T p.P198S Substitution - Missense 20:23364975-23364975 + T2269 COSM2706167 c.1774C>T p.R592W Substitution - Missense 20:23369730-23369730 + TCGA-22-4604-01 COSM723354 c.1466G>C p.R489T Substitution - Missense 20:23368768-23368768 + LUAD-B00915 COSM332839 c.751G>T p.A251S Substitution - Missense 20:23365134-23365134 + TCGA-AX-A0J0-01 COSM1025209 c.2089A>G p.T697A Substitution - Missense 20:23370394-23370394 + TCGA-WS-AB45-01 COSM4689397 c.1305C>T p.Y435Y Substitution - coding silent 20:23365688-23365688 + PD24215a COSM5787389 c.1970T>A p.V657E Substitution - Missense 20:23370275-23370275 + TCGA-B5-A0JZ-01 COSM1025200 c.891_899delGGAGGAGGA p.E304_E306delEEE Deletion - In frame 20:23365274-23365282 + pfg016T COSM1641304 c.1697G>A p.R566H Substitution - Missense 20:23369653-23369653 + T3064 COSM3735208 c.1592G>A p.R531Q Substitution - Missense 20:23368894-23368894 + T3064 COSM4689391 c.765delG p.D257fs*77 Deletion - Frameshift 20:23365148-23365148 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.709462 20p11.21 613842

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer AGA - InFrameDeletion p.K314delK c.941_943delAGA 20 23345952 UCEC A T Missense p.M273L c.817A>T 20 23345837 ESCA C A Missense p.L244I c.730C>A 20 23345750 BRCA C G Nonsense p.S122* c.365C>G 20 23345385 LUSC C T Missense p.A449V c.1346C>T 20 23346366 STAD C T Missense p.L682F c.2044C>T 20 23350986 LGG C T Missense p.S516F c.1547C>T 20 23349486 CM C T Missense p.T428I c.1283C>T 20 23346303 STAD C T Synonymous p.C580C c.1740C>T 20 23350333 UCEC C T Synonymous p.H29H c.87C>T 20 23345107 LUAD C T Synonymous p.H476H c.1428C>T 20 23347703 RCCC - GAG InFrameInsertion p.E300_E301insG c.901_902insGAG 20 23345921 UCEC G A Missense p.A113T c.337G>A 20 23345357 COREAD G A Missense p.A55T c.163G>A 20 23345183 STAD G A Missense p.D32N c.94G>A 20 23345114 LUAD G A Missense p.D611N c.1831G>A 20 23350773 HNSC G A Missense p.E374K c.1120G>A 20 23346140 LUSC G A Missense p.E627K c.1879G>A 20 23350821 BLCA G A Missense p.G553S c.1657G>A 20 23350250 CM G A Missense p.R406Q c.1217G>A 20 23346237 STAD G A Missense p.R427H c.1280G>A 20 23346300 COREAD G A Missense p.R566H c.1697G>A 20 23350290 STAD G A Missense p.V346M c.1036G>A 20 23346056 UCEC G A Missense p.V396M c.1186G>A 20 23346206 ESCA G A SpliceDonorSNV . c.1459+1G>A 20 23347735 BRCA G A Synonymous p.K202K c.606G>A 20 23345626 CM G A Synonymous p.K98K c.294G>A 20 23345314 CM G C Missense p.D636H c.1906G>C 20 23350848 LUAD G C Missense p.R489T c.1466G>C 20 23349405 LUSC G C Synonymous p.L693L c.2079G>C 20 23351021 BLCA G - Frameshift p.G410Afs*7 c.1229delG 20 23346248 HNSC GGAGGAGGA - InFrameDeletion p.E304_E306delEEE c.891_899delGGAGGAGGA 20 23345911 UCEC G T Missense p.D195Y c.583G>T 20 23345603 RCCC G T Missense p.G383W c.1147G>T 20 23346167 CM G T Missense p.V151L c.451G>T 20 23345471 HNSC T A Missense p.I609N c.1826T>A 20 23350768 UCEC T C 3-UTRSNV . c.2133+1881T>C 20 23352956 HC T C Missense p.F87S c.260T>C 20 23345280 ESCA T C Synonymous p.C260C c.780T>C 20 23345800 STAD T C Synonymous p.Y629Y c.1887T>C 20 23350829 STAD T G 3-UTRSNV . c.2133+507T>G 20 23351582 HC T G Missense p.C437G c.1309T>G 20 23346329 CM T G Missense p.L639R c.1916T>G 20 23350858 RCCC