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 11903562 11903562 + Missense_Mutation SNP C C A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr20:11903562C>A c.817C>A c.(817-819)Ctc>Atc p.L273I BLCA 20 11903653 11903653 + Missense_Mutation SNP C C T TCGA-XF-A9T5-01A-11D-A42E-08 TCGA-XF-A9T5-10A-01D-A42H-08 g.chr20:11903653C>T c.908C>T c.(907-909)gCg>gTg p.A303V BLCA 20 11904179 11904179 + Silent SNP C C G TCGA-XF-AAMG-01A-11D-A42E-08 TCGA-XF-AAMG-10A-01D-A42H-08 g.chr20:11904179C>G c.1434C>G c.(1432-1434)ctC>ctG p.L478L BLCA 20 11904279 11904279 + Missense_Mutation SNP G G A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 g.chr20:11904279G>A c.1534G>A c.(1534-1536)Gga>Aga p.G512R BRCA 20 11899026 11899026 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr20:11899026A>C c.103A>C c.(103-105)Acc>Ccc p.T35P BRCA 20 11900400 11900400 + Missense_Mutation SNP C C T TCGA-AO-A12F-01A-11D-A10Y-09 TCGA-AO-A12F-10A-01D-A110-09 g.chr20:11900400C>T c.452C>T c.(451-453)gCg>gTg p.A151V BRCA 20 11903291 11903291 + Silent SNP T T C TCGA-A8-A091-01A-11W-A019-09 TCGA-A8-A091-10A-01W-A021-09 g.chr20:11903291T>C c.546T>C c.(544-546)taT>taC p.Y182Y BRCA 20 11903365 11903365 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr20:11903365A>C c.620A>C c.(619-621)cAc>cCc p.H207P BRCA 20 11903405 11903405 + Silent SNP G G A TCGA-E2-A2P6-01A-11D-A19Y-09 TCGA-E2-A2P6-10B-01D-A19Y-09 g.chr20:11903405G>A c.660G>A c.(658-660)ctG>ctA p.L220L BRCA 20 11903822 11903823 + Frame_Shift_Ins INS - - GC TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr20:11903822_11903823insGC c.1077_1078insGC c.(1078-1080)cttfs p.L360fs BRCA 20 11903955 11903955 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chr20:11903955A>G c.1210A>G c.(1210-1212)Aga>Gga p.R404G BRCA 20 11904104 11904104 + Silent SNP A A G TCGA-BH-A1EN-01A-11D-A17G-09 TCGA-BH-A1EN-11A-23W-A14R-09 g.chr20:11904104A>G c.1359A>G c.(1357-1359)gtA>gtG p.V453V BRCA 20 11904305 11904305 + Silent SNP C C T TCGA-BH-A1FH-01A-12D-A13L-09 TCGA-BH-A1FH-11B-42D-A13O-09 g.chr20:11904305C>T c.1560C>T c.(1558-1560)ttC>ttT p.F520F COAD 20 11899037 11899037 + Silent SNP C C T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr20:11899037C>T c.114C>T c.(112-114)agC>agT p.S38S COAD 20 11899074 11899074 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr20:11899074G>A c.151G>A c.(151-153)Gaa>Aaa p.E51K COAD 20 11900419 11900419 + Silent SNP T T A TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr20:11900419T>A c.471T>A c.(469-471)ctT>ctA p.L157L COAD 20 11900477 11900477 + Missense_Mutation SNP A A G TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr20:11900477A>G c.529A>G c.(529-531)Atg>Gtg p.M177V COAD 20 11903397 11903397 + Missense_Mutation SNP A A G TCGA-A6-6137-01A-11D-1771-10 TCGA-A6-6137-10A-01D-1806-10 g.chr20:11903397A>G c.652A>G c.(652-654)Acc>Gcc p.T218A COAD 20 11903397 11903397 + Missense_Mutation SNP A A G TCGA-AA-3662-01A-01D-1719-10 TCGA-AA-3662-11A-01D-1719-10 g.chr20:11903397A>G c.652A>G c.(652-654)Acc>Gcc p.T218A COAD 20 11903397 11903397 + Missense_Mutation SNP A A G TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr20:11903397A>G c.652A>G c.(652-654)Acc>Gcc p.T218A COAD 20 11903397 11903397 + Missense_Mutation SNP A A G TCGA-D5-6541-01A-11D-1719-10 TCGA-D5-6541-10A-01D-1719-10 g.chr20:11903397A>G c.652A>G c.(652-654)Acc>Gcc p.T218A COAD 20 11903397 11903397 + Missense_Mutation SNP A A G TCGA-G4-6315-01A-11D-1719-10 TCGA-G4-6315-10A-01D-1720-10 g.chr20:11903397A>G c.652A>G c.(652-654)Acc>Gcc p.T218A COAD 20 11903472 11903472 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr20:11903472C>T c.727C>T c.(727-729)Cgt>Tgt p.R243C COAD 20 11903653 11903653 + Missense_Mutation SNP C C T TCGA-G4-6321-01A-11D-1719-10 TCGA-G4-6321-10A-01D-1720-10 g.chr20:11903653C>T c.908C>T c.(907-909)gCg>gTg p.A303V COAD 20 11903654 11903654 + Silent SNP G G A TCGA-AZ-6599-01A-11D-1771-10 TCGA-AZ-6599-11A-01D-1771-10 g.chr20:11903654G>A c.909G>A c.(907-909)gcG>gcA p.A303A COAD 20 11903885 11903885 + Silent SNP G G A TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr20:11903885G>A c.1140G>A c.(1138-1140)tcG>tcA p.S380S COAD 20 11903908 11903908 + Missense_Mutation SNP G G T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr20:11903908G>T c.1163G>T c.(1162-1164)tGg>tTg p.W388L COAD 20 11903916 11903916 + Missense_Mutation SNP C C T TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr20:11903916C>T c.1171C>T c.(1171-1173)Cgt>Tgt p.R391C COAD 20 11903989 11903989 + Missense_Mutation SNP C C G TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr20:11903989C>G c.1244C>G c.(1243-1245)tCc>tGc p.S415C COAD 20 11903993 11903993 + Missense_Mutation SNP C C A TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr20:11903993C>A c.1248C>A c.(1246-1248)agC>agA p.S416R COAD 20 11904041 11904041 + Silent SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr20:11904041C>T c.1296C>T c.(1294-1296)ggC>ggT p.G432G COAD 20 11904281 11904281 + Silent SNP A A G TCGA-A6-6137-01A-11D-1771-10 TCGA-A6-6137-10A-01D-1806-10 g.chr20:11904281A>G c.1536A>G c.(1534-1536)ggA>ggG p.G512G COAD 20 11904281 11904281 + Silent SNP A A G TCGA-CM-5862-01A-01D-1650-10 TCGA-CM-5862-10A-01D-1650-10 g.chr20:11904281A>G c.1536A>G c.(1534-1536)ggA>ggG p.G512G COAD 20 11904281 11904281 + Silent SNP A A G TCGA-G4-6310-01A-11D-1719-10 TCGA-G4-6310-10A-01D-1720-10 g.chr20:11904281A>G c.1536A>G c.(1534-1536)ggA>ggG p.G512G COADREAD 20 11899037 11899037 + Silent SNP C C T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr20:11899037C>T c.114C>T c.(112-114)agC>agT p.S38S COADREAD 20 11899074 11899074 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr20:11899074G>A c.151G>A c.(151-153)Gaa>Aaa p.E51K COADREAD 20 11900419 11900419 + Silent SNP T T A TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr20:11900419T>A c.471T>A c.(469-471)ctT>ctA p.L157L COADREAD 20 11900477 11900477 + Missense_Mutation SNP A A G TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr20:11900477A>G c.529A>G c.(529-531)Atg>Gtg p.M177V COADREAD 20 11903397 11903397 + Missense_Mutation SNP A A G TCGA-A6-6137-01A-11D-1771-10 TCGA-A6-6137-10A-01D-1806-10 g.chr20:11903397A>G c.652A>G c.(652-654)Acc>Gcc p.T218A COADREAD 20 11903397 11903397 + Missense_Mutation SNP A A G TCGA-AA-3662-01A-01D-1719-10 TCGA-AA-3662-11A-01D-1719-10 g.chr20:11903397A>G c.652A>G c.(652-654)Acc>Gcc p.T218A COADREAD 20 11903397 11903397 + Missense_Mutation SNP A A G TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr20:11903397A>G c.652A>G c.(652-654)Acc>Gcc p.T218A COADREAD 20 11903397 11903397 + Missense_Mutation SNP A A G TCGA-D5-6541-01A-11D-1719-10 TCGA-D5-6541-10A-01D-1719-10 g.chr20:11903397A>G c.652A>G c.(652-654)Acc>Gcc p.T218A COADREAD 20 11903397 11903397 + Missense_Mutation SNP A A G TCGA-G4-6315-01A-11D-1719-10 TCGA-G4-6315-10A-01D-1720-10 g.chr20:11903397A>G c.652A>G c.(652-654)Acc>Gcc p.T218A COADREAD 20 11903472 11903472 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr20:11903472C>T c.727C>T c.(727-729)Cgt>Tgt p.R243C COADREAD 20 11903653 11903653 + Missense_Mutation SNP C C T TCGA-G4-6321-01A-11D-1719-10 TCGA-G4-6321-10A-01D-1720-10 g.chr20:11903653C>T c.908C>T c.(907-909)gCg>gTg p.A303V COADREAD 20 11903654 11903654 + Silent SNP G G A TCGA-AZ-6599-01A-11D-1771-10 TCGA-AZ-6599-11A-01D-1771-10 g.chr20:11903654G>A c.909G>A c.(907-909)gcG>gcA p.A303A COADREAD 20 11903885 11903885 + Silent SNP G G A TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr20:11903885G>A c.1140G>A c.(1138-1140)tcG>tcA p.S380S COADREAD 20 11903908 11903908 + Missense_Mutation SNP G G T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr20:11903908G>T c.1163G>T c.(1162-1164)tGg>tTg p.W388L COADREAD 20 11903916 11903916 + Missense_Mutation SNP C C T TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr20:11903916C>T c.1171C>T c.(1171-1173)Cgt>Tgt p.R391C COADREAD 20 11903989 11903989 + Missense_Mutation SNP C C G TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr20:11903989C>G c.1244C>G c.(1243-1245)tCc>tGc p.S415C COADREAD 20 11903993 11903993 + Missense_Mutation SNP C C A TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr20:11903993C>A c.1248C>A c.(1246-1248)agC>agA p.S416R COADREAD 20 11904041 11904041 + Silent SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr20:11904041C>T c.1296C>T c.(1294-1296)ggC>ggT p.G432G COADREAD 20 11904281 11904281 + Silent SNP A A G TCGA-A6-6137-01A-11D-1771-10 TCGA-A6-6137-10A-01D-1806-10 g.chr20:11904281A>G c.1536A>G c.(1534-1536)ggA>ggG p.G512G COADREAD 20 11904281 11904281 + Silent SNP A A G TCGA-CM-5862-01A-01D-1650-10 TCGA-CM-5862-10A-01D-1650-10 g.chr20:11904281A>G c.1536A>G c.(1534-1536)ggA>ggG p.G512G COADREAD 20 11904281 11904281 + Silent SNP A A G TCGA-G4-6310-01A-11D-1719-10 TCGA-G4-6310-10A-01D-1720-10 g.chr20:11904281A>G c.1536A>G c.(1534-1536)ggA>ggG p.G512G ESCA 20 11904297 11904297 + Missense_Mutation SNP C C T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 g.chr20:11904297C>T c.1552C>T c.(1552-1554)Ctt>Ttt p.L518F GBM 20 11899075 11899075 + Missense_Mutation SNP A A G TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 g.chr20:11899075A>G c.152A>G c.(151-153)gAa>gGa p.E51G GBM 20 11900455 11900455 + Silent SNP C C G TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 g.chr20:11900455C>G c.507C>G c.(505-507)gtC>gtG p.V169V GBMLGG 20 11899075 11899075 + Missense_Mutation SNP A A G TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 g.chr20:11899075A>G c.152A>G c.(151-153)gAa>gGa p.E51G GBMLGG 20 11899098 11899100 + In_Frame_Del DEL AAG AAG - TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 g.chr20:11899098_11899100delAAG c.175_177delAAG c.(175-177)aagdel p.K61del GBMLGG 20 11900455 11900455 + Silent SNP C C G TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 g.chr20:11900455C>G c.507C>G c.(505-507)gtC>gtG p.V169V HNSC 20 11899106 11899106 + Missense_Mutation SNP G G T TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 g.chr20:11899106G>T c.183G>T c.(181-183)aaG>aaT p.K61N HNSC 20 11899749 11899749 + Silent SNP C C T TCGA-TN-A7HL-01A-11D-A34J-08 TCGA-TN-A7HL-10A-01D-A34M-08 g.chr20:11899749C>T c.342C>T c.(340-342)ttC>ttT p.F114F HNSC 20 11903288 11903288 + Missense_Mutation SNP C C G TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 g.chr20:11903288C>G c.543C>G c.(541-543)atC>atG p.I181M HNSC 20 11903518 11903518 + Missense_Mutation SNP C C A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 g.chr20:11903518C>A c.773C>A c.(772-774)tCt>tAt p.S258Y HNSC 20 11903566 11903566 + Missense_Mutation SNP G G A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 g.chr20:11903566G>A c.821G>A c.(820-822)cGt>cAt p.R274H HNSC 20 11903683 11903683 + Missense_Mutation SNP T T A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 g.chr20:11903683T>A c.938T>A c.(937-939)cTa>cAa p.L313Q HNSC 20 11903761 11903761 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr20:11903761T>C c.1016T>C c.(1015-1017)gTa>gCa p.V339A KICH 20 11903397 11903397 + Missense_Mutation SNP A A G TCGA-KO-8408-01A-11D-2310-10 TCGA-KO-8408-11A-01D-2311-10 g.chr20:11903397A>G c.652A>G c.(652-654)Acc>Gcc p.T218A KIPAN 20 11898938 11898938 + Missense_Mutation SNP G G T TCGA-5P-A9JY-01A-11D-A42J-10 TCGA-5P-A9JY-10A-01D-A42M-10 g.chr20:11898938G>T c.15G>T c.(13-15)aaG>aaT p.K5N KIPAN 20 11903397 11903397 + Missense_Mutation SNP A A G TCGA-KO-8408-01A-11D-2310-10 TCGA-KO-8408-11A-01D-2311-10 g.chr20:11903397A>G c.652A>G c.(652-654)Acc>Gcc p.T218A KIRP 20 11898938 11898938 + Missense_Mutation SNP G G T TCGA-5P-A9JY-01A-11D-A42J-10 TCGA-5P-A9JY-10A-01D-A42M-10 g.chr20:11898938G>T c.15G>T c.(13-15)aaG>aaT p.K5N LGG 20 11899098 11899100 + In_Frame_Del DEL AAG AAG - TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 g.chr20:11899098_11899100delAAG c.175_177delAAG c.(175-177)aagdel p.K61del LIHC 20 11899220 11899220 + Nonsense_Mutation SNP G G A TCGA-3K-AAZ8-01A-12D-A38X-10 TCGA-3K-AAZ8-10A-01D-A38X-10 g.chr20:11899220G>A c.297G>A c.(295-297)tgG>tgA p.W99* LUAD 20 11898955 11898955 + Missense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 g.chr20:11898955G>T c.32G>T c.(31-33)tGt>tTt p.C11F LUAD 20 11899001 11899001 + Silent SNP C C G TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 g.chr20:11899001C>G c.78C>G c.(76-78)tcC>tcG p.S26S LUAD 20 11899098 11899100 + In_Frame_Del DEL AAG AAG - TCGA-78-7163-01A-12D-2063-08 TCGA-78-7163-11A-01D-2063-08 g.chr20:11899098_11899100delAAG c.175_177delAAG c.(175-177)aagdel p.K61del LUAD 20 11900381 11900381 + Missense_Mutation SNP G G T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 g.chr20:11900381G>T c.433G>T c.(433-435)Ggg>Tgg p.G145W LUAD 20 11900471 11900471 + Missense_Mutation SNP C C T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 g.chr20:11900471C>T c.523C>T c.(523-525)Ctc>Ttc p.L175F LUAD 20 11903467 11903467 + Missense_Mutation SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 g.chr20:11903467C>T c.722C>T c.(721-723)aCc>aTc p.T241I LUAD 20 11903469 11903469 + Nonsense_Mutation SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 g.chr20:11903469C>T c.724C>T c.(724-726)Cag>Tag p.Q242* LUAD 20 11903589 11903589 + Missense_Mutation SNP G G A TCGA-49-6743-01A-11D-1855-08 TCGA-49-6743-11A-01D-1855-08 g.chr20:11903589G>A c.844G>A c.(844-846)Gaa>Aaa p.E282K LUAD 20 11903919 11903919 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 g.chr20:11903919G>C c.1174G>C c.(1174-1176)Ggt>Cgt p.G392R LUAD 20 11904038 11904038 + Missense_Mutation SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 g.chr20:11904038G>T c.1293G>T c.(1291-1293)caG>caT p.Q431H LUAD 20 11904039 11904039 + Missense_Mutation SNP G G T TCGA-78-8662-01A-11D-2393-08 TCGA-78-8662-10A-01D-2393-08 g.chr20:11904039G>T c.1294G>T c.(1294-1296)Ggc>Tgc p.G432C LUSC 20 11899249 11899249 + Splice_Site SNP G G T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 g.chr20:11899249G>T c.326G>T c.(325-327)aGa>aTa p.R109I LUSC 20 11899807 11899807 + Missense_Mutation SNP C C T TCGA-66-2773-01A-01D-1267-08 TCGA-66-2773-11A-01D-1267-08 g.chr20:11899807C>T c.400C>T c.(400-402)Cgg>Tgg p.R134W LUSC 20 11903423 11903424 + Missense_Mutation DNP TG TG CT TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 g.chr20:11903423_11903424TG>CT c.678_679TG>CT c.(676-681)tgTGtg>tgCTtg p.V227L LUSC 20 11903866 11903866 + Missense_Mutation SNP G G A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 g.chr20:11903866G>A c.1121G>A c.(1120-1122)cGc>cAc p.R374H OV 20 11903398 11903398 + Missense_Mutation SNP C C G TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 g.chr20:11903398C>G c.653C>G c.(652-654)aCc>aGc p.T218S OV 20 11903653 11903653 + Missense_Mutation SNP C C A TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 g.chr20:11903653C>A c.908C>A c.(907-909)gCg>gAg p.A303E OV 20 11904279 11904279 + Missense_Mutation SNP G G A TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 g.chr20:11904279G>A c.1534G>A c.(1534-1536)Gga>Aga p.G512R PAAD 20 11899817 11899817 + Missense_Mutation SNP G G A TCGA-FB-AAQ6-01A-11D-A40W-08 TCGA-FB-AAQ6-11A-11D-A40W-08 g.chr20:11899817G>A c.410G>A c.(409-411)gGa>gAa p.G137E PRAD 20 11903707 11903707 + Missense_Mutation SNP G G A TCGA-XQ-A8TB-01A-11D-A364-08 TCGA-XQ-A8TB-10A-01D-A362-08 g.chr20:11903707G>A c.962G>A c.(961-963)cGc>cAc p.R321H PRAD 20 11904136 11904136 + Missense_Mutation SNP A A G TCGA-ZG-A9L1-01A-11D-A41K-08 TCGA-ZG-A9L1-10A-01D-A41N-08 g.chr20:11904136A>G c.1391A>G c.(1390-1392)gAc>gGc p.D464G SKCM 20 11898985 11898985 + Missense_Mutation SNP C C T TCGA-D9-A6E9-06A-12D-A30X-08 TCGA-D9-A6E9-10A-01D-A30X-08 g.chr20:11898985C>T c.62C>T c.(61-63)aCg>aTg p.T21M SKCM 20 11903450 11903450 + Silent SNP C C T TCGA-DA-A1HV-06A-21D-A196-08 TCGA-DA-A1HV-10A-01D-A198-08 g.chr20:11903450C>T c.705C>T c.(703-705)ttC>ttT p.F235F SKCM 20 11903564 11903564 + Silent SNP C C T TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr20:11903564C>T c.819C>T c.(817-819)ctC>ctT p.L273L SKCM 20 11903859 11903859 + Missense_Mutation SNP C C T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 g.chr20:11903859C>T c.1114C>T c.(1114-1116)Ccc>Tcc p.P372S SKCM 20 11903873 11903873 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 g.chr20:11903873C>T c.1128C>T c.(1126-1128)caC>caT p.H376H SKCM 20 11903874 11903874 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 g.chr20:11903874C>T c.1129C>T c.(1129-1131)Cgt>Tgt p.R377C SKCM 20 11903895 11903895 + Missense_Mutation SNP C C G TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 g.chr20:11903895C>G c.1150C>G c.(1150-1152)Cga>Gga p.R384G SKCM 20 11903963 11903963 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr20:11903963C>T c.1218C>T c.(1216-1218)ttC>ttT p.F406F SKCM 20 11903989 11903989 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 g.chr20:11903989C>T c.1244C>T c.(1243-1245)tCc>tTc p.S415F

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BOCA-FR 20 11899071 11899071 single base substitution T A 5_prime_UTR_variant BOCA-FR 20 11899071 11899071 single base substitution T A missense_variant Y50N 148T>A BOCA-FR 20 11899071 11899071 single base substitution T A upstream_gene_variant BRCA-EU 20 11867161 11867161 single base substitution T C upstream_gene_variant BRCA-EU 20 11867203 11867203 deletion of <=200bp A - upstream_gene_variant BRCA-EU 20 11867459 11867459 single base substitution C A upstream_gene_variant BRCA-EU 20 11867463 11867463 single base substitution C G upstream_gene_variant BRCA-EU 20 11868063 11868063 single base substitution T C upstream_gene_variant BRCA-EU 20 11868538 11868538 single base substitution T C upstream_gene_variant BRCA-EU 20 11868646 11868646 single base substitution T A upstream_gene_variant BRCA-EU 20 11869979 11869979 insertion of <=200bp - T upstream_gene_variant BRCA-EU 20 11871615 11871615 single base substitution G T intron_variant BRCA-EU 20 11871615 11871615 single base substitution G T upstream_gene_variant BRCA-EU 20 11871829 11871829 single base substitution G A intron_variant BRCA-EU 20 11871829 11871829 single base substitution G A upstream_gene_variant BRCA-EU 20 11872298 11872298 single base substitution G C intron_variant BRCA-EU 20 11872298 11872298 single base substitution G C upstream_gene_variant BRCA-EU 20 11872421 11872421 single base substitution C G intron_variant BRCA-EU 20 11872421 11872421 single base substitution C G upstream_gene_variant BRCA-EU 20 11872701 11872701 single base substitution C T intron_variant BRCA-EU 20 11872701 11872701 single base substitution C T upstream_gene_variant BRCA-EU 20 11873084 11873084 single base substitution T G intron_variant BRCA-EU 20 11873084 11873084 single base substitution T G upstream_gene_variant BRCA-EU 20 11873131 11873131 single base substitution A T intron_variant BRCA-EU 20 11873131 11873131 single base substitution A T upstream_gene_variant BRCA-EU 20 11874930 11874930 single base substitution G T intron_variant BRCA-EU 20 11875167 11875167 single base substitution T G intron_variant BRCA-EU 20 11875316 11875316 single base substitution A G intron_variant BRCA-EU 20 11876359 11876359 single base substitution A G intron_variant BRCA-EU 20 11876486 11876486 single base substitution T A intron_variant BRCA-EU 20 11877462 11877462 single base substitution C T intron_variant BRCA-EU 20 11877496 11877496 single base substitution G T intron_variant BRCA-EU 20 11879010 11879010 deletion of <=200bp C - intron_variant BRCA-EU 20 11879468 11879468 single base substitution G C intron_variant BRCA-EU 20 11880201 11880201 deletion of <=200bp T - intron_variant BRCA-EU 20 11880821 11880821 single base substitution A G intron_variant BRCA-EU 20 11881151 11881151 single base substitution G T intron_variant BRCA-EU 20 11881161 11881161 single base substitution A G intron_variant BRCA-EU 20 11881486 11881486 single base substitution G T intron_variant BRCA-EU 20 11882664 11882664 single base substitution C T intron_variant BRCA-EU 20 11883754 11883754 single base substitution C G intron_variant BRCA-EU 20 11884185 11884185 single base substitution C T intron_variant BRCA-EU 20 11885195 11885195 single base substitution C G intron_variant BRCA-EU 20 11885419 11885419 single base substitution G A intron_variant BRCA-EU 20 11886106 11886106 single base substitution T C intron_variant BRCA-EU 20 11887586 11887586 deletion of <=200bp T - intron_variant BRCA-EU 20 11888260 11888260 single base substitution C G intron_variant BRCA-EU 20 11888579 11888579 single base substitution C T intron_variant BRCA-EU 20 11888769 11888769 single base substitution T C intron_variant BRCA-EU 20 11890414 11890418 deletion of <=200bp CAAAA - intron_variant BRCA-EU 20 11892365 11892365 deletion of <=200bp T - intron_variant BRCA-EU 20 11893672 11893672 deletion of <=200bp A - intron_variant BRCA-EU 20 11893672 11893672 deletion of <=200bp A - upstream_gene_variant BRCA-EU 20 11898393 11898393 single base substitution C A intron_variant BRCA-EU 20 11898393 11898393 single base substitution C A upstream_gene_variant BRCA-EU 20 11898970 11898970 single base substitution T C intron_variant BRCA-EU 20 11898970 11898970 single base substitution T C missense_variant L16S 47T>C BRCA-EU 20 11898970 11898970 single base substitution T C upstream_gene_variant BRCA-EU 20 11899158 11899158 single base substitution A C downstream_gene_variant BRCA-EU 20 11899158 11899158 single base substitution A C exon_variant BRCA-EU 20 11899158 11899158 single base substitution A C missense_variant S18R 52A>C BRCA-EU 20 11899158 11899158 single base substitution A C missense_variant S79R 235A>C BRCA-EU 20 11899158 11899158 single base substitution A C upstream_gene_variant BRCA-EU 20 11899413 11899413 single base substitution C A downstream_gene_variant BRCA-EU 20 11899413 11899413 single base substitution C A intron_variant BRCA-EU 20 11899413 11899413 single base substitution C A upstream_gene_variant BRCA-EU 20 11899990 11899990 single base substitution T C downstream_gene_variant BRCA-EU 20 11899990 11899990 single base substitution T C exon_variant BRCA-EU 20 11899990 11899990 single base substitution T C intron_variant BRCA-EU 20 11899990 11899990 single base substitution T C upstream_gene_variant BRCA-EU 20 11900251 11900251 single base substitution G C downstream_gene_variant BRCA-EU 20 11900251 11900251 single base substitution G C exon_variant BRCA-EU 20 11900251 11900251 single base substitution G C intron_variant BRCA-EU 20 11900251 11900251 single base substitution G C upstream_gene_variant BRCA-EU 20 11900269 11900269 deletion of <=200bp T - downstream_gene_variant BRCA-EU 20 11900269 11900269 deletion of <=200bp T - exon_variant BRCA-EU 20 11900269 11900269 deletion of <=200bp T - intron_variant BRCA-EU 20 11900269 11900269 deletion of <=200bp T - upstream_gene_variant BRCA-EU 20 11900340 11900340 single base substitution G T downstream_gene_variant BRCA-EU 20 11900340 11900340 single base substitution G T exon_variant BRCA-EU 20 11900340 11900340 single base substitution G T intron_variant BRCA-EU 20 11900340 11900340 single base substitution G T upstream_gene_variant BRCA-EU 20 11901740 11901740 single base substitution A C downstream_gene_variant BRCA-EU 20 11901740 11901740 single base substitution A C intron_variant BRCA-EU 20 11901740 11901740 single base substitution A C upstream_gene_variant BRCA-EU 20 11902363 11902363 single base substitution T C downstream_gene_variant BRCA-EU 20 11902363 11902363 single base substitution T C intron_variant BRCA-EU 20 11903027 11903027 single base substitution G A downstream_gene_variant BRCA-EU 20 11903027 11903027 single base substitution G A intron_variant BRCA-EU 20 11906057 11906057 single base substitution C T 3_prime_UTR_variant BRCA-EU 20 11906057 11906057 single base substitution C T downstream_gene_variant BRCA-EU 20 11906210 11906210 insertion of <=200bp - A 3_prime_UTR_variant BRCA-EU 20 11906210 11906210 insertion of <=200bp - A downstream_gene_variant BRCA-EU 20 11906468 11906468 single base substitution C T 3_prime_UTR_variant BRCA-EU 20 11906468 11906468 single base substitution C T downstream_gene_variant BRCA-EU 20 11906571 11906571 single base substitution A G 3_prime_UTR_variant BRCA-EU 20 11906571 11906571 single base substitution A G downstream_gene_variant BRCA-EU 20 11907421 11907421 single base substitution A C downstream_gene_variant BRCA-EU 20 11907506 11907522 deletion of <=200bp ATTCGTGGTTGGCCGGT - downstream_gene_variant BRCA-EU 20 11908221 11908221 deletion of <=200bp A - downstream_gene_variant BRCA-EU 20 11908426 11908426 single base substitution T C downstream_gene_variant BRCA-EU 20 11908902 11908902 single base substitution A G downstream_gene_variant BRCA-EU 20 11910079 11910079 single base substitution G A downstream_gene_variant BRCA-EU 20 11910134 11910134 single base substitution C T downstream_gene_variant BRCA-EU 20 11910316 11910316 single base substitution G A downstream_gene_variant BRCA-EU 20 11911458 11911458 single base substitution G C downstream_gene_variant BRCA-FR 20 11868063 11868063 single base substitution T C upstream_gene_variant BRCA-FR 20 11871615 11871615 single base substitution G T intron_variant BRCA-FR 20 11871615 11871615 single base substitution G T upstream_gene_variant BRCA-FR 20 11876486 11876486 single base substitution T A intron_variant BRCA-FR 20 11877462 11877462 single base substitution C T intron_variant BRCA-FR 20 11899069 11899069 single base substitution G T 5_prime_UTR_variant BRCA-FR 20 11899069 11899069 single base substitution G T missense_variant C49F 146G>T BRCA-FR 20 11899069 11899069 single base substitution G T upstream_gene_variant BRCA-FR 20 11899864 11899864 single base substitution A G downstream_gene_variant BRCA-FR 20 11899864 11899864 single base substitution A G intron_variant BRCA-FR 20 11899864 11899864 single base substitution A G upstream_gene_variant BRCA-FR 20 11899990 11899990 single base substitution T C downstream_gene_variant BRCA-FR 20 11899990 11899990 single base substitution T C exon_variant BRCA-FR 20 11899990 11899990 single base substitution T C intron_variant BRCA-FR 20 11899990 11899990 single base substitution T C upstream_gene_variant BRCA-FR 20 11906468 11906468 single base substitution C T 3_prime_UTR_variant BRCA-FR 20 11906468 11906468 single base substitution C T downstream_gene_variant BRCA-FR 20 11907421 11907421 single base substitution A C downstream_gene_variant BRCA-FR 20 11910134 11910134 single base substitution C T downstream_gene_variant BRCA-UK 20 11867203 11867203 deletion of <=200bp A - upstream_gene_variant BRCA-UK 20 11876479 11876479 single base substitution G A intron_variant BRCA-UK 20 11886336 11886336 single base substitution C T intron_variant BRCA-UK 20 11899106 11899106 single base substitution G A 5_prime_UTR_variant BRCA-UK 20 11899106 11899106 single base substitution G A synonymous_variant K61K 183G>A BRCA-UK 20 11899106 11899106 single base substitution G A upstream_gene_variant BRCA-UK 20 11903379 11903379 single base substitution T G 3_prime_UTR_variant BRCA-UK 20 11903379 11903379 single base substitution T G downstream_gene_variant BRCA-UK 20 11903379 11903379 single base substitution T G exon_variant BRCA-UK 20 11903379 11903379 single base substitution T G missense_variant C101G 301T>G BRCA-UK 20 11903379 11903379 single base substitution T G missense_variant C151G 451T>G BRCA-UK 20 11903379 11903379 single base substitution T G missense_variant C212G 634T>G BRCA-US 20 11899026 11899026 single base substitution A C 5_prime_UTR_variant BRCA-US 20 11899026 11899026 single base substitution A C missense_variant T35P 103A>C BRCA-US 20 11899026 11899026 single base substitution A C upstream_gene_variant BRCA-US 20 11900400 11900400 single base substitution C T 3_prime_UTR_variant BRCA-US 20 11900400 11900400 single base substitution C T downstream_gene_variant BRCA-US 20 11900400 11900400 single base substitution C T exon_variant BRCA-US 20 11900400 11900400 single base substitution C T missense_variant A151V 452C>T BRCA-US 20 11900400 11900400 single base substitution C T missense_variant A40V 119C>T BRCA-US 20 11900400 11900400 single base substitution C T missense_variant A90V 269C>T BRCA-US 20 11900400 11900400 single base substitution C T upstream_gene_variant BRCA-US 20 11903291 11903291 single base substitution T C 3_prime_UTR_variant BRCA-US 20 11903291 11903291 single base substitution T C downstream_gene_variant BRCA-US 20 11903291 11903291 single base substitution T C exon_variant BRCA-US 20 11903291 11903291 single base substitution T C synonymous_variant Y121Y 363T>C BRCA-US 20 11903291 11903291 single base substitution T C synonymous_variant Y182Y 546T>C BRCA-US 20 11903291 11903291 single base substitution T C synonymous_variant Y71Y 213T>C BRCA-US 20 11903365 11903365 single base substitution A C 3_prime_UTR_variant BRCA-US 20 11903365 11903365 single base substitution A C downstream_gene_variant BRCA-US 20 11903365 11903365 single base substitution A C exon_variant BRCA-US 20 11903365 11903365 single base substitution A C missense_variant H146P 437A>C BRCA-US 20 11903365 11903365 single base substitution A C missense_variant H207P 620A>C BRCA-US 20 11903365 11903365 single base substitution A C missense_variant H96P 287A>C BRCA-US 20 11903405 11903405 single base substitution G A 3_prime_UTR_variant BRCA-US 20 11903405 11903405 single base substitution G A downstream_gene_variant BRCA-US 20 11903405 11903405 single base substitution G A exon_variant BRCA-US 20 11903405 11903405 single base substitution G A synonymous_variant L109L 327G>A BRCA-US 20 11903405 11903405 single base substitution G A synonymous_variant L159L 477G>A BRCA-US 20 11903405 11903405 single base substitution G A synonymous_variant L220L 660G>A BRCA-US 20 11903822 11903822 insertion of <=200bp - GC downstream_gene_variant BRCA-US 20 11903822 11903822 insertion of <=200bp - GC frameshift_variant E298E? BRCA-US 20 11903822 11903822 insertion of <=200bp - GC frameshift_variant E359E? BRCA-US 20 11903955 11903955 single base substitution A G downstream_gene_variant BRCA-US 20 11903955 11903955 single base substitution A G missense_variant R343G 1027A>G BRCA-US 20 11903955 11903955 single base substitution A G missense_variant R404G 1210A>G BRCA-US 20 11904104 11904104 single base substitution A G downstream_gene_variant BRCA-US 20 11904104 11904104 single base substitution A G synonymous_variant V392V 1176A>G BRCA-US 20 11904104 11904104 single base substitution A G synonymous_variant V453V 1359A>G BRCA-US 20 11904305 11904305 single base substitution C T downstream_gene_variant BRCA-US 20 11904305 11904305 single base substitution C T synonymous_variant F459F 1377C>T BRCA-US 20 11904305 11904305 single base substitution C T synonymous_variant F520F 1560C>T BTCA-JP 20 11898962 11898964 deletion of <=200bp CTT - inframe_deletion TF13T BTCA-JP 20 11898962 11898964 deletion of <=200bp CTT - intron_variant BTCA-JP 20 11898962 11898964 deletion of <=200bp CTT - upstream_gene_variant BTCA-JP 20 11899269 11899269 single base substitution A G downstream_gene_variant BTCA-JP 20 11899269 11899269 single base substitution A G intron_variant BTCA-JP 20 11899269 11899269 single base substitution A G upstream_gene_variant BTCA-JP 20 11903727 11903727 single base substitution G A downstream_gene_variant BTCA-JP 20 11903727 11903727 single base substitution G A exon_variant BTCA-JP 20 11903727 11903727 single base substitution G A missense_variant D267N 799G>A BTCA-JP 20 11903727 11903727 single base substitution G A missense_variant D328N 982G>A CLLE-ES 20 11873797 11873797 single base substitution A C intron_variant CLLE-ES 20 11877871 11877871 single base substitution T G intron_variant CLLE-ES 20 11884933 11884933 single base substitution C T intron_variant CLLE-ES 20 11886125 11886125 single base substitution C A intron_variant CLLE-ES 20 11886153 11886153 single base substitution T C intron_variant CLLE-ES 20 11897125 11897125 single base substitution C A intron_variant CLLE-ES 20 11897125 11897125 single base substitution C A upstream_gene_variant CLLE-ES 20 11897239 11897239 single base substitution A G intron_variant CLLE-ES 20 11897239 11897239 single base substitution A G upstream_gene_variant CLLE-ES 20 11900084 11900084 single base substitution G A downstream_gene_variant CLLE-ES 20 11900084 11900084 single base substitution G A exon_variant CLLE-ES 20 11900084 11900084 single base substitution G A intron_variant CLLE-ES 20 11900084 11900084 single base substitution G A upstream_gene_variant CLLE-ES 20 11901303 11901303 single base substitution C A downstream_gene_variant CLLE-ES 20 11901303 11901303 single base substitution C A intron_variant CLLE-ES 20 11901303 11901303 single base substitution C A upstream_gene_variant CLLE-ES 20 11901427 11901427 single base substitution A G downstream_gene_variant CLLE-ES 20 11901427 11901427 single base substitution A G intron_variant CLLE-ES 20 11901427 11901427 single base substitution A G upstream_gene_variant CLLE-ES 20 11908627 11908627 single base substitution G A downstream_gene_variant COAD-US 20 11899037 11899037 single base substitution C T 5_prime_UTR_variant COAD-US 20 11899037 11899037 single base substitution C T synonymous_variant S38S 114C>T COAD-US 20 11899037 11899037 single base substitution C T upstream_gene_variant COAD-US 20 11900419 11900419 single base substitution T A 3_prime_UTR_variant COAD-US 20 11900419 11900419 single base substitution T A downstream_gene_variant COAD-US 20 11900419 11900419 single base substitution T A exon_variant COAD-US 20 11900419 11900419 single base substitution T A synonymous_variant L157L 471T>A COAD-US 20 11900419 11900419 single base substitution T A synonymous_variant L46L 138T>A COAD-US 20 11900419 11900419 single base substitution T A synonymous_variant L96L 288T>A COAD-US 20 11900419 11900419 single base substitution T A upstream_gene_variant COAD-US 20 11900477 11900477 single base substitution A G 3_prime_UTR_variant COAD-US 20 11900477 11900477 single base substitution A G downstream_gene_variant COAD-US 20 11900477 11900477 single base substitution A G exon_variant COAD-US 20 11900477 11900477 single base substitution A G missense_variant M116V 346A>G COAD-US 20 11900477 11900477 single base substitution A G missense_variant M177V 529A>G COAD-US 20 11900477 11900477 single base substitution A G missense_variant M66V 196A>G COAD-US 20 11900477 11900477 single base substitution A G upstream_gene_variant COAD-US 20 11903472 11903472 single base substitution C T 3_prime_UTR_variant COAD-US 20 11903472 11903472 single base substitution C T downstream_gene_variant COAD-US 20 11903472 11903472 single base substitution C T exon_variant COAD-US 20 11903472 11903472 single base substitution C T missense_variant R132C 394C>T COAD-US 20 11903472 11903472 single base substitution C T missense_variant R182C 544C>T COAD-US 20 11903472 11903472 single base substitution C T missense_variant R243C 727C>T COAD-US 20 11903654 11903654 single base substitution G A 3_prime_UTR_variant COAD-US 20 11903654 11903654 single base substitution G A downstream_gene_variant COAD-US 20 11903654 11903654 single base substitution G A exon_variant COAD-US 20 11903654 11903654 single base substitution G A synonymous_variant A242A 726G>A COAD-US 20 11903654 11903654 single base substitution G A synonymous_variant A303A 909G>A COAD-US 20 11903908 11903908 single base substitution G T downstream_gene_variant COAD-US 20 11903908 11903908 single base substitution G T missense_variant W327L 980G>T COAD-US 20 11903908 11903908 single base substitution G T missense_variant W388L 1163G>T COAD-US 20 11903916 11903916 single base substitution C T downstream_gene_variant COAD-US 20 11903916 11903916 single base substitution C T missense_variant R330C 988C>T COAD-US 20 11903916 11903916 single base substitution C T missense_variant R391C 1171C>T COAD-US 20 11903993 11903993 single base substitution C A downstream_gene_variant COAD-US 20 11903993 11903993 single base substitution C A missense_variant S355R 1065C>A COAD-US 20 11903993 11903993 single base substitution C A missense_variant S416R 1248C>A COAD-US 20 11904041 11904041 single base substitution C T downstream_gene_variant COAD-US 20 11904041 11904041 single base substitution C T synonymous_variant G371G 1113C>T COAD-US 20 11904041 11904041 single base substitution C T synonymous_variant G432G 1296C>T COAD-US 20 11904101 11904101 single base substitution C T downstream_gene_variant COAD-US 20 11904101 11904101 single base substitution C T synonymous_variant P391P 1173C>T COAD-US 20 11904101 11904101 single base substitution C T synonymous_variant P452P 1356C>T COCA-CN 20 11869791 11869791 single base substitution T C upstream_gene_variant COCA-CN 20 11900400 11900400 single base substitution C T 3_prime_UTR_variant COCA-CN 20 11900400 11900400 single base substitution C T downstream_gene_variant COCA-CN 20 11900400 11900400 single base substitution C T exon_variant COCA-CN 20 11900400 11900400 single base substitution C T missense_variant A151V 452C>T COCA-CN 20 11900400 11900400 single base substitution C T missense_variant A40V 119C>T COCA-CN 20 11900400 11900400 single base substitution C T missense_variant A90V 269C>T COCA-CN 20 11900400 11900400 single base substitution C T upstream_gene_variant COCA-CN 20 11900435 11900435 single base substitution G T 3_prime_UTR_variant COCA-CN 20 11900435 11900435 single base substitution G T downstream_gene_variant COCA-CN 20 11900435 11900435 single base substitution G T exon_variant COCA-CN 20 11900435 11900435 single base substitution G T stop_gained E102* 304G>T COCA-CN 20 11900435 11900435 single base substitution G T stop_gained E163* 487G>T COCA-CN 20 11900435 11900435 single base substitution G T stop_gained E52* 154G>T COCA-CN 20 11900435 11900435 single base substitution G T upstream_gene_variant COCA-CN 20 11903901 11903901 single base substitution A G downstream_gene_variant COCA-CN 20 11903901 11903901 single base substitution A G missense_variant N325D 973A>G COCA-CN 20 11903901 11903901 single base substitution A G missense_variant N386D 1156A>G EOPC-DE 20 11874594 11874594 single base substitution T A intron_variant ESAD-UK 20 11866407 11866407 single base substitution A C upstream_gene_variant ESAD-UK 20 11867412 11867412 single base substitution A G upstream_gene_variant ESAD-UK 20 11868944 11868944 single base substitution G A upstream_gene_variant ESAD-UK 20 11869773 11869773 insertion of <=200bp - TGTT upstream_gene_variant ESAD-UK 20 11870031 11870031 single base substitution G C upstream_gene_variant ESAD-UK 20 11870750 11870750 single base substitution C A upstream_gene_variant ESAD-UK 20 11872744 11872744 single base substitution C G intron_variant ESAD-UK 20 11872744 11872744 single base substitution C G upstream_gene_variant ESAD-UK 20 11873735 11873735 single base substitution G C intron_variant ESAD-UK 20 11875113 11875113 single base substitution G C intron_variant ESAD-UK 20 11876277 11876277 single base substitution G A intron_variant ESAD-UK 20 11876843 11876843 single base substitution C T intron_variant ESAD-UK 20 11877480 11877480 single base substitution G A intron_variant ESAD-UK 20 11877600 11877600 single base substitution C G intron_variant ESAD-UK 20 11882776 11882776 single base substitution C G intron_variant ESAD-UK 20 11883590 11883590 insertion of <=200bp - T intron_variant ESAD-UK 20 11884513 11884513 single base substitution C T intron_variant ESAD-UK 20 11885915 11885915 single base substitution C T intron_variant ESAD-UK 20 11887272 11887272 deletion of <=200bp A - intron_variant ESAD-UK 20 11887586 11887586 deletion of <=200bp T - intron_variant ESAD-UK 20 11888721 11888721 single base substitution T G intron_variant ESAD-UK 20 11891462 11891462 single base substitution G A intron_variant ESAD-UK 20 11894215 11894215 single base substitution G T intron_variant ESAD-UK 20 11894215 11894215 single base substitution G T upstream_gene_variant ESAD-UK 20 11898511 11898511 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 20 11898511 11898511 single base substitution C T intron_variant ESAD-UK 20 11898511 11898511 single base substitution C T upstream_gene_variant ESAD-UK 20 11899345 11899345 single base substitution T A downstream_gene_variant ESAD-UK 20 11899345 11899345 single base substitution T A intron_variant ESAD-UK 20 11899345 11899345 single base substitution T A upstream_gene_variant ESAD-UK 20 11899490 11899490 single base substitution T C 5_prime_UTR_variant ESAD-UK 20 11899490 11899490 single base substitution T C downstream_gene_variant ESAD-UK 20 11899490 11899490 single base substitution T C intron_variant ESAD-UK 20 11899490 11899490 single base substitution T C upstream_gene_variant ESAD-UK 20 11900046 11900046 single base substitution C G downstream_gene_variant ESAD-UK 20 11900046 11900046 single base substitution C G exon_variant ESAD-UK 20 11900046 11900046 single base substitution C G intron_variant ESAD-UK 20 11900046 11900046 single base substitution C G upstream_gene_variant ESAD-UK 20 11902909 11902909 single base substitution C A downstream_gene_variant ESAD-UK 20 11902909 11902909 single base substitution C A intron_variant ESAD-UK 20 11903569 11903569 single base substitution G A 3_prime_UTR_variant ESAD-UK 20 11903569 11903569 single base substitution G A downstream_gene_variant ESAD-UK 20 11903569 11903569 single base substitution G A exon_variant ESAD-UK 20 11903569 11903569 single base substitution G A missense_variant R214K 641G>A ESAD-UK 20 11903569 11903569 single base substitution G A missense_variant R275K 824G>A ESAD-UK 20 11903785 11903785 single base substitution A G downstream_gene_variant ESAD-UK 20 11903785 11903785 single base substitution A G missense_variant D286G 857A>G ESAD-UK 20 11903785 11903785 single base substitution A G missense_variant D347G 1040A>G ESAD-UK 20 11903893 11903893 single base substitution A G downstream_gene_variant ESAD-UK 20 11903893 11903893 single base substitution A G missense_variant Y322C 965A>G ESAD-UK 20 11903893 11903893 single base substitution A G missense_variant Y383C 1148A>G ESAD-UK 20 11905216 11905216 single base substitution G A 3_prime_UTR_variant ESAD-UK 20 11905216 11905216 single base substitution G A downstream_gene_variant ESAD-UK 20 11905926 11905926 single base substitution A G 3_prime_UTR_variant ESAD-UK 20 11905926 11905926 single base substitution A G downstream_gene_variant ESAD-UK 20 11906877 11906877 single base substitution C G 3_prime_UTR_variant ESAD-UK 20 11906877 11906877 single base substitution C G downstream_gene_variant ESAD-UK 20 11907277 11907277 single base substitution G T downstream_gene_variant ESAD-UK 20 11907335 11907335 single base substitution T G downstream_gene_variant ESAD-UK 20 11909514 11909514 single base substitution A T downstream_gene_variant ESAD-UK 20 11909806 11909806 single base substitution C G downstream_gene_variant ESAD-UK 20 11910082 11910082 single base substitution C T downstream_gene_variant GBM-US 20 11899075 11899075 single base substitution A G 5_prime_UTR_variant GBM-US 20 11899075 11899075 single base substitution A G missense_variant E51G 152A>G GBM-US 20 11899075 11899075 single base substitution A G upstream_gene_variant GBM-US 20 11900455 11900455 single base substitution C G 3_prime_UTR_variant GBM-US 20 11900455 11900455 single base substitution C G downstream_gene_variant GBM-US 20 11900455 11900455 single base substitution C G exon_variant GBM-US 20 11900455 11900455 single base substitution C G synonymous_variant V108V 324C>G GBM-US 20 11900455 11900455 single base substitution C G synonymous_variant V169V 507C>G GBM-US 20 11900455 11900455 single base substitution C G synonymous_variant V58V 174C>G GBM-US 20 11900455 11900455 single base substitution C G upstream_gene_variant LICA-CN 20 11899753 11899753 single base substitution A T downstream_gene_variant LICA-CN 20 11899753 11899753 single base substitution A T intron_variant LICA-CN 20 11899753 11899753 single base substitution A T missense_variant N116Y 346A>T LICA-CN 20 11899753 11899753 single base substitution A T missense_variant N55Y 163A>T LICA-CN 20 11899753 11899753 single base substitution A T missense_variant N5Y 13A>T LICA-CN 20 11899753 11899753 single base substitution A T upstream_gene_variant LICA-FR 20 11884532 11884532 single base substitution A T intron_variant LICA-FR 20 11897384 11897384 single base substitution G A intron_variant LICA-FR 20 11897384 11897384 single base substitution G A upstream_gene_variant LINC-JP 20 11880979 11880979 single base substitution A G intron_variant LINC-JP 20 11883688 11883688 single base substitution G A intron_variant LINC-JP 20 11897016 11897016 single base substitution C G intron_variant LINC-JP 20 11897016 11897016 single base substitution C G upstream_gene_variant LINC-JP 20 11899109 11899109 single base substitution G T exon_variant LINC-JP 20 11899109 11899109 single base substitution G T missense_variant M62I 186G>T LINC-JP 20 11899109 11899109 single base substitution G T start_lost M1I 3G>T LINC-JP 20 11899109 11899109 single base substitution G T upstream_gene_variant LINC-JP 20 11899315 11899315 single base substitution A T downstream_gene_variant LINC-JP 20 11899315 11899315 single base substitution A T intron_variant LINC-JP 20 11899315 11899315 single base substitution A T upstream_gene_variant LINC-JP 20 11899552 11899552 single base substitution A G 5_prime_UTR_premature_start_codon_gain_variant LINC-JP 20 11899552 11899552 single base substitution A G downstream_gene_variant LINC-JP 20 11899552 11899552 single base substitution A G intron_variant LINC-JP 20 11899552 11899552 single base substitution A G upstream_gene_variant LINC-JP 20 11899704 11899704 single base substitution T A 5_prime_UTR_variant LINC-JP 20 11899704 11899704 single base substitution T A downstream_gene_variant LINC-JP 20 11899704 11899704 single base substitution T A intron_variant LINC-JP 20 11899704 11899704 single base substitution T A upstream_gene_variant LINC-JP 20 11901222 11901222 single base substitution G A downstream_gene_variant LINC-JP 20 11901222 11901222 single base substitution G A intron_variant LINC-JP 20 11901222 11901222 single base substitution G A upstream_gene_variant LINC-JP 20 11903848 11903848 single base substitution A T downstream_gene_variant LINC-JP 20 11903848 11903848 single base substitution A T missense_variant K307M 920A>T LINC-JP 20 11903848 11903848 single base substitution A T missense_variant K368M 1103A>T LINC-JP 20 11908195 11908195 single base substitution A G downstream_gene_variant LINC-JP 20 11908467 11908467 single base substitution C G downstream_gene_variant LINC-JP 20 11909607 11909607 single base substitution A G downstream_gene_variant LIRI-JP 20 11866719 11866719 single base substitution T A upstream_gene_variant LIRI-JP 20 11868159 11868159 single base substitution A T upstream_gene_variant LIRI-JP 20 11868179 11868179 single base substitution G T upstream_gene_variant LIRI-JP 20 11868924 11868924 single base substitution A G upstream_gene_variant LIRI-JP 20 11869219 11869219 single base substitution T G upstream_gene_variant LIRI-JP 20 11869764 11869764 deletion of <=200bp C - upstream_gene_variant LIRI-JP 20 11872973 11872973 single base substitution C G intron_variant LIRI-JP 20 11872973 11872973 single base substitution C G upstream_gene_variant LIRI-JP 20 11873025 11873025 single base substitution C T intron_variant LIRI-JP 20 11873025 11873025 single base substitution C T upstream_gene_variant LIRI-JP 20 11873262 11873262 single base substitution G A intron_variant LIRI-JP 20 11874974 11874974 single base substitution A T intron_variant LIRI-JP 20 11879629 11879629 deletion of <=200bp G - intron_variant LIRI-JP 20 11880761 11880761 single base substitution A G intron_variant LIRI-JP 20 11881233 11881233 single base substitution A G intron_variant LIRI-JP 20 11881804 11881804 single base substitution A G intron_variant LIRI-JP 20 11882947 11882947 single base substitution A G intron_variant LIRI-JP 20 11883449 11883449 single base substitution T C intron_variant LIRI-JP 20 11885228 11885228 single base substitution T A intron_variant LIRI-JP 20 11886205 11886205 single base substitution G T intron_variant LIRI-JP 20 11887137 11887137 single base substitution C T intron_variant LIRI-JP 20 11888929 11888929 single base substitution A G intron_variant LIRI-JP 20 11888942 11888942 single base substitution C A intron_variant LIRI-JP 20 11890293 11890293 single base substitution G A intron_variant LIRI-JP 20 11891509 11891509 single base substitution C G intron_variant LIRI-JP 20 11891510 11891510 single base substitution A T intron_variant LIRI-JP 20 11892889 11892889 single base substitution G A intron_variant LIRI-JP 20 11892895 11892895 single base substitution T G intron_variant LIRI-JP 20 11896386 11896386 single base substitution T G intron_variant LIRI-JP 20 11896386 11896386 single base substitution T G upstream_gene_variant LIRI-JP 20 11899242 11899242 single base substitution A G downstream_gene_variant LIRI-JP 20 11899242 11899242 single base substitution A G exon_variant LIRI-JP 20 11899242 11899242 single base substitution A G missense_variant R107G 319A>G LIRI-JP 20 11899242 11899242 single base substitution A G missense_variant R46G 136A>G LIRI-JP 20 11899242 11899242 single base substitution A G upstream_gene_variant LIRI-JP 20 11901112 11901112 single base substitution A G downstream_gene_variant LIRI-JP 20 11901112 11901112 single base substitution A G intron_variant LIRI-JP 20 11901112 11901112 single base substitution A G upstream_gene_variant LIRI-JP 20 11902054 11902054 single base substitution G C downstream_gene_variant LIRI-JP 20 11902054 11902054 single base substitution G C intron_variant LIRI-JP 20 11902054 11902054 single base substitution G C upstream_gene_variant LIRI-JP 20 11902675 11902675 single base substitution A T downstream_gene_variant LIRI-JP 20 11902675 11902675 single base substitution A T intron_variant LIRI-JP 20 11903154 11903154 single base substitution A C downstream_gene_variant LIRI-JP 20 11903154 11903154 single base substitution A C intron_variant LIRI-JP 20 11903301 11903301 single base substitution A G 3_prime_UTR_variant LIRI-JP 20 11903301 11903301 single base substitution A G downstream_gene_variant LIRI-JP 20 11903301 11903301 single base substitution A G exon_variant LIRI-JP 20 11903301 11903301 single base substitution A G missense_variant I125V 373A>G LIRI-JP 20 11903301 11903301 single base substitution A G missense_variant I186V 556A>G LIRI-JP 20 11903301 11903301 single base substitution A G missense_variant I75V 223A>G LIRI-JP 20 11906309 11906309 single base substitution A G 3_prime_UTR_variant LIRI-JP 20 11906309 11906309 single base substitution A G downstream_gene_variant LIRI-JP 20 11907881 11907881 insertion of <=200bp - T downstream_gene_variant LIRI-JP 20 11908380 11908380 single base substitution C T downstream_gene_variant LIRI-JP 20 11910286 11910286 single base substitution A T downstream_gene_variant LIRI-JP 20 11910485 11910485 single base substitution T G downstream_gene_variant LIRI-JP 20 11910992 11910992 single base substitution A G downstream_gene_variant LUSC-KR 20 11866809 11866809 single base substitution C A upstream_gene_variant LUSC-KR 20 11869354 11869354 single base substitution C A upstream_gene_variant LUSC-KR 20 11876379 11876379 single base substitution G T intron_variant LUSC-KR 20 11876408 11876408 single base substitution C T intron_variant LUSC-KR 20 11877557 11877557 single base substitution A T intron_variant LUSC-KR 20 11878803 11878803 single base substitution C G intron_variant LUSC-KR 20 11882716 11882716 single base substitution A C intron_variant LUSC-KR 20 11885788 11885788 single base substitution G C intron_variant LUSC-KR 20 11891112 11891112 single base substitution G T intron_variant LUSC-KR 20 11895878 11895878 single base substitution G T intron_variant LUSC-KR 20 11895878 11895878 single base substitution G T upstream_gene_variant LUSC-KR 20 11898268 11898268 single base substitution A T intron_variant LUSC-KR 20 11898268 11898268 single base substitution A T upstream_gene_variant LUSC-KR 20 11902762 11902762 single base substitution G T downstream_gene_variant LUSC-KR 20 11902762 11902762 single base substitution G T intron_variant LUSC-KR 20 11904933 11904933 single base substitution A G 3_prime_UTR_variant LUSC-KR 20 11904933 11904933 single base substitution A G downstream_gene_variant LUSC-KR 20 11906404 11906404 single base substitution C G 3_prime_UTR_variant LUSC-KR 20 11906404 11906404 single base substitution C G downstream_gene_variant LUSC-KR 20 11906967 11906967 single base substitution G T 3_prime_UTR_variant LUSC-KR 20 11906967 11906967 single base substitution G T downstream_gene_variant LUSC-KR 20 11908415 11908415 single base substitution C G downstream_gene_variant LUSC-KR 20 11909247 11909247 single base substitution G T downstream_gene_variant LUSC-KR 20 11910467 11910467 single base substitution C T downstream_gene_variant LUSC-KR 20 11912221 11912221 single base substitution A T downstream_gene_variant LUSC-US 20 11899249 11899249 single base substitution G T downstream_gene_variant LUSC-US 20 11899249 11899249 single base substitution G T missense_variant R109I 326G>T LUSC-US 20 11899249 11899249 single base substitution G T missense_variant R48I 143G>T LUSC-US 20 11899249 11899249 single base substitution G T splice_region_variant LUSC-US 20 11899249 11899249 single base substitution G T upstream_gene_variant LUSC-US 20 11899807 11899807 single base substitution C T downstream_gene_variant LUSC-US 20 11899807 11899807 single base substitution C T intron_variant LUSC-US 20 11899807 11899807 single base substitution C T missense_variant R134W 400C>T LUSC-US 20 11899807 11899807 single base substitution C T missense_variant R23W 67C>T LUSC-US 20 11899807 11899807 single base substitution C T missense_variant R73W 217C>T LUSC-US 20 11899807 11899807 single base substitution C T upstream_gene_variant LUSC-US 20 11903423 11903423 single base substitution T C 3_prime_UTR_variant LUSC-US 20 11903423 11903423 single base substitution T C downstream_gene_variant LUSC-US 20 11903423 11903423 single base substitution T C exon_variant LUSC-US 20 11903423 11903423 single base substitution T C synonymous_variant C115C 345T>C LUSC-US 20 11903423 11903423 single base substitution T C synonymous_variant C165C 495T>C LUSC-US 20 11903423 11903423 single base substitution T C synonymous_variant C226C 678T>C LUSC-US 20 11903424 11903424 single base substitution G T 3_prime_UTR_variant LUSC-US 20 11903424 11903424 single base substitution G T downstream_gene_variant LUSC-US 20 11903424 11903424 single base substitution G T exon_variant LUSC-US 20 11903424 11903424 single base substitution G T missense_variant V116L 346G>T LUSC-US 20 11903424 11903424 single base substitution G T missense_variant V166L 496G>T LUSC-US 20 11903424 11903424 single base substitution G T missense_variant V227L 679G>T LUSC-US 20 11903866 11903866 single base substitution G A downstream_gene_variant LUSC-US 20 11903866 11903866 single base substitution G A missense_variant R313H 938G>A LUSC-US 20 11903866 11903866 single base substitution G A missense_variant R374H 1121G>A MALY-DE 20 11866456 11866456 single base substitution A G upstream_gene_variant MALY-DE 20 11866470 11866470 single base substitution C T upstream_gene_variant MALY-DE 20 11866587 11866587 single base substitution A C upstream_gene_variant MALY-DE 20 11867240 11867240 single base substitution A G upstream_gene_variant MALY-DE 20 11872424 11872424 single base substitution G C intron_variant MALY-DE 20 11872424 11872424 single base substitution G C upstream_gene_variant MALY-DE 20 11873152 11873152 single base substitution A G 5_prime_UTR_variant MALY-DE 20 11873152 11873152 single base substitution A G intron_variant MALY-DE 20 11873154 11873154 deletion of <=200bp T - 5_prime_UTR_variant MALY-DE 20 11873154 11873154 deletion of <=200bp T - intron_variant MALY-DE 20 11873405 11873405 single base substitution G T intron_variant MALY-DE 20 11873589 11873589 single base substitution C A intron_variant MALY-DE 20 11873648 11873648 single base substitution C T intron_variant MALY-DE 20 11874730 11874730 single base substitution A C intron_variant MALY-DE 20 11877469 11877469 single base substitution A G intron_variant MALY-DE 20 11879319 11879319 insertion of <=200bp - T intron_variant MALY-DE 20 11880030 11880030 single base substitution G T intron_variant MALY-DE 20 11881785 11881785 insertion of <=200bp - A intron_variant MALY-DE 20 11881951 11881951 single base substitution G T intron_variant MALY-DE 20 11882607 11882607 single base substitution T C intron_variant MALY-DE 20 11884781 11884781 single base substitution A G intron_variant MALY-DE 20 11885322 11885322 single base substitution T C intron_variant MALY-DE 20 11887586 11887586 deletion of <=200bp T - intron_variant MALY-DE 20 11888395 11888395 single base substitution G C intron_variant MALY-DE 20 11889748 11889748 single base substitution C A intron_variant MALY-DE 20 11889961 11889961 single base substitution A T intron_variant MALY-DE 20 11890132 11890132 single base substitution G A intron_variant MALY-DE 20 11890871 11890871 single base substitution C T intron_variant MALY-DE 20 11891215 11891215 single base substitution T C intron_variant MALY-DE 20 11891693 11891693 single base substitution C A intron_variant MALY-DE 20 11895230 11895230 single base substitution A G intron_variant MALY-DE 20 11895230 11895230 single base substitution A G upstream_gene_variant MALY-DE 20 11895840 11895840 single base substitution A G intron_variant MALY-DE 20 11895840 11895840 single base substitution A G upstream_gene_variant MALY-DE 20 11896274 11896274 single base substitution T A intron_variant MALY-DE 20 11896274 11896274 single base substitution T A upstream_gene_variant MALY-DE 20 11896922 11896922 single base substitution T C intron_variant MALY-DE 20 11896922 11896922 single base substitution T C upstream_gene_variant MALY-DE 20 11900979 11900979 single base substitution A G downstream_gene_variant MALY-DE 20 11900979 11900979 single base substitution A G intron_variant MALY-DE 20 11900979 11900979 single base substitution A G upstream_gene_variant MALY-DE 20 11901239 11901239 single base substitution C A downstream_gene_variant MALY-DE 20 11901239 11901239 single base substitution C A intron_variant MALY-DE 20 11901239 11901239 single base substitution C A upstream_gene_variant MALY-DE 20 11902835 11902835 single base substitution T A downstream_gene_variant MALY-DE 20 11902835 11902835 single base substitution T A intron_variant MALY-DE 20 11903335 11903335 single base substitution T C 3_prime_UTR_variant MALY-DE 20 11903335 11903335 single base substitution T C downstream_gene_variant MALY-DE 20 11903335 11903335 single base substitution T C exon_variant MALY-DE 20 11903335 11903335 single base substitution T C missense_variant L136P 407T>C MALY-DE 20 11903335 11903335 single base substitution T C missense_variant L197P 590T>C MALY-DE 20 11903335 11903335 single base substitution T C missense_variant L86P 257T>C MALY-DE 20 11903335 11903335 single base substitution T C synonymous_variant ?136 MALY-DE 20 11903510 11903510 single base substitution T C 3_prime_UTR_variant MALY-DE 20 11903510 11903510 single base substitution T C downstream_gene_variant MALY-DE 20 11903510 11903510 single base substitution T C exon_variant MALY-DE 20 11903510 11903510 single base substitution T C synonymous_variant A194A 582T>C MALY-DE 20 11903510 11903510 single base substitution T C synonymous_variant A255A 765T>C MALY-DE 20 11905533 11905533 single base substitution T G 3_prime_UTR_variant MALY-DE 20 11905533 11905533 single base substitution T G downstream_gene_variant MALY-DE 20 11908741 11908741 single base substitution G A downstream_gene_variant MALY-DE 20 11909015 11909015 single base substitution T A downstream_gene_variant MALY-DE 20 11909993 11909993 single base substitution A T downstream_gene_variant MALY-DE 20 11910799 11910799 single base substitution C T downstream_gene_variant MALY-DE 20 11911464 11911464 insertion of <=200bp - G downstream_gene_variant MALY-DE 20 11912177 11912177 single base substitution A C downstream_gene_variant MELA-AU 20 11866495 11866495 single base substitution C T upstream_gene_variant MELA-AU 20 11866618 11866618 single base substitution G A upstream_gene_variant MELA-AU 20 11866665 11866665 single base substitution T A upstream_gene_variant MELA-AU 20 11866878 11866878 single base substitution A G upstream_gene_variant MELA-AU 20 11867873 11867873 single base substitution G A upstream_gene_variant MELA-AU 20 11868014 11868014 single base substitution C T upstream_gene_variant MELA-AU 20 11868108 11868108 single base substitution C T upstream_gene_variant MELA-AU 20 11868337 11868337 single base substitution C A upstream_gene_variant MELA-AU 20 11868677 11868677 single base substitution A G upstream_gene_variant MELA-AU 20 11868744 11868745 multiple base substitution (>=2bp and <=200bp) AA GG upstream_gene_variant MELA-AU 20 11868817 11868817 single base substitution G A upstream_gene_variant MELA-AU 20 11868880 11868880 single base substitution G A upstream_gene_variant MELA-AU 20 11869049 11869049 single base substitution G A upstream_gene_variant MELA-AU 20 11869333 11869333 single base substitution G A upstream_gene_variant MELA-AU 20 11869529 11869529 single base substitution G A upstream_gene_variant MELA-AU 20 11869670 11869670 single base substitution C T upstream_gene_variant MELA-AU 20 11869914 11869914 single base substitution G A upstream_gene_variant MELA-AU 20 11870478 11870478 single base substitution G A upstream_gene_variant MELA-AU 20 11870598 11870598 single base substitution A G upstream_gene_variant MELA-AU 20 11870634 11870634 single base substitution A T upstream_gene_variant MELA-AU 20 11870967 11870967 single base substitution C G upstream_gene_variant MELA-AU 20 11871350 11871350 single base substitution C G upstream_gene_variant MELA-AU 20 11873028 11873028 single base substitution C T intron_variant MELA-AU 20 11873028 11873028 single base substitution C T upstream_gene_variant MELA-AU 20 11873817 11873817 single base substitution A C intron_variant MELA-AU 20 11874350 11874350 single base substitution C T intron_variant MELA-AU 20 11874569 11874569 single base substitution C T intron_variant MELA-AU 20 11875531 11875531 single base substitution T C intron_variant MELA-AU 20 11875637 11875637 single base substitution C T intron_variant MELA-AU 20 11875767 11875767 single base substitution T G intron_variant MELA-AU 20 11876109 11876109 single base substitution C T intron_variant MELA-AU 20 11876254 11876254 single base substitution C T intron_variant MELA-AU 20 11876771 11876771 single base substitution C T intron_variant MELA-AU 20 11876904 11876904 single base substitution G A intron_variant MELA-AU 20 11877446 11877446 single base substitution C T intron_variant MELA-AU 20 11878192 11878192 single base substitution C T intron_variant MELA-AU 20 11878346 11878346 single base substitution C T intron_variant MELA-AU 20 11878452 11878452 single base substitution C T intron_variant MELA-AU 20 11878555 11878555 single base substitution C T intron_variant MELA-AU 20 11879322 11879322 single base substitution T G intron_variant MELA-AU 20 11879465 11879465 single base substitution T G intron_variant MELA-AU 20 11879528 11879528 single base substitution A G intron_variant MELA-AU 20 11879640 11879640 single base substitution G T intron_variant MELA-AU 20 11880105 11880105 single base substitution G A intron_variant MELA-AU 20 11880368 11880368 single base substitution C T intron_variant MELA-AU 20 11880572 11880572 single base substitution G A intron_variant MELA-AU 20 11881051 11881051 single base substitution C T intron_variant MELA-AU 20 11883349 11883349 single base substitution A T intron_variant MELA-AU 20 11883627 11883627 single base substitution C T intron_variant MELA-AU 20 11886943 11886943 single base substitution C T intron_variant MELA-AU 20 11887200 11887200 single base substitution C T intron_variant MELA-AU 20 11887747 11887747 single base substitution C T intron_variant MELA-AU 20 11888507 11888507 single base substitution C T intron_variant MELA-AU 20 11888628 11888628 single base substitution T C intron_variant MELA-AU 20 11889164 11889164 single base substitution C T intron_variant MELA-AU 20 11889645 11889645 single base substitution C T intron_variant MELA-AU 20 11889676 11889676 single base substitution A G intron_variant MELA-AU 20 11891109 11891109 single base substitution C T intron_variant MELA-AU 20 11891195 11891195 single base substitution T C intron_variant MELA-AU 20 11891456 11891456 single base substitution A G intron_variant MELA-AU 20 11892038 11892038 single base substitution C A intron_variant MELA-AU 20 11892909 11892909 single base substitution C T intron_variant MELA-AU 20 11893091 11893091 single base substitution C T intron_variant MELA-AU 20 11893600 11893600 deletion of <=200bp T - intron_variant MELA-AU 20 11893600 11893600 deletion of <=200bp T - upstream_gene_variant MELA-AU 20 11894364 11894364 single base substitution C T intron_variant MELA-AU 20 11894364 11894364 single base substitution C T upstream_gene_variant MELA-AU 20 11894501 11894501 single base substitution A T intron_variant MELA-AU 20 11894501 11894501 single base substitution A T upstream_gene_variant MELA-AU 20 11894774 11894774 single base substitution A G intron_variant MELA-AU 20 11894774 11894774 single base substitution A G upstream_gene_variant MELA-AU 20 11895051 11895052 multiple base substitution (>=2bp and <=200bp) TG GT intron_variant MELA-AU 20 11895051 11895052 multiple base substitution (>=2bp and <=200bp) TG GT upstream_gene_variant MELA-AU 20 11895263 11895263 insertion of <=200bp - A intron_variant MELA-AU 20 11895263 11895263 insertion of <=200bp - A upstream_gene_variant MELA-AU 20 11895491 11895491 single base substitution C T intron_variant MELA-AU 20 11895491 11895491 single base substitution C T upstream_gene_variant MELA-AU 20 11895666 11895666 single base substitution C T intron_variant MELA-AU 20 11895666 11895666 single base substitution C T upstream_gene_variant MELA-AU 20 11895813 11895813 single base substitution T A intron_variant MELA-AU 20 11895813 11895813 single base substitution T A upstream_gene_variant MELA-AU 20 11895938 11895938 single base substitution C T intron_variant MELA-AU 20 11895938 11895938 single base substitution C T upstream_gene_variant MELA-AU 20 11896507 11896507 single base substitution T C intron_variant MELA-AU 20 11896507 11896507 single base substitution T C upstream_gene_variant MELA-AU 20 11897722 11897722 single base substitution T A intron_variant MELA-AU 20 11897722 11897722 single base substitution T A upstream_gene_variant MELA-AU 20 11898311 11898311 single base substitution C T intron_variant MELA-AU 20 11898311 11898311 single base substitution C T upstream_gene_variant MELA-AU 20 11898657 11898657 single base substitution C T 5_prime_UTR_variant MELA-AU 20 11898657 11898657 single base substitution C T intron_variant MELA-AU 20 11898657 11898657 single base substitution C T splice_region_variant MELA-AU 20 11898657 11898657 single base substitution C T upstream_gene_variant MELA-AU 20 11899881 11899881 single base substitution C T downstream_gene_variant MELA-AU 20 11899881 11899881 single base substitution C T intron_variant MELA-AU 20 11899881 11899881 single base substitution C T upstream_gene_variant MELA-AU 20 11900055 11900055 single base substitution G T downstream_gene_variant MELA-AU 20 11900055 11900055 single base substitution G T exon_variant MELA-AU 20 11900055 11900055 single base substitution G T intron_variant MELA-AU 20 11900055 11900055 single base substitution G T upstream_gene_variant MELA-AU 20 11900347 11900347 single base substitution G A downstream_gene_variant MELA-AU 20 11900347 11900347 single base substitution G A exon_variant MELA-AU 20 11900347 11900347 single base substitution G A intron_variant MELA-AU 20 11900347 11900347 single base substitution G A upstream_gene_variant MELA-AU 20 11901562 11901562 single base substitution C T downstream_gene_variant MELA-AU 20 11901562 11901562 single base substitution C T intron_variant MELA-AU 20 11901562 11901562 single base substitution C T upstream_gene_variant MELA-AU 20 11902296 11902296 single base substitution C T downstream_gene_variant MELA-AU 20 11902296 11902296 single base substitution C T exon_variant MELA-AU 20 11902296 11902296 single base substitution C T intron_variant MELA-AU 20 11902724 11902727 deletion of <=200bp AAAT - downstream_gene_variant MELA-AU 20 11902724 11902727 deletion of <=200bp AAAT - intron_variant MELA-AU 20 11902888 11902888 single base substitution T C downstream_gene_variant MELA-AU 20 11902888 11902888 single base substitution T C intron_variant MELA-AU 20 11902962 11902962 single base substitution T G downstream_gene_variant MELA-AU 20 11902962 11902962 single base substitution T G intron_variant MELA-AU 20 11902963 11902963 single base substitution G T downstream_gene_variant MELA-AU 20 11902963 11902963 single base substitution G T intron_variant MELA-AU 20 11902965 11902965 single base substitution T A downstream_gene_variant MELA-AU 20 11902965 11902965 single base substitution T A intron_variant MELA-AU 20 11903705 11903705 single base substitution C T downstream_gene_variant MELA-AU 20 11903705 11903705 single base substitution C T exon_variant MELA-AU 20 11903705 11903705 single base substitution C T synonymous_variant I259I 777C>T MELA-AU 20 11903705 11903705 single base substitution C T synonymous_variant I320I 960C>T MELA-AU 20 11904652 11904652 single base substitution C T 3_prime_UTR_variant MELA-AU 20 11904652 11904652 single base substitution C T downstream_gene_variant MELA-AU 20 11904728 11904728 single base substitution C T 3_prime_UTR_variant MELA-AU 20 11904728 11904728 single base substitution C T downstream_gene_variant MELA-AU 20 11905022 11905022 single base substitution C T 3_prime_UTR_variant MELA-AU 20 11905022 11905022 single base substitution C T downstream_gene_variant MELA-AU 20 11905108 11905108 single base substitution G T 3_prime_UTR_variant MELA-AU 20 11905108 11905108 single base substitution G T downstream_gene_variant MELA-AU 20 11905570 11905570 single base substitution C T 3_prime_UTR_variant MELA-AU 20 11905570 11905570 single base substitution C T downstream_gene_variant MELA-AU 20 11905835 11905835 single base substitution T C 3_prime_UTR_variant MELA-AU 20 11905835 11905835 single base substitution T C downstream_gene_variant MELA-AU 20 11905910 11905910 single base substitution C T 3_prime_UTR_variant MELA-AU 20 11905910 11905910 single base substitution C T downstream_gene_variant MELA-AU 20 11907293 11907293 single base substitution C T downstream_gene_variant MELA-AU 20 11907314 11907314 single base substitution C T downstream_gene_variant MELA-AU 20 11907732 11907732 single base substitution A G downstream_gene_variant MELA-AU 20 11907986 11907986 single base substitution C T downstream_gene_variant MELA-AU 20 11908471 11908471 single base substitution G A downstream_gene_variant MELA-AU 20 11908680 11908680 single base substitution C T downstream_gene_variant MELA-AU 20 11908754 11908754 single base substitution C T downstream_gene_variant MELA-AU 20 11908761 11908761 single base substitution T G downstream_gene_variant MELA-AU 20 11909164 11909164 single base substitution A G downstream_gene_variant MELA-AU 20 11909229 11909229 single base substitution C T downstream_gene_variant MELA-AU 20 11909761 11909761 single base substitution A T downstream_gene_variant MELA-AU 20 11910196 11910196 single base substitution C T downstream_gene_variant MELA-AU 20 11911246 11911246 single base substitution C T downstream_gene_variant MELA-AU 20 11912170 11912170 single base substitution T A downstream_gene_variant OV-AU 20 11867976 11867976 single base substitution C T upstream_gene_variant OV-AU 20 11868285 11868285 single base substitution A G upstream_gene_variant OV-AU 20 11876718 11876718 single base substitution G A intron_variant OV-AU 20 11893582 11893582 single base substitution C T intron_variant OV-AU 20 11893582 11893582 single base substitution C T upstream_gene_variant OV-AU 20 11897330 11897330 single base substitution C G intron_variant OV-AU 20 11897330 11897330 single base substitution C G upstream_gene_variant OV-AU 20 11899946 11899946 single base substitution G A downstream_gene_variant OV-AU 20 11899946 11899946 single base substitution G A exon_variant OV-AU 20 11899946 11899946 single base substitution G A intron_variant OV-AU 20 11899946 11899946 single base substitution G A upstream_gene_variant OV-AU 20 11899995 11899995 single base substitution C G downstream_gene_variant OV-AU 20 11899995 11899995 single base substitution C G exon_variant OV-AU 20 11899995 11899995 single base substitution C G intron_variant OV-AU 20 11899995 11899995 single base substitution C G upstream_gene_variant OV-AU 20 11906009 11906009 single base substitution C T 3_prime_UTR_variant OV-AU 20 11906009 11906009 single base substitution C T downstream_gene_variant OV-US 20 11903398 11903398 single base substitution C G 3_prime_UTR_variant OV-US 20 11903398 11903398 single base substitution C G downstream_gene_variant OV-US 20 11903398 11903398 single base substitution C G exon_variant OV-US 20 11903398 11903398 single base substitution C G missense_variant T107S 320C>G OV-US 20 11903398 11903398 single base substitution C G missense_variant T157S 470C>G OV-US 20 11903398 11903398 single base substitution C G missense_variant T218S 653C>G OV-US 20 11904279 11904279 single base substitution G A downstream_gene_variant OV-US 20 11904279 11904279 single base substitution G A missense_variant G451R 1351G>A OV-US 20 11904279 11904279 single base substitution G A missense_variant G512R 1534G>A PACA-AU 20 11869245 11869245 single base substitution T C upstream_gene_variant PACA-AU 20 11876364 11876364 single base substitution C G intron_variant PACA-AU 20 11878282 11878282 single base substitution A G intron_variant PACA-AU 20 11887394 11887394 single base substitution A G intron_variant PACA-AU 20 11889380 11889380 single base substitution C A intron_variant PACA-AU 20 11895286 11895286 single base substitution A T intron_variant PACA-AU 20 11895286 11895286 single base substitution A T upstream_gene_variant PACA-AU 20 11896684 11896684 insertion of <=200bp - T intron_variant PACA-AU 20 11896684 11896684 insertion of <=200bp - T upstream_gene_variant PACA-AU 20 11899339 11899339 single base substitution T G downstream_gene_variant PACA-AU 20 11899339 11899339 single base substitution T G intron_variant PACA-AU 20 11899339 11899339 single base substitution T G upstream_gene_variant PACA-AU 20 11903819 11903819 single base substitution T C downstream_gene_variant PACA-AU 20 11903819 11903819 single base substitution T C synonymous_variant P297P 891T>C PACA-AU 20 11903819 11903819 single base substitution T C synonymous_variant P358P 1074T>C PACA-AU 20 11909421 11909421 single base substitution T C downstream_gene_variant PACA-AU 20 11909473 11909473 single base substitution T G downstream_gene_variant PACA-AU 20 11910413 11910413 single base substitution G A downstream_gene_variant PACA-CA 20 11875158 11875158 deletion of <=200bp T - intron_variant PACA-CA 20 11878864 11878864 single base substitution A G intron_variant PACA-CA 20 11881505 11881505 single base substitution G A intron_variant PACA-CA 20 11882039 11882039 single base substitution T C intron_variant PACA-CA 20 11883590 11883590 deletion of <=200bp T - intron_variant PACA-CA 20 11885638 11885638 single base substitution A G intron_variant PACA-CA 20 11886702 11886702 single base substitution C T intron_variant PACA-CA 20 11891612 11891612 single base substitution T C intron_variant PACA-CA 20 11894147 11894147 single base substitution A T intron_variant PACA-CA 20 11894147 11894147 single base substitution A T upstream_gene_variant PACA-CA 20 11905103 11905103 single base substitution A G 3_prime_UTR_variant PACA-CA 20 11905103 11905103 single base substitution A G downstream_gene_variant PACA-CA 20 11906392 11906406 deletion of <=200bp ATTGCATCCTATCAG - 3_prime_UTR_variant PACA-CA 20 11906392 11906406 deletion of <=200bp ATTGCATCCTATCAG - downstream_gene_variant PACA-CA 20 11906419 11906434 deletion of <=200bp GGTGTGATAGTCTTCA - 3_prime_UTR_variant PACA-CA 20 11906419 11906434 deletion of <=200bp GGTGTGATAGTCTTCA - downstream_gene_variant PAEN-AU 20 11887650 11887650 single base substitution C T intron_variant PAEN-AU 20 11909340 11909340 single base substitution G A downstream_gene_variant PBCA-DE 20 11867965 11867965 single base substitution T C upstream_gene_variant PBCA-DE 20 11871344 11871344 deletion of <=200bp T - upstream_gene_variant PBCA-DE 20 11875335 11875335 single base substitution G A intron_variant PBCA-DE 20 11876672 11876672 single base substitution T A intron_variant PRAD-CA 20 11874250 11874250 single base substitution A G intron_variant PRAD-CA 20 11881721 11881721 single base substitution A T intron_variant PRAD-CA 20 11893058 11893058 single base substitution G T intron_variant PRAD-CA 20 11893344 11893344 single base substitution T A intron_variant PRAD-UK 20 11868076 11868076 single base substitution A T upstream_gene_variant PRAD-UK 20 11872590 11872590 single base substitution C G intron_variant PRAD-UK 20 11872590 11872590 single base substitution C G upstream_gene_variant PRAD-UK 20 11876653 11876653 single base substitution G A intron_variant PRAD-UK 20 11881505 11881505 single base substitution G A intron_variant PRAD-UK 20 11890909 11890909 single base substitution A T intron_variant PRAD-UK 20 11890943 11890943 single base substitution T A intron_variant PRAD-UK 20 11895727 11895727 single base substitution A G intron_variant PRAD-UK 20 11895727 11895727 single base substitution A G upstream_gene_variant PRAD-UK 20 11902743 11902743 single base substitution T C downstream_gene_variant PRAD-UK 20 11902743 11902743 single base substitution T C intron_variant PRAD-UK 20 11903535 11903535 single base substitution A G 3_prime_UTR_variant PRAD-UK 20 11903535 11903535 single base substitution A G downstream_gene_variant PRAD-UK 20 11903535 11903535 single base substitution A G exon_variant PRAD-UK 20 11903535 11903535 single base substitution A G missense_variant I203V 607A>G PRAD-UK 20 11903535 11903535 single base substitution A G missense_variant I264V 790A>G PRAD-UK 20 11903760 11903760 single base substitution G A downstream_gene_variant PRAD-UK 20 11903760 11903760 single base substitution G A exon_variant PRAD-UK 20 11903760 11903760 single base substitution G A missense_variant V278I 832G>A PRAD-UK 20 11903760 11903760 single base substitution G A missense_variant V339I 1015G>A RECA-EU 20 11870452 11870452 single base substitution T A upstream_gene_variant RECA-EU 20 11872370 11872370 single base substitution C G intron_variant RECA-EU 20 11872370 11872370 single base substitution C G upstream_gene_variant RECA-EU 20 11879043 11879043 single base substitution A T intron_variant RECA-EU 20 11879764 11879764 single base substitution C G intron_variant RECA-EU 20 11894423 11894423 single base substitution A T intron_variant RECA-EU 20 11894423 11894423 single base substitution A T upstream_gene_variant RECA-EU 20 11899357 11899357 single base substitution A G downstream_gene_variant RECA-EU 20 11899357 11899357 single base substitution A G intron_variant RECA-EU 20 11899357 11899357 single base substitution A G upstream_gene_variant RECA-EU 20 11899842 11899842 single base substitution G T downstream_gene_variant RECA-EU 20 11899842 11899842 single base substitution G T intron_variant RECA-EU 20 11899842 11899842 single base substitution G T upstream_gene_variant RECA-EU 20 11899947 11899947 single base substitution G A downstream_gene_variant RECA-EU 20 11899947 11899947 single base substitution G A exon_variant RECA-EU 20 11899947 11899947 single base substitution G A intron_variant RECA-EU 20 11899947 11899947 single base substitution G A upstream_gene_variant RECA-EU 20 11901978 11901978 single base substitution C T downstream_gene_variant RECA-EU 20 11901978 11901978 single base substitution C T intron_variant RECA-EU 20 11901978 11901978 single base substitution C T upstream_gene_variant RECA-EU 20 11902473 11902473 single base substitution G C downstream_gene_variant RECA-EU 20 11902473 11902473 single base substitution G C intron_variant SKCA-BR 20 11871837 11871837 single base substitution T G intron_variant SKCA-BR 20 11871837 11871837 single base substitution T G upstream_gene_variant SKCA-BR 20 11878608 11878608 single base substitution C T intron_variant SKCA-BR 20 11879193 11879193 single base substitution C T intron_variant SKCA-BR 20 11888988 11888988 single base substitution A T intron_variant SKCA-BR 20 11890471 11890471 single base substitution T A intron_variant SKCA-BR 20 11891793 11891794 deletion of <=200bp GA - intron_variant SKCA-BR 20 11892895 11892895 single base substitution T G intron_variant SKCA-BR 20 11897415 11897415 single base substitution A G intron_variant SKCA-BR 20 11897415 11897415 single base substitution A G upstream_gene_variant SKCA-BR 20 11897818 11897828 deletion of <=200bp TTAGTGAATTA - intron_variant SKCA-BR 20 11897818 11897828 deletion of <=200bp TTAGTGAATTA - upstream_gene_variant SKCA-BR 20 11900450 11900450 single base substitution G C 3_prime_UTR_variant SKCA-BR 20 11900450 11900450 single base substitution G C downstream_gene_variant SKCA-BR 20 11900450 11900450 single base substitution G C exon_variant SKCA-BR 20 11900450 11900450 single base substitution G C missense_variant D107H 319G>C SKCA-BR 20 11900450 11900450 single base substitution G C missense_variant D168H 502G>C SKCA-BR 20 11900450 11900450 single base substitution G C missense_variant D57H 169G>C SKCA-BR 20 11900450 11900450 single base substitution G C upstream_gene_variant SKCA-BR 20 11902563 11902563 single base substitution C T downstream_gene_variant SKCA-BR 20 11902563 11902563 single base substitution C T intron_variant SKCA-BR 20 11902862 11902862 single base substitution A G downstream_gene_variant SKCA-BR 20 11902862 11902862 single base substitution A G intron_variant SKCA-BR 20 11904592 11904592 single base substitution G A 3_prime_UTR_variant SKCA-BR 20 11904592 11904592 single base substitution G A downstream_gene_variant SKCA-BR 20 11910554 11910554 single base substitution C T downstream_gene_variant SKCM-US 20 11898985 11898985 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant SKCM-US 20 11898985 11898985 single base substitution C T missense_variant T21M 62C>T SKCM-US 20 11898985 11898985 single base substitution C T upstream_gene_variant SKCM-US 20 11903450 11903450 single base substitution C T 3_prime_UTR_variant SKCM-US 20 11903450 11903450 single base substitution C T downstream_gene_variant SKCM-US 20 11903450 11903450 single base substitution C T exon_variant SKCM-US 20 11903450 11903450 single base substitution C T synonymous_variant F124F 372C>T SKCM-US 20 11903450 11903450 single base substitution C T synonymous_variant F174F 522C>T SKCM-US 20 11903450 11903450 single base substitution C T synonymous_variant F235F 705C>T SKCM-US 20 11903564 11903564 single base substitution C T 3_prime_UTR_variant SKCM-US 20 11903564 11903564 single base substitution C T downstream_gene_variant SKCM-US 20 11903564 11903564 single base substitution C T exon_variant SKCM-US 20 11903564 11903564 single base substitution C T synonymous_variant L212L 636C>T SKCM-US 20 11903564 11903564 single base substitution C T synonymous_variant L273L 819C>T SKCM-US 20 11903859 11903859 single base substitution C T downstream_gene_variant SKCM-US 20 11903859 11903859 single base substitution C T missense_variant P311S 931C>T SKCM-US 20 11903859 11903859 single base substitution C T missense_variant P372S 1114C>T SKCM-US 20 11903895 11903895 single base substitution C G downstream_gene_variant SKCM-US 20 11903895 11903895 single base substitution C G missense_variant R323G 967C>G SKCM-US 20 11903895 11903895 single base substitution C G missense_variant R384G 1150C>G SKCM-US 20 11903963 11903963 single base substitution C T downstream_gene_variant SKCM-US 20 11903963 11903963 single base substitution C T synonymous_variant F345F 1035C>T SKCM-US 20 11903963 11903963 single base substitution C T synonymous_variant F406F 1218C>T SKCM-US 20 11903989 11903989 single base substitution C T downstream_gene_variant SKCM-US 20 11903989 11903989 single base substitution C T missense_variant S354F 1061C>T SKCM-US 20 11903989 11903989 single base substitution C T missense_variant S415F 1244C>T STAD-US 20 11898962 11898964 deletion of <=200bp CTT - inframe_deletion TF13T STAD-US 20 11898962 11898964 deletion of <=200bp CTT - intron_variant STAD-US 20 11898962 11898964 deletion of <=200bp CTT - upstream_gene_variant STAD-US 20 11898985 11898985 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant STAD-US 20 11898985 11898985 single base substitution C T missense_variant T21M 62C>T STAD-US 20 11898985 11898985 single base substitution C T upstream_gene_variant STAD-US 20 11899095 11899095 insertion of <=200bp - A 5_prime_UTR_variant STAD-US 20 11899095 11899095 insertion of <=200bp - A frameshift_variant K58K? STAD-US 20 11899095 11899095 insertion of <=200bp - A upstream_gene_variant STAD-US 20 11899210 11899210 deletion of <=200bp C - downstream_gene_variant STAD-US 20 11899210 11899210 deletion of <=200bp C - exon_variant STAD-US 20 11899210 11899210 deletion of <=200bp C - frameshift_variant A35 STAD-US 20 11899210 11899210 deletion of <=200bp C - frameshift_variant A96 STAD-US 20 11899210 11899210 deletion of <=200bp C - upstream_gene_variant STAD-US 20 11899738 11899738 single base substitution G T 5_prime_UTR_variant STAD-US 20 11899738 11899738 single base substitution G T downstream_gene_variant STAD-US 20 11899738 11899738 single base substitution G T intron_variant STAD-US 20 11899738 11899738 single base substitution G T missense_variant A111S 331G>T STAD-US 20 11899738 11899738 single base substitution G T missense_variant A50S 148G>T STAD-US 20 11899738 11899738 single base substitution G T upstream_gene_variant STAD-US 20 11900476 11900476 single base substitution T A 3_prime_UTR_variant STAD-US 20 11900476 11900476 single base substitution T A downstream_gene_variant STAD-US 20 11900476 11900476 single base substitution T A exon_variant STAD-US 20 11900476 11900476 single base substitution T A synonymous_variant A115A 345T>A STAD-US 20 11900476 11900476 single base substitution T A synonymous_variant A176A 528T>A STAD-US 20 11900476 11900476 single base substitution T A synonymous_variant A65A 195T>A STAD-US 20 11900476 11900476 single base substitution T A upstream_gene_variant STAD-US 20 11903503 11903503 single base substitution A G 3_prime_UTR_variant STAD-US 20 11903503 11903503 single base substitution A G downstream_gene_variant STAD-US 20 11903503 11903503 single base substitution A G exon_variant STAD-US 20 11903503 11903503 single base substitution A G missense_variant E192G 575A>G STAD-US 20 11903503 11903503 single base substitution A G missense_variant E253G 758A>G STAD-US 20 11903867 11903867 single base substitution C T downstream_gene_variant STAD-US 20 11903867 11903867 single base substitution C T synonymous_variant R313R 939C>T STAD-US 20 11903867 11903867 single base substitution C T synonymous_variant R374R 1122C>T STAD-US 20 11904244 11904244 single base substitution G A downstream_gene_variant STAD-US 20 11904244 11904244 single base substitution G A missense_variant C439Y 1316G>A STAD-US 20 11904244 11904244 single base substitution G A missense_variant C500Y 1499G>A THCA-US 20 11904148 11904148 single base substitution C T downstream_gene_variant THCA-US 20 11904148 11904148 single base substitution C T missense_variant T407I 1220C>T THCA-US 20 11904148 11904148 single base substitution C T missense_variant T468I 1403C>T UCEC-US 20 11898974 11898974 single base substitution G A intron_variant UCEC-US 20 11898974 11898974 single base substitution G A missense_variant M17I 51G>A UCEC-US 20 11898974 11898974 single base substitution G A splice_region_variant UCEC-US 20 11898974 11898974 single base substitution G A upstream_gene_variant UCEC-US 20 11899004 11899004 single base substitution G T 5_prime_UTR_variant UCEC-US 20 11899004 11899004 single base substitution G T missense_variant K27N 81G>T UCEC-US 20 11899004 11899004 single base substitution G T upstream_gene_variant UCEC-US 20 11899025 11899025 single base substitution T C 5_prime_UTR_variant UCEC-US 20 11899025 11899025 single base substitution T C synonymous_variant N34N 102T>C UCEC-US 20 11899025 11899025 single base substitution T C upstream_gene_variant UCEC-US 20 11900441 11900441 single base substitution C T 3_prime_UTR_variant UCEC-US 20 11900441 11900441 single base substitution C T downstream_gene_variant UCEC-US 20 11900441 11900441 single base substitution C T exon_variant UCEC-US 20 11900441 11900441 single base substitution C T missense_variant R104C 310C>T UCEC-US 20 11900441 11900441 single base substitution C T missense_variant R165C 493C>T UCEC-US 20 11900441 11900441 single base substitution C T missense_variant R54C 160C>T UCEC-US 20 11900441 11900441 single base substitution C T upstream_gene_variant UCEC-US 20 11900456 11900456 single base substitution G A 3_prime_UTR_variant UCEC-US 20 11900456 11900456 single base substitution G A downstream_gene_variant UCEC-US 20 11900456 11900456 single base substitution G A exon_variant UCEC-US 20 11900456 11900456 single base substitution G A missense_variant E109K 325G>A UCEC-US 20 11900456 11900456 single base substitution G A missense_variant E170K 508G>A UCEC-US 20 11900456 11900456 single base substitution G A missense_variant E59K 175G>A UCEC-US 20 11900456 11900456 single base substitution G A upstream_gene_variant UCEC-US 20 11903310 11903310 single base substitution G A 3_prime_UTR_variant UCEC-US 20 11903310 11903310 single base substitution G A downstream_gene_variant UCEC-US 20 11903310 11903310 single base substitution G A exon_variant UCEC-US 20 11903310 11903310 single base substitution G A missense_variant A128T 382G>A UCEC-US 20 11903310 11903310 single base substitution G A missense_variant A189T 565G>A UCEC-US 20 11903310 11903310 single base substitution G A missense_variant A78T 232G>A UCEC-US 20 11903390 11903390 single base substitution C A 3_prime_UTR_variant UCEC-US 20 11903390 11903390 single base substitution C A downstream_gene_variant UCEC-US 20 11903390 11903390 single base substitution C A exon_variant UCEC-US 20 11903390 11903390 single base substitution C A missense_variant F104L 312C>A UCEC-US 20 11903390 11903390 single base substitution C A missense_variant F154L 462C>A UCEC-US 20 11903390 11903390 single base substitution C A missense_variant F215L 645C>A UCEC-US 20 11903532 11903532 single base substitution G A 3_prime_UTR_variant UCEC-US 20 11903532 11903532 single base substitution G A downstream_gene_variant UCEC-US 20 11903532 11903532 single base substitution G A exon_variant UCEC-US 20 11903532 11903532 single base substitution G A missense_variant D202N 604G>A UCEC-US 20 11903532 11903532 single base substitution G A missense_variant D263N 787G>A UCEC-US 20 11903546 11903546 single base substitution G A 3_prime_UTR_variant UCEC-US 20 11903546 11903546 single base substitution G A downstream_gene_variant UCEC-US 20 11903546 11903546 single base substitution G A exon_variant UCEC-US 20 11903546 11903546 single base substitution G A synonymous_variant Q206Q 618G>A UCEC-US 20 11903546 11903546 single base substitution G A synonymous_variant Q267Q 801G>A UCEC-US 20 11903589 11903589 single base substitution G T 3_prime_UTR_variant UCEC-US 20 11903589 11903589 single base substitution G T downstream_gene_variant UCEC-US 20 11903589 11903589 single base substitution G T exon_variant UCEC-US 20 11903589 11903589 single base substitution G T stop_gained E221* 661G>T UCEC-US 20 11903589 11903589 single base substitution G T stop_gained E282* 844G>T UCEC-US 20 11903664 11903664 single base substitution G T downstream_gene_variant UCEC-US 20 11903664 11903664 single base substitution G T exon_variant UCEC-US 20 11903664 11903664 single base substitution G T stop_gained E246* 736G>T UCEC-US 20 11903664 11903664 single base substitution G T stop_gained E307* 919G>T UCEC-US 20 11903722 11903722 single base substitution C T downstream_gene_variant UCEC-US 20 11903722 11903722 single base substitution C T exon_variant UCEC-US 20 11903722 11903722 single base substitution C T missense_variant A265V 794C>T UCEC-US 20 11903722 11903722 single base substitution C T missense_variant A326V 977C>T UCEC-US 20 11903729 11903729 single base substitution T C downstream_gene_variant UCEC-US 20 11903729 11903729 single base substitution T C exon_variant UCEC-US 20 11903729 11903729 single base substitution T C synonymous_variant D267D 801T>C UCEC-US 20 11903729 11903729 single base substitution T C synonymous_variant D328D 984T>C UCEC-US 20 11903745 11903745 single base substitution G A downstream_gene_variant UCEC-US 20 11903745 11903745 single base substitution G A exon_variant UCEC-US 20 11903745 11903745 single base substitution G A missense_variant A273T 817G>A UCEC-US 20 11903745 11903745 single base substitution G A missense_variant A334T 1000G>A UCEC-US 20 11903866 11903866 single base substitution G A downstream_gene_variant UCEC-US 20 11903866 11903866 single base substitution G A missense_variant R313H 938G>A UCEC-US 20 11903866 11903866 single base substitution G A missense_variant R374H 1121G>A UCEC-US 20 11903884 11903884 single base substitution C T downstream_gene_variant UCEC-US 20 11903884 11903884 single base substitution C T missense_variant S319L 956C>T UCEC-US 20 11903884 11903884 single base substitution C T missense_variant S380L 1139C>T UCEC-US 20 11903891 11903891 single base substitution C A downstream_gene_variant UCEC-US 20 11903891 11903891 single base substitution C A synonymous_variant A321A 963C>A UCEC-US 20 11903891 11903891 single base substitution C A synonymous_variant A382A 1146C>A UCEC-US 20 11903917 11903917 single base substitution G A downstream_gene_variant UCEC-US 20 11903917 11903917 single base substitution G A missense_variant R330H 989G>A UCEC-US 20 11903917 11903917 single base substitution G A missense_variant R391H 1172G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-D3-A5GN-06 COSM3544108 c.1244C>T p.S415F Substitution - Missense 20:11923341-11923341 + DLBCL649 COSM362117 c.494G>A p.R165H Substitution - Missense 20:11919794-11919794 + TCGA-04-1347-01 COSM73869 c.653C>G p.T218S Substitution - Missense 20:11922750-11922750 + TCGA-BH-A1EN-01 COSM1483428 c.1359A>G p.V453V Substitution - coding silent 20:11923456-11923456 + SS6003309 COSM3414138 c.824G>A p.R275K Substitution - Missense 20:11922921-11922921 + HCC30 COSM1615322 c.186G>T p.M62I Substitution - Missense 20:11918461-11918461 + HCC30T COSM1615322 c.186G>T p.M62I Substitution - Missense 20:11918461-11918461 + 0029_CRUK_PC_0029_T1_DNA COSM5421146 c.790A>G p.I264V Substitution - Missense 20:11922887-11922887 + TCGA-AP-A059-01 COSM1024508 c.645C>A p.F215L Substitution - Missense 20:11922742-11922742 + T47 COSM1177958 c.1353T>C p.F451F Substitution - coding silent 20:11923450-11923450 + TCGA-B5-A11E-01 COSM1024510 c.787G>A p.D263N Substitution - Missense 20:11922884-11922884 + ESCC_28 COSM5627339 c.853G>T p.V285F Substitution - Missense 20:11922950-11922950 + 2250168 COSM5029729 c.148T>A p.Y50N Substitution - Missense 20:11918423-11918423 + T3024 COSM4666343 c.1414A>G p.I472V Substitution - Missense 20:11923511-11923511 + LIM2551 COSM1024519 c.1146C>A p.A382A Substitution - coding silent 20:11923243-11923243 + CRC-06T COSM5456805 c.1156A>G p.N386D Substitution - Missense 20:11923253-11923253 + TCGA-A5-A0G9-01 COSM1024517 c.1015G>T p.V339L Substitution - Missense 20:11923112-11923112 + TCGA-A6-5661-01 COSM1410369 c.1248C>A p.S416R Substitution - Missense 20:11923345-11923345 + CLL040 COSM443454 c.452C>T p.A151V Substitution - Missense 20:11919752-11919752 + 8012207 COSM1168946 c.1074T>C p.P358P Substitution - coding silent 20:11923171-11923171 + TCGA-AD-6895-01 COSM1410360 c.471T>A p.L157L Substitution - coding silent 20:11919771-11919771 + TCGA-66-2773-01 COSM722671 c.400C>T p.R134W Substitution - Missense 20:11919159-11919159 + CSCC-16-T COSM3544108 c.1244C>T p.S415F Substitution - Missense 20:11923341-11923341 + TCGA-AZ-6598-01 COSM1410367 c.1163G>T p.W388L Substitution - Missense 20:11923260-11923260 + BD135T COSM5516914 c.39_41delCTT p.F15delF Deletion - In frame 20:11918314-11918316 + SNUH_G76_S1 COSM4001818 c.1038C>T p.N346N Substitution - coding silent 20:11923135-11923135 + Pat_59_B COSM5857402 c.301G>A p.G101S Substitution - Missense 20:11918576-11918576 + L07 COSM5368798 c.693delG p.S232fs*9 Deletion - Frameshift 20:11922790-11922790 + TCGA-CG-4477-01 COSM4096646 c.528T>A p.A176A Substitution - coding silent 20:11919828-11919828 + S00841 COSM317057 c.452C>G p.A151G Substitution - Missense 20:11919752-11919752 + YUWAND COSM1713230 c.1349C>T p.T450I Substitution - Missense 20:11923446-11923446 + RK106_C01 COSM1632186 c.319A>G p.R107G Substitution - Missense 20:11918594-11918594 + C086 COSM3544107 c.1114C>T p.P372S Substitution - Missense 20:11923211-11923211 + TCGA-10-0935-01 COSM73870 c.1534G>A p.G512R Substitution - Missense 20:11923631-11923631 + TCGA-A8-A0A6-01 COSM3840406 c.103A>C p.T35P Substitution - Missense 20:11918378-11918378 + 12-P279 COSM2702888 c.1383C>T p.I461I Substitution - coding silent 20:11923480-11923480 + LUAD-CHTN-Z4716A COSM362117 c.494G>A p.R165H Substitution - Missense 20:11919794-11919794 + TCGA-BH-A18G-01 COSM3840409 c.1210A>G p.R404G Substitution - Missense 20:11923307-11923307 + SC_9076 COSM5554068 c.703T>A p.F235I Substitution - Missense 20:11922800-11922800 + TCGA-AZ-6598-01 COSM1410359 c.114C>T p.S38S Substitution - coding silent 20:11918389-11918389 + CSCC-20-T COSM443454 c.452C>T p.A151V Substitution - Missense 20:11919752-11919752 + TCGA-BS-A0UJ-01 COSM1024515 c.984T>C p.D328D Substitution - coding silent 20:11923081-11923081 + SW48 COSM2702889 c.1384G>C p.E462Q Substitution - Missense 20:11923481-11923481 + DLD1 COSM4624196 c.1129C>T p.R377C Substitution - Missense 20:11923226-11923226 + YUOTHO COSM5391562 c.820C>T p.R274C Substitution - Missense 20:11922917-11922917 + I2L-P19Ta-Tumor-Organoid COSM5365884 c.1165C>T p.R389C Substitution - Missense 20:11923262-11923262 + TCGA-EM-A3O3-01 COSM3371610 c.1403C>T p.T468I Substitution - Missense 20:11923500-11923500 + TCGA-BR-4280-01 COSM4096644 c.62C>T p.T21M Substitution - Missense 20:11918337-11918337 + PTC-7C COSM4134233 c.142G>C p.V48L Substitution - Missense 20:11918417-11918417 + tumor_4147968 COSM5946822 c.765T>C p.A255A Substitution - coding silent 20:11922862-11922862 + TCGA-FS-A4F9-06 COSM3544107 c.1114C>T p.P372S Substitution - Missense 20:11923211-11923211 + Pat_16_B COSM5857401 c.262C>T p.L88F Substitution - Missense 20:11918537-11918537 + Pat_26_A COSM5857400 c.105_107delCAG p.S40delS Deletion - In frame 20:11918380-11918382 + TCGA-A8-A0A6-01 COSM3840407 c.620A>C p.H207P Substitution - Missense 20:11922717-11922717 + TCGA-E2-A2P6-01 COSM3840408 c.660G>A p.L220L Substitution - coding silent 20:11922757-11922757 + sysucc-311T COSM5464863 c.487G>T p.E163* Substitution - Nonsense 20:11919787-11919787 + DLBCL998 COSM1580625 c.392G>A p.G131E Substitution - Missense 20:11919151-11919151 + TCGA-AP-A051-01 COSM1024516 c.1000G>A p.A334T Substitution - Missense 20:11923097-11923097 + S01512 COSM309555 c.1273A>G p.K425E Substitution - Missense 20:11923370-11923370 + TCGA-FP-A4BE-01 COSM4096647 c.758A>G p.E253G Substitution - Missense 20:11922855-11922855 + HCC17T COSM1615323 c.1103A>T p.K368M Substitution - Missense 20:11923200-11923200 + RW2982 COSM4649633 c.462C>T p.Y154Y Substitution - coding silent 20:11919762-11919762 + S00946 COSM309554 c.2T>C p.M1T Substitution - Missense 20:11918277-11918277 + C135 COSM4618017 c.311C>T p.P104L Substitution - Missense 20:11918586-11918586 + 2 COSM5731943 c.475G>A p.E159K Substitution - Missense 20:11919775-11919775 + TCGA-D9-A6E9-06 COSM4096644 c.62C>T p.T21M Substitution - Missense 20:11918337-11918337 + LIM2551 COSM4644268 c.303T>G p.G101G Substitution - coding silent 20:11918578-11918578 + Pat_05_A COSM5627339 c.853G>T p.V285F Substitution - Missense 20:11922950-11922950 + HCC063T COSM5812950 c.346A>T p.N116Y Substitution - Missense 20:11919105-11919105 + PD3987a COSM159430 c.634T>G p.C212G Substitution - Missense 20:11922731-11922731 + TCGA-AN-A046-01 COSM5833917 c.1077_1078insGC p.L360fs*5 Insertion - Frameshift 20:11923174-11923175 + Pat_16_A COSM5857401 c.262C>T p.L88F Substitution - Missense 20:11918537-11918537 + TCGA-EY-A1GS-01 COSM1024514 c.977C>T p.A326V Substitution - Missense 20:11923074-11923074 + TCGA-CM-4748-01 COSM3693370 c.1356C>T p.P452P Substitution - coding silent 20:11923453-11923453 + TCGA-AX-A0J0-01 COSM1024520 c.1172G>A p.R391H Substitution - Missense 20:11923269-11923269 + Z138 COSM1740642 c.920A>G p.E307G Substitution - Missense 20:11923017-11923017 + C086 COSM5527447 c.978C>T p.A326A Substitution - coding silent 20:11923075-11923075 + TCGA-BH-A1FH-01 COSM1483429 c.1560C>T p.F520F Substitution - coding silent 20:11923657-11923657 + TCGA-AP-A0LM-01 COSM1024501 c.51G>A p.M17I Substitution - Missense 20:11918326-11918326 + TCGA-AP-A0LM-01 COSM1024507 c.565G>A p.A189T Substitution - Missense 20:11922662-11922662 + LUAD-NYU284 COSM373038 c.81G>C p.K27N Substitution - Missense 20:11918356-11918356 + TCGA-EE-A181-06 COSM3544106 c.819C>T p.L273L Substitution - coding silent 20:11922916-11922916 + TCGA-AP-A0LT-01 COSM1024519 c.1146C>A p.A382A Substitution - coding silent 20:11923243-11923243 + TCGA-66-2757-01 COSM722670 c.678T>C p.C226C Substitution - coding silent 20:11922775-11922775 + SNUH_G10_S1 COSM4001818 c.1038C>T p.N346N Substitution - coding silent 20:11923135-11923135 + TCGA-AA-3510-01 COSM1410370 c.1296C>T p.G432G Substitution - coding silent 20:11923393-11923393 + Pat_59_B COSM5857403 c.934G>A p.V312I Substitution - Missense 20:11923031-11923031 + TCGA-AP-A056-01 COSM1024506 c.508G>A p.E170K Substitution - Missense 20:11919808-11919808 + LUAD-S01478 COSM404719 c.753G>T p.Q251H Substitution - Missense 20:11922850-11922850 + TCGA-CM-6162-01 COSM1410368 c.1171C>T p.R391C Substitution - Missense 20:11923268-11923268 + TCGA-22-5491-01 COSM722667 c.1121G>A p.R374H Substitution - Missense 20:11923218-11923218 + TCGA-BS-A0UV-01 COSM1024510 c.787G>A p.D263N Substitution - Missense 20:11922884-11922884 + KYSE-450 COSM2702872 c.530delT p.M177fs*2 Deletion - Frameshift 20:11919830-11919830 + TCGA-D1-A176-01 COSM1024504 c.283C>A p.P95T Substitution - Missense 20:11918558-11918558 + LUAD-S01306 COSM343574 c.677G>T p.C226F Substitution - Missense 20:11922774-11922774 + CSCC-44-T COSM4558644 c.775G>A p.E259K Substitution - Missense 20:11922872-11922872 + ME021T COSM225927 c.792T>G p.I264M Substitution - Missense 20:11922889-11922889 + TCGA-BS-A0UF-01 COSM1024513 c.919G>T p.E307* Substitution - Nonsense 20:11923016-11923016 + YULAN COSM1713229 c.616C>T p.P206S Substitution - Missense 20:11922713-11922713 + TCGA-AA-A00N-01 COSM274177 c.151G>A p.E51K Substitution - Missense 20:11918426-11918426 + ESO-717 COSM1242038 c.821G>A p.R274H Substitution - Missense 20:11922918-11922918 + 46M COSM5587308 c.615C>T p.V205V Substitution - coding silent 20:11922712-11922712 + HCC17 COSM1615323 c.1103A>T p.K368M Substitution - Missense 20:11923200-11923200 + PD11369a COSM5789940 c.47T>C p.L16S Substitution - Missense 20:11918322-11918322 + Pat_24_A COSM5857405 c.1460C>T p.T487I Substitution - Missense 20:11923557-11923557 + 587340 COSM1185036 c.524T>A p.L175H Substitution - Missense 20:11919824-11919824 + Br27P COSM39883 c.907G>A p.A303T Substitution - Missense 20:11923004-11923004 + HT115 COSM2702865 c.29A>C p.K10T Substitution - Missense 20:11918304-11918304 + TCGA-A5-A0GW-01 COSM1024509 c.786C>T p.C262C Substitution - coding silent 20:11922883-11922883 + CPCG0103-P5 COSM3396374 c.705C>A p.F235L Substitution - Missense 20:11922802-11922802 + TCGA-B5-A11Y-01 COSM1024503 c.102T>C p.N34N Substitution - coding silent 20:11918377-11918377 + TCGA-GF-A6C8-06 COSM3910858 c.1150C>G p.R384G Substitution - Missense 20:11923247-11923247 + ESO-107 COSM1246298 c.1400A>G p.Y467C Substitution - Missense 20:11923497-11923497 + TCGA-FW-A3R5-06 COSM3910859 c.1218C>T p.F406F Substitution - coding silent 20:11923315-11923315 + BD112T COSM5490891 c.982G>A p.D328N Substitution - Missense 20:11923079-11923079 + TCGA-AM-5820-01 COSM1410365 c.909G>A p.A303A Substitution - coding silent 20:11923006-11923006 + S00841 COSM317057 c.452C>G p.A151G Substitution - Missense 20:11919752-11919752 + Pat_73_A COSM5857404 c.1357G>A p.V453I Substitution - Missense 20:11923454-11923454 + T3049 COSM1024506 c.508G>A p.E170K Substitution - Missense 20:11919808-11919808 + PD4106a COSM159431 c.183G>A p.K61K Substitution - coding silent 20:11918458-11918458 + ESCC_135 COSM5642922 c.1199C>T p.A400V Substitution - Missense 20:11923296-11923296 + TCGA-BR-6452-01 COSM4096649 c.1499G>A p.C500Y Substitution - Missense 20:11923596-11923596 + SJHGG027_D COSM4969526 c.203C>G p.P68R Substitution - Missense 20:11918478-11918478 + MedB-1 COSM5620364 c.928C>A p.R310S Substitution - Missense 20:11923025-11923025 + DLBCL759 COSM1580626 c.431T>C p.V144A Substitution - Missense 20:11919731-11919731 + 2293759 COSM4606930 c.1495C>T p.Q499* Substitution - Nonsense 20:11923592-11923592 + TCGA-02-0055-01 COSM3404929 c.507C>G p.V169V Substitution - coding silent 20:11919807-11919807 + TCGA-FP-A4BE-01 COSM4096648 c.1122C>T p.R374R Substitution - coding silent 20:11923219-11923219 + TCGA-AZ-4315-01 COSM1410363 c.727C>T p.R243C Substitution - Missense 20:11922824-11922824 + TCGA-A8-A091-01 COSM443455 c.546T>C p.Y182Y Substitution - coding silent 20:11922643-11922643 + DLBCL891 COSM1580627 c.1063G>A p.A355T Substitution - Missense 20:11923160-11923160 + TCGA-CG-4477-01 COSM4096645 c.331G>T p.A111S Substitution - Missense 20:11919090-11919090 + TCGA-66-2757-01 COSM722668 c.679G>T p.V227L Substitution - Missense 20:11922776-11922776 + TCGA-02-0047-01 COSM2148982 c.152A>G p.E51G Substitution - Missense 20:11918427-11918427 + 134417 COSM324838 c.1285A>C p.K429Q Substitution - Missense 20:11923382-11923382 + TCGA-AP-A0LT-01 COSM1024511 c.801G>A p.Q267Q Substitution - coding silent 20:11922898-11922898 + S02245 COSM5678535 c.706G>T p.E236* Substitution - Nonsense 20:11922803-11922803 + TCGA-13-0792-01 COSM116366 c.908C>A p.A303E Substitution - Missense 20:11923005-11923005 + 479 COSM4439054 c.728G>A p.R243H Substitution - Missense 20:11922825-11922825 + TCGA-AX-A0J1-01 COSM722667 c.1121G>A p.R374H Substitution - Missense 20:11923218-11923218 + RK164_C01 COSM3701600 c.556A>G p.I186V Substitution - Missense 20:11922653-11922653 + S01512 COSM309555 c.1273A>G p.K425E Substitution - Missense 20:11923370-11923370 + TCGA-AP-A056-01 COSM1024512 c.844G>T p.E282* Substitution - Nonsense 20:11922941-11922941 + ATL023 COSM274177 c.151G>A p.E51K Substitution - Missense 20:11918426-11918426 + TCGA-AA-3663-01 COSM1410361 c.529A>G p.M177V Substitution - Missense 20:11919829-11919829 + I2L-P19Ta-Tumor-Biopsy COSM5365884 c.1165C>T p.R389C Substitution - Missense 20:11923262-11923262 + TCGA-AP-A059-01 COSM1024502 c.81G>T p.K27N Substitution - Missense 20:11918356-11918356 + TCGA-DA-A1HV-06 COSM2702876 c.705C>T p.F235F Substitution - coding silent 20:11922802-11922802 + TCGA-02-0047 COSM2148982 c.152A>G p.E51G Substitution - Missense 20:11918427-11918427 + ESO-118 COSM1246297 c.1329delC p.S444fs*28 Deletion - Frameshift 20:11923426-11923426 + TCGA-D1-A103-01 COSM1024505 c.493C>T p.R165C Substitution - Missense 20:11919793-11919793 + LS174T COSM4646014 c.1054T>C p.Y352H Substitution - Missense 20:11923151-11923151 + TCGA-18-3419-01 COSM722672 c.326G>T p.R109I Substitution - Missense 20:11918601-11918601 + TCGA-AO-A12F-01 COSM443454 c.452C>T p.A151V Substitution - Missense 20:11919752-11919752 + 587342 COSM1185037 c.1289G>A p.R430Q Substitution - Missense 20:11923386-11923386 + 9227_T COSM73870 c.1534G>A p.G512R Substitution - Missense 20:11923631-11923631 + ESO-0067 COSM73870 c.1534G>A p.G512R Substitution - Missense 20:11923631-11923631 + ESCC_151 COSM5645207 c.1404A>C p.T468T Substitution - coding silent 20:11923501-11923501 + T1844 COSM4666342 c.206G>A p.R69H Substitution - Missense 20:11918481-11918481 + TCGA-D1-A17Q-01 COSM1024518 c.1139C>T p.S380L Substitution - Missense 20:11923236-11923236 + 8033691 COSM1168946 c.1074T>C p.P358P Substitution - coding silent 20:11923171-11923171 + 0028_CRUK_PC_0028_T1_DNA COSM5421071 c.1015G>A p.V339I Substitution - Missense 20:11923112-11923112 + 2153 COSM5013557 c.1130G>A p.R377H Substitution - Missense 20:11923227-11923227 + LAU165 COSM234455 c.645C>T p.F215F Substitution - coding silent 20:11922742-11922742 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.709366 20p12.2

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.K429Q c.1285A>C 20 11904030 SCLC A G IntronicSNV . c.536+943A>G 20 11901427 CLL A G Missense p.E51G c.152A>G 20 11899075 GBM A G Missense p.K425E c.1273A>G 20 11904018 SCLC A G Missense p.R107G c.319A>G 20 11899242 HC A G Missense p.Y467C c.1400A>G 20 11904145 ESCA A G Synonymous p.V453V c.1359A>G 20 11904104 BRCA C A IntronicSNV . c.1-12799C>A 20 11886125 CLL C A Missense p.A303E c.908C>A 20 11903653 OV C A Missense p.S258Y c.773C>A 20 11903518 HNSC C A Synonymous p.A382A c.1146C>A 20 11903891 UCEC CC TT Missense p.R377C c.1128_1129delinsTT 20 11903873 CM C - Frameshift p.S444Qfs*28 c.1329delC 20 11904074 ESCA C G Missense p.A151G c.452C>G 20 11900400 SCLC C G Missense p.I181M c.543C>G 20 11903288 HNSC C G Missense p.T218S c.653C>G 20 11903398 OV C G Synonymous p.V169V c.507C>G 20 11900455 GBM C T Missense p.A151V c.452C>T 20 11900400 BRCA C T Missense p.A151V c.452C>T 20 11900400 CLL C T Missense p.A326V c.977C>T 20 11903722 UCEC C T Missense p.L175F c.523C>T 20 11900471 LUAD C T Missense p.R134W c.400C>T 20 11899807 LUSC C T Missense p.S75F c.224C>T 20 11899147 CM C T Missense p.T21M c.62C>T 20 11898985 STAD C T Missense p.T468I c.1403C>T 20 11904148 THCA C T Nonsense p.Q242* c.724C>T 20 11903469 LUAD C T Synonymous p.F215F c.645C>T 20 11903390 CM C T Synonymous p.F235F c.705C>T 20 11903450 CM C T Synonymous p.F520F c.1560C>T 20 11904305 BRCA C T Synonymous p.L273L c.819C>T 20 11903564 CM G A IntronicSNV . c.1-8631G>A 20 11890293 HC G A Missense p.A303T c.907G>A 20 11903652 GBM G A Missense p.E282K c.844G>A 20 11903589 LUAD G A Missense p.G512R c.1534G>A 20 11904279 ESCA G A Missense p.G512R c.1534G>A 20 11904279 OV G A Missense p.R374H c.1121G>A 20 11903866 LUSC G A Missense p.V148M c.442G>A 20 11900390 BRCA G A Synonymous p.K61K c.183G>A 20 11899106 BRCA G A Synonymous p.Q267Q c.801G>A 20 11903546 UCEC G T Missense p.A111S c.331G>T 20 11899738 STAD G T Missense p.C11F c.32G>T 20 11898955 LUAD G T Missense p.Q431H c.1293G>T 20 11904038 LUAD G T Missense p.R109I c.326G>T 20 11899249 LUSC G T Missense p.V227L c.679G>T 20 11903424 LUSC T A Missense p.L313Q c.938T>A 20 11903683 HNSC T A Synonymous p.A176A c.528T>A 20 11900476 STAD T C IntronicSNV . c.1-12771T>C 20 11886153 CLL T C Missense p.M1T c.2T>C 20 11898925 SCLC T C Synonymous p.C226C c.678T>C 20 11903423 LUSC T C Synonymous p.N34N c.102T>C 20 11899025 UCEC T C Synonymous p.P358P c.1074T>C 20 11903819 PAAD T C Synonymous p.Y182Y c.546T>C 20 11903291 BRCA T G Missense p.C212G c.634T>G 20 11903379 BRCA T G Missense p.I264M c.792T>G 20 11903537 CM