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 6 99347204 99347204 + Missense_Mutation SNP G G C TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 g.chr6:99347204G>C c.1257C>G c.(1255-1257)ttC>ttG p.F419L BLCA 6 99347205 99347205 + Missense_Mutation SNP A A G TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr6:99347205A>G c.1256T>C c.(1255-1257)tTc>tCc p.F419S BLCA 6 99347212 99347212 + Nonsense_Mutation SNP G G A TCGA-XF-AAML-01A-11D-A42E-08 TCGA-XF-AAML-10A-01D-A42H-08 g.chr6:99347212G>A c.1249C>T c.(1249-1251)Caa>Taa p.Q417* BLCA 6 99347252 99347252 + Silent SNP T T C TCGA-S5-A6DX-01A-11D-A31L-08 TCGA-S5-A6DX-10A-01D-A31J-08 g.chr6:99347252T>C c.1209A>G c.(1207-1209)ctA>ctG p.L403L BRCA 6 99322245 99322245 + Missense_Mutation SNP A A G TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 g.chr6:99322245A>G c.1775T>C c.(1774-1776)gTg>gCg p.V592A BRCA 6 99328466 99328466 + Missense_Mutation SNP G G A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr6:99328466G>A c.1352C>T c.(1351-1353)tCa>tTa p.S451L BRCA 6 99365418 99365418 + Missense_Mutation SNP G G T TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 g.chr6:99365418G>T c.690C>A c.(688-690)gaC>gaA p.D230E BRCA 6 99374449 99374449 + Missense_Mutation SNP G G C TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 g.chr6:99374449G>C c.416C>G c.(415-417)gCt>gGt p.A139G CESC 6 99347235 99347235 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 g.chr6:99347235G>A c.1226C>T c.(1225-1227)tCc>tTc p.S409F CESC 6 99365576 99365576 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr6:99365576C>G c.532G>C c.(532-534)Gag>Cag p.E178Q CHOL 6 99323408 99323408 + Missense_Mutation SNP C C T TCGA-ZH-A8Y8-01A-51D-A417-09 TCGA-ZH-A8Y8-10A-01D-A41A-09 g.chr6:99323408C>T c.1585G>A c.(1585-1587)Gca>Aca p.A529T COAD 6 99323408 99323408 + Missense_Mutation SNP C C T TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr6:99323408C>T c.1585G>A c.(1585-1587)Gca>Aca p.A529T COAD 6 99323419 99323419 + Missense_Mutation SNP A A G TCGA-DM-A1HA-01A-11D-A152-10 TCGA-DM-A1HA-10A-01D-A152-10 g.chr6:99323419A>G c.1574T>C c.(1573-1575)tTc>tCc p.F525S COAD 6 99347335 99347335 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr6:99347335C>T c.1126G>A c.(1126-1128)Gaa>Aaa p.E376K COAD 6 99353377 99353377 + Missense_Mutation SNP C C T TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr6:99353377C>T c.1028G>A c.(1027-1029)cGc>cAc p.R343H COAD 6 99353510 99353510 + Missense_Mutation SNP C C T TCGA-D5-6538-01A-11D-1719-10 TCGA-D5-6538-10A-01D-1719-10 g.chr6:99353510C>T c.895G>A c.(895-897)Gac>Aac p.D299N COAD 6 99365358 99365358 + Silent SNP G G T TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr6:99365358G>T c.750C>A c.(748-750)gcC>gcA p.A250A COAD 6 99374412 99374412 + Silent SNP G G A TCGA-F4-6703-01A-11D-1835-10 TCGA-F4-6703-10A-01D-1835-10 g.chr6:99374412G>A c.453C>T c.(451-453)gtC>gtT p.V151V COAD 6 99374514 99374514 + Silent SNP C C T TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr6:99374514C>T c.351G>A c.(349-351)acG>acA p.T117T COADREAD 6 99323408 99323408 + Missense_Mutation SNP C C T TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr6:99323408C>T c.1585G>A c.(1585-1587)Gca>Aca p.A529T COADREAD 6 99323419 99323419 + Missense_Mutation SNP A A G TCGA-DM-A1HA-01A-11D-A152-10 TCGA-DM-A1HA-10A-01D-A152-10 g.chr6:99323419A>G c.1574T>C c.(1573-1575)tTc>tCc p.F525S COADREAD 6 99323420 99323420 + Missense_Mutation SNP A A G TCGA-DY-A0XA-01A-11D-A152-10 TCGA-DY-A0XA-10A-01D-A152-10 g.chr6:99323420A>G c.1573T>C c.(1573-1575)Ttc>Ctc p.F525L COADREAD 6 99323420 99323420 + Missense_Mutation SNP A A G TCGA-G5-6235-01A-11D-1733-10 TCGA-G5-6235-10A-01D-1733-10 g.chr6:99323420A>G c.1573T>C c.(1573-1575)Ttc>Ctc p.F525L COADREAD 6 99323498 99323498 + Nonsense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr6:99323498C>A c.1495G>T c.(1495-1497)Gaa>Taa p.E499* COADREAD 6 99347335 99347335 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr6:99347335C>T c.1126G>A c.(1126-1128)Gaa>Aaa p.E376K COADREAD 6 99353377 99353377 + Missense_Mutation SNP C C T TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr6:99353377C>T c.1028G>A c.(1027-1029)cGc>cAc p.R343H COADREAD 6 99353510 99353510 + Missense_Mutation SNP C C T TCGA-D5-6538-01A-11D-1719-10 TCGA-D5-6538-10A-01D-1719-10 g.chr6:99353510C>T c.895G>A c.(895-897)Gac>Aac p.D299N COADREAD 6 99365358 99365358 + Silent SNP G G T TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr6:99365358G>T c.750C>A c.(748-750)gcC>gcA p.A250A COADREAD 6 99374412 99374412 + Silent SNP G G A TCGA-F4-6703-01A-11D-1835-10 TCGA-F4-6703-10A-01D-1835-10 g.chr6:99374412G>A c.453C>T c.(451-453)gtC>gtT p.V151V COADREAD 6 99374514 99374514 + Silent SNP C C T TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr6:99374514C>T c.351G>A c.(349-351)acG>acA p.T117T DLBC 6 99374436 99374436 + Silent SNP T T C TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr6:99374436T>C c.429A>G c.(427-429)ctA>ctG p.L143L ESCA 6 99322298 99322298 + Silent SNP C C G TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 g.chr6:99322298C>G c.1722G>C c.(1720-1722)ccG>ccC p.P574P ESCA 6 99347302 99347302 + Missense_Mutation SNP A A T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 g.chr6:99347302A>T c.1159T>A c.(1159-1161)Ttt>Att p.F387I ESCA 6 99353423 99353423 + Missense_Mutation SNP A A G TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 g.chr6:99353423A>G c.982T>C c.(982-984)Tac>Cac p.Y328H ESCA 6 99374651 99374651 + Missense_Mutation SNP A A G TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 g.chr6:99374651A>G c.214T>C c.(214-216)Tcc>Ccc p.S72P HNSC 6 99347183 99347183 + Silent SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 g.chr6:99347183G>A c.1278C>T c.(1276-1278)tgC>tgT p.C426C HNSC 6 99353378 99353378 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr6:99353378G>A c.1027C>T c.(1027-1029)Cgc>Tgc p.R343C HNSC 6 99353453 99353453 + Silent SNP G G A TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 g.chr6:99353453G>A c.952C>T c.(952-954)Ctg>Ttg p.L318L HNSC 6 99374800 99374800 + Missense_Mutation SNP C C T TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 g.chr6:99374800C>T c.65G>A c.(64-66)cGa>cAa p.R22Q HNSC 6 99374830 99374830 + Missense_Mutation SNP G G C TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 g.chr6:99374830G>C c.35C>G c.(34-36)aCc>aGc p.T12S KIPAN 6 99365256 99365256 + Silent SNP A A C TCGA-BP-4989-01A-01D-1462-08 TCGA-BP-4989-11A-01D-1462-08 g.chr6:99365256A>C c.852T>G c.(850-852)ccT>ccG p.P284P KIPAN 6 99365322 99365322 + Frame_Shift_Del DEL A A - TCGA-CJ-5684-01A-11D-1534-10 TCGA-CJ-5684-11A-01D-1535-10 g.chr6:99365322delA c.786delT c.(784-786)cttfs p.L262fs KIPAN 6 99365325 99365326 + Frame_Shift_Del DEL AC AC - TCGA-CJ-5684-01A-11D-1534-10 TCGA-CJ-5684-11A-01D-1535-10 g.chr6:99365325_99365326delAC c.782_783delGT c.(781-783)agtfs p.S261fs KIPAN 6 99374476 99374476 + Missense_Mutation SNP G G A TCGA-5P-A9KA-01A-11D-A42J-10 TCGA-5P-A9KA-10A-01D-A42M-10 g.chr6:99374476G>A c.389C>T c.(388-390)aCt>aTt p.T130I KIRC 6 99365256 99365256 + Silent SNP A A C TCGA-BP-4989-01A-01D-1462-08 TCGA-BP-4989-11A-01D-1462-08 g.chr6:99365256A>C c.852T>G c.(850-852)ccT>ccG p.P284P KIRC 6 99365322 99365322 + Frame_Shift_Del DEL A A - TCGA-CJ-5684-01A-11D-1534-10 TCGA-CJ-5684-11A-01D-1535-10 g.chr6:99365322delA c.786delT c.(784-786)cttfs p.L262fs KIRC 6 99365325 99365326 + Frame_Shift_Del DEL AC AC - TCGA-CJ-5684-01A-11D-1534-10 TCGA-CJ-5684-11A-01D-1535-10 g.chr6:99365325_99365326delAC c.782_783delGT c.(781-783)agtfs p.S261fs KIRP 6 99374476 99374476 + Missense_Mutation SNP G G A TCGA-5P-A9KA-01A-11D-A42J-10 TCGA-5P-A9KA-10A-01D-A42M-10 g.chr6:99374476G>A c.389C>T c.(388-390)aCt>aTt p.T130I LIHC 6 99322272 99322272 + Missense_Mutation SNP G G T TCGA-DD-A1EE-01A-11D-A12Z-10 TCGA-DD-A1EE-10A-01D-A12Z-10 g.chr6:99322272G>T c.1748C>A c.(1747-1749)tCt>tAt p.S583Y LIHC 6 99322272 99322272 + Missense_Mutation SNP G G T TCGA-EP-A26S-01A-11D-A16V-10 TCGA-EP-A26S-10A-01D-A16V-10 g.chr6:99322272G>T c.1748C>A c.(1747-1749)tCt>tAt p.S583Y LIHC 6 99323549 99323549 + Missense_Mutation SNP G G A TCGA-DD-AAEE-01A-11D-A40R-10 TCGA-DD-AAEE-10A-01D-A40U-10 g.chr6:99323549G>A c.1444C>T c.(1444-1446)Cgg>Tgg p.R482W LIHC 6 99328458 99328458 + Missense_Mutation SNP G G T TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr6:99328458G>T c.1360C>A c.(1360-1362)Cag>Aag p.Q454K LIHC 6 99353398 99353398 + Missense_Mutation SNP G G A TCGA-DD-AACK-01A-11D-A40R-10 TCGA-DD-AACK-10A-01D-A40U-10 g.chr6:99353398G>A c.1007C>T c.(1006-1008)tCt>tTt p.S336F LIHC 6 99374410 99374410 + Missense_Mutation SNP A A C TCGA-DD-A39Z-01A-11D-A20W-10 TCGA-DD-A39Z-11A-21D-A20W-10 g.chr6:99374410A>C c.455T>G c.(454-456)aTt>aGt p.I152S LIHC 6 99374696 99374696 + Nonsense_Mutation SNP C C A TCGA-LG-A6GG-01A-11D-A30V-10 TCGA-LG-A6GG-10A-01D-A30V-10 g.chr6:99374696C>A c.169G>T c.(169-171)Gaa>Taa p.E57* LUAD 6 99322155 99322155 + Nonstop_Mutation SNP C C A TCGA-69-7765-01A-11D-2167-08 TCGA-69-7765-10A-01D-2167-08 g.chr6:99322155C>A c.1865G>T c.(1864-1866)tGa>tTa p.*622L LUAD 6 99323305 99323305 + Missense_Mutation SNP T T G TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 g.chr6:99323305T>G c.1688A>C c.(1687-1689)cAg>cCg p.Q563P LUAD 6 99323339 99323339 + Missense_Mutation SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 g.chr6:99323339C>G c.1654G>C c.(1654-1656)Gat>Cat p.D552H LUAD 6 99328438 99328438 + Missense_Mutation SNP A A C TCGA-44-7670-01A-11D-2063-08 TCGA-44-7670-10A-01D-2063-08 g.chr6:99328438A>C c.1380T>G c.(1378-1380)agT>agG p.S460R LUAD 6 99365503 99365503 + Missense_Mutation SNP G G T TCGA-86-8073-01A-11D-2238-08 TCGA-86-8073-10A-01D-2238-08 g.chr6:99365503G>T c.605C>A c.(604-606)aCa>aAa p.T202K LUAD 6 99374599 99374599 + Missense_Mutation SNP C C A TCGA-50-5930-01A-11D-1753-08 TCGA-50-5930-11A-01D-1753-08 g.chr6:99374599C>A c.266G>T c.(265-267)gGt>gTt p.G89V LUAD 6 99374630 99374630 + Missense_Mutation SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 g.chr6:99374630C>A c.235G>T c.(235-237)Gct>Tct p.A79S LUAD 6 99374671 99374671 + Missense_Mutation SNP T T A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 g.chr6:99374671T>A c.194A>T c.(193-195)tAt>tTt p.Y65F LUAD 6 99374672 99374672 + Missense_Mutation SNP A A T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 g.chr6:99374672A>T c.193T>A c.(193-195)Tat>Aat p.Y65N LUAD 6 99374673 99374673 + Silent SNP A A G TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 g.chr6:99374673A>G c.192T>C c.(190-192)caT>caC p.H64H LUAD 6 99374724 99374724 + Silent SNP G G A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 g.chr6:99374724G>A c.141C>T c.(139-141)ctC>ctT p.L47L LUSC 6 99374492 99374492 + Missense_Mutation SNP C C T TCGA-66-2773-01A-01D-1267-08 TCGA-66-2773-11A-01D-1267-08 g.chr6:99374492C>T c.373G>A c.(373-375)Gac>Aac p.D125N OV 6 99322166 99322166 + Silent SNP G G A TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 g.chr6:99322166G>A c.1854C>T c.(1852-1854)agC>agT p.S618S PAAD 6 99347191 99347191 + Missense_Mutation SNP T T C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr6:99347191T>C c.1270A>G c.(1270-1272)Aag>Gag p.K424E PAAD 6 99347219 99347219 + Silent SNP T T C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr6:99347219T>C c.1242A>G c.(1240-1242)ctA>ctG p.L414L PAAD 6 99374837 99374837 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr6:99374837C>T c.28G>A c.(28-30)Gtt>Att p.V10I PRAD 6 99323344 99323344 + Missense_Mutation SNP T T G TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 g.chr6:99323344T>G c.1649A>C c.(1648-1650)gAc>gCc p.D550A READ 6 99323420 99323420 + Missense_Mutation SNP A A G TCGA-DY-A0XA-01A-11D-A152-10 TCGA-DY-A0XA-10A-01D-A152-10 g.chr6:99323420A>G c.1573T>C c.(1573-1575)Ttc>Ctc p.F525L READ 6 99323420 99323420 + Missense_Mutation SNP A A G TCGA-G5-6235-01A-11D-1733-10 TCGA-G5-6235-10A-01D-1733-10 g.chr6:99323420A>G c.1573T>C c.(1573-1575)Ttc>Ctc p.F525L READ 6 99323498 99323498 + Nonsense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr6:99323498C>A c.1495G>T c.(1495-1497)Gaa>Taa p.E499* SKCM 6 99322293 99322293 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr6:99322293G>A c.1727C>T c.(1726-1728)tCc>tTc p.S576F SKCM 6 99347336 99347336 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr6:99347336G>A c.1125C>T c.(1123-1125)tcC>tcT p.S375S SKCM 6 99353320 99353320 + Missense_Mutation SNP G G A TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr6:99353320G>A c.1085C>T c.(1084-1086)tCt>tTt p.S362F SKCM 6 99365585 99365585 + Missense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 g.chr6:99365585G>A c.523C>T c.(523-525)Ctt>Ttt p.L175F SKCM 6 99374369 99374369 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 g.chr6:99374369G>A c.496C>T c.(496-498)Cca>Tca p.P166S SKCM 6 99374370 99374370 + Silent SNP A A G TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 g.chr6:99374370A>G c.495T>C c.(493-495)aaT>aaC p.N165N

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 6 99370475 99370475 single base substitution C A intron_variant BOCA-FR 6 99395531 99395531 single base substitution G T intron_variant BRCA-EU 6 99312575 99312575 single base substitution G A downstream_gene_variant BRCA-EU 6 99312666 99312666 single base substitution C G downstream_gene_variant BRCA-EU 6 99313305 99313305 single base substitution A C downstream_gene_variant BRCA-EU 6 99313629 99313629 single base substitution G C downstream_gene_variant BRCA-EU 6 99314103 99314103 single base substitution C T downstream_gene_variant BRCA-EU 6 99314175 99314175 single base substitution C A downstream_gene_variant BRCA-EU 6 99315380 99315380 single base substitution T G downstream_gene_variant BRCA-EU 6 99316147 99316147 single base substitution G A downstream_gene_variant BRCA-EU 6 99316159 99316159 single base substitution C A downstream_gene_variant BRCA-EU 6 99316174 99316174 single base substitution T C downstream_gene_variant BRCA-EU 6 99319049 99319049 single base substitution G C 3_prime_UTR_variant BRCA-EU 6 99319049 99319049 single base substitution G C downstream_gene_variant BRCA-EU 6 99319471 99319471 single base substitution C A 3_prime_UTR_variant BRCA-EU 6 99319471 99319471 single base substitution C A downstream_gene_variant BRCA-EU 6 99320531 99320531 single base substitution C A 3_prime_UTR_variant BRCA-EU 6 99320531 99320531 single base substitution C A downstream_gene_variant BRCA-EU 6 99322931 99322931 deletion of <=200bp A - intron_variant BRCA-EU 6 99323169 99323169 single base substitution T G intron_variant BRCA-EU 6 99323832 99323832 single base substitution G A intron_variant BRCA-EU 6 99325207 99325207 single base substitution A C intron_variant BRCA-EU 6 99326741 99326741 single base substitution G A intron_variant BRCA-EU 6 99327040 99327040 single base substitution G A intron_variant BRCA-EU 6 99328819 99328820 deletion of <=200bp AA - intron_variant BRCA-EU 6 99330907 99330907 single base substitution G T intron_variant BRCA-EU 6 99330975 99330975 single base substitution G A intron_variant BRCA-EU 6 99330996 99330996 single base substitution A T intron_variant BRCA-EU 6 99332965 99332965 single base substitution A C intron_variant BRCA-EU 6 99335072 99335072 single base substitution G A intron_variant BRCA-EU 6 99335563 99335563 single base substitution T C intron_variant BRCA-EU 6 99335638 99335638 single base substitution G C intron_variant BRCA-EU 6 99335986 99335986 single base substitution C T intron_variant BRCA-EU 6 99337064 99337064 single base substitution G A intron_variant BRCA-EU 6 99337426 99337426 single base substitution G A intron_variant BRCA-EU 6 99338561 99338561 single base substitution G T intron_variant BRCA-EU 6 99338801 99338801 insertion of <=200bp - A intron_variant BRCA-EU 6 99342340 99342340 single base substitution T C intron_variant BRCA-EU 6 99342900 99342900 single base substitution C T intron_variant BRCA-EU 6 99343400 99343400 single base substitution A G intron_variant BRCA-EU 6 99343960 99343960 single base substitution C T intron_variant BRCA-EU 6 99344037 99344037 insertion of <=200bp - A intron_variant BRCA-EU 6 99344087 99344087 single base substitution C A intron_variant BRCA-EU 6 99344333 99344333 single base substitution C G intron_variant BRCA-EU 6 99345497 99345497 single base substitution G C intron_variant BRCA-EU 6 99347078 99347078 single base substitution T A intron_variant BRCA-EU 6 99347538 99347538 insertion of <=200bp - A intron_variant BRCA-EU 6 99347684 99347684 deletion of <=200bp A - intron_variant BRCA-EU 6 99347787 99347787 single base substitution C T intron_variant BRCA-EU 6 99348180 99348180 single base substitution G T intron_variant BRCA-EU 6 99348212 99348212 single base substitution G C intron_variant BRCA-EU 6 99348635 99348635 single base substitution A G intron_variant BRCA-EU 6 99350101 99350101 deletion of <=200bp T - intron_variant BRCA-EU 6 99353032 99353032 single base substitution C A intron_variant BRCA-EU 6 99353515 99353515 single base substitution A G missense_variant L297P 890T>C BRCA-EU 6 99354109 99354109 single base substitution T C intron_variant BRCA-EU 6 99354608 99354608 single base substitution C T intron_variant BRCA-EU 6 99355042 99355042 single base substitution G C intron_variant BRCA-EU 6 99355136 99355136 single base substitution G C intron_variant BRCA-EU 6 99356090 99356090 single base substitution G C intron_variant BRCA-EU 6 99357453 99357453 single base substitution T A intron_variant BRCA-EU 6 99358183 99358183 single base substitution C T intron_variant BRCA-EU 6 99358437 99358437 single base substitution G A intron_variant BRCA-EU 6 99358801 99358801 single base substitution C T intron_variant BRCA-EU 6 99360417 99360417 insertion of <=200bp - AA intron_variant BRCA-EU 6 99360682 99360682 single base substitution G C intron_variant BRCA-EU 6 99360866 99360866 single base substitution A C intron_variant BRCA-EU 6 99360878 99360878 single base substitution A G intron_variant BRCA-EU 6 99361150 99361150 single base substitution G C intron_variant BRCA-EU 6 99361551 99361551 single base substitution G C intron_variant BRCA-EU 6 99362078 99362078 single base substitution A T intron_variant BRCA-EU 6 99363795 99363795 single base substitution C G intron_variant BRCA-EU 6 99363896 99363896 single base substitution A C intron_variant BRCA-EU 6 99364699 99364699 single base substitution A G intron_variant BRCA-EU 6 99364939 99364939 single base substitution T G intron_variant BRCA-EU 6 99368955 99368955 single base substitution G C intron_variant BRCA-EU 6 99370389 99370389 single base substitution G A intron_variant BRCA-EU 6 99370504 99370504 single base substitution T A intron_variant BRCA-EU 6 99370648 99370648 single base substitution G A intron_variant BRCA-EU 6 99371532 99371532 single base substitution A G intron_variant BRCA-EU 6 99371726 99371726 deletion of <=200bp T - intron_variant BRCA-EU 6 99372366 99372366 single base substitution G C intron_variant BRCA-EU 6 99373137 99373137 single base substitution G A intron_variant BRCA-EU 6 99374740 99374740 single base substitution C T missense_variant S42N 125G>A BRCA-EU 6 99374870 99374870 single base substitution T A 5_prime_UTR_variant BRCA-EU 6 99375548 99375548 single base substitution G C intron_variant BRCA-EU 6 99376059 99376059 single base substitution C G intron_variant BRCA-EU 6 99376735 99376735 single base substitution C T intron_variant BRCA-EU 6 99378194 99378194 single base substitution G A intron_variant BRCA-EU 6 99378912 99378912 single base substitution C G intron_variant BRCA-EU 6 99379693 99379693 single base substitution T A intron_variant BRCA-EU 6 99380071 99380071 single base substitution G A intron_variant BRCA-EU 6 99380452 99380452 single base substitution C T intron_variant BRCA-EU 6 99380926 99380926 single base substitution A G intron_variant BRCA-EU 6 99382258 99382258 single base substitution G C intron_variant BRCA-EU 6 99382437 99382437 single base substitution C G intron_variant BRCA-EU 6 99384032 99384032 single base substitution G T intron_variant BRCA-EU 6 99384065 99384065 single base substitution T C intron_variant BRCA-EU 6 99385365 99385365 single base substitution A G intron_variant BRCA-EU 6 99386858 99386858 single base substitution G T intron_variant BRCA-EU 6 99387177 99387177 single base substitution A G intron_variant BRCA-EU 6 99387519 99387519 single base substitution A G intron_variant BRCA-EU 6 99389180 99389180 single base substitution G T intron_variant BRCA-EU 6 99389243 99389243 single base substitution A G intron_variant BRCA-EU 6 99389582 99389582 single base substitution G A intron_variant BRCA-EU 6 99389744 99389744 single base substitution A T intron_variant BRCA-EU 6 99390664 99390664 single base substitution G T intron_variant BRCA-EU 6 99390842 99390842 single base substitution A G intron_variant BRCA-EU 6 99391209 99391209 single base substitution G T intron_variant BRCA-EU 6 99392081 99392081 single base substitution G A intron_variant BRCA-EU 6 99392232 99392232 single base substitution C T intron_variant BRCA-EU 6 99393595 99393595 single base substitution G C intron_variant BRCA-EU 6 99393964 99393964 single base substitution C T intron_variant BRCA-EU 6 99394161 99394161 single base substitution G A intron_variant BRCA-EU 6 99396230 99396230 single base substitution C T upstream_gene_variant BRCA-EU 6 99396490 99396490 single base substitution C G upstream_gene_variant BRCA-EU 6 99396939 99396939 single base substitution T G upstream_gene_variant BRCA-EU 6 99398613 99398613 insertion of <=200bp - T upstream_gene_variant BRCA-EU 6 99398970 99398970 single base substitution A T upstream_gene_variant BRCA-EU 6 99399407 99399407 single base substitution T A upstream_gene_variant BRCA-EU 6 99399958 99399958 single base substitution T C upstream_gene_variant BRCA-FR 6 99312575 99312575 single base substitution G A downstream_gene_variant BRCA-FR 6 99314103 99314103 single base substitution C T downstream_gene_variant BRCA-FR 6 99316223 99316223 single base substitution A T downstream_gene_variant BRCA-FR 6 99322080 99322080 single base substitution A G 3_prime_UTR_variant BRCA-FR 6 99339689 99339689 single base substitution C A intron_variant BRCA-FR 6 99343960 99343960 single base substitution C T intron_variant BRCA-FR 6 99344333 99344333 single base substitution C G intron_variant BRCA-FR 6 99355136 99355136 single base substitution G C intron_variant BRCA-FR 6 99361150 99361150 single base substitution G C intron_variant BRCA-FR 6 99368955 99368955 single base substitution G C intron_variant BRCA-FR 6 99372366 99372366 single base substitution G C intron_variant BRCA-FR 6 99376059 99376059 single base substitution C G intron_variant BRCA-FR 6 99380071 99380071 single base substitution G A intron_variant BRCA-FR 6 99382258 99382258 single base substitution G C intron_variant BRCA-FR 6 99382437 99382437 single base substitution C G intron_variant BRCA-FR 6 99384032 99384032 single base substitution G T intron_variant BRCA-FR 6 99389582 99389582 single base substitution G A intron_variant BRCA-FR 6 99391209 99391209 single base substitution G T intron_variant BRCA-FR 6 99393647 99393647 single base substitution G C intron_variant BRCA-UK 6 99325044 99325044 single base substitution G A intron_variant BRCA-UK 6 99326741 99326741 single base substitution G A intron_variant BRCA-UK 6 99346400 99346400 single base substitution G A intron_variant BRCA-UK 6 99352397 99352397 single base substitution G A intron_variant BRCA-UK 6 99360682 99360682 single base substitution G C intron_variant BRCA-UK 6 99374870 99374870 single base substitution T A 5_prime_UTR_variant BRCA-UK 6 99382861 99382861 single base substitution G T intron_variant BRCA-UK 6 99395341 99395341 single base substitution G A intron_variant BRCA-US 6 99322245 99322245 single base substitution A G missense_variant V592A 1775T>C BRCA-US 6 99328466 99328466 single base substitution G A missense_variant S451L 1352C>T BRCA-US 6 99365418 99365418 single base substitution G T missense_variant D230E 690C>A BRCA-US 6 99374449 99374449 single base substitution G C missense_variant A139G 416C>G BTCA-JP 6 99374273 99374273 single base substitution T C intron_variant BTCA-JP 6 99374542 99374542 single base substitution G T missense_variant P108H 323C>A BTCA-JP 6 99374807 99374807 single base substitution G A missense_variant R20W 58C>T BTCA-JP 6 99374939 99374939 deletion of <=200bp A - splice_region_variant CESC-US 6 99347235 99347235 single base substitution G A missense_variant S409F 1226C>T CESC-US 6 99365576 99365576 single base substitution C G missense_variant E178Q 532G>C CLLE-ES 6 99319820 99319820 single base substitution T G 3_prime_UTR_variant CLLE-ES 6 99319820 99319820 single base substitution T G downstream_gene_variant CLLE-ES 6 99327567 99327596 deletion of <=200bp CCCAATATGGTGAAACCCAAGACCAGCCTG - intron_variant CLLE-ES 6 99328078 99328078 single base substitution T C intron_variant CLLE-ES 6 99331759 99331759 single base substitution C A intron_variant CLLE-ES 6 99371782 99371782 single base substitution T A intron_variant CLLE-ES 6 99397805 99397805 single base substitution G C upstream_gene_variant COAD-US 6 99323408 99323408 single base substitution C T missense_variant A529T 1585G>A COAD-US 6 99323424 99323424 single base substitution C T synonymous_variant G523G 1569G>A COAD-US 6 99347335 99347335 single base substitution C T missense_variant E376K 1126G>A COAD-US 6 99353510 99353510 single base substitution C T missense_variant D299N 895G>A COAD-US 6 99365358 99365358 single base substitution G T synonymous_variant A250A 750C>A COAD-US 6 99365397 99365397 single base substitution C A missense_variant K237N 711G>T COAD-US 6 99374412 99374412 single base substitution G A synonymous_variant V151V 453C>T COAD-US 6 99374514 99374514 single base substitution C T synonymous_variant T117T 351G>A COCA-CN 6 99315498 99315498 single base substitution C T downstream_gene_variant COCA-CN 6 99323555 99323555 single base substitution T G missense_variant K480Q 1438A>C COCA-CN 6 99325700 99325700 single base substitution T A intron_variant COCA-CN 6 99327774 99327774 single base substitution G A intron_variant COCA-CN 6 99328456 99328456 single base substitution C A missense_variant Q454H 1362G>T COCA-CN 6 99341876 99341876 single base substitution C A intron_variant COCA-CN 6 99341877 99341877 single base substitution C A intron_variant COCA-CN 6 99347335 99347335 single base substitution C T missense_variant E376K 1126G>A COCA-CN 6 99348233 99348233 single base substitution G A intron_variant COCA-CN 6 99353451 99353451 single base substitution C T synonymous_variant L318L 954G>A COCA-CN 6 99353594 99353594 single base substitution C T intron_variant COCA-CN 6 99365349 99365349 single base substitution T G missense_variant E253D 759A>C COCA-CN 6 99365498 99365498 single base substitution G T missense_variant L204I 610C>A COCA-CN 6 99374559 99374559 single base substitution T A synonymous_variant T102T 306A>T COCA-CN 6 99374572 99374572 single base substitution C T missense_variant R98Q 293G>A EOPC-DE 6 99312155 99312155 single base substitution A G downstream_gene_variant EOPC-DE 6 99325804 99325804 single base substitution A C intron_variant EOPC-DE 6 99331036 99331036 single base substitution A G intron_variant EOPC-DE 6 99356668 99356668 single base substitution T C intron_variant ESAD-UK 6 99311791 99311791 single base substitution A C downstream_gene_variant ESAD-UK 6 99313530 99313530 single base substitution C G downstream_gene_variant ESAD-UK 6 99313854 99313854 single base substitution T G downstream_gene_variant ESAD-UK 6 99319067 99319067 single base substitution G A 3_prime_UTR_variant ESAD-UK 6 99319067 99319067 single base substitution G A downstream_gene_variant ESAD-UK 6 99320183 99320183 single base substitution A G 3_prime_UTR_variant ESAD-UK 6 99320183 99320183 single base substitution A G downstream_gene_variant ESAD-UK 6 99321031 99321031 single base substitution G A 3_prime_UTR_variant ESAD-UK 6 99321031 99321031 single base substitution G A downstream_gene_variant ESAD-UK 6 99321077 99321077 single base substitution C A 3_prime_UTR_variant ESAD-UK 6 99321077 99321077 single base substitution C A downstream_gene_variant ESAD-UK 6 99322330 99322330 single base substitution A G intron_variant ESAD-UK 6 99322814 99322814 single base substitution G A intron_variant ESAD-UK 6 99324057 99324057 single base substitution G A intron_variant ESAD-UK 6 99324914 99324914 single base substitution G A intron_variant ESAD-UK 6 99325435 99325435 single base substitution C T intron_variant ESAD-UK 6 99326697 99326697 single base substitution C A intron_variant ESAD-UK 6 99330704 99330704 single base substitution A G intron_variant ESAD-UK 6 99334622 99334622 single base substitution A G intron_variant ESAD-UK 6 99335165 99335165 single base substitution A C intron_variant ESAD-UK 6 99335706 99335706 single base substitution G A intron_variant ESAD-UK 6 99336321 99336321 single base substitution G C intron_variant ESAD-UK 6 99338122 99338122 single base substitution C T intron_variant ESAD-UK 6 99338504 99338504 single base substitution A C intron_variant ESAD-UK 6 99339548 99339548 single base substitution C T intron_variant ESAD-UK 6 99339767 99339767 single base substitution G T intron_variant ESAD-UK 6 99340255 99340255 single base substitution A C intron_variant ESAD-UK 6 99342512 99342512 single base substitution C T intron_variant ESAD-UK 6 99342664 99342664 single base substitution T C intron_variant ESAD-UK 6 99343688 99343688 single base substitution T A intron_variant ESAD-UK 6 99343981 99343981 single base substitution G C intron_variant ESAD-UK 6 99345445 99345445 single base substitution C A intron_variant ESAD-UK 6 99346484 99346484 single base substitution A T intron_variant ESAD-UK 6 99346880 99346880 single base substitution C T intron_variant ESAD-UK 6 99347632 99347632 single base substitution T C intron_variant ESAD-UK 6 99348490 99348490 single base substitution G T intron_variant ESAD-UK 6 99349213 99349213 single base substitution G T intron_variant ESAD-UK 6 99349778 99349778 deletion of <=200bp T - intron_variant ESAD-UK 6 99351891 99351891 single base substitution A G intron_variant ESAD-UK 6 99353629 99353629 single base substitution A T intron_variant ESAD-UK 6 99357079 99357079 single base substitution C G intron_variant ESAD-UK 6 99357513 99357513 single base substitution C A intron_variant ESAD-UK 6 99358661 99358661 single base substitution G T intron_variant ESAD-UK 6 99359099 99359099 single base substitution C A intron_variant ESAD-UK 6 99359810 99359810 single base substitution T A intron_variant ESAD-UK 6 99361739 99361739 single base substitution T A intron_variant ESAD-UK 6 99366490 99366490 single base substitution A C intron_variant ESAD-UK 6 99366960 99366960 single base substitution C T intron_variant ESAD-UK 6 99368233 99368233 single base substitution A G intron_variant ESAD-UK 6 99369165 99369165 single base substitution G T intron_variant ESAD-UK 6 99369307 99369307 single base substitution T G intron_variant ESAD-UK 6 99370142 99370142 single base substitution G C intron_variant ESAD-UK 6 99372311 99372311 insertion of <=200bp - T intron_variant ESAD-UK 6 99372772 99372772 single base substitution T G intron_variant ESAD-UK 6 99373741 99373741 single base substitution A G intron_variant ESAD-UK 6 99374492 99374492 single base substitution C A missense_variant D125Y 373G>T ESAD-UK 6 99375475 99375475 single base substitution G A intron_variant ESAD-UK 6 99375809 99375809 single base substitution T C intron_variant ESAD-UK 6 99380284 99380284 single base substitution A G intron_variant ESAD-UK 6 99382289 99382289 single base substitution G A intron_variant ESAD-UK 6 99382540 99382540 single base substitution A G intron_variant ESAD-UK 6 99383032 99383032 single base substitution C G intron_variant ESAD-UK 6 99384570 99384573 deletion of <=200bp ATAT - intron_variant ESAD-UK 6 99387036 99387036 single base substitution C T intron_variant ESAD-UK 6 99389428 99389428 single base substitution C G intron_variant ESAD-UK 6 99389679 99389679 single base substitution T G intron_variant ESAD-UK 6 99389743 99389743 single base substitution T A intron_variant ESAD-UK 6 99393704 99393704 single base substitution G A intron_variant ESAD-UK 6 99395311 99395311 single base substitution T A intron_variant ESAD-UK 6 99395694 99395694 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 6 99397463 99397463 single base substitution C T upstream_gene_variant ESAD-UK 6 99398760 99398760 single base substitution T G upstream_gene_variant ESAD-UK 6 99398977 99398977 single base substitution T C upstream_gene_variant ESAD-UK 6 99399086 99399086 single base substitution T G upstream_gene_variant ESAD-UK 6 99399216 99399216 single base substitution G C upstream_gene_variant ESAD-UK 6 99399524 99399524 single base substitution T C upstream_gene_variant ESAD-UK 6 99399608 99399608 single base substitution T G upstream_gene_variant ESAD-UK 6 99399972 99399972 single base substitution T G upstream_gene_variant ESAD-UK 6 99400439 99400439 single base substitution G T upstream_gene_variant ESAD-UK 6 99400660 99400660 single base substitution T A upstream_gene_variant ESCA-CN 6 99365372 99365372 single base substitution T C missense_variant I246V 736A>G KIRC-US 6 99365256 99365256 single base substitution A C synonymous_variant P284P 852T>G KIRC-US 6 99365322 99365322 deletion of <=200bp A - frameshift_variant L262 KIRC-US 6 99365325 99365326 deletion of <=200bp AC - frameshift_variant S261 LAML-KR 6 99364329 99364329 single base substitution G A intron_variant LAML-KR 6 99383196 99383196 single base substitution C T intron_variant LICA-FR 6 99353472 99353476 deletion of <=200bp GCTCA - frameshift_variant LS310 LICA-FR 6 99358372 99358372 single base substitution A T intron_variant LICA-FR 6 99363891 99363891 single base substitution C G intron_variant LICA-FR 6 99398598 99398598 single base substitution A T upstream_gene_variant LIHC-US 6 99322272 99322272 single base substitution G T missense_variant S583Y 1748C>A LIHC-US 6 99328458 99328458 single base substitution G T missense_variant Q454K 1360C>A LIHC-US 6 99374410 99374410 single base substitution A C missense_variant I152S 455T>G LIHC-US 6 99374696 99374696 single base substitution C A stop_gained E57* 169G>T LINC-JP 6 99322114 99322114 single base substitution C A 3_prime_UTR_variant LINC-JP 6 99327167 99327167 single base substitution C A intron_variant LINC-JP 6 99328510 99328515 deletion of <=200bp GGGACC - intron_variant LINC-JP 6 99333888 99333888 single base substitution G A intron_variant LINC-JP 6 99355090 99355090 single base substitution G C intron_variant LINC-JP 6 99365525 99365525 single base substitution T C missense_variant I195V 583A>G LINC-JP 6 99368550 99368550 single base substitution G T intron_variant LINC-JP 6 99376242 99376242 single base substitution C A intron_variant LINC-JP 6 99380406 99380407 deletion of <=200bp AT - intron_variant LINC-JP 6 99381759 99381759 single base substitution G A intron_variant LINC-JP 6 99389610 99389610 single base substitution G C intron_variant LINC-JP 6 99390461 99390461 single base substitution T C intron_variant LIRI-JP 6 99311474 99311474 single base substitution T C downstream_gene_variant LIRI-JP 6 99311479 99311479 single base substitution T C downstream_gene_variant LIRI-JP 6 99311884 99311884 single base substitution T A downstream_gene_variant LIRI-JP 6 99313786 99313786 single base substitution C G downstream_gene_variant LIRI-JP 6 99316234 99316234 single base substitution A G downstream_gene_variant LIRI-JP 6 99316665 99316665 single base substitution T C 3_prime_UTR_variant LIRI-JP 6 99316665 99316665 single base substitution T C downstream_gene_variant LIRI-JP 6 99316800 99316800 single base substitution T C 3_prime_UTR_variant LIRI-JP 6 99316800 99316800 single base substitution T C downstream_gene_variant LIRI-JP 6 99318929 99318929 single base substitution G A 3_prime_UTR_variant LIRI-JP 6 99318929 99318929 single base substitution G A downstream_gene_variant LIRI-JP 6 99320658 99320658 single base substitution T C 3_prime_UTR_variant LIRI-JP 6 99320658 99320658 single base substitution T C downstream_gene_variant LIRI-JP 6 99320932 99320932 single base substitution G T 3_prime_UTR_variant LIRI-JP 6 99320932 99320932 single base substitution G T downstream_gene_variant LIRI-JP 6 99322914 99322914 single base substitution T C intron_variant LIRI-JP 6 99323638 99323638 single base substitution A G intron_variant LIRI-JP 6 99326489 99326489 single base substitution T C intron_variant LIRI-JP 6 99327382 99327382 single base substitution G C intron_variant LIRI-JP 6 99327775 99327775 single base substitution C T intron_variant LIRI-JP 6 99337848 99337848 single base substitution T C intron_variant LIRI-JP 6 99339375 99339375 single base substitution T C intron_variant LIRI-JP 6 99343969 99343969 single base substitution T A intron_variant LIRI-JP 6 99343987 99343987 single base substitution T G intron_variant LIRI-JP 6 99344316 99344316 single base substitution G C intron_variant LIRI-JP 6 99346232 99346232 single base substitution T C intron_variant LIRI-JP 6 99346692 99346692 single base substitution T C intron_variant LIRI-JP 6 99346702 99346702 single base substitution A G intron_variant LIRI-JP 6 99347525 99347525 single base substitution G C intron_variant LIRI-JP 6 99347802 99347802 single base substitution A G intron_variant LIRI-JP 6 99347885 99347885 single base substitution G A intron_variant LIRI-JP 6 99350316 99350316 single base substitution C G intron_variant LIRI-JP 6 99351740 99351740 single base substitution T C intron_variant LIRI-JP 6 99353576 99353576 single base substitution A G intron_variant LIRI-JP 6 99354293 99354293 single base substitution C T intron_variant LIRI-JP 6 99355559 99355559 single base substitution T A intron_variant LIRI-JP 6 99356842 99356842 single base substitution T C intron_variant LIRI-JP 6 99357218 99357218 single base substitution T C intron_variant LIRI-JP 6 99358061 99358061 single base substitution C T intron_variant LIRI-JP 6 99365366 99365366 single base substitution C A missense_variant D248Y 742G>T LIRI-JP 6 99367474 99367474 single base substitution G A intron_variant LIRI-JP 6 99372123 99372123 deletion of <=200bp A - intron_variant LIRI-JP 6 99372146 99372146 single base substitution G A intron_variant LIRI-JP 6 99372259 99372259 single base substitution C A intron_variant LIRI-JP 6 99373814 99373814 single base substitution G T intron_variant LIRI-JP 6 99374235 99374235 single base substitution T A intron_variant LIRI-JP 6 99374270 99374270 single base substitution T C intron_variant LIRI-JP 6 99374804 99374804 single base substitution G T missense_variant R21S 61C>A LIRI-JP 6 99375491 99375498 deletion of <=200bp TTAATTTA - intron_variant LIRI-JP 6 99375523 99375523 single base substitution G A intron_variant LIRI-JP 6 99375593 99375593 single base substitution G A 5_prime_UTR_variant LIRI-JP 6 99375620 99375620 single base substitution A C 5_prime_UTR_premature_start_codon_gain_variant LIRI-JP 6 99375621 99375621 single base substitution A C 5_prime_UTR_premature_start_codon_gain_variant LIRI-JP 6 99375634 99375651 deletion of <=200bp TCCAGGTACCCTGAACTT - 5_prime_UTR_variant LIRI-JP 6 99375648 99375648 single base substitution A C 5_prime_UTR_variant LIRI-JP 6 99375707 99375707 single base substitution A G intron_variant LIRI-JP 6 99375933 99375936 deletion of <=200bp TGTT - intron_variant LIRI-JP 6 99376072 99376072 single base substitution T C intron_variant LIRI-JP 6 99376843 99376843 single base substitution T C intron_variant LIRI-JP 6 99377408 99377408 single base substitution T C intron_variant LIRI-JP 6 99377736 99377736 single base substitution A C intron_variant LIRI-JP 6 99378029 99378029 single base substitution A C intron_variant LIRI-JP 6 99378858 99378858 single base substitution A G intron_variant LIRI-JP 6 99379399 99379399 single base substitution G A intron_variant LIRI-JP 6 99380212 99380212 single base substitution T A intron_variant LIRI-JP 6 99381488 99381488 single base substitution T C intron_variant LIRI-JP 6 99382094 99382094 single base substitution A C intron_variant LIRI-JP 6 99387324 99387324 single base substitution T G intron_variant LIRI-JP 6 99387958 99387958 single base substitution T C intron_variant LIRI-JP 6 99388714 99388714 single base substitution G C intron_variant LIRI-JP 6 99392015 99392015 deletion of <=200bp A - intron_variant LIRI-JP 6 99392223 99392223 single base substitution G A intron_variant LIRI-JP 6 99392613 99392613 single base substitution C T intron_variant LIRI-JP 6 99393106 99393106 single base substitution T G intron_variant LIRI-JP 6 99395008 99395008 single base substitution T C intron_variant LIRI-JP 6 99395252 99395252 single base substitution C T intron_variant LIRI-JP 6 99396349 99396361 deletion of <=200bp CAGAAGCCTCTGA - upstream_gene_variant LIRI-JP 6 99397858 99397858 single base substitution A G upstream_gene_variant LIRI-JP 6 99398529 99398529 single base substitution T C upstream_gene_variant LIRI-JP 6 99399146 99399146 single base substitution C T upstream_gene_variant LIRI-JP 6 99399548 99399548 single base substitution C T upstream_gene_variant LUSC-KR 6 99315641 99315641 single base substitution A G downstream_gene_variant LUSC-KR 6 99320015 99320015 single base substitution A G 3_prime_UTR_variant LUSC-KR 6 99320015 99320015 single base substitution A G downstream_gene_variant LUSC-KR 6 99330638 99330638 single base substitution T C intron_variant LUSC-KR 6 99331256 99331256 single base substitution G A intron_variant LUSC-KR 6 99331409 99331409 single base substitution A T intron_variant LUSC-KR 6 99340460 99340460 single base substitution C T intron_variant LUSC-KR 6 99343122 99343122 single base substitution G A intron_variant LUSC-KR 6 99350241 99350241 single base substitution G C intron_variant LUSC-KR 6 99359009 99359009 single base substitution C A intron_variant LUSC-KR 6 99360072 99360072 single base substitution C A intron_variant LUSC-KR 6 99360965 99360965 single base substitution C A intron_variant LUSC-KR 6 99362523 99362523 single base substitution T G intron_variant LUSC-KR 6 99363016 99363016 single base substitution C T intron_variant LUSC-KR 6 99364193 99364193 single base substitution G A intron_variant LUSC-KR 6 99364399 99364399 single base substitution T C intron_variant LUSC-KR 6 99377481 99377481 single base substitution T A intron_variant LUSC-KR 6 99386883 99386883 single base substitution C A intron_variant LUSC-US 6 99374492 99374492 single base substitution C T missense_variant D125N 373G>A MALY-DE 6 99311680 99311680 single base substitution T C downstream_gene_variant MALY-DE 6 99334162 99334163 deletion of <=200bp GA - intron_variant MALY-DE 6 99339463 99339463 single base substitution G T intron_variant MALY-DE 6 99340650 99340650 single base substitution G C intron_variant MALY-DE 6 99355823 99355823 single base substitution G C intron_variant MALY-DE 6 99362177 99362177 deletion of <=200bp C - intron_variant MALY-DE 6 99365686 99365686 single base substitution T C intron_variant MALY-DE 6 99369889 99369889 single base substitution C T intron_variant MALY-DE 6 99372060 99372060 single base substitution A C intron_variant MALY-DE 6 99390914 99390914 single base substitution C T intron_variant MALY-DE 6 99391275 99391275 single base substitution C T intron_variant MALY-DE 6 99399352 99399352 single base substitution T G upstream_gene_variant MELA-AU 6 99312575 99312575 single base substitution G A downstream_gene_variant MELA-AU 6 99312598 99312598 single base substitution T C downstream_gene_variant MELA-AU 6 99312726 99312727 deletion of <=200bp AT - downstream_gene_variant MELA-AU 6 99313232 99313232 single base substitution G A downstream_gene_variant MELA-AU 6 99313380 99313380 single base substitution T A downstream_gene_variant MELA-AU 6 99313559 99313559 single base substitution G A downstream_gene_variant MELA-AU 6 99313911 99313911 single base substitution G A downstream_gene_variant MELA-AU 6 99314374 99314374 single base substitution G A downstream_gene_variant MELA-AU 6 99316486 99316486 single base substitution G A 3_prime_UTR_variant MELA-AU 6 99317278 99317278 single base substitution G A 3_prime_UTR_variant MELA-AU 6 99317278 99317278 single base substitution G A downstream_gene_variant MELA-AU 6 99317402 99317403 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 6 99317402 99317403 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 6 99317859 99317859 single base substitution G A 3_prime_UTR_variant MELA-AU 6 99317859 99317859 single base substitution G A downstream_gene_variant MELA-AU 6 99318061 99318061 single base substitution G A 3_prime_UTR_variant MELA-AU 6 99318061 99318061 single base substitution G A downstream_gene_variant MELA-AU 6 99318220 99318220 single base substitution C G 3_prime_UTR_variant MELA-AU 6 99318220 99318220 single base substitution C G downstream_gene_variant MELA-AU 6 99318986 99318986 single base substitution G A 3_prime_UTR_variant MELA-AU 6 99318986 99318986 single base substitution G A downstream_gene_variant MELA-AU 6 99319147 99319147 single base substitution G A 3_prime_UTR_variant MELA-AU 6 99319147 99319147 single base substitution G A downstream_gene_variant MELA-AU 6 99319506 99319506 single base substitution G A 3_prime_UTR_variant MELA-AU 6 99319506 99319506 single base substitution G A downstream_gene_variant MELA-AU 6 99320168 99320168 single base substitution G A 3_prime_UTR_variant MELA-AU 6 99320168 99320168 single base substitution G A downstream_gene_variant MELA-AU 6 99322994 99322994 single base substitution G A intron_variant MELA-AU 6 99324006 99324006 single base substitution G A intron_variant MELA-AU 6 99326145 99326145 single base substitution G A intron_variant MELA-AU 6 99327453 99327453 single base substitution C T intron_variant MELA-AU 6 99327604 99327604 single base substitution T G intron_variant MELA-AU 6 99327751 99327752 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 99327794 99327794 single base substitution G A intron_variant MELA-AU 6 99328557 99328557 single base substitution A G intron_variant MELA-AU 6 99328897 99328897 single base substitution G A intron_variant MELA-AU 6 99330302 99330302 single base substitution G A intron_variant MELA-AU 6 99330917 99330917 single base substitution A T intron_variant MELA-AU 6 99331160 99331160 single base substitution C G intron_variant MELA-AU 6 99332192 99332192 single base substitution G A intron_variant MELA-AU 6 99332638 99332638 single base substitution A T intron_variant MELA-AU 6 99332879 99332879 single base substitution G A intron_variant MELA-AU 6 99332992 99332992 single base substitution T C intron_variant MELA-AU 6 99333114 99333114 single base substitution G A intron_variant MELA-AU 6 99333536 99333536 single base substitution C T intron_variant MELA-AU 6 99333699 99333699 single base substitution G A intron_variant MELA-AU 6 99333866 99333866 single base substitution G A intron_variant MELA-AU 6 99334354 99334354 single base substitution G A intron_variant MELA-AU 6 99334756 99334756 single base substitution C T intron_variant MELA-AU 6 99334957 99334957 single base substitution T A intron_variant MELA-AU 6 99335400 99335400 single base substitution C A intron_variant MELA-AU 6 99335954 99335954 single base substitution G A intron_variant MELA-AU 6 99336337 99336337 single base substitution G A intron_variant MELA-AU 6 99338147 99338147 single base substitution A T intron_variant MELA-AU 6 99338334 99338334 single base substitution G A intron_variant MELA-AU 6 99338652 99338652 single base substitution G A intron_variant MELA-AU 6 99339052 99339052 single base substitution G A intron_variant MELA-AU 6 99339387 99339387 single base substitution A C intron_variant MELA-AU 6 99339506 99339506 deletion of <=200bp T - intron_variant MELA-AU 6 99340603 99340603 single base substitution A T intron_variant MELA-AU 6 99340730 99340730 single base substitution G A intron_variant MELA-AU 6 99340864 99340864 single base substitution C T intron_variant MELA-AU 6 99341037 99341037 single base substitution G A intron_variant MELA-AU 6 99341375 99341375 single base substitution G A intron_variant MELA-AU 6 99341894 99341894 single base substitution G A intron_variant MELA-AU 6 99342900 99342900 single base substitution C T intron_variant MELA-AU 6 99343489 99343489 single base substitution C T intron_variant MELA-AU 6 99344145 99344145 single base substitution G A intron_variant MELA-AU 6 99344386 99344386 single base substitution C T intron_variant MELA-AU 6 99344419 99344419 single base substitution G A intron_variant MELA-AU 6 99344560 99344560 single base substitution G A intron_variant MELA-AU 6 99344682 99344682 single base substitution C T intron_variant MELA-AU 6 99345061 99345083 deletion of <=200bp CTCAGAGGATTTCGTTTATAGTA - intron_variant MELA-AU 6 99345501 99345502 multiple base substitution (>=2bp and <=200bp) AT TA intron_variant MELA-AU 6 99346003 99346003 single base substitution A C intron_variant MELA-AU 6 99346071 99346071 single base substitution A C intron_variant MELA-AU 6 99346485 99346485 single base substitution A C intron_variant MELA-AU 6 99346539 99346539 single base substitution G A intron_variant MELA-AU 6 99346951 99346951 single base substitution T C intron_variant MELA-AU 6 99347348 99347348 single base substitution C T synonymous_variant K371K 1113G>A MELA-AU 6 99348002 99348002 single base substitution C A intron_variant MELA-AU 6 99348067 99348067 single base substitution G A intron_variant MELA-AU 6 99348117 99348117 single base substitution G A intron_variant MELA-AU 6 99349024 99349024 single base substitution G A intron_variant MELA-AU 6 99349189 99349189 single base substitution G A intron_variant MELA-AU 6 99350755 99350755 single base substitution A C intron_variant MELA-AU 6 99351049 99351049 single base substitution G A intron_variant MELA-AU 6 99352151 99352151 single base substitution A T intron_variant MELA-AU 6 99352219 99352219 single base substitution G A intron_variant MELA-AU 6 99352499 99352517 deletion of <=200bp TTAAAAATAGAATACAAGA - intron_variant MELA-AU 6 99353271 99353271 single base substitution G A intron_variant MELA-AU 6 99353320 99353320 single base substitution G A missense_variant S362F 1085C>T MELA-AU 6 99354979 99354980 multiple base substitution (>=2bp and <=200bp) CC GT intron_variant MELA-AU 6 99355002 99355002 single base substitution A C intron_variant MELA-AU 6 99356656 99356656 single base substitution C T intron_variant MELA-AU 6 99357083 99357083 single base substitution G A intron_variant MELA-AU 6 99357731 99357731 single base substitution G A intron_variant MELA-AU 6 99357994 99357994 single base substitution A G intron_variant MELA-AU 6 99358339 99358339 single base substitution C T intron_variant MELA-AU 6 99358879 99358879 single base substitution G A intron_variant MELA-AU 6 99358935 99358935 single base substitution C T intron_variant MELA-AU 6 99358947 99358947 single base substitution G T intron_variant MELA-AU 6 99359049 99359049 single base substitution G A intron_variant MELA-AU 6 99359511 99359511 single base substitution G A intron_variant MELA-AU 6 99360000 99360000 single base substitution G A intron_variant MELA-AU 6 99360043 99360043 single base substitution G A intron_variant MELA-AU 6 99360620 99360620 single base substitution G A intron_variant MELA-AU 6 99360630 99360630 single base substitution A G intron_variant MELA-AU 6 99360723 99360723 single base substitution G A intron_variant MELA-AU 6 99361198 99361198 single base substitution G A intron_variant MELA-AU 6 99361610 99361610 single base substitution C T intron_variant MELA-AU 6 99361707 99361707 single base substitution G A intron_variant MELA-AU 6 99362097 99362097 single base substitution G A intron_variant MELA-AU 6 99362285 99362285 single base substitution A G intron_variant MELA-AU 6 99362394 99362394 single base substitution G A intron_variant MELA-AU 6 99364544 99364544 single base substitution T A intron_variant MELA-AU 6 99365295 99365295 single base substitution G A synonymous_variant L271L 813C>T MELA-AU 6 99365298 99365298 single base substitution G A synonymous_variant V270V 810C>T MELA-AU 6 99366932 99366932 single base substitution A T intron_variant MELA-AU 6 99366940 99366940 single base substitution G T intron_variant MELA-AU 6 99367138 99367138 single base substitution G A intron_variant MELA-AU 6 99367260 99367260 single base substitution C T intron_variant MELA-AU 6 99367437 99367437 single base substitution G A intron_variant MELA-AU 6 99367903 99367903 single base substitution G A intron_variant MELA-AU 6 99369447 99369447 single base substitution A G intron_variant MELA-AU 6 99369907 99369907 single base substitution G A intron_variant MELA-AU 6 99370072 99370072 single base substitution G A intron_variant MELA-AU 6 99370156 99370156 single base substitution C T intron_variant MELA-AU 6 99370254 99370254 single base substitution G A intron_variant MELA-AU 6 99371083 99371083 single base substitution A C intron_variant MELA-AU 6 99371100 99371100 single base substitution G A intron_variant MELA-AU 6 99371232 99371232 single base substitution G A intron_variant MELA-AU 6 99372412 99372412 single base substitution G A intron_variant MELA-AU 6 99372991 99372991 single base substitution G A intron_variant MELA-AU 6 99372992 99372992 single base substitution G A intron_variant MELA-AU 6 99373467 99373467 single base substitution G A intron_variant MELA-AU 6 99373554 99373554 single base substitution G A intron_variant MELA-AU 6 99374228 99374228 single base substitution G A intron_variant MELA-AU 6 99374995 99374995 single base substitution G A intron_variant MELA-AU 6 99375143 99375143 single base substitution G A intron_variant MELA-AU 6 99375752 99375752 single base substitution A G intron_variant MELA-AU 6 99376426 99376426 single base substitution G A intron_variant MELA-AU 6 99376651 99376651 single base substitution G A intron_variant MELA-AU 6 99378246 99378246 single base substitution G A intron_variant MELA-AU 6 99378437 99378457 deletion of <=200bp TACCTGTTATATTACTTCTTT - intron_variant MELA-AU 6 99378498 99378498 single base substitution T A intron_variant MELA-AU 6 99378851 99378851 single base substitution T C intron_variant MELA-AU 6 99380065 99380065 single base substitution C T intron_variant MELA-AU 6 99380142 99380142 single base substitution G A intron_variant MELA-AU 6 99380944 99380944 single base substitution G A intron_variant MELA-AU 6 99381897 99381897 single base substitution T C intron_variant MELA-AU 6 99382183 99382183 single base substitution G A intron_variant MELA-AU 6 99382594 99382594 single base substitution A G intron_variant MELA-AU 6 99384359 99384359 single base substitution G A intron_variant MELA-AU 6 99384946 99384946 single base substitution G A intron_variant MELA-AU 6 99385385 99385385 single base substitution G A intron_variant MELA-AU 6 99385467 99385467 single base substitution C T intron_variant MELA-AU 6 99386878 99386878 single base substitution G A intron_variant MELA-AU 6 99387047 99387047 single base substitution G A intron_variant MELA-AU 6 99387773 99387773 single base substitution G T intron_variant MELA-AU 6 99390474 99390474 single base substitution G A intron_variant MELA-AU 6 99390929 99390929 single base substitution G A intron_variant MELA-AU 6 99392073 99392074 deletion of <=200bp CA - intron_variant MELA-AU 6 99392900 99392900 single base substitution A G intron_variant MELA-AU 6 99393099 99393099 single base substitution G A intron_variant MELA-AU 6 99393408 99393408 single base substitution G A intron_variant MELA-AU 6 99393547 99393547 single base substitution T C intron_variant MELA-AU 6 99394048 99394048 single base substitution G A intron_variant MELA-AU 6 99394490 99394490 single base substitution C T intron_variant MELA-AU 6 99396113 99396114 deletion of <=200bp TT - upstream_gene_variant MELA-AU 6 99396534 99396534 single base substitution C T upstream_gene_variant MELA-AU 6 99396630 99396630 single base substitution G A upstream_gene_variant MELA-AU 6 99396953 99396953 single base substitution A G upstream_gene_variant MELA-AU 6 99397362 99397362 single base substitution C T upstream_gene_variant MELA-AU 6 99398274 99398275 multiple base substitution (>=2bp and <=200bp) TC AT upstream_gene_variant MELA-AU 6 99398572 99398572 single base substitution C T upstream_gene_variant MELA-AU 6 99398601 99398601 single base substitution C T upstream_gene_variant MELA-AU 6 99398610 99398610 single base substitution G A upstream_gene_variant MELA-AU 6 99398721 99398721 single base substitution C T upstream_gene_variant MELA-AU 6 99398957 99398957 single base substitution C A upstream_gene_variant MELA-AU 6 99399079 99399079 single base substitution T C upstream_gene_variant MELA-AU 6 99399178 99399178 single base substitution G A upstream_gene_variant MELA-AU 6 99399341 99399341 single base substitution G A upstream_gene_variant MELA-AU 6 99399460 99399460 single base substitution C T upstream_gene_variant MELA-AU 6 99399814 99399814 single base substitution T C upstream_gene_variant MELA-AU 6 99399842 99399842 single base substitution C T upstream_gene_variant MELA-AU 6 99400008 99400008 single base substitution G A upstream_gene_variant ORCA-IN 6 99346376 99346376 single base substitution G C intron_variant ORCA-IN 6 99374399 99374399 single base substitution C T missense_variant A156T 466G>A ORCA-IN 6 99384317 99384317 single base substitution C A intron_variant ORCA-IN 6 99391376 99391376 single base substitution G C intron_variant OV-AU 6 99320890 99320890 single base substitution T G 3_prime_UTR_variant OV-AU 6 99320890 99320890 single base substitution T G downstream_gene_variant OV-AU 6 99322727 99322727 single base substitution T G intron_variant OV-AU 6 99326521 99326521 single base substitution A G intron_variant OV-AU 6 99328526 99328526 single base substitution C G intron_variant OV-AU 6 99330643 99330643 single base substitution C A intron_variant OV-AU 6 99334475 99334475 single base substitution C T intron_variant OV-AU 6 99336656 99336656 single base substitution G T intron_variant OV-AU 6 99340818 99340818 single base substitution G T intron_variant OV-AU 6 99342392 99342392 single base substitution C G intron_variant OV-AU 6 99345869 99345869 single base substitution T C intron_variant OV-AU 6 99348168 99348168 single base substitution C A intron_variant OV-AU 6 99348294 99348294 single base substitution A G intron_variant OV-AU 6 99351016 99351016 single base substitution A G intron_variant OV-AU 6 99353273 99353273 single base substitution A G intron_variant OV-AU 6 99359783 99359783 single base substitution C A intron_variant OV-AU 6 99359991 99359991 single base substitution A C intron_variant OV-AU 6 99372231 99372231 single base substitution G C intron_variant OV-AU 6 99376497 99376497 single base substitution C T intron_variant OV-AU 6 99380775 99380775 single base substitution A T intron_variant OV-AU 6 99382261 99382261 single base substitution T G intron_variant OV-AU 6 99382297 99382297 single base substitution G C intron_variant OV-AU 6 99389499 99389499 single base substitution G T intron_variant OV-AU 6 99391335 99391335 single base substitution G A intron_variant OV-AU 6 99395502 99395502 single base substitution G A intron_variant OV-AU 6 99399106 99399106 single base substitution G A upstream_gene_variant OV-AU 6 99399107 99399107 single base substitution C T upstream_gene_variant OV-AU 6 99399639 99399639 single base substitution T A upstream_gene_variant OV-AU 6 99399910 99399910 single base substitution T G upstream_gene_variant PACA-AU 6 99316399 99316399 single base substitution T C downstream_gene_variant PACA-AU 6 99317928 99317931 deletion of <=200bp AACA - 3_prime_UTR_variant PACA-AU 6 99317928 99317931 deletion of <=200bp AACA - downstream_gene_variant PACA-AU 6 99321219 99321219 single base substitution A T 3_prime_UTR_variant PACA-AU 6 99321219 99321219 single base substitution A T downstream_gene_variant PACA-AU 6 99322232 99322232 single base substitution C T synonymous_variant S596S 1788G>A PACA-AU 6 99325409 99325409 single base substitution T C intron_variant PACA-AU 6 99327484 99327484 single base substitution C T intron_variant PACA-AU 6 99327496 99327496 single base substitution C T intron_variant PACA-AU 6 99333190 99333190 single base substitution A T intron_variant PACA-AU 6 99337464 99337464 single base substitution G C intron_variant PACA-AU 6 99345030 99345030 single base substitution A C intron_variant PACA-AU 6 99347397 99347397 single base substitution A C intron_variant PACA-AU 6 99357754 99357754 single base substitution G A intron_variant PACA-AU 6 99359665 99359665 single base substitution G A intron_variant PACA-AU 6 99359756 99359756 single base substitution G T intron_variant PACA-AU 6 99364735 99364735 single base substitution A T intron_variant PACA-AU 6 99377736 99377736 single base substitution A C intron_variant PACA-AU 6 99378140 99378140 single base substitution A G intron_variant PACA-AU 6 99378744 99378744 single base substitution G C intron_variant PACA-AU 6 99380965 99380965 single base substitution C G intron_variant PACA-AU 6 99381232 99381232 single base substitution G T intron_variant PACA-AU 6 99386850 99386850 single base substitution G C intron_variant PACA-AU 6 99395526 99395526 single base substitution G C intron_variant PACA-AU 6 99396745 99396745 deletion of <=200bp T - upstream_gene_variant PACA-AU 6 99398297 99398297 single base substitution C G upstream_gene_variant PACA-CA 6 99312395 99312395 deletion of <=200bp T - downstream_gene_variant PACA-CA 6 99314142 99314142 single base substitution G C downstream_gene_variant PACA-CA 6 99319446 99319446 single base substitution G T 3_prime_UTR_variant PACA-CA 6 99319446 99319446 single base substitution G T downstream_gene_variant PACA-CA 6 99322930 99322930 insertion of <=200bp - A intron_variant PACA-CA 6 99323881 99323881 single base substitution G A intron_variant PACA-CA 6 99327298 99327298 single base substitution G A intron_variant PACA-CA 6 99331899 99331899 single base substitution A T intron_variant PACA-CA 6 99331961 99331961 single base substitution T A intron_variant PACA-CA 6 99332153 99332153 single base substitution A T intron_variant PACA-CA 6 99333400 99333400 insertion of <=200bp - A intron_variant PACA-CA 6 99335495 99335495 single base substitution T C intron_variant PACA-CA 6 99339213 99339213 single base substitution T C intron_variant PACA-CA 6 99339776 99339776 single base substitution A G intron_variant PACA-CA 6 99340088 99340088 single base substitution C G intron_variant PACA-CA 6 99340978 99340978 single base substitution C T intron_variant PACA-CA 6 99341877 99341877 single base substitution C T intron_variant PACA-CA 6 99347706 99347706 single base substitution C T intron_variant PACA-CA 6 99350977 99350977 single base substitution A G intron_variant PACA-CA 6 99351156 99351156 single base substitution T C intron_variant PACA-CA 6 99352467 99352467 single base substitution G A intron_variant PACA-CA 6 99352624 99352624 single base substitution C A intron_variant PACA-CA 6 99353189 99353189 insertion of <=200bp - T intron_variant PACA-CA 6 99353272 99353272 single base substitution A G intron_variant PACA-CA 6 99353858 99353858 single base substitution C T intron_variant PACA-CA 6 99358543 99358543 single base substitution A G intron_variant PACA-CA 6 99365166 99365166 single base substitution C G intron_variant PACA-CA 6 99372187 99372187 single base substitution C G intron_variant PACA-CA 6 99372800 99372800 single base substitution G C intron_variant PACA-CA 6 99373127 99373127 single base substitution C G intron_variant PACA-CA 6 99373823 99373823 single base substitution G T intron_variant PACA-CA 6 99374164 99374164 single base substitution A G intron_variant PACA-CA 6 99378314 99378314 single base substitution A T intron_variant PACA-CA 6 99382387 99382387 single base substitution C G intron_variant PACA-CA 6 99385418 99385419 deletion of <=200bp TC - intron_variant PACA-CA 6 99385449 99385449 single base substitution G T intron_variant PACA-CA 6 99387052 99387055 deletion of <=200bp GAGA - intron_variant PACA-CA 6 99389735 99389735 insertion of <=200bp - T intron_variant PACA-CA 6 99389743 99389743 single base substitution T A intron_variant PACA-CA 6 99399436 99399436 single base substitution T A upstream_gene_variant PAEN-AU 6 99363231 99363231 single base substitution T A intron_variant PAEN-IT 6 99315421 99315421 single base substitution A G downstream_gene_variant PAEN-IT 6 99315426 99315426 single base substitution A T downstream_gene_variant PAEN-IT 6 99354325 99354325 single base substitution G T intron_variant PAEN-IT 6 99368440 99368440 single base substitution T G intron_variant PAEN-IT 6 99368920 99368920 single base substitution T C intron_variant PAEN-IT 6 99372950 99372950 single base substitution T C intron_variant PAEN-IT 6 99381256 99381256 single base substitution C T intron_variant PAEN-IT 6 99392788 99392788 single base substitution C T intron_variant PBCA-DE 6 99313083 99313084 deletion of <=200bp TA - downstream_gene_variant PBCA-DE 6 99322999 99322999 single base substitution C T intron_variant PBCA-DE 6 99332235 99332235 single base substitution A C intron_variant PBCA-DE 6 99332447 99332447 single base substitution T C intron_variant PBCA-DE 6 99335563 99335563 single base substitution T G intron_variant PBCA-DE 6 99341696 99341696 single base substitution C T intron_variant PBCA-DE 6 99347712 99347712 single base substitution T C intron_variant PBCA-DE 6 99375111 99375111 single base substitution A T intron_variant PBCA-DE 6 99383672 99383672 deletion of <=200bp A - intron_variant PBCA-DE 6 99386627 99386627 insertion of <=200bp - T intron_variant PBCA-DE 6 99395750 99395750 single base substitution G T 5_prime_UTR_variant PBCA-DE 6 99396979 99396979 single base substitution T A upstream_gene_variant PBCA-DE 6 99397262 99397262 single base substitution G C upstream_gene_variant PRAD-CA 6 99316431 99316431 single base substitution T C 3_prime_UTR_variant PRAD-CA 6 99322007 99322007 single base substitution G A 3_prime_UTR_variant PRAD-CA 6 99332122 99332122 single base substitution A C intron_variant PRAD-CA 6 99343836 99343836 single base substitution T G intron_variant PRAD-CA 6 99358544 99358544 single base substitution G A intron_variant PRAD-CA 6 99389743 99389743 single base substitution T A intron_variant PRAD-CA 6 99392995 99392995 single base substitution T C intron_variant PRAD-CA 6 99396130 99396130 single base substitution C A upstream_gene_variant PRAD-UK 6 99338814 99338814 deletion of <=200bp A - intron_variant PRAD-UK 6 99347684 99347684 insertion of <=200bp - A intron_variant PRAD-UK 6 99358828 99358828 single base substitution A G intron_variant PRAD-UK 6 99375633 99375633 single base substitution A G 5_prime_UTR_variant PRAD-UK 6 99390533 99390533 single base substitution T A intron_variant PRAD-UK 6 99391698 99391698 insertion of <=200bp - A intron_variant PRAD-UK 6 99396002 99396002 single base substitution G A upstream_gene_variant PRAD-US 6 99323344 99323344 single base substitution T G missense_variant D550A 1649A>C READ-US 6 99322207 99322207 single base substitution C A stop_gained E605* 1813G>T READ-US 6 99323369 99323369 single base substitution C A missense_variant A542S 1624G>T READ-US 6 99347172 99347172 single base substitution C T missense_variant R430Q 1289G>A READ-US 6 99374572 99374572 single base substitution C T missense_variant R98Q 293G>A RECA-EU 6 99323314 99323314 single base substitution C G missense_variant R560T 1679G>C RECA-EU 6 99326511 99326511 single base substitution A G intron_variant RECA-EU 6 99328373 99328373 single base substitution T C intron_variant RECA-EU 6 99332974 99332974 single base substitution T A intron_variant RECA-EU 6 99334430 99334430 single base substitution T C intron_variant RECA-EU 6 99342355 99342355 single base substitution A T intron_variant RECA-EU 6 99350237 99350237 single base substitution A C intron_variant RECA-EU 6 99361353 99361353 single base substitution A C intron_variant RECA-EU 6 99369527 99369527 single base substitution G T intron_variant RECA-EU 6 99375117 99375117 single base substitution C G intron_variant RECA-EU 6 99375318 99375318 single base substitution G C intron_variant RECA-EU 6 99375622 99375622 single base substitution A C 5_prime_UTR_variant RECA-EU 6 99395179 99395179 single base substitution G A intron_variant SKCA-BR 6 99314639 99314639 single base substitution G A downstream_gene_variant SKCA-BR 6 99314857 99314857 single base substitution G C downstream_gene_variant SKCA-BR 6 99314891 99314891 single base substitution T C downstream_gene_variant SKCA-BR 6 99315270 99315270 single base substitution G A downstream_gene_variant SKCA-BR 6 99316263 99316263 insertion of <=200bp - GA downstream_gene_variant SKCA-BR 6 99316280 99316280 single base substitution G A downstream_gene_variant SKCA-BR 6 99317637 99317637 single base substitution G A 3_prime_UTR_variant SKCA-BR 6 99317637 99317637 single base substitution G A downstream_gene_variant SKCA-BR 6 99319534 99319534 single base substitution T A 3_prime_UTR_variant SKCA-BR 6 99319534 99319534 single base substitution T A downstream_gene_variant SKCA-BR 6 99327110 99327110 single base substitution C T intron_variant SKCA-BR 6 99327566 99327596 deletion of <=200bp ACCCAATATGGTGAAACCCAAGACCAGCCTG - intron_variant SKCA-BR 6 99327597 99327597 single base substitution C A intron_variant SKCA-BR 6 99327598 99327598 single base substitution C T intron_variant SKCA-BR 6 99337248 99337248 single base substitution T C intron_variant SKCA-BR 6 99337574 99337574 single base substitution C A intron_variant SKCA-BR 6 99337990 99337990 single base substitution A G intron_variant SKCA-BR 6 99340744 99340744 single base substitution A G intron_variant SKCA-BR 6 99345198 99345198 single base substitution G A intron_variant SKCA-BR 6 99350357 99350357 single base substitution A T intron_variant SKCA-BR 6 99352419 99352419 single base substitution G A intron_variant SKCA-BR 6 99354600 99354600 single base substitution C G intron_variant SKCA-BR 6 99358692 99358692 single base substitution G A intron_variant SKCA-BR 6 99358909 99358924 deletion of <=200bp ACCTGGCTCGGAGGGT - intron_variant SKCA-BR 6 99359295 99359295 single base substitution G A intron_variant SKCA-BR 6 99360276 99360276 single base substitution G A intron_variant SKCA-BR 6 99367397 99367397 single base substitution T G intron_variant SKCA-BR 6 99367812 99367812 single base substitution C T intron_variant SKCA-BR 6 99375103 99375103 single base substitution G A intron_variant SKCA-BR 6 99378387 99378387 single base substitution A T intron_variant SKCA-BR 6 99383671 99383671 insertion of <=200bp - CAAAAAAA intron_variant SKCA-BR 6 99385917 99385917 insertion of <=200bp - CTTTT intron_variant SKCA-BR 6 99385917 99385919 deletion of <=200bp CTT - intron_variant SKCA-BR 6 99386626 99386626 insertion of <=200bp - AT intron_variant SKCA-BR 6 99395229 99395229 single base substitution A G intron_variant SKCA-BR 6 99396640 99396640 single base substitution A G upstream_gene_variant SKCA-BR 6 99398201 99398201 single base substitution C T upstream_gene_variant SKCM-US 6 99322293 99322293 single base substitution G A missense_variant S576F 1727C>T SKCM-US 6 99347336 99347336 single base substitution G A synonymous_variant S375S 1125C>T SKCM-US 6 99353320 99353320 single base substitution G A missense_variant S362F 1085C>T SKCM-US 6 99365508 99365508 single base substitution G A synonymous_variant F200F 600C>T SKCM-US 6 99365585 99365585 single base substitution G A missense_variant L175F 523C>T STAD-US 6 99328484 99328484 single base substitution C T missense_variant S445N 1334G>A STAD-US 6 99374803 99374803 single base substitution C T missense_variant R21H 62G>A STAD-US 6 99374939 99374939 deletion of <=200bp A - splice_region_variant UCEC-US 6 99322298 99322298 single base substitution C A synonymous_variant P574P 1722G>T UCEC-US 6 99323413 99323413 single base substitution C T missense_variant R527K 1580G>A UCEC-US 6 99323521 99323521 single base substitution T G missense_variant N491T 1472A>C UCEC-US 6 99323582 99323582 single base substitution C T missense_variant A471T 1411G>A UCEC-US 6 99353373 99353373 single base substitution G A synonymous_variant C344C 1032C>T UCEC-US 6 99374458 99374458 single base substitution T A missense_variant Y136F 407A>T UCEC-US 6 99374514 99374514 single base substitution C T synonymous_variant T117T 351G>A UCEC-US 6 99374515 99374515 single base substitution G A missense_variant T117M 350C>T UCEC-US 6 99374572 99374572 single base substitution C T missense_variant R98Q 293G>A UCEC-US 6 99374767 99374767 single base substitution T G missense_variant N33T 98A>C

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand CSCC-11-T COSM4563928 c.997G>A p.D333N Substitution - Missense 6:98905532-98905532 - 61 COSM5737705 c.445G>A p.G149R Substitution - Missense 6:98926544-98926544 - RK214_C01 COSM3745416 c.61C>A p.R21S Substitution - Missense 6:98926928-98926928 - TCGA-EI-6917-01 COSM3430971 c.1813G>T p.E605* Substitution - Nonsense 6:98874331-98874331 - TCGA-AP-A059-01 COSM1082774 c.1032C>T p.C344C Substitution - coding silent 6:98905497-98905497 - TCGA-F5-6814-01 COSM3430972 c.1624G>T p.A542S Substitution - Missense 6:98875493-98875493 - CSCC-27-T COSM4474182 c.18C>T p.P6P Substitution - coding silent 6:98926971-98926971 - TCGA-AC-A23H-01 COSM3831268 c.1352C>T p.S451L Substitution - Missense 6:98880590-98880590 - TCGA-BR-8680-01 COSM3876275 c.62G>A p.R21H Substitution - Missense 6:98926927-98926927 - TCGA-LG-A6GG-01 COSM4939496 c.169G>T p.E57* Substitution - Nonsense 6:98926820-98926820 - LUAD-B01102 COSM333193 c.895G>A p.D299N Substitution - Missense 6:98905634-98905634 - 8067508 COSM3179276 c.1788G>A p.S596S Substitution - coding silent 6:98874356-98874356 - TCGA-AZ-4315-01 COSM1446565 c.1126G>A p.E376K Substitution - Missense 6:98899459-98899459 - TCGA-CA-6717-01 COSM3698012 c.711G>T p.K237N Substitution - Missense 6:98917521-98917521 - TCGA-D1-A0ZO-01 COSM1082776 c.407A>T p.Y136F Substitution - Missense 6:98926582-98926582 - TCGA-B5-A0JY-01 COSM1082779 c.293G>A p.R98Q Substitution - Missense 6:98926696-98926696 - CSCC-41-T COSM4465358 c.137C>T p.P46L Substitution - Missense 6:98926852-98926852 - SNU-175 COSM3079956 c.158A>G p.Q53R Substitution - Missense 6:98926831-98926831 - RK237_C01 COSM4779739 c.742G>T p.D248Y Substitution - Missense 6:98917490-98917490 - ATL013 COSM5710266 c.410C>T p.P137L Substitution - Missense 6:98926579-98926579 - 029T COSM1728321 c.668T>C p.V223A Substitution - Missense 6:98917564-98917564 - LUAD-RT-S01774 COSM381585 c.583A>G p.I195V Substitution - Missense 6:98917649-98917649 - TCGA-EE-A2GC-06 COSM3630711 c.1727C>T p.S576F Substitution - Missense 6:98874417-98874417 - CSCC-27-T COSM4457503 c.1048C>T p.L350F Substitution - Missense 6:98905481-98905481 - TCGA-G3-A3CJ-01 COSM4914736 c.1360C>A p.Q454K Substitution - Missense 6:98880582-98880582 - TCGA-EE-A2M5-06 COSM3630715 c.1085C>T p.S362F Substitution - Missense 6:98905444-98905444 - TCGA-D9-A148-06 COSM3630716 c.523C>T p.L175F Substitution - Missense 6:98917709-98917709 - 722_T COSM3949566 c.1419G>C p.M473I Substitution - Missense 6:98875698-98875698 - HCC61T COSM1622054 c.1318-15_1318-10delGGTCCC p.? Unknown 6:98880634-98880639 - ESCC_BICR_071T COSM5433528 c.736A>G p.I246V Substitution - Missense 6:98917496-98917496 - TCGA-CH-5751-01 COSM1131778 c.1649A>C p.D550A Substitution - Missense 6:98875468-98875468 - ESO-720 COSM1252243 c.1103G>A p.R368K Substitution - Missense 6:98905426-98905426 - HCC2998 COSM1446565 c.1126G>A p.E376K Substitution - Missense 6:98899459-98899459 - TCGA-D1-A176-01 COSM1082775 c.558C>A p.S186S Substitution - coding silent 6:98917674-98917674 - 407 COSM4430322 c.938A>T p.H313L Substitution - Missense 6:98905591-98905591 - BD124T COSM5492122 c.323C>A p.P108H Substitution - Missense 6:98926666-98926666 - TCGA-D1-A17M-01 COSM1082778 c.350C>T p.T117M Substitution - Missense 6:98926639-98926639 - 2492708 COSM5717333 c.277C>T p.Q93* Substitution - Nonsense 6:98926712-98926712 - P150 COSM1737347 c.998A>G p.D333G Substitution - Missense 6:98905531-98905531 - 587376 COSM1206782 c.1787C>T p.S596L Substitution - Missense 6:98874357-98874357 - COLO-829 COSM36787 c.1575C>T p.F525F Substitution - coding silent 6:98875542-98875542 - PT46 COSM5928803 c.716C>T p.S239L Substitution - Missense 6:98917516-98917516 - WA33 COSM239842 c.217T>C p.Y73H Substitution - Missense 6:98926772-98926772 - C135 COSM3079957 c.64C>T p.R22* Substitution - Nonsense 6:98926925-98926925 - WA33 COSM239843 c.215C>A p.S72Y Substitution - Missense 6:98926774-98926774 - sysucc-1397T COSM5474978 c.1362G>T p.Q454H Substitution - Missense 6:98880580-98880580 - PD8612a COSM5785702 c.125G>A p.S42N Substitution - Missense 6:98926864-98926864 - 587376 COSM1082779 c.293G>A p.R98Q Substitution - Missense 6:98926696-98926696 - ESCC_103 COSM5638279 c.1795G>A p.D599N Substitution - Missense 6:98874349-98874349 - CSB1 COSM5026603 c.1782C>G p.F594L Substitution - Missense 6:98874362-98874362 - TCGA-D5-6538-01 COSM333193 c.895G>A p.D299N Substitution - Missense 6:98905634-98905634 - TCGA-IR-A3LH-01 COSM4833097 c.1226C>T p.S409F Substitution - Missense 6:98899359-98899359 - sysucc-311T COSM5466948 c.1438A>C p.K480Q Substitution - Missense 6:98875679-98875679 - TCGA-D1-A17Q-01 COSM1082779 c.293G>A p.R98Q Substitution - Missense 6:98926696-98926696 - CPCG0103-P6 COSM3396661 c.241G>T p.V81L Substitution - Missense 6:98926748-98926748 - Pat_26_A COSM5871270 c.1754_1755delAA p.K585fs*6 Deletion - Frameshift 6:98874389-98874390 - TCGA-29-1699-01 COSM1329502 c.1854C>T p.S618S Substitution - coding silent 6:98874290-98874290 - 21 COSM5732290 c.1558A>C p.S520R Substitution - Missense 6:98875559-98875559 - TCGA-B6-A0I6-01 COSM3831269 c.690C>A p.D230E Substitution - Missense 6:98917542-98917542 - LUAD-5V8LT COSM402809 c.202G>C p.E68Q Substitution - Missense 6:98926787-98926787 - sysucc-311T COSM1082779 c.293G>A p.R98Q Substitution - Missense 6:98926696-98926696 - TCGA-A6-6780-01 COSM1446563 c.1585G>A p.A529T Substitution - Missense 6:98875532-98875532 - 31T COSM3715584 c.466G>A p.A156T Substitution - Missense 6:98926523-98926523 - TCGA-AM-5820-01 COSM3762231 c.1569G>A p.G523G Substitution - coding silent 6:98875548-98875548 - CSCC-49-T COSM4497039 c.488C>T p.S163F Substitution - Missense 6:98926501-98926501 - 2492710 COSM5717333 c.277C>T p.Q93* Substitution - Nonsense 6:98926712-98926712 - TCGA-EK-A3GK-01 COSM4854312 c.532G>C p.E178Q Substitution - Missense 6:98917700-98917700 - pfg019T COSM1643182 c.1653T>C p.I551I Substitution - coding silent 6:98875464-98875464 - TCGA-AX-A0J0-01 COSM1082780 c.98A>C p.N33T Substitution - Missense 6:98926891-98926891 - 61 COSM5737704 c.1715T>C p.V572A Substitution - Missense 6:98874429-98874429 - LUAD-RT-S01777 COSM382428 c.766G>T p.G256C Substitution - Missense 6:98917466-98917466 - TCGA-A5-A0GW-01 COSM1082781 c.61C>T p.R21C Substitution - Missense 6:98926928-98926928 - CHC303T COSM4950544 c.929_933delTGAGC p.L310fs*5 Deletion - Frameshift 6:98905596-98905600 - TCGA-D1-A103-01 COSM1082770 c.1580G>A p.R527K Substitution - Missense 6:98875537-98875537 - CHC303T COSM4950544 c.929_933delTGAGC p.L310fs*5 Deletion - Frameshift 6:98905596-98905600 - HDC101 COSM3079957 c.64C>T p.R22* Substitution - Nonsense 6:98926925-98926925 - TCGA-EP-A26S-01 COSM4913535 c.1748C>A p.S583Y Substitution - Missense 6:98874396-98874396 - TCGA-B5-A11E-01 COSM1082777 c.351G>A p.T117T Substitution - coding silent 6:98926638-98926638 - HCC47T COSM381585 c.583A>G p.I195V Substitution - Missense 6:98917649-98917649 - TCGA-EE-A2GC-06 COSM3630714 c.1125C>T p.S375S Substitution - coding silent 6:98899460-98899460 - PD13760a COSM5786841 c.890T>C p.L297P Substitution - Missense 6:98905639-98905639 - TCGA-G4-6628-01 COSM1446566 c.750C>A p.A250A Substitution - coding silent 6:98917482-98917482 - HCC47 COSM381585 c.583A>G p.I195V Substitution - Missense 6:98917649-98917649 - TCGA-F4-6703-01 COSM1446567 c.453C>T p.V151V Substitution - coding silent 6:98926536-98926536 - COLO-829 COSM36787 c.1575C>T p.F525F Substitution - coding silent 6:98875542-98875542 - CRC-02T COSM5455524 c.610C>A p.L204I Substitution - Missense 6:98917622-98917622 - TCGA-BS-A0UF-01 COSM1082771 c.1472A>C p.N491T Substitution - Missense 6:98875645-98875645 - TCGA-D8-A147-01 COSM451958 c.416C>G p.A139G Substitution - Missense 6:98926573-98926573 - CSCC-11-T COSM4472215 c.1768C>T p.L590F Substitution - Missense 6:98874376-98874376 - sysucc-1188T COSM5480059 c.306A>T p.T102T Substitution - coding silent 6:98926683-98926683 - TCGA-BG-A0MU-01 COSM1082769 c.1722G>T p.P574P Substitution - coding silent 6:98874422-98874422 - 019T COSM1727954 c.440A>G p.H147R Substitution - Missense 6:98926549-98926549 - A7 COSM5351339 c.1703-2A>G p.? Unknown 6:98874443-98874443 - 2492709 COSM5717333 c.277C>T p.Q93* Substitution - Nonsense 6:98926712-98926712 - C0096T COSM4155329 c.1679G>C p.R560T Substitution - Missense 6:98875438-98875438 - OSCC-GB_00310111 COSM3715584 c.466G>A p.A156T Substitution - Missense 6:98926523-98926523 - TCGA-BP-4989-01 COSM484476 c.852T>G p.P284P Substitution - coding silent 6:98917380-98917380 - TCGA-CG-5721-01 COSM3876274 c.1334G>A p.S445N Substitution - Missense 6:98880608-98880608 - S02245 COSM5678615 c.1733G>T p.R578I Substitution - Missense 6:98874411-98874411 - TCGA-B5-A11N-01 COSM1082772 c.1411G>A p.A471T Substitution - Missense 6:98875706-98875706 - TCGA-EI-6917-01 COSM1082779 c.293G>A p.R98Q Substitution - Missense 6:98926696-98926696 - sysucc-311T COSM5466949 c.759A>C p.E253D Substitution - Missense 6:98917473-98917473 - 3N45-VS-3T45 COSM3630716 c.523C>T p.L175F Substitution - Missense 6:98917709-98917709 - TCGA-66-2773-01 COSM743748 c.373G>A p.D125N Substitution - Missense 6:98926616-98926616 - TCGA-BF-A3DM-01 COSM3922276 c.600C>T p.F200F Substitution - coding silent 6:98917632-98917632 - TCGA-DD-A39Z-01 COSM4915976 c.455T>G p.I152S Substitution - Missense 6:98926534-98926534 - TCGA-AD-6895-01 COSM1082777 c.351G>A p.T117T Substitution - coding silent 6:98926638-98926638 - MD-285 COSM302209 c.803G>C p.S268T Substitution - Missense 6:98917429-98917429 - TCGA-AN-A0FJ-01 COSM451957 c.1775T>C p.V592A Substitution - Missense 6:98874369-98874369 - MO_1249 COSM5560943 c.971A>G p.N324S Substitution - Missense 6:98905558-98905558 - T55 COSM4683892 c.1752T>C p.C584C Substitution - coding silent 6:98874392-98874392 - sysucc-1317T COSM5450302 c.954G>A p.L318L Substitution - coding silent 6:98905575-98905575 - TCGA-EI-6917-01 COSM3430973 c.1289G>A p.R430Q Substitution - Missense 6:98899296-98899296 - SC_9043 COSM1082777 c.351G>A p.T117T Substitution - coding silent 6:98926638-98926638 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.536831;Hs.536846;Hs.536850 6q16.1-q16.3 605654 257796|dbSNP|BC055010|A/C|non-coding||200|Validated; 257796|dbSNP|BC091484|A/C|non-coding||299|Validated; 1218748|dbSNP|BC055010|A/C|non-coding||200|Validated; 1218748|dbSNP|BC091484|A/C|non-coding||299|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C 5-UTRSNV . c.1-756T>G 6 99375620 HC A C 5-UTRSNV . c.1-757T>G 6 99375621 HC AC - Frameshift p.S261Tfs*2 c.782_783delGT 6 99365325 RCCC A C Synonymous p.P284P c.852T>G 6 99365256 RCCC A - Frameshift p.N263Tfs*28 c.786delT 6 99365322 RCCC A G Missense p.V592A c.1775T>C 6 99322245 BRCA A G Synonymous p.I551I c.1653T>C 6 99323340 STAD C A Missense p.A79S c.235G>T 6 99374630 LUAD C A Synonymous p.P574P c.1722G>T 6 99322298 UCEC C T Missense p.D125N c.373G>A 6 99374492 LUSC C T Missense p.R368K c.1103G>A 6 99353302 ESCA GA AG Missense p.P166S c.495_496delinsCT 6 99374369 CM G A Missense p.L175F c.523C>T 6 99365585 CM G A Missense p.R21C c.61C>T 6 99374804 STAD G A Missense p.S362F c.1085C>T 6 99353320 CM G A Missense p.S576F c.1727C>T 6 99322293 CM G A Missense p.T117M c.350C>T 6 99374515 UCEC G A Synonymous p.C426C c.1278C>T 6 99347183 HNSC G A Synonymous p.F200F c.600C>T 6 99365508 CM G A Synonymous p.L318L c.952C>T 6 99353453 HNSC G A Synonymous p.S375S c.1125C>T 6 99347336 CM G C Missense p.A139G c.416C>G 6 99374449 BRCA G C Missense p.F594L c.1782C>G 6 99322238 BRCA G C Missense p.L433V c.1297C>G 6 99347164 ALL G C Missense p.T12S c.35C>G 6 99374830 HNSC G T 5-UTRSNV . c.1-54C>A 6 99374918 CM T A Missense p.Y136F c.407A>T 6 99374458 UCEC T G Missense p.D550A c.1649A>C 6 99323344 PRAD T G Missense p.Q563P c.1688A>C 6 99323305 LUAD