Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 1 27627876 27627876 + Silent SNP G G A TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chr1:27627876G>A c.1392G>A c.(1390-1392)ccG>ccA p.P464P BLCA 1 27614209 27614209 + Silent SNP C C T TCGA-FD-A62O-01A-11D-A30E-08 TCGA-FD-A62O-10A-01D-A30H-08 g.chr1:27614209C>T c.336C>T c.(334-336)gcC>gcT p.A112A BLCA 1 27614352 27614352 + Splice_Site SNP G G A TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 g.chr1:27614352G>A c.479G>A c.(478-480)cGc>cAc p.R160H BLCA 1 27622834 27622834 + Missense_Mutation SNP G G C TCGA-4Z-AA7Q-01A-11D-A391-08 TCGA-4Z-AA7Q-10A-01D-A394-08 g.chr1:27622834G>C c.891G>C c.(889-891)ttG>ttC p.L297F BLCA 1 27623546 27623546 + Missense_Mutation SNP G G C TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 g.chr1:27623546G>C c.957G>C c.(955-957)caG>caC p.Q319H BLCA 1 27623546 27623546 + Missense_Mutation SNP G G C TCGA-GU-AATP-01A-11D-A391-08 TCGA-GU-AATP-10A-01D-A394-08 g.chr1:27623546G>C c.957G>C c.(955-957)caG>caC p.Q319H BLCA 1 27623588 27623588 + Silent SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 g.chr1:27623588C>T c.999C>T c.(997-999)tcC>tcT p.S333S BLCA 1 27631682 27631682 + Missense_Mutation SNP G G C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 g.chr1:27631682G>C c.1834G>C c.(1834-1836)Gag>Cag p.E612Q BRCA 1 27622855 27622855 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chr1:27622855C>T c.912C>T c.(910-912)taC>taT p.Y304Y BRCA 1 27624574 27624574 + Nonsense_Mutation SNP C C T TCGA-D8-A1XQ-01A-11D-A14K-09 TCGA-D8-A1XQ-10A-01D-A14K-09 g.chr1:27624574C>T c.1204C>T c.(1204-1206)Cga>Tga p.R402* BRCA 1 27627856 27627856 + Missense_Mutation SNP G G A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr1:27627856G>A c.1372G>A c.(1372-1374)Gac>Aac p.D458N CESC 1 27608762 27608762 + Nonsense_Mutation SNP G G A TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 g.chr1:27608762G>A c.165G>A c.(163-165)tgG>tgA p.W55* CESC 1 27622829 27622829 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr1:27622829G>C c.886G>C c.(886-888)Gac>Cac p.D296H CESC 1 27627932 27627932 + Missense_Mutation SNP T T A TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 g.chr1:27627932T>A c.1448T>A c.(1447-1449)cTc>cAc p.L483H CHOL 1 27609889 27609889 + Missense_Mutation SNP G G T TCGA-W5-AA2U-01A-11D-A417-09 TCGA-W5-AA2U-10A-01D-A41A-09 g.chr1:27609889G>T c.240G>T c.(238-240)aaG>aaT p.K80N COAD 1 27587578 27587578 + Silent SNP C C T TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr1:27587578C>T c.33C>T c.(31-33)atC>atT p.I11I COAD 1 27609862 27609862 + Silent SNP G G A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr1:27609862G>A c.213G>A c.(211-213)acG>acA p.T71T COAD 1 27620582 27620582 + Silent SNP C C T TCGA-AA-3543-01A-01W-0833-10 TCGA-AA-3543-10A-01W-0833-10 g.chr1:27620582C>T c.732C>T c.(730-732)gaC>gaT p.D244D COAD 1 27627856 27627856 + Missense_Mutation SNP G G A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr1:27627856G>A c.1372G>A c.(1372-1374)Gac>Aac p.D458N COAD 1 27630229 27630229 + Missense_Mutation SNP G G A TCGA-DM-A1HA-01A-11D-A152-10 TCGA-DM-A1HA-10A-01D-A152-10 g.chr1:27630229G>A c.1586G>A c.(1585-1587)cGc>cAc p.R529H COAD 1 27630237 27630237 + Missense_Mutation SNP G G A TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr1:27630237G>A c.1594G>A c.(1594-1596)Ggc>Agc p.G532S COAD 1 27630278 27630278 + Missense_Mutation SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:27630278C>A c.1635C>A c.(1633-1635)ttC>ttA p.F545L COAD 1 27632701 27632701 + Missense_Mutation SNP G G A TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr1:27632701G>A c.1861G>A c.(1861-1863)Gtg>Atg p.V621M COAD 1 27632864 27632864 + Missense_Mutation SNP G G T TCGA-AD-6901-01A-11D-1924-10 TCGA-AD-6901-10A-01D-1924-10 g.chr1:27632864G>T c.2024G>T c.(2023-2025)cGg>cTg p.R675L COADREAD 1 27587578 27587578 + Silent SNP C C T TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr1:27587578C>T c.33C>T c.(31-33)atC>atT p.I11I COADREAD 1 27609862 27609862 + Silent SNP G G A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr1:27609862G>A c.213G>A c.(211-213)acG>acA p.T71T COADREAD 1 27609910 27609910 + Silent SNP G G A TCGA-AG-A011-01A-01W-A00K-09 TCGA-AG-A011-10A-01W-A00K-09 g.chr1:27609910G>A c.261G>A c.(259-261)acG>acA p.T87T COADREAD 1 27609931 27609931 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:27609931C>A c.282C>A c.(280-282)ttC>ttA p.F94L COADREAD 1 27620582 27620582 + Silent SNP C C T TCGA-AA-3543-01A-01W-0833-10 TCGA-AA-3543-10A-01W-0833-10 g.chr1:27620582C>T c.732C>T c.(730-732)gaC>gaT p.D244D COADREAD 1 27622879 27622879 + Nonsense_Mutation SNP C C A TCGA-AG-3580-01A-01W-0831-10 TCGA-AG-3580-10A-01W-0831-10 g.chr1:27622879C>A c.936C>A c.(934-936)tgC>tgA p.C312* COADREAD 1 27627856 27627856 + Missense_Mutation SNP G G A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr1:27627856G>A c.1372G>A c.(1372-1374)Gac>Aac p.D458N COADREAD 1 27630229 27630229 + Missense_Mutation SNP G G A TCGA-DM-A1HA-01A-11D-A152-10 TCGA-DM-A1HA-10A-01D-A152-10 g.chr1:27630229G>A c.1586G>A c.(1585-1587)cGc>cAc p.R529H COADREAD 1 27630237 27630237 + Missense_Mutation SNP G G A TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr1:27630237G>A c.1594G>A c.(1594-1596)Ggc>Agc p.G532S COADREAD 1 27630276 27630276 + Missense_Mutation SNP T T G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:27630276T>G c.1633T>G c.(1633-1635)Ttc>Gtc p.F545V COADREAD 1 27630278 27630278 + Missense_Mutation SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:27630278C>A c.1635C>A c.(1633-1635)ttC>ttA p.F545L COADREAD 1 27631523 27631523 + Missense_Mutation SNP G G A TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr1:27631523G>A c.1675G>A c.(1675-1677)Gat>Aat p.D559N COADREAD 1 27632701 27632701 + Missense_Mutation SNP G G A TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr1:27632701G>A c.1861G>A c.(1861-1863)Gtg>Atg p.V621M COADREAD 1 27632864 27632864 + Missense_Mutation SNP G G T TCGA-AD-6901-01A-11D-1924-10 TCGA-AD-6901-10A-01D-1924-10 g.chr1:27632864G>T c.2024G>T c.(2023-2025)cGg>cTg p.R675L DLBC 1 27608772 27608772 + Missense_Mutation SNP G G A TCGA-VB-A8QN-01A-11D-A382-10 TCGA-VB-A8QN-10A-01D-A385-10 g.chr1:27608772G>A c.175G>A c.(175-177)Gga>Aga p.G59R DLBC 1 27631526 27631526 + Missense_Mutation SNP G G A TCGA-GR-7351-01A-11D-2210-10 TCGA-GR-7351-10A-01D-2210-10 g.chr1:27631526G>A c.1678G>A c.(1678-1680)Ggc>Agc p.G560S ESCA 1 27609833 27609833 + Silent SNP C C T TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 g.chr1:27609833C>T c.184C>T c.(184-186)Ctg>Ttg p.L62L ESCA 1 27622891 27622891 + Splice_Site SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr1:27622891G>T c.948G>T c.(946-948)ggG>ggT p.G316G GBMLGG 1 27589652 27589652 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:27589652G>A c.58G>A c.(58-60)Gcc>Acc p.A20T HNSC 1 27609881 27609881 + Missense_Mutation SNP C C T TCGA-P3-A6T0-01A-12D-A34J-08 TCGA-P3-A6T0-10A-01D-A34M-08 g.chr1:27609881C>T c.232C>T c.(232-234)Cac>Tac p.H78Y HNSC 1 27614251 27614252 + Frame_Shift_Ins INS - - AT TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 g.chr1:27614251_27614252insAT c.378_379insAT c.(379-381)atcfs p.I127fs HNSC 1 27621045 27621045 + Silent SNP G G A TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 g.chr1:27621045G>A c.798G>A c.(796-798)ttG>ttA p.L266L HNSC 1 27627909 27627909 + Silent SNP G G A TCGA-CV-5432-01A-02D-1683-08 TCGA-CV-5432-10A-01D-1870-08 g.chr1:27627909G>A c.1425G>A c.(1423-1425)ttG>ttA p.L475L HNSC 1 27632707 27632707 + Missense_Mutation SNP G G A TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 g.chr1:27632707G>A c.1867G>A c.(1867-1869)Gat>Aat p.D623N HNSC 1 27632792 27632792 + Missense_Mutation SNP T T A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 g.chr1:27632792T>A c.1952T>A c.(1951-1953)aTc>aAc p.I651N KIPAN 1 27609919 27609919 + Silent SNP C C T TCGA-A3-3322-01A-01W-0886-08 TCGA-A3-3322-11A-01D-0966-08 g.chr1:27609919C>T c.270C>T c.(268-270)acC>acT p.T90T KIPAN 1 27631607 27631607 + Nonsense_Mutation SNP C C T TCGA-WN-AB4C-01A-11D-A42J-10 TCGA-WN-AB4C-10A-01D-A42M-10 g.chr1:27631607C>T c.1759C>T c.(1759-1761)Cag>Tag p.Q587* KIRC 1 27609919 27609919 + Silent SNP C C T TCGA-A3-3322-01A-01W-0886-08 TCGA-A3-3322-11A-01D-0966-08 g.chr1:27609919C>T c.270C>T c.(268-270)acC>acT p.T90T KIRP 1 27631607 27631607 + Nonsense_Mutation SNP C C T TCGA-WN-AB4C-01A-11D-A42J-10 TCGA-WN-AB4C-10A-01D-A42M-10 g.chr1:27631607C>T c.1759C>T c.(1759-1761)Cag>Tag p.Q587* LGG 1 27589652 27589652 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:27589652G>A c.58G>A c.(58-60)Gcc>Acc p.A20T LIHC 1 27622887 27622888 + Frame_Shift_Ins INS - - G TCGA-BC-A112-01A-11D-A12Z-10 TCGA-BC-A112-11A-11D-A12Z-10 g.chr1:27622887_27622888insG c.944_945insG c.(943-948)tcggggfs p.SG315fs LIHC 1 27627864 27627864 + Silent SNP A A G TCGA-EP-A2KA-01A-11D-A183-10 TCGA-EP-A2KA-10A-01D-A183-10 g.chr1:27627864A>G c.1380A>G c.(1378-1380)aaA>aaG p.K460K LUAD 1 27609887 27609887 + Missense_Mutation SNP A A C TCGA-05-5428-01A-01D-1625-08 TCGA-05-5428-10A-01D-1625-08 g.chr1:27609887A>C c.238A>C c.(238-240)Aag>Cag p.K80Q LUAD 1 27614294 27614294 + Missense_Mutation SNP G G T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 g.chr1:27614294G>T c.421G>T c.(421-423)Gcc>Tcc p.A141S LUAD 1 27620600 27620600 + Silent SNP C C T TCGA-55-8620-01A-11D-2393-08 TCGA-55-8620-10A-01D-2393-08 g.chr1:27620600C>T c.750C>T c.(748-750)taC>taT p.Y250Y LUAD 1 27621116 27621116 + Missense_Mutation SNP A A G TCGA-17-Z049-01A-01W-0746-08 TCGA-17-Z049-11A-01W-0747-08 g.chr1:27621116A>G c.869A>G c.(868-870)gAa>gGa p.E290G LUAD 1 27624465 27624465 + Silent SNP G G A TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 g.chr1:27624465G>A c.1095G>A c.(1093-1095)gtG>gtA p.V365V LUAD 1 27624556 27624556 + Missense_Mutation SNP G G C TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 g.chr1:27624556G>C c.1186G>C c.(1186-1188)Gcc>Ccc p.A396P LUAD 1 27627736 27627736 + Missense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 g.chr1:27627736G>T c.1252G>T c.(1252-1254)Gcc>Tcc p.A418S LUAD 1 27627882 27627882 + Missense_Mutation SNP G G T TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr1:27627882G>T c.1398G>T c.(1396-1398)caG>caT p.Q466H LUAD 1 27627883 27627883 + Missense_Mutation SNP G G T TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr1:27627883G>T c.1399G>T c.(1399-1401)Gcc>Tcc p.A467S LUAD 1 27630166 27630166 + Missense_Mutation SNP G G A TCGA-17-Z016-01A-01W-0746-08 TCGA-17-Z016-11A-01W-0746-08 g.chr1:27630166G>A c.1523G>A c.(1522-1524)cGc>cAc p.R508H LUAD 1 27632808 27632809 + Frame_Shift_Ins INS - - G TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 g.chr1:27632808_27632809insG c.1968_1969insG c.(1969-1971)gggfs p.G657fs LUSC 1 27608757 27608757 + Nonsense_Mutation SNP G G T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 g.chr1:27608757G>T c.160G>T c.(160-162)Gag>Tag p.E54* LUSC 1 27618778 27618778 + Silent SNP G G T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 g.chr1:27618778G>T c.552G>T c.(550-552)ctG>ctT p.L184L OV 1 27632830 27632830 + Missense_Mutation SNP G G A TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 g.chr1:27632830G>A c.1990G>A c.(1990-1992)Gat>Aat p.D664N PAAD 1 27632740 27632740 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:27632740C>T c.1900C>T c.(1900-1902)Cgc>Tgc p.R634C PRAD 1 27630137 27630137 + Silent SNP C C T TCGA-KK-A59V-01A-11D-A29Q-08 TCGA-KK-A59V-11A-11D-A29Q-08 g.chr1:27630137C>T c.1494C>T c.(1492-1494)ggC>ggT p.G498G READ 1 27609910 27609910 + Silent SNP G G A TCGA-AG-A011-01A-01W-A00K-09 TCGA-AG-A011-10A-01W-A00K-09 g.chr1:27609910G>A c.261G>A c.(259-261)acG>acA p.T87T READ 1 27609931 27609931 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:27609931C>A c.282C>A c.(280-282)ttC>ttA p.F94L READ 1 27622879 27622879 + Nonsense_Mutation SNP C C A TCGA-AG-3580-01A-01W-0831-10 TCGA-AG-3580-10A-01W-0831-10 g.chr1:27622879C>A c.936C>A c.(934-936)tgC>tgA p.C312* READ 1 27630276 27630276 + Missense_Mutation SNP T T G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:27630276T>G c.1633T>G c.(1633-1635)Ttc>Gtc p.F545V READ 1 27631523 27631523 + Missense_Mutation SNP G G A TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr1:27631523G>A c.1675G>A c.(1675-1677)Gat>Aat p.D559N SARC 1 27632840 27632840 + Missense_Mutation SNP G G C TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 g.chr1:27632840G>C c.2000G>C c.(1999-2001)aGc>aCc p.S667T SKCM 1 27618754 27618754 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 g.chr1:27618754C>T c.528C>T c.(526-528)gaC>gaT p.D176D SKCM 1 27618877 27618877 + Silent SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 g.chr1:27618877C>T c.651C>T c.(649-651)atC>atT p.I217I SKCM 1 27620574 27620574 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr1:27620574C>T c.724C>T c.(724-726)Ctt>Ttt p.L242F SKCM 1 27622887 27622887 + Missense_Mutation SNP C C T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 g.chr1:27622887C>T c.944C>T c.(943-945)tCg>tTg p.S315L SKCM 1 27630175 27630175 + Missense_Mutation SNP C C T TCGA-EE-A183-06A-11D-A196-08 TCGA-EE-A183-10A-01D-A198-08 g.chr1:27630175C>T c.1532C>T c.(1531-1533)tCc>tTc p.S511F SKCM 1 27630176 27630176 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr1:27630176C>T c.1533C>T c.(1531-1533)tcC>tcT p.S511S SKCM 1 27631507 27631507 + Silent SNP C C T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr1:27631507C>T c.1659C>T c.(1657-1659)atC>atT p.I553I SKCM 1 27631591 27631591 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr1:27631591C>T c.1743C>T c.(1741-1743)tcC>tcT p.S581S

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 1 27630228 27630228 single base substitution C T exon_variant BLCA-CN 1 27630228 27630228 single base substitution C T missense_variant R528C 1582C>T BLCA-CN 1 27630228 27630228 single base substitution C T missense_variant R529C 1585C>T BLCA-CN 1 27630228 27630228 single base substitution C T upstream_gene_variant BLCA-US 1 27623546 27623546 single base substitution G C exon_variant BLCA-US 1 27623546 27623546 single base substitution G C missense_variant Q318H 954G>C BLCA-US 1 27623546 27623546 single base substitution G C missense_variant Q319H 957G>C BLCA-US 1 27623588 27623588 single base substitution C T exon_variant BLCA-US 1 27623588 27623588 single base substitution C T synonymous_variant S332S 996C>T BLCA-US 1 27623588 27623588 single base substitution C T synonymous_variant S333S 999C>T BLCA-US 1 27631682 27631682 single base substitution G C missense_variant E611Q 1831G>C BLCA-US 1 27631682 27631682 single base substitution G C missense_variant E612Q 1834G>C BLCA-US 1 27631682 27631682 single base substitution G C splice_region_variant BOCA-FR 1 27617082 27617082 single base substitution G A intron_variant BRCA-EU 1 27556228 27556228 single base substitution G C upstream_gene_variant BRCA-EU 1 27557415 27557415 single base substitution C T upstream_gene_variant BRCA-EU 1 27558218 27558218 single base substitution C T upstream_gene_variant BRCA-EU 1 27560917 27560917 single base substitution G T upstream_gene_variant BRCA-EU 1 27561011 27561011 deletion of <=200bp G - 5_prime_UTR_variant BRCA-EU 1 27561011 27561011 deletion of <=200bp G - upstream_gene_variant BRCA-EU 1 27567954 27567954 single base substitution G C intron_variant BRCA-EU 1 27568394 27568394 single base substitution T G intron_variant BRCA-EU 1 27570657 27570657 single base substitution T A intron_variant BRCA-EU 1 27571156 27571156 single base substitution C A intron_variant BRCA-EU 1 27572134 27572134 single base substitution C T intron_variant BRCA-EU 1 27572764 27572764 single base substitution C T intron_variant BRCA-EU 1 27574008 27574008 single base substitution C T intron_variant BRCA-EU 1 27576860 27576860 single base substitution C G intron_variant BRCA-EU 1 27578311 27578311 single base substitution C G intron_variant BRCA-EU 1 27581133 27581133 deletion of <=200bp T - intron_variant BRCA-EU 1 27581445 27581445 single base substitution A T intron_variant BRCA-EU 1 27583555 27583555 single base substitution A G intron_variant BRCA-EU 1 27583555 27583555 single base substitution A G upstream_gene_variant BRCA-EU 1 27588011 27588011 single base substitution C T intron_variant BRCA-EU 1 27589108 27589108 single base substitution A G intron_variant BRCA-EU 1 27590617 27590617 single base substitution T G intron_variant BRCA-EU 1 27595138 27595138 single base substitution G C intron_variant BRCA-EU 1 27596074 27596074 single base substitution G C intron_variant BRCA-EU 1 27597292 27597292 single base substitution C T intron_variant BRCA-EU 1 27597391 27597391 insertion of <=200bp - T intron_variant BRCA-EU 1 27597402 27597402 single base substitution C G intron_variant BRCA-EU 1 27597902 27597902 single base substitution C T intron_variant BRCA-EU 1 27598316 27598316 single base substitution T C intron_variant BRCA-EU 1 27598738 27598738 single base substitution A T intron_variant BRCA-EU 1 27600458 27600458 deletion of <=200bp T - intron_variant BRCA-EU 1 27603406 27603406 single base substitution A T intron_variant BRCA-EU 1 27604098 27604098 single base substitution C A intron_variant BRCA-EU 1 27605728 27605728 single base substitution A G intron_variant BRCA-EU 1 27606469 27606469 single base substitution T G intron_variant BRCA-EU 1 27607330 27607330 single base substitution C T intron_variant BRCA-EU 1 27607430 27607430 single base substitution C T intron_variant BRCA-EU 1 27607491 27607491 single base substitution C T intron_variant BRCA-EU 1 27607495 27607495 single base substitution C G intron_variant BRCA-EU 1 27607896 27607896 single base substitution G C intron_variant BRCA-EU 1 27608076 27608076 single base substitution C T intron_variant BRCA-EU 1 27608153 27608153 single base substitution C T intron_variant BRCA-EU 1 27609028 27609028 single base substitution C T intron_variant BRCA-EU 1 27609103 27609103 single base substitution C T intron_variant BRCA-EU 1 27609110 27609110 single base substitution C T intron_variant BRCA-EU 1 27609214 27609214 single base substitution C G intron_variant BRCA-EU 1 27609214 27609214 single base substitution C G upstream_gene_variant BRCA-EU 1 27609264 27609264 single base substitution G T intron_variant BRCA-EU 1 27609264 27609264 single base substitution G T upstream_gene_variant BRCA-EU 1 27611001 27611001 single base substitution C T intron_variant BRCA-EU 1 27611001 27611001 single base substitution C T upstream_gene_variant BRCA-EU 1 27612593 27612593 single base substitution T G intron_variant BRCA-EU 1 27612593 27612593 single base substitution T G upstream_gene_variant BRCA-EU 1 27612882 27612882 single base substitution T C intron_variant BRCA-EU 1 27612882 27612882 single base substitution T C upstream_gene_variant BRCA-EU 1 27614697 27614697 single base substitution G A intron_variant BRCA-EU 1 27614722 27614722 single base substitution G A intron_variant BRCA-EU 1 27614753 27614753 single base substitution T A intron_variant BRCA-EU 1 27615447 27615447 single base substitution C T intron_variant BRCA-EU 1 27615455 27615455 single base substitution C G intron_variant BRCA-EU 1 27615496 27615496 single base substitution G A intron_variant BRCA-EU 1 27615585 27615585 single base substitution C T intron_variant BRCA-EU 1 27615699 27615699 single base substitution G A intron_variant BRCA-EU 1 27616524 27616524 single base substitution G A intron_variant BRCA-EU 1 27616671 27616671 single base substitution C T intron_variant BRCA-EU 1 27617531 27617531 single base substitution C G intron_variant BRCA-EU 1 27618784 27618784 single base substitution G C exon_variant BRCA-EU 1 27618784 27618784 single base substitution G C missense_variant E186D 558G>C BRCA-EU 1 27621108 27621108 insertion of <=200bp - G exon_variant BRCA-EU 1 27621108 27621108 insertion of <=200bp - G frameshift_variant M287M? BRCA-EU 1 27622983 27622983 single base substitution G C intron_variant BRCA-EU 1 27622983 27622983 single base substitution G T intron_variant BRCA-EU 1 27625247 27625247 single base substitution G A intron_variant BRCA-EU 1 27626191 27626191 single base substitution C G intron_variant BRCA-EU 1 27626248 27626248 single base substitution G A intron_variant BRCA-EU 1 27626637 27626637 single base substitution G A intron_variant BRCA-EU 1 27626637 27626637 single base substitution G A upstream_gene_variant BRCA-EU 1 27628416 27628416 single base substitution G C intron_variant BRCA-EU 1 27628416 27628416 single base substitution G C upstream_gene_variant BRCA-EU 1 27628606 27628606 single base substitution C G intron_variant BRCA-EU 1 27628606 27628606 single base substitution C G upstream_gene_variant BRCA-EU 1 27632701 27632701 single base substitution G A exon_variant BRCA-EU 1 27632701 27632701 single base substitution G A missense_variant V620M 1858G>A BRCA-EU 1 27632701 27632701 single base substitution G A missense_variant V621M 1861G>A BRCA-EU 1 27632845 27632845 single base substitution G A 3_prime_UTR_variant BRCA-EU 1 27632845 27632845 single base substitution G A exon_variant BRCA-EU 1 27632845 27632845 single base substitution G A missense_variant E668K 2002G>A BRCA-EU 1 27632845 27632845 single base substitution G A missense_variant E669K 2005G>A BRCA-EU 1 27635080 27635080 deletion of <=200bp A - 3_prime_UTR_variant BRCA-EU 1 27635080 27635080 deletion of <=200bp A - downstream_gene_variant BRCA-EU 1 27635080 27635080 deletion of <=200bp A - exon_variant BRCA-EU 1 27635694 27635694 single base substitution A G downstream_gene_variant BRCA-EU 1 27636837 27636837 single base substitution G A downstream_gene_variant BRCA-EU 1 27638062 27638062 single base substitution G T downstream_gene_variant BRCA-FR 1 27558313 27558313 single base substitution C G upstream_gene_variant BRCA-FR 1 27588897 27588897 single base substitution G C intron_variant BRCA-FR 1 27595138 27595138 single base substitution G C intron_variant BRCA-FR 1 27597292 27597292 single base substitution C T intron_variant BRCA-FR 1 27597402 27597402 single base substitution C G intron_variant BRCA-FR 1 27597902 27597902 single base substitution C T intron_variant BRCA-FR 1 27600341 27600341 single base substitution G C intron_variant BRCA-FR 1 27600366 27600366 single base substitution G C intron_variant BRCA-FR 1 27614753 27614753 single base substitution T A intron_variant BRCA-FR 1 27614755 27614755 single base substitution G A intron_variant BRCA-FR 1 27622983 27622983 single base substitution G C intron_variant BRCA-FR 1 27626248 27626248 single base substitution G A intron_variant BRCA-FR 1 27636837 27636837 single base substitution G A downstream_gene_variant BRCA-UK 1 27615513 27615513 single base substitution G A intron_variant BRCA-US 1 27621107 27621107 insertion of <=200bp - G exon_variant BRCA-US 1 27621107 27621107 insertion of <=200bp - G frameshift_variant M287S? BRCA-US 1 27622855 27622855 single base substitution C T exon_variant BRCA-US 1 27622855 27622855 single base substitution C T synonymous_variant Y304Y 912C>T BRCA-US 1 27624574 27624574 single base substitution C T exon_variant BRCA-US 1 27624574 27624574 single base substitution C T stop_gained R401* 1201C>T BRCA-US 1 27624574 27624574 single base substitution C T stop_gained R402* 1204C>T BRCA-US 1 27627856 27627856 single base substitution G A exon_variant BRCA-US 1 27627856 27627856 single base substitution G A missense_variant D457N 1369G>A BRCA-US 1 27627856 27627856 single base substitution G A missense_variant D458N 1372G>A BRCA-US 1 27627856 27627856 single base substitution G A upstream_gene_variant BRCA-US 1 27631480 27631480 deletion of <=200bp C - exon_variant BRCA-US 1 27631480 27631480 deletion of <=200bp C - intron_variant BRCA-US 1 27631480 27631480 deletion of <=200bp C - upstream_gene_variant BRCA-US 1 27632974 27632974 deletion of <=200bp T - 3_prime_UTR_variant BRCA-US 1 27632974 27632974 deletion of <=200bp T - exon_variant BRCA-US 1 27632974 27632974 deletion of <=200bp T - intron_variant BTCA-JP 1 27621108 27621108 deletion of <=200bp G - exon_variant BTCA-JP 1 27621108 27621108 deletion of <=200bp G - frameshift_variant M287 BTCA-JP 1 27621108 27621108 insertion of <=200bp - G exon_variant BTCA-JP 1 27621108 27621108 insertion of <=200bp - G frameshift_variant M287M? BTCA-JP 1 27623437 27623437 single base substitution G C intron_variant CESC-US 1 27608762 27608762 single base substitution G A exon_variant CESC-US 1 27608762 27608762 single base substitution G A stop_gained W55* 165G>A CESC-US 1 27621108 27621108 deletion of <=200bp G - exon_variant CESC-US 1 27621108 27621108 deletion of <=200bp G - frameshift_variant M287 CESC-US 1 27622829 27622829 single base substitution G C exon_variant CESC-US 1 27622829 27622829 single base substitution G C missense_variant D296H 886G>C CESC-US 1 27627932 27627932 single base substitution T A exon_variant CESC-US 1 27627932 27627932 single base substitution T A missense_variant L482H 1445T>A CESC-US 1 27627932 27627932 single base substitution T A missense_variant L483H 1448T>A CESC-US 1 27627932 27627932 single base substitution T A upstream_gene_variant CESC-US 1 27633121 27633121 insertion of <=200bp - C 3_prime_UTR_variant CESC-US 1 27633121 27633121 insertion of <=200bp - C exon_variant CESC-US 1 27633121 27633121 insertion of <=200bp - C intron_variant CESC-US 1 27633122 27633122 deletion of <=200bp C - 3_prime_UTR_variant CESC-US 1 27633122 27633122 deletion of <=200bp C - exon_variant CESC-US 1 27633122 27633122 deletion of <=200bp C - intron_variant CLLE-ES 1 27558487 27558487 single base substitution G A upstream_gene_variant CLLE-ES 1 27573919 27573919 single base substitution T G intron_variant CLLE-ES 1 27585110 27585110 single base substitution G A intron_variant CLLE-ES 1 27585110 27585110 single base substitution G A upstream_gene_variant CLLE-ES 1 27597946 27597946 single base substitution C G intron_variant COAD-US 1 27609862 27609862 single base substitution G A exon_variant COAD-US 1 27609862 27609862 single base substitution G A synonymous_variant T71T 213G>A COAD-US 1 27609862 27609862 single base substitution G A upstream_gene_variant COAD-US 1 27621107 27621107 insertion of <=200bp - G exon_variant COAD-US 1 27621107 27621107 insertion of <=200bp - G frameshift_variant M287S? COAD-US 1 27621108 27621108 deletion of <=200bp G - exon_variant COAD-US 1 27621108 27621108 deletion of <=200bp G - frameshift_variant M287 COAD-US 1 27627856 27627856 single base substitution G A exon_variant COAD-US 1 27627856 27627856 single base substitution G A missense_variant D457N 1369G>A COAD-US 1 27627856 27627856 single base substitution G A missense_variant D458N 1372G>A COAD-US 1 27627856 27627856 single base substitution G A upstream_gene_variant COAD-US 1 27630229 27630229 single base substitution G A exon_variant COAD-US 1 27630229 27630229 single base substitution G A missense_variant R528H 1583G>A COAD-US 1 27630229 27630229 single base substitution G A missense_variant R529H 1586G>A COAD-US 1 27630229 27630229 single base substitution G A upstream_gene_variant COAD-US 1 27632701 27632701 single base substitution G A exon_variant COAD-US 1 27632701 27632701 single base substitution G A missense_variant V620M 1858G>A COAD-US 1 27632701 27632701 single base substitution G A missense_variant V621M 1861G>A COAD-US 1 27632864 27632864 single base substitution G T 3_prime_UTR_variant COAD-US 1 27632864 27632864 single base substitution G T exon_variant COAD-US 1 27632864 27632864 single base substitution G T missense_variant R674L 2021G>T COAD-US 1 27632864 27632864 single base substitution G T missense_variant R675L 2024G>T COCA-CN 1 27576089 27576089 single base substitution C T intron_variant COCA-CN 1 27628008 27628008 single base substitution G T intron_variant COCA-CN 1 27628008 27628008 single base substitution G T upstream_gene_variant COCA-CN 1 27630372 27630372 single base substitution G T exon_variant COCA-CN 1 27630372 27630372 single base substitution G T intron_variant COCA-CN 1 27630372 27630372 single base substitution G T upstream_gene_variant EOPC-DE 1 27572991 27572991 single base substitution G A intron_variant EOPC-DE 1 27608848 27608848 single base substitution C A intron_variant EOPC-DE 1 27630855 27630855 single base substitution C T exon_variant EOPC-DE 1 27630855 27630855 single base substitution C T intron_variant EOPC-DE 1 27630855 27630855 single base substitution C T upstream_gene_variant ESAD-UK 1 27558162 27558162 single base substitution G A upstream_gene_variant ESAD-UK 1 27558892 27558892 single base substitution C T upstream_gene_variant ESAD-UK 1 27559755 27559755 single base substitution G A upstream_gene_variant ESAD-UK 1 27559968 27559968 single base substitution A G upstream_gene_variant ESAD-UK 1 27561766 27561766 single base substitution T G intron_variant ESAD-UK 1 27561785 27561785 single base substitution C T intron_variant ESAD-UK 1 27562853 27562853 single base substitution C T intron_variant ESAD-UK 1 27565214 27565214 single base substitution G A intron_variant ESAD-UK 1 27567061 27567061 single base substitution A C intron_variant ESAD-UK 1 27568223 27568223 single base substitution T C intron_variant ESAD-UK 1 27570658 27570658 single base substitution A T intron_variant ESAD-UK 1 27575459 27575459 single base substitution A T intron_variant ESAD-UK 1 27576570 27576570 single base substitution T C intron_variant ESAD-UK 1 27578324 27578324 single base substitution C G intron_variant ESAD-UK 1 27580816 27580816 single base substitution G A intron_variant ESAD-UK 1 27581982 27581982 single base substitution G A intron_variant ESAD-UK 1 27582115 27582115 single base substitution A T intron_variant ESAD-UK 1 27582256 27582256 single base substitution C T intron_variant ESAD-UK 1 27587544 27587544 single base substitution A C 5_prime_UTR_variant ESAD-UK 1 27588418 27588418 deletion of <=200bp A - intron_variant ESAD-UK 1 27588424 27588425 deletion of <=200bp AT - intron_variant ESAD-UK 1 27589919 27589919 deletion of <=200bp T - intron_variant ESAD-UK 1 27591120 27591124 deletion of <=200bp TTTGT - intron_variant ESAD-UK 1 27593113 27593113 single base substitution G A intron_variant ESAD-UK 1 27593906 27593906 single base substitution T G intron_variant ESAD-UK 1 27593984 27593984 single base substitution C T intron_variant ESAD-UK 1 27595244 27595244 single base substitution C T intron_variant ESAD-UK 1 27603527 27603527 single base substitution T C intron_variant ESAD-UK 1 27605509 27605509 single base substitution C T intron_variant ESAD-UK 1 27609081 27609081 single base substitution C T intron_variant ESAD-UK 1 27609668 27609668 single base substitution A G intron_variant ESAD-UK 1 27609668 27609668 single base substitution A G upstream_gene_variant ESAD-UK 1 27611357 27611357 single base substitution A G intron_variant ESAD-UK 1 27611357 27611357 single base substitution A G upstream_gene_variant ESAD-UK 1 27613921 27613921 single base substitution C T intron_variant ESAD-UK 1 27613921 27613921 single base substitution C T upstream_gene_variant ESAD-UK 1 27614849 27614849 single base substitution A T intron_variant ESAD-UK 1 27616748 27616748 deletion of <=200bp T - intron_variant ESAD-UK 1 27620997 27620997 single base substitution C G splice_region_variant ESAD-UK 1 27621108 27621108 insertion of <=200bp - G exon_variant ESAD-UK 1 27621108 27621108 insertion of <=200bp - G frameshift_variant M287M? ESAD-UK 1 27623486 27623486 single base substitution A C intron_variant ESAD-UK 1 27624333 27624333 single base substitution G A intron_variant ESAD-UK 1 27624334 27624334 single base substitution A T intron_variant ESAD-UK 1 27626889 27626889 single base substitution G T intron_variant ESAD-UK 1 27626889 27626889 single base substitution G T upstream_gene_variant ESAD-UK 1 27627610 27627610 single base substitution C A intron_variant ESAD-UK 1 27627610 27627610 single base substitution C A upstream_gene_variant ESAD-UK 1 27627915 27627915 single base substitution C T exon_variant ESAD-UK 1 27627915 27627915 single base substitution C T synonymous_variant R476R 1428C>T ESAD-UK 1 27627915 27627915 single base substitution C T synonymous_variant R477R 1431C>T ESAD-UK 1 27627915 27627915 single base substitution C T upstream_gene_variant ESAD-UK 1 27630887 27630887 single base substitution G C exon_variant ESAD-UK 1 27630887 27630887 single base substitution G C intron_variant ESAD-UK 1 27630887 27630887 single base substitution G C upstream_gene_variant ESAD-UK 1 27635080 27635080 deletion of <=200bp A - 3_prime_UTR_variant ESAD-UK 1 27635080 27635080 deletion of <=200bp A - downstream_gene_variant ESAD-UK 1 27635080 27635080 deletion of <=200bp A - exon_variant ESAD-UK 1 27638466 27638466 single base substitution C T downstream_gene_variant ESCA-CN 1 27630201 27630201 single base substitution C T exon_variant ESCA-CN 1 27630201 27630201 single base substitution C T missense_variant R519W 1555C>T ESCA-CN 1 27630201 27630201 single base substitution C T missense_variant R520W 1558C>T ESCA-CN 1 27630201 27630201 single base substitution C T upstream_gene_variant ESCA-CN 1 27632688 27632688 single base substitution C T exon_variant ESCA-CN 1 27632688 27632688 single base substitution C T synonymous_variant L615L 1845C>T ESCA-CN 1 27632688 27632688 single base substitution C T synonymous_variant L616L 1848C>T KIRC-US 1 27587572 27587572 single base substitution C T exon_variant KIRC-US 1 27587572 27587572 single base substitution C T synonymous_variant D9D 27C>T LAML-KR 1 27615517 27615517 single base substitution G A intron_variant LAML-KR 1 27615566 27615566 single base substitution A G intron_variant LICA-CN 1 27589677 27589677 single base substitution A G exon_variant LICA-CN 1 27589677 27589677 single base substitution A G missense_variant H28R 83A>G LICA-FR 1 27558669 27558669 insertion of <=200bp - GG upstream_gene_variant LICA-FR 1 27596098 27596098 insertion of <=200bp - T intron_variant LICA-FR 1 27618761 27618761 single base substitution G A exon_variant LICA-FR 1 27618761 27618761 single base substitution G A missense_variant E179K 535G>A LIHC-US 1 27622887 27622887 insertion of <=200bp - G exon_variant LIHC-US 1 27622887 27622887 insertion of <=200bp - G frameshift_variant S315C? LIHC-US 1 27627864 27627864 single base substitution A G exon_variant LIHC-US 1 27627864 27627864 single base substitution A G synonymous_variant K459K 1377A>G LIHC-US 1 27627864 27627864 single base substitution A G synonymous_variant K460K 1380A>G LIHC-US 1 27627864 27627864 single base substitution A G upstream_gene_variant LINC-JP 1 27559877 27559877 single base substitution C A upstream_gene_variant LINC-JP 1 27587362 27587362 single base substitution G T intron_variant LINC-JP 1 27587362 27587362 single base substitution G T upstream_gene_variant LINC-JP 1 27587433 27587433 deletion of <=200bp T - intron_variant LINC-JP 1 27587433 27587433 deletion of <=200bp T - upstream_gene_variant LINC-JP 1 27603489 27603489 single base substitution A G intron_variant LINC-JP 1 27605746 27605746 single base substitution C T intron_variant LINC-JP 1 27614383 27614383 single base substitution T C intron_variant LINC-JP 1 27622812 27622812 single base substitution T G splice_region_variant LINC-JP 1 27632812 27632812 single base substitution G A 3_prime_UTR_variant LINC-JP 1 27632812 27632812 single base substitution G A exon_variant LINC-JP 1 27632812 27632812 single base substitution G A missense_variant G657S 1969G>A LINC-JP 1 27632812 27632812 single base substitution G A missense_variant G658S 1972G>A LINC-JP 1 27635472 27635472 single base substitution G T downstream_gene_variant LIRI-JP 1 27566700 27566700 single base substitution C G intron_variant LIRI-JP 1 27566957 27566957 single base substitution A G intron_variant LIRI-JP 1 27570195 27570195 single base substitution A G intron_variant LIRI-JP 1 27571558 27571558 single base substitution G T intron_variant LIRI-JP 1 27572581 27572581 single base substitution A G intron_variant LIRI-JP 1 27574271 27574271 single base substitution G A intron_variant LIRI-JP 1 27574495 27574495 single base substitution C T intron_variant LIRI-JP 1 27580301 27580301 single base substitution C G intron_variant LIRI-JP 1 27580716 27580716 single base substitution A G intron_variant LIRI-JP 1 27589706 27589706 single base substitution G A exon_variant LIRI-JP 1 27589706 27589706 single base substitution G A missense_variant G38S 112G>A LIRI-JP 1 27589711 27589711 single base substitution G T exon_variant LIRI-JP 1 27589711 27589711 single base substitution G T synonymous_variant L39L 117G>T LIRI-JP 1 27589712 27589712 single base substitution G T exon_variant LIRI-JP 1 27589712 27589712 single base substitution G T stop_gained E40* 118G>T LIRI-JP 1 27592353 27592353 single base substitution G A intron_variant LIRI-JP 1 27592971 27592971 single base substitution A G intron_variant LIRI-JP 1 27593882 27593882 single base substitution G A intron_variant LIRI-JP 1 27594193 27594193 single base substitution A G intron_variant LIRI-JP 1 27595119 27595119 single base substitution A T intron_variant LIRI-JP 1 27597374 27597374 single base substitution A G intron_variant LIRI-JP 1 27597954 27597954 single base substitution C T intron_variant LIRI-JP 1 27599598 27599598 single base substitution A G intron_variant LIRI-JP 1 27604887 27604887 single base substitution T A intron_variant LIRI-JP 1 27604984 27604984 single base substitution T A intron_variant LIRI-JP 1 27609050 27609050 single base substitution A G intron_variant LIRI-JP 1 27609833 27609833 single base substitution C T exon_variant LIRI-JP 1 27609833 27609833 single base substitution C T synonymous_variant L62L 184C>T LIRI-JP 1 27609833 27609833 single base substitution C T upstream_gene_variant LIRI-JP 1 27610802 27610802 single base substitution C T intron_variant LIRI-JP 1 27610802 27610802 single base substitution C T upstream_gene_variant LIRI-JP 1 27612165 27612165 single base substitution A G intron_variant LIRI-JP 1 27612165 27612165 single base substitution A G upstream_gene_variant LIRI-JP 1 27615024 27615024 single base substitution T G intron_variant LIRI-JP 1 27616833 27616833 single base substitution C T intron_variant LIRI-JP 1 27621108 27621108 deletion of <=200bp G - exon_variant LIRI-JP 1 27621108 27621108 deletion of <=200bp G - frameshift_variant M287 LIRI-JP 1 27621584 27621584 single base substitution T G intron_variant LIRI-JP 1 27622471 27622471 single base substitution G C intron_variant LIRI-JP 1 27622846 27622846 single base substitution G T exon_variant LIRI-JP 1 27622846 27622846 single base substitution G T missense_variant Q301H 903G>T LIRI-JP 1 27623484 27623484 single base substitution G A intron_variant LIRI-JP 1 27626082 27626082 single base substitution A G intron_variant LIRI-JP 1 27629071 27629071 single base substitution A C intron_variant LIRI-JP 1 27629071 27629071 single base substitution A C upstream_gene_variant LIRI-JP 1 27630256 27630256 single base substitution C T exon_variant LIRI-JP 1 27630256 27630256 single base substitution C T missense_variant T537M 1610C>T LIRI-JP 1 27630256 27630256 single base substitution C T missense_variant T538M 1613C>T LIRI-JP 1 27630256 27630256 single base substitution C T upstream_gene_variant LIRI-JP 1 27630780 27630780 single base substitution A T exon_variant LIRI-JP 1 27630780 27630780 single base substitution A T intron_variant LIRI-JP 1 27630780 27630780 single base substitution A T upstream_gene_variant LIRI-JP 1 27633251 27633251 single base substitution A C 3_prime_UTR_variant LIRI-JP 1 27633251 27633251 single base substitution A C exon_variant LIRI-JP 1 27636964 27636964 single base substitution A G downstream_gene_variant LIRI-JP 1 27638020 27638020 single base substitution C T downstream_gene_variant LUSC-KR 1 27556429 27556429 single base substitution A T upstream_gene_variant LUSC-KR 1 27557549 27557549 single base substitution A T upstream_gene_variant LUSC-KR 1 27559104 27559104 single base substitution C A upstream_gene_variant LUSC-KR 1 27559407 27559407 single base substitution G T upstream_gene_variant LUSC-KR 1 27560501 27560501 single base substitution C A upstream_gene_variant LUSC-KR 1 27564995 27564995 single base substitution G C intron_variant LUSC-KR 1 27572781 27572781 single base substitution C T intron_variant LUSC-KR 1 27573024 27573024 single base substitution T C intron_variant LUSC-KR 1 27573657 27573657 single base substitution C T intron_variant LUSC-KR 1 27583789 27583789 single base substitution G A intron_variant LUSC-KR 1 27583789 27583789 single base substitution G A upstream_gene_variant LUSC-KR 1 27586538 27586538 single base substitution G C intron_variant LUSC-KR 1 27586538 27586538 single base substitution G C upstream_gene_variant LUSC-KR 1 27594508 27594508 single base substitution A G intron_variant LUSC-KR 1 27598747 27598747 single base substitution A G intron_variant LUSC-KR 1 27599718 27599718 single base substitution G T intron_variant LUSC-KR 1 27601403 27601403 single base substitution C A intron_variant LUSC-KR 1 27609880 27609880 single base substitution G A exon_variant LUSC-KR 1 27609880 27609880 single base substitution G A synonymous_variant L77L 231G>A LUSC-KR 1 27609880 27609880 single base substitution G A upstream_gene_variant LUSC-KR 1 27611542 27611542 single base substitution G T intron_variant LUSC-KR 1 27611542 27611542 single base substitution G T upstream_gene_variant LUSC-KR 1 27615517 27615517 single base substitution G A intron_variant LUSC-KR 1 27615941 27615941 single base substitution C T intron_variant LUSC-KR 1 27615960 27615960 single base substitution C T intron_variant LUSC-KR 1 27615962 27615962 single base substitution G T intron_variant LUSC-KR 1 27617874 27617874 single base substitution A C intron_variant LUSC-KR 1 27618610 27618610 single base substitution C T intron_variant LUSC-KR 1 27619692 27619692 single base substitution G T intron_variant LUSC-KR 1 27624208 27624208 single base substitution G A intron_variant LUSC-US 1 27608757 27608757 single base substitution G T exon_variant LUSC-US 1 27608757 27608757 single base substitution G T stop_gained E54* 160G>T LUSC-US 1 27618778 27618778 single base substitution G T exon_variant LUSC-US 1 27618778 27618778 single base substitution G T synonymous_variant L184L 552G>T MALY-DE 1 27556965 27556965 single base substitution G A upstream_gene_variant MALY-DE 1 27558689 27558689 single base substitution C T upstream_gene_variant MALY-DE 1 27560959 27560959 single base substitution G A upstream_gene_variant MALY-DE 1 27569617 27569617 single base substitution A C intron_variant MALY-DE 1 27571431 27571431 single base substitution A G intron_variant MALY-DE 1 27571439 27571439 single base substitution A G intron_variant MALY-DE 1 27572059 27572059 single base substitution T G intron_variant MALY-DE 1 27584290 27584290 single base substitution T G intron_variant MALY-DE 1 27584290 27584290 single base substitution T G upstream_gene_variant MALY-DE 1 27587674 27587674 single base substitution T A intron_variant MALY-DE 1 27600312 27600313 deletion of <=200bp GT - intron_variant MALY-DE 1 27600787 27600788 deletion of <=200bp AG - intron_variant MALY-DE 1 27601865 27601865 single base substitution A G intron_variant MALY-DE 1 27603185 27603185 insertion of <=200bp - A intron_variant MALY-DE 1 27610129 27610129 single base substitution T C intron_variant MALY-DE 1 27610129 27610129 single base substitution T C upstream_gene_variant MALY-DE 1 27612869 27612869 single base substitution C T intron_variant MALY-DE 1 27612869 27612869 single base substitution C T upstream_gene_variant MALY-DE 1 27619241 27619241 single base substitution T A intron_variant MALY-DE 1 27621122 27621122 single base substitution T A splice_donor_variant MALY-DE 1 27621197 27621197 single base substitution T A intron_variant MALY-DE 1 27621225 27621225 single base substitution T C intron_variant MALY-DE 1 27621233 27621233 single base substitution A C intron_variant MALY-DE 1 27621243 27621243 single base substitution A G intron_variant MALY-DE 1 27621331 27621331 single base substitution T C intron_variant MELA-AU 1 27556051 27556051 single base substitution G A upstream_gene_variant MELA-AU 1 27556203 27556203 single base substitution G A upstream_gene_variant MELA-AU 1 27556642 27556642 single base substitution C T upstream_gene_variant MELA-AU 1 27556866 27556866 single base substitution T C upstream_gene_variant MELA-AU 1 27556962 27556962 single base substitution C T upstream_gene_variant MELA-AU 1 27557513 27557513 single base substitution C T upstream_gene_variant MELA-AU 1 27557797 27557797 single base substitution G A upstream_gene_variant MELA-AU 1 27557837 27557837 single base substitution G A upstream_gene_variant MELA-AU 1 27557893 27557893 single base substitution C T upstream_gene_variant MELA-AU 1 27558178 27558178 single base substitution C T upstream_gene_variant MELA-AU 1 27558455 27558455 single base substitution C T upstream_gene_variant MELA-AU 1 27558844 27558844 single base substitution C T upstream_gene_variant MELA-AU 1 27558859 27558859 single base substitution G A upstream_gene_variant MELA-AU 1 27559048 27559048 single base substitution G A upstream_gene_variant MELA-AU 1 27559104 27559105 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 27559240 27559240 single base substitution C T upstream_gene_variant MELA-AU 1 27559247 27559247 single base substitution C T upstream_gene_variant MELA-AU 1 27559364 27559364 single base substitution C T upstream_gene_variant MELA-AU 1 27559372 27559372 single base substitution C T upstream_gene_variant MELA-AU 1 27559713 27559713 single base substitution G A upstream_gene_variant MELA-AU 1 27559900 27559900 single base substitution C T upstream_gene_variant MELA-AU 1 27560836 27560836 single base substitution G A upstream_gene_variant MELA-AU 1 27561361 27561361 single base substitution C T 5_prime_UTR_variant MELA-AU 1 27562278 27562278 single base substitution C T intron_variant MELA-AU 1 27562759 27562759 single base substitution C T intron_variant MELA-AU 1 27563562 27563562 single base substitution C T intron_variant MELA-AU 1 27565220 27565220 single base substitution C T intron_variant MELA-AU 1 27565250 27565250 single base substitution T C intron_variant MELA-AU 1 27565357 27565357 single base substitution C T intron_variant MELA-AU 1 27566069 27566069 single base substitution C T intron_variant MELA-AU 1 27566721 27566722 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 27566841 27566842 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 27567010 27567010 single base substitution G A intron_variant MELA-AU 1 27567470 27567470 insertion of <=200bp - AAC intron_variant MELA-AU 1 27567879 27567879 single base substitution C T intron_variant MELA-AU 1 27568464 27568464 single base substitution C T intron_variant MELA-AU 1 27568576 27568576 single base substitution T C intron_variant MELA-AU 1 27568617 27568617 single base substitution C T intron_variant MELA-AU 1 27568999 27568999 single base substitution C T intron_variant MELA-AU 1 27569873 27569873 single base substitution T A intron_variant MELA-AU 1 27570023 27570023 single base substitution C T intron_variant MELA-AU 1 27570658 27570658 single base substitution A T intron_variant MELA-AU 1 27570956 27570956 single base substitution C T intron_variant MELA-AU 1 27571192 27571192 single base substitution C T intron_variant MELA-AU 1 27571888 27571888 single base substitution G A intron_variant MELA-AU 1 27571901 27571902 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 1 27572611 27572611 single base substitution C T intron_variant MELA-AU 1 27572943 27572943 single base substitution A G intron_variant MELA-AU 1 27573847 27573847 single base substitution C T intron_variant MELA-AU 1 27574142 27574142 single base substitution T C intron_variant MELA-AU 1 27574219 27574219 single base substitution T C intron_variant MELA-AU 1 27574320 27574320 single base substitution C T intron_variant MELA-AU 1 27574939 27574939 single base substitution C T intron_variant MELA-AU 1 27575215 27575215 single base substitution A T intron_variant MELA-AU 1 27575255 27575255 single base substitution G C intron_variant MELA-AU 1 27575584 27575584 single base substitution C T intron_variant MELA-AU 1 27575631 27575631 single base substitution A T intron_variant MELA-AU 1 27575653 27575653 single base substitution C T intron_variant MELA-AU 1 27576277 27576277 single base substitution A G intron_variant MELA-AU 1 27577706 27577706 single base substitution C T intron_variant MELA-AU 1 27577788 27577788 single base substitution A T intron_variant MELA-AU 1 27578395 27578396 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 1 27578541 27578565 deletion of <=200bp AAATAAAAAAAACCTACCAGGTGTG - intron_variant MELA-AU 1 27578673 27578673 single base substitution C A intron_variant MELA-AU 1 27579354 27579354 single base substitution C T intron_variant MELA-AU 1 27579627 27579627 single base substitution G A intron_variant MELA-AU 1 27580517 27580517 single base substitution C T intron_variant MELA-AU 1 27581520 27581520 single base substitution C T intron_variant MELA-AU 1 27581527 27581527 single base substitution C T intron_variant MELA-AU 1 27581829 27581829 single base substitution T C intron_variant MELA-AU 1 27582420 27582420 single base substitution C T intron_variant MELA-AU 1 27582566 27582566 single base substitution A T intron_variant MELA-AU 1 27582566 27582566 single base substitution A T upstream_gene_variant MELA-AU 1 27583362 27583362 single base substitution C T intron_variant MELA-AU 1 27583362 27583362 single base substitution C T upstream_gene_variant MELA-AU 1 27583654 27583655 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 27583654 27583655 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 1 27583709 27583710 multiple base substitution (>=2bp and <=200bp) CT AA intron_variant MELA-AU 1 27583709 27583710 multiple base substitution (>=2bp and <=200bp) CT AA upstream_gene_variant MELA-AU 1 27583745 27583745 single base substitution T A intron_variant MELA-AU 1 27583745 27583745 single base substitution T A upstream_gene_variant MELA-AU 1 27584147 27584147 single base substitution G A intron_variant MELA-AU 1 27584147 27584147 single base substitution G A upstream_gene_variant MELA-AU 1 27584200 27584200 single base substitution A G intron_variant MELA-AU 1 27584200 27584200 single base substitution A G upstream_gene_variant MELA-AU 1 27584261 27584261 single base substitution G A intron_variant MELA-AU 1 27584261 27584261 single base substitution G A upstream_gene_variant MELA-AU 1 27584576 27584577 multiple base substitution (>=2bp and <=200bp) GC TT intron_variant MELA-AU 1 27584576 27584577 multiple base substitution (>=2bp and <=200bp) GC TT upstream_gene_variant MELA-AU 1 27584806 27584806 single base substitution C T intron_variant MELA-AU 1 27584806 27584806 single base substitution C T upstream_gene_variant MELA-AU 1 27585090 27585090 single base substitution C T intron_variant MELA-AU 1 27585090 27585090 single base substitution C T upstream_gene_variant MELA-AU 1 27585369 27585369 single base substitution C G intron_variant MELA-AU 1 27585369 27585369 single base substitution C G upstream_gene_variant MELA-AU 1 27585805 27585805 single base substitution C T intron_variant MELA-AU 1 27585805 27585805 single base substitution C T upstream_gene_variant MELA-AU 1 27586086 27586086 single base substitution G A intron_variant MELA-AU 1 27586086 27586086 single base substitution G A upstream_gene_variant MELA-AU 1 27586309 27586309 single base substitution C T intron_variant MELA-AU 1 27586309 27586309 single base substitution C T upstream_gene_variant MELA-AU 1 27586442 27586442 single base substitution C T intron_variant MELA-AU 1 27586442 27586442 single base substitution C T upstream_gene_variant MELA-AU 1 27586501 27586501 single base substitution C T intron_variant MELA-AU 1 27586501 27586501 single base substitution C T upstream_gene_variant MELA-AU 1 27586577 27586577 single base substitution T G intron_variant MELA-AU 1 27586577 27586577 single base substitution T G upstream_gene_variant MELA-AU 1 27586694 27586694 single base substitution C T intron_variant MELA-AU 1 27586694 27586694 single base substitution C T upstream_gene_variant MELA-AU 1 27587443 27587443 single base substitution C T splice_region_variant MELA-AU 1 27587443 27587443 single base substitution C T upstream_gene_variant MELA-AU 1 27587539 27587539 single base substitution A G 5_prime_UTR_variant MELA-AU 1 27588426 27588426 single base substitution T A intron_variant MELA-AU 1 27588753 27588753 single base substitution C T intron_variant MELA-AU 1 27588855 27588855 single base substitution C T intron_variant MELA-AU 1 27589043 27589043 single base substitution C G intron_variant MELA-AU 1 27589110 27589110 single base substitution C T intron_variant MELA-AU 1 27589595 27589595 single base substitution C T intron_variant MELA-AU 1 27589686 27589686 single base substitution A G exon_variant MELA-AU 1 27589686 27589686 single base substitution A G missense_variant D31G 92A>G MELA-AU 1 27590150 27590150 single base substitution C T intron_variant MELA-AU 1 27590160 27590160 single base substitution C T intron_variant MELA-AU 1 27590491 27590491 deletion of <=200bp T - intron_variant MELA-AU 1 27590520 27590520 single base substitution C T intron_variant MELA-AU 1 27590741 27590741 single base substitution T C intron_variant MELA-AU 1 27590991 27590992 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 27591977 27591977 single base substitution A G intron_variant MELA-AU 1 27592110 27592110 single base substitution C T intron_variant MELA-AU 1 27592576 27592576 single base substitution T C intron_variant MELA-AU 1 27592732 27592732 single base substitution T C intron_variant MELA-AU 1 27593098 27593098 single base substitution A G intron_variant MELA-AU 1 27593178 27593178 single base substitution C T intron_variant MELA-AU 1 27593534 27593534 single base substitution C T intron_variant MELA-AU 1 27593549 27593549 single base substitution G A intron_variant MELA-AU 1 27593668 27593668 single base substitution C T intron_variant MELA-AU 1 27593743 27593743 single base substitution T G intron_variant MELA-AU 1 27593827 27593827 single base substitution C T intron_variant MELA-AU 1 27594072 27594072 single base substitution C T intron_variant MELA-AU 1 27595192 27595193 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 27595216 27595216 single base substitution G A intron_variant MELA-AU 1 27595240 27595240 single base substitution C T intron_variant MELA-AU 1 27595304 27595304 single base substitution C T intron_variant MELA-AU 1 27596098 27596098 single base substitution T G intron_variant MELA-AU 1 27596535 27596535 single base substitution C T intron_variant MELA-AU 1 27596922 27596922 single base substitution T G intron_variant MELA-AU 1 27597320 27597320 single base substitution C T intron_variant MELA-AU 1 27597487 27597487 single base substitution G A intron_variant MELA-AU 1 27598440 27598440 single base substitution T G intron_variant MELA-AU 1 27598592 27598592 single base substitution C T intron_variant MELA-AU 1 27599329 27599329 single base substitution G A intron_variant MELA-AU 1 27599405 27599405 single base substitution A G intron_variant MELA-AU 1 27601210 27601210 single base substitution C T intron_variant MELA-AU 1 27601674 27601674 single base substitution C T intron_variant MELA-AU 1 27601755 27601755 single base substitution C T intron_variant MELA-AU 1 27602372 27602372 single base substitution C T intron_variant MELA-AU 1 27603228 27603228 single base substitution C T intron_variant MELA-AU 1 27603306 27603306 single base substitution T A intron_variant MELA-AU 1 27603445 27603445 single base substitution C T intron_variant MELA-AU 1 27604258 27604258 single base substitution C T intron_variant MELA-AU 1 27604394 27604394 single base substitution T C intron_variant MELA-AU 1 27605521 27605521 single base substitution C T intron_variant MELA-AU 1 27605990 27605990 single base substitution G A intron_variant MELA-AU 1 27607010 27607010 single base substitution C T intron_variant MELA-AU 1 27607012 27607012 single base substitution G A intron_variant MELA-AU 1 27608277 27608277 single base substitution C T intron_variant MELA-AU 1 27608797 27608797 single base substitution C T intron_variant MELA-AU 1 27609042 27609042 single base substitution G T intron_variant MELA-AU 1 27609110 27609110 single base substitution C T intron_variant MELA-AU 1 27609258 27609258 single base substitution G A intron_variant MELA-AU 1 27609258 27609258 single base substitution G A upstream_gene_variant MELA-AU 1 27609449 27609449 single base substitution T C intron_variant MELA-AU 1 27609449 27609449 single base substitution T C upstream_gene_variant MELA-AU 1 27609624 27609624 single base substitution C T intron_variant MELA-AU 1 27609624 27609624 single base substitution C T upstream_gene_variant MELA-AU 1 27610853 27610853 single base substitution G A intron_variant MELA-AU 1 27610853 27610853 single base substitution G A upstream_gene_variant MELA-AU 1 27611063 27611063 single base substitution C T intron_variant MELA-AU 1 27611063 27611063 single base substitution C T upstream_gene_variant MELA-AU 1 27611283 27611283 single base substitution G A intron_variant MELA-AU 1 27611283 27611283 single base substitution G A upstream_gene_variant MELA-AU 1 27611344 27611344 single base substitution C T intron_variant MELA-AU 1 27611344 27611344 single base substitution C T upstream_gene_variant MELA-AU 1 27611344 27611345 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 27611344 27611345 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 27611345 27611345 single base substitution C T intron_variant MELA-AU 1 27611345 27611345 single base substitution C T upstream_gene_variant MELA-AU 1 27611810 27611810 single base substitution G A intron_variant MELA-AU 1 27611810 27611810 single base substitution G A upstream_gene_variant MELA-AU 1 27612395 27612395 single base substitution C T intron_variant MELA-AU 1 27612395 27612395 single base substitution C T upstream_gene_variant MELA-AU 1 27612720 27612720 single base substitution C T intron_variant MELA-AU 1 27612720 27612720 single base substitution C T upstream_gene_variant MELA-AU 1 27612840 27612840 single base substitution C T intron_variant MELA-AU 1 27612840 27612840 single base substitution C T upstream_gene_variant MELA-AU 1 27612949 27612949 single base substitution G A intron_variant MELA-AU 1 27612949 27612949 single base substitution G A upstream_gene_variant MELA-AU 1 27612951 27612951 single base substitution T A intron_variant MELA-AU 1 27612951 27612951 single base substitution T A upstream_gene_variant MELA-AU 1 27613003 27613003 single base substitution C T intron_variant MELA-AU 1 27613003 27613003 single base substitution C T upstream_gene_variant MELA-AU 1 27613692 27613692 single base substitution C T intron_variant MELA-AU 1 27613692 27613692 single base substitution C T upstream_gene_variant MELA-AU 1 27614438 27614438 single base substitution C T intron_variant MELA-AU 1 27614678 27614678 single base substitution G A intron_variant MELA-AU 1 27614859 27614859 single base substitution T C intron_variant MELA-AU 1 27614867 27614867 single base substitution C T intron_variant MELA-AU 1 27615441 27615441 single base substitution C T intron_variant MELA-AU 1 27615943 27615943 single base substitution C T intron_variant MELA-AU 1 27616800 27616800 single base substitution C T intron_variant MELA-AU 1 27617249 27617249 single base substitution C T intron_variant MELA-AU 1 27617639 27617639 single base substitution A G intron_variant MELA-AU 1 27618055 27618055 single base substitution C T intron_variant MELA-AU 1 27618610 27618610 single base substitution C T intron_variant MELA-AU 1 27618681 27618681 single base substitution T C intron_variant MELA-AU 1 27618683 27618683 single base substitution C T intron_variant MELA-AU 1 27618754 27618754 single base substitution C T exon_variant MELA-AU 1 27618754 27618754 single base substitution C T synonymous_variant D176D 528C>T MELA-AU 1 27618869 27618869 single base substitution C T exon_variant MELA-AU 1 27618869 27618869 single base substitution C T missense_variant R215C 643C>T MELA-AU 1 27619118 27619118 single base substitution C T intron_variant MELA-AU 1 27619175 27619175 single base substitution C T intron_variant MELA-AU 1 27620571 27620571 single base substitution C T exon_variant MELA-AU 1 27620571 27620571 single base substitution C T missense_variant P241S 721C>T MELA-AU 1 27620998 27620998 single base substitution C T splice_region_variant MELA-AU 1 27621441 27621441 single base substitution G A intron_variant MELA-AU 1 27621505 27621505 single base substitution C T intron_variant MELA-AU 1 27622588 27622591 deletion of <=200bp CAAG - intron_variant MELA-AU 1 27623601 27623601 single base substitution C T exon_variant MELA-AU 1 27623601 27623601 single base substitution C T missense_variant L337F 1009C>T MELA-AU 1 27623601 27623601 single base substitution C T missense_variant L338F 1012C>T MELA-AU 1 27624444 27624444 single base substitution A G exon_variant MELA-AU 1 27624444 27624444 single base substitution A G synonymous_variant L357L 1071A>G MELA-AU 1 27624444 27624444 single base substitution A G synonymous_variant L358L 1074A>G MELA-AU 1 27624889 27624890 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 27625456 27625456 single base substitution A G intron_variant MELA-AU 1 27626326 27626326 single base substitution C T intron_variant MELA-AU 1 27629215 27629215 single base substitution G A intron_variant MELA-AU 1 27629215 27629215 single base substitution G A upstream_gene_variant MELA-AU 1 27629503 27629503 single base substitution C T intron_variant MELA-AU 1 27629503 27629503 single base substitution C T upstream_gene_variant MELA-AU 1 27629648 27629648 single base substitution C T intron_variant MELA-AU 1 27629648 27629648 single base substitution C T upstream_gene_variant MELA-AU 1 27629675 27629675 single base substitution G A intron_variant MELA-AU 1 27629675 27629675 single base substitution G A upstream_gene_variant MELA-AU 1 27629899 27629899 single base substitution C T intron_variant MELA-AU 1 27629899 27629899 single base substitution C T upstream_gene_variant MELA-AU 1 27630562 27630562 single base substitution C T exon_variant MELA-AU 1 27630562 27630562 single base substitution C T intron_variant MELA-AU 1 27630562 27630562 single base substitution C T upstream_gene_variant MELA-AU 1 27630622 27630622 single base substitution C T exon_variant MELA-AU 1 27630622 27630622 single base substitution C T intron_variant MELA-AU 1 27630622 27630622 single base substitution C T upstream_gene_variant MELA-AU 1 27630982 27630982 single base substitution C T exon_variant MELA-AU 1 27630982 27630982 single base substitution C T intron_variant MELA-AU 1 27630982 27630982 single base substitution C T upstream_gene_variant MELA-AU 1 27630994 27630994 single base substitution G A exon_variant MELA-AU 1 27630994 27630994 single base substitution G A intron_variant MELA-AU 1 27630994 27630994 single base substitution G A upstream_gene_variant MELA-AU 1 27631280 27631281 multiple base substitution (>=2bp and <=200bp) GA TG exon_variant MELA-AU 1 27631280 27631281 multiple base substitution (>=2bp and <=200bp) GA TG intron_variant MELA-AU 1 27631280 27631281 multiple base substitution (>=2bp and <=200bp) GA TG upstream_gene_variant MELA-AU 1 27631337 27631337 single base substitution C T exon_variant MELA-AU 1 27631337 27631337 single base substitution C T intron_variant MELA-AU 1 27631337 27631337 single base substitution C T upstream_gene_variant MELA-AU 1 27631507 27631507 single base substitution C T exon_variant MELA-AU 1 27631507 27631507 single base substitution C T intron_variant MELA-AU 1 27631507 27631507 single base substitution C T synonymous_variant I552I 1656C>T MELA-AU 1 27631507 27631507 single base substitution C T synonymous_variant I553I 1659C>T MELA-AU 1 27631576 27631577 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 1 27631576 27631577 multiple base substitution (>=2bp and <=200bp) CC TT stop_gained LQ575L* MELA-AU 1 27631576 27631577 multiple base substitution (>=2bp and <=200bp) CC TT stop_gained LQ576L* MELA-AU 1 27631829 27631829 single base substitution C T intron_variant MELA-AU 1 27632416 27632416 single base substitution C T intron_variant MELA-AU 1 27632598 27632598 single base substitution C T intron_variant MELA-AU 1 27632755 27632755 single base substitution C T 3_prime_UTR_variant MELA-AU 1 27632755 27632755 single base substitution C T exon_variant MELA-AU 1 27632755 27632755 single base substitution C T missense_variant P638S 1912C>T MELA-AU 1 27632755 27632755 single base substitution C T missense_variant P639S 1915C>T MELA-AU 1 27632816 27632817 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 1 27632816 27632817 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 1 27632816 27632817 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant A658V 1973CC>TT MELA-AU 1 27632816 27632817 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant A659V 1976CC>TT MELA-AU 1 27632963 27632963 single base substitution C T 3_prime_UTR_variant MELA-AU 1 27632963 27632963 single base substitution C T exon_variant MELA-AU 1 27632963 27632963 single base substitution C T intron_variant MELA-AU 1 27632988 27632988 single base substitution C T 3_prime_UTR_variant MELA-AU 1 27632988 27632988 single base substitution C T exon_variant MELA-AU 1 27632988 27632988 single base substitution C T intron_variant MELA-AU 1 27633143 27633143 single base substitution C T 3_prime_UTR_variant MELA-AU 1 27633143 27633143 single base substitution C T exon_variant MELA-AU 1 27633143 27633143 single base substitution C T intron_variant MELA-AU 1 27633309 27633309 single base substitution C A 3_prime_UTR_variant MELA-AU 1 27633309 27633309 single base substitution C A exon_variant MELA-AU 1 27633331 27633331 single base substitution C T 3_prime_UTR_variant MELA-AU 1 27633331 27633331 single base substitution C T exon_variant MELA-AU 1 27634087 27634087 single base substitution C T 3_prime_UTR_variant MELA-AU 1 27634087 27634087 single base substitution C T downstream_gene_variant MELA-AU 1 27634087 27634087 single base substitution C T exon_variant MELA-AU 1 27634087 27634087 single base substitution C T intron_variant MELA-AU 1 27634304 27634304 single base substitution C T 3_prime_UTR_variant MELA-AU 1 27634304 27634304 single base substitution C T downstream_gene_variant MELA-AU 1 27634304 27634304 single base substitution C T exon_variant MELA-AU 1 27634304 27634304 single base substitution C T intron_variant MELA-AU 1 27634326 27634326 single base substitution C T 3_prime_UTR_variant MELA-AU 1 27634326 27634326 single base substitution C T downstream_gene_variant MELA-AU 1 27634326 27634326 single base substitution C T exon_variant MELA-AU 1 27634326 27634326 single base substitution C T intron_variant MELA-AU 1 27634335 27634335 single base substitution C T 3_prime_UTR_variant MELA-AU 1 27634335 27634335 single base substitution C T downstream_gene_variant MELA-AU 1 27634335 27634335 single base substitution C T exon_variant MELA-AU 1 27634335 27634335 single base substitution C T intron_variant MELA-AU 1 27634435 27634435 single base substitution C T 3_prime_UTR_variant MELA-AU 1 27634435 27634435 single base substitution C T downstream_gene_variant MELA-AU 1 27634435 27634435 single base substitution C T exon_variant MELA-AU 1 27634435 27634435 single base substitution C T intron_variant MELA-AU 1 27635357 27635357 single base substitution C T downstream_gene_variant MELA-AU 1 27635680 27635680 single base substitution C T downstream_gene_variant MELA-AU 1 27635885 27635885 single base substitution C T downstream_gene_variant MELA-AU 1 27636509 27636509 single base substitution C T downstream_gene_variant MELA-AU 1 27636831 27636831 single base substitution C T downstream_gene_variant MELA-AU 1 27637115 27637115 single base substitution C T downstream_gene_variant MELA-AU 1 27637208 27637208 single base substitution G A downstream_gene_variant MELA-AU 1 27637215 27637215 single base substitution C T downstream_gene_variant MELA-AU 1 27637258 27637258 single base substitution C T downstream_gene_variant MELA-AU 1 27638221 27638221 single base substitution C T downstream_gene_variant MELA-AU 1 27638301 27638301 single base substitution T G downstream_gene_variant MELA-AU 1 27638702 27638702 single base substitution C T downstream_gene_variant MELA-AU 1 27638864 27638864 single base substitution C T downstream_gene_variant MELA-AU 1 27639073 27639073 single base substitution G T downstream_gene_variant MELA-AU 1 27639809 27639809 single base substitution C T downstream_gene_variant MELA-AU 1 27640022 27640022 single base substitution A G downstream_gene_variant ORCA-IN 1 27561889 27561889 single base substitution G C intron_variant ORCA-IN 1 27600337 27600337 single base substitution T C intron_variant ORCA-IN 1 27607059 27607059 single base substitution C G intron_variant ORCA-IN 1 27624836 27624836 single base substitution G A intron_variant OV-AU 1 27556146 27556146 single base substitution T C upstream_gene_variant OV-AU 1 27557204 27557204 single base substitution G A upstream_gene_variant OV-AU 1 27557210 27557210 single base substitution G A upstream_gene_variant OV-AU 1 27557932 27557932 single base substitution C T upstream_gene_variant OV-AU 1 27561322 27561322 single base substitution G A 5_prime_UTR_variant OV-AU 1 27562330 27562330 single base substitution G A intron_variant OV-AU 1 27568822 27568822 single base substitution T G intron_variant OV-AU 1 27575030 27575030 single base substitution G T intron_variant OV-AU 1 27598683 27598683 single base substitution G A intron_variant OV-AU 1 27599251 27599251 single base substitution A G intron_variant OV-AU 1 27601527 27601527 single base substitution T A intron_variant OV-AU 1 27616126 27616126 single base substitution G A intron_variant OV-AU 1 27617962 27617962 single base substitution A T intron_variant OV-AU 1 27623245 27623245 single base substitution A C intron_variant OV-AU 1 27625403 27625403 single base substitution C T intron_variant OV-AU 1 27628945 27628945 single base substitution G C intron_variant OV-AU 1 27628945 27628945 single base substitution G C upstream_gene_variant OV-AU 1 27629178 27629178 single base substitution G C intron_variant OV-AU 1 27629178 27629178 single base substitution G C upstream_gene_variant OV-AU 1 27629449 27629449 single base substitution A C intron_variant OV-AU 1 27629449 27629449 single base substitution A C upstream_gene_variant OV-AU 1 27632114 27632114 single base substitution C A intron_variant OV-AU 1 27635617 27635617 single base substitution C T downstream_gene_variant OV-AU 1 27637755 27637755 single base substitution G A downstream_gene_variant OV-AU 1 27639821 27639821 single base substitution G A downstream_gene_variant OV-US 1 27632830 27632830 single base substitution G A 3_prime_UTR_variant OV-US 1 27632830 27632830 single base substitution G A exon_variant OV-US 1 27632830 27632830 single base substitution G A missense_variant D663N 1987G>A OV-US 1 27632830 27632830 single base substitution G A missense_variant D664N 1990G>A PACA-AU 1 27558204 27558204 single base substitution T A upstream_gene_variant PACA-AU 1 27559262 27559262 single base substitution C T upstream_gene_variant PACA-AU 1 27562523 27562523 single base substitution G A intron_variant PACA-AU 1 27569492 27569492 single base substitution C T intron_variant PACA-AU 1 27580381 27580381 single base substitution A C intron_variant PACA-AU 1 27585034 27585034 single base substitution A G intron_variant PACA-AU 1 27585034 27585034 single base substitution A G upstream_gene_variant PACA-AU 1 27589664 27589664 single base substitution G C exon_variant PACA-AU 1 27589664 27589664 single base substitution G C missense_variant E24Q 70G>C PACA-AU 1 27589718 27589718 single base substitution G T exon_variant PACA-AU 1 27589718 27589718 single base substitution G T stop_gained E42* 124G>T PACA-AU 1 27589751 27589751 single base substitution G C intron_variant PACA-AU 1 27589948 27589948 single base substitution G A intron_variant PACA-AU 1 27590293 27590293 single base substitution G C intron_variant PACA-AU 1 27590305 27590305 single base substitution G A intron_variant PACA-AU 1 27590348 27590348 single base substitution G T intron_variant PACA-AU 1 27596292 27596292 single base substitution G A intron_variant PACA-AU 1 27596807 27596807 single base substitution G T intron_variant PACA-AU 1 27596941 27596941 single base substitution T C intron_variant PACA-AU 1 27609585 27609585 single base substitution C T intron_variant PACA-AU 1 27609585 27609585 single base substitution C T upstream_gene_variant PACA-AU 1 27618059 27618059 single base substitution C T intron_variant PACA-AU 1 27618076 27618076 single base substitution T G intron_variant PACA-AU 1 27621528 27621528 single base substitution C T intron_variant PACA-AU 1 27633848 27633848 single base substitution A C 3_prime_UTR_variant PACA-AU 1 27633848 27633848 single base substitution A C downstream_gene_variant PACA-AU 1 27633848 27633848 single base substitution A C exon_variant PACA-AU 1 27637344 27637344 single base substitution C T downstream_gene_variant PACA-AU 1 27639960 27639960 single base substitution G T downstream_gene_variant PACA-CA 1 27559924 27559924 single base substitution T G upstream_gene_variant PACA-CA 1 27560224 27560224 single base substitution A G upstream_gene_variant PACA-CA 1 27562523 27562523 single base substitution G A intron_variant PACA-CA 1 27563029 27563029 single base substitution T C intron_variant PACA-CA 1 27573557 27573557 insertion of <=200bp - T intron_variant PACA-CA 1 27576237 27576237 single base substitution A G intron_variant PACA-CA 1 27576316 27576316 single base substitution C T intron_variant PACA-CA 1 27584606 27584606 single base substitution C G intron_variant PACA-CA 1 27584606 27584606 single base substitution C G upstream_gene_variant PACA-CA 1 27584883 27584883 single base substitution C T intron_variant PACA-CA 1 27584883 27584883 single base substitution C T upstream_gene_variant PACA-CA 1 27587183 27587183 single base substitution T G intron_variant PACA-CA 1 27587183 27587183 single base substitution T G upstream_gene_variant PACA-CA 1 27588425 27588425 single base substitution T A intron_variant PACA-CA 1 27588824 27588824 single base substitution A G intron_variant PACA-CA 1 27599686 27599686 deletion of <=200bp C - intron_variant PACA-CA 1 27601478 27601478 single base substitution A G intron_variant PACA-CA 1 27602121 27602121 single base substitution A T intron_variant PACA-CA 1 27604637 27604637 single base substitution A G intron_variant PACA-CA 1 27607608 27607608 insertion of <=200bp - C intron_variant PACA-CA 1 27611066 27611067 deletion of <=200bp CT - intron_variant PACA-CA 1 27611066 27611067 deletion of <=200bp CT - upstream_gene_variant PACA-CA 1 27611999 27611999 single base substitution A G intron_variant PACA-CA 1 27611999 27611999 single base substitution A G upstream_gene_variant PACA-CA 1 27621039 27621039 single base substitution C G exon_variant PACA-CA 1 27621039 27621039 single base substitution C G missense_variant N264K 792C>G PACA-CA 1 27621107 27621107 insertion of <=200bp - G exon_variant PACA-CA 1 27621107 27621107 insertion of <=200bp - G frameshift_variant M287S? PACA-CA 1 27622406 27622406 single base substitution G A intron_variant PACA-CA 1 27625707 27625707 single base substitution C T intron_variant PACA-CA 1 27634706 27634706 single base substitution C T 3_prime_UTR_variant PACA-CA 1 27634706 27634706 single base substitution C T downstream_gene_variant PACA-CA 1 27634706 27634706 single base substitution C T exon_variant PACA-CA 1 27635060 27635060 single base substitution G A 3_prime_UTR_variant PACA-CA 1 27635060 27635060 single base substitution G A downstream_gene_variant PACA-CA 1 27635060 27635060 single base substitution G A exon_variant PACA-CA 1 27635764 27635773 deletion of <=200bp CCTCAGCCTC - downstream_gene_variant PACA-CA 1 27639738 27639738 single base substitution C G downstream_gene_variant PACA-CA 1 27639926 27639926 single base substitution A G downstream_gene_variant PAEN-AU 1 27580613 27580613 single base substitution G A intron_variant PAEN-AU 1 27619940 27619940 single base substitution A G intron_variant PAEN-AU 1 27620996 27621002 deletion of <=200bp TCCCTGC - splice_region_variant PAEN-AU 1 27626040 27626040 single base substitution T G intron_variant PAEN-AU 1 27633926 27633926 single base substitution A C 3_prime_UTR_variant PAEN-AU 1 27633926 27633926 single base substitution A C downstream_gene_variant PAEN-AU 1 27633926 27633926 single base substitution A C exon_variant PAEN-IT 1 27590752 27590752 single base substitution C G intron_variant PBCA-DE 1 27557688 27557688 single base substitution G A upstream_gene_variant PBCA-DE 1 27571955 27571955 single base substitution C A intron_variant PBCA-DE 1 27600312 27600313 deletion of <=200bp GT - intron_variant PBCA-DE 1 27603429 27603429 deletion of <=200bp A - intron_variant PBCA-DE 1 27614580 27614580 single base substitution C T intron_variant PBCA-DE 1 27615281 27615281 single base substitution T G intron_variant PBCA-DE 1 27620326 27620326 single base substitution G A intron_variant PBCA-DE 1 27622924 27622924 single base substitution G A intron_variant PBCA-DE 1 27623258 27623258 single base substitution G A intron_variant PBCA-DE 1 27624962 27624962 single base substitution C A intron_variant PBCA-DE 1 27626256 27626256 single base substitution T C intron_variant PBCA-DE 1 27638687 27638687 single base substitution A G downstream_gene_variant PBCA-DE 1 27639668 27639668 single base substitution G A downstream_gene_variant PRAD-CA 1 27577369 27577369 single base substitution C T intron_variant PRAD-CA 1 27577522 27577522 single base substitution T A intron_variant PRAD-CA 1 27588425 27588425 single base substitution T A intron_variant PRAD-CA 1 27596111 27596111 single base substitution G C intron_variant PRAD-CA 1 27603620 27603620 single base substitution C T intron_variant PRAD-CA 1 27607010 27607010 single base substitution C G intron_variant PRAD-CA 1 27624151 27624151 single base substitution A G intron_variant PRAD-UK 1 27561164 27561166 deletion of <=200bp GAG - 5_prime_UTR_variant PRAD-UK 1 27573386 27573386 single base substitution C A intron_variant PRAD-UK 1 27596592 27596592 single base substitution C A intron_variant PRAD-UK 1 27604731 27604731 single base substitution C G intron_variant PRAD-UK 1 27611169 27611169 single base substitution C T intron_variant PRAD-UK 1 27611169 27611169 single base substitution C T upstream_gene_variant PRAD-UK 1 27613310 27613310 deletion of <=200bp T - intron_variant PRAD-UK 1 27613310 27613310 deletion of <=200bp T - upstream_gene_variant PRAD-UK 1 27616869 27616869 single base substitution C A intron_variant PRAD-UK 1 27639837 27639837 single base substitution G C downstream_gene_variant PRAD-US 1 27630137 27630137 single base substitution C T exon_variant PRAD-US 1 27630137 27630137 single base substitution C T synonymous_variant G497G 1491C>T PRAD-US 1 27630137 27630137 single base substitution C T synonymous_variant G498G 1494C>T PRAD-US 1 27630137 27630137 single base substitution C T upstream_gene_variant READ-US 1 27631523 27631523 single base substitution G A exon_variant READ-US 1 27631523 27631523 single base substitution G A intron_variant READ-US 1 27631523 27631523 single base substitution G A missense_variant D558N 1672G>A READ-US 1 27631523 27631523 single base substitution G A missense_variant D559N 1675G>A RECA-EU 1 27559297 27559297 single base substitution C T upstream_gene_variant RECA-EU 1 27575039 27575039 single base substitution C A intron_variant RECA-EU 1 27596472 27596472 single base substitution G C intron_variant RECA-EU 1 27618150 27618150 single base substitution G T intron_variant RECA-EU 1 27628118 27628118 single base substitution C T intron_variant RECA-EU 1 27628118 27628118 single base substitution C T upstream_gene_variant RECA-EU 1 27629988 27629988 single base substitution A G intron_variant RECA-EU 1 27629988 27629988 single base substitution A G upstream_gene_variant SKCA-BR 1 27558500 27558500 single base substitution G A upstream_gene_variant SKCA-BR 1 27558668 27558670 deletion of <=200bp TGG - upstream_gene_variant SKCA-BR 1 27561338 27561338 single base substitution T C 5_prime_UTR_variant SKCA-BR 1 27561490 27561490 single base substitution A G intron_variant SKCA-BR 1 27565489 27565491 deletion of <=200bp CTT - intron_variant SKCA-BR 1 27565810 27565810 single base substitution A C intron_variant SKCA-BR 1 27569582 27569582 single base substitution C A intron_variant SKCA-BR 1 27571718 27571718 single base substitution C T intron_variant SKCA-BR 1 27574203 27574204 deletion of <=200bp CT - intron_variant SKCA-BR 1 27579282 27579282 single base substitution C T intron_variant SKCA-BR 1 27579498 27579500 deletion of <=200bp ATT - intron_variant SKCA-BR 1 27579880 27579880 insertion of <=200bp - TCCCCTC intron_variant SKCA-BR 1 27581163 27581163 single base substitution A T intron_variant SKCA-BR 1 27585883 27585883 single base substitution A C intron_variant SKCA-BR 1 27585883 27585883 single base substitution A C upstream_gene_variant SKCA-BR 1 27587440 27587440 single base substitution C T splice_region_variant SKCA-BR 1 27587440 27587440 single base substitution C T upstream_gene_variant SKCA-BR 1 27595655 27595655 insertion of <=200bp - CA intron_variant SKCA-BR 1 27596097 27596097 insertion of <=200bp - GT intron_variant SKCA-BR 1 27601464 27601464 single base substitution G A intron_variant SKCA-BR 1 27601809 27601809 single base substitution T C intron_variant SKCA-BR 1 27604592 27604592 single base substitution C T intron_variant SKCA-BR 1 27606314 27606314 single base substitution C T intron_variant SKCA-BR 1 27607809 27607809 single base substitution T A intron_variant SKCA-BR 1 27609939 27609939 single base substitution A G missense_variant K97R 290A>G SKCA-BR 1 27609939 27609939 single base substitution A G splice_region_variant SKCA-BR 1 27609939 27609939 single base substitution A G upstream_gene_variant SKCA-BR 1 27610861 27610861 single base substitution T C intron_variant SKCA-BR 1 27610861 27610861 single base substitution T C upstream_gene_variant SKCA-BR 1 27612825 27612825 single base substitution T C intron_variant SKCA-BR 1 27612825 27612825 single base substitution T C upstream_gene_variant SKCA-BR 1 27613186 27613186 single base substitution C T intron_variant SKCA-BR 1 27613186 27613186 single base substitution C T upstream_gene_variant SKCA-BR 1 27615404 27615404 single base substitution C T intron_variant SKCA-BR 1 27615517 27615517 single base substitution G A intron_variant SKCA-BR 1 27615566 27615566 single base substitution A G intron_variant SKCA-BR 1 27615665 27615665 single base substitution A C intron_variant SKCA-BR 1 27619778 27619778 single base substitution C T intron_variant SKCA-BR 1 27619903 27619903 single base substitution G A intron_variant SKCA-BR 1 27629752 27629752 insertion of <=200bp - CA intron_variant SKCA-BR 1 27629752 27629752 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 1 27633115 27633115 single base substitution C T 3_prime_UTR_variant SKCA-BR 1 27633115 27633115 single base substitution C T exon_variant SKCA-BR 1 27633115 27633115 single base substitution C T intron_variant SKCA-BR 1 27633116 27633116 single base substitution C T 3_prime_UTR_variant SKCA-BR 1 27633116 27633116 single base substitution C T exon_variant SKCA-BR 1 27633116 27633116 single base substitution C T intron_variant SKCA-BR 1 27634109 27634109 single base substitution C T 3_prime_UTR_variant SKCA-BR 1 27634109 27634109 single base substitution C T downstream_gene_variant SKCA-BR 1 27634109 27634109 single base substitution C T exon_variant SKCA-BR 1 27634109 27634109 single base substitution C T intron_variant SKCA-BR 1 27634334 27634334 single base substitution T C 3_prime_UTR_variant SKCA-BR 1 27634334 27634334 single base substitution T C downstream_gene_variant SKCA-BR 1 27634334 27634334 single base substitution T C exon_variant SKCA-BR 1 27634334 27634334 single base substitution T C intron_variant SKCA-BR 1 27639773 27639773 single base substitution A T downstream_gene_variant SKCM-US 1 27618754 27618754 single base substitution C T exon_variant SKCM-US 1 27618754 27618754 single base substitution C T synonymous_variant D176D 528C>T SKCM-US 1 27618877 27618877 single base substitution C T exon_variant SKCM-US 1 27618877 27618877 single base substitution C T synonymous_variant I217I 651C>T SKCM-US 1 27620574 27620574 single base substitution C T exon_variant SKCM-US 1 27620574 27620574 single base substitution C T missense_variant L242F 724C>T SKCM-US 1 27622887 27622887 single base substitution C T exon_variant SKCM-US 1 27622887 27622887 single base substitution C T missense_variant S315L 944C>T SKCM-US 1 27630175 27630175 single base substitution C T exon_variant SKCM-US 1 27630175 27630175 single base substitution C T missense_variant S510F 1529C>T SKCM-US 1 27630175 27630175 single base substitution C T missense_variant S511F 1532C>T SKCM-US 1 27630175 27630175 single base substitution C T upstream_gene_variant SKCM-US 1 27630176 27630176 single base substitution C T exon_variant SKCM-US 1 27630176 27630176 single base substitution C T synonymous_variant S510S 1530C>T SKCM-US 1 27630176 27630176 single base substitution C T synonymous_variant S511S 1533C>T SKCM-US 1 27630176 27630176 single base substitution C T upstream_gene_variant SKCM-US 1 27631507 27631507 single base substitution C T exon_variant SKCM-US 1 27631507 27631507 single base substitution C T intron_variant SKCM-US 1 27631507 27631507 single base substitution C T synonymous_variant I552I 1656C>T SKCM-US 1 27631507 27631507 single base substitution C T synonymous_variant I553I 1659C>T SKCM-US 1 27631591 27631591 single base substitution C T exon_variant SKCM-US 1 27631591 27631591 single base substitution C T synonymous_variant S580S 1740C>T SKCM-US 1 27631591 27631591 single base substitution C T synonymous_variant S581S 1743C>T STAD-US 1 27589647 27589647 single base substitution G A exon_variant STAD-US 1 27589647 27589647 single base substitution G A missense_variant R18Q 53G>A STAD-US 1 27609836 27609836 single base substitution G A exon_variant STAD-US 1 27609836 27609836 single base substitution G A missense_variant A63T 187G>A STAD-US 1 27609836 27609836 single base substitution G A upstream_gene_variant STAD-US 1 27614178 27614178 single base substitution C G exon_variant STAD-US 1 27614178 27614178 single base substitution C G missense_variant A102G 305C>G STAD-US 1 27614178 27614178 single base substitution C G upstream_gene_variant STAD-US 1 27618840 27618840 single base substitution G A exon_variant STAD-US 1 27618840 27618840 single base substitution G A missense_variant S205N 614G>A STAD-US 1 27620601 27620601 single base substitution G A exon_variant STAD-US 1 27620601 27620601 single base substitution G A missense_variant V251I 751G>A STAD-US 1 27621108 27621108 insertion of <=200bp - G exon_variant STAD-US 1 27621108 27621108 insertion of <=200bp - G frameshift_variant M287M? STAD-US 1 27622888 27622888 insertion of <=200bp - G exon_variant STAD-US 1 27622888 27622888 insertion of <=200bp - G frameshift_variant S315S? STAD-US 1 27624461 27624461 single base substitution G A exon_variant STAD-US 1 27624461 27624461 single base substitution G A missense_variant R363H 1088G>A STAD-US 1 27624461 27624461 single base substitution G A missense_variant R364H 1091G>A STAD-US 1 27624505 27624505 single base substitution A G exon_variant STAD-US 1 27624505 27624505 single base substitution A G missense_variant T378A 1132A>G STAD-US 1 27624505 27624505 single base substitution A G missense_variant T379A 1135A>G STAD-US 1 27627827 27627827 single base substitution A G exon_variant STAD-US 1 27627827 27627827 single base substitution A G missense_variant Y447C 1340A>G STAD-US 1 27627827 27627827 single base substitution A G missense_variant Y448C 1343A>G STAD-US 1 27627827 27627827 single base substitution A G upstream_gene_variant STAD-US 1 27630202 27630202 single base substitution G A exon_variant STAD-US 1 27630202 27630202 single base substitution G A missense_variant R519Q 1556G>A STAD-US 1 27630202 27630202 single base substitution G A missense_variant R520Q 1559G>A STAD-US 1 27630202 27630202 single base substitution G A upstream_gene_variant STAD-US 1 27630238 27630238 single base substitution G A exon_variant STAD-US 1 27630238 27630238 single base substitution G A missense_variant G531D 1592G>A STAD-US 1 27630238 27630238 single base substitution G A missense_variant G532D 1595G>A STAD-US 1 27630238 27630238 single base substitution G A upstream_gene_variant STAD-US 1 27631505 27631505 single base substitution A G exon_variant STAD-US 1 27631505 27631505 single base substitution A G intron_variant STAD-US 1 27631505 27631505 single base substitution A G missense_variant I552V 1654A>G STAD-US 1 27631505 27631505 single base substitution A G missense_variant I553V 1657A>G THCA-US 1 27620562 27620562 single base substitution C T exon_variant THCA-US 1 27620562 27620562 single base substitution C T missense_variant R238W 712C>T UCEC-US 1 27589701 27589701 single base substitution G A exon_variant UCEC-US 1 27589701 27589701 single base substitution G A missense_variant R36Q 107G>A UCEC-US 1 27609861 27609861 single base substitution C T exon_variant UCEC-US 1 27609861 27609861 single base substitution C T missense_variant T71M 212C>T UCEC-US 1 27609861 27609861 single base substitution C T upstream_gene_variant UCEC-US 1 27614297 27614297 single base substitution A G exon_variant UCEC-US 1 27614297 27614297 single base substitution A G missense_variant T142A 424A>G UCEC-US 1 27618814 27618814 single base substitution C T exon_variant UCEC-US 1 27618814 27618814 single base substitution C T synonymous_variant D196D 588C>T UCEC-US 1 27620555 27620555 single base substitution C T exon_variant UCEC-US 1 27620555 27620555 single base substitution C T synonymous_variant F235F 705C>T UCEC-US 1 27621038 27621038 single base substitution A G exon_variant UCEC-US 1 27621038 27621038 single base substitution A G missense_variant N264S 791A>G UCEC-US 1 27622848 27622848 single base substitution G A exon_variant UCEC-US 1 27622848 27622848 single base substitution G A missense_variant R302Q 905G>A UCEC-US 1 27623546 27623546 single base substitution G A exon_variant UCEC-US 1 27623546 27623546 single base substitution G A synonymous_variant Q318Q 954G>A UCEC-US 1 27623546 27623546 single base substitution G A synonymous_variant Q319Q 957G>A UCEC-US 1 27623580 27623580 single base substitution G A exon_variant UCEC-US 1 27623580 27623580 single base substitution G A missense_variant G330S 988G>A UCEC-US 1 27623580 27623580 single base substitution G A missense_variant G331S 991G>A UCEC-US 1 27624477 27624477 single base substitution C T exon_variant UCEC-US 1 27624477 27624477 single base substitution C T synonymous_variant A368A 1104C>T UCEC-US 1 27624477 27624477 single base substitution C T synonymous_variant A369A 1107C>T UCEC-US 1 27627865 27627865 single base substitution G T exon_variant UCEC-US 1 27627865 27627865 single base substitution G T missense_variant G460W 1378G>T UCEC-US 1 27627865 27627865 single base substitution G T missense_variant G461W 1381G>T UCEC-US 1 27627865 27627865 single base substitution G T upstream_gene_variant UCEC-US 1 27627870 27627870 single base substitution A T exon_variant UCEC-US 1 27627870 27627870 single base substitution A T missense_variant K461N 1383A>T UCEC-US 1 27627870 27627870 single base substitution A T missense_variant K462N 1386A>T UCEC-US 1 27627870 27627870 single base substitution A T upstream_gene_variant UCEC-US 1 27630278 27630278 single base substitution C A exon_variant UCEC-US 1 27630278 27630278 single base substitution C A missense_variant F544L 1632C>A UCEC-US 1 27630278 27630278 single base substitution C A missense_variant F545L 1635C>A UCEC-US 1 27630278 27630278 single base substitution C A upstream_gene_variant UCEC-US 1 27631507 27631507 single base substitution C T exon_variant UCEC-US 1 27631507 27631507 single base substitution C T intron_variant UCEC-US 1 27631507 27631507 single base substitution C T synonymous_variant I552I 1656C>T UCEC-US 1 27631507 27631507 single base substitution C T synonymous_variant I553I 1659C>T UCEC-US 1 27631560 27631560 single base substitution A G exon_variant UCEC-US 1 27631560 27631560 single base substitution A G missense_variant N570S 1709A>G UCEC-US 1 27631560 27631560 single base substitution A G missense_variant N571S 1712A>G UCEC-US 1 27631607 27631607 single base substitution C T exon_variant UCEC-US 1 27631607 27631607 single base substitution C T stop_gained Q586* 1756C>T UCEC-US 1 27631607 27631607 single base substitution C T stop_gained Q587* 1759C>T UCEC-US 1 27631648 27631648 single base substitution C T exon_variant UCEC-US 1 27631648 27631648 single base substitution C T synonymous_variant I599I 1797C>T UCEC-US 1 27631648 27631648 single base substitution C T synonymous_variant I600I 1800C>T UCEC-US 1 27632780 27632780 single base substitution T C 3_prime_UTR_variant UCEC-US 1 27632780 27632780 single base substitution T C exon_variant UCEC-US 1 27632780 27632780 single base substitution T C missense_variant M646T 1937T>C UCEC-US 1 27632780 27632780 single base substitution T C missense_variant M647T 1940T>C UCEC-US 1 27632827 27632827 single base substitution G A 3_prime_UTR_variant UCEC-US 1 27632827 27632827 single base substitution G A exon_variant UCEC-US 1 27632827 27632827 single base substitution G A missense_variant D662N 1984G>A UCEC-US 1 27632827 27632827 single base substitution G A missense_variant D663N 1987G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand CHC1747T COSM4788046 c.535G>A p.E179K Substitution - Missense 1:27292270-27292270 + TCGA-HU-A4GT-01 COSM4031085 c.1654A>G p.I552V Substitution - Missense 1:27305014-27305014 + YUMOBER COSM2235857 c.2020C>T p.R674W Substitution - Missense 1:27306372-27306372 + pfg122T COSM1192853 c.861delG p.E290fs*8 Deletion - Frameshift 1:27294617-27294617 + TCGA-D1-A167-01 COSM907830 c.212C>T p.T71M Substitution - Missense 1:27283370-27283370 + TCGA-JW-A5VL-01 COSM4847848 c.886G>C p.D296H Substitution - Missense 1:27296338-27296338 + TCGA-46-6026-01 COSM680153 c.160G>T p.E54* Substitution - Nonsense 1:27282266-27282266 + TCGA-G2-A2EC-01 COSM1296241 c.954G>C p.Q318H Substitution - Missense 1:27297055-27297055 + 585208 COSM326881 c.1621G>A p.E541K Substitution - Missense 1:27303776-27303776 + ESCC_31 COSM5627709 c.1980C>T p.A660A Substitution - coding silent 1:27306332-27306332 + TCGA-AP-A05H-01 COSM907847 c.1984G>A p.D662N Substitution - Missense 1:27306336-27306336 + TCGA-EP-A2KA-01 COSM4917589 c.1377A>G p.K459K Substitution - coding silent 1:27301373-27301373 + C086 COSM5541756 c.1325T>A p.L442H Substitution - Missense 1:27301321-27301321 + C086 COSM907842 c.1656C>T p.I552I Substitution - coding silent 1:27305016-27305016 + 61 COSM5735341 c.516G>T p.E172D Substitution - Missense 1:27292251-27292251 + TCGA-G9-6338-01 COSM3671706 c.952C>A p.Q318K Substitution - Missense 1:27297053-27297053 + PCSI_0492_Pa_P_526 COSM4808033 c.792C>G p.N264K Substitution - Missense 1:27294548-27294548 + 2492721 COSM5719219 c.652C>T p.H218Y Substitution - Missense 1:27292387-27292387 + SC_9081 COSM5572971 c.874-1G>T p.? Unknown 1:27296325-27296325 + TCGA-D1-A167-01 COSM907835 c.905G>A p.R302Q Substitution - Missense 1:27296357-27296357 + pfg127T COSM4765112 c.861_862insG p.E290fs*7 Insertion - Frameshift 1:27294617-27294618 + TCGA-AU-6004-01 COSM1341477 c.1858G>A p.V620M Substitution - Missense 1:27306210-27306210 + COLO320-DM COSM2235822 c.624C>T p.F208F Substitution - coding silent 1:27292359-27292359 + TCGA-AM-5820-01 COSM1473826 c.860_861insG p.E290fs*7 Insertion - Frameshift 1:27294616-27294617 + ESCC-158T COSM3934652 c.1845C>T p.L615L Substitution - coding silent 1:27306197-27306197 + Pat_24_A COSM5846242 c.1189C>T p.L397F Substitution - Missense 1:27298071-27298071 + HCC174T COSM3705752 c.1969G>A p.G657S Substitution - Missense 1:27306321-27306321 + Pat_44_B COSM4236281 c.868G>A p.E290K Substitution - Missense 1:27294624-27294624 + PTC-14C COSM4143747 c.78C>A p.R26R Substitution - coding silent 1:27263181-27263181 + TCGA-D1-A167-01 COSM907832 c.588C>T p.D196D Substitution - coding silent 1:27292323-27292323 + TCGA-GF-A6C9-06 COSM4903016 c.724C>T p.L242F Substitution - Missense 1:27294083-27294083 + I2L-P19Ta-Tumor-Biopsy COSM5352429 c.1821delC p.R609fs*26 Deletion - Frameshift 1:27305181-27305181 + TCGA-BR-8591-01 COSM4031080 c.1088G>A p.R363H Substitution - Missense 1:27297970-27297970 + TCGA-A8-A097-01 COSM1473826 c.860_861insG p.E290fs*7 Insertion - Frameshift 1:27294616-27294617 + TCGA-HU-A4H8-01 COSM4031079 c.751G>A p.V251I Substitution - Missense 1:27294110-27294110 + YUVEME COSM5380538 c.328G>A p.G110R Substitution - Missense 1:27287710-27287710 + 2492722 COSM5719219 c.652C>T p.H218Y Substitution - Missense 1:27292387-27292387 + PD8984a COSM5800767 c.558G>C p.E186D Substitution - Missense 1:27292293-27292293 + TCGA-AD-6901-01 COSM1341478 c.2021G>T p.R674L Substitution - Missense 1:27306373-27306373 + TCGA-CG-5721-01 COSM4031076 c.187G>A p.A63T Substitution - Missense 1:27283345-27283345 + HCA7 COSM2235819 c.271G>A p.A91T Substitution - Missense 1:27283429-27283429 + TCGA-EE-A3JA-06 COSM2235831 c.944C>T p.S315L Substitution - Missense 1:27296396-27296396 + TCGA-LP-A5U3-01 COSM4850191 c.165G>A p.W55* Substitution - Nonsense 1:27282271-27282271 + TCGA-23-1022-01 COSM77015 c.1987G>A p.D663N Substitution - Missense 1:27306339-27306339 + 8016470 COSM3386066 c.70G>C p.E24Q Substitution - Missense 1:27263173-27263173 + TCGA-BG-A18B-01 COSM907829 c.107G>A p.R36Q Substitution - Missense 1:27263210-27263210 + T2 COSM5618011 c.1570G>T p.D524Y Substitution - Missense 1:27303725-27303725 + 2492723 COSM5719220 c.1675G>A p.G559S Substitution - Missense 1:27305035-27305035 + tumor_4177376 COSM5947661 c.873+2T>A p.? Unknown 1:27294631-27294631 + pfg016T COSM1639827 c.1310G>A p.R437H Substitution - Missense 1:27301306-27301306 + ESCC_156 COSM5645928 c.1434C>G p.I478M Substitution - Missense 1:27301430-27301430 + S00934 COSM5662619 c.2022G>T p.R674R Substitution - coding silent 1:27306374-27306374 + TCGA-AZ-6598-01 COSM1192853 c.861delG p.E290fs*8 Deletion - Frameshift 1:27294617-27294617 + TCGA-C5-A1ME-01 COSM4820586 c.1445T>A p.L482H Substitution - Missense 1:27301441-27301441 + TCGA-DK-A3IQ-01 COSM1296243 c.1831G>C p.E611Q Substitution - Missense 1:27305191-27305191 + RK119_C01 COSM3741209 c.903G>T p.Q301H Substitution - Missense 1:27296355-27296355 + Pat_26_A COSM5846243 c.1319G>A p.R440H Substitution - Missense 1:27301315-27301315 + S0004 COSM907843 c.1709A>G p.N570S Substitution - Missense 1:27305069-27305069 + TCGA-AX-A05Z-01 COSM907841 c.1632C>A p.F544L Substitution - Missense 1:27303787-27303787 + TCGA-AP-A059-01 COSM907837 c.988G>A p.G330S Substitution - Missense 1:27297089-27297089 + TCGA-EE-A2GC-06 COSM3487657 c.1740C>T p.S580S Substitution - coding silent 1:27305100-27305100 + TCGA-A6-5665-01 COSM1192853 c.861delG p.E290fs*8 Deletion - Frameshift 1:27294617-27294617 + RK308_C01 COSM3741208 c.184C>T p.L62L Substitution - coding silent 1:27283342-27283342 + TCGA-GF-A6C9-06 COSM4901757 c.1530C>T p.S510S Substitution - coding silent 1:27303685-27303685 + 2492721 COSM5719220 c.1675G>A p.G559S Substitution - Missense 1:27305035-27305035 + CSCC-19-T COSM4532814 c.1918G>A p.E640K Substitution - Missense 1:27306270-27306270 + PDA_096 COSM5003282 c.1431C>A p.D477E Substitution - Missense 1:27301427-27301427 + TCGA-A3-3324-01 COSM1134877 c.988G>C p.G330R Substitution - Missense 1:27297089-27297089 + RK308_C01 COSM3741210 c.1610C>T p.T537M Substitution - Missense 1:27303765-27303765 + TCGA-DM-A1HA-01 COSM1341476 c.1583G>A p.R528H Substitution - Missense 1:27303738-27303738 + TCGA-KK-A59V-01 COSM4878459 c.1491C>T p.G497G Substitution - coding silent 1:27303646-27303646 + TCGA-BK-A0C9-01 COSM907836 c.954G>A p.Q318Q Substitution - coding silent 1:27297055-27297055 + CSCC-31-T COSM4567059 c.53_54GG>AA p.R18Q Substitution - Missense 1:27263156-27263157 + TCGA-AZ-6598-01 COSM1341474 c.213G>A p.T71T Substitution - coding silent 1:27283371-27283371 + TCGA-39-5031-01 COSM680152 c.552G>T p.L184L Substitution - coding silent 1:27292287-27292287 + T3080 COSM4741146 c.1793G>C p.G598A Substitution - Missense 1:27305153-27305153 + YULAN COSM1687277 c.1880C>T p.S627L Substitution - Missense 1:27306232-27306232 + 1238_T COSM3977553 c.558G>A p.E186E Substitution - coding silent 1:27292293-27292293 + YUBER COSM1687276 c.191C>T p.S64F Substitution - Missense 1:27283349-27283349 + ESCC-139T COSM2235846 c.1555C>T p.R519W Substitution - Missense 1:27303710-27303710 + YUMOBER COSM5380540 c.2019C>T p.C673C Substitution - coding silent 1:27306371-27306371 + TCGA-FS-A1ZS-06 COSM3487655 c.651C>T p.I217I Substitution - coding silent 1:27292386-27292386 + TCGA-AC-A23H-01 COSM1341475 c.1369G>A p.D457N Substitution - Missense 1:27301365-27301365 + YUJUBE COSM5380539 c.793C>T p.R265C Substitution - Missense 1:27294549-27294549 + PD8618a COSM5779169 c.2002G>A p.E668K Substitution - Missense 1:27306354-27306354 + TCGA-D1-A160-01 COSM907831 c.424A>G p.T142A Substitution - Missense 1:27287806-27287806 + TCGA-CD-A4MG-01 COSM4031084 c.1592G>A p.G531D Substitution - Missense 1:27303747-27303747 + I2L-P19Tb-Tumor-Biopsy COSM5353049 c.1919A>G p.E640G Substitution - Missense 1:27306271-27306271 + I2L-P19Tb-Tumor-Organoid COSM5353049 c.1919A>G p.E640G Substitution - Missense 1:27306271-27306271 + RK061_C01 COSM1626997 c.117G>T p.L39L Substitution - coding silent 1:27263220-27263220 + STC297 COSM1192853 c.861delG p.E290fs*8 Deletion - Frameshift 1:27294617-27294617 + S00501 COSM4765112 c.861_862insG p.E290fs*7 Insertion - Frameshift 1:27294617-27294618 + TCGA-AZ-6601-01 COSM1341475 c.1369G>A p.D457N Substitution - Missense 1:27301365-27301365 + TCGA-EE-A183-06 COSM3487656 c.1529C>T p.S510F Substitution - Missense 1:27303684-27303684 + cSCCP5 COSM137766 c.1076C>T p.P359L Substitution - Missense 1:27297958-27297958 + PT36 COSM5914837 c.251C>T p.S84F Substitution - Missense 1:27283409-27283409 + TBR05 COSM4031075 c.53G>A p.R18Q Substitution - Missense 1:27263156-27263156 + CSCC-20-T COSM1473826 c.860_861insG p.E290fs*7 Insertion - Frameshift 1:27294616-27294617 + RK061_C01 COSM1626998 c.118G>T p.E40* Substitution - Nonsense 1:27263221-27263221 + RMS105_ COSM4986398 c.869A>G p.E290G Substitution - Missense 1:27294625-27294625 + TCGA-B5-A0JY-01 COSM907845 c.1797C>T p.I599I Substitution - coding silent 1:27305157-27305157 + Au5 COSM5606192 c.1779C>T p.F593F Substitution - coding silent 1:27305139-27305139 + SNUH_G45_S1 COSM3997463 c.6G>A p.A2A Substitution - coding silent 1:27261060-27261060 + TCGA-A6-6781-01 COSM1192853 c.861delG p.E290fs*8 Deletion - Frameshift 1:27294617-27294617 + PD7249a COSM4765112 c.861_862insG p.E290fs*7 Insertion - Frameshift 1:27294617-27294618 + 2492722 COSM5719220 c.1675G>A p.G559S Substitution - Missense 1:27305035-27305035 + 2492720 COSM5719220 c.1675G>A p.G559S Substitution - Missense 1:27305035-27305035 + TCGA-AD-6889-01 COSM1192853 c.861delG p.E290fs*8 Deletion - Frameshift 1:27294617-27294617 + T3202 COSM4741147 c.1953G>A p.T651T Substitution - coding silent 1:27306305-27306305 + ESO-160 COSM1270450 c.942_943insT p.S315fs*25 Insertion - Frameshift 1:27296394-27296395 + S02244 COSM5678040 c.2011G>A p.V671M Substitution - Missense 1:27306363-27306363 + Br27P COSM40766 c.1118C>T p.A373V Substitution - Missense 1:27298000-27298000 + SC_9103 COSM5549789 c.1207G>A p.A403T Substitution - Missense 1:27298089-27298089 + TCGA-EE-A3JD-06 COSM907842 c.1656C>T p.I552I Substitution - coding silent 1:27305016-27305016 + TCGA-AP-A0LM-01 COSM907842 c.1656C>T p.I552I Substitution - coding silent 1:27305016-27305016 + CSCC-31-T COSM4502726 c.620C>T p.P207L Substitution - Missense 1:27292355-27292355 + B80-Tumor COSM1748316 c.1582C>T p.R528C Substitution - Missense 1:27303737-27303737 + TCGA-BR-7703-01 COSM4031075 c.53G>A p.R18Q Substitution - Missense 1:27263156-27263156 + TCGA-AP-A0LE-01 COSM907844 c.1756C>T p.Q586* Substitution - Nonsense 1:27305116-27305116 + 2492720 COSM5719219 c.652C>T p.H218Y Substitution - Missense 1:27292387-27292387 + Pat_28_B COSM5846244 c.1732G>A p.D578N Substitution - Missense 1:27305092-27305092 + TCGA-AZ-6601-01 COSM1192853 c.861delG p.E290fs*8 Deletion - Frameshift 1:27294617-27294617 + VLTS-1 COSM5702888 c.450C>A p.F150L Substitution - Missense 1:27287832-27287832 + 40M COSM5586999 c.1659C>T p.V553V Substitution - coding silent 1:27305019-27305019 + CSCC-16-T COSM2235819 c.271G>A p.A91T Substitution - Missense 1:27283429-27283429 + TCGA-D1-A103-01 COSM907846 c.1937T>C p.M646T Substitution - Missense 1:27306289-27306289 + 18 COSM1192853 c.861delG p.E290fs*8 Deletion - Frameshift 1:27294617-27294617 + CSCC-10-T COSM4501124 c.580C>T p.P194S Substitution - Missense 1:27292315-27292315 + TCGA-AP-A0LM-01 COSM907843 c.1709A>G p.N570S Substitution - Missense 1:27305069-27305069 + TCGA-AP-A059-01 COSM907833 c.705C>T p.F235F Substitution - coding silent 1:27294064-27294064 + PD4875a COSM1341477 c.1858G>A p.V620M Substitution - Missense 1:27306210-27306210 + TCGA-BR-6852-01 COSM4031077 c.305C>G p.A102G Substitution - Missense 1:27287687-27287687 + TCGA-HU-8602-01 COSM4031081 c.1132A>G p.T378A Substitution - Missense 1:27298014-27298014 + TCGA-BR-6452-01 COSM4031082 c.1340A>G p.Y447C Substitution - Missense 1:27301336-27301336 + TCGA-B5-A0JV-01 COSM907839 c.1378G>T p.G460W Substitution - Missense 1:27301374-27301374 + HCC174 COSM3705752 c.1969G>A p.G657S Substitution - Missense 1:27306321-27306321 + I2L-P19Ta-Tumor-Organoid COSM5352429 c.1821delC p.R609fs*26 Deletion - Frameshift 1:27305181-27305181 + TCGA-EE-A2MD-06 COSM3487654 c.528C>T p.D176D Substitution - coding silent 1:27292263-27292263 + T24 COSM5342223 c.339C>T p.D113D Substitution - coding silent 1:27287721-27287721 + H838 COSM1193159 c.1556G>T p.R519L Substitution - Missense 1:27303711-27303711 + B80 COSM1748316 c.1582C>T p.R528C Substitution - Missense 1:27303737-27303737 + HCC3T COSM1602168 c.874-5T>G p.? Unknown 1:27296321-27296321 + ESO-157 COSM77015 c.1987G>A p.D663N Substitution - Missense 1:27306339-27306339 + RK083_C01 COSM1626996 c.112G>A p.G38S Substitution - Missense 1:27263215-27263215 + EGC8 COSM1192853 c.861delG p.E290fs*8 Deletion - Frameshift 1:27294617-27294617 + SS6003314 COSM4127662 c.758-8C>G p.? Unknown 1:27294506-27294506 + CPCG0183-P2 COSM2235856 c.1952C>T p.T651M Substitution - Missense 1:27306304-27306304 + TCGA-DK-A3IQ-01 COSM1296242 c.996C>T p.S332S Substitution - coding silent 1:27297097-27297097 + TCGA-AP-A051-01 COSM907840 c.1383A>T p.K461N Substitution - Missense 1:27301379-27301379 + T368 COSM4741145 c.303C>T p.H101H Substitution - coding silent 1:27287685-27287685 + TCGA-DJ-A1QM-01 COSM3369671 c.712C>T p.R238W Substitution - Missense 1:27294071-27294071 + BD124T COSM1192853 c.861delG p.E290fs*8 Deletion - Frameshift 1:27294617-27294617 + 68 COSM5014086 c.38G>A p.R13K Substitution - Missense 1:27261092-27261092 + TCGA-F1-6874-01 COSM4031078 c.614G>A p.S205N Substitution - Missense 1:27292349-27292349 + TCGA-BR-8078-01 COSM4031083 c.1556G>A p.R519Q Substitution - Missense 1:27303711-27303711 + PT36 COSM5914836 c.1525G>A p.D509N Substitution - Missense 1:27303680-27303680 + TCGA-B5-A11E-01 COSM907838 c.1104C>T p.A368A Substitution - coding silent 1:27297986-27297986 + BZ12 COSM3804840 c.1201C>T p.R401* Substitution - Nonsense 1:27298083-27298083 + ESCC_58 COSM5632476 c.336C>T p.A112A Substitution - coding silent 1:27287718-27287718 + 8016470 COSM3386067 c.124G>T p.E42* Substitution - Nonsense 1:27263227-27263227 + TCGA-AA-3663-01 COSM1192853 c.861delG p.E290fs*8 Deletion - Frameshift 1:27294617-27294617 + 2492723 COSM5719219 c.652C>T p.H218Y Substitution - Missense 1:27292387-27292387 + HCC3 COSM1602168 c.874-5T>G p.? Unknown 1:27296321-27296321 + TCGA-B0-4822-01 COSM3360811 c.27C>T p.D9D Substitution - coding silent 1:27261081-27261081 + TCGA-EI-6507-01 COSM1560689 c.1672G>A p.D558N Substitution - Missense 1:27305032-27305032 + H1155 COSM1195393 c.304G>A p.A102T Substitution - Missense 1:27287686-27287686 + HCC055T COSM5823865 c.83A>G p.H28R Substitution - Missense 1:27263186-27263186 + TCGA-D8-A1XQ-01 COSM3804840 c.1201C>T p.R401* Substitution - Nonsense 1:27298083-27298083 + CHC1747T COSM4788046 c.535G>A p.E179K Substitution - Missense 1:27292270-27292270 + TCGA-AP-A059-01 COSM907834 c.791A>G p.N264S Substitution - Missense 1:27294547-27294547 + HCC2998 COSM2235850 c.1761A>G p.P587P Substitution - coding silent 1:27305121-27305121 + TCGA-BH-A18G-01 COSM3804839 c.912C>T p.Y304Y Substitution - coding silent 1:27296364-27296364 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.469154 1p36.11

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.K80Q c.238A>C 1 27609887 LUAD A G Missense p.T142A c.424A>G 1 27614297 UCEC - AT Frameshift p.I127Nfs*12 c.379_380insAT 1 27614252 HNSC C - 3-UTRDeletion . c.2028+1085delC 1 27633952 STAD C A Missense p.Q318K c.952C>A 1 27623544 PRAD C A Nonsense p.C312* c.936C>A 1 27622879 COREAD C G 3-UTRSNV . c.2028+53C>G 1 27632924 CM C G IntronicSNV . c.132+8220C>G 1 27597946 CLL C G Missense p.A102G c.305C>G 1 27614178 STAD C G Missense p.F98L c.294C>G 1 27614167 HNSC C T IntronicSNV . c.1640+3C>T 1 27630289 CM C T Missense p.A373V c.1118C>T 1 27624491 GBM C T Missense p.P243L c.728C>T 1 27620578 STAD C T Missense p.R238W c.712C>T 1 27620562 THCA C T Missense p.S314F c.941C>T 1 27622884 CM C T Missense p.S315L c.944C>T 1 27622887 CM C T Missense p.S510F c.1529C>T 1 27630175 CM C T Nonsense p.Q586* c.1756C>T 1 27631607 UCEC C T Synonymous p.C673C c.2019C>T 1 27632862 CM C T Synonymous p.D176D c.528C>T 1 27618754 CM C T Synonymous p.D244D c.732C>T 1 27620582 COREAD C T Synonymous p.D9D c.27C>T 1 27587572 RCCC C T Synonymous p.I217I c.651C>T 1 27618877 CM C T Synonymous p.I552I c.1656C>T 1 27631507 CM C T Synonymous p.S332S c.996C>T 1 27623588 BLCA C T Synonymous p.S580S c.1740C>T 1 27631591 CM G A Missense p.D622N c.1864G>A 1 27632707 HNSC G A Missense p.D662N c.1984G>A 1 27632827 UCEC G A Missense p.D663N c.1987G>A 1 27632830 OV G A Missense p.E541K c.1621G>A 1 27630267 SCLC G A Missense p.G38S c.112G>A 1 27589706 HC G A Missense p.R18Q c.53G>A 1 27589647 ALL G A Missense p.R36Q c.107G>A 1 27589701 UCEC G A Missense p.R437H c.1310G>A 1 27627797 STAD G A Missense p.S205N c.614G>A 1 27618840 STAD G A Synonymous p.L474L c.1422G>A 1 27627909 HNSC G A Synonymous p.Q318Q c.954G>A 1 27623546 UCEC G A Synonymous p.T87T c.261G>A 1 27609910 COREAD G C Missense p.A395P c.1183G>C 1 27624556 LUAD G C Missense p.E611Q c.1831G>C 1 27631682 BLCA G C Missense p.G280R c.838G>C 1 27621085 RCCC G C Missense p.Q318H c.954G>C 1 27623546 BLCA G T Missense p.A141S c.421G>T 1 27614294 LUAD G T Missense p.A417S c.1249G>T 1 27627736 LUAD G T Missense p.G460W c.1378G>T 1 27627865 UCEC G T Nonsense p.E54* c.160G>T 1 27608757 LUSC G T Synonymous p.L184L c.552G>T 1 27618778 LUSC T A Missense p.I650N c.1949T>A 1 27632792 HNSC - T Frameshift p.S315Ffs*25 c.943dupT 1 27622886 ESCA T - IntronicDeletion . c.1-107delT 1 27587433 ESCA