Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 11 55032382 55032382 + Missense_Mutation SNP G G A TCGA-G2-AA3C-01A-21D-A391-08 TCGA-G2-AA3C-10A-01D-A394-08 g.chr11:55032382G>A c.51G>A c.(49-51)atG>atA p.M17I BLCA 11 55032749 55032749 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr11:55032749C>T c.418C>T c.(418-420)Cac>Tac p.H140Y BLCA 11 55036744 55036744 + Missense_Mutation SNP C C T TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 g.chr11:55036744C>T c.605C>T c.(604-606)cCc>cTc p.P202L BRCA 11 55032430 55032430 + Missense_Mutation SNP C C G TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr11:55032430C>G c.99C>G c.(97-99)atC>atG p.I33M BRCA 11 55032759 55032759 + Missense_Mutation SNP G G A TCGA-D8-A13Y-01A-11D-A10Y-09 TCGA-D8-A13Y-10A-01D-A110-09 g.chr11:55032759G>A c.428G>A c.(427-429)tGt>tAt p.C143Y COAD 11 55029786 55029786 + Splice_Site SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr11:55029786C>T c.43C>T c.(43-45)Cga>Tga p.R15* COAD 11 55032630 55032630 + Missense_Mutation SNP T T C TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr11:55032630T>C c.299T>C c.(298-300)cTa>cCa p.L100P COADREAD 11 55029786 55029786 + Splice_Site SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr11:55029786C>T c.43C>T c.(43-45)Cga>Tga p.R15* COADREAD 11 55032630 55032630 + Missense_Mutation SNP T T C TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr11:55032630T>C c.299T>C c.(298-300)cTa>cCa p.L100P GBMLGG 11 55032585 55032585 + Missense_Mutation SNP G G A TCGA-P5-A5EX-01A-12D-A289-08 TCGA-P5-A5EX-10A-01D-A289-08 g.chr11:55032585G>A c.254G>A c.(253-255)cGa>cAa p.R85Q GBMLGG 11 55035824 55035824 + Splice_Site SNP A A G TCGA-DU-6542-01A-11D-1893-08 TCGA-DU-6542-10A-01D-1893-08 g.chr11:55035824A>G c.e4-1 HNSC 11 55032387 55032387 + Missense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 g.chr11:55032387C>T c.56C>T c.(55-57)tCt>tTt p.S19F HNSC 11 55032498 55032498 + Missense_Mutation SNP A A G TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 g.chr11:55032498A>G c.167A>G c.(166-168)tAc>tGc p.Y56C HNSC 11 55032644 55032644 + Missense_Mutation SNP G G A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 g.chr11:55032644G>A c.313G>A c.(313-315)Gag>Aag p.E105K HNSC 11 55032682 55032682 + Missense_Mutation SNP G G T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 g.chr11:55032682G>T c.351G>T c.(349-351)aaG>aaT p.K117N HNSC 11 55032763 55032763 + Silent SNP C C A TCGA-CV-A45Z-01A-21D-A25D-08 TCGA-CV-A45Z-10A-01D-A25E-08 g.chr11:55032763C>A c.432C>A c.(430-432)ccC>ccA p.P144P HNSC 11 55033157 55033157 + Missense_Mutation SNP A A G TCGA-QK-AA3J-01A-11D-A391-08 TCGA-QK-AA3J-10A-01D-A394-08 g.chr11:55033157A>G c.541A>G c.(541-543)Atc>Gtc p.I181V HNSC 11 55035843 55035843 + Missense_Mutation SNP A A T TCGA-CV-7245-01A-11D-2012-08 TCGA-CV-7245-10A-01D-2013-08 g.chr11:55035843A>T c.573A>T c.(571-573)ttA>ttT p.L191F HNSC 11 55036718 55036718 + Splice_Site SNP G G A TCGA-CV-A6JM-01A-11D-A31L-08 TCGA-CV-A6JM-10A-01D-A31J-08 g.chr11:55036718G>A c.579G>A c.(577-579)agG>agA p.R193R HNSC 11 55036772 55036772 + Silent SNP A A C TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 g.chr11:55036772A>C c.633A>C c.(631-633)gcA>gcC p.A211A HNSC 11 55036774 55036774 + Missense_Mutation SNP G G T TCGA-BA-A6DA-01A-31D-A31L-08 TCGA-BA-A6DA-10A-01D-A31J-08 g.chr11:55036774G>T c.635G>T c.(634-636)gGg>gTg p.G212V HNSC 11 55036775 55036775 + Silent SNP G G T TCGA-BA-A6DA-01A-31D-A31L-08 TCGA-BA-A6DA-10A-01D-A31J-08 g.chr11:55036775G>T c.636G>T c.(634-636)ggG>ggT p.G212G HNSC 11 55036813 55036813 + Nonstop_Mutation SNP G G T TCGA-MT-A67A-01A-11D-A30E-08 TCGA-MT-A67A-10A-01D-A30H-08 g.chr11:55036813G>T c.674G>T c.(673-675)tGa>tTa p.*225L KICH 11 55032663 55032663 + Missense_Mutation SNP T T C TCGA-KN-8419-01A-11D-2310-10 TCGA-KN-8419-11A-01D-2310-10 g.chr11:55032663T>C c.332T>C c.(331-333)aTt>aCt p.I111T KIPAN 11 55032522 55032522 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr11:55032522T>C c.191T>C c.(190-192)aTt>aCt p.I64T KIPAN 11 55032663 55032663 + Missense_Mutation SNP T T C TCGA-KN-8419-01A-11D-2310-10 TCGA-KN-8419-11A-01D-2310-10 g.chr11:55032663T>C c.332T>C c.(331-333)aTt>aCt p.I111T KIPAN 11 55032729 55032729 + Missense_Mutation SNP G G T TCGA-B9-4116-01A-01D-1252-08 TCGA-B9-4116-10A-01D-1252-08 g.chr11:55032729G>T c.398G>T c.(397-399)aGc>aTc p.S133I KIRC 11 55032522 55032522 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr11:55032522T>C c.191T>C c.(190-192)aTt>aCt p.I64T KIRP 11 55032729 55032729 + Missense_Mutation SNP G G T TCGA-B9-4116-01A-01D-1252-08 TCGA-B9-4116-10A-01D-1252-08 g.chr11:55032729G>T c.398G>T c.(397-399)aGc>aTc p.S133I LAML 11 55033149 55033149 + Missense_Mutation SNP C C A TCGA-AB-2803-03B-01W-0728-08 TCGA-AB-2803-11B-01W-0728-08 g.chr11:55033149C>A c.533C>A c.(532-534)aCc>aAc p.T178N LGG 11 55032585 55032585 + Missense_Mutation SNP G G A TCGA-P5-A5EX-01A-12D-A289-08 TCGA-P5-A5EX-10A-01D-A289-08 g.chr11:55032585G>A c.254G>A c.(253-255)cGa>cAa p.R85Q LGG 11 55035824 55035824 + Splice_Site SNP A A G TCGA-DU-6542-01A-11D-1893-08 TCGA-DU-6542-10A-01D-1893-08 g.chr11:55035824A>G c.e4-1 LUAD 11 55032389 55032389 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 g.chr11:55032389G>A c.58G>A c.(58-60)Gga>Aga p.G20R LUAD 11 55032418 55032418 + Silent SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr11:55032418C>G c.87C>G c.(85-87)ctC>ctG p.L29L LUAD 11 55032434 55032434 + Missense_Mutation SNP A A C TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 g.chr11:55032434A>C c.103A>C c.(103-105)Atg>Ctg p.M35L LUAD 11 55032454 55032454 + Frame_Shift_Del DEL G G - TCGA-99-8032-01A-11D-2238-08 TCGA-99-8032-10A-01D-2238-08 g.chr11:55032454delG c.123delG c.(121-123)ccgfs p.P41fs LUAD 11 55032460 55032460 + Silent SNP C C G TCGA-78-7220-01A-11D-2036-08 TCGA-78-7220-10A-01D-2036-08 g.chr11:55032460C>G c.129C>G c.(127-129)acC>acG p.T43T LUAD 11 55032470 55032470 + Missense_Mutation SNP G G T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 g.chr11:55032470G>T c.139G>T c.(139-141)Ggg>Tgg p.G47W LUAD 11 55032474 55032474 + Missense_Mutation SNP A A T TCGA-55-8089-01A-11D-2238-08 TCGA-55-8089-10A-01D-2238-08 g.chr11:55032474A>T c.143A>T c.(142-144)cAc>cTc p.H48L LUAD 11 55032507 55032507 + Frame_Shift_Del DEL G G - TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 g.chr11:55032507delG c.176delG c.(175-177)tggfs p.W59fs LUAD 11 55032584 55032584 + Nonsense_Mutation SNP C C T TCGA-69-7765-01A-11D-2167-08 TCGA-69-7765-10A-01D-2167-08 g.chr11:55032584C>T c.253C>T c.(253-255)Cga>Tga p.R85* LUAD 11 55032609 55032609 + Missense_Mutation SNP C C A TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr11:55032609C>A c.278C>A c.(277-279)gCc>gAc p.A93D LUAD 11 55032683 55032683 + Missense_Mutation SNP A A G TCGA-95-7039-01A-11D-1945-08 TCGA-95-7039-10A-01D-1946-08 g.chr11:55032683A>G c.352A>G c.(352-354)Atg>Gtg p.M118V LUAD 11 55032685 55032685 + Missense_Mutation SNP G G A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 g.chr11:55032685G>A c.354G>A c.(352-354)atG>atA p.M118I LUAD 11 55032690 55032690 + Missense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 g.chr11:55032690G>T c.359G>T c.(358-360)tGt>tTt p.C120F LUAD 11 55032720 55032720 + Missense_Mutation SNP T T A TCGA-17-Z016-01A-01W-0746-08 TCGA-17-Z016-11A-01W-0746-08 g.chr11:55032720T>A c.389T>A c.(388-390)cTg>cAg p.L130Q LUAD 11 55032731 55032731 + Missense_Mutation SNP T T C TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 g.chr11:55032731T>C c.400T>C c.(400-402)Tct>Cct p.S134P LUAD 11 55032762 55032762 + Missense_Mutation SNP C C A TCGA-95-7039-01A-11D-1945-08 TCGA-95-7039-10A-01D-1946-08 g.chr11:55032762C>A c.431C>A c.(430-432)cCc>cAc p.P144H LUAD 11 55032777 55032777 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 g.chr11:55032777C>A c.446C>A c.(445-447)gCt>gAt p.A149D LUAD 11 55033082 55033082 + Missense_Mutation SNP C C A TCGA-55-8204-01A-11D-2238-08 TCGA-55-8204-10A-01D-2238-08 g.chr11:55033082C>A c.466C>A c.(466-468)Ctt>Att p.L156I LUAD 11 55033101 55033101 + Missense_Mutation SNP C C A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 g.chr11:55033101C>A c.485C>A c.(484-486)tCt>tAt p.S162Y LUAD 11 55033135 55033135 + Missense_Mutation SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 g.chr11:55033135C>A c.519C>A c.(517-519)aaC>aaA p.N173K LUAD 11 55033171 55033171 + Splice_Site SNP G G C TCGA-50-6594-01A-11D-1753-08 TCGA-50-6594-11A-01D-1753-08 g.chr11:55033171G>C c.555G>C c.(553-555)aaG>aaC p.K185N LUAD 11 55035827 55035827 + Splice_Site SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 g.chr11:55035827C>A c.557C>A c.(556-558)gCt>gAt p.A186D LUAD 11 55036730 55036730 + Silent SNP G G T TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr11:55036730G>T c.591G>T c.(589-591)gtG>gtT p.V197V LUAD 11 55036733 55036733 + Silent SNP G G T TCGA-95-A4VN-01A-11D-A25L-08 TCGA-95-A4VN-10A-01D-A25L-08 g.chr11:55036733G>T c.594G>T c.(592-594)ctG>ctT p.L198L LUAD 11 55036743 55036743 + Missense_Mutation SNP C C A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 g.chr11:55036743C>A c.604C>A c.(604-606)Ccc>Acc p.P202T LUAD 11 55036771 55036771 + Missense_Mutation SNP C C G TCGA-55-8203-01A-11D-2238-08 TCGA-55-8203-10A-01D-2238-08 g.chr11:55036771C>G c.632C>G c.(631-633)gCa>gGa p.A211G LUAD 11 55036774 55036774 + Missense_Mutation SNP G G A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 g.chr11:55036774G>A c.635G>A c.(634-636)gGg>gAg p.G212E LUAD 11 55036790 55036790 + Silent SNP G G C TCGA-55-8511-01A-11D-2393-08 TCGA-55-8511-10A-01D-2393-08 g.chr11:55036790G>C c.651G>C c.(649-651)ctG>ctC p.L217L LUSC 11 55032389 55032389 + Missense_Mutation SNP G G C TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 g.chr11:55032389G>C c.58G>C c.(58-60)Gga>Cga p.G20R LUSC 11 55032408 55032408 + Missense_Mutation SNP A A T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 g.chr11:55032408A>T c.77A>T c.(76-78)cAg>cTg p.Q26L LUSC 11 55032464 55032464 + Missense_Mutation SNP G G T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 g.chr11:55032464G>T c.133G>T c.(133-135)Gac>Tac p.D45Y LUSC 11 55032605 55032605 + Missense_Mutation SNP C C G TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 g.chr11:55032605C>G c.274C>G c.(274-276)Ctt>Gtt p.L92V LUSC 11 55032733 55032733 + Silent SNP T T A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 g.chr11:55032733T>A c.402T>A c.(400-402)tcT>tcA p.S134S LUSC 11 55032762 55032762 + Missense_Mutation SNP C C A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 g.chr11:55032762C>A c.431C>A c.(430-432)cCc>cAc p.P144H PRAD 11 55032718 55032718 + Missense_Mutation SNP G G T TCGA-YL-A9WK-01A-11D-A377-08 TCGA-YL-A9WK-10A-01D-A37A-08 g.chr11:55032718G>T c.387G>T c.(385-387)ttG>ttT p.L129F PRAD 11 55033097 55033097 + Nonsense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr11:55033097C>T c.481C>T c.(481-483)Cag>Tag p.Q161* PRAD 11 55036727 55036727 + Silent SNP C C T TCGA-KK-A59V-01A-11D-A29Q-08 TCGA-KK-A59V-11A-11D-A29Q-08 g.chr11:55036727C>T c.588C>T c.(586-588)tcC>tcT p.S196S SARC 11 55036763 55036763 + Silent SNP G G A TCGA-3B-A9HS-01A-11D-A38Z-09 TCGA-3B-A9HS-10A-01D-A38Z-09 g.chr11:55036763G>A c.624G>A c.(622-624)gcG>gcA p.A208A SKCM 11 55032382 55032382 + Missense_Mutation SNP G G A TCGA-D3-A3ML-06A-11D-A21A-08 TCGA-D3-A3ML-10A-01D-A21A-08 g.chr11:55032382G>A c.51G>A c.(49-51)atG>atA p.M17I SKCM 11 55032382 55032382 + Missense_Mutation SNP G G A TCGA-EE-A20F-06A-21D-A196-08 TCGA-EE-A20F-10A-01D-A198-08 g.chr11:55032382G>A c.51G>A c.(49-51)atG>atA p.M17I SKCM 11 55032390 55032390 + Missense_Mutation SNP G G A TCGA-D3-A3C8-06A-12D-A19A-08 TCGA-D3-A3C8-10A-01D-A19A-08 g.chr11:55032390G>A c.59G>A c.(58-60)gGa>gAa p.G20E SKCM 11 55032413 55032413 + Missense_Mutation SNP G G A TCGA-EE-A183-06A-11D-A196-08 TCGA-EE-A183-10A-01D-A198-08 g.chr11:55032413G>A c.82G>A c.(82-84)Gaa>Aaa p.E28K SKCM 11 55032413 55032413 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr11:55032413G>A c.82G>A c.(82-84)Gaa>Aaa p.E28K SKCM 11 55032550 55032550 + Silent SNP G G A TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr11:55032550G>A c.219G>A c.(217-219)aaG>aaA p.K73K SKCM 11 55032589 55032589 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr11:55032589G>A c.258G>A c.(256-258)ttG>ttA p.L86L SKCM 11 55032625 55032625 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 g.chr11:55032625C>T c.294C>T c.(292-294)ctC>ctT p.L98L SKCM 11 55032679 55032679 + Silent SNP G G A TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr11:55032679G>A c.348G>A c.(346-348)aaG>aaA p.K116K SKCM 11 55032689 55032689 + Missense_Mutation SNP T T C TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 g.chr11:55032689T>C c.358T>C c.(358-360)Tgt>Cgt p.C120R SKCM 11 55033125 55033125 + Missense_Mutation SNP A A T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 g.chr11:55033125A>T c.509A>T c.(508-510)aAt>aTt p.N170I SKCM 11 55036748 55036748 + Silent SNP G G A TCGA-ER-A42L-06A-11D-A24R-08 TCGA-ER-A42L-10A-01D-A24R-08 g.chr11:55036748G>A c.609G>A c.(607-609)caG>caA p.Q203Q SKCM 11 55036761 55036761 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 g.chr11:55036761G>A c.622G>A c.(622-624)Gcg>Acg p.A208T

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 11 55032734 55032734 single base substitution C G missense_variant Q135E 403C>G BLCA-CN 11 55033149 55033149 single base substitution C T missense_variant T178I 533C>T BLCA-CN 11 55038361 55038361 single base substitution T C 3_prime_UTR_variant BLCA-US 11 55032749 55032749 single base substitution C T missense_variant H140Y 418C>T BLCA-US 11 55036744 55036744 single base substitution C T missense_variant P202L 605C>T BRCA-EU 11 55028155 55028155 single base substitution G A upstream_gene_variant BRCA-EU 11 55028652 55028652 single base substitution G A upstream_gene_variant BRCA-EU 11 55029801 55029801 single base substitution A G intron_variant BRCA-EU 11 55030663 55030663 insertion of <=200bp - AT intron_variant BRCA-EU 11 55030992 55030992 single base substitution G T intron_variant BRCA-EU 11 55031526 55031526 single base substitution G T intron_variant BRCA-EU 11 55032413 55032413 single base substitution G A missense_variant E28K 82G>A BRCA-EU 11 55032940 55032940 single base substitution G A intron_variant BRCA-EU 11 55033488 55033488 single base substitution G T intron_variant BRCA-EU 11 55033496 55033496 single base substitution G C intron_variant BRCA-EU 11 55033787 55033787 single base substitution G C intron_variant BRCA-EU 11 55034597 55034597 single base substitution C G intron_variant BRCA-EU 11 55034618 55034618 single base substitution G C intron_variant BRCA-EU 11 55034722 55034722 single base substitution C G intron_variant BRCA-EU 11 55035010 55035010 single base substitution T G intron_variant BRCA-EU 11 55035255 55035255 single base substitution G T intron_variant BRCA-EU 11 55035527 55035527 single base substitution G A intron_variant BRCA-EU 11 55035544 55035544 single base substitution C T intron_variant BRCA-EU 11 55035932 55035932 single base substitution C T intron_variant BRCA-EU 11 55036164 55036164 single base substitution G A intron_variant BRCA-EU 11 55036692 55036692 single base substitution T A intron_variant BRCA-EU 11 55036869 55036869 single base substitution G A intron_variant BRCA-EU 11 55037019 55037019 single base substitution T A intron_variant BRCA-EU 11 55037060 55037060 single base substitution G A intron_variant BRCA-EU 11 55037355 55037355 single base substitution G A intron_variant BRCA-EU 11 55037420 55037420 single base substitution G A intron_variant BRCA-EU 11 55037709 55037709 single base substitution A G intron_variant BRCA-EU 11 55038416 55038416 single base substitution G A 3_prime_UTR_variant BRCA-EU 11 55038777 55038777 single base substitution T G downstream_gene_variant BRCA-EU 11 55038950 55038950 single base substitution C T downstream_gene_variant BRCA-EU 11 55041269 55041269 single base substitution G C downstream_gene_variant BRCA-EU 11 55041842 55041842 single base substitution G A downstream_gene_variant BRCA-EU 11 55042463 55042463 single base substitution C T downstream_gene_variant BRCA-EU 11 55042468 55042468 single base substitution G A downstream_gene_variant BRCA-EU 11 55042789 55042789 single base substitution G C downstream_gene_variant BRCA-EU 11 55043205 55043205 single base substitution G A downstream_gene_variant BRCA-EU 11 55043359 55043359 single base substitution C T downstream_gene_variant BRCA-FR 11 55029801 55029801 single base substitution A G intron_variant BRCA-FR 11 55035880 55035880 single base substitution C T intron_variant BRCA-FR 11 55037420 55037420 single base substitution G A intron_variant BRCA-FR 11 55038950 55038950 single base substitution C T downstream_gene_variant BRCA-UK 11 55042468 55042468 single base substitution G A downstream_gene_variant BRCA-US 11 55032430 55032430 single base substitution C G missense_variant I33M 99C>G BRCA-US 11 55032759 55032759 single base substitution G A missense_variant C143Y 428G>A BRCA-US 11 55035844 55035844 single base substitution T C missense_variant Y192H 574T>C BTCA-JP 11 55035844 55035844 single base substitution T C missense_variant Y192H 574T>C BTCA-JP 11 55035854 55035854 single base substitution T A splice_region_variant BTCA-JP 11 55035855 55035855 single base substitution A G splice_region_variant BTCA-JP 11 55035952 55035953 deletion of <=200bp TT - intron_variant CLLE-ES 11 55025049 55025049 single base substitution G A upstream_gene_variant CLLE-ES 11 55029433 55029433 single base substitution G T upstream_gene_variant CLLE-ES 11 55036645 55036645 single base substitution C A intron_variant CLLE-ES 11 55037427 55037427 single base substitution A G intron_variant CLLE-ES 11 55038614 55038614 single base substitution A G downstream_gene_variant COAD-US 11 55029786 55029786 single base substitution C T stop_gained R15* 43C>T COAD-US 11 55029787 55029787 single base substitution G A missense_variant R15Q 44G>A COAD-US 11 55032399 55032399 single base substitution A C missense_variant Q23P 68A>C COAD-US 11 55032430 55032430 single base substitution C A synonymous_variant I33I 99C>A COAD-US 11 55032630 55032630 single base substitution T C missense_variant L100P 299T>C COAD-US 11 55033084 55033084 single base substitution T G synonymous_variant L156L 468T>G COCA-CN 11 55025204 55025204 single base substitution A C upstream_gene_variant COCA-CN 11 55025672 55025672 single base substitution T C upstream_gene_variant COCA-CN 11 55025683 55025683 single base substitution T C upstream_gene_variant COCA-CN 11 55025695 55025695 single base substitution T G upstream_gene_variant COCA-CN 11 55026447 55026447 single base substitution T G upstream_gene_variant COCA-CN 11 55027111 55027111 single base substitution G C upstream_gene_variant COCA-CN 11 55027491 55027491 single base substitution T C upstream_gene_variant COCA-CN 11 55027562 55027562 single base substitution C A upstream_gene_variant COCA-CN 11 55031871 55031871 single base substitution A G intron_variant COCA-CN 11 55032005 55032005 single base substitution T C intron_variant COCA-CN 11 55032027 55032027 single base substitution C T intron_variant COCA-CN 11 55032029 55032029 single base substitution T C intron_variant COCA-CN 11 55032177 55032177 single base substitution G A intron_variant COCA-CN 11 55034625 55034625 single base substitution G T intron_variant COCA-CN 11 55035718 55035718 single base substitution A T intron_variant COCA-CN 11 55035844 55035844 single base substitution T C missense_variant Y192H 574T>C COCA-CN 11 55035854 55035854 single base substitution T A splice_region_variant COCA-CN 11 55035855 55035855 single base substitution A G splice_region_variant ESAD-UK 11 55024666 55024666 single base substitution A G upstream_gene_variant ESAD-UK 11 55024699 55024699 single base substitution A C upstream_gene_variant ESAD-UK 11 55024723 55024723 single base substitution A C upstream_gene_variant ESAD-UK 11 55024825 55024825 single base substitution G T upstream_gene_variant ESAD-UK 11 55024870 55024870 single base substitution A C upstream_gene_variant ESAD-UK 11 55024870 55024870 single base substitution A G upstream_gene_variant ESAD-UK 11 55025176 55025176 single base substitution A G upstream_gene_variant ESAD-UK 11 55025432 55025432 single base substitution T C upstream_gene_variant ESAD-UK 11 55025832 55025832 insertion of <=200bp - T upstream_gene_variant ESAD-UK 11 55025880 55025880 single base substitution A G upstream_gene_variant ESAD-UK 11 55026228 55026228 single base substitution A G upstream_gene_variant ESAD-UK 11 55026239 55026239 single base substitution T C upstream_gene_variant ESAD-UK 11 55026497 55026497 single base substitution A C upstream_gene_variant ESAD-UK 11 55026723 55026723 single base substitution A C upstream_gene_variant ESAD-UK 11 55026820 55026820 single base substitution T A upstream_gene_variant ESAD-UK 11 55027711 55027711 single base substitution T A upstream_gene_variant ESAD-UK 11 55027857 55027857 single base substitution A G upstream_gene_variant ESAD-UK 11 55027920 55027920 single base substitution A G upstream_gene_variant ESAD-UK 11 55027950 55027950 single base substitution G A upstream_gene_variant ESAD-UK 11 55028327 55028327 single base substitution G A upstream_gene_variant ESAD-UK 11 55028472 55028472 single base substitution C A upstream_gene_variant ESAD-UK 11 55028479 55028479 single base substitution A G upstream_gene_variant ESAD-UK 11 55029126 55029126 single base substitution A G upstream_gene_variant ESAD-UK 11 55029700 55029700 single base substitution T G 5_prime_UTR_variant ESAD-UK 11 55029909 55029909 single base substitution T G intron_variant ESAD-UK 11 55030282 55030282 single base substitution G A intron_variant ESAD-UK 11 55030884 55030884 single base substitution T A intron_variant ESAD-UK 11 55031320 55031320 single base substitution T G intron_variant ESAD-UK 11 55031572 55031572 single base substitution A C intron_variant ESAD-UK 11 55032711 55032711 single base substitution T C missense_variant L127P 380T>C ESAD-UK 11 55032902 55032902 single base substitution T C intron_variant ESAD-UK 11 55033014 55033014 single base substitution G A intron_variant ESAD-UK 11 55033066 55033066 single base substitution T G intron_variant ESAD-UK 11 55033201 55033201 single base substitution G T intron_variant ESAD-UK 11 55033206 55033206 single base substitution T C intron_variant ESAD-UK 11 55033440 55033440 single base substitution A C intron_variant ESAD-UK 11 55033475 55033475 single base substitution T G intron_variant ESAD-UK 11 55033476 55033476 single base substitution T C intron_variant ESAD-UK 11 55034053 55034053 deletion of <=200bp A - intron_variant ESAD-UK 11 55035010 55035010 single base substitution T C intron_variant ESAD-UK 11 55035010 55035010 single base substitution T G intron_variant ESAD-UK 11 55035163 55035163 single base substitution A C intron_variant ESAD-UK 11 55035328 55035328 single base substitution T G intron_variant ESAD-UK 11 55035463 55035463 single base substitution C A intron_variant ESAD-UK 11 55035637 55035637 single base substitution C T intron_variant ESAD-UK 11 55035673 55035673 insertion of <=200bp - T intron_variant ESAD-UK 11 55035768 55035768 single base substitution T G intron_variant ESAD-UK 11 55035827 55035827 single base substitution C A missense_variant A186D 557C>A ESAD-UK 11 55035921 55035921 single base substitution C A intron_variant ESAD-UK 11 55035932 55035932 single base substitution C T intron_variant ESAD-UK 11 55036276 55036276 single base substitution A C intron_variant ESAD-UK 11 55036415 55036415 single base substitution C A intron_variant ESAD-UK 11 55036479 55036479 single base substitution T G intron_variant ESAD-UK 11 55036507 55036507 single base substitution A C intron_variant ESAD-UK 11 55036926 55036926 single base substitution A C intron_variant ESAD-UK 11 55036947 55036947 single base substitution A G intron_variant ESAD-UK 11 55036979 55036979 single base substitution T G intron_variant ESAD-UK 11 55036983 55036983 single base substitution A G intron_variant ESAD-UK 11 55037798 55037798 single base substitution T G intron_variant ESAD-UK 11 55037952 55037952 single base substitution T C 3_prime_UTR_variant ESAD-UK 11 55038032 55038032 single base substitution A C 3_prime_UTR_variant ESAD-UK 11 55038777 55038777 single base substitution T G downstream_gene_variant ESAD-UK 11 55038954 55038954 single base substitution T C downstream_gene_variant ESAD-UK 11 55039017 55039017 single base substitution A C downstream_gene_variant ESAD-UK 11 55039027 55039027 single base substitution T A downstream_gene_variant ESAD-UK 11 55039174 55039174 single base substitution T A downstream_gene_variant ESAD-UK 11 55039670 55039670 single base substitution A T downstream_gene_variant ESAD-UK 11 55039707 55039707 single base substitution A G downstream_gene_variant ESAD-UK 11 55040495 55040495 single base substitution A C downstream_gene_variant ESAD-UK 11 55041143 55041143 single base substitution G C downstream_gene_variant ESAD-UK 11 55041284 55041284 single base substitution G C downstream_gene_variant ESAD-UK 11 55041410 55041410 single base substitution C T downstream_gene_variant ESAD-UK 11 55042839 55042839 single base substitution G A downstream_gene_variant ESAD-UK 11 55043065 55043065 single base substitution G A downstream_gene_variant ESCA-CN 11 55032431 55032431 single base substitution T G missense_variant C34G 100T>G ESCA-CN 11 55035314 55035314 single base substitution A C intron_variant ESCA-CN 11 55035951 55035951 insertion of <=200bp - T intron_variant ESCA-CN 11 55036610 55036610 single base substitution C A intron_variant ESCA-CN 11 55038032 55038032 single base substitution A T 3_prime_UTR_variant LAML-KR 11 55033292 55033292 single base substitution G A intron_variant LAML-KR 11 55035985 55035985 single base substitution G A intron_variant LGG-US 11 55035824 55035824 single base substitution A G splice_acceptor_variant LICA-FR 11 55029716 55029716 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant LICA-FR 11 55037387 55037387 single base substitution T A intron_variant LICA-FR 11 55037388 55037388 single base substitution C A intron_variant LICA-FR 11 55039460 55039460 single base substitution T C downstream_gene_variant LICA-FR 11 55039509 55039515 deletion of <=200bp ATCTGAA - downstream_gene_variant LICA-FR 11 55043119 55043119 single base substitution C A downstream_gene_variant LINC-JP 11 55031610 55031610 insertion of <=200bp - A intron_variant LINC-JP 11 55032560 55032560 single base substitution C A missense_variant Q77K 229C>A LINC-JP 11 55032580 55032580 single base substitution C A missense_variant N83K 249C>A LINC-JP 11 55035810 55035810 insertion of <=200bp - T intron_variant LIRI-JP 11 55028485 55028485 single base substitution C G upstream_gene_variant LIRI-JP 11 55028691 55028691 single base substitution C T upstream_gene_variant LIRI-JP 11 55028994 55028994 single base substitution C A upstream_gene_variant LIRI-JP 11 55029475 55029475 single base substitution G A upstream_gene_variant LIRI-JP 11 55031928 55031928 single base substitution T C intron_variant LIRI-JP 11 55033495 55033495 single base substitution A T intron_variant LIRI-JP 11 55035478 55035478 single base substitution T A intron_variant LIRI-JP 11 55035479 55035479 single base substitution C A intron_variant LIRI-JP 11 55037929 55037929 single base substitution T C 3_prime_UTR_variant LIRI-JP 11 55038309 55038309 single base substitution C A 3_prime_UTR_variant LIRI-JP 11 55038516 55038516 single base substitution A G 3_prime_UTR_variant LIRI-JP 11 55038749 55038749 single base substitution G T downstream_gene_variant LIRI-JP 11 55038869 55038869 single base substitution A G downstream_gene_variant LIRI-JP 11 55039483 55039483 single base substitution T C downstream_gene_variant LIRI-JP 11 55039993 55039993 single base substitution T A downstream_gene_variant LIRI-JP 11 55041094 55041094 single base substitution A G downstream_gene_variant LUSC-KR 11 55024773 55024773 single base substitution C A upstream_gene_variant LUSC-KR 11 55024774 55024774 single base substitution C A upstream_gene_variant LUSC-KR 11 55025865 55025865 single base substitution G T upstream_gene_variant LUSC-KR 11 55026465 55026465 single base substitution C T upstream_gene_variant LUSC-KR 11 55026965 55026965 single base substitution G A upstream_gene_variant LUSC-KR 11 55027242 55027242 single base substitution G A upstream_gene_variant LUSC-KR 11 55027426 55027426 single base substitution T C upstream_gene_variant LUSC-KR 11 55027505 55027505 single base substitution C A upstream_gene_variant LUSC-KR 11 55027506 55027506 single base substitution C T upstream_gene_variant LUSC-KR 11 55027668 55027668 single base substitution G A upstream_gene_variant LUSC-KR 11 55027736 55027736 single base substitution A T upstream_gene_variant LUSC-KR 11 55027782 55027782 single base substitution C A upstream_gene_variant LUSC-KR 11 55028737 55028737 single base substitution C T upstream_gene_variant LUSC-KR 11 55029061 55029061 single base substitution G T upstream_gene_variant LUSC-KR 11 55029665 55029665 single base substitution G T 5_prime_UTR_variant LUSC-KR 11 55029945 55029945 single base substitution G C intron_variant LUSC-KR 11 55029956 55029956 single base substitution G A intron_variant LUSC-KR 11 55029995 55029995 single base substitution A G intron_variant LUSC-KR 11 55030763 55030763 single base substitution C A intron_variant LUSC-KR 11 55031435 55031435 single base substitution A G intron_variant LUSC-KR 11 55031701 55031701 single base substitution C A intron_variant LUSC-KR 11 55031702 55031702 single base substitution C A intron_variant LUSC-KR 11 55031920 55031920 single base substitution C A intron_variant LUSC-KR 11 55032492 55032492 single base substitution G T missense_variant C54F 161G>T LUSC-KR 11 55032772 55032772 single base substitution G C missense_variant W147C 441G>C LUSC-KR 11 55032792 55032792 single base substitution T A splice_donor_variant LUSC-KR 11 55034621 55034621 single base substitution T C intron_variant LUSC-KR 11 55035244 55035244 single base substitution G A intron_variant LUSC-KR 11 55035985 55035985 single base substitution G A intron_variant LUSC-KR 11 55037366 55037366 single base substitution T G intron_variant LUSC-KR 11 55037393 55037393 single base substitution C A intron_variant LUSC-KR 11 55037606 55037606 single base substitution C A intron_variant LUSC-KR 11 55037784 55037784 single base substitution A T intron_variant LUSC-KR 11 55038124 55038124 single base substitution C T 3_prime_UTR_variant LUSC-KR 11 55039840 55039840 single base substitution C T downstream_gene_variant LUSC-KR 11 55041441 55041441 single base substitution T C downstream_gene_variant LUSC-KR 11 55041633 55041633 single base substitution C G downstream_gene_variant LUSC-KR 11 55042597 55042597 single base substitution C A downstream_gene_variant LUSC-KR 11 55042977 55042977 single base substitution C G downstream_gene_variant LUSC-KR 11 55043010 55043010 single base substitution G T downstream_gene_variant LUSC-US 11 55032389 55032389 single base substitution G C missense_variant G20R 58G>C LUSC-US 11 55032408 55032408 single base substitution A T missense_variant Q26L 77A>T LUSC-US 11 55032464 55032464 single base substitution G T missense_variant D45Y 133G>T LUSC-US 11 55032605 55032605 single base substitution C G missense_variant L92V 274C>G LUSC-US 11 55032733 55032733 single base substitution T A synonymous_variant S134S 402T>A LUSC-US 11 55032762 55032762 single base substitution C A missense_variant P144H 431C>A MALY-DE 11 55030308 55030308 single base substitution G T intron_variant MALY-DE 11 55034235 55034236 deletion of <=200bp TG - intron_variant MALY-DE 11 55034707 55034707 single base substitution T A intron_variant MALY-DE 11 55034984 55034984 single base substitution G T intron_variant MALY-DE 11 55039018 55039018 deletion of <=200bp T - downstream_gene_variant MALY-DE 11 55040215 55040215 single base substitution C T downstream_gene_variant MALY-DE 11 55041549 55041549 single base substitution T G downstream_gene_variant MALY-DE 11 55043351 55043351 single base substitution G A downstream_gene_variant MELA-AU 11 55024672 55024672 single base substitution C T upstream_gene_variant MELA-AU 11 55024677 55024677 single base substitution A T upstream_gene_variant MELA-AU 11 55024773 55024773 single base substitution C T upstream_gene_variant MELA-AU 11 55024825 55024825 single base substitution G A upstream_gene_variant MELA-AU 11 55024833 55024833 single base substitution C T upstream_gene_variant MELA-AU 11 55024853 55024853 single base substitution G A upstream_gene_variant MELA-AU 11 55024862 55024862 single base substitution C T upstream_gene_variant MELA-AU 11 55024938 55024938 single base substitution C T upstream_gene_variant MELA-AU 11 55024947 55024947 single base substitution C T upstream_gene_variant MELA-AU 11 55024957 55024957 single base substitution C T upstream_gene_variant MELA-AU 11 55025054 55025054 single base substitution C T upstream_gene_variant MELA-AU 11 55025063 55025063 single base substitution G A upstream_gene_variant MELA-AU 11 55025074 55025074 single base substitution G A upstream_gene_variant MELA-AU 11 55025107 55025107 single base substitution T A upstream_gene_variant MELA-AU 11 55025109 55025109 single base substitution C T upstream_gene_variant MELA-AU 11 55025207 55025207 single base substitution C T upstream_gene_variant MELA-AU 11 55025280 55025280 single base substitution C T upstream_gene_variant MELA-AU 11 55025544 55025544 single base substitution C T upstream_gene_variant MELA-AU 11 55025576 55025576 single base substitution G A upstream_gene_variant MELA-AU 11 55025708 55025708 single base substitution G A upstream_gene_variant MELA-AU 11 55025722 55025722 single base substitution G T upstream_gene_variant MELA-AU 11 55025765 55025765 single base substitution C T upstream_gene_variant MELA-AU 11 55025782 55025782 single base substitution G A upstream_gene_variant MELA-AU 11 55026029 55026029 single base substitution G A upstream_gene_variant MELA-AU 11 55026082 55026082 single base substitution C T upstream_gene_variant MELA-AU 11 55026134 55026134 single base substitution C T upstream_gene_variant MELA-AU 11 55026227 55026227 single base substitution C T upstream_gene_variant MELA-AU 11 55026333 55026333 single base substitution G A upstream_gene_variant MELA-AU 11 55026349 55026349 single base substitution G A upstream_gene_variant MELA-AU 11 55026481 55026481 single base substitution C T upstream_gene_variant MELA-AU 11 55026511 55026511 single base substitution C T upstream_gene_variant MELA-AU 11 55026636 55026636 single base substitution G A upstream_gene_variant MELA-AU 11 55026822 55026822 single base substitution C T upstream_gene_variant MELA-AU 11 55026940 55026940 single base substitution G A upstream_gene_variant MELA-AU 11 55026986 55026986 single base substitution C T upstream_gene_variant MELA-AU 11 55027122 55027122 single base substitution G A upstream_gene_variant MELA-AU 11 55027147 55027147 single base substitution G A upstream_gene_variant MELA-AU 11 55027170 55027170 single base substitution G A upstream_gene_variant MELA-AU 11 55027241 55027241 single base substitution G A upstream_gene_variant MELA-AU 11 55027263 55027263 single base substitution C G upstream_gene_variant MELA-AU 11 55027327 55027327 single base substitution C T upstream_gene_variant MELA-AU 11 55027412 55027412 single base substitution G A upstream_gene_variant MELA-AU 11 55027455 55027455 single base substitution T A upstream_gene_variant MELA-AU 11 55027473 55027473 single base substitution C T upstream_gene_variant MELA-AU 11 55027533 55027533 single base substitution C T upstream_gene_variant MELA-AU 11 55027541 55027541 single base substitution G A upstream_gene_variant MELA-AU 11 55027598 55027598 single base substitution G A upstream_gene_variant MELA-AU 11 55027687 55027687 single base substitution C T upstream_gene_variant MELA-AU 11 55027719 55027719 single base substitution C T upstream_gene_variant MELA-AU 11 55027722 55027722 single base substitution C T upstream_gene_variant MELA-AU 11 55027742 55027742 single base substitution G A upstream_gene_variant MELA-AU 11 55027753 55027753 single base substitution C T upstream_gene_variant MELA-AU 11 55027796 55027796 single base substitution C T upstream_gene_variant MELA-AU 11 55027923 55027923 single base substitution A G upstream_gene_variant MELA-AU 11 55027968 55027968 single base substitution C T upstream_gene_variant MELA-AU 11 55028031 55028031 single base substitution A C upstream_gene_variant MELA-AU 11 55028146 55028146 single base substitution G A upstream_gene_variant MELA-AU 11 55028159 55028159 single base substitution G A upstream_gene_variant MELA-AU 11 55028228 55028228 single base substitution C T upstream_gene_variant MELA-AU 11 55028241 55028241 single base substitution C T upstream_gene_variant MELA-AU 11 55028266 55028266 single base substitution C T upstream_gene_variant MELA-AU 11 55028405 55028405 single base substitution C T upstream_gene_variant MELA-AU 11 55028447 55028447 single base substitution C T upstream_gene_variant MELA-AU 11 55028541 55028541 single base substitution C T upstream_gene_variant MELA-AU 11 55028663 55028663 single base substitution C A upstream_gene_variant MELA-AU 11 55028731 55028731 single base substitution C T upstream_gene_variant MELA-AU 11 55028790 55028790 single base substitution C T upstream_gene_variant MELA-AU 11 55028848 55028848 single base substitution G A upstream_gene_variant MELA-AU 11 55028882 55028882 single base substitution C T upstream_gene_variant MELA-AU 11 55028916 55028916 single base substitution G A upstream_gene_variant MELA-AU 11 55028998 55028998 single base substitution C T upstream_gene_variant MELA-AU 11 55029015 55029015 single base substitution C T upstream_gene_variant MELA-AU 11 55029022 55029022 single base substitution C T upstream_gene_variant MELA-AU 11 55029052 55029052 single base substitution C T upstream_gene_variant MELA-AU 11 55029109 55029109 single base substitution G A upstream_gene_variant MELA-AU 11 55029203 55029203 single base substitution G A upstream_gene_variant MELA-AU 11 55029264 55029264 single base substitution G A upstream_gene_variant MELA-AU 11 55029306 55029306 single base substitution C T upstream_gene_variant MELA-AU 11 55029312 55029312 single base substitution G A upstream_gene_variant MELA-AU 11 55029346 55029346 single base substitution T C upstream_gene_variant MELA-AU 11 55029351 55029351 single base substitution G A upstream_gene_variant MELA-AU 11 55029367 55029367 single base substitution G A upstream_gene_variant MELA-AU 11 55029476 55029476 single base substitution G A upstream_gene_variant MELA-AU 11 55029750 55029750 single base substitution C T stop_gained R3* 7C>T MELA-AU 11 55029778 55029778 single base substitution G A missense_variant R12K 35G>A MELA-AU 11 55029935 55029935 single base substitution G A intron_variant MELA-AU 11 55029994 55029994 single base substitution G A intron_variant MELA-AU 11 55030036 55030036 single base substitution G A intron_variant MELA-AU 11 55030128 55030128 single base substitution G A intron_variant MELA-AU 11 55030261 55030261 single base substitution G A intron_variant MELA-AU 11 55030368 55030368 single base substitution C T intron_variant MELA-AU 11 55030369 55030369 single base substitution C A intron_variant MELA-AU 11 55030421 55030421 single base substitution C T intron_variant MELA-AU 11 55030440 55030440 single base substitution C T intron_variant MELA-AU 11 55030470 55030470 single base substitution G A intron_variant MELA-AU 11 55030854 55030854 single base substitution C T intron_variant MELA-AU 11 55030932 55030932 single base substitution C T intron_variant MELA-AU 11 55030968 55030968 single base substitution G A intron_variant MELA-AU 11 55030982 55030982 single base substitution G A intron_variant MELA-AU 11 55031015 55031015 single base substitution A G intron_variant MELA-AU 11 55031020 55031020 single base substitution C T intron_variant MELA-AU 11 55031025 55031025 single base substitution G A intron_variant MELA-AU 11 55031064 55031064 single base substitution G A intron_variant MELA-AU 11 55031075 55031075 single base substitution T C intron_variant MELA-AU 11 55031116 55031116 single base substitution T G intron_variant MELA-AU 11 55031117 55031117 single base substitution G A intron_variant MELA-AU 11 55031231 55031231 single base substitution G A intron_variant MELA-AU 11 55031238 55031238 single base substitution C T intron_variant MELA-AU 11 55031298 55031298 single base substitution G A intron_variant MELA-AU 11 55031369 55031369 single base substitution G A intron_variant MELA-AU 11 55031377 55031377 single base substitution C T intron_variant MELA-AU 11 55031394 55031394 single base substitution C T intron_variant MELA-AU 11 55031395 55031395 single base substitution C T intron_variant MELA-AU 11 55031488 55031488 single base substitution C T intron_variant MELA-AU 11 55031490 55031490 single base substitution G A intron_variant MELA-AU 11 55031512 55031512 single base substitution C T intron_variant MELA-AU 11 55031517 55031517 single base substitution A G intron_variant MELA-AU 11 55031535 55031535 single base substitution C T intron_variant MELA-AU 11 55031577 55031577 single base substitution C T intron_variant MELA-AU 11 55031580 55031580 single base substitution C T intron_variant MELA-AU 11 55031628 55031628 single base substitution C T intron_variant MELA-AU 11 55031659 55031659 single base substitution C T intron_variant MELA-AU 11 55031715 55031715 single base substitution G A intron_variant MELA-AU 11 55031802 55031802 single base substitution C T intron_variant MELA-AU 11 55031980 55031980 single base substitution C T intron_variant MELA-AU 11 55032002 55032002 single base substitution C T intron_variant MELA-AU 11 55032047 55032047 single base substitution A G intron_variant MELA-AU 11 55032063 55032063 single base substitution C T intron_variant MELA-AU 11 55032069 55032069 single base substitution T C intron_variant MELA-AU 11 55032104 55032104 single base substitution C T intron_variant MELA-AU 11 55032117 55032117 single base substitution G A intron_variant MELA-AU 11 55032210 55032210 single base substitution G A intron_variant MELA-AU 11 55032262 55032262 single base substitution T A intron_variant MELA-AU 11 55032361 55032361 single base substitution C T intron_variant MELA-AU 11 55032370 55032370 single base substitution C T splice_region_variant MELA-AU 11 55032412 55032413 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant RE27RK MELA-AU 11 55032413 55032413 single base substitution G A missense_variant E28K 82G>A MELA-AU 11 55032430 55032430 single base substitution C T synonymous_variant I33I 99C>T MELA-AU 11 55032603 55032603 single base substitution C T missense_variant S91F 272C>T MELA-AU 11 55032679 55032679 single base substitution G A synonymous_variant K116K 348G>A MELA-AU 11 55032737 55032737 single base substitution G A missense_variant E136K 406G>A MELA-AU 11 55032839 55032839 single base substitution C T intron_variant MELA-AU 11 55032909 55032909 single base substitution C T intron_variant MELA-AU 11 55032951 55032951 single base substitution G A intron_variant MELA-AU 11 55032980 55032980 single base substitution C T intron_variant MELA-AU 11 55033006 55033006 single base substitution C T intron_variant MELA-AU 11 55033035 55033035 single base substitution T C intron_variant MELA-AU 11 55033145 55033145 single base substitution G A missense_variant E177K 529G>A MELA-AU 11 55033250 55033250 single base substitution C T intron_variant MELA-AU 11 55033337 55033337 single base substitution G A intron_variant MELA-AU 11 55033594 55033594 single base substitution G A intron_variant MELA-AU 11 55033623 55033623 single base substitution G A intron_variant MELA-AU 11 55033633 55033633 single base substitution G A intron_variant MELA-AU 11 55033653 55033653 single base substitution C T intron_variant MELA-AU 11 55033704 55033704 single base substitution A G intron_variant MELA-AU 11 55033713 55033713 single base substitution G A intron_variant MELA-AU 11 55033813 55033813 single base substitution G A intron_variant MELA-AU 11 55033880 55033880 single base substitution C T intron_variant MELA-AU 11 55034023 55034023 single base substitution T C intron_variant MELA-AU 11 55034206 55034206 single base substitution G A intron_variant MELA-AU 11 55034332 55034332 single base substitution G A intron_variant MELA-AU 11 55034368 55034368 single base substitution G A intron_variant MELA-AU 11 55034376 55034376 single base substitution G A intron_variant MELA-AU 11 55034382 55034382 single base substitution G A intron_variant MELA-AU 11 55034447 55034447 single base substitution G A intron_variant MELA-AU 11 55034739 55034740 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 55034745 55034745 single base substitution G A intron_variant MELA-AU 11 55034775 55034775 single base substitution A C intron_variant MELA-AU 11 55034856 55034856 single base substitution C T intron_variant MELA-AU 11 55034963 55034963 single base substitution T G intron_variant MELA-AU 11 55034989 55034989 single base substitution G A intron_variant MELA-AU 11 55035003 55035003 single base substitution C T intron_variant MELA-AU 11 55035078 55035078 single base substitution G A intron_variant MELA-AU 11 55035146 55035146 single base substitution G A intron_variant MELA-AU 11 55035171 55035171 single base substitution C T intron_variant MELA-AU 11 55035187 55035187 single base substitution C T intron_variant MELA-AU 11 55035281 55035281 single base substitution C G intron_variant MELA-AU 11 55035285 55035285 single base substitution C T intron_variant MELA-AU 11 55035486 55035486 single base substitution C T intron_variant MELA-AU 11 55035545 55035545 single base substitution G A intron_variant MELA-AU 11 55035557 55035557 single base substitution C T intron_variant MELA-AU 11 55035597 55035597 single base substitution C T intron_variant MELA-AU 11 55035609 55035609 single base substitution G A intron_variant MELA-AU 11 55035678 55035678 single base substitution C T intron_variant MELA-AU 11 55035696 55035696 single base substitution A T intron_variant MELA-AU 11 55035731 55035731 single base substitution A T intron_variant MELA-AU 11 55035833 55035833 single base substitution G A missense_variant G188E 563G>A MELA-AU 11 55035877 55035877 single base substitution G A intron_variant MELA-AU 11 55035894 55035894 single base substitution G A intron_variant MELA-AU 11 55036037 55036037 single base substitution T C intron_variant MELA-AU 11 55036099 55036099 single base substitution G A intron_variant MELA-AU 11 55036143 55036143 single base substitution G A intron_variant MELA-AU 11 55036144 55036144 single base substitution G A intron_variant MELA-AU 11 55036351 55036351 single base substitution G A intron_variant MELA-AU 11 55036361 55036361 single base substitution G C intron_variant MELA-AU 11 55036374 55036374 single base substitution C T intron_variant MELA-AU 11 55036441 55036441 single base substitution C T intron_variant MELA-AU 11 55036588 55036588 single base substitution G A intron_variant MELA-AU 11 55036710 55036710 single base substitution C T splice_region_variant MELA-AU 11 55036820 55036820 single base substitution G A splice_region_variant MELA-AU 11 55037052 55037052 single base substitution G A intron_variant MELA-AU 11 55037094 55037094 single base substitution G A intron_variant MELA-AU 11 55037204 55037204 single base substitution C T intron_variant MELA-AU 11 55037263 55037263 single base substitution G A intron_variant MELA-AU 11 55037266 55037266 single base substitution A T intron_variant MELA-AU 11 55037332 55037332 single base substitution G A intron_variant MELA-AU 11 55037402 55037402 single base substitution C T intron_variant MELA-AU 11 55037459 55037459 single base substitution C T intron_variant MELA-AU 11 55037480 55037480 single base substitution G A intron_variant MELA-AU 11 55037484 55037484 single base substitution T A intron_variant MELA-AU 11 55038005 55038005 single base substitution C T 3_prime_UTR_variant MELA-AU 11 55038089 55038089 single base substitution C T 3_prime_UTR_variant MELA-AU 11 55038106 55038106 single base substitution G A 3_prime_UTR_variant MELA-AU 11 55038132 55038132 single base substitution A G 3_prime_UTR_variant MELA-AU 11 55038144 55038144 single base substitution G A 3_prime_UTR_variant MELA-AU 11 55038289 55038289 single base substitution C T 3_prime_UTR_variant MELA-AU 11 55038290 55038290 single base substitution C T 3_prime_UTR_variant MELA-AU 11 55038340 55038340 single base substitution C T 3_prime_UTR_variant MELA-AU 11 55038367 55038367 single base substitution C T 3_prime_UTR_variant MELA-AU 11 55038631 55038631 single base substitution C T downstream_gene_variant MELA-AU 11 55038644 55038644 single base substitution C T downstream_gene_variant MELA-AU 11 55038697 55038697 single base substitution G A downstream_gene_variant MELA-AU 11 55038744 55038744 single base substitution A G downstream_gene_variant MELA-AU 11 55038911 55038911 single base substitution G A downstream_gene_variant MELA-AU 11 55038938 55038938 single base substitution G A downstream_gene_variant MELA-AU 11 55038991 55038991 single base substitution G A downstream_gene_variant MELA-AU 11 55039046 55039046 single base substitution G C downstream_gene_variant MELA-AU 11 55039077 55039077 single base substitution C T downstream_gene_variant MELA-AU 11 55039084 55039084 single base substitution G A downstream_gene_variant MELA-AU 11 55039195 55039195 single base substitution T C downstream_gene_variant MELA-AU 11 55039260 55039260 single base substitution C T downstream_gene_variant MELA-AU 11 55039569 55039569 single base substitution T G downstream_gene_variant MELA-AU 11 55039623 55039623 single base substitution G A downstream_gene_variant MELA-AU 11 55039762 55039762 single base substitution C T downstream_gene_variant MELA-AU 11 55039777 55039777 single base substitution T C downstream_gene_variant MELA-AU 11 55039856 55039856 single base substitution C T downstream_gene_variant MELA-AU 11 55040306 55040306 single base substitution G A downstream_gene_variant MELA-AU 11 55040307 55040307 single base substitution G A downstream_gene_variant MELA-AU 11 55040453 55040453 single base substitution G A downstream_gene_variant MELA-AU 11 55040500 55040500 single base substitution T C downstream_gene_variant MELA-AU 11 55040520 55040520 single base substitution A T downstream_gene_variant MELA-AU 11 55040873 55040873 single base substitution A T downstream_gene_variant MELA-AU 11 55041414 55041414 single base substitution C T downstream_gene_variant MELA-AU 11 55041465 55041465 single base substitution T C downstream_gene_variant MELA-AU 11 55041506 55041506 single base substitution G A downstream_gene_variant MELA-AU 11 55041595 55041595 single base substitution G A downstream_gene_variant MELA-AU 11 55041658 55041658 single base substitution G A downstream_gene_variant MELA-AU 11 55041874 55041874 single base substitution G A downstream_gene_variant MELA-AU 11 55041938 55041938 single base substitution G A downstream_gene_variant MELA-AU 11 55042077 55042077 single base substitution A C downstream_gene_variant MELA-AU 11 55042221 55042221 single base substitution C T downstream_gene_variant MELA-AU 11 55042268 55042268 single base substitution G A downstream_gene_variant MELA-AU 11 55042272 55042272 single base substitution G A downstream_gene_variant MELA-AU 11 55042365 55042365 single base substitution C T downstream_gene_variant MELA-AU 11 55042366 55042366 single base substitution C T downstream_gene_variant MELA-AU 11 55042405 55042405 single base substitution C T downstream_gene_variant MELA-AU 11 55042420 55042420 single base substitution G A downstream_gene_variant MELA-AU 11 55042466 55042466 single base substitution C T downstream_gene_variant MELA-AU 11 55042714 55042714 single base substitution G A downstream_gene_variant MELA-AU 11 55042725 55042725 single base substitution G A downstream_gene_variant MELA-AU 11 55042795 55042796 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 11 55042848 55042848 single base substitution G A downstream_gene_variant MELA-AU 11 55042983 55042983 single base substitution C T downstream_gene_variant MELA-AU 11 55043044 55043044 single base substitution G A downstream_gene_variant MELA-AU 11 55043074 55043074 single base substitution C T downstream_gene_variant MELA-AU 11 55043099 55043099 single base substitution G A downstream_gene_variant MELA-AU 11 55043157 55043157 single base substitution C T downstream_gene_variant MELA-AU 11 55043162 55043162 single base substitution G A downstream_gene_variant MELA-AU 11 55043170 55043170 single base substitution G A downstream_gene_variant MELA-AU 11 55043195 55043195 single base substitution C T downstream_gene_variant MELA-AU 11 55043241 55043241 single base substitution G A downstream_gene_variant MELA-AU 11 55043344 55043344 single base substitution A T downstream_gene_variant MELA-AU 11 55043391 55043391 single base substitution G A downstream_gene_variant MELA-AU 11 55043402 55043402 single base substitution G A downstream_gene_variant MELA-AU 11 55043405 55043405 single base substitution G A downstream_gene_variant MELA-AU 11 55043545 55043545 single base substitution G A downstream_gene_variant MELA-AU 11 55043555 55043555 single base substitution G A downstream_gene_variant MELA-AU 11 55043590 55043590 single base substitution C T downstream_gene_variant MELA-AU 11 55043592 55043592 single base substitution C T downstream_gene_variant ORCA-IN 11 55032500 55032500 single base substitution C T missense_variant L57F 169C>T ORCA-IN 11 55038290 55038290 single base substitution C T 3_prime_UTR_variant OV-AU 11 55025008 55025008 single base substitution A C upstream_gene_variant OV-AU 11 55025987 55025987 single base substitution G T upstream_gene_variant OV-AU 11 55027890 55027890 single base substitution A C upstream_gene_variant OV-AU 11 55029580 55029580 single base substitution G A upstream_gene_variant OV-AU 11 55033663 55033663 single base substitution T G intron_variant OV-AU 11 55034671 55034671 single base substitution T A intron_variant OV-AU 11 55035469 55035469 single base substitution T G intron_variant OV-AU 11 55035643 55035643 single base substitution C T intron_variant OV-AU 11 55038011 55038011 single base substitution C A 3_prime_UTR_variant OV-AU 11 55039181 55039181 single base substitution A C downstream_gene_variant OV-AU 11 55039694 55039694 single base substitution G C downstream_gene_variant PACA-AU 11 55025065 55025065 single base substitution A C upstream_gene_variant PACA-AU 11 55026126 55026126 single base substitution C T upstream_gene_variant PACA-AU 11 55026222 55026222 single base substitution A T upstream_gene_variant PACA-AU 11 55027105 55027105 single base substitution C T upstream_gene_variant PACA-AU 11 55027232 55027232 single base substitution C A upstream_gene_variant PACA-AU 11 55027283 55027283 single base substitution A C upstream_gene_variant PACA-AU 11 55027935 55027935 single base substitution C A upstream_gene_variant PACA-AU 11 55031723 55031723 single base substitution C T intron_variant PACA-AU 11 55032223 55032223 single base substitution T A intron_variant PACA-AU 11 55032374 55032374 single base substitution A T splice_acceptor_variant PACA-AU 11 55035086 55035086 single base substitution G T intron_variant PACA-AU 11 55035844 55035844 single base substitution T C missense_variant Y192H 574T>C PACA-AU 11 55035854 55035855 multiple base substitution (>=2bp and <=200bp) TA AG splice_region_variant PACA-AU 11 55035862 55035862 single base substitution T A intron_variant PACA-AU 11 55037920 55037920 single base substitution T G 3_prime_UTR_variant PACA-AU 11 55039028 55039028 deletion of <=200bp A - downstream_gene_variant PACA-AU 11 55039057 55039057 single base substitution C G downstream_gene_variant PACA-AU 11 55040185 55040185 single base substitution A C downstream_gene_variant PACA-AU 11 55040886 55040886 single base substitution T G downstream_gene_variant PACA-AU 11 55041121 55041121 single base substitution G T downstream_gene_variant PACA-AU 11 55042110 55042110 single base substitution C A downstream_gene_variant PACA-AU 11 55042286 55042286 single base substitution A G downstream_gene_variant PACA-AU 11 55042817 55042817 single base substitution G A downstream_gene_variant PACA-AU 11 55043378 55043378 single base substitution T A downstream_gene_variant PACA-CA 11 55024931 55024931 single base substitution G A upstream_gene_variant PACA-CA 11 55026377 55026377 single base substitution G T upstream_gene_variant PACA-CA 11 55026418 55026418 single base substitution C G upstream_gene_variant PACA-CA 11 55027167 55027167 single base substitution G T upstream_gene_variant PACA-CA 11 55027647 55027647 single base substitution C A upstream_gene_variant PACA-CA 11 55028739 55028739 single base substitution T C upstream_gene_variant PACA-CA 11 55030263 55030263 single base substitution A C intron_variant PACA-CA 11 55030368 55030368 single base substitution C G intron_variant PACA-CA 11 55030380 55030380 single base substitution T A intron_variant PACA-CA 11 55031636 55031636 single base substitution A G intron_variant PACA-CA 11 55031814 55031814 single base substitution T G intron_variant PACA-CA 11 55031835 55031835 single base substitution T C intron_variant PACA-CA 11 55031904 55031904 single base substitution T G intron_variant PACA-CA 11 55032580 55032580 single base substitution C G missense_variant N83K 249C>G PACA-CA 11 55034438 55034438 single base substitution T A intron_variant PACA-CA 11 55034750 55034750 single base substitution A C intron_variant PACA-CA 11 55035018 55035018 single base substitution A C intron_variant PACA-CA 11 55035046 55035046 single base substitution A T intron_variant PACA-CA 11 55035226 55035226 single base substitution C T intron_variant PACA-CA 11 55035526 55035526 single base substitution G C intron_variant PACA-CA 11 55035558 55035558 single base substitution G C intron_variant PACA-CA 11 55036321 55036321 single base substitution G T intron_variant PACA-CA 11 55036959 55036959 single base substitution C T intron_variant PACA-CA 11 55037569 55037569 single base substitution G C intron_variant PACA-CA 11 55037862 55037862 single base substitution C A intron_variant PACA-CA 11 55038268 55038268 single base substitution T A 3_prime_UTR_variant PACA-CA 11 55038591 55038591 insertion of <=200bp - TA 3_prime_UTR_variant PACA-CA 11 55038748 55038748 single base substitution A G downstream_gene_variant PACA-CA 11 55039638 55039638 single base substitution A T downstream_gene_variant PACA-CA 11 55039670 55039670 single base substitution A G downstream_gene_variant PACA-CA 11 55039831 55039832 deletion of <=200bp CT - downstream_gene_variant PACA-CA 11 55041959 55041959 single base substitution G A downstream_gene_variant PACA-CA 11 55042484 55042484 single base substitution A G downstream_gene_variant PACA-CA 11 55043149 55043149 single base substitution T C downstream_gene_variant PAEN-AU 11 55037620 55037620 single base substitution A T intron_variant PAEN-IT 11 55032500 55032500 single base substitution C T missense_variant L57F 169C>T PAEN-IT 11 55040873 55040873 single base substitution A T downstream_gene_variant PBCA-DE 11 55025608 55025608 insertion of <=200bp - A upstream_gene_variant PBCA-DE 11 55027131 55027139 deletion of <=200bp TATCTAGTT - upstream_gene_variant PBCA-DE 11 55040349 55040349 insertion of <=200bp - A downstream_gene_variant PRAD-CA 11 55027863 55027863 single base substitution A G upstream_gene_variant PRAD-CA 11 55040862 55040862 single base substitution A G downstream_gene_variant PRAD-CA 11 55040890 55040890 single base substitution A T downstream_gene_variant PRAD-UK 11 55028047 55028047 single base substitution G T upstream_gene_variant PRAD-UK 11 55030662 55030662 insertion of <=200bp - AT intron_variant PRAD-UK 11 55030663 55030663 insertion of <=200bp - AT intron_variant PRAD-UK 11 55030726 55030726 single base substitution G T intron_variant PRAD-UK 11 55038678 55038678 deletion of <=200bp T - downstream_gene_variant PRAD-UK 11 55038834 55038834 single base substitution C T downstream_gene_variant PRAD-US 11 55036727 55036727 single base substitution C T synonymous_variant S196S 588C>T RECA-EU 11 55029295 55029295 single base substitution C T upstream_gene_variant RECA-EU 11 55029736 55029736 single base substitution A G 5_prime_UTR_variant RECA-EU 11 55031309 55031309 single base substitution G A intron_variant RECA-EU 11 55035103 55035103 single base substitution G T intron_variant RECA-EU 11 55036209 55036209 single base substitution T A intron_variant SKCA-BR 11 55024938 55024938 single base substitution C T upstream_gene_variant SKCA-BR 11 55025109 55025109 single base substitution C T upstream_gene_variant SKCA-BR 11 55026619 55026619 single base substitution C T upstream_gene_variant SKCA-BR 11 55026643 55026643 single base substitution C T upstream_gene_variant SKCA-BR 11 55027414 55027414 single base substitution A T upstream_gene_variant SKCA-BR 11 55027818 55027818 single base substitution G A upstream_gene_variant SKCA-BR 11 55028790 55028790 single base substitution C T upstream_gene_variant SKCA-BR 11 55029022 55029022 single base substitution C T upstream_gene_variant SKCA-BR 11 55029117 55029117 single base substitution G A upstream_gene_variant SKCA-BR 11 55029688 55029688 single base substitution G A 5_prime_UTR_variant SKCA-BR 11 55029935 55029935 single base substitution G A intron_variant SKCA-BR 11 55030322 55030322 single base substitution G A intron_variant SKCA-BR 11 55030518 55030518 single base substitution G A intron_variant SKCA-BR 11 55031219 55031219 single base substitution G A intron_variant SKCA-BR 11 55031444 55031444 single base substitution G A intron_variant SKCA-BR 11 55032585 55032585 single base substitution G A missense_variant R85Q 254G>A SKCA-BR 11 55032861 55032861 single base substitution G A intron_variant SKCA-BR 11 55033712 55033712 single base substitution G A intron_variant SKCA-BR 11 55033756 55033756 single base substitution G A intron_variant SKCA-BR 11 55033971 55033971 single base substitution C T intron_variant SKCA-BR 11 55034661 55034661 single base substitution C T intron_variant SKCA-BR 11 55034745 55034745 single base substitution G A intron_variant SKCA-BR 11 55035171 55035171 single base substitution C T intron_variant SKCA-BR 11 55035314 55035314 single base substitution A C intron_variant SKCA-BR 11 55035545 55035545 single base substitution G T intron_variant SKCA-BR 11 55037603 55037603 single base substitution T C intron_variant SKCA-BR 11 55038066 55038066 single base substitution C T 3_prime_UTR_variant SKCA-BR 11 55038727 55038727 single base substitution G T downstream_gene_variant SKCA-BR 11 55038784 55038784 single base substitution G A downstream_gene_variant SKCA-BR 11 55038943 55038943 single base substitution A T downstream_gene_variant SKCA-BR 11 55039027 55039027 single base substitution T A downstream_gene_variant SKCA-BR 11 55039077 55039077 single base substitution C T downstream_gene_variant SKCA-BR 11 55040860 55040862 deletion of <=200bp TAA - downstream_gene_variant SKCA-BR 11 55040861 55040861 insertion of <=200bp - ATT downstream_gene_variant SKCA-BR 11 55041658 55041658 single base substitution G A downstream_gene_variant SKCA-BR 11 55041794 55041794 single base substitution C T downstream_gene_variant SKCA-BR 11 55042237 55042237 single base substitution C T downstream_gene_variant SKCA-BR 11 55042315 55042315 single base substitution C T downstream_gene_variant SKCA-BR 11 55042901 55042901 single base substitution T C downstream_gene_variant SKCA-BR 11 55042989 55042989 single base substitution G A downstream_gene_variant SKCA-BR 11 55043099 55043099 single base substitution G A downstream_gene_variant SKCA-BR 11 55043184 55043184 single base substitution A G downstream_gene_variant SKCM-US 11 55032382 55032382 single base substitution G A missense_variant M17I 51G>A SKCM-US 11 55032387 55032387 single base substitution C T missense_variant S19F 56C>T SKCM-US 11 55032390 55032390 single base substitution G A missense_variant G20E 59G>A SKCM-US 11 55032413 55032413 single base substitution G A missense_variant E28K 82G>A SKCM-US 11 55032550 55032550 single base substitution G A synonymous_variant K73K 219G>A SKCM-US 11 55032589 55032589 single base substitution G A synonymous_variant L86L 258G>A SKCM-US 11 55032625 55032625 single base substitution C T synonymous_variant L98L 294C>T SKCM-US 11 55032631 55032631 single base substitution A G synonymous_variant L100L 300A>G SKCM-US 11 55032679 55032679 single base substitution G A synonymous_variant K116K 348G>A SKCM-US 11 55032689 55032689 single base substitution T C missense_variant C120R 358T>C SKCM-US 11 55033125 55033125 single base substitution A T missense_variant N170I 509A>T SKCM-US 11 55036750 55036750 single base substitution C T missense_variant P204L 611C>T SKCM-US 11 55036761 55036761 single base substitution G A missense_variant A208T 622G>A STAD-US 11 55033158 55033158 single base substitution T G missense_variant I181S 542T>G STAD-US 11 55036792 55036792 single base substitution G C missense_variant R218T 653G>C UCEC-US 11 55032550 55032550 single base substitution G T missense_variant K73N 219G>T UCEC-US 11 55032643 55032643 single base substitution T C synonymous_variant S104S 312T>C UCEC-US 11 55032653 55032653 single base substitution A T missense_variant M108L 322A>T UCEC-US 11 55032719 55032719 single base substitution C A missense_variant L130M 388C>A UCEC-US 11 55033090 55033090 single base substitution G T missense_variant K158N 474G>T UCEC-US 11 55035844 55035844 single base substitution T C missense_variant Y192H 574T>C UCEC-US 11 55036790 55036790 single base substitution G A synonymous_variant L217L 651G>A UCEC-US 11 55038010 55038010 single base substitution C A 3_prime_UTR_variant UCEC-US 11 55038046 55038046 single base substitution G A 3_prime_UTR_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand SNUH_G47_S1 COSM3676170 c.45-9C>T p.? Unknown 11:55264891-55264891 + sysucc-274T COSM3383548 c.530+7A>G p.? Unknown 11:55268379-55268379 + TCGA-FS-A4F0-06 COSM3448750 c.461A>T p.N154I Substitution - Missense 11:55265649-55265649 + ESCC_BICR_057T COSM5436766 c.100T>G p.C34G Substitution - Missense 11:55264955-55264955 + T1154 COSM927946 c.526T>C p.Y176H Substitution - Missense 11:55268368-55268368 + S00472 COSM316155 c.284A>T p.K95I Substitution - Missense 11:55265139-55265139 + 585210 COSM323986 c.471C>A p.N157K Substitution - Missense 11:55265659-55265659 + CSCC-55-T COSM4483920 c.274C>T p.L92F Substitution - Missense 11:55265129-55265129 + TCGA-G4-6320-01 COSM3687365 c.51C>A p.I17I Substitution - coding silent 11:55264954-55264954 + PT44 COSM5926809 c.414G>A p.E138E Substitution - coding silent 11:55265602-55265602 + TCGA-AP-A0LM-01 COSM927935 c.219G>T p.K73N Substitution - Missense 11:55265074-55265074 + BN36T COSM1604673 c.201C>A p.N67K Substitution - Missense 11:55265104-55265104 + T3535 COSM927946 c.526T>C p.Y176H Substitution - Missense 11:55268368-55268368 + T3724 COSM927945 c.574T>C p.Y192H Substitution - Missense 11:55268368-55268368 + TCGA-D3-A3C8-06 COSM3448740 c.11G>A p.G4E Substitution - Missense 11:55264914-55264914 + T263 COSM927946 c.526T>C p.Y176H Substitution - Missense 11:55268368-55268368 + Pat_31_A COSM927946 c.526T>C p.Y176H Substitution - Missense 11:55268368-55268368 + B24 COSM1746305 c.485C>T p.T162I Substitution - Missense 11:55265673-55265673 + T2578 COSM927946 c.526T>C p.Y176H Substitution - Missense 11:55268368-55268368 + LUAD-RT-S01832 COSM384595 c.10G>T p.G4* Substitution - Nonsense 11:55264913-55264913 + SNUH_G47_S1 COSM3676186 c.25T>C p.F9L Substitution - Missense 11:55264928-55264928 + CSCC-55-T COSM4483921 c.226C>T p.L76F Substitution - Missense 11:55265129-55265129 + Pat_46_A COSM5838749 c.268G>A p.E90K Substitution - Missense 11:55265171-55265171 + T1760 COSM927945 c.574T>C p.Y192H Substitution - Missense 11:55268368-55268368 + TCGA-AP-A0LT-01 COSM927946 c.526T>C p.Y176H Substitution - Missense 11:55268368-55268368 + TCGA-BG-A0M0-01 COSM927945 c.574T>C p.Y192H Substitution - Missense 11:55268368-55268368 + TCGA-AC-A23H-01 COSM3809450 c.99C>G p.I33M Substitution - Missense 11:55264954-55264954 + HN_62624 COSM127207 c.508-1G>A p.? Unknown 11:55268349-55268349 + ITNET_0673_T COSM222206 c.121C>T p.L41F Substitution - Missense 11:55265024-55265024 + BD124T COSM3383546 c.530+6T>A p.? Unknown 11:55268378-55268378 + TCGA-AP-A0LD-01 COSM927946 c.526T>C p.Y176H Substitution - Missense 11:55268368-55268368 + STC291 COSM927945 c.574T>C p.Y192H Substitution - Missense 11:55268368-55268368 + BN02 COSM1604671 c.181C>A p.Q61K Substitution - Missense 11:55265084-55265084 + CSCC-52-T COSM4567189 c.10_11GG>AA p.G4K Substitution - Missense 11:55264913-55264914 + J65_T COSM3953234 c.441G>C p.W147C Substitution - Missense 11:55265296-55265296 + 1_RESISTANT COSM1721380 c.445G>A p.E149K Substitution - Missense 11:55265633-55265633 + ESCC_BICR_057T COSM5436767 c.52T>G p.C18G Substitution - Missense 11:55264955-55264955 + QC2-39-T2 COSM222206 c.121C>T p.L41F Substitution - Missense 11:55265024-55265024 + STC291 COSM927946 c.526T>C p.Y176H Substitution - Missense 11:55268368-55268368 + SNUH_G47_S1 COSM3676176 c.12A>T p.G4G Substitution - coding silent 11:55264915-55264915 + TCGA-FS-A1ZK-06 COSM3448754 c.574G>A p.A192T Substitution - Missense 11:55269285-55269285 + HN_62686 COSM129902 c.40A>T p.T14S Substitution - Missense 11:55264943-55264943 + J73_T COSM3953236 c.459+2T>A p.? Unknown 11:55265316-55265316 + MO_1013 COSM5560779 c.525T>C p.N175N Substitution - coding silent 11:55265665-55265665 + SNUH_G47_S1 COSM3676182 c.18G>T p.S6S Substitution - coding silent 11:55264921-55264921 + TCGA-FW-A3R5-06 COSM3869348 c.258G>A p.L86L Substitution - coding silent 11:55265113-55265113 + T3174 COSM927945 c.574T>C p.Y192H Substitution - Missense 11:55268368-55268368 + 2334202 COSM323989 c.550T>A p.W184R Substitution - Missense 11:55265690-55265690 + PR-04-3113 COSM247990 c.662T>G p.L221R Substitution - Missense 11:55269325-55269325 + CSCC-52-T COSM4567188 c.58_59GG>AA p.G20K Substitution - Missense 11:55264913-55264914 + T368 COSM927945 c.574T>C p.Y192H Substitution - Missense 11:55268368-55268368 + LUAD-RT-S01487 COSM377838 c.183C>A p.D61E Substitution - Missense 11:55265038-55265038 + TCGA-A5-A0GA-01 COSM927946 c.526T>C p.Y176H Substitution - Missense 11:55268368-55268368 + TCGA-FW-A3R5-06 COSM3448741 c.82G>A p.E28K Substitution - Missense 11:55264937-55264937 + TCGA-EE-A2M5-06 COSM3448746 c.300G>A p.K100K Substitution - coding silent 11:55265203-55265203 + SNUH_G47_S1 COSM3676180 c.17C>T p.S6L Substitution - Missense 11:55264920-55264920 + 8 COSM927945 c.574T>C p.Y192H Substitution - Missense 11:55268368-55268368 + S02244 COSM5701990 c.257_258TG>AA p.L86* Substitution - Nonsense 11:55265112-55265113 + TCGA-FW-A3R5-06 COSM3448742 c.34G>A p.E12K Substitution - Missense 11:55264937-55264937 + sysucc-783T COSM927946 c.526T>C p.Y176H Substitution - Missense 11:55268368-55268368 + TCGA-D3-A3ML-06 COSM3448736 c.3G>A p.M1I Substitution - Missense 11:55264906-55264906 + LUAD-RT-S01487 COSM377839 c.135C>A p.D45E Substitution - Missense 11:55265038-55265038 + 673T COSM222207 c.169C>T p.L57F Substitution - Missense 11:55265024-55265024 + YUKAT COSM5372685 c.255C>T p.F85F Substitution - coding silent 11:55265158-55265158 + NB-3186 COSM1288624 c.193C>A p.L65I Substitution - Missense 11:55265048-55265048 + TCGA-EE-A20F-06 COSM3448735 c.51G>A p.M17I Substitution - Missense 11:55264906-55264906 + TCGA-FR-A3YO-06 COSM3448748 c.310T>C p.C104R Substitution - Missense 11:55265213-55265213 + SNUH_G47_S1 COSM3676171 c.45-2A>T p.? Unknown 11:55264898-55264898 + SNUH_G47_S1 COSM3676173 c.58G>A p.G20R Substitution - Missense 11:55264913-55264913 + TCGA-DK-A3WW-01 COSM3791550 c.370C>T p.H124Y Substitution - Missense 11:55265273-55265273 + 8016470 COSM3383545 c.578+6T>A p.? Unknown 11:55268378-55268378 + CSCC-29-T COSM4454802 c.536A>C p.E179A Substitution - Missense 11:55269247-55269247 + LUAD-D02085 COSM363215 c.556C>A p.P186T Substitution - Missense 11:55269267-55269267 + YURAY COSM5372682 c.272C>T p.S91F Substitution - Missense 11:55265127-55265127 + STC232 COSM927946 c.526T>C p.Y176H Substitution - Missense 11:55268368-55268368 + SNUH_G47_S1 COSM3676175 c.60A>T p.G20G Substitution - coding silent 11:55264915-55264915 + TCGA-CD-8526-01 COSM4033574 c.605G>C p.R202T Substitution - Missense 11:55269316-55269316 + TCGA-D1-A17D-01 COSM927946 c.526T>C p.Y176H Substitution - Missense 11:55268368-55268368 + ORL-48 COSM4596896 c.290G>A p.R97K Substitution - Missense 11:55265193-55265193 + TCGA-DU-6542-01 COSM3967574 c.508-2A>G p.? Unknown 11:55268348-55268348 + 587386 COSM376580 c.146G>A p.S49N Substitution - Missense 11:55265001-55265001 + T3498 COSM927945 c.574T>C p.Y192H Substitution - Missense 11:55268368-55268368 + TCGA-A5-A0GA-01 COSM927945 c.574T>C p.Y192H Substitution - Missense 11:55268368-55268368 + SNUH_G47_S1 COSM3676174 c.10G>A p.G4R Substitution - Missense 11:55264913-55264913 + T3535 COSM927945 c.574T>C p.Y192H Substitution - Missense 11:55268368-55268368 + YUKAT COSM5372684 c.303C>T p.F101F Substitution - coding silent 11:55265158-55265158 + S00472 COSM316154 c.236A>T p.K79I Substitution - Missense 11:55265139-55265139 + TCGA-BG-A0M4-01 COSM927946 c.526T>C p.Y176H Substitution - Missense 11:55268368-55268368 + BN02T COSM1604670 c.229C>A p.Q77K Substitution - Missense 11:55265084-55265084 + TCGA-AN-A0AK-01 COSM927945 c.574T>C p.Y192H Substitution - Missense 11:55268368-55268368 + T1760 COSM927946 c.526T>C p.Y176H Substitution - Missense 11:55268368-55268368 + sysucc-1370T COSM927945 c.574T>C p.Y192H Substitution - Missense 11:55268368-55268368 + 2334202 COSM323988 c.502T>A p.W168R Substitution - Missense 11:55265690-55265690 + T3340 COSM927946 c.526T>C p.Y176H Substitution - Missense 11:55268368-55268368 + pfg008T COSM1638868 c.61T>C p.Y21H Substitution - Missense 11:55264964-55264964 + BN36 COSM1604672 c.249C>A p.N83K Substitution - Missense 11:55265104-55265104 + TCGA-AM-5820-01 COSM3752447 c.468T>G p.L156L Substitution - coding silent 11:55265608-55265608 + PT51 COSM5938303 c.28C>T p.L10F Substitution - Missense 11:55262295-55262295 + pfg008T COSM1638867 c.109T>C p.Y37H Substitution - Missense 11:55264964-55264964 + pfg008T COSM1638867 c.109T>C p.Y37H Substitution - Missense 11:55264964-55264964 + TCGA-BS-A0TC-01 COSM927943 c.474G>T p.K158N Substitution - Missense 11:55265614-55265614 + Ramos COSM1159836 c.523T>A p.L175I Substitution - Missense 11:55268365-55268365 + TCGA-AP-A0LD-01 COSM927945 c.574T>C p.Y192H Substitution - Missense 11:55268368-55268368 + TCGA-AM-5821-01 COSM1192662 c.20A>C p.Q7P Substitution - Missense 11:55264923-55264923 + PT23_2 COSM3448742 c.34G>A p.E12K Substitution - Missense 11:55264937-55264937 + BN02T COSM1604671 c.181C>A p.Q61K Substitution - Missense 11:55265084-55265084 + LUAD-B01811 COSM355832 c.278C>A p.A93D Substitution - Missense 11:55265133-55265133 + T3090 COSM927946 c.526T>C p.Y176H Substitution - Missense 11:55268368-55268368 + TCGA-AP-A059-01 COSM927941 c.388C>A p.L130M Substitution - Missense 11:55265243-55265243 + sysucc-1397T COSM927945 c.574T>C p.Y192H Substitution - Missense 11:55268368-55268368 + Pat_46_B COSM5838749 c.268G>A p.E90K Substitution - Missense 11:55265171-55265171 + ESO-717 COSM927946 c.526T>C p.Y176H Substitution - Missense 11:55268368-55268368 + C467 COSM927945 c.574T>C p.Y192H Substitution - Missense 11:55268368-55268368 + sysucc-783T COSM927945 c.574T>C p.Y192H Substitution - Missense 11:55268368-55268368 + MO_1013 COSM5548810 c.500C>T p.A167V Substitution - Missense 11:55265640-55265640 + TCGA-43-6143-01 COSM689032 c.58G>C p.G20R Substitution - Missense 11:55264913-55264913 + T276 COSM927946 c.526T>C p.Y176H Substitution - Missense 11:55268368-55268368 + SNUH_G47_S1 COSM3448738 c.8C>T p.S3F Substitution - Missense 11:55264911-55264911 + BD72T COSM927945 c.574T>C p.Y192H Substitution - Missense 11:55268368-55268368 + TCGA-AM-5821-01 COSM147198 c.44G>A p.R15Q Substitution - Missense 11:55262311-55262311 + TCGA-BS-A0UF-01 COSM927940 c.274A>T p.M92L Substitution - Missense 11:55265177-55265177 + CSCC-31-T COSM4564054 c.460_461GA>AG p.E154R Substitution - Missense 11:55265600-55265601 + TCGA-KK-A59V-01 COSM4878209 c.588C>T p.S196S Substitution - coding silent 11:55269251-55269251 + PT36 COSM5916130 c.215A>T p.K72M Substitution - Missense 11:55265118-55265118 + BD124T COSM927946 c.526T>C p.Y176H Substitution - Missense 11:55268368-55268368 + T3024 COSM927946 c.526T>C p.Y176H Substitution - Missense 11:55268368-55268368 + TCGA-BG-A0M0-01 COSM927946 c.526T>C p.Y176H Substitution - Missense 11:55268368-55268368 + 1N52-VS-1T52 COSM4976745 c.531-2A>T p.? Unknown 11:55269240-55269240 + ESO-171 COSM1268549 c.394T>C p.S132P Substitution - Missense 11:55265249-55265249 + C467 COSM927946 c.526T>C p.Y176H Substitution - Missense 11:55268368-55268368 + 2334202 COSM323991 c.552G>T p.W184C Substitution - Missense 11:55265692-55265692 + TCGA-D1-A17H-01 COSM927946 c.526T>C p.Y176H Substitution - Missense 11:55268368-55268368 + TCGA-AP-A054-01 COSM927946 c.526T>C p.Y176H Substitution - Missense 11:55268368-55268368 + TCGA-D3-A3ML-06 COSM3448735 c.51G>A p.M17I Substitution - Missense 11:55264906-55264906 + TCGA-D1-A163-01 COSM927937 c.312T>C p.S104S Substitution - coding silent 11:55265167-55265167 + TCGA-CU-A0YN-01 COSM415571 c.605C>T p.P202L Substitution - Missense 11:55269268-55269268 + TCGA-D5-6927-01 COSM1354379 c.299T>C p.L100P Substitution - Missense 11:55265154-55265154 + CSCC-29-T COSM4454801 c.584A>C p.E195A Substitution - Missense 11:55269247-55269247 + TCGA-A5-A0VQ-01 COSM927946 c.526T>C p.Y176H Substitution - Missense 11:55268368-55268368 + TCGA-BK-A0C9-01 COSM927948 c.603G>A p.L201L Substitution - coding silent 11:55269314-55269314 + TCGA-AM-5821-01 COSM1192661 c.68A>C p.Q23P Substitution - Missense 11:55264923-55264923 + TCGA-EE-A20F-06 COSM3448736 c.3G>A p.M1I Substitution - Missense 11:55264906-55264906 + T3498 COSM927946 c.526T>C p.Y176H Substitution - Missense 11:55268368-55268368 + T368 COSM927946 c.526T>C p.Y176H Substitution - Missense 11:55268368-55268368 + TCGA-AP-A059-01 COSM927942 c.340C>A p.L114M Substitution - Missense 11:55265243-55265243 + LUAD-S01345 COSM396673 c.284T>C p.I95T Substitution - Missense 11:55265187-55265187 + YUSMI COSM5372681 c.160G>A p.E54K Substitution - Missense 11:55265063-55265063 + TCGA-D5-6927-01 COSM1354380 c.251T>C p.L84P Substitution - Missense 11:55265154-55265154 + 2334202 COSM323990 c.504G>T p.W168C Substitution - Missense 11:55265692-55265692 + BD124T COSM3383545 c.578+6T>A p.? Unknown 11:55268378-55268378 + PDA_001 COSM396673 c.284T>C p.I95T Substitution - Missense 11:55265187-55265187 + 8016470 COSM3383546 c.530+6T>A p.? Unknown 11:55268378-55268378 + ME002T COSM222207 c.169C>T p.L57F Substitution - Missense 11:55265024-55265024 + LUAD-F00018 COSM338964 c.324G>A p.R108R Substitution - coding silent 11:55265227-55265227 + TCGA-D1-A163-01 COSM927938 c.264T>C p.S88S Substitution - coding silent 11:55265167-55265167 + LUAD-F00018 COSM338963 c.372G>A p.R124R Substitution - coding silent 11:55265227-55265227 + ESO-171 COSM1268550 c.346T>C p.S116P Substitution - Missense 11:55265249-55265249 + TCGA-AB-2803-03 COSM1317303 c.533C>A p.T178N Substitution - Missense 11:55265673-55265673 + I2L-P24Ta-Tumor-Biopsy COSM927946 c.526T>C p.Y176H Substitution - Missense 11:55268368-55268368 + 2296_T COSM3953238 c.599A>T p.H200L Substitution - Missense 11:55269262-55269262 + PT37 COSM4193974 c.579-8C>T p.? Unknown 11:55269234-55269234 + TCGA-D8-A13Y-01 COSM429146 c.428G>A p.C143Y Substitution - Missense 11:55265283-55265283 + PT35 COSM5913294 c.193C>T p.L65F Substitution - Missense 11:55265048-55265048 + TCGA-D3-A3C8-06 COSM3448739 c.59G>A p.G20E Substitution - Missense 11:55264914-55264914 + TCGA-BG-A0MQ-01 COSM927946 c.526T>C p.Y176H Substitution - Missense 11:55268368-55268368 + CSCC-31-T COSM4564055 c.412_413GA>AG p.E138R Substitution - Missense 11:55265600-55265601 + TCGA-34-5232-01 COSM689031 c.29A>T p.Q10L Substitution - Missense 11:55264932-55264932 + LUAD-D02085 COSM363214 c.604C>A p.P202T Substitution - Missense 11:55269267-55269267 + GC8_T COSM147198 c.44G>A p.R15Q Substitution - Missense 11:55262311-55262311 + TCGA-EE-A29D-06 COSM3448743 c.219G>A p.K73K Substitution - coding silent 11:55265074-55265074 + 1N52-VS-1T52 COSM4976744 c.579-2A>T p.? Unknown 11:55269240-55269240 + T2944 COSM927945 c.574T>C p.Y192H Substitution - Missense 11:55268368-55268368 + sysucc-882T COSM927946 c.526T>C p.Y176H Substitution - Missense 11:55268368-55268368 + T3094 COSM927946 c.526T>C p.Y176H Substitution - Missense 11:55268368-55268368 + YUSMI COSM5372680 c.208G>A p.E70K Substitution - Missense 11:55265063-55265063 + TCGA-EE-A29D-06 COSM3448744 c.171G>A p.K57K Substitution - coding silent 11:55265074-55265074 + TCGA-DU-6542-01 COSM3967573 c.556-2A>G p.? Unknown 11:55268348-55268348 + BD124T COSM3383547 c.578+7A>G p.? Unknown 11:55268379-55268379 + SNUH_G47_S1 COSM3676178 c.15C>T p.I5I Substitution - coding silent 11:55264918-55264918 + TCGA-FS-A4F0-06 COSM3448749 c.509A>T p.N170I Substitution - Missense 11:55265649-55265649 + TCGA-AP-A054-01 COSM927945 c.574T>C p.Y192H Substitution - Missense 11:55268368-55268368 + TCGA-DK-A3WW-01 COSM3791549 c.418C>T p.H140Y Substitution - Missense 11:55265273-55265273 + 673T COSM222206 c.121C>T p.L41F Substitution - Missense 11:55265024-55265024 + S00472 COSM316154 c.236A>T p.K79I Substitution - Missense 11:55265139-55265139 + ME002T COSM222206 c.121C>T p.L41F Substitution - Missense 11:55265024-55265024 + TCGA-QB-A6FS-06 COSM3869351 c.246C>T p.L82L Substitution - coding silent 11:55265149-55265149 + Ramos COSM1159835 c.571T>A p.L191I Substitution - Missense 11:55268365-55268365 + CSCC-4-T COSM4480331 c.192C>T p.L64L Substitution - coding silent 11:55265095-55265095 + ORL-48 COSM4596895 c.338G>A p.R113K Substitution - Missense 11:55265193-55265193 + B86-Tumor COSM1746302 c.403C>G p.Q135E Substitution - Missense 11:55265258-55265258 + ESO-0013 COSM1268546 c.302A>C p.K101T Substitution - Missense 11:55265205-55265205 + LUAD-S01345 COSM396672 c.332T>C p.I111T Substitution - Missense 11:55265187-55265187 + 585210 COSM323987 c.519C>A p.N173K Substitution - Missense 11:55265659-55265659 + sysucc-1317T COSM927946 c.526T>C p.Y176H Substitution - Missense 11:55268368-55268368 + ESO-0025 COSM1268547 c.230A>G p.Q77R Substitution - Missense 11:55265085-55265085 + TCGA-BF-A1Q0-01 COSM3448752 c.563C>T p.P188L Substitution - Missense 11:55269274-55269274 + 8016470 COSM3383548 c.530+7A>G p.? Unknown 11:55268379-55268379 + EGC3 COSM927945 c.574T>C p.Y192H Substitution - Missense 11:55268368-55268368 + SNUH_G47_S1 COSM3676177 c.63C>T p.I21I Substitution - coding silent 11:55264918-55264918 + TCGA-BS-A0UF-01 COSM927939 c.322A>T p.M108L Substitution - Missense 11:55265177-55265177 + STC232 COSM927945 c.574T>C p.Y192H Substitution - Missense 11:55268368-55268368 + PT23_2 COSM3448741 c.82G>A p.E28K Substitution - Missense 11:55264937-55264937 + NB-3186 COSM1288625 c.145C>A p.L49I Substitution - Missense 11:55265048-55265048 + C709 COSM927946 c.526T>C p.Y176H Substitution - Missense 11:55268368-55268368 + Pat_31_A COSM927945 c.574T>C p.Y192H Substitution - Missense 11:55268368-55268368 + sysucc-1317T COSM927945 c.574T>C p.Y192H Substitution - Missense 11:55268368-55268368 + CSCC-27-T COSM4550651 c.457G>A p.E153K Substitution - Missense 11:55265645-55265645 + T263 COSM927945 c.574T>C p.Y192H Substitution - Missense 11:55268368-55268368 + TCGA-AP-A0LT-01 COSM927945 c.574T>C p.Y192H Substitution - Missense 11:55268368-55268368 + 8058303 COSM3676171 c.45-2A>T p.? Unknown 11:55264898-55264898 + LP6007398-DNA_A01 COSM5951776 c.332T>C p.L111P Substitution - Missense 11:55265235-55265235 + sysucc-880T COSM3383548 c.530+7A>G p.? Unknown 11:55268379-55268379 + TCGA-A5-A0GW-01 COSM927945 c.574T>C p.Y192H Substitution - Missense 11:55268368-55268368 + B24-Tumor COSM1746304 c.533C>T p.T178I Substitution - Missense 11:55265673-55265673 + S02244 COSM5701991 c.209_210TG>AA p.L70* Substitution - Nonsense 11:55265112-55265113 + 587238 COSM927946 c.526T>C p.Y176H Substitution - Missense 11:55268368-55268368 + LUAD-B01811 COSM355833 c.230C>A p.A77D Substitution - Missense 11:55265133-55265133 + sysucc-783T COSM3383548 c.530+7A>G p.? Unknown 11:55268379-55268379 + LUAD-RT-S01832 COSM384594 c.58G>T p.G20* Substitution - Nonsense 11:55264913-55264913 + SNUH_G47_S1 COSM3676179 c.65C>T p.S22L Substitution - Missense 11:55264920-55264920 + TCGA-FR-A3YO-06 COSM3448747 c.358T>C p.C120R Substitution - Missense 11:55265213-55265213 + LP6007600 COSM5036709 c.557C>A p.A186D Substitution - Missense 11:55268351-55268351 + SNUH_G47_S1 COSM3448737 c.56C>T p.S19F Substitution - Missense 11:55264911-55264911 + OSCC-GB_00920111 COSM222206 c.121C>T p.L41F Substitution - Missense 11:55265024-55265024 + TCGA-22-4595-01 COSM689028 c.133G>T p.D45Y Substitution - Missense 11:55264988-55264988 + MO_1013 COSM5548811 c.452C>T p.A151V Substitution - Missense 11:55265640-55265640 + I2L-P24Ta-Tumor-Biopsy COSM927945 c.574T>C p.Y192H Substitution - Missense 11:55268368-55268368 + LUAD-S01341 COSM396672 c.332T>C p.I111T Substitution - Missense 11:55265187-55265187 + TCGA-EE-A183-06 COSM3448741 c.82G>A p.E28K Substitution - Missense 11:55264937-55264937 + I2L-P7-Tumor-Organoid COSM927945 c.574T>C p.Y192H Substitution - Missense 11:55268368-55268368 + sysucc-783T COSM3383547 c.578+7A>G p.? Unknown 11:55268379-55268379 + 587222 COSM1230348 c.56C>A p.S19Y Substitution - Missense 11:55264911-55264911 + LUAD-NYU847 COSM376580 c.146G>A p.S49N Substitution - Missense 11:55265001-55265001 + S00472 COSM316155 c.284A>T p.K95I Substitution - Missense 11:55265139-55265139 + C662 COSM927945 c.574T>C p.Y192H Substitution - Missense 11:55268368-55268368 + SNUH_G47_S1 COSM3676183 c.70G>A p.V24I Substitution - Missense 11:55264925-55264925 + EGC3 COSM927946 c.526T>C p.Y176H Substitution - Missense 11:55268368-55268368 + T3090 COSM927945 c.574T>C p.Y192H Substitution - Missense 11:55268368-55268368 + TCGA-FW-A3R5-06 COSM3869349 c.210G>A p.L70L Substitution - coding silent 11:55265113-55265113 + TCGA-43-6143-01 COSM689033 c.10G>C p.G4R Substitution - Missense 11:55264913-55264913 + YURAY COSM5372683 c.224C>T p.S75F Substitution - Missense 11:55265127-55265127 + LP6007600 COSM5036710 c.509C>A p.A170D Substitution - Missense 11:55268351-55268351 + TCGA-KK-A59V-01 COSM4878210 c.540C>T p.S180S Substitution - coding silent 11:55269251-55269251 + ESO-717 COSM927945 c.574T>C p.Y192H Substitution - Missense 11:55268368-55268368 + H2171 COSM316152 c.581G>T p.R194M Substitution - Missense 11:55269292-55269292 + SNUH_G47_S1 COSM3676184 c.22G>A p.V8I Substitution - Missense 11:55264925-55264925 + TCGA-37-3789-01 COSM689023 c.383C>A p.P128H Substitution - Missense 11:55265286-55265286 + PDA_001 COSM396672 c.332T>C p.I111T Substitution - Missense 11:55265187-55265187 + Pat_40_A COSM927946 c.526T>C p.Y176H Substitution - Missense 11:55268368-55268368 + 1_RESISTANT COSM1721379 c.493G>A p.E165K Substitution - Missense 11:55265633-55265633 + T3724 COSM927946 c.526T>C p.Y176H Substitution - Missense 11:55268368-55268368 + TCGA-QB-A6FS-06 COSM3869350 c.294C>T p.L98L Substitution - coding silent 11:55265149-55265149 + pfg008T COSM1638868 c.61T>C p.Y21H Substitution - Missense 11:55264964-55264964 + TCGA-D1-A17H-01 COSM927945 c.574T>C p.Y192H Substitution - Missense 11:55268368-55268368 + PR-04-3113 COSM247989 c.614T>G p.L205R Substitution - Missense 11:55269325-55269325 + TCGA-B0-5098-01 COSM1492591 c.143T>C p.I48T Substitution - Missense 11:55265046-55265046 + B86 COSM1746303 c.355C>G p.Q119E Substitution - Missense 11:55265258-55265258 + TCGA-EB-A5SE-01 COSM3448737 c.56C>T p.S19F Substitution - Missense 11:55264911-55264911 + TCGA-CU-A0YN-01 COSM415572 c.557C>T p.P186L Substitution - Missense 11:55269268-55269268 + TCGA-D1-A17D-01 COSM927945 c.574T>C p.Y192H Substitution - Missense 11:55268368-55268368 + TCGA-BF-A3DM-01 COSM3869353 c.252A>G p.L84L Substitution - coding silent 11:55265155-55265155 + TCGA-A5-A0VQ-01 COSM927945 c.574T>C p.Y192H Substitution - Missense 11:55268368-55268368 + TCGA-BG-A0M4-01 COSM927945 c.574T>C p.Y192H Substitution - Missense 11:55268368-55268368 + SJHGG045_A COSM4970884 c.402G>A p.E134E Substitution - coding silent 11:55265305-55265305 + PT37 COSM5920298 c.422G>A p.R141K Substitution - Missense 11:55265277-55265277 + TCGA-CD-A48A-01 COSM4033572 c.494T>G p.I165S Substitution - Missense 11:55265682-55265682 + J65_T COSM3953235 c.393G>C p.W131C Substitution - Missense 11:55265296-55265296 + PT44 COSM5926808 c.462G>A p.E154E Substitution - coding silent 11:55265602-55265602 + ESO-0025 COSM1268548 c.182A>G p.Q61R Substitution - Missense 11:55265085-55265085 + OSCC-GB_00920111 COSM222207 c.169C>T p.L57F Substitution - Missense 11:55265024-55265024 + T3174 COSM927946 c.526T>C p.Y176H Substitution - Missense 11:55268368-55268368 + TCGA-BS-A0UA-01 COSM927945 c.574T>C p.Y192H Substitution - Missense 11:55268368-55268368 + TCGA-43-3920-01 COSM689027 c.226C>G p.L76V Substitution - Missense 11:55265129-55265129 + TCGA-BF-A1Q0-01 COSM3448751 c.611C>T p.P204L Substitution - Missense 11:55269274-55269274 + T1154 COSM927945 c.574T>C p.Y192H Substitution - Missense 11:55268368-55268368 + TCGA-AN-A0AK-01 COSM927946 c.526T>C p.Y176H Substitution - Missense 11:55268368-55268368 + BD124T COSM3383548 c.530+7A>G p.? Unknown 11:55268379-55268379 + STC246 COSM927945 c.574T>C p.Y192H Substitution - Missense 11:55268368-55268368 + LUAD-RT-S01831 COSM384229 c.394G>T p.A132S Substitution - Missense 11:55265297-55265297 + SNUH_G47_S1 COSM3676172 c.48C>A p.N16K Substitution - Missense 11:55264903-55264903 + ITNET_0673_T COSM222207 c.169C>T p.L57F Substitution - Missense 11:55265024-55265024 + QC2-39-T2 COSM222207 c.169C>T p.L57F Substitution - Missense 11:55265024-55265024 + T3262 COSM927946 c.526T>C p.Y176H Substitution - Missense 11:55268368-55268368 + 8 COSM927946 c.526T>C p.Y176H Substitution - Missense 11:55268368-55268368 + CSCC-27-T COSM4454468 c.497A>G p.K166R Substitution - Missense 11:55265637-55265637 + B86 COSM1746302 c.403C>G p.Q135E Substitution - Missense 11:55265258-55265258 + T2578 COSM927945 c.574T>C p.Y192H Substitution - Missense 11:55268368-55268368 + TCGA-34-5232-01 COSM689030 c.77A>T p.Q26L Substitution - Missense 11:55264932-55264932 + TCGA-63-6202-01 COSM689024 c.402T>A p.S134S Substitution - coding silent 11:55265257-55265257 + LUAD-RT-S01831 COSM384228 c.442G>T p.A148S Substitution - Missense 11:55265297-55265297 + J73_T COSM3953237 c.411+2T>A p.? Unknown 11:55265316-55265316 + BN02 COSM1604670 c.229C>A p.Q77K Substitution - Missense 11:55265084-55265084 + 8016470 COSM3383547 c.578+7A>G p.? Unknown 11:55268379-55268379 + TCGA-BS-A0TC-01 COSM927944 c.426G>T p.K142N Substitution - Missense 11:55265614-55265614 + ESO-0013 COSM1268545 c.350A>C p.K117T Substitution - Missense 11:55265205-55265205 + C662 COSM927946 c.526T>C p.Y176H Substitution - Missense 11:55268368-55268368 + CSCC-27-T COSM4454469 c.449A>G p.K150R Substitution - Missense 11:55265637-55265637 + sysucc-880T COSM927946 c.526T>C p.Y176H Substitution - Missense 11:55268368-55268368 + TCGA-37-3789-01 COSM689022 c.431C>A p.P144H Substitution - Missense 11:55265286-55265286 + T3118 COSM927945 c.574T>C p.Y192H Substitution - Missense 11:55268368-55268368 + I2L-P7-Tumor-Organoid COSM927946 c.526T>C p.Y176H Substitution - Missense 11:55268368-55268368 + STC297 COSM927946 c.526T>C p.Y176H Substitution - Missense 11:55268368-55268368 + T2944 COSM927946 c.526T>C p.Y176H Substitution - Missense 11:55268368-55268368 + TCGA-EE-A2M5-06 COSM3448745 c.348G>A p.K116K Substitution - coding silent 11:55265203-55265203 + TCGA-CD-A48A-01 COSM4033571 c.542T>G p.I181S Substitution - Missense 11:55265682-55265682 + MO_1013 COSM5560780 c.477T>C p.N159N Substitution - coding silent 11:55265665-55265665 + Pat_40_A COSM927945 c.574T>C p.Y192H Substitution - Missense 11:55268368-55268368 + BD124T COSM927945 c.574T>C p.Y192H Substitution - Missense 11:55268368-55268368 + TCGA-D8-A13Y-01 COSM429147 c.380G>A p.C127Y Substitution - Missense 11:55265283-55265283 + Pat_46_A COSM5838748 c.316G>A p.E106K Substitution - Missense 11:55265171-55265171 + TCGA-AC-A23H-01 COSM3809451 c.51C>G p.I17M Substitution - Missense 11:55264954-55264954 + TCGA-BK-A0C9-01 COSM927947 c.651G>A p.L217L Substitution - coding silent 11:55269314-55269314 + TCGA-B0-5098-01 COSM1492590 c.191T>C p.I64T Substitution - Missense 11:55265046-55265046 + LUAD-S01341 COSM396673 c.284T>C p.I95T Substitution - Missense 11:55265187-55265187 + TCGA-BG-A0MQ-01 COSM927945 c.574T>C p.Y192H Substitution - Missense 11:55268368-55268368 + PT37 COSM5920299 c.374G>A p.R125K Substitution - Missense 11:55265277-55265277 + LP6007398-DNA_A01 COSM5951775 c.380T>C p.L127P Substitution - Missense 11:55265235-55265235 + SJHGG045_A COSM4970883 c.450G>A p.E150E Substitution - coding silent 11:55265305-55265305 + sysucc-274T COSM3383545 c.578+6T>A p.? Unknown 11:55268378-55268378 + LUAD-NYU847 COSM376581 c.98G>A p.S33N Substitution - Missense 11:55265001-55265001 + sysucc-783T COSM3383546 c.530+6T>A p.? Unknown 11:55268378-55268378 + TCGA-G4-6320-01 COSM3687364 c.99C>A p.I33I Substitution - coding silent 11:55264954-55264954 + TCGA-EB-A5SE-01 COSM3448738 c.8C>T p.S3F Substitution - Missense 11:55264911-55264911 + TCGA-22-4595-01 COSM689029 c.85G>T p.D29Y Substitution - Missense 11:55264988-55264988 + sysucc-274T COSM3383547 c.578+7A>G p.? Unknown 11:55268379-55268379 + TCGA-AZ-4315-01 COSM1354378 c.43C>T p.R15* Substitution - Nonsense 11:55262310-55262310 + T3262 COSM927945 c.574T>C p.Y192H Substitution - Missense 11:55268368-55268368 + T3094 COSM927945 c.574T>C p.Y192H Substitution - Missense 11:55268368-55268368 + Pat_46_B COSM5838748 c.316G>A p.E106K Substitution - Missense 11:55265171-55265171 + TCGA-AB-2846-03 COSM1317306 c.83T>C p.I28T Substitution - Missense 11:55264986-55264986 + PT37 COSM4193975 c.531-8C>T p.? Unknown 11:55269234-55269234 + sysucc-1370T COSM927946 c.526T>C p.Y176H Substitution - Missense 11:55268368-55268368 + 587238 COSM927945 c.574T>C p.Y192H Substitution - Missense 11:55268368-55268368 + T3340 COSM927945 c.574T>C p.Y192H Substitution - Missense 11:55268368-55268368 + BN36T COSM1604672 c.249C>A p.N83K Substitution - Missense 11:55265104-55265104 + CSCC-4-T COSM4480330 c.240C>T p.L80L Substitution - coding silent 11:55265095-55265095 + sysucc-783T COSM3383545 c.578+6T>A p.? Unknown 11:55268378-55268378 + sysucc-882T COSM927945 c.574T>C p.Y192H Substitution - Missense 11:55268368-55268368 + B24 COSM1746304 c.533C>T p.T178I Substitution - Missense 11:55265673-55265673 + sysucc-274T COSM3383546 c.530+6T>A p.? Unknown 11:55268378-55268378 + 8016470 COSM927945 c.574T>C p.Y192H Substitution - Missense 11:55268368-55268368 + BN36 COSM1604673 c.201C>A p.N67K Substitution - Missense 11:55265104-55265104 + PT36 COSM5916129 c.263A>T p.K88M Substitution - Missense 11:55265118-55265118 + TCGA-FS-A1ZK-06 COSM3448753 c.622G>A p.A208T Substitution - Missense 11:55269285-55269285 + 587222 COSM1230349 c.8C>A p.S3Y Substitution - Missense 11:55264911-55264911 + TCGA-BS-A0UM-01 COSM927946 c.526T>C p.Y176H Substitution - Missense 11:55268368-55268368 + 8016470 COSM927946 c.526T>C p.Y176H Substitution - Missense 11:55268368-55268368 + C709 COSM927945 c.574T>C p.Y192H Substitution - Missense 11:55268368-55268368 + H2171 COSM316153 c.629G>T p.R210M Substitution - Missense 11:55269292-55269292 + 587386 COSM376581 c.98G>A p.S33N Substitution - Missense 11:55265001-55265001 + 2296_T COSM3953239 c.551A>T p.H184L Substitution - Missense 11:55269262-55269262 + TCGA-CD-8526-01 COSM4033573 c.653G>C p.R218T Substitution - Missense 11:55269316-55269316 + STC246 COSM927946 c.526T>C p.Y176H Substitution - Missense 11:55268368-55268368 + SNUH_G47_S1 COSM3676181 c.66G>T p.S22S Substitution - coding silent 11:55264921-55264921 + T3024 COSM927945 c.574T>C p.Y192H Substitution - Missense 11:55268368-55268368 + STC297 COSM927945 c.574T>C p.Y192H Substitution - Missense 11:55268368-55268368 + TCGA-BS-A0UA-01 COSM927946 c.526T>C p.Y176H Substitution - Missense 11:55268368-55268368 + B24-Tumor COSM1746305 c.485C>T p.T162I Substitution - Missense 11:55265673-55265673 + TCGA-EE-A183-06 COSM3448742 c.34G>A p.E12K Substitution - Missense 11:55264937-55264937 + PT35 COSM5913295 c.145C>T p.L49F Substitution - Missense 11:55265048-55265048 + T3118 COSM927946 c.526T>C p.Y176H Substitution - Missense 11:55268368-55268368 + BD72T COSM927946 c.526T>C p.Y176H Substitution - Missense 11:55268368-55268368 + TCGA-AB-2803-03 COSM1317304 c.485C>A p.T162N Substitution - Missense 11:55265673-55265673 + CSCC-27-T COSM4550650 c.505G>A p.E169K Substitution - Missense 11:55265645-55265645 + T276 COSM927945 c.574T>C p.Y192H Substitution - Missense 11:55268368-55268368 + TCGA-43-3920-01 COSM689026 c.274C>G p.L92V Substitution - Missense 11:55265129-55265129 + B86-Tumor COSM1746303 c.355C>G p.Q119E Substitution - Missense 11:55265258-55265258 + TCGA-AP-A0LM-01 COSM927936 c.171G>T p.K57N Substitution - Missense 11:55265074-55265074 + SNUH_G47_S1 COSM3676185 c.73T>C p.F25L Substitution - Missense 11:55264928-55264928 + TCGA-A5-A0GW-01 COSM927946 c.526T>C p.Y176H Substitution - Missense 11:55268368-55268368 + cSCCP5 COSM138000 c.185G>T p.R62I Substitution - Missense 11:55265088-55265088 + TCGA-BF-A3DM-01 COSM3869352 c.300A>G p.L100L Substitution - coding silent 11:55265155-55265155 + TCGA-BS-A0UM-01 COSM927945 c.574T>C p.Y192H Substitution - Missense 11:55268368-55268368 + sysucc-880T COSM927945 c.574T>C p.Y192H Substitution - Missense 11:55268368-55268368 + TCGA-63-6202-01 COSM689025 c.354T>A p.S118S Substitution - coding silent 11:55265257-55265257 + TCGA-AB-2846-03 COSM1317305 c.131T>C p.I44T Substitution - Missense 11:55264986-55264986 + sysucc-1397T COSM927946 c.526T>C p.Y176H Substitution - Missense 11:55268368-55268368 + sysucc-880T COSM3383547 c.578+7A>G p.? Unknown 11:55268379-55268379 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.195715 11q11

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C 3-UTRSNV . c.672+1317A>C 11 55038128 SCLC A C Missense p.K117T c.350A>C 11 55032681 ESCA A G 3-UTRSNV . c.672+1705A>G 11 55038516 HC AG GA 3-UTRBlockSubstitution . c.672+1393_672+1394delinsGA 11 55038204 CM A G Missense p.N16S c.47A>G 11 55032378 STAD A G Missense p.Q77R c.230A>G 11 55032561 ESCA A G Missense p.Y56C c.167A>G 11 55032498 HNSC A G SpliceAcceptorSNV . c.556-2A>G 11 55035824 LGG A G Synonymous p.E169E c.507A>G 11 55033123 CM A T Missense p.K95I c.284A>T 11 55032615 SCLC A T Missense p.L191F c.573A>T 11 55035843 HNSC A T Missense p.Q26L c.77A>T 11 55032408 LUSC A T Missense p.T30S c.88A>T 11 55032419 HNSC CA - IntronicDeletion . c.555+102_555+103delCA 11 55033273 CM C A IntronicSNV . c.556-598C>A 11 55035228 NSCLC C A IntronicSNV . c.672+17C>A 11 55036828 NSCLC C A Missense p.L65I c.193C>A 11 55032524 NB C A Missense p.N173K c.519C>A 11 55033135 SCLC C A Missense p.P144H c.431C>A 11 55032762 LUSC C A Missense p.P202T c.604C>A 11 55036743 LUAD C A Missense p.Q203K c.607C>A 11 55036746 STAD C A Missense p.T178N c.533C>A 11 55033149 AML C A Synonymous p.I62I c.186C>A 11 55032517 LUAD CC TA Missense p.P63* c.187_188delinsTA 11 55032518 CM CC TT 3-UTRBlockSubstitution . c.672+1529_672+1530delinsTT 11 55038340 CM C G Missense p.L92V c.274C>G 11 55032605 LUSC C T Missense p.P202L c.605C>T 11 55036744 BLCA C T Missense p.P204L c.611C>T 11 55036750 CM C T Missense p.S19F c.56C>T 11 55032387 HNSC G A Missense p.A208T c.622G>A 11 55036761 CM G A Missense p.C143Y c.428G>A 11 55032759 BRCA G A Missense p.E105K c.313G>A 11 55032644 HNSC G A Missense p.E28K c.82G>A 11 55032413 CM G A Missense p.G20E c.59G>A 11 55032390 CM G A Missense p.G20R c.58G>A 11 55032389 LUAD G A Missense p.G212E c.635G>A 11 55036774 LUAD G A Missense p.M17I c.51G>A 11 55032382 CM G A SpliceAcceptorSNV . c.556-1G>A 11 55035825 HNSC G A Synonymous p.K116K c.348G>A 11 55032679 CM G A Synonymous p.L217L c.651G>A 11 55036790 UCEC G C Missense p.G20R c.58G>C 11 55032389 LUSC G C Missense p.K185N c.555G>C 11 55033171 LUAD G T Missense p.C120F c.359G>T 11 55032690 LUAD G T Missense p.D45Y c.133G>T 11 55032464 LUSC G T Missense p.G47W c.139G>T 11 55032470 LUAD G T Missense p.K158N c.474G>T 11 55033090 UCEC G T Missense p.W184C c.552G>T 11 55033168 SCLC T A Missense p.L130Q c.389T>A 11 55032720 LUAD T A Missense p.W184R c.550T>A 11 55033166 SCLC T A Synonymous p.S134S c.402T>A 11 55032733 LUSC T C Missense p.S132P c.394T>C 11 55032725 ESCA T C Missense p.Y192H c.574T>C 11 55035844 STAD T C Missense p.Y192H c.574T>C 11 55035844 THCA T C Missense p.Y192H c.574T>C 11 55035844 UCEC T C Missense p.Y37H c.109T>C 11 55032440 STAD T C Synonymous p.S104S c.312T>C 11 55032643 UCEC