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 72533553 72533553 + Silent SNP G G T TCGA-K4-A54R-01A-11D-A26M-08 TCGA-K4-A54R-10A-01D-A26K-08 g.chr11:72533553G>T c.675G>T c.(673-675)ctG>ctT p.L225L BLCA 11 72536397 72536397 + Missense_Mutation SNP C C A TCGA-CF-A3MF-01A-12D-A21A-08 TCGA-CF-A3MF-10A-01D-A21A-08 g.chr11:72536397C>A c.1047C>A c.(1045-1047)agC>agA p.S349R BLCA 11 72537613 72537613 + Missense_Mutation SNP G G T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 g.chr11:72537613G>T c.1224G>T c.(1222-1224)aaG>aaT p.K408N BRCA 11 72525563 72525563 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 g.chr11:72525563C>T c.73C>T c.(73-75)Cgg>Tgg p.R25W BRCA 11 72533924 72533924 + Nonsense_Mutation SNP G G T TCGA-D8-A27V-01A-12D-A17D-09 TCGA-D8-A27V-10A-01D-A17D-09 g.chr11:72533924G>T c.742G>T c.(742-744)Gag>Tag p.E248* BRCA 11 72535783 72535785 + In_Frame_Del DEL AAG AAG - TCGA-A8-A09Z-01A-11W-A019-09 TCGA-A8-A09Z-10A-01W-A021-09 g.chr11:72535783_72535785delAAG c.892_894delAAG c.(892-894)aagdel p.K299del BRCA 11 72535862 72535862 + Missense_Mutation SNP T T C TCGA-AR-A0TY-01A-12W-A12T-09 TCGA-AR-A0TY-10A-01D-A110-09 g.chr11:72535862T>C c.971T>C c.(970-972)cTt>cCt p.L324P BRCA 11 72539521 72539521 + Missense_Mutation SNP C C G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 g.chr11:72539521C>G c.1590C>G c.(1588-1590)gaC>gaG p.D530E CESC 11 72533173 72533173 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chr11:72533173G>A c.477G>A c.(475-477)caG>caA p.Q159Q COAD 11 72538271 72538271 + Missense_Mutation SNP G G A TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr11:72538271G>A c.1405G>A c.(1405-1407)Gtg>Atg p.V469M COAD 11 72539930 72539930 + Missense_Mutation SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr11:72539930C>T c.1673C>T c.(1672-1674)cCg>cTg p.P558L COADREAD 11 72538271 72538271 + Missense_Mutation SNP G G A TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr11:72538271G>A c.1405G>A c.(1405-1407)Gtg>Atg p.V469M COADREAD 11 72539930 72539930 + Missense_Mutation SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr11:72539930C>T c.1673C>T c.(1672-1674)cCg>cTg p.P558L ESCA 11 72533895 72533895 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 g.chr11:72533895G>T c.713G>T c.(712-714)gGc>gTc p.G238V ESCA 11 72538335 72538335 + Missense_Mutation SNP G G T TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 g.chr11:72538335G>T c.1469G>T c.(1468-1470)aGc>aTc p.S490I GBM 11 72528883 72528883 + Missense_Mutation SNP C C T TCGA-06-5858-01A-01D-1696-08 TCGA-06-5858-10A-01D-1696-08 g.chr11:72528883C>T c.301C>T c.(301-303)Cgg>Tgg p.R101W GBMLGG 11 72528829 72528829 + Missense_Mutation SNP G G C TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 g.chr11:72528829G>C c.247G>C c.(247-249)Gtc>Ctc p.V83L GBMLGG 11 72528883 72528883 + Missense_Mutation SNP C C T TCGA-06-5858-01A-01D-1696-08 TCGA-06-5858-10A-01D-1696-08 g.chr11:72528883C>T c.301C>T c.(301-303)Cgg>Tgg p.R101W GBMLGG 11 72537750 72537750 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr11:72537750G>T c.1248G>T c.(1246-1248)gaG>gaT p.E416D LGG 11 72528829 72528829 + Missense_Mutation SNP G G C TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 g.chr11:72528829G>C c.247G>C c.(247-249)Gtc>Ctc p.V83L LGG 11 72537750 72537750 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr11:72537750G>T c.1248G>T c.(1246-1248)gaG>gaT p.E416D LIHC 11 72525573 72525573 + Missense_Mutation SNP C C A TCGA-DD-AACZ-01A-11D-A40R-10 TCGA-DD-AACZ-10A-01D-A40U-10 g.chr11:72525573C>A c.83C>A c.(82-84)aCg>aAg p.T28K LIHC 11 72538273 72538273 + Silent SNP G G T TCGA-UB-A7MB-01A-11D-A33Q-10 TCGA-UB-A7MB-10A-01D-A33Q-10 g.chr11:72538273G>T c.1407G>T c.(1405-1407)gtG>gtT p.V469V LUAD 11 72535842 72535843 + Frame_Shift_Del DEL TG TG - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr11:72535842_72535843delTG c.951_952delTG c.(949-954)cctgtgfs p.V318fs LUAD 11 72535874 72535874 + Missense_Mutation SNP C C T TCGA-44-3919-01A-02D-1458-08 TCGA-44-3919-10A-01D-1458-08 g.chr11:72535874C>T c.983C>T c.(982-984)gCt>gTt p.A328V LUAD 11 72540382 72540382 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 g.chr11:72540382G>C c.1807G>C c.(1807-1809)Ggg>Cgg p.G603R LUSC 11 72528819 72528819 + Missense_Mutation SNP C C A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 g.chr11:72528819C>A c.237C>A c.(235-237)gaC>gaA p.D79E LUSC 11 72536436 72536436 + Silent SNP C C G TCGA-66-2768-01A-01D-1522-08 TCGA-66-2768-11A-01D-1522-08 g.chr11:72536436C>G c.1086C>G c.(1084-1086)ctC>ctG p.L362L LUSC 11 72539536 72539536 + Missense_Mutation SNP C C G TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 g.chr11:72539536C>G c.1605C>G c.(1603-1605)aaC>aaG p.N535K LUSC 11 72539821 72539821 + Splice_Site SNP G G T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 g.chr11:72539821G>T c.1670G>T c.(1669-1671)aGc>aTc p.S557I OV 11 72527857 72527857 + Missense_Mutation SNP C C T TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 g.chr11:72527857C>T c.203C>T c.(202-204)aCc>aTc p.T68I PAAD 11 72528863 72528865 + In_Frame_Del DEL AGG AGG - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 g.chr11:72528863_72528865delAGG c.281_283delAGG c.(280-285)caggag>cag p.E98del PRAD 11 72528863 72528865 + In_Frame_Del DEL AGG AGG - TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-10A-01D-2115-08 g.chr11:72528863_72528865delAGG c.281_283delAGG c.(280-285)caggag>cag p.E98del SKCM 11 72535790 72535790 + Missense_Mutation SNP G G A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 g.chr11:72535790G>A c.899G>A c.(898-900)aGg>aAg p.R300K SKCM 11 72538327 72538327 + Silent SNP C C T TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr11:72538327C>T c.1461C>T c.(1459-1461)ttC>ttT p.F487F SKCM 11 72539442 72539442 + Missense_Mutation SNP G G A TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr11:72539442G>A c.1511G>A c.(1510-1512)cGg>cAg p.R504Q SKCM 11 72539461 72539461 + Silent SNP C C T TCGA-EE-A2GP-06A-11D-A197-08 TCGA-EE-A2GP-10A-01D-A199-08 g.chr11:72539461C>T c.1530C>T c.(1528-1530)ctC>ctT p.L510L

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 72554516 72554516 single base substitution C A 3_prime_UTR_variant BLCA-US 11 72536397 72536397 single base substitution C A 3_prime_UTR_variant BLCA-US 11 72536397 72536397 single base substitution C A downstream_gene_variant BLCA-US 11 72536397 72536397 single base substitution C A exon_variant BLCA-US 11 72536397 72536397 single base substitution C A intron_variant BLCA-US 11 72536397 72536397 single base substitution C A missense_variant S126R 378C>A BLCA-US 11 72536397 72536397 single base substitution C A missense_variant S180R 540C>A BLCA-US 11 72536397 72536397 single base substitution C A missense_variant S186R 558C>A BLCA-US 11 72536397 72536397 single base substitution C A missense_variant S349R 1047C>A BOCA-FR 11 72542712 72542712 single base substitution C T downstream_gene_variant BOCA-FR 11 72542712 72542712 single base substitution C T intron_variant BRCA-EU 11 72521702 72521702 single base substitution C T upstream_gene_variant BRCA-EU 11 72526724 72526724 single base substitution G C intron_variant BRCA-EU 11 72526724 72526724 single base substitution G C upstream_gene_variant BRCA-EU 11 72526980 72526980 single base substitution G A exon_variant BRCA-EU 11 72526980 72526980 single base substitution G A intron_variant BRCA-EU 11 72526980 72526980 single base substitution G A upstream_gene_variant BRCA-EU 11 72527623 72527623 single base substitution C G intron_variant BRCA-EU 11 72527623 72527623 single base substitution C G upstream_gene_variant BRCA-EU 11 72527953 72527953 single base substitution C T intron_variant BRCA-EU 11 72527953 72527953 single base substitution C T upstream_gene_variant BRCA-EU 11 72528054 72528054 single base substitution G A intron_variant BRCA-EU 11 72528054 72528054 single base substitution G A upstream_gene_variant BRCA-EU 11 72529538 72529538 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU 11 72529538 72529538 deletion of <=200bp T - downstream_gene_variant BRCA-EU 11 72529538 72529538 deletion of <=200bp T - intron_variant BRCA-EU 11 72529538 72529538 deletion of <=200bp T - upstream_gene_variant BRCA-EU 11 72529856 72529856 single base substitution G A 3_prime_UTR_variant BRCA-EU 11 72529856 72529856 single base substitution G A downstream_gene_variant BRCA-EU 11 72529856 72529856 single base substitution G A intron_variant BRCA-EU 11 72529856 72529856 single base substitution G A upstream_gene_variant BRCA-EU 11 72530070 72530070 single base substitution A G downstream_gene_variant BRCA-EU 11 72530070 72530070 single base substitution A G intron_variant BRCA-EU 11 72530070 72530070 single base substitution A G upstream_gene_variant BRCA-EU 11 72530303 72530303 single base substitution A C downstream_gene_variant BRCA-EU 11 72530303 72530303 single base substitution A C intron_variant BRCA-EU 11 72530303 72530303 single base substitution A C upstream_gene_variant BRCA-EU 11 72531645 72531645 single base substitution G T downstream_gene_variant BRCA-EU 11 72531645 72531645 single base substitution G T intron_variant BRCA-EU 11 72531645 72531645 single base substitution G T upstream_gene_variant BRCA-EU 11 72533781 72533781 single base substitution C T 3_prime_UTR_variant BRCA-EU 11 72533781 72533781 single base substitution C T downstream_gene_variant BRCA-EU 11 72533781 72533781 single base substitution C T exon_variant BRCA-EU 11 72533781 72533781 single base substitution C T intron_variant BRCA-EU 11 72533781 72533781 single base substitution C T upstream_gene_variant BRCA-EU 11 72534436 72534436 single base substitution G A 3_prime_UTR_variant BRCA-EU 11 72534436 72534436 single base substitution G A downstream_gene_variant BRCA-EU 11 72534436 72534436 single base substitution G A exon_variant BRCA-EU 11 72534436 72534436 single base substitution G A intron_variant BRCA-EU 11 72534436 72534436 single base substitution G A upstream_gene_variant BRCA-EU 11 72534790 72534790 single base substitution C T 3_prime_UTR_variant BRCA-EU 11 72534790 72534790 single base substitution C T downstream_gene_variant BRCA-EU 11 72534790 72534790 single base substitution C T exon_variant BRCA-EU 11 72534790 72534790 single base substitution C T intron_variant BRCA-EU 11 72534790 72534790 single base substitution C T upstream_gene_variant BRCA-EU 11 72535622 72535622 single base substitution C T downstream_gene_variant BRCA-EU 11 72535622 72535622 single base substitution C T exon_variant BRCA-EU 11 72535622 72535622 single base substitution C T intron_variant BRCA-EU 11 72536834 72536834 single base substitution G A downstream_gene_variant BRCA-EU 11 72536834 72536834 single base substitution G A intron_variant BRCA-EU 11 72536944 72536944 single base substitution C G downstream_gene_variant BRCA-EU 11 72536944 72536944 single base substitution C G intron_variant BRCA-EU 11 72537690 72537690 single base substitution G A downstream_gene_variant BRCA-EU 11 72537690 72537690 single base substitution G A exon_variant BRCA-EU 11 72537690 72537690 single base substitution G A intron_variant BRCA-EU 11 72538075 72538075 single base substitution G C downstream_gene_variant BRCA-EU 11 72538075 72538075 single base substitution G C exon_variant BRCA-EU 11 72538075 72538075 single base substitution G C intron_variant BRCA-EU 11 72538519 72538519 single base substitution C G downstream_gene_variant BRCA-EU 11 72538519 72538519 single base substitution C G intron_variant BRCA-EU 11 72539696 72539696 single base substitution G C downstream_gene_variant BRCA-EU 11 72539696 72539696 single base substitution G C exon_variant BRCA-EU 11 72539696 72539696 single base substitution G C intron_variant BRCA-EU 11 72541645 72541645 single base substitution G C downstream_gene_variant BRCA-EU 11 72541645 72541645 single base substitution G C intron_variant BRCA-EU 11 72542141 72542141 single base substitution G A downstream_gene_variant BRCA-EU 11 72542141 72542141 single base substitution G A intron_variant BRCA-EU 11 72542499 72542499 single base substitution G A downstream_gene_variant BRCA-EU 11 72542499 72542499 single base substitution G A intron_variant BRCA-EU 11 72544976 72544976 single base substitution A T downstream_gene_variant BRCA-EU 11 72544976 72544976 single base substitution A T intron_variant BRCA-EU 11 72544978 72544978 single base substitution T A downstream_gene_variant BRCA-EU 11 72544978 72544978 single base substitution T A intron_variant BRCA-EU 11 72544979 72544979 single base substitution T A downstream_gene_variant BRCA-EU 11 72544979 72544979 single base substitution T A intron_variant BRCA-EU 11 72545601 72545601 single base substitution A G downstream_gene_variant BRCA-EU 11 72545601 72545601 single base substitution A G intron_variant BRCA-EU 11 72546579 72546579 single base substitution G A intron_variant BRCA-EU 11 72546645 72546645 single base substitution C T intron_variant BRCA-EU 11 72547621 72547621 single base substitution A G intron_variant BRCA-EU 11 72549349 72549349 single base substitution C T intron_variant BRCA-EU 11 72549625 72549625 single base substitution G C intron_variant BRCA-EU 11 72550356 72550356 deletion of <=200bp A - intron_variant BRCA-EU 11 72551447 72551447 single base substitution G A intron_variant BRCA-EU 11 72551458 72551458 single base substitution G C intron_variant BRCA-EU 11 72551965 72551965 single base substitution G A intron_variant BRCA-EU 11 72552372 72552372 single base substitution G C intron_variant BRCA-EU 11 72552592 72552592 single base substitution G C intron_variant BRCA-EU 11 72553229 72553229 single base substitution C T intron_variant BRCA-EU 11 72554618 72554618 single base substitution G A 3_prime_UTR_variant BRCA-EU 11 72555600 72555600 single base substitution G A downstream_gene_variant BRCA-EU 11 72556667 72556667 single base substitution A C downstream_gene_variant BRCA-EU 11 72557588 72557588 single base substitution T A downstream_gene_variant BRCA-FR 11 72521702 72521702 single base substitution C T upstream_gene_variant BRCA-FR 11 72527623 72527623 single base substitution C G intron_variant BRCA-FR 11 72527623 72527623 single base substitution C G upstream_gene_variant BRCA-FR 11 72530303 72530303 single base substitution A C downstream_gene_variant BRCA-FR 11 72530303 72530303 single base substitution A C intron_variant BRCA-FR 11 72530303 72530303 single base substitution A C upstream_gene_variant BRCA-FR 11 72534436 72534436 single base substitution G A 3_prime_UTR_variant BRCA-FR 11 72534436 72534436 single base substitution G A downstream_gene_variant BRCA-FR 11 72534436 72534436 single base substitution G A exon_variant BRCA-FR 11 72534436 72534436 single base substitution G A intron_variant BRCA-FR 11 72534436 72534436 single base substitution G A upstream_gene_variant BRCA-FR 11 72536834 72536834 single base substitution G A downstream_gene_variant BRCA-FR 11 72536834 72536834 single base substitution G A intron_variant BRCA-FR 11 72538075 72538075 single base substitution G C downstream_gene_variant BRCA-FR 11 72538075 72538075 single base substitution G C exon_variant BRCA-FR 11 72538075 72538075 single base substitution G C intron_variant BRCA-UK 11 72526724 72526724 single base substitution G C intron_variant BRCA-UK 11 72526724 72526724 single base substitution G C upstream_gene_variant BRCA-UK 11 72531746 72531746 single base substitution G A downstream_gene_variant BRCA-UK 11 72531746 72531746 single base substitution G A intron_variant BRCA-UK 11 72531746 72531746 single base substitution G A upstream_gene_variant BRCA-UK 11 72537758 72537758 single base substitution C T 3_prime_UTR_variant BRCA-UK 11 72537758 72537758 single base substitution C T downstream_gene_variant BRCA-UK 11 72537758 72537758 single base substitution C T exon_variant BRCA-UK 11 72537758 72537758 single base substitution C T intron_variant BRCA-UK 11 72537758 72537758 single base substitution C T missense_variant S196F 587C>T BRCA-UK 11 72537758 72537758 single base substitution C T missense_variant S250F 749C>T BRCA-UK 11 72537758 72537758 single base substitution C T missense_variant S256F 767C>T BRCA-UK 11 72537758 72537758 single base substitution C T missense_variant S419F 1256C>T BRCA-UK 11 72557588 72557588 single base substitution T A downstream_gene_variant BRCA-US 11 72525563 72525563 single base substitution C T exon_variant BRCA-US 11 72525563 72525563 single base substitution C T missense_variant R25W 73C>T BRCA-US 11 72525563 72525563 single base substitution C T missense_variant R29W 85C>T BRCA-US 11 72525563 72525563 single base substitution C T upstream_gene_variant BRCA-US 11 72533924 72533924 single base substitution G T 3_prime_UTR_variant BRCA-US 11 72533924 72533924 single base substitution G T downstream_gene_variant BRCA-US 11 72533924 72533924 single base substitution G T exon_variant BRCA-US 11 72533924 72533924 single base substitution G T intron_variant BRCA-US 11 72533924 72533924 single base substitution G T stop_gained E248* 742G>T BRCA-US 11 72533924 72533924 single base substitution G T stop_gained E31* 91G>T BRCA-US 11 72533924 72533924 single base substitution G T stop_gained E46* 136G>T BRCA-US 11 72533924 72533924 single base substitution G T stop_gained E79* 235G>T BRCA-US 11 72533924 72533924 single base substitution G T stop_gained E85* 253G>T BRCA-US 11 72533924 72533924 single base substitution G T upstream_gene_variant BRCA-US 11 72535783 72535785 deletion of <=200bp AAG - 3_prime_UTR_variant BRCA-US 11 72535783 72535785 deletion of <=200bp AAG - downstream_gene_variant BRCA-US 11 72535783 72535785 deletion of <=200bp AAG - exon_variant BRCA-US 11 72535783 72535785 deletion of <=200bp AAG - inframe_deletion K129 BRCA-US 11 72535783 72535785 deletion of <=200bp AAG - inframe_deletion K135 BRCA-US 11 72535783 72535785 deletion of <=200bp AAG - inframe_deletion K298 BRCA-US 11 72535783 72535785 deletion of <=200bp AAG - inframe_deletion K75 BRCA-US 11 72535783 72535785 deletion of <=200bp AAG - intron_variant BRCA-US 11 72535862 72535862 single base substitution T C 3_prime_UTR_variant BRCA-US 11 72535862 72535862 single base substitution T C downstream_gene_variant BRCA-US 11 72535862 72535862 single base substitution T C exon_variant BRCA-US 11 72535862 72535862 single base substitution T C intron_variant BRCA-US 11 72535862 72535862 single base substitution T C missense_variant L101P 302T>C BRCA-US 11 72535862 72535862 single base substitution T C missense_variant L155P 464T>C BRCA-US 11 72535862 72535862 single base substitution T C missense_variant L161P 482T>C BRCA-US 11 72535862 72535862 single base substitution T C missense_variant L324P 971T>C BRCA-US 11 72539521 72539521 single base substitution C G 3_prime_UTR_variant BRCA-US 11 72539521 72539521 single base substitution C G downstream_gene_variant BRCA-US 11 72539521 72539521 single base substitution C G exon_variant BRCA-US 11 72539521 72539521 single base substitution C G missense_variant D307E 921C>G BRCA-US 11 72539521 72539521 single base substitution C G missense_variant D361E 1083C>G BRCA-US 11 72539521 72539521 single base substitution C G missense_variant D530E 1590C>G BRCA-US 11 72539521 72539521 single base substitution C G missense_variant D97E 291C>G BRCA-US 11 72539521 72539521 single base substitution C G missense_variant P146A 436C>G BRCA-US 11 72552500 72552500 single base substitution G A intron_variant BRCA-US 11 72554333 72554333 deletion of <=200bp T - 3_prime_UTR_variant BTCA-JP 11 72528843 72528843 single base substitution C T downstream_gene_variant BTCA-JP 11 72528843 72528843 single base substitution C T exon_variant BTCA-JP 11 72528843 72528843 single base substitution C T synonymous_variant V87V 261C>T BTCA-JP 11 72528843 72528843 single base substitution C T synonymous_variant V91V 273C>T BTCA-JP 11 72528843 72528843 single base substitution C T upstream_gene_variant BTCA-JP 11 72533140 72533140 single base substitution G T 3_prime_UTR_variant BTCA-JP 11 72533140 72533140 single base substitution G T downstream_gene_variant BTCA-JP 11 72533140 72533140 single base substitution G T exon_variant BTCA-JP 11 72533140 72533140 single base substitution G T intron_variant BTCA-JP 11 72533140 72533140 single base substitution G T missense_variant Q148H 444G>T BTCA-JP 11 72533140 72533140 single base substitution G T upstream_gene_variant BTCA-JP 11 72534760 72534760 single base substitution C G 3_prime_UTR_variant BTCA-JP 11 72534760 72534760 single base substitution C G downstream_gene_variant BTCA-JP 11 72534760 72534760 single base substitution C G exon_variant BTCA-JP 11 72534760 72534760 single base substitution C G intron_variant BTCA-JP 11 72534760 72534760 single base substitution C G upstream_gene_variant BTCA-JP 11 72549939 72549939 single base substitution G A intron_variant BTCA-JP 11 72554529 72554529 single base substitution C T 3_prime_UTR_variant CESC-US 11 72533173 72533173 single base substitution G A 3_prime_UTR_variant CESC-US 11 72533173 72533173 single base substitution G A downstream_gene_variant CESC-US 11 72533173 72533173 single base substitution G A exon_variant CESC-US 11 72533173 72533173 single base substitution G A intron_variant CESC-US 11 72533173 72533173 single base substitution G A synonymous_variant Q159Q 477G>A CESC-US 11 72533173 72533173 single base substitution G A upstream_gene_variant CESC-US 11 72551993 72551993 single base substitution G A intron_variant CESC-US 11 72553785 72553785 single base substitution C T 3_prime_UTR_variant CESC-US 11 72554398 72554398 single base substitution C T 3_prime_UTR_variant CLLE-ES 11 72554525 72554525 single base substitution A G 3_prime_UTR_variant COAD-US 11 72537846 72537846 single base substitution G A 3_prime_UTR_variant COAD-US 11 72537846 72537846 single base substitution G A downstream_gene_variant COAD-US 11 72537846 72537846 single base substitution G A exon_variant COAD-US 11 72537846 72537846 single base substitution G A intron_variant COAD-US 11 72537846 72537846 single base substitution G A synonymous_variant E225E 675G>A COAD-US 11 72537846 72537846 single base substitution G A synonymous_variant E279E 837G>A COAD-US 11 72537846 72537846 single base substitution G A synonymous_variant E285E 855G>A COAD-US 11 72537846 72537846 single base substitution G A synonymous_variant E448E 1344G>A COAD-US 11 72538271 72538271 single base substitution G A 3_prime_UTR_variant COAD-US 11 72538271 72538271 single base substitution G A downstream_gene_variant COAD-US 11 72538271 72538271 single base substitution G A exon_variant COAD-US 11 72538271 72538271 single base substitution G A intron_variant COAD-US 11 72538271 72538271 single base substitution G A missense_variant V246M 736G>A COAD-US 11 72538271 72538271 single base substitution G A missense_variant V300M 898G>A COAD-US 11 72538271 72538271 single base substitution G A missense_variant V306M 916G>A COAD-US 11 72538271 72538271 single base substitution G A missense_variant V469M 1405G>A COAD-US 11 72539402 72539402 insertion of <=200bp - G downstream_gene_variant COAD-US 11 72539402 72539402 insertion of <=200bp - G splice_acceptor_variant COAD-US 11 72552500 72552500 single base substitution G A intron_variant COAD-US 11 72554353 72554353 single base substitution T C 3_prime_UTR_variant COCA-CN 11 72528843 72528843 single base substitution C T downstream_gene_variant COCA-CN 11 72528843 72528843 single base substitution C T exon_variant COCA-CN 11 72528843 72528843 single base substitution C T synonymous_variant V87V 261C>T COCA-CN 11 72528843 72528843 single base substitution C T synonymous_variant V91V 273C>T COCA-CN 11 72528843 72528843 single base substitution C T upstream_gene_variant COCA-CN 11 72530227 72530227 single base substitution C T downstream_gene_variant COCA-CN 11 72530227 72530227 single base substitution C T intron_variant COCA-CN 11 72530227 72530227 single base substitution C T upstream_gene_variant COCA-CN 11 72537719 72537719 single base substitution C A downstream_gene_variant COCA-CN 11 72537719 72537719 single base substitution C A exon_variant COCA-CN 11 72537719 72537719 single base substitution C A intron_variant COCA-CN 11 72551797 72551797 single base substitution C A intron_variant COCA-CN 11 72552411 72552411 single base substitution C A intron_variant COCA-CN 11 72553607 72553607 single base substitution C A intron_variant ESAD-UK 11 72520377 72520377 single base substitution T A upstream_gene_variant ESAD-UK 11 72520378 72520378 single base substitution C A upstream_gene_variant ESAD-UK 11 72522200 72522200 single base substitution C T upstream_gene_variant ESAD-UK 11 72528770 72528770 single base substitution G C intron_variant ESAD-UK 11 72528770 72528770 single base substitution G C upstream_gene_variant ESAD-UK 11 72529170 72529170 single base substitution C T 3_prime_UTR_variant ESAD-UK 11 72529170 72529170 single base substitution C T downstream_gene_variant ESAD-UK 11 72529170 72529170 single base substitution C T intron_variant ESAD-UK 11 72529170 72529170 single base substitution C T upstream_gene_variant ESAD-UK 11 72529261 72529261 single base substitution A C 3_prime_UTR_variant ESAD-UK 11 72529261 72529261 single base substitution A C downstream_gene_variant ESAD-UK 11 72529261 72529261 single base substitution A C intron_variant ESAD-UK 11 72529261 72529261 single base substitution A C upstream_gene_variant ESAD-UK 11 72531104 72531104 single base substitution G T downstream_gene_variant ESAD-UK 11 72531104 72531104 single base substitution G T intron_variant ESAD-UK 11 72531104 72531104 single base substitution G T upstream_gene_variant ESAD-UK 11 72534519 72534519 single base substitution C T 3_prime_UTR_variant ESAD-UK 11 72534519 72534519 single base substitution C T downstream_gene_variant ESAD-UK 11 72534519 72534519 single base substitution C T exon_variant ESAD-UK 11 72534519 72534519 single base substitution C T intron_variant ESAD-UK 11 72534519 72534519 single base substitution C T upstream_gene_variant ESAD-UK 11 72535693 72535693 single base substitution A T downstream_gene_variant ESAD-UK 11 72535693 72535693 single base substitution A T exon_variant ESAD-UK 11 72535693 72535693 single base substitution A T intron_variant ESAD-UK 11 72535825 72535825 single base substitution C T 3_prime_UTR_variant ESAD-UK 11 72535825 72535825 single base substitution C T downstream_gene_variant ESAD-UK 11 72535825 72535825 single base substitution C T exon_variant ESAD-UK 11 72535825 72535825 single base substitution C T intron_variant ESAD-UK 11 72535825 72535825 single base substitution C T stop_gained R143* 427C>T ESAD-UK 11 72535825 72535825 single base substitution C T stop_gained R149* 445C>T ESAD-UK 11 72535825 72535825 single base substitution C T stop_gained R312* 934C>T ESAD-UK 11 72535825 72535825 single base substitution C T stop_gained R89* 265C>T ESAD-UK 11 72536751 72536751 single base substitution T A downstream_gene_variant ESAD-UK 11 72536751 72536751 single base substitution T A intron_variant ESAD-UK 11 72537081 72537081 single base substitution A T downstream_gene_variant ESAD-UK 11 72537081 72537081 single base substitution A T intron_variant ESAD-UK 11 72537497 72537497 single base substitution C A downstream_gene_variant ESAD-UK 11 72537497 72537497 single base substitution C A intron_variant ESAD-UK 11 72537876 72537876 single base substitution C T downstream_gene_variant ESAD-UK 11 72537876 72537876 single base substitution C T exon_variant ESAD-UK 11 72537876 72537876 single base substitution C T intron_variant ESAD-UK 11 72537876 72537876 single base substitution C T splice_region_variant ESAD-UK 11 72538795 72538795 single base substitution C G downstream_gene_variant ESAD-UK 11 72538795 72538795 single base substitution C G intron_variant ESAD-UK 11 72538984 72538984 single base substitution A C downstream_gene_variant ESAD-UK 11 72538984 72538984 single base substitution A C intron_variant ESAD-UK 11 72540663 72540663 insertion of <=200bp - A 3_prime_UTR_variant ESAD-UK 11 72540663 72540663 insertion of <=200bp - A downstream_gene_variant ESAD-UK 11 72540663 72540663 insertion of <=200bp - A exon_variant ESAD-UK 11 72540663 72540663 insertion of <=200bp - A intron_variant ESAD-UK 11 72541491 72541491 single base substitution C G downstream_gene_variant ESAD-UK 11 72541491 72541491 single base substitution C G intron_variant ESAD-UK 11 72541531 72541531 insertion of <=200bp - TTG downstream_gene_variant ESAD-UK 11 72541531 72541531 insertion of <=200bp - TTG intron_variant ESAD-UK 11 72544794 72544794 single base substitution C T downstream_gene_variant ESAD-UK 11 72544794 72544794 single base substitution C T intron_variant ESAD-UK 11 72544977 72544978 deletion of <=200bp AT - downstream_gene_variant ESAD-UK 11 72544977 72544978 deletion of <=200bp AT - intron_variant ESAD-UK 11 72545924 72545924 single base substitution C G intron_variant ESAD-UK 11 72545937 72545937 single base substitution C A intron_variant ESAD-UK 11 72548181 72548181 insertion of <=200bp - A intron_variant ESAD-UK 11 72549941 72549941 single base substitution A G intron_variant ESAD-UK 11 72552302 72552302 single base substitution C T intron_variant ESAD-UK 11 72552646 72552646 single base substitution G A intron_variant ESAD-UK 11 72555066 72555066 insertion of <=200bp - A downstream_gene_variant ESCA-CN 11 72536422 72536422 single base substitution C T 3_prime_UTR_variant ESCA-CN 11 72536422 72536422 single base substitution C T downstream_gene_variant ESCA-CN 11 72536422 72536422 single base substitution C T exon_variant ESCA-CN 11 72536422 72536422 single base substitution C T intron_variant ESCA-CN 11 72536422 72536422 single base substitution C T missense_variant R135C 403C>T ESCA-CN 11 72536422 72536422 single base substitution C T missense_variant R189C 565C>T ESCA-CN 11 72536422 72536422 single base substitution C T missense_variant R195C 583C>T ESCA-CN 11 72536422 72536422 single base substitution C T missense_variant R358C 1072C>T GBM-US 11 72528883 72528883 single base substitution C T downstream_gene_variant GBM-US 11 72528883 72528883 single base substitution C T exon_variant GBM-US 11 72528883 72528883 single base substitution C T missense_variant R101W 301C>T GBM-US 11 72528883 72528883 single base substitution C T missense_variant R105W 313C>T GBM-US 11 72528883 72528883 single base substitution C T upstream_gene_variant LAML-KR 11 72522297 72522297 single base substitution A C upstream_gene_variant LGG-US 11 72528829 72528829 single base substitution G C downstream_gene_variant LGG-US 11 72528829 72528829 single base substitution G C exon_variant LGG-US 11 72528829 72528829 single base substitution G C missense_variant V83L 247G>C LGG-US 11 72528829 72528829 single base substitution G C missense_variant V87L 259G>C LGG-US 11 72528829 72528829 single base substitution G C upstream_gene_variant LICA-FR 11 72558063 72558063 single base substitution G A downstream_gene_variant LIHC-US 11 72538273 72538273 single base substitution G T 3_prime_UTR_variant LIHC-US 11 72538273 72538273 single base substitution G T downstream_gene_variant LIHC-US 11 72538273 72538273 single base substitution G T exon_variant LIHC-US 11 72538273 72538273 single base substitution G T intron_variant LIHC-US 11 72538273 72538273 single base substitution G T synonymous_variant V246V 738G>T LIHC-US 11 72538273 72538273 single base substitution G T synonymous_variant V300V 900G>T LIHC-US 11 72538273 72538273 single base substitution G T synonymous_variant V306V 918G>T LIHC-US 11 72538273 72538273 single base substitution G T synonymous_variant V469V 1407G>T LINC-JP 11 72525644 72525644 single base substitution A T intron_variant LINC-JP 11 72525644 72525644 single base substitution A T upstream_gene_variant LINC-JP 11 72533198 72533198 single base substitution G T 3_prime_UTR_variant LINC-JP 11 72533198 72533198 single base substitution G T downstream_gene_variant LINC-JP 11 72533198 72533198 single base substitution G T exon_variant LINC-JP 11 72533198 72533198 single base substitution G T intron_variant LINC-JP 11 72533198 72533198 single base substitution G T stop_gained E168* 502G>T LINC-JP 11 72533198 72533198 single base substitution G T upstream_gene_variant LINC-JP 11 72533388 72533388 single base substitution A G downstream_gene_variant LINC-JP 11 72533388 72533388 single base substitution A G intron_variant LINC-JP 11 72533388 72533388 single base substitution A G synonymous_variant A1A 3A>G LINC-JP 11 72533388 72533388 single base substitution A G synonymous_variant A7A 21A>G LINC-JP 11 72533388 72533388 single base substitution A G upstream_gene_variant LINC-JP 11 72536449 72536449 single base substitution G T 3_prime_UTR_variant LINC-JP 11 72536449 72536449 single base substitution G T downstream_gene_variant LINC-JP 11 72536449 72536449 single base substitution G T exon_variant LINC-JP 11 72536449 72536449 single base substitution G T intron_variant LINC-JP 11 72536449 72536449 single base substitution G T stop_gained G144* 430G>T LINC-JP 11 72536449 72536449 single base substitution G T stop_gained G198* 592G>T LINC-JP 11 72536449 72536449 single base substitution G T stop_gained G204* 610G>T LINC-JP 11 72536449 72536449 single base substitution G T stop_gained G367* 1099G>T LINC-JP 11 72539425 72539425 single base substitution C T 3_prime_UTR_variant LINC-JP 11 72539425 72539425 single base substitution C T downstream_gene_variant LINC-JP 11 72539425 72539425 single base substitution C T exon_variant LINC-JP 11 72539425 72539425 single base substitution C T missense_variant H114Y 340C>T LINC-JP 11 72539425 72539425 single base substitution C T synonymous_variant V275V 825C>T LINC-JP 11 72539425 72539425 single base substitution C T synonymous_variant V329V 987C>T LINC-JP 11 72539425 72539425 single base substitution C T synonymous_variant V498V 1494C>T LINC-JP 11 72539425 72539425 single base substitution C T synonymous_variant V65V 195C>T LINC-JP 11 72541649 72541649 single base substitution G T downstream_gene_variant LINC-JP 11 72541649 72541649 single base substitution G T intron_variant LINC-JP 11 72544525 72544525 single base substitution G T downstream_gene_variant LINC-JP 11 72544525 72544525 single base substitution G T intron_variant LIRI-JP 11 72521105 72521105 single base substitution T C upstream_gene_variant LIRI-JP 11 72523349 72523349 single base substitution T A upstream_gene_variant LIRI-JP 11 72523481 72523481 single base substitution A T upstream_gene_variant LIRI-JP 11 72525679 72525679 single base substitution G A intron_variant LIRI-JP 11 72525679 72525679 single base substitution G A upstream_gene_variant LIRI-JP 11 72527065 72527065 single base substitution C T exon_variant LIRI-JP 11 72527065 72527065 single base substitution C T intron_variant LIRI-JP 11 72527065 72527065 single base substitution C T upstream_gene_variant LIRI-JP 11 72535193 72535193 single base substitution C T downstream_gene_variant LIRI-JP 11 72535193 72535193 single base substitution C T exon_variant LIRI-JP 11 72535193 72535193 single base substitution C T intron_variant LIRI-JP 11 72536066 72536066 single base substitution G C downstream_gene_variant LIRI-JP 11 72536066 72536066 single base substitution G C intron_variant LIRI-JP 11 72536329 72536329 single base substitution C T downstream_gene_variant LIRI-JP 11 72536329 72536329 single base substitution C T intron_variant LIRI-JP 11 72537477 72537478 deletion of <=200bp TG - downstream_gene_variant LIRI-JP 11 72537477 72537478 deletion of <=200bp TG - intron_variant LIRI-JP 11 72537740 72537740 single base substitution G C downstream_gene_variant LIRI-JP 11 72537740 72537740 single base substitution G C exon_variant LIRI-JP 11 72537740 72537740 single base substitution G C intron_variant LIRI-JP 11 72537740 72537740 single base substitution G C splice_region_variant LIRI-JP 11 72544069 72544069 single base substitution T C downstream_gene_variant LIRI-JP 11 72544069 72544069 single base substitution T C intron_variant LIRI-JP 11 72545163 72545163 single base substitution C G downstream_gene_variant LIRI-JP 11 72545163 72545163 single base substitution C G intron_variant LIRI-JP 11 72545875 72545875 single base substitution C G intron_variant LIRI-JP 11 72546292 72546292 single base substitution T C intron_variant LIRI-JP 11 72548752 72548773 deletion of <=200bp CATAGAAAGCTGGTTTCCTCCA - intron_variant LIRI-JP 11 72549756 72549756 single base substitution C T intron_variant LIRI-JP 11 72550915 72550915 single base substitution G A intron_variant LIRI-JP 11 72553276 72553276 single base substitution A C intron_variant LIRI-JP 11 72553649 72553649 single base substitution T C intron_variant LIRI-JP 11 72554062 72554062 single base substitution G A 3_prime_UTR_variant LUSC-KR 11 72521198 72521198 single base substitution C T upstream_gene_variant LUSC-KR 11 72524326 72524326 single base substitution G A upstream_gene_variant LUSC-KR 11 72526919 72526919 single base substitution G T intron_variant LUSC-KR 11 72526919 72526919 single base substitution G T upstream_gene_variant LUSC-KR 11 72541656 72541656 single base substitution A T downstream_gene_variant LUSC-KR 11 72541656 72541656 single base substitution A T intron_variant LUSC-KR 11 72547314 72547314 single base substitution A C intron_variant LUSC-KR 11 72552411 72552411 single base substitution C A intron_variant LUSC-US 11 72528819 72528819 single base substitution C A exon_variant LUSC-US 11 72528819 72528819 single base substitution C A missense_variant D79E 237C>A LUSC-US 11 72528819 72528819 single base substitution C A missense_variant D83E 249C>A LUSC-US 11 72528819 72528819 single base substitution C A upstream_gene_variant LUSC-US 11 72536436 72536436 single base substitution C G 3_prime_UTR_variant LUSC-US 11 72536436 72536436 single base substitution C G downstream_gene_variant LUSC-US 11 72536436 72536436 single base substitution C G exon_variant LUSC-US 11 72536436 72536436 single base substitution C G intron_variant LUSC-US 11 72536436 72536436 single base substitution C G synonymous_variant L139L 417C>G LUSC-US 11 72536436 72536436 single base substitution C G synonymous_variant L193L 579C>G LUSC-US 11 72536436 72536436 single base substitution C G synonymous_variant L199L 597C>G LUSC-US 11 72536436 72536436 single base substitution C G synonymous_variant L362L 1086C>G LUSC-US 11 72539536 72539536 single base substitution C G 3_prime_UTR_variant LUSC-US 11 72539536 72539536 single base substitution C G downstream_gene_variant LUSC-US 11 72539536 72539536 single base substitution C G exon_variant LUSC-US 11 72539536 72539536 single base substitution C G missense_variant H151D 451C>G LUSC-US 11 72539536 72539536 single base substitution C G missense_variant N312K 936C>G LUSC-US 11 72539536 72539536 single base substitution C G missense_variant N366K 1098C>G LUSC-US 11 72539536 72539536 single base substitution C G missense_variant N535K 1605C>G LUSC-US 11 72539821 72539821 single base substitution G T downstream_gene_variant LUSC-US 11 72539821 72539821 single base substitution G T missense_variant S334I 1001G>T LUSC-US 11 72539821 72539821 single base substitution G T missense_variant S388I 1163G>T LUSC-US 11 72539821 72539821 single base substitution G T missense_variant S557I 1670G>T LUSC-US 11 72539821 72539821 single base substitution G T splice_region_variant MALY-DE 11 72526587 72526587 single base substitution C T intron_variant MALY-DE 11 72526587 72526587 single base substitution C T upstream_gene_variant MALY-DE 11 72532201 72532201 single base substitution G A downstream_gene_variant MALY-DE 11 72532201 72532201 single base substitution G A intron_variant MALY-DE 11 72532201 72532201 single base substitution G A upstream_gene_variant MALY-DE 11 72533097 72533097 single base substitution C A 3_prime_UTR_variant MALY-DE 11 72533097 72533097 single base substitution C A downstream_gene_variant MALY-DE 11 72533097 72533097 single base substitution C A exon_variant MALY-DE 11 72533097 72533097 single base substitution C A intron_variant MALY-DE 11 72533097 72533097 single base substitution C A missense_variant A134D 401C>A MALY-DE 11 72533097 72533097 single base substitution C A upstream_gene_variant MALY-DE 11 72533717 72533717 single base substitution C G 3_prime_UTR_variant MALY-DE 11 72533717 72533717 single base substitution C G downstream_gene_variant MALY-DE 11 72533717 72533717 single base substitution C G exon_variant MALY-DE 11 72533717 72533717 single base substitution C G intron_variant MALY-DE 11 72533717 72533717 single base substitution C G upstream_gene_variant MALY-DE 11 72534530 72534530 single base substitution G A 3_prime_UTR_variant MALY-DE 11 72534530 72534530 single base substitution G A downstream_gene_variant MALY-DE 11 72534530 72534530 single base substitution G A exon_variant MALY-DE 11 72534530 72534530 single base substitution G A intron_variant MALY-DE 11 72534530 72534530 single base substitution G A upstream_gene_variant MALY-DE 11 72536022 72536022 single base substitution C T downstream_gene_variant MALY-DE 11 72536022 72536022 single base substitution C T intron_variant MALY-DE 11 72536880 72536880 single base substitution C G downstream_gene_variant MALY-DE 11 72536880 72536880 single base substitution C G intron_variant MALY-DE 11 72539525 72539525 single base substitution C T 3_prime_UTR_variant MALY-DE 11 72539525 72539525 single base substitution C T downstream_gene_variant MALY-DE 11 72539525 72539525 single base substitution C T exon_variant MALY-DE 11 72539525 72539525 single base substitution C T missense_variant A147V 440C>T MALY-DE 11 72539525 72539525 single base substitution C T missense_variant R309C 925C>T MALY-DE 11 72539525 72539525 single base substitution C T missense_variant R363C 1087C>T MALY-DE 11 72539525 72539525 single base substitution C T missense_variant R532C 1594C>T MALY-DE 11 72545409 72545409 single base substitution T C downstream_gene_variant MALY-DE 11 72545409 72545409 single base substitution T C intron_variant MALY-DE 11 72547149 72547149 single base substitution T C intron_variant MALY-DE 11 72553060 72553060 single base substitution G A intron_variant MELA-AU 11 72520957 72520957 single base substitution C G upstream_gene_variant MELA-AU 11 72521433 72521433 single base substitution A G upstream_gene_variant MELA-AU 11 72521663 72521663 single base substitution G A upstream_gene_variant MELA-AU 11 72521771 72521771 single base substitution G A upstream_gene_variant MELA-AU 11 72521966 72521966 single base substitution G A upstream_gene_variant MELA-AU 11 72522128 72522128 single base substitution C A upstream_gene_variant MELA-AU 11 72522486 72522486 single base substitution C G upstream_gene_variant MELA-AU 11 72523038 72523038 single base substitution G A upstream_gene_variant MELA-AU 11 72523353 72523353 single base substitution G A upstream_gene_variant MELA-AU 11 72523642 72523642 single base substitution G A upstream_gene_variant MELA-AU 11 72526317 72526317 single base substitution G A intron_variant MELA-AU 11 72526317 72526317 single base substitution G A upstream_gene_variant MELA-AU 11 72527447 72527447 single base substitution A C intron_variant MELA-AU 11 72527447 72527447 single base substitution A C upstream_gene_variant MELA-AU 11 72527486 72527486 single base substitution C T intron_variant MELA-AU 11 72527486 72527486 single base substitution C T upstream_gene_variant MELA-AU 11 72527549 72527550 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 11 72527549 72527550 multiple base substitution (>=2bp and <=200bp) AC TT upstream_gene_variant MELA-AU 11 72527600 72527600 single base substitution T G intron_variant MELA-AU 11 72527600 72527600 single base substitution T G upstream_gene_variant MELA-AU 11 72527890 72527890 single base substitution C T intron_variant MELA-AU 11 72528291 72528291 single base substitution T A intron_variant MELA-AU 11 72528291 72528291 single base substitution T A upstream_gene_variant MELA-AU 11 72528379 72528379 single base substitution C T intron_variant MELA-AU 11 72528379 72528379 single base substitution C T upstream_gene_variant MELA-AU 11 72528901 72528901 single base substitution G T downstream_gene_variant MELA-AU 11 72528901 72528901 single base substitution G T missense_variant V111L 331G>T MELA-AU 11 72528901 72528901 single base substitution G T splice_donor_variant MELA-AU 11 72528901 72528901 single base substitution G T upstream_gene_variant MELA-AU 11 72529848 72529848 single base substitution C T 3_prime_UTR_variant MELA-AU 11 72529848 72529848 single base substitution C T downstream_gene_variant MELA-AU 11 72529848 72529848 single base substitution C T intron_variant MELA-AU 11 72529848 72529848 single base substitution C T upstream_gene_variant MELA-AU 11 72529868 72529868 single base substitution C T 3_prime_UTR_variant MELA-AU 11 72529868 72529868 single base substitution C T downstream_gene_variant MELA-AU 11 72529868 72529868 single base substitution C T intron_variant MELA-AU 11 72529868 72529868 single base substitution C T upstream_gene_variant MELA-AU 11 72530799 72530799 single base substitution T A downstream_gene_variant MELA-AU 11 72530799 72530799 single base substitution T A intron_variant MELA-AU 11 72530799 72530799 single base substitution T A upstream_gene_variant MELA-AU 11 72532094 72532094 single base substitution C T downstream_gene_variant MELA-AU 11 72532094 72532094 single base substitution C T intron_variant MELA-AU 11 72532094 72532094 single base substitution C T upstream_gene_variant MELA-AU 11 72532147 72532147 single base substitution T G downstream_gene_variant MELA-AU 11 72532147 72532147 single base substitution T G intron_variant MELA-AU 11 72532147 72532147 single base substitution T G upstream_gene_variant MELA-AU 11 72532965 72532965 single base substitution C T downstream_gene_variant MELA-AU 11 72532965 72532965 single base substitution C T exon_variant MELA-AU 11 72532965 72532965 single base substitution C T intron_variant MELA-AU 11 72532965 72532965 single base substitution C T upstream_gene_variant MELA-AU 11 72534162 72534162 single base substitution C T 3_prime_UTR_variant MELA-AU 11 72534162 72534162 single base substitution C T downstream_gene_variant MELA-AU 11 72534162 72534162 single base substitution C T exon_variant MELA-AU 11 72534162 72534162 single base substitution C T intron_variant MELA-AU 11 72534162 72534162 single base substitution C T upstream_gene_variant MELA-AU 11 72534653 72534653 single base substitution G A 3_prime_UTR_variant MELA-AU 11 72534653 72534653 single base substitution G A downstream_gene_variant MELA-AU 11 72534653 72534653 single base substitution G A exon_variant MELA-AU 11 72534653 72534653 single base substitution G A intron_variant MELA-AU 11 72534653 72534653 single base substitution G A upstream_gene_variant MELA-AU 11 72534874 72534874 single base substitution C T downstream_gene_variant MELA-AU 11 72534874 72534874 single base substitution C T exon_variant MELA-AU 11 72534874 72534874 single base substitution C T intron_variant MELA-AU 11 72534874 72534874 single base substitution C T upstream_gene_variant MELA-AU 11 72535297 72535297 single base substitution C T downstream_gene_variant MELA-AU 11 72535297 72535297 single base substitution C T exon_variant MELA-AU 11 72535297 72535297 single base substitution C T intron_variant MELA-AU 11 72535861 72535861 single base substitution C T 3_prime_UTR_variant MELA-AU 11 72535861 72535861 single base substitution C T downstream_gene_variant MELA-AU 11 72535861 72535861 single base substitution C T exon_variant MELA-AU 11 72535861 72535861 single base substitution C T intron_variant MELA-AU 11 72535861 72535861 single base substitution C T missense_variant L101F 301C>T MELA-AU 11 72535861 72535861 single base substitution C T missense_variant L155F 463C>T MELA-AU 11 72535861 72535861 single base substitution C T missense_variant L161F 481C>T MELA-AU 11 72535861 72535861 single base substitution C T missense_variant L324F 970C>T MELA-AU 11 72535968 72535968 single base substitution T C downstream_gene_variant MELA-AU 11 72535968 72535968 single base substitution T C intron_variant MELA-AU 11 72536002 72536002 single base substitution C T downstream_gene_variant MELA-AU 11 72536002 72536002 single base substitution C T intron_variant MELA-AU 11 72536475 72536475 single base substitution C T downstream_gene_variant MELA-AU 11 72536475 72536475 single base substitution C T intron_variant MELA-AU 11 72536690 72536690 single base substitution G A downstream_gene_variant MELA-AU 11 72536690 72536690 single base substitution G A intron_variant MELA-AU 11 72536811 72536811 single base substitution G A downstream_gene_variant MELA-AU 11 72536811 72536811 single base substitution G A intron_variant MELA-AU 11 72537875 72537876 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 11 72537875 72537876 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 11 72537875 72537876 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 72537875 72537876 multiple base substitution (>=2bp and <=200bp) CC TT splice_region_variant MELA-AU 11 72538741 72538741 single base substitution T C downstream_gene_variant MELA-AU 11 72538741 72538741 single base substitution T C intron_variant MELA-AU 11 72540613 72540613 single base substitution T C 3_prime_UTR_variant MELA-AU 11 72540613 72540613 single base substitution T C downstream_gene_variant MELA-AU 11 72540613 72540613 single base substitution T C exon_variant MELA-AU 11 72540613 72540613 single base substitution T C intron_variant MELA-AU 11 72542473 72542473 single base substitution C T downstream_gene_variant MELA-AU 11 72542473 72542473 single base substitution C T intron_variant MELA-AU 11 72542566 72542566 single base substitution C T downstream_gene_variant MELA-AU 11 72542566 72542566 single base substitution C T intron_variant MELA-AU 11 72542663 72542663 single base substitution C T downstream_gene_variant MELA-AU 11 72542663 72542663 single base substitution C T intron_variant MELA-AU 11 72543601 72543601 single base substitution G A downstream_gene_variant MELA-AU 11 72543601 72543601 single base substitution G A intron_variant MELA-AU 11 72543752 72543753 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 11 72543752 72543753 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 72543946 72543950 deletion of <=200bp TCATA - downstream_gene_variant MELA-AU 11 72543946 72543950 deletion of <=200bp TCATA - intron_variant MELA-AU 11 72543953 72543953 single base substitution C T downstream_gene_variant MELA-AU 11 72543953 72543953 single base substitution C T intron_variant MELA-AU 11 72544882 72544882 single base substitution C T downstream_gene_variant MELA-AU 11 72544882 72544882 single base substitution C T intron_variant MELA-AU 11 72547349 72547349 single base substitution G A intron_variant MELA-AU 11 72547365 72547366 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 72549373 72549374 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 72551402 72551402 single base substitution C T intron_variant MELA-AU 11 72551513 72551513 single base substitution G A intron_variant MELA-AU 11 72551661 72551661 single base substitution C T intron_variant MELA-AU 11 72551678 72551678 single base substitution C T intron_variant MELA-AU 11 72552031 72552031 single base substitution T C intron_variant MELA-AU 11 72552071 72552071 single base substitution G A intron_variant MELA-AU 11 72552440 72552440 single base substitution G A intron_variant MELA-AU 11 72552520 72552520 single base substitution G A intron_variant MELA-AU 11 72552617 72552617 single base substitution G A intron_variant MELA-AU 11 72553793 72553793 single base substitution T G 3_prime_UTR_variant MELA-AU 11 72555484 72555484 single base substitution C T downstream_gene_variant MELA-AU 11 72556026 72556026 single base substitution C T downstream_gene_variant MELA-AU 11 72556982 72556982 single base substitution A G downstream_gene_variant MELA-AU 11 72557100 72557100 single base substitution G A downstream_gene_variant MELA-AU 11 72557357 72557357 single base substitution C G downstream_gene_variant MELA-AU 11 72557827 72557827 single base substitution C T downstream_gene_variant MELA-AU 11 72558551 72558551 single base substitution G A downstream_gene_variant MELA-AU 11 72559157 72559157 single base substitution C T downstream_gene_variant ORCA-IN 11 72541353 72541353 single base substitution C G downstream_gene_variant ORCA-IN 11 72541353 72541353 single base substitution C G intron_variant ORCA-IN 11 72551682 72551682 single base substitution G C intron_variant ORCA-IN 11 72553839 72553839 single base substitution C T 3_prime_UTR_variant OV-AU 11 72525183 72525183 single base substitution G A upstream_gene_variant OV-AU 11 72529953 72529953 single base substitution A G 3_prime_UTR_variant OV-AU 11 72529953 72529953 single base substitution A G downstream_gene_variant OV-AU 11 72529953 72529953 single base substitution A G intron_variant OV-AU 11 72529953 72529953 single base substitution A G upstream_gene_variant OV-AU 11 72546144 72546144 single base substitution A T intron_variant OV-AU 11 72548753 72548753 single base substitution A G intron_variant OV-AU 11 72552027 72552027 single base substitution C T intron_variant OV-AU 11 72552327 72552327 single base substitution G A intron_variant OV-AU 11 72557096 72557096 single base substitution A G downstream_gene_variant OV-US 11 72554254 72554254 single base substitution C T 3_prime_UTR_variant PACA-AU 11 72520971 72520977 deletion of <=200bp ACCAGCC - upstream_gene_variant PACA-AU 11 72522939 72522939 deletion of <=200bp C - upstream_gene_variant PACA-AU 11 72527969 72527969 single base substitution C T intron_variant PACA-AU 11 72527969 72527969 single base substitution C T upstream_gene_variant PACA-AU 11 72532392 72532392 single base substitution G A 3_prime_UTR_variant PACA-AU 11 72532392 72532392 single base substitution G A downstream_gene_variant PACA-AU 11 72532392 72532392 single base substitution G A intron_variant PACA-AU 11 72532392 72532392 single base substitution G A upstream_gene_variant PACA-AU 11 72533565 72533565 single base substitution C A 3_prime_UTR_variant PACA-AU 11 72533565 72533565 single base substitution C A downstream_gene_variant PACA-AU 11 72533565 72533565 single base substitution C A exon_variant PACA-AU 11 72533565 72533565 single base substitution C A intron_variant PACA-AU 11 72533565 72533565 single base substitution C A synonymous_variant A12A 36C>A PACA-AU 11 72533565 72533565 single base substitution C A synonymous_variant A229A 687C>A PACA-AU 11 72533565 72533565 single base substitution C A synonymous_variant A27A 81C>A PACA-AU 11 72533565 72533565 single base substitution C A synonymous_variant A60A 180C>A PACA-AU 11 72533565 72533565 single base substitution C A synonymous_variant A66A 198C>A PACA-AU 11 72533565 72533565 single base substitution C A upstream_gene_variant PACA-AU 11 72536897 72536897 single base substitution G A downstream_gene_variant PACA-AU 11 72536897 72536897 single base substitution G A intron_variant PACA-AU 11 72537244 72537244 single base substitution G A 3_prime_UTR_variant PACA-AU 11 72537244 72537244 single base substitution G A downstream_gene_variant PACA-AU 11 72537244 72537244 single base substitution G A exon_variant PACA-AU 11 72537244 72537244 single base substitution G A intron_variant PACA-AU 11 72537244 72537244 single base substitution G A missense_variant E154K 460G>A PACA-AU 11 72537244 72537244 single base substitution G A missense_variant E208K 622G>A PACA-AU 11 72537244 72537244 single base substitution G A missense_variant E214K 640G>A PACA-AU 11 72537244 72537244 single base substitution G A missense_variant E377K 1129G>A PACA-AU 11 72543943 72543943 single base substitution C T downstream_gene_variant PACA-AU 11 72543943 72543943 single base substitution C T intron_variant PACA-AU 11 72544376 72544376 single base substitution A G downstream_gene_variant PACA-AU 11 72544376 72544376 single base substitution A G intron_variant PACA-AU 11 72549568 72549568 single base substitution C T intron_variant PACA-AU 11 72556788 72556788 single base substitution C A downstream_gene_variant PACA-AU 11 72556854 72556854 single base substitution C T downstream_gene_variant PACA-CA 11 72525270 72525270 single base substitution C T upstream_gene_variant PACA-CA 11 72530194 72530194 single base substitution G A downstream_gene_variant PACA-CA 11 72530194 72530194 single base substitution G A intron_variant PACA-CA 11 72530194 72530194 single base substitution G A upstream_gene_variant PACA-CA 11 72534414 72534414 single base substitution G A 3_prime_UTR_variant PACA-CA 11 72534414 72534414 single base substitution G A downstream_gene_variant PACA-CA 11 72534414 72534414 single base substitution G A exon_variant PACA-CA 11 72534414 72534414 single base substitution G A intron_variant PACA-CA 11 72534414 72534414 single base substitution G A upstream_gene_variant PACA-CA 11 72535772 72535772 single base substitution A G downstream_gene_variant PACA-CA 11 72535772 72535772 single base substitution A G exon_variant PACA-CA 11 72535772 72535772 single base substitution A G intron_variant PACA-CA 11 72535772 72535772 single base substitution A G splice_region_variant PACA-CA 11 72541915 72541917 deletion of <=200bp TCC - downstream_gene_variant PACA-CA 11 72541915 72541917 deletion of <=200bp TCC - intron_variant PACA-CA 11 72547797 72547797 insertion of <=200bp - T intron_variant PACA-CA 11 72557434 72557434 single base substitution T G downstream_gene_variant PACA-CA 11 72558791 72558791 single base substitution G A downstream_gene_variant PAEN-AU 11 72557096 72557096 single base substitution A G downstream_gene_variant PBCA-DE 11 72520419 72520419 insertion of <=200bp - GTTCCT upstream_gene_variant PBCA-DE 11 72526542 72526542 insertion of <=200bp - C intron_variant PBCA-DE 11 72526542 72526542 insertion of <=200bp - C upstream_gene_variant PBCA-DE 11 72533002 72533002 single base substitution C T downstream_gene_variant PBCA-DE 11 72533002 72533002 single base substitution C T exon_variant PBCA-DE 11 72533002 72533002 single base substitution C T intron_variant PBCA-DE 11 72533002 72533002 single base substitution C T upstream_gene_variant PBCA-DE 11 72534961 72534961 single base substitution C T downstream_gene_variant PBCA-DE 11 72534961 72534961 single base substitution C T exon_variant PBCA-DE 11 72534961 72534961 single base substitution C T intron_variant PBCA-DE 11 72550581 72550581 single base substitution G A intron_variant PBCA-DE 11 72551640 72551643 deletion of <=200bp TTAA - intron_variant PRAD-CA 11 72521664 72521664 single base substitution G A upstream_gene_variant PRAD-CA 11 72523509 72523509 single base substitution A G upstream_gene_variant PRAD-CA 11 72533577 72533577 single base substitution G C 3_prime_UTR_variant PRAD-CA 11 72533577 72533577 single base substitution G C downstream_gene_variant PRAD-CA 11 72533577 72533577 single base substitution G C exon_variant PRAD-CA 11 72533577 72533577 single base substitution G C intron_variant PRAD-CA 11 72533577 72533577 single base substitution G C synonymous_variant V16V 48G>C PRAD-CA 11 72533577 72533577 single base substitution G C synonymous_variant V233V 699G>C PRAD-CA 11 72533577 72533577 single base substitution G C synonymous_variant V31V 93G>C PRAD-CA 11 72533577 72533577 single base substitution G C synonymous_variant V64V 192G>C PRAD-CA 11 72533577 72533577 single base substitution G C synonymous_variant V70V 210G>C PRAD-CA 11 72533577 72533577 single base substitution G C upstream_gene_variant PRAD-CA 11 72551589 72551589 single base substitution G A intron_variant PRAD-CA 11 72557415 72557415 single base substitution C T downstream_gene_variant PRAD-UK 11 72547798 72547798 insertion of <=200bp - T intron_variant PRAD-UK 11 72547806 72547806 insertion of <=200bp - T intron_variant PRAD-UK 11 72548078 72548078 single base substitution C A intron_variant PRAD-US 11 72528863 72528865 deletion of <=200bp AGG - downstream_gene_variant PRAD-US 11 72528863 72528865 deletion of <=200bp AGG - exon_variant PRAD-US 11 72528863 72528865 deletion of <=200bp AGG - inframe_deletion QE94Q PRAD-US 11 72528863 72528865 deletion of <=200bp AGG - inframe_deletion QE98Q PRAD-US 11 72528863 72528865 deletion of <=200bp AGG - upstream_gene_variant READ-US 11 72539459 72539459 single base substitution C A 3_prime_UTR_variant READ-US 11 72539459 72539459 single base substitution C A downstream_gene_variant READ-US 11 72539459 72539459 single base substitution C A exon_variant READ-US 11 72539459 72539459 single base substitution C A missense_variant L287I 859C>A READ-US 11 72539459 72539459 single base substitution C A missense_variant L341I 1021C>A READ-US 11 72539459 72539459 single base substitution C A missense_variant L510I 1528C>A READ-US 11 72539459 72539459 single base substitution C A missense_variant L77I 229C>A READ-US 11 72539459 72539459 single base substitution C A missense_variant P125H 374C>A RECA-EU 11 72532174 72532174 single base substitution C G downstream_gene_variant RECA-EU 11 72532174 72532174 single base substitution C G intron_variant RECA-EU 11 72532174 72532174 single base substitution C G upstream_gene_variant RECA-EU 11 72550308 72550308 single base substitution G C intron_variant RECA-EU 11 72554093 72554093 single base substitution C T 3_prime_UTR_variant SKCA-BR 11 72521397 72521397 single base substitution T G upstream_gene_variant SKCA-BR 11 72521480 72521480 single base substitution G A upstream_gene_variant SKCA-BR 11 72522146 72522146 single base substitution G A upstream_gene_variant SKCA-BR 11 72523225 72523225 single base substitution A G upstream_gene_variant SKCA-BR 11 72525147 72525147 single base substitution G C upstream_gene_variant SKCA-BR 11 72527037 72527037 single base substitution A G exon_variant SKCA-BR 11 72527037 72527037 single base substitution A G intron_variant SKCA-BR 11 72527037 72527037 single base substitution A G upstream_gene_variant SKCA-BR 11 72527180 72527180 single base substitution C T exon_variant SKCA-BR 11 72527180 72527180 single base substitution C T intron_variant SKCA-BR 11 72527180 72527180 single base substitution C T upstream_gene_variant SKCA-BR 11 72529358 72529358 single base substitution C A 3_prime_UTR_variant SKCA-BR 11 72529358 72529358 single base substitution C A downstream_gene_variant SKCA-BR 11 72529358 72529358 single base substitution C A intron_variant SKCA-BR 11 72529358 72529358 single base substitution C A upstream_gene_variant SKCA-BR 11 72529377 72529377 single base substitution C T 3_prime_UTR_variant SKCA-BR 11 72529377 72529377 single base substitution C T downstream_gene_variant SKCA-BR 11 72529377 72529377 single base substitution C T intron_variant SKCA-BR 11 72529377 72529377 single base substitution C T upstream_gene_variant SKCA-BR 11 72529587 72529587 single base substitution C T 3_prime_UTR_variant SKCA-BR 11 72529587 72529587 single base substitution C T downstream_gene_variant SKCA-BR 11 72529587 72529587 single base substitution C T intron_variant SKCA-BR 11 72529587 72529587 single base substitution C T upstream_gene_variant SKCA-BR 11 72529680 72529680 single base substitution C T 3_prime_UTR_variant SKCA-BR 11 72529680 72529680 single base substitution C T downstream_gene_variant SKCA-BR 11 72529680 72529680 single base substitution C T intron_variant SKCA-BR 11 72529680 72529680 single base substitution C T upstream_gene_variant SKCA-BR 11 72530719 72530719 single base substitution T C downstream_gene_variant SKCA-BR 11 72530719 72530719 single base substitution T C intron_variant SKCA-BR 11 72530719 72530719 single base substitution T C upstream_gene_variant SKCA-BR 11 72530732 72530732 single base substitution A C downstream_gene_variant SKCA-BR 11 72530732 72530732 single base substitution A C intron_variant SKCA-BR 11 72530732 72530732 single base substitution A C upstream_gene_variant SKCA-BR 11 72530905 72530905 single base substitution C T downstream_gene_variant SKCA-BR 11 72530905 72530905 single base substitution C T intron_variant SKCA-BR 11 72530905 72530905 single base substitution C T upstream_gene_variant SKCA-BR 11 72533319 72533319 single base substitution T C 3_prime_UTR_variant SKCA-BR 11 72533319 72533319 single base substitution T C downstream_gene_variant SKCA-BR 11 72533319 72533319 single base substitution T C exon_variant SKCA-BR 11 72533319 72533319 single base substitution T C intron_variant SKCA-BR 11 72533319 72533319 single base substitution T C missense_variant L208P 623T>C SKCA-BR 11 72533319 72533319 single base substitution T C upstream_gene_variant SKCA-BR 11 72533690 72533690 single base substitution C T 3_prime_UTR_variant SKCA-BR 11 72533690 72533690 single base substitution C T downstream_gene_variant SKCA-BR 11 72533690 72533690 single base substitution C T exon_variant SKCA-BR 11 72533690 72533690 single base substitution C T intron_variant SKCA-BR 11 72533690 72533690 single base substitution C T upstream_gene_variant SKCA-BR 11 72541450 72541450 single base substitution A C downstream_gene_variant SKCA-BR 11 72541450 72541450 single base substitution A C intron_variant SKCA-BR 11 72547034 72547034 single base substitution C T intron_variant SKCA-BR 11 72548858 72548858 single base substitution A C intron_variant SKCA-BR 11 72551216 72551216 single base substitution A C intron_variant SKCA-BR 11 72553494 72553494 single base substitution G A intron_variant SKCA-BR 11 72556502 72556507 deletion of <=200bp AAAAAC - downstream_gene_variant SKCA-BR 11 72556505 72556507 deletion of <=200bp AAC - downstream_gene_variant SKCA-BR 11 72557138 72557139 deletion of <=200bp TA - downstream_gene_variant SKCA-BR 11 72558180 72558180 single base substitution G A downstream_gene_variant SKCA-BR 11 72559005 72559005 single base substitution G A downstream_gene_variant SKCM-US 11 72535155 72535155 single base substitution A G 3_prime_UTR_variant SKCM-US 11 72535155 72535155 single base substitution A G downstream_gene_variant SKCM-US 11 72535155 72535155 single base substitution A G exon_variant SKCM-US 11 72535155 72535155 single base substitution A G intron_variant SKCM-US 11 72535155 72535155 single base substitution A G missense_variant K123R 368A>G SKCM-US 11 72535155 72535155 single base substitution A G missense_variant K129R 386A>G SKCM-US 11 72535155 72535155 single base substitution A G missense_variant K292R 875A>G SKCM-US 11 72535790 72535790 single base substitution G A 3_prime_UTR_variant SKCM-US 11 72535790 72535790 single base substitution G A downstream_gene_variant SKCM-US 11 72535790 72535790 single base substitution G A exon_variant SKCM-US 11 72535790 72535790 single base substitution G A intron_variant SKCM-US 11 72535790 72535790 single base substitution G A missense_variant R131K 392G>A SKCM-US 11 72535790 72535790 single base substitution G A missense_variant R137K 410G>A SKCM-US 11 72535790 72535790 single base substitution G A missense_variant R300K 899G>A SKCM-US 11 72535790 72535790 single base substitution G A missense_variant R77K 230G>A SKCM-US 11 72538327 72538327 single base substitution C T 3_prime_UTR_variant SKCM-US 11 72538327 72538327 single base substitution C T downstream_gene_variant SKCM-US 11 72538327 72538327 single base substitution C T exon_variant SKCM-US 11 72538327 72538327 single base substitution C T intron_variant SKCM-US 11 72538327 72538327 single base substitution C T synonymous_variant F264F 792C>T SKCM-US 11 72538327 72538327 single base substitution C T synonymous_variant F318F 954C>T SKCM-US 11 72538327 72538327 single base substitution C T synonymous_variant F487F 1461C>T SKCM-US 11 72539442 72539442 single base substitution G A 3_prime_UTR_variant SKCM-US 11 72539442 72539442 single base substitution G A downstream_gene_variant SKCM-US 11 72539442 72539442 single base substitution G A exon_variant SKCM-US 11 72539442 72539442 single base substitution G A missense_variant R281Q 842G>A SKCM-US 11 72539442 72539442 single base substitution G A missense_variant R335Q 1004G>A SKCM-US 11 72539442 72539442 single base substitution G A missense_variant R504Q 1511G>A SKCM-US 11 72539442 72539442 single base substitution G A missense_variant R71Q 212G>A SKCM-US 11 72539442 72539442 single base substitution G A synonymous_variant P119P 357G>A SKCM-US 11 72539461 72539461 single base substitution C T 3_prime_UTR_variant SKCM-US 11 72539461 72539461 single base substitution C T downstream_gene_variant SKCM-US 11 72539461 72539461 single base substitution C T exon_variant SKCM-US 11 72539461 72539461 single base substitution C T stop_gained Q126* 376C>T SKCM-US 11 72539461 72539461 single base substitution C T synonymous_variant L287L 861C>T SKCM-US 11 72539461 72539461 single base substitution C T synonymous_variant L341L 1023C>T SKCM-US 11 72539461 72539461 single base substitution C T synonymous_variant L510L 1530C>T SKCM-US 11 72539461 72539461 single base substitution C T synonymous_variant L77L 231C>T SKCM-US 11 72549866 72549866 single base substitution C T intron_variant SKCM-US 11 72551959 72551959 single base substitution C T intron_variant SKCM-US 11 72552619 72552619 single base substitution A G intron_variant STAD-US 11 72533143 72533143 single base substitution G A 3_prime_UTR_variant STAD-US 11 72533143 72533143 single base substitution G A downstream_gene_variant STAD-US 11 72533143 72533143 single base substitution G A exon_variant STAD-US 11 72533143 72533143 single base substitution G A intron_variant STAD-US 11 72533143 72533143 single base substitution G A synonymous_variant Q149Q 447G>A STAD-US 11 72533143 72533143 single base substitution G A upstream_gene_variant STAD-US 11 72535842 72535842 insertion of <=200bp - TG 3_prime_UTR_variant STAD-US 11 72535842 72535842 insertion of <=200bp - TG downstream_gene_variant STAD-US 11 72535842 72535842 insertion of <=200bp - TG exon_variant STAD-US 11 72535842 72535842 insertion of <=200bp - TG frameshift_variant P148P? STAD-US 11 72535842 72535842 insertion of <=200bp - TG frameshift_variant P154P? STAD-US 11 72535842 72535842 insertion of <=200bp - TG frameshift_variant P317P? STAD-US 11 72535842 72535842 insertion of <=200bp - TG frameshift_variant P94P? STAD-US 11 72535842 72535842 insertion of <=200bp - TG intron_variant STAD-US 11 72540364 72540364 single base substitution G A 3_prime_UTR_variant STAD-US 11 72540364 72540364 single base substitution G A downstream_gene_variant STAD-US 11 72540364 72540364 single base substitution G A exon_variant STAD-US 11 72540364 72540364 single base substitution G A intron_variant STAD-US 11 72540364 72540364 single base substitution G A missense_variant V374M 1120G>A STAD-US 11 72540364 72540364 single base substitution G A missense_variant V394M 1180G>A STAD-US 11 72540364 72540364 single base substitution G A missense_variant V428M 1282G>A STAD-US 11 72540364 72540364 single base substitution G A missense_variant V597M 1789G>A STAD-US 11 72540426 72540426 single base substitution C T 3_prime_UTR_variant STAD-US 11 72540426 72540426 single base substitution C T downstream_gene_variant STAD-US 11 72540426 72540426 single base substitution C T exon_variant STAD-US 11 72540426 72540426 single base substitution C T intron_variant STAD-US 11 72540426 72540426 single base substitution C T synonymous_variant L394L 1182C>T STAD-US 11 72540426 72540426 single base substitution C T synonymous_variant L414L 1242C>T STAD-US 11 72540426 72540426 single base substitution C T synonymous_variant L448L 1344C>T STAD-US 11 72540426 72540426 single base substitution C T synonymous_variant L617L 1851C>T STAD-US 11 72553748 72553748 single base substitution C T 3_prime_UTR_variant STAD-US 11 72553749 72553749 single base substitution G A 3_prime_UTR_variant STAD-US 11 72554356 72554356 single base substitution G A 3_prime_UTR_variant THCA-SA 11 72539540 72539540 single base substitution C T 3_prime_UTR_variant THCA-SA 11 72539540 72539540 single base substitution C T downstream_gene_variant THCA-SA 11 72539540 72539540 single base substitution C T exon_variant THCA-SA 11 72539540 72539540 single base substitution C T missense_variant P152L 455C>T THCA-SA 11 72539540 72539540 single base substitution C T missense_variant R314C 940C>T THCA-SA 11 72539540 72539540 single base substitution C T missense_variant R368C 1102C>T THCA-SA 11 72539540 72539540 single base substitution C T missense_variant R537C 1609C>T THCA-SA 11 72548453 72548453 single base substitution T C intron_variant THCA-US 11 72537766 72537766 single base substitution A G 3_prime_UTR_variant THCA-US 11 72537766 72537766 single base substitution A G downstream_gene_variant THCA-US 11 72537766 72537766 single base substitution A G exon_variant THCA-US 11 72537766 72537766 single base substitution A G intron_variant THCA-US 11 72537766 72537766 single base substitution A G missense_variant K199E 595A>G THCA-US 11 72537766 72537766 single base substitution A G missense_variant K253E 757A>G THCA-US 11 72537766 72537766 single base substitution A G missense_variant K259E 775A>G THCA-US 11 72537766 72537766 single base substitution A G missense_variant K422E 1264A>G UCEC-US 11 72535873 72535873 single base substitution G C 3_prime_UTR_variant UCEC-US 11 72535873 72535873 single base substitution G C downstream_gene_variant UCEC-US 11 72535873 72535873 single base substitution G C exon_variant UCEC-US 11 72535873 72535873 single base substitution G C intron_variant UCEC-US 11 72535873 72535873 single base substitution G C missense_variant A105P 313G>C UCEC-US 11 72535873 72535873 single base substitution G C missense_variant A159P 475G>C UCEC-US 11 72535873 72535873 single base substitution G C missense_variant A165P 493G>C UCEC-US 11 72535873 72535873 single base substitution G C missense_variant A328P 982G>C UCEC-US 11 72537220 72537220 single base substitution C T downstream_gene_variant UCEC-US 11 72537220 72537220 single base substitution C T intron_variant UCEC-US 11 72537220 72537220 single base substitution C T missense_variant R146C 436C>T UCEC-US 11 72537220 72537220 single base substitution C T missense_variant R200C 598C>T UCEC-US 11 72537220 72537220 single base substitution C T missense_variant R206C 616C>T UCEC-US 11 72537220 72537220 single base substitution C T missense_variant R369C 1105C>T UCEC-US 11 72537220 72537220 single base substitution C T splice_region_variant UCEC-US 11 72538271 72538271 single base substitution G A 3_prime_UTR_variant UCEC-US 11 72538271 72538271 single base substitution G A downstream_gene_variant UCEC-US 11 72538271 72538271 single base substitution G A exon_variant UCEC-US 11 72538271 72538271 single base substitution G A intron_variant UCEC-US 11 72538271 72538271 single base substitution G A missense_variant V246M 736G>A UCEC-US 11 72538271 72538271 single base substitution G A missense_variant V300M 898G>A UCEC-US 11 72538271 72538271 single base substitution G A missense_variant V306M 916G>A UCEC-US 11 72538271 72538271 single base substitution G A missense_variant V469M 1405G>A UCEC-US 11 72549849 72549849 single base substitution A T intron_variant UCEC-US 11 72552500 72552500 single base substitution G A intron_variant UCEC-US 11 72552537 72552537 single base substitution C A intron_variant UCEC-US 11 72553855 72553855 single base substitution C A 3_prime_UTR_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-60-2715-01 COSM690784 c.237C>A p.D79E Substitution - Missense 11:72817774-72817774 + ML_43_T_01 COSM5038155 c.623T>C p.L208P Substitution - Missense 11:72822274-72822274 + KYSE-450 COSM4439304 c.911C>G p.S304* Substitution - Nonsense 11:72824757-72824757 + TCGA-EE-A2GP-06 COSM3453124 c.1530C>T p.L510L Substitution - coding silent 11:72828416-72828416 + T613 COSM4663999 c.444G>A p.Q148Q Substitution - coding silent 11:72822095-72822095 + TCGA-D9-A6EA-06 COSM4398594 c.899G>A p.R300K Substitution - Missense 11:72824745-72824745 + CSCC-62-T COSM4464816 c.1353C>T p.L451L Substitution - coding silent 11:72826810-72826810 + A9 COSM5349728 c.675G>A p.L225L Substitution - coding silent 11:72822508-72822508 + TCGA-CM-6162-01 COSM3686040 c.1473-2_1473-1insG p.? Unknown 11:72828357-72828358 + TCGA-AM-5820-01 COSM3687627 c.1344G>A p.E448E Substitution - coding silent 11:72826801-72826801 + TCGA-B5-A0K3-01 COSM931755 c.982G>C p.A328P Substitution - Missense 11:72824828-72824828 + 3N28-VS-3T28 COSM4980347 c.172C>A p.Q58K Substitution - Missense 11:72816781-72816781 + 56 COSM5734987 c.473C>G p.A158G Substitution - Missense 11:72822124-72822124 + T578 COSM2016641 c.1299G>A p.T433T Substitution - coding silent 11:72826756-72826756 + 8065650 COSM3383813 c.1129G>A p.E377K Substitution - Missense 11:72826199-72826199 + TCGA-EI-6882-01 COSM3416225 c.1528C>A p.L510I Substitution - Missense 11:72828414-72828414 + 416 COSM4431432 c.1027C>T p.R343C Substitution - Missense 11:72825332-72825332 + BD57T COSM5510535 c.444G>T p.Q148H Substitution - Missense 11:72822095-72822095 + PD4120a COSM159244 c.1256C>T p.S419F Substitution - Missense 11:72826713-72826713 + HCC159T COSM3703678 c.502G>T p.E168* Substitution - Nonsense 11:72822153-72822153 + CPCG0189-F1 COSM4966760 c.699G>C p.V233V Substitution - coding silent 11:72822532-72822532 + TCGA-D8-A27V-01 COSM3810378 c.742G>T p.E248* Substitution - Nonsense 11:72822879-72822879 + LUAD-YINHD COSM348534 c.1012G>A p.E338K Substitution - Missense 11:72825317-72825317 + ESO-717 COSM1242017 c.1072C>T p.R358C Substitution - Missense 11:72825377-72825377 + Pat_24_B COSM1192739 c.281_283delAGG p.E98delE Deletion - In frame 11:72817818-72817820 + PDA_108 COSM5003720 c.5_6insG p.P4fs*38 Insertion - Frameshift 11:72814450-72814451 + HCC128 COSM1605199 c.1494C>T p.V498V Substitution - coding silent 11:72828380-72828380 + TCGA-A8-A09Z-01 COSM5831887 c.892_894delAAG p.K299delK Deletion - In frame 11:72824738-72824740 + LS411 COSM2016642 c.1325G>A p.R442H Substitution - Missense 11:72826782-72826782 + TCGA-B5-A0JZ-01 COSM931757 c.1355G>A p.G452D Substitution - Missense 11:72826812-72826812 + TCGA-UB-A7MB-01 COSM4932185 c.1407G>T p.V469V Substitution - coding silent 11:72827228-72827228 + 1517_PT COSM5753800 c.661G>A p.V221M Substitution - Missense 11:72822494-72822494 + TCGA-22-1016-01 COSM690781 c.1605C>G p.N535K Substitution - Missense 11:72828491-72828491 + sysucc-923T COSM5463901 c.261C>T p.V87V Substitution - coding silent 11:72817798-72817798 + PTC_252 COSM3720903 c.1609C>T p.R537C Substitution - Missense 11:72828495-72828495 + TCGA-A5-A0VP-01 COSM931756 c.1105C>T p.R369C Substitution - Missense 11:72826175-72826175 + TCGA-42-2587-01 COSM1322185 c.203C>T p.T68I Substitution - Missense 11:72816812-72816812 + TCGA-D9-A6EC-06 COSM4405576 c.1461C>T p.F487F Substitution - coding silent 11:72827282-72827282 + ESCC_16 COSM5625740 c.1685A>G p.Y562C Substitution - Missense 11:72828897-72828897 + T3090 COSM4664001 c.1774G>A p.A592T Substitution - Missense 11:72829304-72829304 + 8066037 COSM4387739 c.687C>A p.A229A Substitution - coding silent 11:72822520-72822520 + PCSI_0083_Pa_P_526 COSM3788053 c.888-7A>G p.? Unknown 11:72824727-72824727 + PDA_104 COSM5003720 c.5_6insG p.P4fs*38 Insertion - Frameshift 11:72814450-72814451 + TCGA-EM-A1CW-01 COSM3368555 c.1264A>G p.K422E Substitution - Missense 11:72826721-72826721 + PT20_2 COSM5900775 c.974C>T p.P325L Substitution - Missense 11:72824820-72824820 + HCC159 COSM3703678 c.502G>T p.E168* Substitution - Nonsense 11:72822153-72822153 + KM12 COSM2016645 c.1499C>A p.P500H Substitution - Missense 11:72828385-72828385 + TCGA-HU-A4GQ-01 COSM2016652 c.1789G>A p.V597M Substitution - Missense 11:72829319-72829319 + TCGA-EE-A2GO-06 COSM2016646 c.1511G>A p.R504Q Substitution - Missense 11:72828397-72828397 + YUHEF COSM1704366 c.1374G>T p.R458S Substitution - Missense 11:72827195-72827195 + HCT15 COSM1676283 c.967C>T p.R323* Substitution - Nonsense 11:72824813-72824813 + TCGA-CG-4444-01 COSM4036554 c.447G>A p.Q149Q Substitution - coding silent 11:72822098-72822098 + 331 COSM3720903 c.1609C>T p.R537C Substitution - Missense 11:72828495-72828495 + 234 COSM3730636 c.1622+5C>T p.? Unknown 11:72828513-72828513 + TCGA-BH-A0B6-01 COSM3810377 c.73C>T p.R25W Substitution - Missense 11:72814518-72814518 + BHY COSM4592483 c.658C>T p.R220W Substitution - Missense 11:72822491-72822491 + pfg181T COSM4757323 c.1595G>A p.R532H Substitution - Missense 11:72828481-72828481 + T2197 COSM4664002 c.1825G>A p.V609M Substitution - Missense 11:72829355-72829355 + Pat_53_B COSM5839561 c.1517C>T p.T506I Substitution - Missense 11:72828403-72828403 + HT115 COSM2016650 c.1666T>C p.F556L Substitution - Missense 11:72828772-72828772 + TCGA-F4-6856-01 COSM931758 c.1405G>A p.V469M Substitution - Missense 11:72827226-72827226 + TCGA-BR-8361-01 COSM4036555 c.1851C>T p.L617L Substitution - coding silent 11:72829381-72829381 + TCGA-37-3789-01 COSM690780 c.1670G>T p.S557I Substitution - Missense 11:72828776-72828776 + TCGA-06-5858-01 COSM3398120 c.301C>T p.R101W Substitution - Missense 11:72817838-72817838 + CSCC-44-T COSM4480225 c.239C>T p.S80L Substitution - Missense 11:72817776-72817776 + LUAD-NYU259 COSM371703 c.1457G>A p.R486Q Substitution - Missense 11:72827278-72827278 + HCT-15 COSM1676283 c.967C>T p.R323* Substitution - Nonsense 11:72824813-72824813 + TCGA-66-2768-01 COSM690783 c.1086C>G p.L362L Substitution - coding silent 11:72825391-72825391 + CAL27 COSM4593745 c.763C>A p.L255M Substitution - Missense 11:72822900-72822900 + TCGA-DR-A0ZM-01 COSM458398 c.477G>A p.Q159Q Substitution - coding silent 11:72822128-72822128 + Pat_70_B COSM1192739 c.281_283delAGG p.E98delE Deletion - In frame 11:72817818-72817820 + HCC56T COSM1605198 c.1099G>T p.G367* Substitution - Nonsense 11:72825404-72825404 + 2290929 COSM4440274 c.1073G>A p.R358H Substitution - Missense 11:72825378-72825378 + HCT15 COSM2016640 c.1263C>T p.H421H Substitution - coding silent 11:72826720-72826720 + HCC56 COSM1605198 c.1099G>T p.G367* Substitution - Nonsense 11:72825404-72825404 + TCGA-D1-A103-01 COSM931758 c.1405G>A p.V469M Substitution - Missense 11:72827226-72827226 + TCGA-CF-A3MF-01 COSM1298589 c.1047C>A p.S349R Substitution - Missense 11:72825352-72825352 + HCC128T COSM1605199 c.1494C>T p.V498V Substitution - coding silent 11:72828380-72828380 + TCGA-EB-A41B-01 COSM3453123 c.875A>G p.K292R Substitution - Missense 11:72824110-72824110 + Pat_14_A COSM1192739 c.281_283delAGG p.E98delE Deletion - In frame 11:72817818-72817820 + 61 COSM5739371 c.848C>T p.T283M Substitution - Missense 11:72824083-72824083 + TCGA-AN-A0AK-01 COSM3810379 c.1590C>G p.D530E Substitution - Missense 11:72828476-72828476 + TCGA-AR-A0TY-01 COSM429813 c.971T>C p.L324P Substitution - Missense 11:72824817-72824817 + T3024 COSM4664000 c.1473-1delG p.? Unknown 11:72828358-72828358 + TCGA-DU-8158-01 COSM3967826 c.247G>C p.V83L Substitution - Missense 11:72817784-72817784 + C467 COSM4441936 c.958G>T p.V320L Substitution - Missense 11:72824804-72824804 + ESCC_BICR_054T COSM1242017 c.1072C>T p.R358C Substitution - Missense 11:72825377-72825377 + RK285_C01 COSM4779018 c.1246-8G>C p.? Unknown 11:72826695-72826695 + ESO-1488 COSM1245637 c.1590C>T p.D530D Substitution - coding silent 11:72828476-72828476 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.653186 11q13.4

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer AGG - InFrameDeletion p.E98delE c.293_295delAGG 11 72528863 PRAD A G Missense p.K230E c.688A>G 11 72533566 CM A G Missense p.K422E c.1264A>G 11 72537766 THCA A G Missense p.Y313C c.938A>G 11 72535829 STAD C A Missense p.D79E c.237C>A 11 72528819 LUSC C A Missense p.S349R c.1047C>A 11 72536397 BLCA C G Missense p.N535K c.1605C>G 11 72539536 LUSC C G Synonymous p.L362L c.1086C>G 11 72536436 LUSC C T IntronicSNV . c.825-183C>T 11 72534922 MM C T Missense p.A328V c.983C>T 11 72535874 LUAD C T Missense p.R369C c.1105C>T 11 72537220 UCEC C T Missense p.R453C c.1357C>T 11 72537859 BRCA C T Missense p.S419F c.1256C>T 11 72537758 BRCA C T Synonymous p.D530D c.1590C>T 11 72539521 ESCA C T Synonymous p.L510L c.1530C>T 11 72539461 CM G A 3-UTRSNV . c.1857+24G>A 11 72540456 ESCA G A IntronicSNV . c.1623-101G>A 11 72539673 CM G A Missense p.R504Q c.1511G>A 11 72539442 CM G A Synonymous p.Q149Q c.447G>A 11 72533143 STAD G C Missense p.A328P c.982G>C 11 72535873 UCEC G C Missense p.V83L c.247G>C 11 72528829 LGG G T Missense p.S557I c.1670G>T 11 72539821 LUSC T C IntronicSNV . c.825-123T>C 11 72534982 ESCA T C Missense p.L324P c.971T>C 11 72535862 BRCA - TCTA 3-UTRInsertion . c.1857+201_1857+202insTCTA 11 72540633 CM