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 71668300 71668300 + Missense_Mutation SNP G G A TCGA-XF-AAN0-01A-11D-A42E-08 TCGA-XF-AAN0-10A-01D-A42H-08 g.chr11:71668300G>A c.91G>A c.(91-93)Gag>Aag p.E31K BLCA 11 71668300 71668300 + Missense_Mutation SNP G G C TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 g.chr11:71668300G>C c.91G>C c.(91-93)Gag>Cag p.E31Q BLCA 11 71698077 71698077 + Silent SNP C C T TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 g.chr11:71698077C>T c.426C>T c.(424-426)atC>atT p.I142I BLCA 11 71698134 71698134 + Silent SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 g.chr11:71698134C>T c.483C>T c.(481-483)ctC>ctT p.L161L BLCA 11 71705855 71705855 + Missense_Mutation SNP G G A TCGA-G2-AA3D-01A-11D-A391-08 TCGA-G2-AA3D-10A-01D-A394-08 g.chr11:71705855G>A c.718G>A c.(718-720)Gag>Aag p.E240K BLCA 11 71707249 71707249 + Missense_Mutation SNP G G A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 g.chr11:71707249G>A c.872G>A c.(871-873)aGg>aAg p.R291K BRCA 11 71706538 71706538 + Missense_Mutation SNP G G C TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 g.chr11:71706538G>C c.804G>C c.(802-804)aaG>aaC p.K268N CESC 11 71705867 71705867 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 g.chr11:71705867G>C c.730G>C c.(730-732)Gag>Cag p.E244Q COAD 11 71671827 71671827 + Missense_Mutation SNP C C A TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr11:71671827C>A c.133C>A c.(133-135)Cgt>Agt p.R45S COAD 11 71671827 71671827 + Missense_Mutation SNP C C T TCGA-AA-3833-01A-01W-0900-09 TCGA-AA-3833-10A-01W-0900-09 g.chr11:71671827C>T c.133C>T c.(133-135)Cgt>Tgt p.R45C COAD 11 71701646 71701646 + Silent SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr11:71701646C>A c.510C>A c.(508-510)atC>atA p.I170I COADREAD 11 71671827 71671827 + Missense_Mutation SNP C C A TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr11:71671827C>A c.133C>A c.(133-135)Cgt>Agt p.R45S COADREAD 11 71671827 71671827 + Missense_Mutation SNP C C T TCGA-AA-3833-01A-01W-0900-09 TCGA-AA-3833-10A-01W-0900-09 g.chr11:71671827C>T c.133C>T c.(133-135)Cgt>Tgt p.R45C COADREAD 11 71701646 71701646 + Silent SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr11:71701646C>A c.510C>A c.(508-510)atC>atA p.I170I ESCA 11 71705781 71705781 + Missense_Mutation SNP G G A TCGA-2H-A9GJ-01A-11D-A37C-09 TCGA-2H-A9GJ-11A-11D-A37F-09 g.chr11:71705781G>A c.644G>A c.(643-645)gGc>gAc p.G215D GBMLGG 11 71671806 71671806 + Missense_Mutation SNP G G A TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 g.chr11:71671806G>A c.112G>A c.(112-114)Gca>Aca p.A38T GBMLGG 11 71671880 71671880 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr11:71671880G>A c.186G>A c.(184-186)ttG>ttA p.L62L GBMLGG 11 71705781 71705781 + Missense_Mutation SNP G G A TCGA-DH-A66D-01A-11D-A31L-08 TCGA-DH-A66D-10A-01D-A31J-08 g.chr11:71705781G>A c.644G>A c.(643-645)gGc>gAc p.G215D HNSC 11 71668297 71668297 + Missense_Mutation SNP G G C TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 g.chr11:71668297G>C c.88G>C c.(88-90)Gaa>Caa p.E30Q HNSC 11 71698079 71698079 + Missense_Mutation SNP A A G TCGA-CV-A461-01A-41D-A25Y-08 TCGA-CV-A461-10A-01D-A25Y-08 g.chr11:71698079A>G c.428A>G c.(427-429)tAt>tGt p.Y143C HNSC 11 71705773 71705773 + Silent SNP C C T TCGA-F7-A623-01A-11D-A28R-08 TCGA-F7-A623-10A-01D-A28U-08 g.chr11:71705773C>T c.636C>T c.(634-636)agC>agT p.S212S KIPAN 11 71707272 71707272 + Missense_Mutation SNP C C A TCGA-CJ-5672-01A-11D-1534-10 TCGA-CJ-5672-11A-01D-1534-10 g.chr11:71707272C>A c.895C>A c.(895-897)Ctg>Atg p.L299M KIRC 11 71707272 71707272 + Missense_Mutation SNP C C A TCGA-CJ-5672-01A-11D-1534-10 TCGA-CJ-5672-11A-01D-1534-10 g.chr11:71707272C>A c.895C>A c.(895-897)Ctg>Atg p.L299M LGG 11 71671806 71671806 + Missense_Mutation SNP G G A TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 g.chr11:71671806G>A c.112G>A c.(112-114)Gca>Aca p.A38T LGG 11 71671880 71671880 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr11:71671880G>A c.186G>A c.(184-186)ttG>ttA p.L62L LGG 11 71705781 71705781 + Missense_Mutation SNP G G A TCGA-DH-A66D-01A-11D-A31L-08 TCGA-DH-A66D-10A-01D-A31J-08 g.chr11:71705781G>A c.644G>A c.(643-645)gGc>gAc p.G215D LIHC 11 71640151 71640151 + Missense_Mutation SNP G G A TCGA-UB-AA0U-01A-11D-A382-10 TCGA-UB-AA0U-10A-01D-A385-10 g.chr11:71640151G>A c.44G>A c.(43-45)gGg>gAg p.G15E LIHC 11 71671841 71671841 + Silent SNP T T C TCGA-DD-A39Y-01A-11D-A20W-10 TCGA-DD-A39Y-11A-11D-A20W-10 g.chr11:71671841T>C c.147T>C c.(145-147)gcT>gcC p.A49A LUAD 11 71668281 71668281 + Missense_Mutation SNP G G A TCGA-55-8203-01A-11D-2238-08 TCGA-55-8203-10A-01D-2238-08 g.chr11:71668281G>A c.72G>A c.(70-72)atG>atA p.M24I LUAD 11 71693869 71693869 + Missense_Mutation SNP G G T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 g.chr11:71693869G>T c.306G>T c.(304-306)tgG>tgT p.W102C LUAD 11 71701662 71701662 + Missense_Mutation SNP A A G TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 g.chr11:71701662A>G c.526A>G c.(526-528)Atg>Gtg p.M176V LUSC 11 71668300 71668300 + Missense_Mutation SNP G G C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 g.chr11:71668300G>C c.91G>C c.(91-93)Gag>Cag p.E31Q LUSC 11 71706589 71706589 + Silent SNP C C T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 g.chr11:71706589C>T c.855C>T c.(853-855)ttC>ttT p.F285F OV 11 71693956 71693956 + Silent SNP C C G TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 g.chr11:71693956C>G c.393C>G c.(391-393)acC>acG p.T131T PRAD 11 71671926 71671926 + Missense_Mutation SNP C C T TCGA-KK-A59Y-01A-11D-A26M-08 TCGA-KK-A59Y-11A-11D-A26K-08 g.chr11:71671926C>T c.232C>T c.(232-234)Cgc>Tgc p.R78C SKCM 11 71671826 71671826 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 g.chr11:71671826C>T c.132C>T c.(130-132)caC>caT p.H44H SKCM 11 71693837 71693837 + Missense_Mutation SNP C C T TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr11:71693837C>T c.274C>T c.(274-276)Ccc>Tcc p.P92S

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 71707375 71707375 single base substitution C T 3_prime_UTR_variant BLCA-CN 11 71707375 71707375 single base substitution C T downstream_gene_variant BLCA-CN 11 71707375 71707375 single base substitution C T exon_variant BLCA-CN 11 71712838 71712838 single base substitution G A downstream_gene_variant BLCA-US 11 71668300 71668300 single base substitution G C exon_variant BLCA-US 11 71668300 71668300 single base substitution G C intron_variant BLCA-US 11 71668300 71668300 single base substitution G C missense_variant E31Q 91G>C BLCA-US 11 71698134 71698134 single base substitution C T 3_prime_UTR_variant BLCA-US 11 71698134 71698134 single base substitution C T downstream_gene_variant BLCA-US 11 71698134 71698134 single base substitution C T exon_variant BLCA-US 11 71698134 71698134 single base substitution C T intron_variant BLCA-US 11 71698134 71698134 single base substitution C T synonymous_variant L129L 387C>T BLCA-US 11 71698134 71698134 single base substitution C T synonymous_variant L161L 483C>T BLCA-US 11 71698134 71698134 single base substitution C T synonymous_variant L80L 240C>T BOCA-FR 11 71700599 71700599 single base substitution A C downstream_gene_variant BOCA-FR 11 71700599 71700599 single base substitution A C intron_variant BRCA-EU 11 71636116 71636116 single base substitution C T upstream_gene_variant BRCA-EU 11 71636149 71636149 single base substitution C T upstream_gene_variant BRCA-EU 11 71636593 71636593 single base substitution C G upstream_gene_variant BRCA-EU 11 71637520 71637520 single base substitution T A upstream_gene_variant BRCA-EU 11 71637613 71637613 single base substitution G A upstream_gene_variant BRCA-EU 11 71637915 71637915 single base substitution C G upstream_gene_variant BRCA-EU 11 71638761 71638761 single base substitution T C upstream_gene_variant BRCA-EU 11 71639388 71639390 deletion of <=200bp CAA - upstream_gene_variant BRCA-EU 11 71639709 71639709 single base substitution G A upstream_gene_variant BRCA-EU 11 71639951 71639951 single base substitution G A 5_prime_UTR_variant BRCA-EU 11 71639951 71639951 single base substitution G A upstream_gene_variant BRCA-EU 11 71641137 71641137 single base substitution G C intron_variant BRCA-EU 11 71643073 71643073 deletion of <=200bp G - intron_variant BRCA-EU 11 71643299 71643299 single base substitution C T intron_variant BRCA-EU 11 71643302 71643302 single base substitution C T intron_variant BRCA-EU 11 71643708 71643708 single base substitution C G intron_variant BRCA-EU 11 71643752 71643752 single base substitution C T intron_variant BRCA-EU 11 71644060 71644060 single base substitution C T intron_variant BRCA-EU 11 71644062 71644062 single base substitution C T intron_variant BRCA-EU 11 71649095 71649095 single base substitution G T intron_variant BRCA-EU 11 71650966 71650966 single base substitution T A intron_variant BRCA-EU 11 71651376 71651376 deletion of <=200bp T - intron_variant BRCA-EU 11 71651748 71651748 single base substitution C T intron_variant BRCA-EU 11 71652817 71652817 single base substitution A C intron_variant BRCA-EU 11 71653338 71653338 single base substitution A G intron_variant BRCA-EU 11 71656905 71656905 single base substitution T C intron_variant BRCA-EU 11 71657163 71657163 deletion of <=200bp G - intron_variant BRCA-EU 11 71657597 71657597 deletion of <=200bp A - intron_variant BRCA-EU 11 71658625 71658625 single base substitution G A intron_variant BRCA-EU 11 71658904 71658904 single base substitution T C intron_variant BRCA-EU 11 71659337 71659337 single base substitution G A intron_variant BRCA-EU 11 71659338 71659338 single base substitution G T intron_variant BRCA-EU 11 71660104 71660104 single base substitution A C intron_variant BRCA-EU 11 71660404 71660404 single base substitution C T intron_variant BRCA-EU 11 71661999 71661999 single base substitution G C intron_variant BRCA-EU 11 71662576 71662576 single base substitution G A intron_variant BRCA-EU 11 71663427 71663427 single base substitution C T intron_variant BRCA-EU 11 71663427 71663427 single base substitution C T upstream_gene_variant BRCA-EU 11 71665295 71665295 deletion of <=200bp T - intron_variant BRCA-EU 11 71665295 71665295 deletion of <=200bp T - upstream_gene_variant BRCA-EU 11 71666949 71666949 single base substitution G A intron_variant BRCA-EU 11 71666949 71666949 single base substitution G A upstream_gene_variant BRCA-EU 11 71667364 71667364 single base substitution G T intron_variant BRCA-EU 11 71667364 71667364 single base substitution G T upstream_gene_variant BRCA-EU 11 71667713 71667713 single base substitution T C intron_variant BRCA-EU 11 71667713 71667713 single base substitution T C upstream_gene_variant BRCA-EU 11 71668161 71668161 single base substitution G C intron_variant BRCA-EU 11 71668161 71668161 single base substitution G C upstream_gene_variant BRCA-EU 11 71668212 71668212 single base substitution T A intron_variant BRCA-EU 11 71668212 71668212 single base substitution T A upstream_gene_variant BRCA-EU 11 71670376 71670376 single base substitution T C intron_variant BRCA-EU 11 71671861 71671861 single base substitution T C 5_prime_UTR_variant BRCA-EU 11 71671861 71671861 single base substitution T C exon_variant BRCA-EU 11 71671861 71671861 single base substitution T C missense_variant L24P 71T>C BRCA-EU 11 71671861 71671861 single base substitution T C missense_variant L56P 167T>C BRCA-EU 11 71672508 71672508 single base substitution G C intron_variant BRCA-EU 11 71673121 71673121 single base substitution C G intron_variant BRCA-EU 11 71673753 71673753 single base substitution A G intron_variant BRCA-EU 11 71675481 71675481 single base substitution G A intron_variant BRCA-EU 11 71675502 71675502 single base substitution C G intron_variant BRCA-EU 11 71675764 71675764 single base substitution A G intron_variant BRCA-EU 11 71677005 71677005 single base substitution C T intron_variant BRCA-EU 11 71679295 71679295 single base substitution G T intron_variant BRCA-EU 11 71679357 71679357 single base substitution C T intron_variant BRCA-EU 11 71680342 71680342 single base substitution G C intron_variant BRCA-EU 11 71680669 71680669 single base substitution C G intron_variant BRCA-EU 11 71680922 71680922 deletion of <=200bp T - intron_variant BRCA-EU 11 71681036 71681036 single base substitution T A intron_variant BRCA-EU 11 71684833 71684833 single base substitution C G intron_variant BRCA-EU 11 71687129 71687129 single base substitution C T intron_variant BRCA-EU 11 71690054 71690054 single base substitution G C intron_variant BRCA-EU 11 71690054 71690054 single base substitution G C upstream_gene_variant BRCA-EU 11 71690282 71690282 single base substitution C G intron_variant BRCA-EU 11 71690282 71690282 single base substitution C G upstream_gene_variant BRCA-EU 11 71690798 71690798 single base substitution C A intron_variant BRCA-EU 11 71690798 71690798 single base substitution C A upstream_gene_variant BRCA-EU 11 71691191 71691191 single base substitution G C intron_variant BRCA-EU 11 71691191 71691191 single base substitution G C upstream_gene_variant BRCA-EU 11 71692477 71692477 deletion of <=200bp T - intron_variant BRCA-EU 11 71692477 71692477 deletion of <=200bp T - upstream_gene_variant BRCA-EU 11 71692609 71692609 single base substitution G C intron_variant BRCA-EU 11 71692609 71692609 single base substitution G C upstream_gene_variant BRCA-EU 11 71692867 71692867 single base substitution G C intron_variant BRCA-EU 11 71692867 71692867 single base substitution G C upstream_gene_variant BRCA-EU 11 71693764 71693764 single base substitution G C intron_variant BRCA-EU 11 71693764 71693764 single base substitution G C upstream_gene_variant BRCA-EU 11 71694335 71694354 deletion of <=200bp TACCACAATTTATAACTAAA - downstream_gene_variant BRCA-EU 11 71694335 71694354 deletion of <=200bp TACCACAATTTATAACTAAA - intron_variant BRCA-EU 11 71694335 71694354 deletion of <=200bp TACCACAATTTATAACTAAA - upstream_gene_variant BRCA-EU 11 71694629 71694629 single base substitution G A downstream_gene_variant BRCA-EU 11 71694629 71694629 single base substitution G A intron_variant BRCA-EU 11 71694629 71694629 single base substitution G A upstream_gene_variant BRCA-EU 11 71696988 71696988 deletion of <=200bp A - downstream_gene_variant BRCA-EU 11 71696988 71696988 deletion of <=200bp A - intron_variant BRCA-EU 11 71698147 71698149 deletion of <=200bp TTA - 3_prime_UTR_variant BRCA-EU 11 71698147 71698149 deletion of <=200bp TTA - downstream_gene_variant BRCA-EU 11 71698147 71698149 deletion of <=200bp TTA - exon_variant BRCA-EU 11 71698147 71698149 deletion of <=200bp TTA - inframe_deletion L134 BRCA-EU 11 71698147 71698149 deletion of <=200bp TTA - inframe_deletion L166 BRCA-EU 11 71698147 71698149 deletion of <=200bp TTA - inframe_deletion L85 BRCA-EU 11 71698147 71698149 deletion of <=200bp TTA - intron_variant BRCA-EU 11 71702303 71702303 single base substitution C T downstream_gene_variant BRCA-EU 11 71702303 71702303 single base substitution C T intron_variant BRCA-EU 11 71702303 71702303 single base substitution C T upstream_gene_variant BRCA-EU 11 71704100 71704100 single base substitution T C downstream_gene_variant BRCA-EU 11 71704100 71704100 single base substitution T C intron_variant BRCA-EU 11 71704100 71704100 single base substitution T C upstream_gene_variant BRCA-EU 11 71704570 71704570 single base substitution G C downstream_gene_variant BRCA-EU 11 71704570 71704570 single base substitution G C intron_variant BRCA-EU 11 71704570 71704570 single base substitution G C upstream_gene_variant BRCA-EU 11 71705033 71705033 deletion of <=200bp C - downstream_gene_variant BRCA-EU 11 71705033 71705033 deletion of <=200bp C - intron_variant BRCA-EU 11 71705033 71705033 deletion of <=200bp C - upstream_gene_variant BRCA-EU 11 71706530 71706530 single base substitution G A 3_prime_UTR_variant BRCA-EU 11 71706530 71706530 single base substitution G A downstream_gene_variant BRCA-EU 11 71706530 71706530 single base substitution G A exon_variant BRCA-EU 11 71706530 71706530 single base substitution G A missense_variant V106M 316G>A BRCA-EU 11 71706530 71706530 single base substitution G A missense_variant V185M 553G>A BRCA-EU 11 71706530 71706530 single base substitution G A missense_variant V234M 700G>A BRCA-EU 11 71706530 71706530 single base substitution G A missense_variant V266M 796G>A BRCA-EU 11 71706530 71706530 single base substitution G A synonymous_variant S192S 576G>A BRCA-EU 11 71707417 71707417 single base substitution C T 3_prime_UTR_variant BRCA-EU 11 71707417 71707417 single base substitution C T downstream_gene_variant BRCA-EU 11 71707417 71707417 single base substitution C T exon_variant BRCA-EU 11 71707797 71707797 single base substitution C T 3_prime_UTR_variant BRCA-EU 11 71707797 71707797 single base substitution C T downstream_gene_variant BRCA-EU 11 71709630 71709630 single base substitution A T downstream_gene_variant BRCA-EU 11 71709763 71709763 single base substitution G A downstream_gene_variant BRCA-EU 11 71710494 71710494 single base substitution T C downstream_gene_variant BRCA-EU 11 71710643 71710643 single base substitution C T downstream_gene_variant BRCA-EU 11 71710951 71710951 single base substitution C G downstream_gene_variant BRCA-EU 11 71711030 71711030 single base substitution C T downstream_gene_variant BRCA-EU 11 71712254 71712254 single base substitution G A downstream_gene_variant BRCA-FR 11 71647389 71647389 single base substitution C T intron_variant BRCA-FR 11 71647745 71647745 single base substitution C G intron_variant BRCA-FR 11 71663427 71663427 single base substitution C T intron_variant BRCA-FR 11 71663427 71663427 single base substitution C T upstream_gene_variant BRCA-FR 11 71666949 71666949 single base substitution G A intron_variant BRCA-FR 11 71666949 71666949 single base substitution G A upstream_gene_variant BRCA-FR 11 71690054 71690054 single base substitution G C intron_variant BRCA-FR 11 71690054 71690054 single base substitution G C upstream_gene_variant BRCA-FR 11 71690798 71690798 single base substitution C A intron_variant BRCA-FR 11 71690798 71690798 single base substitution C A upstream_gene_variant BRCA-FR 11 71696776 71696776 single base substitution T C downstream_gene_variant BRCA-FR 11 71696776 71696776 single base substitution T C intron_variant BRCA-FR 11 71707417 71707417 single base substitution C T 3_prime_UTR_variant BRCA-FR 11 71707417 71707417 single base substitution C T downstream_gene_variant BRCA-FR 11 71707417 71707417 single base substitution C T exon_variant BRCA-FR 11 71710951 71710951 single base substitution C G downstream_gene_variant BRCA-FR 11 71711030 71711030 single base substitution C T downstream_gene_variant BRCA-FR 11 71711317 71711317 single base substitution C G downstream_gene_variant BRCA-FR 11 71711336 71711336 single base substitution C G downstream_gene_variant BRCA-FR 11 71711362 71711362 single base substitution C G downstream_gene_variant BRCA-UK 11 71648959 71648959 single base substitution C T intron_variant BRCA-UK 11 71657058 71657058 single base substitution G C intron_variant BRCA-UK 11 71708947 71708947 single base substitution C T downstream_gene_variant BRCA-US 11 71706538 71706538 single base substitution G C 3_prime_UTR_variant BRCA-US 11 71706538 71706538 single base substitution G C downstream_gene_variant BRCA-US 11 71706538 71706538 single base substitution G C exon_variant BRCA-US 11 71706538 71706538 single base substitution G C missense_variant K108N 324G>C BRCA-US 11 71706538 71706538 single base substitution G C missense_variant K187N 561G>C BRCA-US 11 71706538 71706538 single base substitution G C missense_variant K236N 708G>C BRCA-US 11 71706538 71706538 single base substitution G C missense_variant K268N 804G>C BRCA-US 11 71706538 71706538 single base substitution G C missense_variant R195T 584G>C BRCA-US 11 71711525 71711525 single base substitution T C downstream_gene_variant BRCA-US 11 71712371 71712371 single base substitution G C downstream_gene_variant BRCA-US 11 71712520 71712520 single base substitution G A downstream_gene_variant BTCA-JP 11 71701612 71701612 single base substitution G T downstream_gene_variant BTCA-JP 11 71701612 71701612 single base substitution G T intron_variant BTCA-JP 11 71701612 71701612 single base substitution G T upstream_gene_variant BTCA-JP 11 71705621 71705621 deletion of <=200bp A - downstream_gene_variant BTCA-JP 11 71705621 71705621 deletion of <=200bp A - intron_variant BTCA-JP 11 71705621 71705621 deletion of <=200bp A - upstream_gene_variant CESC-US 11 71705867 71705867 single base substitution G C 3_prime_UTR_variant CESC-US 11 71705867 71705867 single base substitution G C downstream_gene_variant CESC-US 11 71705867 71705867 single base substitution G C intron_variant CESC-US 11 71705867 71705867 single base substitution G C missense_variant E163Q 487G>C CESC-US 11 71705867 71705867 single base substitution G C missense_variant E212Q 634G>C CESC-US 11 71705867 71705867 single base substitution G C missense_variant E244Q 730G>C CESC-US 11 71705867 71705867 single base substitution G C missense_variant E84Q 250G>C CESC-US 11 71705867 71705867 single base substitution G C upstream_gene_variant CLLE-ES 11 71680351 71680351 single base substitution A G intron_variant COAD-US 11 71712889 71712889 single base substitution T A downstream_gene_variant COCA-CN 11 71645988 71645988 single base substitution T C intron_variant COCA-CN 11 71647453 71647453 single base substitution T A intron_variant COCA-CN 11 71664629 71664629 single base substitution A G intron_variant COCA-CN 11 71664629 71664629 single base substitution A G upstream_gene_variant COCA-CN 11 71664633 71664633 single base substitution C A intron_variant COCA-CN 11 71664633 71664633 single base substitution C A upstream_gene_variant COCA-CN 11 71664634 71664634 single base substitution T A intron_variant COCA-CN 11 71664634 71664634 single base substitution T A upstream_gene_variant COCA-CN 11 71668290 71668290 single base substitution C T exon_variant COCA-CN 11 71668290 71668290 single base substitution C T intron_variant COCA-CN 11 71668290 71668290 single base substitution C T synonymous_variant L27L 81C>T COCA-CN 11 71668364 71668364 single base substitution T A intron_variant COCA-CN 11 71671860 71671860 single base substitution C A 5_prime_UTR_variant COCA-CN 11 71671860 71671860 single base substitution C A exon_variant COCA-CN 11 71671860 71671860 single base substitution C A missense_variant L24I 70C>A COCA-CN 11 71671860 71671860 single base substitution C A missense_variant L56I 166C>A COCA-CN 11 71671872 71671872 single base substitution G A 5_prime_UTR_variant COCA-CN 11 71671872 71671872 single base substitution G A exon_variant COCA-CN 11 71671872 71671872 single base substitution G A missense_variant A28T 82G>A COCA-CN 11 71671872 71671872 single base substitution G A missense_variant A60T 178G>A COCA-CN 11 71693933 71693933 single base substitution C T 3_prime_UTR_variant COCA-CN 11 71693933 71693933 single base substitution C T exon_variant COCA-CN 11 71693933 71693933 single base substitution C T intron_variant COCA-CN 11 71693933 71693933 single base substitution C T stop_gained R124* 370C>T COCA-CN 11 71693933 71693933 single base substitution C T stop_gained R43* 127C>T COCA-CN 11 71693933 71693933 single base substitution C T stop_gained R92* 274C>T COCA-CN 11 71693933 71693933 single base substitution C T upstream_gene_variant COCA-CN 11 71694001 71694001 single base substitution A C exon_variant COCA-CN 11 71694001 71694001 single base substitution A C intron_variant COCA-CN 11 71694001 71694001 single base substitution A C upstream_gene_variant COCA-CN 11 71711492 71711492 single base substitution G A downstream_gene_variant ESAD-UK 11 71636560 71636560 single base substitution G C upstream_gene_variant ESAD-UK 11 71640716 71640716 single base substitution G A intron_variant ESAD-UK 11 71644833 71644833 single base substitution T A intron_variant ESAD-UK 11 71647218 71647218 single base substitution T G intron_variant ESAD-UK 11 71648433 71648433 single base substitution A C intron_variant ESAD-UK 11 71649981 71649981 single base substitution C T intron_variant ESAD-UK 11 71652763 71652763 single base substitution A C intron_variant ESAD-UK 11 71659299 71659299 single base substitution C T intron_variant ESAD-UK 11 71661613 71661613 single base substitution C T intron_variant ESAD-UK 11 71663582 71663582 single base substitution C T intron_variant ESAD-UK 11 71663582 71663582 single base substitution C T upstream_gene_variant ESAD-UK 11 71664617 71664617 single base substitution T C intron_variant ESAD-UK 11 71664617 71664617 single base substitution T C upstream_gene_variant ESAD-UK 11 71671558 71671558 single base substitution T C intron_variant ESAD-UK 11 71671871 71671871 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 11 71671871 71671871 single base substitution C T exon_variant ESAD-UK 11 71671871 71671871 single base substitution C T synonymous_variant I27I 81C>T ESAD-UK 11 71671871 71671871 single base substitution C T synonymous_variant I59I 177C>T ESAD-UK 11 71672795 71672795 single base substitution C T intron_variant ESAD-UK 11 71674467 71674467 single base substitution G A intron_variant ESAD-UK 11 71675899 71675899 single base substitution G T intron_variant ESAD-UK 11 71678482 71678482 single base substitution G A intron_variant ESAD-UK 11 71680092 71680092 single base substitution C T intron_variant ESAD-UK 11 71682351 71682351 single base substitution G T intron_variant ESAD-UK 11 71682598 71682598 single base substitution A G intron_variant ESAD-UK 11 71687581 71687581 single base substitution T G intron_variant ESAD-UK 11 71690748 71690748 single base substitution T C intron_variant ESAD-UK 11 71690748 71690748 single base substitution T C upstream_gene_variant ESAD-UK 11 71695529 71695529 single base substitution G A downstream_gene_variant ESAD-UK 11 71695529 71695529 single base substitution G A intron_variant ESAD-UK 11 71695883 71695883 single base substitution T C downstream_gene_variant ESAD-UK 11 71695883 71695883 single base substitution T C intron_variant ESAD-UK 11 71696986 71696986 single base substitution A C downstream_gene_variant ESAD-UK 11 71696986 71696986 single base substitution A C intron_variant ESAD-UK 11 71697165 71697165 single base substitution A G downstream_gene_variant ESAD-UK 11 71697165 71697165 single base substitution A G intron_variant ESAD-UK 11 71697656 71697656 single base substitution A T downstream_gene_variant ESAD-UK 11 71697656 71697656 single base substitution A T intron_variant ESAD-UK 11 71698545 71698545 single base substitution A C downstream_gene_variant ESAD-UK 11 71698545 71698545 single base substitution A C intron_variant ESAD-UK 11 71699870 71699870 deletion of <=200bp A - downstream_gene_variant ESAD-UK 11 71699870 71699870 deletion of <=200bp A - intron_variant ESAD-UK 11 71700162 71700162 single base substitution G A downstream_gene_variant ESAD-UK 11 71700162 71700162 single base substitution G A intron_variant ESAD-UK 11 71703720 71703720 single base substitution T C downstream_gene_variant ESAD-UK 11 71703720 71703720 single base substitution T C intron_variant ESAD-UK 11 71703720 71703720 single base substitution T C upstream_gene_variant ESAD-UK 11 71708794 71708794 single base substitution G A downstream_gene_variant KIRC-US 11 71707272 71707272 single base substitution C A 3_prime_UTR_variant KIRC-US 11 71707272 71707272 single base substitution C A downstream_gene_variant KIRC-US 11 71707272 71707272 single base substitution C A exon_variant KIRC-US 11 71707272 71707272 single base substitution C A missense_variant L139M 415C>A KIRC-US 11 71707272 71707272 single base substitution C A missense_variant L218M 652C>A KIRC-US 11 71707272 71707272 single base substitution C A missense_variant L267M 799C>A KIRC-US 11 71707272 71707272 single base substitution C A missense_variant L299M 895C>A KIRC-US 11 71711432 71711432 single base substitution C T downstream_gene_variant LAML-KR 11 71701763 71701763 single base substitution G A downstream_gene_variant LAML-KR 11 71701763 71701763 single base substitution G A exon_variant LAML-KR 11 71701763 71701763 single base substitution G A intron_variant LAML-KR 11 71701763 71701763 single base substitution G A splice_region_variant LAML-KR 11 71701763 71701763 single base substitution G A upstream_gene_variant LAML-KR 11 71711384 71711384 single base substitution G A downstream_gene_variant LICA-CN 11 71707346 71707346 single base substitution C A 3_prime_UTR_variant LICA-CN 11 71707346 71707346 single base substitution C A downstream_gene_variant LICA-CN 11 71707346 71707346 single base substitution C A exon_variant LICA-CN 11 71707346 71707346 single base substitution C A synonymous_variant I163I 489C>A LICA-CN 11 71707346 71707346 single base substitution C A synonymous_variant I242I 726C>A LICA-CN 11 71707346 71707346 single base substitution C A synonymous_variant I291I 873C>A LICA-CN 11 71707346 71707346 single base substitution C A synonymous_variant I323I 969C>A LICA-FR 11 71676301 71676302 deletion of <=200bp TT - intron_variant LICA-FR 11 71681217 71681217 single base substitution A T intron_variant LICA-FR 11 71685641 71685641 single base substitution A G intron_variant LICA-FR 11 71691731 71691731 single base substitution G C intron_variant LICA-FR 11 71691731 71691731 single base substitution G C upstream_gene_variant LICA-FR 11 71692083 71692083 single base substitution C A intron_variant LICA-FR 11 71692083 71692083 single base substitution C A upstream_gene_variant LICA-FR 11 71703450 71703450 single base substitution A G downstream_gene_variant LICA-FR 11 71703450 71703450 single base substitution A G intron_variant LICA-FR 11 71703450 71703450 single base substitution A G upstream_gene_variant LICA-FR 11 71712265 71712265 single base substitution C T downstream_gene_variant LICA-FR 11 71712314 71712314 single base substitution G T downstream_gene_variant LIHC-US 11 71671841 71671841 single base substitution T C 5_prime_UTR_variant LIHC-US 11 71671841 71671841 single base substitution T C exon_variant LIHC-US 11 71671841 71671841 single base substitution T C synonymous_variant A17A 51T>C LIHC-US 11 71671841 71671841 single base substitution T C synonymous_variant A49A 147T>C LIHC-US 11 71705854 71705854 single base substitution A G 3_prime_UTR_variant LIHC-US 11 71705854 71705854 single base substitution A G downstream_gene_variant LIHC-US 11 71705854 71705854 single base substitution A G intron_variant LIHC-US 11 71705854 71705854 single base substitution A G synonymous_variant E158E 474A>G LIHC-US 11 71705854 71705854 single base substitution A G synonymous_variant E207E 621A>G LIHC-US 11 71705854 71705854 single base substitution A G synonymous_variant E239E 717A>G LIHC-US 11 71705854 71705854 single base substitution A G synonymous_variant E79E 237A>G LIHC-US 11 71705854 71705854 single base substitution A G upstream_gene_variant LIHC-US 11 71711533 71711533 single base substitution C T downstream_gene_variant LINC-JP 11 71636238 71636238 single base substitution T C upstream_gene_variant LINC-JP 11 71638042 71638042 single base substitution T A upstream_gene_variant LINC-JP 11 71639793 71639793 single base substitution G T 5_prime_UTR_variant LINC-JP 11 71639793 71639793 single base substitution G T upstream_gene_variant LINC-JP 11 71639794 71639794 single base substitution C T 5_prime_UTR_variant LINC-JP 11 71639794 71639794 single base substitution C T upstream_gene_variant LINC-JP 11 71685545 71685545 single base substitution T G intron_variant LINC-JP 11 71690028 71690028 single base substitution A G intron_variant LINC-JP 11 71690028 71690028 single base substitution A G upstream_gene_variant LINC-JP 11 71699702 71699702 single base substitution G A downstream_gene_variant LINC-JP 11 71699702 71699702 single base substitution G A intron_variant LINC-JP 11 71699886 71699886 single base substitution A G downstream_gene_variant LINC-JP 11 71699886 71699886 single base substitution A G intron_variant LINC-JP 11 71700148 71700148 single base substitution T G downstream_gene_variant LINC-JP 11 71700148 71700148 single base substitution T G intron_variant LINC-JP 11 71702265 71702265 single base substitution A G downstream_gene_variant LINC-JP 11 71702265 71702265 single base substitution A G intron_variant LINC-JP 11 71702265 71702265 single base substitution A G upstream_gene_variant LINC-JP 11 71713459 71713459 single base substitution C T downstream_gene_variant LIRI-JP 11 71640229 71640229 single base substitution A G intron_variant LIRI-JP 11 71642036 71642036 single base substitution G A intron_variant LIRI-JP 11 71642766 71642766 single base substitution A G intron_variant LIRI-JP 11 71642919 71642919 single base substitution C G intron_variant LIRI-JP 11 71643007 71643007 single base substitution A G intron_variant LIRI-JP 11 71644364 71644364 single base substitution A G intron_variant LIRI-JP 11 71644560 71644560 single base substitution A C intron_variant LIRI-JP 11 71645918 71645918 single base substitution T C intron_variant LIRI-JP 11 71647370 71647370 single base substitution G A intron_variant LIRI-JP 11 71649154 71649154 single base substitution C T intron_variant LIRI-JP 11 71657620 71657620 single base substitution A G intron_variant LIRI-JP 11 71658909 71658909 single base substitution A T intron_variant LIRI-JP 11 71661600 71661600 single base substitution A G intron_variant LIRI-JP 11 71661678 71661678 single base substitution A G intron_variant LIRI-JP 11 71662497 71662497 single base substitution C T intron_variant LIRI-JP 11 71662594 71662594 single base substitution C G intron_variant LIRI-JP 11 71662647 71662647 single base substitution T C intron_variant LIRI-JP 11 71662922 71662922 single base substitution T A intron_variant LIRI-JP 11 71663218 71663218 single base substitution G A intron_variant LIRI-JP 11 71663261 71663261 single base substitution C T intron_variant LIRI-JP 11 71666505 71666505 single base substitution A G intron_variant LIRI-JP 11 71666505 71666505 single base substitution A G upstream_gene_variant LIRI-JP 11 71666727 71666727 single base substitution T C intron_variant LIRI-JP 11 71666727 71666727 single base substitution T C upstream_gene_variant LIRI-JP 11 71667959 71667959 single base substitution A G intron_variant LIRI-JP 11 71667959 71667959 single base substitution A G upstream_gene_variant LIRI-JP 11 71669964 71669964 single base substitution G A intron_variant LIRI-JP 11 71673998 71673998 single base substitution C G intron_variant LIRI-JP 11 71674525 71674525 single base substitution G T intron_variant LIRI-JP 11 71674633 71674633 single base substitution C A intron_variant LIRI-JP 11 71675059 71675059 single base substitution A C intron_variant LIRI-JP 11 71675570 71675570 single base substitution A G intron_variant LIRI-JP 11 71676179 71676179 single base substitution A G intron_variant LIRI-JP 11 71678656 71678656 single base substitution A G intron_variant LIRI-JP 11 71680571 71680571 single base substitution A G intron_variant LIRI-JP 11 71681159 71681159 single base substitution G A intron_variant LIRI-JP 11 71681250 71681250 single base substitution G T intron_variant LIRI-JP 11 71681419 71681447 deletion of <=200bp TAGTTTTGGTTGACACAGTGGCTTACACC - intron_variant LIRI-JP 11 71682199 71682199 single base substitution G T intron_variant LIRI-JP 11 71683513 71683513 single base substitution A G intron_variant LIRI-JP 11 71684297 71684297 single base substitution G A intron_variant LIRI-JP 11 71686024 71686024 single base substitution A T intron_variant LIRI-JP 11 71687438 71687438 single base substitution G C intron_variant LIRI-JP 11 71688253 71688253 single base substitution A T intron_variant LIRI-JP 11 71689599 71689599 deletion of <=200bp A - intron_variant LIRI-JP 11 71690272 71690272 single base substitution T C intron_variant LIRI-JP 11 71690272 71690272 single base substitution T C upstream_gene_variant LIRI-JP 11 71694069 71694069 single base substitution A G exon_variant LIRI-JP 11 71694069 71694069 single base substitution A G intron_variant LIRI-JP 11 71694069 71694069 single base substitution A G upstream_gene_variant LIRI-JP 11 71694718 71694718 single base substitution C G downstream_gene_variant LIRI-JP 11 71694718 71694718 single base substitution C G exon_variant LIRI-JP 11 71694718 71694718 single base substitution C G intron_variant LIRI-JP 11 71698112 71698112 single base substitution A G 3_prime_UTR_variant LIRI-JP 11 71698112 71698112 single base substitution A G downstream_gene_variant LIRI-JP 11 71698112 71698112 single base substitution A G exon_variant LIRI-JP 11 71698112 71698112 single base substitution A G intron_variant LIRI-JP 11 71698112 71698112 single base substitution A G missense_variant Y122C 365A>G LIRI-JP 11 71698112 71698112 single base substitution A G missense_variant Y154C 461A>G LIRI-JP 11 71698112 71698112 single base substitution A G missense_variant Y73C 218A>G LIRI-JP 11 71698759 71698759 single base substitution A C downstream_gene_variant LIRI-JP 11 71698759 71698759 single base substitution A C intron_variant LIRI-JP 11 71699424 71699424 single base substitution C T downstream_gene_variant LIRI-JP 11 71699424 71699424 single base substitution C T intron_variant LIRI-JP 11 71700709 71700709 single base substitution A C downstream_gene_variant LIRI-JP 11 71700709 71700709 single base substitution A C intron_variant LIRI-JP 11 71700846 71700846 single base substitution G C downstream_gene_variant LIRI-JP 11 71700846 71700846 single base substitution G C intron_variant LIRI-JP 11 71703334 71703334 single base substitution A C downstream_gene_variant LIRI-JP 11 71703334 71703334 single base substitution A C intron_variant LIRI-JP 11 71703334 71703334 single base substitution A C upstream_gene_variant LIRI-JP 11 71703475 71703475 single base substitution A T downstream_gene_variant LIRI-JP 11 71703475 71703475 single base substitution A T intron_variant LIRI-JP 11 71703475 71703475 single base substitution A T upstream_gene_variant LIRI-JP 11 71704017 71704017 single base substitution G T downstream_gene_variant LIRI-JP 11 71704017 71704017 single base substitution G T intron_variant LIRI-JP 11 71704017 71704017 single base substitution G T upstream_gene_variant LIRI-JP 11 71705679 71705679 single base substitution A G downstream_gene_variant LIRI-JP 11 71705679 71705679 single base substitution A G intron_variant LIRI-JP 11 71705679 71705679 single base substitution A G upstream_gene_variant LIRI-JP 11 71712973 71712973 single base substitution A T downstream_gene_variant LUSC-KR 11 71638045 71638045 single base substitution C T upstream_gene_variant LUSC-KR 11 71638249 71638249 single base substitution C A upstream_gene_variant LUSC-KR 11 71640088 71640088 single base substitution T G 5_prime_UTR_variant LUSC-KR 11 71640088 71640088 single base substitution T G upstream_gene_variant LUSC-KR 11 71641645 71641645 single base substitution G A intron_variant LUSC-KR 11 71642044 71642044 single base substitution G A intron_variant LUSC-KR 11 71646341 71646341 single base substitution C G intron_variant LUSC-KR 11 71646769 71646769 single base substitution G T intron_variant LUSC-KR 11 71647142 71647142 single base substitution C T intron_variant LUSC-KR 11 71652145 71652145 single base substitution G T intron_variant LUSC-KR 11 71653040 71653040 single base substitution G C intron_variant LUSC-KR 11 71654234 71654234 single base substitution A G intron_variant LUSC-KR 11 71656797 71656797 single base substitution G C intron_variant LUSC-KR 11 71658323 71658323 single base substitution G T intron_variant LUSC-KR 11 71658800 71658800 single base substitution G A intron_variant LUSC-KR 11 71658899 71658899 single base substitution T A intron_variant LUSC-KR 11 71659360 71659360 single base substitution G T intron_variant LUSC-KR 11 71663265 71663265 single base substitution A G intron_variant LUSC-KR 11 71670926 71670926 single base substitution C G intron_variant LUSC-KR 11 71678414 71678414 single base substitution G T intron_variant LUSC-KR 11 71684350 71684350 single base substitution G T intron_variant LUSC-KR 11 71708415 71708415 single base substitution G A 3_prime_UTR_variant LUSC-KR 11 71708415 71708415 single base substitution G A downstream_gene_variant LUSC-KR 11 71708528 71708528 single base substitution G T 3_prime_UTR_variant LUSC-KR 11 71708528 71708528 single base substitution G T downstream_gene_variant LUSC-KR 11 71708693 71708693 single base substitution G A downstream_gene_variant LUSC-KR 11 71710478 71710478 single base substitution A C downstream_gene_variant LUSC-KR 11 71711386 71711386 single base substitution C T downstream_gene_variant LUSC-US 11 71668300 71668300 single base substitution G C exon_variant LUSC-US 11 71668300 71668300 single base substitution G C intron_variant LUSC-US 11 71668300 71668300 single base substitution G C missense_variant E31Q 91G>C LUSC-US 11 71706589 71706589 single base substitution C T 3_prime_UTR_variant LUSC-US 11 71706589 71706589 single base substitution C T downstream_gene_variant LUSC-US 11 71706589 71706589 single base substitution C T exon_variant LUSC-US 11 71706589 71706589 single base substitution C T synonymous_variant F125F 375C>T LUSC-US 11 71706589 71706589 single base substitution C T synonymous_variant F204F 612C>T LUSC-US 11 71706589 71706589 single base substitution C T synonymous_variant F253F 759C>T LUSC-US 11 71706589 71706589 single base substitution C T synonymous_variant F285F 855C>T MALY-DE 11 71636429 71636429 single base substitution A G upstream_gene_variant MALY-DE 11 71639534 71639534 single base substitution G T upstream_gene_variant MALY-DE 11 71640450 71640450 single base substitution G A intron_variant MALY-DE 11 71644747 71644747 single base substitution G T intron_variant MALY-DE 11 71662729 71662729 single base substitution T C intron_variant MALY-DE 11 71663511 71663511 single base substitution A G intron_variant MALY-DE 11 71663511 71663511 single base substitution A G upstream_gene_variant MALY-DE 11 71669381 71669381 single base substitution T G intron_variant MALY-DE 11 71670533 71670533 single base substitution A G intron_variant MALY-DE 11 71673181 71673181 insertion of <=200bp - T intron_variant MALY-DE 11 71674665 71674665 single base substitution A C intron_variant MALY-DE 11 71676145 71676145 single base substitution T C intron_variant MALY-DE 11 71677534 71677534 single base substitution T A intron_variant MALY-DE 11 71682631 71682631 single base substitution T C intron_variant MALY-DE 11 71682882 71682882 single base substitution G A intron_variant MALY-DE 11 71688413 71688413 single base substitution A G intron_variant MALY-DE 11 71693292 71693292 single base substitution G T intron_variant MALY-DE 11 71693292 71693292 single base substitution G T upstream_gene_variant MALY-DE 11 71694251 71694251 single base substitution T A downstream_gene_variant MALY-DE 11 71694251 71694251 single base substitution T A intron_variant MALY-DE 11 71694251 71694251 single base substitution T A upstream_gene_variant MALY-DE 11 71695392 71695392 single base substitution G T downstream_gene_variant MALY-DE 11 71695392 71695392 single base substitution G T intron_variant MALY-DE 11 71698708 71698708 single base substitution C G downstream_gene_variant MALY-DE 11 71698708 71698708 single base substitution C G intron_variant MALY-DE 11 71707709 71707709 single base substitution C G 3_prime_UTR_variant MALY-DE 11 71707709 71707709 single base substitution C G downstream_gene_variant MELA-AU 11 71634768 71634768 single base substitution A C upstream_gene_variant MELA-AU 11 71634878 71634878 single base substitution G A upstream_gene_variant MELA-AU 11 71635047 71635047 single base substitution T C upstream_gene_variant MELA-AU 11 71636225 71636225 single base substitution G A upstream_gene_variant MELA-AU 11 71636845 71636845 single base substitution G A upstream_gene_variant MELA-AU 11 71636971 71636971 single base substitution A G upstream_gene_variant MELA-AU 11 71636986 71636986 single base substitution T G upstream_gene_variant MELA-AU 11 71637089 71637089 single base substitution G A upstream_gene_variant MELA-AU 11 71637487 71637487 single base substitution G A upstream_gene_variant MELA-AU 11 71637613 71637613 single base substitution G A upstream_gene_variant MELA-AU 11 71637954 71637954 single base substitution G A upstream_gene_variant MELA-AU 11 71638779 71638779 single base substitution A G upstream_gene_variant MELA-AU 11 71639364 71639365 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 11 71639495 71639495 single base substitution C T upstream_gene_variant MELA-AU 11 71639683 71639683 single base substitution G A upstream_gene_variant MELA-AU 11 71639684 71639684 single base substitution G A upstream_gene_variant MELA-AU 11 71639689 71639689 single base substitution G A upstream_gene_variant MELA-AU 11 71639724 71639725 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 11 71639737 71639737 single base substitution C T upstream_gene_variant MELA-AU 11 71639969 71639969 single base substitution C T 5_prime_UTR_variant MELA-AU 11 71639969 71639969 single base substitution C T upstream_gene_variant MELA-AU 11 71640180 71640180 single base substitution G C intron_variant MELA-AU 11 71641018 71641018 single base substitution C T intron_variant MELA-AU 11 71641019 71641019 single base substitution C T intron_variant MELA-AU 11 71641464 71641464 single base substitution G A intron_variant MELA-AU 11 71641834 71641834 single base substitution T C intron_variant MELA-AU 11 71642155 71642155 single base substitution A G intron_variant MELA-AU 11 71643827 71643827 single base substitution C T intron_variant MELA-AU 11 71643907 71643907 single base substitution C T intron_variant MELA-AU 11 71644162 71644162 single base substitution C T intron_variant MELA-AU 11 71644209 71644209 single base substitution C T intron_variant MELA-AU 11 71644222 71644222 single base substitution G T intron_variant MELA-AU 11 71645037 71645037 single base substitution C T intron_variant MELA-AU 11 71645137 71645137 single base substitution C T intron_variant MELA-AU 11 71645234 71645234 single base substitution C T intron_variant MELA-AU 11 71646199 71646199 single base substitution G A intron_variant MELA-AU 11 71646305 71646305 single base substitution C T intron_variant MELA-AU 11 71646547 71646547 single base substitution C T intron_variant MELA-AU 11 71647785 71647785 single base substitution C T intron_variant MELA-AU 11 71647815 71647815 single base substitution G A intron_variant MELA-AU 11 71648257 71648257 single base substitution C T intron_variant MELA-AU 11 71648659 71648659 single base substitution C T intron_variant MELA-AU 11 71648814 71648814 single base substitution G A intron_variant MELA-AU 11 71648999 71648999 single base substitution C T intron_variant MELA-AU 11 71649107 71649107 single base substitution C T intron_variant MELA-AU 11 71649276 71649276 single base substitution T A intron_variant MELA-AU 11 71649585 71649585 single base substitution G A intron_variant MELA-AU 11 71650471 71650471 single base substitution C T intron_variant MELA-AU 11 71650978 71650978 single base substitution T C intron_variant MELA-AU 11 71651383 71651383 single base substitution C T intron_variant MELA-AU 11 71651676 71651676 single base substitution C T intron_variant MELA-AU 11 71651695 71651695 single base substitution A T intron_variant MELA-AU 11 71652164 71652164 single base substitution C T intron_variant MELA-AU 11 71652388 71652388 single base substitution C T intron_variant MELA-AU 11 71653206 71653206 single base substitution C T intron_variant MELA-AU 11 71653221 71653221 single base substitution C T intron_variant MELA-AU 11 71653831 71653831 single base substitution T G intron_variant MELA-AU 11 71653855 71653855 single base substitution C A intron_variant MELA-AU 11 71654097 71654097 single base substitution C T intron_variant MELA-AU 11 71654415 71654415 single base substitution G A intron_variant MELA-AU 11 71654809 71654810 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 11 71655701 71655701 single base substitution C T intron_variant MELA-AU 11 71656482 71656482 single base substitution C T intron_variant MELA-AU 11 71656935 71656935 single base substitution G A intron_variant MELA-AU 11 71657039 71657039 single base substitution C T intron_variant MELA-AU 11 71657125 71657125 single base substitution C T intron_variant MELA-AU 11 71657190 71657190 single base substitution C T intron_variant MELA-AU 11 71659364 71659364 single base substitution C T intron_variant MELA-AU 11 71659408 71659408 single base substitution A C intron_variant MELA-AU 11 71660856 71660856 single base substitution G A intron_variant MELA-AU 11 71661687 71661687 single base substitution C G intron_variant MELA-AU 11 71662174 71662174 single base substitution G A intron_variant MELA-AU 11 71663028 71663028 single base substitution G A intron_variant MELA-AU 11 71664907 71664907 single base substitution C T intron_variant MELA-AU 11 71664907 71664907 single base substitution C T upstream_gene_variant MELA-AU 11 71664956 71664956 single base substitution C T intron_variant MELA-AU 11 71664956 71664956 single base substitution C T upstream_gene_variant MELA-AU 11 71665767 71665767 single base substitution C T intron_variant MELA-AU 11 71665767 71665767 single base substitution C T upstream_gene_variant MELA-AU 11 71665968 71665968 single base substitution G A intron_variant MELA-AU 11 71665968 71665968 single base substitution G A upstream_gene_variant MELA-AU 11 71666890 71666890 single base substitution C T intron_variant MELA-AU 11 71666890 71666890 single base substitution C T upstream_gene_variant MELA-AU 11 71667172 71667172 single base substitution A G intron_variant MELA-AU 11 71667172 71667172 single base substitution A G upstream_gene_variant MELA-AU 11 71667573 71667573 single base substitution G A intron_variant MELA-AU 11 71667573 71667573 single base substitution G A upstream_gene_variant MELA-AU 11 71667719 71667719 single base substitution C T intron_variant MELA-AU 11 71667719 71667719 single base substitution C T upstream_gene_variant MELA-AU 11 71668847 71668847 single base substitution G A intron_variant MELA-AU 11 71669033 71669033 single base substitution C T intron_variant MELA-AU 11 71669600 71669600 single base substitution C T intron_variant MELA-AU 11 71669686 71669686 single base substitution C T intron_variant MELA-AU 11 71670359 71670359 single base substitution T C intron_variant MELA-AU 11 71670772 71670772 single base substitution C T intron_variant MELA-AU 11 71671169 71671169 single base substitution C T intron_variant MELA-AU 11 71671489 71671489 single base substitution C T intron_variant MELA-AU 11 71671534 71671534 single base substitution C T intron_variant MELA-AU 11 71672432 71672432 single base substitution C T intron_variant MELA-AU 11 71672524 71672524 single base substitution C T intron_variant MELA-AU 11 71672784 71672784 single base substitution C T intron_variant MELA-AU 11 71673044 71673044 single base substitution C T intron_variant MELA-AU 11 71673247 71673247 single base substitution C T 3_prime_UTR_variant MELA-AU 11 71673247 71673247 single base substitution C T 5_prime_UTR_variant MELA-AU 11 71673247 71673247 single base substitution C T exon_variant MELA-AU 11 71673247 71673247 single base substitution C T intron_variant MELA-AU 11 71673458 71673458 single base substitution C T intron_variant MELA-AU 11 71673922 71673922 single base substitution C T intron_variant MELA-AU 11 71674523 71674523 single base substitution G A intron_variant MELA-AU 11 71675021 71675021 single base substitution A G intron_variant MELA-AU 11 71675529 71675529 single base substitution C T intron_variant MELA-AU 11 71675633 71675633 single base substitution C T intron_variant MELA-AU 11 71675767 71675767 single base substitution C T intron_variant MELA-AU 11 71676253 71676253 single base substitution C T intron_variant MELA-AU 11 71676881 71676881 single base substitution T C intron_variant MELA-AU 11 71677761 71677761 single base substitution C T intron_variant MELA-AU 11 71679761 71679761 single base substitution C T intron_variant MELA-AU 11 71680014 71680014 single base substitution C T intron_variant MELA-AU 11 71680070 71680070 single base substitution T A intron_variant MELA-AU 11 71680539 71680539 single base substitution C T intron_variant MELA-AU 11 71681210 71681210 single base substitution C T intron_variant MELA-AU 11 71682897 71682897 single base substitution G A intron_variant MELA-AU 11 71683110 71683110 single base substitution A G intron_variant MELA-AU 11 71683765 71683765 single base substitution C T intron_variant MELA-AU 11 71685228 71685228 single base substitution C T intron_variant MELA-AU 11 71686291 71686291 single base substitution C T intron_variant MELA-AU 11 71686415 71686415 single base substitution T C intron_variant MELA-AU 11 71687286 71687286 single base substitution T G intron_variant MELA-AU 11 71687432 71687432 single base substitution C T intron_variant MELA-AU 11 71687956 71687956 single base substitution C T intron_variant MELA-AU 11 71688003 71688003 single base substitution C T intron_variant MELA-AU 11 71688262 71688262 single base substitution C T intron_variant MELA-AU 11 71688325 71688325 single base substitution C A intron_variant MELA-AU 11 71688447 71688447 single base substitution G A intron_variant MELA-AU 11 71689351 71689351 single base substitution G A intron_variant MELA-AU 11 71690312 71690312 single base substitution G A intron_variant MELA-AU 11 71690312 71690312 single base substitution G A upstream_gene_variant MELA-AU 11 71690427 71690427 single base substitution C T intron_variant MELA-AU 11 71690427 71690427 single base substitution C T upstream_gene_variant MELA-AU 11 71690469 71690469 single base substitution T C intron_variant MELA-AU 11 71690469 71690469 single base substitution T C upstream_gene_variant MELA-AU 11 71690614 71690614 single base substitution C T intron_variant MELA-AU 11 71690614 71690614 single base substitution C T upstream_gene_variant MELA-AU 11 71691046 71691046 single base substitution C T intron_variant MELA-AU 11 71691046 71691046 single base substitution C T upstream_gene_variant MELA-AU 11 71691591 71691591 single base substitution C T intron_variant MELA-AU 11 71691591 71691591 single base substitution C T upstream_gene_variant MELA-AU 11 71692055 71692055 single base substitution C T intron_variant MELA-AU 11 71692055 71692055 single base substitution C T upstream_gene_variant MELA-AU 11 71692081 71692081 single base substitution C T intron_variant MELA-AU 11 71692081 71692081 single base substitution C T upstream_gene_variant MELA-AU 11 71692504 71692504 single base substitution G T intron_variant MELA-AU 11 71692504 71692504 single base substitution G T upstream_gene_variant MELA-AU 11 71693333 71693333 single base substitution G A intron_variant MELA-AU 11 71693333 71693333 single base substitution G A upstream_gene_variant MELA-AU 11 71693379 71693379 single base substitution C T intron_variant MELA-AU 11 71693379 71693379 single base substitution C T upstream_gene_variant MELA-AU 11 71693381 71693381 single base substitution C T intron_variant MELA-AU 11 71693381 71693381 single base substitution C T upstream_gene_variant MELA-AU 11 71693911 71693911 single base substitution C T 3_prime_UTR_variant MELA-AU 11 71693911 71693911 single base substitution C T exon_variant MELA-AU 11 71693911 71693911 single base substitution C T intron_variant MELA-AU 11 71693911 71693911 single base substitution C T synonymous_variant A116A 348C>T MELA-AU 11 71693911 71693911 single base substitution C T synonymous_variant A35A 105C>T MELA-AU 11 71693911 71693911 single base substitution C T synonymous_variant A84A 252C>T MELA-AU 11 71693911 71693911 single base substitution C T upstream_gene_variant MELA-AU 11 71693958 71693958 single base substitution C T 3_prime_UTR_variant MELA-AU 11 71693958 71693958 single base substitution C T exon_variant MELA-AU 11 71693958 71693958 single base substitution C T intron_variant MELA-AU 11 71693958 71693958 single base substitution C T missense_variant P100L 299C>T MELA-AU 11 71693958 71693958 single base substitution C T missense_variant P132L 395C>T MELA-AU 11 71693958 71693958 single base substitution C T missense_variant P51L 152C>T MELA-AU 11 71693958 71693958 single base substitution C T upstream_gene_variant MELA-AU 11 71694121 71694121 single base substitution C T exon_variant MELA-AU 11 71694121 71694121 single base substitution C T intron_variant MELA-AU 11 71694121 71694121 single base substitution C T upstream_gene_variant MELA-AU 11 71694132 71694132 single base substitution C T exon_variant MELA-AU 11 71694132 71694132 single base substitution C T intron_variant MELA-AU 11 71694132 71694132 single base substitution C T upstream_gene_variant MELA-AU 11 71694154 71694154 single base substitution C T exon_variant MELA-AU 11 71694154 71694154 single base substitution C T intron_variant MELA-AU 11 71694154 71694154 single base substitution C T upstream_gene_variant MELA-AU 11 71694478 71694478 single base substitution G A downstream_gene_variant MELA-AU 11 71694478 71694478 single base substitution G A intron_variant MELA-AU 11 71694478 71694478 single base substitution G A upstream_gene_variant MELA-AU 11 71694595 71694595 single base substitution C T downstream_gene_variant MELA-AU 11 71694595 71694595 single base substitution C T intron_variant MELA-AU 11 71694595 71694595 single base substitution C T upstream_gene_variant MELA-AU 11 71695402 71695402 single base substitution T G downstream_gene_variant MELA-AU 11 71695402 71695402 single base substitution T G intron_variant MELA-AU 11 71696274 71696274 single base substitution C G downstream_gene_variant MELA-AU 11 71696274 71696274 single base substitution C G intron_variant MELA-AU 11 71697832 71697832 single base substitution A G downstream_gene_variant MELA-AU 11 71697832 71697832 single base substitution A G intron_variant MELA-AU 11 71698312 71698312 single base substitution C T downstream_gene_variant MELA-AU 11 71698312 71698312 single base substitution C T intron_variant MELA-AU 11 71699278 71699278 single base substitution C T downstream_gene_variant MELA-AU 11 71699278 71699278 single base substitution C T intron_variant MELA-AU 11 71699413 71699413 single base substitution C T downstream_gene_variant MELA-AU 11 71699413 71699413 single base substitution C T intron_variant MELA-AU 11 71699446 71699446 single base substitution A G downstream_gene_variant MELA-AU 11 71699446 71699446 single base substitution A G intron_variant MELA-AU 11 71699893 71699893 single base substitution C T downstream_gene_variant MELA-AU 11 71699893 71699893 single base substitution C T intron_variant MELA-AU 11 71700779 71700779 single base substitution T G downstream_gene_variant MELA-AU 11 71700779 71700779 single base substitution T G intron_variant MELA-AU 11 71700919 71700919 single base substitution T C downstream_gene_variant MELA-AU 11 71700919 71700919 single base substitution T C intron_variant MELA-AU 11 71701046 71701046 single base substitution C T downstream_gene_variant MELA-AU 11 71701046 71701046 single base substitution C T intron_variant MELA-AU 11 71701096 71701096 single base substitution C A downstream_gene_variant MELA-AU 11 71701096 71701096 single base substitution C A intron_variant MELA-AU 11 71701162 71701162 single base substitution C T downstream_gene_variant MELA-AU 11 71701162 71701162 single base substitution C T intron_variant MELA-AU 11 71701756 71701756 single base substitution C T 3_prime_UTR_variant MELA-AU 11 71701756 71701756 single base substitution C T downstream_gene_variant MELA-AU 11 71701756 71701756 single base substitution C T exon_variant MELA-AU 11 71701756 71701756 single base substitution C T intron_variant MELA-AU 11 71701756 71701756 single base substitution C T missense_variant T126I 377C>T MELA-AU 11 71701756 71701756 single base substitution C T missense_variant T175I 524C>T MELA-AU 11 71701756 71701756 single base substitution C T missense_variant T207I 620C>T MELA-AU 11 71701756 71701756 single base substitution C T upstream_gene_variant MELA-AU 11 71702888 71702888 single base substitution C T downstream_gene_variant MELA-AU 11 71702888 71702888 single base substitution C T intron_variant MELA-AU 11 71702888 71702888 single base substitution C T upstream_gene_variant MELA-AU 11 71704479 71704479 single base substitution T A downstream_gene_variant MELA-AU 11 71704479 71704479 single base substitution T A intron_variant MELA-AU 11 71704479 71704479 single base substitution T A upstream_gene_variant MELA-AU 11 71704522 71704522 single base substitution T C downstream_gene_variant MELA-AU 11 71704522 71704522 single base substitution T C intron_variant MELA-AU 11 71704522 71704522 single base substitution T C upstream_gene_variant MELA-AU 11 71705108 71705108 single base substitution G T downstream_gene_variant MELA-AU 11 71705108 71705108 single base substitution G T intron_variant MELA-AU 11 71705108 71705108 single base substitution G T upstream_gene_variant MELA-AU 11 71705144 71705144 single base substitution C G downstream_gene_variant MELA-AU 11 71705144 71705144 single base substitution C G intron_variant MELA-AU 11 71705144 71705144 single base substitution C G upstream_gene_variant MELA-AU 11 71705264 71705264 single base substitution C T downstream_gene_variant MELA-AU 11 71705264 71705264 single base substitution C T intron_variant MELA-AU 11 71705264 71705264 single base substitution C T upstream_gene_variant MELA-AU 11 71705284 71705284 single base substitution C T downstream_gene_variant MELA-AU 11 71705284 71705284 single base substitution C T intron_variant MELA-AU 11 71705284 71705284 single base substitution C T upstream_gene_variant MELA-AU 11 71705367 71705367 single base substitution G A downstream_gene_variant MELA-AU 11 71705367 71705367 single base substitution G A intron_variant MELA-AU 11 71705367 71705367 single base substitution G A upstream_gene_variant MELA-AU 11 71705397 71705397 single base substitution C T downstream_gene_variant MELA-AU 11 71705397 71705397 single base substitution C T intron_variant MELA-AU 11 71705397 71705397 single base substitution C T upstream_gene_variant MELA-AU 11 71705455 71705455 single base substitution C T downstream_gene_variant MELA-AU 11 71705455 71705455 single base substitution C T intron_variant MELA-AU 11 71705455 71705455 single base substitution C T upstream_gene_variant MELA-AU 11 71705461 71705461 single base substitution C T downstream_gene_variant MELA-AU 11 71705461 71705461 single base substitution C T intron_variant MELA-AU 11 71705461 71705461 single base substitution C T upstream_gene_variant MELA-AU 11 71705932 71705932 single base substitution C T downstream_gene_variant MELA-AU 11 71705932 71705932 single base substitution C T intron_variant MELA-AU 11 71705932 71705932 single base substitution C T upstream_gene_variant MELA-AU 11 71706382 71706383 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 11 71706382 71706383 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 11 71706382 71706383 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 71706811 71706811 single base substitution C T downstream_gene_variant MELA-AU 11 71706811 71706811 single base substitution C T intron_variant MELA-AU 11 71706950 71706950 single base substitution C T downstream_gene_variant MELA-AU 11 71706950 71706950 single base substitution C T intron_variant MELA-AU 11 71707422 71707422 single base substitution C T 3_prime_UTR_variant MELA-AU 11 71707422 71707422 single base substitution C T downstream_gene_variant MELA-AU 11 71707422 71707422 single base substitution C T exon_variant MELA-AU 11 71708399 71708399 single base substitution C T 3_prime_UTR_variant MELA-AU 11 71708399 71708399 single base substitution C T downstream_gene_variant MELA-AU 11 71712289 71712289 single base substitution C T downstream_gene_variant MELA-AU 11 71712458 71712458 single base substitution C T downstream_gene_variant ORCA-IN 11 71659222 71659222 single base substitution C T intron_variant ORCA-IN 11 71661514 71661514 single base substitution C A intron_variant ORCA-IN 11 71670937 71670937 single base substitution C A intron_variant ORCA-IN 11 71677211 71677211 single base substitution G A intron_variant ORCA-IN 11 71695871 71695871 single base substitution G T downstream_gene_variant ORCA-IN 11 71695871 71695871 single base substitution G T intron_variant ORCA-IN 11 71706127 71706127 single base substitution G A downstream_gene_variant ORCA-IN 11 71706127 71706127 single base substitution G A intron_variant ORCA-IN 11 71706127 71706127 single base substitution G A upstream_gene_variant ORCA-IN 11 71709141 71709141 single base substitution A T downstream_gene_variant ORCA-IN 11 71710805 71710805 single base substitution G A downstream_gene_variant OV-AU 11 71660918 71660918 single base substitution C T intron_variant OV-AU 11 71663129 71663129 single base substitution G C intron_variant OV-AU 11 71670745 71670745 single base substitution G T intron_variant OV-AU 11 71670900 71670900 single base substitution G A intron_variant OV-AU 11 71671886 71671886 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant OV-AU 11 71671886 71671886 single base substitution G T exon_variant OV-AU 11 71671886 71671886 single base substitution G T synonymous_variant V32V 96G>T OV-AU 11 71671886 71671886 single base substitution G T synonymous_variant V64V 192G>T OV-AU 11 71675739 71675739 single base substitution G A intron_variant OV-AU 11 71677518 71677518 single base substitution G T intron_variant OV-AU 11 71680222 71680222 single base substitution C T intron_variant OV-AU 11 71697656 71697656 single base substitution A T downstream_gene_variant OV-AU 11 71697656 71697656 single base substitution A T intron_variant OV-AU 11 71708826 71708826 single base substitution C A downstream_gene_variant OV-AU 11 71710710 71710710 single base substitution T G downstream_gene_variant PACA-AU 11 71636225 71636225 single base substitution G C upstream_gene_variant PACA-AU 11 71637993 71637993 single base substitution G T upstream_gene_variant PACA-AU 11 71638560 71638560 single base substitution C A upstream_gene_variant PACA-AU 11 71650094 71650094 single base substitution G T intron_variant PACA-AU 11 71652286 71652286 single base substitution C T intron_variant PACA-AU 11 71652974 71652974 single base substitution G T intron_variant PACA-AU 11 71657163 71657163 deletion of <=200bp G - intron_variant PACA-AU 11 71657693 71657693 single base substitution G T intron_variant PACA-AU 11 71662876 71662876 single base substitution G T intron_variant PACA-AU 11 71665680 71665680 single base substitution A T intron_variant PACA-AU 11 71665680 71665680 single base substitution A T upstream_gene_variant PACA-AU 11 71672510 71672510 single base substitution G A intron_variant PACA-AU 11 71674204 71674204 single base substitution T C intron_variant PACA-AU 11 71684757 71684757 single base substitution C T intron_variant PACA-AU 11 71685725 71685725 single base substitution G C intron_variant PACA-AU 11 71686656 71686656 single base substitution G C intron_variant PACA-AU 11 71688696 71688696 single base substitution A C intron_variant PACA-AU 11 71691039 71691039 single base substitution C T intron_variant PACA-AU 11 71691039 71691039 single base substitution C T upstream_gene_variant PACA-AU 11 71691884 71691884 deletion of <=200bp A - intron_variant PACA-AU 11 71691884 71691884 deletion of <=200bp A - upstream_gene_variant PACA-AU 11 71693788 71693788 single base substitution G A intron_variant PACA-AU 11 71693788 71693788 single base substitution G A upstream_gene_variant PACA-AU 11 71698866 71698866 single base substitution G T downstream_gene_variant PACA-AU 11 71698866 71698866 single base substitution G T intron_variant PACA-AU 11 71705811 71705811 single base substitution T C 3_prime_UTR_variant PACA-AU 11 71705811 71705811 single base substitution T C downstream_gene_variant PACA-AU 11 71705811 71705811 single base substitution T C exon_variant PACA-AU 11 71705811 71705811 single base substitution T C intron_variant PACA-AU 11 71705811 71705811 single base substitution T C missense_variant V144A 431T>C PACA-AU 11 71705811 71705811 single base substitution T C missense_variant V193A 578T>C PACA-AU 11 71705811 71705811 single base substitution T C missense_variant V225A 674T>C PACA-AU 11 71705811 71705811 single base substitution T C missense_variant V65A 194T>C PACA-AU 11 71705811 71705811 single base substitution T C upstream_gene_variant PACA-AU 11 71713535 71713535 single base substitution C T downstream_gene_variant PACA-CA 11 71639803 71639803 single base substitution G A 5_prime_UTR_variant PACA-CA 11 71639803 71639803 single base substitution G A upstream_gene_variant PACA-CA 11 71639894 71639894 single base substitution C T 5_prime_UTR_variant PACA-CA 11 71639894 71639894 single base substitution C T upstream_gene_variant PACA-CA 11 71641207 71641207 single base substitution G A intron_variant PACA-CA 11 71641208 71641208 single base substitution A G intron_variant PACA-CA 11 71641547 71641547 single base substitution A G intron_variant PACA-CA 11 71642026 71642026 single base substitution G T intron_variant PACA-CA 11 71642979 71642979 single base substitution T C intron_variant PACA-CA 11 71645942 71645942 single base substitution T G intron_variant PACA-CA 11 71652767 71652767 single base substitution G C intron_variant PACA-CA 11 71653584 71653584 single base substitution G A intron_variant PACA-CA 11 71655308 71655308 single base substitution G T intron_variant PACA-CA 11 71658000 71658000 single base substitution G A intron_variant PACA-CA 11 71661118 71661118 deletion of <=200bp A - intron_variant PACA-CA 11 71662361 71662361 insertion of <=200bp - AAGT intron_variant PACA-CA 11 71662583 71662583 single base substitution G T intron_variant PACA-CA 11 71667977 71667977 single base substitution C T intron_variant PACA-CA 11 71667977 71667977 single base substitution C T upstream_gene_variant PACA-CA 11 71669751 71669751 deletion of <=200bp A - intron_variant PACA-CA 11 71671579 71671579 single base substitution A C intron_variant PACA-CA 11 71674874 71674874 single base substitution A G intron_variant PACA-CA 11 71676857 71676857 single base substitution A G intron_variant PACA-CA 11 71676884 71676884 single base substitution C G intron_variant PACA-CA 11 71679032 71679032 single base substitution C A intron_variant PACA-CA 11 71680539 71680539 insertion of <=200bp - T intron_variant PACA-CA 11 71682925 71682925 single base substitution G A intron_variant PACA-CA 11 71684557 71684557 single base substitution G A intron_variant PACA-CA 11 71689323 71689323 single base substitution T G intron_variant PACA-CA 11 71690311 71690311 single base substitution G A intron_variant PACA-CA 11 71690311 71690311 single base substitution G A upstream_gene_variant PACA-CA 11 71700942 71700942 single base substitution G T downstream_gene_variant PACA-CA 11 71700942 71700942 single base substitution G T intron_variant PACA-CA 11 71703329 71703331 deletion of <=200bp ACA - downstream_gene_variant PACA-CA 11 71703329 71703331 deletion of <=200bp ACA - intron_variant PACA-CA 11 71703329 71703331 deletion of <=200bp ACA - upstream_gene_variant PACA-CA 11 71703747 71703747 single base substitution C T downstream_gene_variant PACA-CA 11 71703747 71703747 single base substitution C T intron_variant PACA-CA 11 71703747 71703747 single base substitution C T upstream_gene_variant PACA-CA 11 71710574 71710574 single base substitution C G downstream_gene_variant PACA-CA 11 71710818 71710818 single base substitution G T downstream_gene_variant PAEN-IT 11 71636497 71636497 single base substitution C T upstream_gene_variant PAEN-IT 11 71681168 71681168 single base substitution C G intron_variant PAEN-IT 11 71704684 71704684 single base substitution G T downstream_gene_variant PAEN-IT 11 71704684 71704684 single base substitution G T intron_variant PAEN-IT 11 71704684 71704684 single base substitution G T upstream_gene_variant PBCA-DE 11 71640267 71640267 single base substitution G T intron_variant PBCA-DE 11 71643054 71643054 deletion of <=200bp G - intron_variant PBCA-DE 11 71647924 71647924 single base substitution C T intron_variant PBCA-DE 11 71656228 71656228 single base substitution C A intron_variant PBCA-DE 11 71657157 71657157 insertion of <=200bp - AAAAA intron_variant PBCA-DE 11 71690474 71690474 single base substitution T C intron_variant PBCA-DE 11 71690474 71690474 single base substitution T C upstream_gene_variant PBCA-DE 11 71698994 71698994 single base substitution G A downstream_gene_variant PBCA-DE 11 71698994 71698994 single base substitution G A intron_variant PRAD-CA 11 71668005 71668005 single base substitution G A intron_variant PRAD-CA 11 71668005 71668005 single base substitution G A upstream_gene_variant PRAD-CA 11 71707520 71707520 single base substitution G T 3_prime_UTR_variant PRAD-CA 11 71707520 71707520 single base substitution G T downstream_gene_variant PRAD-CA 11 71707520 71707520 single base substitution G T exon_variant PRAD-UK 11 71643518 71643518 single base substitution C G intron_variant PRAD-UK 11 71650301 71650301 deletion of <=200bp A - intron_variant PRAD-UK 11 71661999 71661999 single base substitution G T intron_variant PRAD-UK 11 71703291 71703291 single base substitution T C downstream_gene_variant PRAD-UK 11 71703291 71703291 single base substitution T C intron_variant PRAD-UK 11 71703291 71703291 single base substitution T C upstream_gene_variant PRAD-US 11 71671926 71671926 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant PRAD-US 11 71671926 71671926 single base substitution C T exon_variant PRAD-US 11 71671926 71671926 single base substitution C T missense_variant R46C 136C>T PRAD-US 11 71671926 71671926 single base substitution C T missense_variant R78C 232C>T READ-US 11 71712581 71712581 single base substitution G A downstream_gene_variant RECA-EU 11 71656341 71656341 single base substitution C A intron_variant RECA-EU 11 71667187 71667187 single base substitution C G intron_variant RECA-EU 11 71667187 71667187 single base substitution C G upstream_gene_variant RECA-EU 11 71693243 71693243 single base substitution G A intron_variant RECA-EU 11 71693243 71693243 single base substitution G A upstream_gene_variant RECA-EU 11 71693263 71693263 single base substitution T C intron_variant RECA-EU 11 71693263 71693263 single base substitution T C upstream_gene_variant RECA-EU 11 71698901 71698901 single base substitution G A downstream_gene_variant RECA-EU 11 71698901 71698901 single base substitution G A intron_variant RECA-EU 11 71703025 71703025 single base substitution C T downstream_gene_variant RECA-EU 11 71703025 71703025 single base substitution C T intron_variant RECA-EU 11 71703025 71703025 single base substitution C T upstream_gene_variant SKCA-BR 11 71646445 71646445 single base substitution C T intron_variant SKCA-BR 11 71646892 71646892 single base substitution C T intron_variant SKCA-BR 11 71647805 71647805 single base substitution C T intron_variant SKCA-BR 11 71649360 71649360 insertion of <=200bp - ATTT intron_variant SKCA-BR 11 71649396 71649396 single base substitution C T intron_variant SKCA-BR 11 71650597 71650597 single base substitution C T intron_variant SKCA-BR 11 71651524 71651524 single base substitution A C intron_variant SKCA-BR 11 71652396 71652396 single base substitution C T intron_variant SKCA-BR 11 71653829 71653829 single base substitution T G intron_variant SKCA-BR 11 71655583 71655583 single base substitution C T intron_variant SKCA-BR 11 71656140 71656140 single base substitution C T intron_variant SKCA-BR 11 71658880 71658880 single base substitution A G intron_variant SKCA-BR 11 71668226 71668226 single base substitution A G intron_variant SKCA-BR 11 71668226 71668226 single base substitution A G upstream_gene_variant SKCA-BR 11 71668253 71668253 single base substitution C T intron_variant SKCA-BR 11 71668253 71668253 single base substitution C T upstream_gene_variant SKCA-BR 11 71674104 71674104 single base substitution T A intron_variant SKCA-BR 11 71679919 71679919 single base substitution C T intron_variant SKCA-BR 11 71685853 71685853 single base substitution C T intron_variant SKCA-BR 11 71686147 71686147 single base substitution C T intron_variant SKCA-BR 11 71689485 71689485 single base substitution C T intron_variant SKCA-BR 11 71695353 71695353 single base substitution C T downstream_gene_variant SKCA-BR 11 71695353 71695353 single base substitution C T intron_variant SKCA-BR 11 71696987 71696987 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 11 71696987 71696987 insertion of <=200bp - CA intron_variant SKCA-BR 11 71699927 71699927 single base substitution C T downstream_gene_variant SKCA-BR 11 71699927 71699927 single base substitution C T intron_variant SKCA-BR 11 71701019 71701019 single base substitution G C downstream_gene_variant SKCA-BR 11 71701019 71701019 single base substitution G C intron_variant SKCA-BR 11 71701532 71701532 single base substitution C T downstream_gene_variant SKCA-BR 11 71701532 71701532 single base substitution C T intron_variant SKCA-BR 11 71701532 71701532 single base substitution C T upstream_gene_variant SKCA-BR 11 71701932 71701932 single base substitution A C downstream_gene_variant SKCA-BR 11 71701932 71701932 single base substitution A C intron_variant SKCA-BR 11 71701932 71701932 single base substitution A C upstream_gene_variant SKCA-BR 11 71702431 71702431 single base substitution A G downstream_gene_variant SKCA-BR 11 71702431 71702431 single base substitution A G intron_variant SKCA-BR 11 71702431 71702431 single base substitution A G upstream_gene_variant SKCM-US 11 71671826 71671826 single base substitution C T 5_prime_UTR_variant SKCM-US 11 71671826 71671826 single base substitution C T exon_variant SKCM-US 11 71671826 71671826 single base substitution C T synonymous_variant H12H 36C>T SKCM-US 11 71671826 71671826 single base substitution C T synonymous_variant H44H 132C>T SKCM-US 11 71693837 71693837 single base substitution C T 3_prime_UTR_variant SKCM-US 11 71693837 71693837 single base substitution C T exon_variant SKCM-US 11 71693837 71693837 single base substitution C T intron_variant SKCM-US 11 71693837 71693837 single base substitution C T missense_variant P11S 31C>T SKCM-US 11 71693837 71693837 single base substitution C T missense_variant P60S 178C>T SKCM-US 11 71693837 71693837 single base substitution C T missense_variant P92S 274C>T SKCM-US 11 71693837 71693837 single base substitution C T upstream_gene_variant SKCM-US 11 71711488 71711488 single base substitution C T downstream_gene_variant STAD-US 11 71698147 71698149 deletion of <=200bp TTA - 3_prime_UTR_variant STAD-US 11 71698147 71698149 deletion of <=200bp TTA - downstream_gene_variant STAD-US 11 71698147 71698149 deletion of <=200bp TTA - exon_variant STAD-US 11 71698147 71698149 deletion of <=200bp TTA - inframe_deletion L134 STAD-US 11 71698147 71698149 deletion of <=200bp TTA - inframe_deletion L166 STAD-US 11 71698147 71698149 deletion of <=200bp TTA - inframe_deletion L85 STAD-US 11 71698147 71698149 deletion of <=200bp TTA - intron_variant STAD-US 11 71705779 71705779 single base substitution G A 3_prime_UTR_variant STAD-US 11 71705779 71705779 single base substitution G A downstream_gene_variant STAD-US 11 71705779 71705779 single base substitution G A exon_variant STAD-US 11 71705779 71705779 single base substitution G A intron_variant STAD-US 11 71705779 71705779 single base substitution G A synonymous_variant S133S 399G>A STAD-US 11 71705779 71705779 single base substitution G A synonymous_variant S182S 546G>A STAD-US 11 71705779 71705779 single base substitution G A synonymous_variant S214S 642G>A STAD-US 11 71705779 71705779 single base substitution G A synonymous_variant S54S 162G>A STAD-US 11 71705779 71705779 single base substitution G A upstream_gene_variant STAD-US 11 71705854 71705854 single base substitution A C 3_prime_UTR_variant STAD-US 11 71705854 71705854 single base substitution A C downstream_gene_variant STAD-US 11 71705854 71705854 single base substitution A C intron_variant STAD-US 11 71705854 71705854 single base substitution A C missense_variant E158D 474A>C STAD-US 11 71705854 71705854 single base substitution A C missense_variant E207D 621A>C STAD-US 11 71705854 71705854 single base substitution A C missense_variant E239D 717A>C STAD-US 11 71705854 71705854 single base substitution A C missense_variant E79D 237A>C STAD-US 11 71705854 71705854 single base substitution A C upstream_gene_variant UCEC-US 11 71671806 71671806 single base substitution G A 5_prime_UTR_variant UCEC-US 11 71671806 71671806 single base substitution G A exon_variant UCEC-US 11 71671806 71671806 single base substitution G A missense_variant A38T 112G>A UCEC-US 11 71671806 71671806 single base substitution G A missense_variant A6T 16G>A UCEC-US 11 71701700 71701700 single base substitution C A 3_prime_UTR_variant UCEC-US 11 71701700 71701700 single base substitution C A downstream_gene_variant UCEC-US 11 71701700 71701700 single base substitution C A exon_variant UCEC-US 11 71701700 71701700 single base substitution C A intron_variant UCEC-US 11 71701700 71701700 single base substitution C A stop_gained Y107* 321C>A UCEC-US 11 71701700 71701700 single base substitution C A stop_gained Y156* 468C>A UCEC-US 11 71701700 71701700 single base substitution C A stop_gained Y188* 564C>A UCEC-US 11 71701700 71701700 single base substitution C A upstream_gene_variant UCEC-US 11 71701743 71701743 single base substitution T C 3_prime_UTR_variant UCEC-US 11 71701743 71701743 single base substitution T C downstream_gene_variant UCEC-US 11 71701743 71701743 single base substitution T C exon_variant UCEC-US 11 71701743 71701743 single base substitution T C intron_variant UCEC-US 11 71701743 71701743 single base substitution T C missense_variant Y122H 364T>C UCEC-US 11 71701743 71701743 single base substitution T C missense_variant Y171H 511T>C UCEC-US 11 71701743 71701743 single base substitution T C missense_variant Y203H 607T>C UCEC-US 11 71701743 71701743 single base substitution T C upstream_gene_variant UCEC-US 11 71705778 71705778 single base substitution C T 3_prime_UTR_variant UCEC-US 11 71705778 71705778 single base substitution C T downstream_gene_variant UCEC-US 11 71705778 71705778 single base substitution C T exon_variant UCEC-US 11 71705778 71705778 single base substitution C T intron_variant UCEC-US 11 71705778 71705778 single base substitution C T missense_variant S133L 398C>T UCEC-US 11 71705778 71705778 single base substitution C T missense_variant S182L 545C>T UCEC-US 11 71705778 71705778 single base substitution C T missense_variant S214L 641C>T UCEC-US 11 71705778 71705778 single base substitution C T missense_variant S54L 161C>T UCEC-US 11 71705778 71705778 single base substitution C T upstream_gene_variant UCEC-US 11 71707391 71707391 single base substitution C A 3_prime_UTR_variant UCEC-US 11 71707391 71707391 single base substitution C A downstream_gene_variant UCEC-US 11 71707391 71707391 single base substitution C A exon_variant UCEC-US 11 71711534 71711534 single base substitution C T downstream_gene_variant UCEC-US 11 71712523 71712523 single base substitution C T downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-29-1691-01 COSM1322193 c.393C>G p.T131T Substitution - coding silent 11:71982910-71982910 + TCGA-BG-A0M8-01 COSM931611 c.71T>A p.M24K Substitution - Missense 11:71957234-71957234 + T578 COSM931616 c.641C>T p.S214L Substitution - Missense 11:71994732-71994732 + TCGA-39-5031-01 COSM690070 c.855C>T p.F285F Substitution - coding silent 11:71995543-71995543 + STC246 COSM5051116 c.580C>T p.R194W Substitution - Missense 11:71990670-71990670 + AOCS-064-1-6 COSM3980651 c.192G>T p.V64V Substitution - coding silent 11:71960840-71960840 + PD14465a COSM5801866 c.496_498delTTA p.L167delL Deletion - In frame 11:71987101-71987103 + I2L-P7-Tumor-Organoid COSM5361156 c.864C>A p.P288P Substitution - coding silent 11:71996195-71996195 + TCGA-KK-A59Y-01 COSM4877932 c.232C>T p.R78C Substitution - Missense 11:71960880-71960880 + TCGA-FR-A3YO-06 COSM3452954 c.132C>T p.H44H Substitution - coding silent 11:71960780-71960780 + TCGA-A5-A0GP-01 COSM931616 c.641C>T p.S214L Substitution - Missense 11:71994732-71994732 + 2171677 COSM4423465 c.293A>G p.K98R Substitution - Missense 11:71982810-71982810 + BK0006 COSM4185606 c.413G>A p.W138* Substitution - Nonsense 11:71987018-71987018 + sysucc-834T COSM5485503 c.370C>T p.R124* Substitution - Nonsense 11:71982887-71982887 + CN-AML-08-T COSM5425978 c.627G>A p.G209G Substitution - coding silent 11:71990717-71990717 + TCGA-AA-3815-01 COSM5110443 c.762-9G>A p.? Unknown 11:71995441-71995441 + TCGA-AA-3710-01 COSM5104670 c.627+10T>C p.? Unknown 11:71990727-71990727 + CSCC-29-T COSM4508397 c.774C>T p.F258F Substitution - coding silent 11:71995462-71995462 + TCGA-BR-4256-01 COSM4036412 c.717A>C p.E239D Substitution - Missense 11:71994808-71994808 + TCGA-39-5022-01 COSM690071 c.91G>C p.E31Q Substitution - Missense 11:71957254-71957254 + TCGA-D1-A165-01 COSM931615 c.607T>C p.Y203H Substitution - Missense 11:71990697-71990697 + SJOS004_D COSM5024177 c.135T>G p.R45R Substitution - coding silent 11:71960783-71960783 + CHEWS001 COSM4574766 c.105C>T p.V35V Substitution - coding silent 11:71960753-71960753 + Pat_74_A COSM5839528 c.688delG p.Q231fs*49 Deletion - Frameshift 11:71994779-71994779 + TCGA-FJ-A3Z7-01 COSM690071 c.91G>C p.E31Q Substitution - Missense 11:71957254-71957254 + SC_9001 COSM931616 c.641C>T p.S214L Substitution - Missense 11:71994732-71994732 + T31 COSM5619273 c.96A>G p.Q32Q Substitution - coding silent 11:71957259-71957259 + TCGA-B5-A11O-01 COSM931613 c.340G>T p.V114F Substitution - Missense 11:71982857-71982857 + TCGA-C4-A0F6-01 COSM415750 c.483C>T p.L161L Substitution - coding silent 11:71987088-71987088 + TCGA-UB-A7MB-01 COSM4932918 c.717A>G p.E239E Substitution - coding silent 11:71994808-71994808 + TCGA-CJ-5672-01 COSM467377 c.895C>A p.L299M Substitution - Missense 11:71996226-71996226 + sysucc-1317T COSM5448258 c.178G>A p.A60T Substitution - Missense 11:71960826-71960826 + TCGA-AP-A059-01 COSM931612 c.112G>A p.A38T Substitution - Missense 11:71960760-71960760 + TCGA-A2-A0SY-01 COSM429794 c.804G>C p.K268N Substitution - Missense 11:71995492-71995492 + S00837 COSM314835 c.562T>C p.Y188H Substitution - Missense 11:71990652-71990652 + TCGA-EE-A181-06 COSM3452955 c.274C>T p.P92S Substitution - Missense 11:71982791-71982791 + ORL-48 COSM4596733 c.952C>G p.Q318E Substitution - Missense 11:71996283-71996283 + CN-AML-NR-08-Dx COSM5425978 c.627G>A p.G209G Substitution - coding silent 11:71990717-71990717 + TCGA-AP-A0LM-01 COSM931614 c.564C>A p.Y188* Substitution - Nonsense 11:71990654-71990654 + RK229_C01 COSM4780376 c.461A>G p.Y154C Substitution - Missense 11:71987066-71987066 + TCGA-CJ-5671-01 COSM467376 c.244A>T p.M82L Substitution - Missense 11:71982761-71982761 + 587342 COSM1223888 c.233G>A p.R78H Substitution - Missense 11:71960881-71960881 + 8033414 COSM3383801 c.674T>C p.V225A Substitution - Missense 11:71994765-71994765 + TCGA-CM-5861-01 COSM5157876 c.133C>A p.R45S Substitution - Missense 11:71960781-71960781 + TCGA-BR-8487-01 COSM4036411 c.642G>A p.S214S Substitution - coding silent 11:71994733-71994733 + AOCS-064-3-3 COSM3980651 c.192G>T p.V64V Substitution - coding silent 11:71960840-71960840 + HCC049T COSM5812085 c.969C>A p.I323I Substitution - coding silent 11:71996300-71996300 + TCGA-AA-3833-01 COSM271504 c.133C>T p.R45C Substitution - Missense 11:71960781-71960781 + TCGA-DD-A39Y-01 COSM4934467 c.147T>C p.A49A Substitution - coding silent 11:71960795-71960795 + TCGA-UC-A7PF-01 COSM4830397 c.730G>C p.E244Q Substitution - Missense 11:71994821-71994821 + sysucc-783T COSM5483658 c.166C>A p.L56I Substitution - Missense 11:71960814-71960814 + S00837 COSM314835 c.562T>C p.Y188H Substitution - Missense 11:71990652-71990652 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.368554 11q13.4

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.E239D c.717A>C 11 71705854 STAD A G IntronicSNV . c.243+8414A>G 11 71680351 CLL A G Missense p.M176V c.526A>G 11 71701662 LUAD A - IntronicDeletion . c.399-215delA 11 71697816 CM C A Missense p.L299M c.895C>A 11 71707272 RCCC C G IntronicSNV . c.398+757C>G 11 71694718 HC C T IntronicSNV . c.627+18C>T 11 71701781 CM C T Missense p.P92S c.274C>T 11 71693837 CM C T Missense p.R78C c.232C>T 11 71671926 PRAD C T Missense p.S214L c.641C>T 11 71705778 UCEC C T Synonymous p.F285F c.855C>T 11 71706589 LUSC C T Synonymous p.I260I c.780C>T 11 71706514 CM C T Synonymous p.L161L c.483C>T 11 71698134 BLCA G A Missense p.A38T c.112G>A 11 71671806 LGG G C Missense p.E31Q c.91G>C 11 71668300 LUSC G C Missense p.K268N c.804G>C 11 71706538 BRCA G T Missense p.W102C c.306G>T 11 71693869 LUAD G T Missense p.W89L c.266G>T 11 71693829 STAD T C Missense p.Y188H c.562T>C 11 71701698 SCLC T C Missense p.Y203H c.607T>C 11 71701743 UCEC