Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 11 93471576 93471576 + Missense_Mutation SNP A A C TCGA-OR-A5K5-01A-11D-A29I-10 TCGA-OR-A5K5-10A-01D-A29L-10 g.chr11:93471576A>C c.158T>G c.(157-159)gTt>gGt p.V53G BLCA 11 93470346 93470346 + Silent SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 g.chr11:93470346C>T c.519G>A c.(517-519)ctG>ctA p.L173L BLCA 11 93471426 93471426 + Missense_Mutation SNP C C A TCGA-UY-A78K-01A-11D-A339-08 TCGA-UY-A78K-10A-01D-A339-08 g.chr11:93471426C>A c.308G>T c.(307-309)gGa>gTa p.G103V BLCA 11 93471479 93471479 + Missense_Mutation SNP C C G TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 g.chr11:93471479C>G c.255G>C c.(253-255)aaG>aaC p.K85N BLCA 11 93471531 93471531 + Nonsense_Mutation SNP G G T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 g.chr11:93471531G>T c.203C>A c.(202-204)tCa>tAa p.S68* BLCA 11 93471565 93471565 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 g.chr11:93471565C>T c.169G>A c.(169-171)Gaa>Aaa p.E57K CHOL 11 93469419 93469419 + Missense_Mutation SNP A A C TCGA-W5-AA39-01A-11D-A417-09 TCGA-W5-AA39-10A-01D-A41A-09 g.chr11:93469419A>C c.745T>G c.(745-747)Tta>Gta p.L249V COAD 11 93470258 93470260 + In_Frame_Del DEL CAT CAT - TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr11:93470258_93470260delCAT c.605_607delATG c.(604-609)gatgga>gga p.D202del COAD 11 93471365 93471365 + Missense_Mutation SNP C C A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr11:93471365C>A c.369G>T c.(367-369)aaG>aaT p.K123N COAD 11 93471368 93471368 + Silent SNP C C T TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr11:93471368C>T c.366G>A c.(364-366)aaG>aaA p.K122K COAD 11 93471453 93471453 + Frame_Shift_Del DEL T T - TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr11:93471453delT c.281delA c.(280-282)aagfs p.K96fs COADREAD 11 93470258 93470260 + In_Frame_Del DEL CAT CAT - TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr11:93470258_93470260delCAT c.605_607delATG c.(604-609)gatgga>gga p.D202del COADREAD 11 93471365 93471365 + Missense_Mutation SNP C C A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr11:93471365C>A c.369G>T c.(367-369)aaG>aaT p.K123N COADREAD 11 93471368 93471368 + Silent SNP C C T TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr11:93471368C>T c.366G>A c.(364-366)aaG>aaA p.K122K COADREAD 11 93471453 93471453 + Frame_Shift_Del DEL T T - TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr11:93471453delT c.281delA c.(280-282)aagfs p.K96fs ESCA 11 93469859 93469859 + Splice_Site SNP C C G TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 g.chr11:93469859C>G c.e5+1 GBMLGG 11 93470275 93470275 + Missense_Mutation SNP T T G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr11:93470275T>G c.590A>C c.(589-591)aAa>aCa p.K197T HNSC 11 93472441 93472441 + Missense_Mutation SNP G G C TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 g.chr11:93472441G>C c.30C>G c.(28-30)gaC>gaG p.D10E KICH 11 93471453 93471453 + Frame_Shift_Del DEL T T - TCGA-KL-8338-01A-11D-2310-10 TCGA-KL-8338-11A-01D-2310-10 g.chr11:93471453delT c.281delA c.(280-282)aagfs p.K96fs KIPAN 11 93470348 93470348 + Missense_Mutation SNP G G C TCGA-CJ-4894-01A-01D-1373-10 TCGA-CJ-4894-11A-01D-1373-10 g.chr11:93470348G>C c.517C>G c.(517-519)Ctg>Gtg p.L173V KIPAN 11 93471453 93471453 + Frame_Shift_Del DEL T T - TCGA-KL-8338-01A-11D-2310-10 TCGA-KL-8338-11A-01D-2310-10 g.chr11:93471453delT c.281delA c.(280-282)aagfs p.K96fs KIRC 11 93470348 93470348 + Missense_Mutation SNP G G C TCGA-CJ-4894-01A-01D-1373-10 TCGA-CJ-4894-11A-01D-1373-10 g.chr11:93470348G>C c.517C>G c.(517-519)Ctg>Gtg p.L173V LGG 11 93470275 93470275 + Missense_Mutation SNP T T G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr11:93470275T>G c.590A>C c.(589-591)aAa>aCa p.K197T LIHC 11 93471289 93471289 + Missense_Mutation SNP T T C TCGA-2Y-A9H9-01A-21D-A38X-10 TCGA-2Y-A9H9-10A-01D-A38X-10 g.chr11:93471289T>C c.445A>G c.(445-447)Att>Gtt p.I149V LIHC 11 93471382 93471382 + Missense_Mutation SNP A A G TCGA-ED-A459-01A-11D-A25V-10 TCGA-ED-A459-10A-01D-A25V-10 g.chr11:93471382A>G c.352T>C c.(352-354)Tca>Cca p.S118P LIHC 11 93471438 93471438 + Missense_Mutation SNP T T C TCGA-WQ-A9G7-01A-11D-A36X-10 TCGA-WQ-A9G7-10A-01D-A370-10 g.chr11:93471438T>C c.296A>G c.(295-297)tAc>tGc p.Y99C LIHC 11 93472409 93472409 + Missense_Mutation SNP T T C TCGA-ED-A4XI-01A-11D-A25V-10 TCGA-ED-A4XI-10A-01D-A25V-10 g.chr11:93472409T>C c.62A>G c.(61-63)aAt>aGt p.N21S LUAD 11 93469410 93469410 + Missense_Mutation SNP C C T TCGA-44-7661-01A-11D-2063-08 TCGA-44-7661-10A-01D-2063-08 g.chr11:93469410C>T c.754G>A c.(754-756)Gag>Aag p.E252K LUAD 11 93469869 93469869 + Missense_Mutation SNP G G C TCGA-55-6712-01A-11D-1855-08 TCGA-55-6712-10A-01D-1855-08 g.chr11:93469869G>C c.684C>G c.(682-684)atC>atG p.I228M LUAD 11 93471306 93471306 + Frame_Shift_Del DEL T T - TCGA-69-8253-01A-11D-2284-08 TCGA-69-8253-10A-01D-2284-08 g.chr11:93471306delT c.428delA c.(427-429)aacfs p.N143fs LUAD 11 93471430 93471430 + Missense_Mutation SNP T T A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 g.chr11:93471430T>A c.304A>T c.(304-306)Aca>Tca p.T102S PAAD 11 93471348 93471348 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr11:93471348C>A c.386G>T c.(385-387)aGa>aTa p.R129I PAAD 11 93471453 93471453 + Frame_Shift_Del DEL T T - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 g.chr11:93471453delT c.281delA c.(280-282)aagfs p.K96fs PRAD 11 93469412 93469412 + Missense_Mutation SNP T T G TCGA-Y6-A9XI-01A-11D-A41K-08 TCGA-Y6-A9XI-10A-01D-A41N-08 g.chr11:93469412T>G c.752A>C c.(751-753)gAa>gCa p.E251A PRAD 11 93471313 93471313 + Nonsense_Mutation SNP C C A TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 g.chr11:93471313C>A c.421G>T c.(421-423)Gaa>Taa p.E141* PRAD 11 93471453 93471453 + Frame_Shift_Del DEL T T - TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 g.chr11:93471453delT c.281delA c.(280-282)aagfs p.K96fs PRAD 11 93471531 93471531 + Missense_Mutation SNP G G A TCGA-EJ-5517-01A-01D-1576-08 TCGA-EJ-5517-10A-01D-1577-08 g.chr11:93471531G>A c.203C>T c.(202-204)tCa>tTa p.S68L

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 93470291 93470291 single base substitution C G 3_prime_UTR_variant BLCA-CN 11 93470291 93470291 single base substitution C G downstream_gene_variant BLCA-CN 11 93470291 93470291 single base substitution C G exon_variant BLCA-CN 11 93470291 93470291 single base substitution C G missense_variant D192H 574G>C BLCA-CN 11 93470291 93470291 single base substitution C G upstream_gene_variant BLCA-CN 11 93471543 93471543 single base substitution G A 3_prime_UTR_variant BLCA-CN 11 93471543 93471543 single base substitution G A downstream_gene_variant BLCA-CN 11 93471543 93471543 single base substitution G A exon_variant BLCA-CN 11 93471543 93471543 single base substitution G A intron_variant BLCA-CN 11 93471543 93471543 single base substitution G A missense_variant H99Y 295C>T BLCA-CN 11 93471543 93471543 single base substitution G A missense_variant S64L 191C>T BLCA-CN 11 93471543 93471543 single base substitution G A upstream_gene_variant BRCA-EU 11 93460615 93460619 deletion of <=200bp GTAAG - downstream_gene_variant BRCA-EU 11 93461197 93461197 single base substitution C G downstream_gene_variant BRCA-EU 11 93461670 93461670 single base substitution C T downstream_gene_variant BRCA-EU 11 93462736 93462736 single base substitution G C downstream_gene_variant BRCA-EU 11 93462973 93462973 single base substitution A G downstream_gene_variant BRCA-EU 11 93463061 93463061 single base substitution C T downstream_gene_variant BRCA-EU 11 93463412 93463412 single base substitution C G 3_prime_UTR_variant BRCA-EU 11 93463412 93463412 single base substitution C G downstream_gene_variant BRCA-EU 11 93463412 93463412 single base substitution C G exon_variant BRCA-EU 11 93465067 93465067 deletion of <=200bp A - downstream_gene_variant BRCA-EU 11 93465067 93465067 deletion of <=200bp A - exon_variant BRCA-EU 11 93465067 93465067 deletion of <=200bp A - intron_variant BRCA-EU 11 93465774 93465774 single base substitution T C downstream_gene_variant BRCA-EU 11 93465774 93465774 single base substitution T C exon_variant BRCA-EU 11 93465774 93465774 single base substitution T C intron_variant BRCA-EU 11 93465774 93465774 single base substitution T C upstream_gene_variant BRCA-EU 11 93465820 93465820 single base substitution G C downstream_gene_variant BRCA-EU 11 93465820 93465820 single base substitution G C exon_variant BRCA-EU 11 93465820 93465820 single base substitution G C intron_variant BRCA-EU 11 93465820 93465820 single base substitution G C upstream_gene_variant BRCA-EU 11 93465918 93465918 single base substitution C G downstream_gene_variant BRCA-EU 11 93465918 93465918 single base substitution C G exon_variant BRCA-EU 11 93465918 93465918 single base substitution C G intron_variant BRCA-EU 11 93465918 93465918 single base substitution C G upstream_gene_variant BRCA-EU 11 93466235 93466235 single base substitution G C 3_prime_UTR_variant BRCA-EU 11 93466235 93466235 single base substitution G C downstream_gene_variant BRCA-EU 11 93466235 93466235 single base substitution G C exon_variant BRCA-EU 11 93466235 93466235 single base substitution G C intron_variant BRCA-EU 11 93466235 93466235 single base substitution G C upstream_gene_variant BRCA-EU 11 93466655 93466655 single base substitution C T 3_prime_UTR_variant BRCA-EU 11 93466655 93466655 single base substitution C T downstream_gene_variant BRCA-EU 11 93466655 93466655 single base substitution C T exon_variant BRCA-EU 11 93466655 93466655 single base substitution C T intron_variant BRCA-EU 11 93466655 93466655 single base substitution C T upstream_gene_variant BRCA-EU 11 93467234 93467234 single base substitution T G downstream_gene_variant BRCA-EU 11 93467234 93467234 single base substitution T G exon_variant BRCA-EU 11 93467234 93467234 single base substitution T G intron_variant BRCA-EU 11 93467234 93467234 single base substitution T G upstream_gene_variant BRCA-EU 11 93467346 93467346 single base substitution A G downstream_gene_variant BRCA-EU 11 93467346 93467346 single base substitution A G exon_variant BRCA-EU 11 93467346 93467346 single base substitution A G intron_variant BRCA-EU 11 93467346 93467346 single base substitution A G upstream_gene_variant BRCA-EU 11 93467458 93467458 single base substitution A G downstream_gene_variant BRCA-EU 11 93467458 93467458 single base substitution A G exon_variant BRCA-EU 11 93467458 93467458 single base substitution A G intron_variant BRCA-EU 11 93467458 93467458 single base substitution A G upstream_gene_variant BRCA-EU 11 93470699 93470699 single base substitution C T downstream_gene_variant BRCA-EU 11 93470699 93470699 single base substitution C T intron_variant BRCA-EU 11 93470699 93470699 single base substitution C T upstream_gene_variant BRCA-EU 11 93471156 93471156 single base substitution G C downstream_gene_variant BRCA-EU 11 93471156 93471156 single base substitution G C intron_variant BRCA-EU 11 93471156 93471156 single base substitution G C upstream_gene_variant BRCA-EU 11 93471453 93471453 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU 11 93471453 93471453 deletion of <=200bp T - downstream_gene_variant BRCA-EU 11 93471453 93471453 deletion of <=200bp T - exon_variant BRCA-EU 11 93471453 93471453 deletion of <=200bp T - frameshift_variant K94 BRCA-EU 11 93471453 93471453 deletion of <=200bp T - intron_variant BRCA-EU 11 93471453 93471453 deletion of <=200bp T - upstream_gene_variant BRCA-EU 11 93471855 93471855 single base substitution T A downstream_gene_variant BRCA-EU 11 93471855 93471855 single base substitution T A intron_variant BRCA-EU 11 93471855 93471855 single base substitution T A upstream_gene_variant BRCA-EU 11 93474751 93474751 single base substitution A G 5_prime_UTR_variant BRCA-EU 11 93474751 93474751 single base substitution A G intron_variant BRCA-EU 11 93474751 93474751 single base substitution A G upstream_gene_variant BRCA-EU 11 93475710 93475710 single base substitution C T intron_variant BRCA-EU 11 93475710 93475710 single base substitution C T upstream_gene_variant BRCA-EU 11 93477096 93477096 single base substitution G A intron_variant BRCA-EU 11 93477096 93477096 single base substitution G A upstream_gene_variant BRCA-EU 11 93477508 93477512 deletion of <=200bp AAACG - intron_variant BRCA-EU 11 93477508 93477512 deletion of <=200bp AAACG - upstream_gene_variant BRCA-EU 11 93478272 93478272 single base substitution C T intron_variant BRCA-EU 11 93478272 93478272 single base substitution C T upstream_gene_variant BRCA-EU 11 93479337 93479337 single base substitution A C intron_variant BRCA-EU 11 93479337 93479337 single base substitution A C upstream_gene_variant BRCA-EU 11 93479392 93479392 single base substitution A G intron_variant BRCA-EU 11 93479392 93479392 single base substitution A G upstream_gene_variant BRCA-EU 11 93481119 93481119 deletion of <=200bp A - intron_variant BRCA-EU 11 93481182 93481182 single base substitution A G intron_variant BRCA-EU 11 93483836 93483836 single base substitution G T intron_variant BRCA-EU 11 93484394 93484394 single base substitution G A intron_variant BRCA-EU 11 93488474 93488474 single base substitution G C intron_variant BRCA-EU 11 93489762 93489762 single base substitution C G intron_variant BRCA-EU 11 93491433 93491433 single base substitution G C intron_variant BRCA-EU 11 93492057 93492057 single base substitution G A intron_variant BRCA-EU 11 93496781 93496781 single base substitution G T intron_variant BRCA-EU 11 93496898 93496898 single base substitution G A intron_variant BRCA-EU 11 93497859 93497859 single base substitution C G intron_variant BRCA-EU 11 93499127 93499127 single base substitution G A intron_variant BRCA-EU 11 93499221 93499221 single base substitution C T intron_variant BRCA-EU 11 93502844 93502844 single base substitution G A intron_variant BRCA-EU 11 93505577 93505577 single base substitution C T intron_variant BRCA-EU 11 93505579 93505579 single base substitution G A intron_variant BRCA-EU 11 93508833 93508833 single base substitution G C intron_variant BRCA-EU 11 93510132 93510132 single base substitution C T intron_variant BRCA-EU 11 93510172 93510172 single base substitution G C intron_variant BRCA-EU 11 93510657 93510657 insertion of <=200bp - A intron_variant BRCA-EU 11 93510689 93510689 single base substitution G A intron_variant BRCA-EU 11 93513032 93513032 single base substitution T C intron_variant BRCA-EU 11 93514885 93514885 single base substitution G C intron_variant BRCA-EU 11 93516205 93516205 deletion of <=200bp T - intron_variant BRCA-EU 11 93516723 93516723 single base substitution C A intron_variant BRCA-EU 11 93517389 93517389 single base substitution C T intron_variant BRCA-EU 11 93518611 93518611 deletion of <=200bp A - upstream_gene_variant BRCA-EU 11 93519344 93519344 single base substitution T C upstream_gene_variant BRCA-EU 11 93519672 93519672 single base substitution G C upstream_gene_variant BRCA-EU 11 93521266 93521266 single base substitution G C upstream_gene_variant BRCA-EU 11 93522081 93522081 deletion of <=200bp T - upstream_gene_variant BRCA-FR 11 93463061 93463061 single base substitution C T downstream_gene_variant BRCA-FR 11 93471156 93471156 single base substitution G C downstream_gene_variant BRCA-FR 11 93471156 93471156 single base substitution G C intron_variant BRCA-FR 11 93471156 93471156 single base substitution G C upstream_gene_variant BRCA-FR 11 93483836 93483836 single base substitution G T intron_variant BRCA-FR 11 93484006 93484006 single base substitution C A intron_variant BRCA-FR 11 93487642 93487642 single base substitution A G intron_variant BRCA-FR 11 93496898 93496898 single base substitution G A intron_variant BRCA-FR 11 93508833 93508833 single base substitution G C intron_variant BRCA-FR 11 93517283 93517283 single base substitution G A intron_variant BRCA-UK 11 93477096 93477096 single base substitution G A intron_variant BRCA-UK 11 93477096 93477096 single base substitution G A upstream_gene_variant BRCA-UK 11 93479337 93479337 single base substitution A C intron_variant BRCA-UK 11 93479337 93479337 single base substitution A C upstream_gene_variant BRCA-UK 11 93483519 93483519 single base substitution G T intron_variant BRCA-US 11 93460369 93460369 single base substitution G A downstream_gene_variant BRCA-US 11 93460372 93460372 single base substitution G A downstream_gene_variant BRCA-US 11 93460466 93460466 single base substitution G C downstream_gene_variant BRCA-US 11 93463081 93463081 single base substitution C T downstream_gene_variant BRCA-US 11 93466920 93466920 insertion of <=200bp - T downstream_gene_variant BRCA-US 11 93466920 93466920 insertion of <=200bp - T exon_variant BRCA-US 11 93466920 93466920 insertion of <=200bp - T intron_variant BRCA-US 11 93466920 93466920 insertion of <=200bp - T upstream_gene_variant BRCA-US 11 93493023 93493023 single base substitution C G intron_variant BTCA-JP 11 93460742 93460742 single base substitution G A downstream_gene_variant BTCA-JP 11 93461772 93461772 single base substitution A T downstream_gene_variant BTCA-JP 11 93462560 93462560 single base substitution C T downstream_gene_variant BTCA-JP 11 93462746 93462746 single base substitution C G downstream_gene_variant BTCA-JP 11 93463160 93463160 single base substitution T A 3_prime_UTR_variant BTCA-JP 11 93463160 93463160 single base substitution T A downstream_gene_variant BTCA-JP 11 93463674 93463674 single base substitution T C 3_prime_UTR_variant BTCA-JP 11 93463674 93463674 single base substitution T C downstream_gene_variant BTCA-JP 11 93463674 93463674 single base substitution T C intron_variant BTCA-JP 11 93466601 93466601 single base substitution G A 3_prime_UTR_variant BTCA-JP 11 93466601 93466601 single base substitution G A downstream_gene_variant BTCA-JP 11 93466601 93466601 single base substitution G A exon_variant BTCA-JP 11 93466601 93466601 single base substitution G A intron_variant BTCA-JP 11 93466601 93466601 single base substitution G A upstream_gene_variant BTCA-JP 11 93471281 93471281 single base substitution C A 3_prime_UTR_variant BTCA-JP 11 93471281 93471281 single base substitution C A downstream_gene_variant BTCA-JP 11 93471281 93471281 single base substitution C A exon_variant BTCA-JP 11 93471281 93471281 single base substitution C A intron_variant BTCA-JP 11 93471281 93471281 single base substitution C A synonymous_variant T151T 453G>T BTCA-JP 11 93471281 93471281 single base substitution C A upstream_gene_variant CESC-US 11 93461907 93461907 single base substitution G T downstream_gene_variant CESC-US 11 93461963 93461963 single base substitution G C downstream_gene_variant CESC-US 11 93463406 93463406 single base substitution G C 3_prime_UTR_variant CESC-US 11 93463406 93463406 single base substitution G C downstream_gene_variant CESC-US 11 93463406 93463406 single base substitution G C exon_variant CESC-US 11 93464199 93464199 single base substitution G A 3_prime_UTR_variant CESC-US 11 93464199 93464199 single base substitution G A downstream_gene_variant CESC-US 11 93464199 93464199 single base substitution G A exon_variant CESC-US 11 93464199 93464199 single base substitution G A intron_variant CESC-US 11 93464721 93464721 single base substitution C T downstream_gene_variant CESC-US 11 93464721 93464721 single base substitution C T intron_variant CESC-US 11 93487201 93487201 single base substitution G C intron_variant CESC-US 11 93517706 93517706 single base substitution C T upstream_gene_variant CESC-US 11 93517725 93517725 single base substitution G A upstream_gene_variant CLLE-ES 11 93476885 93476885 single base substitution T A intron_variant CLLE-ES 11 93476885 93476885 single base substitution T A upstream_gene_variant CLLE-ES 11 93485918 93485918 single base substitution T C intron_variant CLLE-ES 11 93491845 93491845 single base substitution C T intron_variant CLLE-ES 11 93495296 93495301 deletion of <=200bp AATATA - intron_variant CLLE-ES 11 93512563 93512563 single base substitution C T intron_variant COAD-US 11 93462669 93462669 single base substitution A G downstream_gene_variant COAD-US 11 93463062 93463062 single base substitution G A downstream_gene_variant COAD-US 11 93470258 93470260 deletion of <=200bp CAT - 3_prime_UTR_variant COAD-US 11 93470258 93470260 deletion of <=200bp CAT - disruptive_inframe_deletion DG202G COAD-US 11 93470258 93470260 deletion of <=200bp CAT - downstream_gene_variant COAD-US 11 93470258 93470260 deletion of <=200bp CAT - exon_variant COAD-US 11 93470258 93470260 deletion of <=200bp CAT - upstream_gene_variant COAD-US 11 93471368 93471368 single base substitution C T 3_prime_UTR_variant COAD-US 11 93471368 93471368 single base substitution C T downstream_gene_variant COAD-US 11 93471368 93471368 single base substitution C T exon_variant COAD-US 11 93471368 93471368 single base substitution C T intron_variant COAD-US 11 93471368 93471368 single base substitution C T synonymous_variant K122K 366G>A COAD-US 11 93471368 93471368 single base substitution C T upstream_gene_variant COAD-US 11 93471452 93471452 insertion of <=200bp - T 3_prime_UTR_variant COAD-US 11 93471452 93471452 insertion of <=200bp - T downstream_gene_variant COAD-US 11 93471452 93471452 insertion of <=200bp - T exon_variant COAD-US 11 93471452 93471452 insertion of <=200bp - T frameshift_variant K94K? COAD-US 11 93471452 93471452 insertion of <=200bp - T intron_variant COAD-US 11 93471452 93471452 insertion of <=200bp - T upstream_gene_variant COAD-US 11 93494710 93494710 deletion of <=200bp T - intron_variant COAD-US 11 93494782 93494782 single base substitution A G intron_variant COAD-US 11 93494804 93494804 single base substitution C A intron_variant COAD-US 11 93494833 93494833 single base substitution G A intron_variant COAD-US 11 93517874 93517874 single base substitution C G upstream_gene_variant COAD-US 11 93517886 93517886 single base substitution G C upstream_gene_variant COCA-CN 11 93465166 93465166 single base substitution A G downstream_gene_variant COCA-CN 11 93465166 93465166 single base substitution A G exon_variant COCA-CN 11 93465166 93465166 single base substitution A G intron_variant COCA-CN 11 93466361 93466361 single base substitution T C downstream_gene_variant COCA-CN 11 93466361 93466361 single base substitution T C exon_variant COCA-CN 11 93466361 93466361 single base substitution T C intron_variant COCA-CN 11 93466361 93466361 single base substitution T C upstream_gene_variant COCA-CN 11 93466909 93466909 single base substitution A G downstream_gene_variant COCA-CN 11 93466909 93466909 single base substitution A G exon_variant COCA-CN 11 93466909 93466909 single base substitution A G intron_variant COCA-CN 11 93466909 93466909 single base substitution A G upstream_gene_variant COCA-CN 11 93468523 93468523 single base substitution C A downstream_gene_variant COCA-CN 11 93468523 93468523 single base substitution C A exon_variant COCA-CN 11 93468523 93468523 single base substitution C A intron_variant COCA-CN 11 93468523 93468523 single base substitution C A upstream_gene_variant COCA-CN 11 93468576 93468576 single base substitution C T downstream_gene_variant COCA-CN 11 93468576 93468576 single base substitution C T exon_variant COCA-CN 11 93468576 93468576 single base substitution C T intron_variant COCA-CN 11 93468576 93468576 single base substitution C T upstream_gene_variant COCA-CN 11 93469441 93469441 single base substitution G A downstream_gene_variant COCA-CN 11 93469441 93469441 single base substitution G A exon_variant COCA-CN 11 93469441 93469441 single base substitution G A intron_variant COCA-CN 11 93469441 93469441 single base substitution G A synonymous_variant F241F 723C>T COCA-CN 11 93469441 93469441 single base substitution G A upstream_gene_variant COCA-CN 11 93474500 93474500 single base substitution C T 5_prime_UTR_variant COCA-CN 11 93474500 93474500 single base substitution C T exon_variant COCA-CN 11 93474500 93474500 single base substitution C T intron_variant COCA-CN 11 93474500 93474500 single base substitution C T missense_variant E54K 160G>A COCA-CN 11 93474500 93474500 single base substitution C T upstream_gene_variant COCA-CN 11 93474787 93474787 single base substitution G A 5_prime_UTR_variant COCA-CN 11 93474787 93474787 single base substitution G A intron_variant COCA-CN 11 93474787 93474787 single base substitution G A upstream_gene_variant COCA-CN 11 93480579 93480579 single base substitution C A intron_variant COCA-CN 11 93490219 93490219 single base substitution G C intron_variant COCA-CN 11 93490693 93490693 single base substitution C T intron_variant COCA-CN 11 93492978 93492978 single base substitution T A intron_variant COCA-CN 11 93504540 93504540 single base substitution T G intron_variant COCA-CN 11 93514849 93514849 single base substitution A G intron_variant ESAD-UK 11 93458231 93458231 single base substitution G A downstream_gene_variant ESAD-UK 11 93462843 93462843 single base substitution A G downstream_gene_variant ESAD-UK 11 93463460 93463460 single base substitution T C 3_prime_UTR_variant ESAD-UK 11 93463460 93463460 single base substitution T C downstream_gene_variant ESAD-UK 11 93463460 93463460 single base substitution T C exon_variant ESAD-UK 11 93464068 93464068 single base substitution T C 3_prime_UTR_variant ESAD-UK 11 93464068 93464068 single base substitution T C downstream_gene_variant ESAD-UK 11 93464068 93464068 single base substitution T C exon_variant ESAD-UK 11 93464068 93464068 single base substitution T C intron_variant ESAD-UK 11 93465064 93465064 single base substitution C A downstream_gene_variant ESAD-UK 11 93465064 93465064 single base substitution C A exon_variant ESAD-UK 11 93465064 93465064 single base substitution C A intron_variant ESAD-UK 11 93465214 93465214 single base substitution G C downstream_gene_variant ESAD-UK 11 93465214 93465214 single base substitution G C exon_variant ESAD-UK 11 93465214 93465214 single base substitution G C intron_variant ESAD-UK 11 93471554 93471554 single base substitution G T 3_prime_UTR_variant ESAD-UK 11 93471554 93471554 single base substitution G T downstream_gene_variant ESAD-UK 11 93471554 93471554 single base substitution G T exon_variant ESAD-UK 11 93471554 93471554 single base substitution G T intron_variant ESAD-UK 11 93471554 93471554 single base substitution G T missense_variant H60Q 180C>A ESAD-UK 11 93471554 93471554 single base substitution G T missense_variant T95K 284C>A ESAD-UK 11 93471554 93471554 single base substitution G T upstream_gene_variant ESAD-UK 11 93472449 93472449 single base substitution A G exon_variant ESAD-UK 11 93472449 93472449 single base substitution A G intron_variant ESAD-UK 11 93472449 93472449 single base substitution A G missense_variant S8P 22T>C ESAD-UK 11 93472449 93472449 single base substitution A G upstream_gene_variant ESAD-UK 11 93473360 93473360 single base substitution A C intron_variant ESAD-UK 11 93473360 93473360 single base substitution A C upstream_gene_variant ESAD-UK 11 93473960 93473960 single base substitution A G intron_variant ESAD-UK 11 93473960 93473960 single base substitution A G upstream_gene_variant ESAD-UK 11 93474034 93474034 single base substitution T C intron_variant ESAD-UK 11 93474034 93474034 single base substitution T C upstream_gene_variant ESAD-UK 11 93474830 93474830 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 11 93474830 93474830 single base substitution G C intron_variant ESAD-UK 11 93474830 93474830 single base substitution G C upstream_gene_variant ESAD-UK 11 93476517 93476517 single base substitution A G intron_variant ESAD-UK 11 93476517 93476517 single base substitution A G upstream_gene_variant ESAD-UK 11 93479049 93479049 single base substitution G A intron_variant ESAD-UK 11 93479049 93479049 single base substitution G A upstream_gene_variant ESAD-UK 11 93479372 93479372 insertion of <=200bp - AATTT intron_variant ESAD-UK 11 93479372 93479372 insertion of <=200bp - AATTT upstream_gene_variant ESAD-UK 11 93481253 93481253 single base substitution C T intron_variant ESAD-UK 11 93481875 93481875 single base substitution G T intron_variant ESAD-UK 11 93487369 93487369 single base substitution A G intron_variant ESAD-UK 11 93488773 93488773 single base substitution C T intron_variant ESAD-UK 11 93490291 93490291 insertion of <=200bp - TG intron_variant ESAD-UK 11 93491148 93491148 single base substitution G A intron_variant ESAD-UK 11 93491734 93491734 single base substitution C T intron_variant ESAD-UK 11 93491811 93491811 single base substitution C T intron_variant ESAD-UK 11 93492499 93492499 single base substitution A C intron_variant ESAD-UK 11 93493988 93493988 single base substitution C A intron_variant ESAD-UK 11 93496631 93496631 single base substitution C G intron_variant ESAD-UK 11 93497617 93497617 single base substitution T C intron_variant ESAD-UK 11 93498792 93498792 single base substitution C G intron_variant ESAD-UK 11 93499390 93499390 single base substitution T A intron_variant ESAD-UK 11 93499805 93499805 single base substitution C G intron_variant ESAD-UK 11 93506532 93506532 single base substitution C T intron_variant ESAD-UK 11 93507349 93507349 single base substitution T C intron_variant ESAD-UK 11 93507357 93507357 single base substitution G A intron_variant ESAD-UK 11 93509186 93509186 single base substitution C A intron_variant ESAD-UK 11 93510752 93510752 single base substitution C T intron_variant ESAD-UK 11 93513208 93513208 single base substitution T G intron_variant ESAD-UK 11 93516205 93516205 single base substitution T A intron_variant ESAD-UK 11 93517815 93517815 single base substitution C T upstream_gene_variant ESAD-UK 11 93518236 93518236 single base substitution G C upstream_gene_variant ESAD-UK 11 93518504 93518504 single base substitution C T upstream_gene_variant KIRC-US 11 93470348 93470348 single base substitution G C 3_prime_UTR_variant KIRC-US 11 93470348 93470348 single base substitution G C downstream_gene_variant KIRC-US 11 93470348 93470348 single base substitution G C exon_variant KIRC-US 11 93470348 93470348 single base substitution G C missense_variant L173V 517C>G KIRC-US 11 93470348 93470348 single base substitution G C upstream_gene_variant KIRC-US 11 93483575 93483575 single base substitution A G intron_variant KIRC-US 11 93521254 93521254 single base substitution A G upstream_gene_variant LIAD-FR 11 93460619 93460619 single base substitution G T downstream_gene_variant LICA-FR 11 93459276 93459276 insertion of <=200bp - T downstream_gene_variant LICA-FR 11 93473381 93473381 insertion of <=200bp - CTGA intron_variant LICA-FR 11 93473381 93473381 insertion of <=200bp - CTGA upstream_gene_variant LICA-FR 11 93494775 93494775 single base substitution A T intron_variant LIHC-US 11 93462654 93462654 single base substitution G A downstream_gene_variant LIHC-US 11 93471382 93471382 single base substitution A G 3_prime_UTR_variant LIHC-US 11 93471382 93471382 single base substitution A G downstream_gene_variant LIHC-US 11 93471382 93471382 single base substitution A G exon_variant LIHC-US 11 93471382 93471382 single base substitution A G intron_variant LIHC-US 11 93471382 93471382 single base substitution A G missense_variant S118P 352T>C LIHC-US 11 93471382 93471382 single base substitution A G upstream_gene_variant LIHC-US 11 93472409 93472409 single base substitution T C downstream_gene_variant LIHC-US 11 93472409 93472409 single base substitution T C exon_variant LIHC-US 11 93472409 93472409 single base substitution T C intron_variant LIHC-US 11 93472409 93472409 single base substitution T C missense_variant N21S 62A>G LIHC-US 11 93472409 93472409 single base substitution T C upstream_gene_variant LIHC-US 11 93494680 93494680 single base substitution G A intron_variant LINC-JP 11 93458755 93458755 deletion of <=200bp T - downstream_gene_variant LINC-JP 11 93459028 93459028 single base substitution T G downstream_gene_variant LINC-JP 11 93460389 93460389 single base substitution T G downstream_gene_variant LINC-JP 11 93462613 93462613 single base substitution T G downstream_gene_variant LINC-JP 11 93462645 93462669 deletion of <=200bp TATCCAGCTGTATCAGAACTTTCCA - downstream_gene_variant LINC-JP 11 93462676 93462676 single base substitution A G downstream_gene_variant LINC-JP 11 93462756 93462756 single base substitution C A downstream_gene_variant LINC-JP 11 93462889 93462889 single base substitution T A downstream_gene_variant LINC-JP 11 93463530 93463530 single base substitution T C 3_prime_UTR_variant LINC-JP 11 93463530 93463530 single base substitution T C downstream_gene_variant LINC-JP 11 93463530 93463530 single base substitution T C exon_variant LINC-JP 11 93464133 93464133 single base substitution T C 3_prime_UTR_variant LINC-JP 11 93464133 93464133 single base substitution T C downstream_gene_variant LINC-JP 11 93464133 93464133 single base substitution T C exon_variant LINC-JP 11 93464133 93464133 single base substitution T C intron_variant LINC-JP 11 93464978 93464978 single base substitution T C downstream_gene_variant LINC-JP 11 93464978 93464978 single base substitution T C exon_variant LINC-JP 11 93464978 93464978 single base substitution T C intron_variant LINC-JP 11 93468266 93468266 single base substitution T C downstream_gene_variant LINC-JP 11 93468266 93468266 single base substitution T C exon_variant LINC-JP 11 93468266 93468266 single base substitution T C intron_variant LINC-JP 11 93468266 93468266 single base substitution T C upstream_gene_variant LINC-JP 11 93468456 93468456 single base substitution T C downstream_gene_variant LINC-JP 11 93468456 93468456 single base substitution T C exon_variant LINC-JP 11 93468456 93468456 single base substitution T C intron_variant LINC-JP 11 93468456 93468456 single base substitution T C upstream_gene_variant LINC-JP 11 93471468 93471468 single base substitution T G 3_prime_UTR_variant LINC-JP 11 93471468 93471468 single base substitution T G downstream_gene_variant LINC-JP 11 93471468 93471468 single base substitution T G exon_variant LINC-JP 11 93471468 93471468 single base substitution T G intron_variant LINC-JP 11 93471468 93471468 single base substitution T G missense_variant K89T 266A>C LINC-JP 11 93471468 93471468 single base substitution T G upstream_gene_variant LINC-JP 11 93480709 93480709 single base substitution G C intron_variant LINC-JP 11 93483723 93483723 single base substitution A G intron_variant LINC-JP 11 93484269 93484269 single base substitution C A intron_variant LINC-JP 11 93486666 93486666 single base substitution T G intron_variant LINC-JP 11 93487262 93487262 single base substitution T A intron_variant LINC-JP 11 93489215 93489215 single base substitution C T intron_variant LINC-JP 11 93489357 93489357 single base substitution G A intron_variant LINC-JP 11 93493289 93493289 single base substitution A G intron_variant LINC-JP 11 93521113 93521113 single base substitution C A upstream_gene_variant LINC-JP 11 93521516 93521516 single base substitution C T upstream_gene_variant LINC-JP 11 93522354 93522354 single base substitution A G upstream_gene_variant LIRI-JP 11 93458371 93458371 single base substitution C T downstream_gene_variant LIRI-JP 11 93458667 93458667 single base substitution T C downstream_gene_variant LIRI-JP 11 93458968 93458968 single base substitution A T downstream_gene_variant LIRI-JP 11 93459609 93459609 single base substitution A G downstream_gene_variant LIRI-JP 11 93460289 93460289 single base substitution C G downstream_gene_variant LIRI-JP 11 93463317 93463317 single base substitution G T 3_prime_UTR_variant LIRI-JP 11 93463317 93463317 single base substitution G T downstream_gene_variant LIRI-JP 11 93463584 93463584 deletion of <=200bp G - 3_prime_UTR_variant LIRI-JP 11 93463584 93463584 deletion of <=200bp G - downstream_gene_variant LIRI-JP 11 93463584 93463584 deletion of <=200bp G - exon_variant LIRI-JP 11 93463840 93463840 single base substitution T C 3_prime_UTR_variant LIRI-JP 11 93463840 93463840 single base substitution T C downstream_gene_variant LIRI-JP 11 93463840 93463840 single base substitution T C exon_variant LIRI-JP 11 93463840 93463840 single base substitution T C splice_region_variant LIRI-JP 11 93464245 93464245 single base substitution T C 3_prime_UTR_variant LIRI-JP 11 93464245 93464245 single base substitution T C downstream_gene_variant LIRI-JP 11 93464245 93464245 single base substitution T C exon_variant LIRI-JP 11 93464245 93464245 single base substitution T C intron_variant LIRI-JP 11 93467637 93467638 deletion of <=200bp TG - downstream_gene_variant LIRI-JP 11 93467637 93467638 deletion of <=200bp TG - exon_variant LIRI-JP 11 93467637 93467638 deletion of <=200bp TG - intron_variant LIRI-JP 11 93467637 93467638 deletion of <=200bp TG - upstream_gene_variant LIRI-JP 11 93468422 93468422 single base substitution A G downstream_gene_variant LIRI-JP 11 93468422 93468422 single base substitution A G exon_variant LIRI-JP 11 93468422 93468422 single base substitution A G intron_variant LIRI-JP 11 93468422 93468422 single base substitution A G upstream_gene_variant LIRI-JP 11 93468992 93468992 single base substitution T C 3_prime_UTR_variant LIRI-JP 11 93468992 93468992 single base substitution T C downstream_gene_variant LIRI-JP 11 93468992 93468992 single base substitution T C exon_variant LIRI-JP 11 93468992 93468992 single base substitution T C intron_variant LIRI-JP 11 93468992 93468992 single base substitution T C upstream_gene_variant LIRI-JP 11 93470954 93470954 single base substitution T G downstream_gene_variant LIRI-JP 11 93470954 93470954 single base substitution T G intron_variant LIRI-JP 11 93470954 93470954 single base substitution T G upstream_gene_variant LIRI-JP 11 93476135 93476135 deletion of <=200bp A - intron_variant LIRI-JP 11 93476135 93476135 deletion of <=200bp A - upstream_gene_variant LIRI-JP 11 93476465 93476465 single base substitution C T intron_variant LIRI-JP 11 93476465 93476465 single base substitution C T upstream_gene_variant LIRI-JP 11 93478301 93478301 single base substitution A G intron_variant LIRI-JP 11 93478301 93478301 single base substitution A G upstream_gene_variant LIRI-JP 11 93478368 93478368 single base substitution C T intron_variant LIRI-JP 11 93478368 93478368 single base substitution C T upstream_gene_variant LIRI-JP 11 93479393 93479393 single base substitution T C intron_variant LIRI-JP 11 93479393 93479393 single base substitution T C upstream_gene_variant LIRI-JP 11 93480016 93480016 single base substitution A C intron_variant LIRI-JP 11 93480016 93480016 single base substitution A C upstream_gene_variant LIRI-JP 11 93480165 93480165 single base substitution A G intron_variant LIRI-JP 11 93480703 93480717 deletion of <=200bp ACTTATGTATATCTA - intron_variant LIRI-JP 11 93480876 93480883 deletion of <=200bp TACCAACT - intron_variant LIRI-JP 11 93483367 93483367 single base substitution A G intron_variant LIRI-JP 11 93483673 93483673 insertion of <=200bp - AAA intron_variant LIRI-JP 11 93484402 93484402 single base substitution G C intron_variant LIRI-JP 11 93490090 93490090 single base substitution A G intron_variant LIRI-JP 11 93491053 93491053 single base substitution A T intron_variant LIRI-JP 11 93492759 93492759 single base substitution T C intron_variant LIRI-JP 11 93493847 93493847 single base substitution C A intron_variant LIRI-JP 11 93494034 93494034 single base substitution A G intron_variant LIRI-JP 11 93494710 93494710 deletion of <=200bp T - intron_variant LIRI-JP 11 93494951 93494951 single base substitution A T intron_variant LIRI-JP 11 93498094 93498094 single base substitution A T intron_variant LIRI-JP 11 93499295 93499295 single base substitution G A intron_variant LIRI-JP 11 93501719 93501719 single base substitution T A intron_variant LIRI-JP 11 93502978 93502978 single base substitution G C intron_variant LIRI-JP 11 93505403 93505403 single base substitution T C intron_variant LIRI-JP 11 93507378 93507378 single base substitution C G intron_variant LIRI-JP 11 93513111 93513111 single base substitution A G intron_variant LIRI-JP 11 93515958 93515958 single base substitution C A intron_variant LIRI-JP 11 93515959 93515959 single base substitution C T intron_variant LIRI-JP 11 93516795 93516795 single base substitution T C intron_variant LIRI-JP 11 93518698 93518698 single base substitution A G upstream_gene_variant LIRI-JP 11 93520909 93520909 single base substitution A G upstream_gene_variant LUSC-KR 11 93462955 93462955 single base substitution G C downstream_gene_variant LUSC-KR 11 93464175 93464175 single base substitution A C 3_prime_UTR_variant LUSC-KR 11 93464175 93464175 single base substitution A C downstream_gene_variant LUSC-KR 11 93464175 93464175 single base substitution A C exon_variant LUSC-KR 11 93464175 93464175 single base substitution A C intron_variant LUSC-KR 11 93466537 93466537 single base substitution G C 3_prime_UTR_variant LUSC-KR 11 93466537 93466537 single base substitution G C downstream_gene_variant LUSC-KR 11 93466537 93466537 single base substitution G C exon_variant LUSC-KR 11 93466537 93466537 single base substitution G C upstream_gene_variant LUSC-KR 11 93476077 93476077 single base substitution G C intron_variant LUSC-KR 11 93476077 93476077 single base substitution G C upstream_gene_variant LUSC-KR 11 93484862 93484862 single base substitution G T intron_variant LUSC-KR 11 93489497 93489497 single base substitution T A intron_variant LUSC-KR 11 93489699 93489699 single base substitution T G intron_variant LUSC-KR 11 93490045 93490045 single base substitution T G intron_variant LUSC-KR 11 93492723 93492723 single base substitution G A intron_variant LUSC-KR 11 93501679 93501679 single base substitution G C intron_variant LUSC-KR 11 93509919 93509919 single base substitution G A intron_variant LUSC-KR 11 93515082 93515082 single base substitution C G intron_variant LUSC-KR 11 93516121 93516121 single base substitution T C intron_variant LUSC-KR 11 93518302 93518302 single base substitution G T upstream_gene_variant LUSC-KR 11 93520772 93520772 single base substitution G C upstream_gene_variant LUSC-US 11 93483519 93483519 single base substitution G A intron_variant LUSC-US 11 93486866 93486866 single base substitution G T intron_variant LUSC-US 11 93487108 93487108 single base substitution G A intron_variant LUSC-US 11 93494771 93494771 single base substitution G A intron_variant LUSC-US 11 93494785 93494785 single base substitution C A intron_variant MALY-DE 11 93458259 93458259 single base substitution A G downstream_gene_variant MALY-DE 11 93459244 93459244 single base substitution A T downstream_gene_variant MALY-DE 11 93460189 93460189 single base substitution G C downstream_gene_variant MALY-DE 11 93461697 93461697 single base substitution T C downstream_gene_variant MALY-DE 11 93461867 93461867 single base substitution T A downstream_gene_variant MALY-DE 11 93461887 93461887 single base substitution T C downstream_gene_variant MALY-DE 11 93466502 93466502 single base substitution C A downstream_gene_variant MALY-DE 11 93466502 93466502 single base substitution C A exon_variant MALY-DE 11 93466502 93466502 single base substitution C A intron_variant MALY-DE 11 93466502 93466502 single base substitution C A upstream_gene_variant MALY-DE 11 93467431 93467431 single base substitution T G downstream_gene_variant MALY-DE 11 93467431 93467431 single base substitution T G exon_variant MALY-DE 11 93467431 93467431 single base substitution T G intron_variant MALY-DE 11 93467431 93467431 single base substitution T G upstream_gene_variant MALY-DE 11 93473429 93473429 single base substitution G A intron_variant MALY-DE 11 93473429 93473429 single base substitution G A upstream_gene_variant MALY-DE 11 93480962 93480962 single base substitution T C intron_variant MALY-DE 11 93496502 93496502 single base substitution G A intron_variant MALY-DE 11 93500836 93500836 single base substitution T G intron_variant MALY-DE 11 93502386 93502386 single base substitution A C intron_variant MALY-DE 11 93504278 93504278 single base substitution C T intron_variant MALY-DE 11 93504727 93504727 deletion of <=200bp C - intron_variant MALY-DE 11 93517434 93517434 single base substitution T C intron_variant MALY-DE 11 93517485 93517485 single base substitution C T 5_prime_UTR_variant MALY-DE 11 93520585 93520585 insertion of <=200bp - A upstream_gene_variant MELA-AU 11 93460248 93460248 single base substitution C T downstream_gene_variant MELA-AU 11 93460409 93460409 single base substitution G A downstream_gene_variant MELA-AU 11 93460850 93460850 single base substitution G A downstream_gene_variant MELA-AU 11 93462042 93462042 single base substitution G C downstream_gene_variant MELA-AU 11 93464353 93464353 single base substitution G A 3_prime_UTR_variant MELA-AU 11 93464353 93464353 single base substitution G A downstream_gene_variant MELA-AU 11 93464353 93464353 single base substitution G A exon_variant MELA-AU 11 93467009 93467009 single base substitution A G downstream_gene_variant MELA-AU 11 93467009 93467009 single base substitution A G exon_variant MELA-AU 11 93467009 93467009 single base substitution A G intron_variant MELA-AU 11 93467009 93467009 single base substitution A G upstream_gene_variant MELA-AU 11 93468954 93468954 single base substitution C T 3_prime_UTR_variant MELA-AU 11 93468954 93468954 single base substitution C T downstream_gene_variant MELA-AU 11 93468954 93468954 single base substitution C T exon_variant MELA-AU 11 93468954 93468954 single base substitution C T intron_variant MELA-AU 11 93468954 93468954 single base substitution C T upstream_gene_variant MELA-AU 11 93469413 93469413 single base substitution C T downstream_gene_variant MELA-AU 11 93469413 93469413 single base substitution C T exon_variant MELA-AU 11 93469413 93469413 single base substitution C T intron_variant MELA-AU 11 93469413 93469413 single base substitution C T missense_variant E251K 751G>A MELA-AU 11 93469413 93469413 single base substitution C T upstream_gene_variant MELA-AU 11 93469958 93469958 single base substitution G A downstream_gene_variant MELA-AU 11 93469958 93469958 single base substitution G A exon_variant MELA-AU 11 93469958 93469958 single base substitution G A intron_variant MELA-AU 11 93469958 93469958 single base substitution G A upstream_gene_variant MELA-AU 11 93471686 93471686 single base substitution T A downstream_gene_variant MELA-AU 11 93471686 93471686 single base substitution T A intron_variant MELA-AU 11 93471686 93471686 single base substitution T A upstream_gene_variant MELA-AU 11 93472789 93472789 single base substitution C T intron_variant MELA-AU 11 93472789 93472789 single base substitution C T upstream_gene_variant MELA-AU 11 93473321 93473321 single base substitution G A intron_variant MELA-AU 11 93473321 93473321 single base substitution G A upstream_gene_variant MELA-AU 11 93473548 93473548 single base substitution G A intron_variant MELA-AU 11 93473548 93473548 single base substitution G A upstream_gene_variant MELA-AU 11 93474346 93474346 single base substitution G A intron_variant MELA-AU 11 93474346 93474346 single base substitution G A upstream_gene_variant MELA-AU 11 93474655 93474655 single base substitution G A 5_prime_UTR_variant MELA-AU 11 93474655 93474655 single base substitution G A exon_variant MELA-AU 11 93474655 93474655 single base substitution G A intron_variant MELA-AU 11 93474655 93474655 single base substitution G A missense_variant S2F 5C>T MELA-AU 11 93474655 93474655 single base substitution G A upstream_gene_variant MELA-AU 11 93474690 93474690 single base substitution G A 5_prime_UTR_variant MELA-AU 11 93474690 93474690 single base substitution G A intron_variant MELA-AU 11 93474690 93474690 single base substitution G A upstream_gene_variant MELA-AU 11 93474724 93474724 single base substitution C T 5_prime_UTR_variant MELA-AU 11 93474724 93474724 single base substitution C T intron_variant MELA-AU 11 93474724 93474724 single base substitution C T upstream_gene_variant MELA-AU 11 93474763 93474764 multiple base substitution (>=2bp and <=200bp) GG AA 5_prime_UTR_variant MELA-AU 11 93474763 93474764 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 93474763 93474764 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 11 93474828 93474828 single base substitution C T 5_prime_UTR_variant MELA-AU 11 93474828 93474828 single base substitution C T intron_variant MELA-AU 11 93474828 93474828 single base substitution C T upstream_gene_variant MELA-AU 11 93475068 93475068 single base substitution G A 5_prime_UTR_variant MELA-AU 11 93475068 93475068 single base substitution G A intron_variant MELA-AU 11 93475068 93475068 single base substitution G A upstream_gene_variant MELA-AU 11 93475244 93475244 single base substitution A T intron_variant MELA-AU 11 93475244 93475244 single base substitution A T upstream_gene_variant MELA-AU 11 93475326 93475326 single base substitution T C intron_variant MELA-AU 11 93475326 93475326 single base substitution T C upstream_gene_variant MELA-AU 11 93475988 93475988 single base substitution T C 5_prime_UTR_variant MELA-AU 11 93475988 93475988 single base substitution T C upstream_gene_variant MELA-AU 11 93476841 93476841 single base substitution C T intron_variant MELA-AU 11 93476841 93476841 single base substitution C T upstream_gene_variant MELA-AU 11 93477029 93477029 single base substitution C T intron_variant MELA-AU 11 93477029 93477029 single base substitution C T upstream_gene_variant MELA-AU 11 93477283 93477283 single base substitution G A intron_variant MELA-AU 11 93477283 93477283 single base substitution G A upstream_gene_variant MELA-AU 11 93477410 93477410 single base substitution C T intron_variant MELA-AU 11 93477410 93477410 single base substitution C T upstream_gene_variant MELA-AU 11 93478251 93478251 single base substitution C T intron_variant MELA-AU 11 93478251 93478251 single base substitution C T upstream_gene_variant MELA-AU 11 93478295 93478295 single base substitution C A intron_variant MELA-AU 11 93478295 93478295 single base substitution C A upstream_gene_variant MELA-AU 11 93479417 93479417 single base substitution G C intron_variant MELA-AU 11 93479417 93479417 single base substitution G C upstream_gene_variant MELA-AU 11 93479442 93479442 single base substitution G A intron_variant MELA-AU 11 93479442 93479442 single base substitution G A upstream_gene_variant MELA-AU 11 93479531 93479531 single base substitution G C intron_variant MELA-AU 11 93479531 93479531 single base substitution G C upstream_gene_variant MELA-AU 11 93479651 93479651 single base substitution G A intron_variant MELA-AU 11 93479651 93479651 single base substitution G A upstream_gene_variant MELA-AU 11 93480336 93480336 single base substitution G T intron_variant MELA-AU 11 93481556 93481556 single base substitution C T intron_variant MELA-AU 11 93481771 93481771 single base substitution G A intron_variant MELA-AU 11 93482475 93482475 single base substitution C T intron_variant MELA-AU 11 93483233 93483233 single base substitution C T intron_variant MELA-AU 11 93484279 93484279 single base substitution G T intron_variant MELA-AU 11 93486126 93486126 single base substitution A G intron_variant MELA-AU 11 93487129 93487129 single base substitution G A intron_variant MELA-AU 11 93489079 93489079 single base substitution C T intron_variant MELA-AU 11 93489236 93489237 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 93489497 93489497 single base substitution T A intron_variant MELA-AU 11 93489732 93489732 single base substitution G A intron_variant MELA-AU 11 93490974 93490974 single base substitution C T intron_variant MELA-AU 11 93492639 93492639 single base substitution A C intron_variant MELA-AU 11 93493410 93493410 single base substitution C T intron_variant MELA-AU 11 93493789 93493789 single base substitution C T intron_variant MELA-AU 11 93494684 93494684 single base substitution T C intron_variant MELA-AU 11 93495986 93495986 single base substitution C T intron_variant MELA-AU 11 93500757 93500757 single base substitution C G intron_variant MELA-AU 11 93500767 93500767 single base substitution G A intron_variant MELA-AU 11 93501436 93501436 single base substitution T C intron_variant MELA-AU 11 93501720 93501720 single base substitution C A intron_variant MELA-AU 11 93502074 93502074 single base substitution G A intron_variant MELA-AU 11 93502573 93502573 single base substitution A C intron_variant MELA-AU 11 93503083 93503083 single base substitution G A intron_variant MELA-AU 11 93503185 93503185 single base substitution T C intron_variant MELA-AU 11 93503225 93503225 single base substitution G C intron_variant MELA-AU 11 93503472 93503472 single base substitution T C intron_variant MELA-AU 11 93504618 93504618 single base substitution C T intron_variant MELA-AU 11 93505429 93505429 single base substitution G A intron_variant MELA-AU 11 93506728 93506728 single base substitution A G intron_variant MELA-AU 11 93507117 93507117 single base substitution C G intron_variant MELA-AU 11 93507301 93507301 single base substitution A G intron_variant MELA-AU 11 93507664 93507664 single base substitution G A intron_variant MELA-AU 11 93507872 93507872 single base substitution C T intron_variant MELA-AU 11 93507902 93507902 single base substitution G A intron_variant MELA-AU 11 93508326 93508326 single base substitution A G intron_variant MELA-AU 11 93509696 93509696 single base substitution C A intron_variant MELA-AU 11 93510076 93510077 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 93510161 93510161 single base substitution G A intron_variant MELA-AU 11 93510215 93510215 single base substitution G C intron_variant MELA-AU 11 93510243 93510243 single base substitution G C intron_variant MELA-AU 11 93510296 93510296 single base substitution T A intron_variant MELA-AU 11 93510318 93510318 single base substitution G A intron_variant MELA-AU 11 93510491 93510491 single base substitution G A intron_variant MELA-AU 11 93510558 93510558 single base substitution G C intron_variant MELA-AU 11 93510602 93510602 single base substitution G C intron_variant MELA-AU 11 93513149 93513149 single base substitution G A intron_variant MELA-AU 11 93514796 93514796 single base substitution G A intron_variant MELA-AU 11 93514849 93514849 single base substitution A G intron_variant MELA-AU 11 93514850 93514854 deletion of <=200bp AAACG - intron_variant MELA-AU 11 93515408 93515408 single base substitution G A intron_variant MELA-AU 11 93516525 93516525 single base substitution T C intron_variant MELA-AU 11 93516969 93516969 single base substitution A T intron_variant MELA-AU 11 93517208 93517208 single base substitution G A intron_variant MELA-AU 11 93517492 93517492 single base substitution T A 5_prime_UTR_variant MELA-AU 11 93517727 93517727 single base substitution G T upstream_gene_variant MELA-AU 11 93518196 93518196 single base substitution C T upstream_gene_variant MELA-AU 11 93519908 93519908 single base substitution T A upstream_gene_variant MELA-AU 11 93520432 93520432 single base substitution A G upstream_gene_variant MELA-AU 11 93520471 93520471 single base substitution G T upstream_gene_variant MELA-AU 11 93520860 93520860 single base substitution C T upstream_gene_variant MELA-AU 11 93521326 93521326 single base substitution C T upstream_gene_variant MELA-AU 11 93521751 93521751 single base substitution G A upstream_gene_variant MELA-AU 11 93521998 93521998 single base substitution C T upstream_gene_variant ORCA-IN 11 93460687 93460687 single base substitution G C downstream_gene_variant ORCA-IN 11 93477616 93477616 single base substitution T C intron_variant ORCA-IN 11 93477616 93477616 single base substitution T C upstream_gene_variant OV-AU 11 93461109 93461109 single base substitution T G downstream_gene_variant OV-AU 11 93462883 93462883 single base substitution A G downstream_gene_variant OV-AU 11 93467715 93467715 single base substitution A C downstream_gene_variant OV-AU 11 93467715 93467715 single base substitution A C exon_variant OV-AU 11 93467715 93467715 single base substitution A C intron_variant OV-AU 11 93467715 93467715 single base substitution A C upstream_gene_variant OV-AU 11 93468794 93468794 single base substitution C T 3_prime_UTR_variant OV-AU 11 93468794 93468794 single base substitution C T downstream_gene_variant OV-AU 11 93468794 93468794 single base substitution C T exon_variant OV-AU 11 93468794 93468794 single base substitution C T intron_variant OV-AU 11 93468794 93468794 single base substitution C T upstream_gene_variant OV-AU 11 93471390 93471390 single base substitution G C 3_prime_UTR_variant OV-AU 11 93471390 93471390 single base substitution G C downstream_gene_variant OV-AU 11 93471390 93471390 single base substitution G C exon_variant OV-AU 11 93471390 93471390 single base substitution G C intron_variant OV-AU 11 93471390 93471390 single base substitution G C missense_variant P115R 344C>G OV-AU 11 93471390 93471390 single base substitution G C upstream_gene_variant OV-AU 11 93471573 93471573 single base substitution C G downstream_gene_variant OV-AU 11 93471573 93471573 single base substitution C G exon_variant OV-AU 11 93471573 93471573 single base substitution C G intron_variant OV-AU 11 93471573 93471573 single base substitution C G missense_variant R54P 161G>C OV-AU 11 93471573 93471573 single base substitution C G missense_variant V89L 265G>C OV-AU 11 93471573 93471573 single base substitution C G upstream_gene_variant OV-AU 11 93473100 93473100 single base substitution C T intron_variant OV-AU 11 93473100 93473100 single base substitution C T upstream_gene_variant OV-AU 11 93474353 93474353 single base substitution T C intron_variant OV-AU 11 93474353 93474353 single base substitution T C upstream_gene_variant OV-AU 11 93475708 93475708 single base substitution C G intron_variant OV-AU 11 93475708 93475708 single base substitution C G upstream_gene_variant OV-AU 11 93477604 93477604 single base substitution T C intron_variant OV-AU 11 93477604 93477604 single base substitution T C upstream_gene_variant OV-AU 11 93482258 93482258 single base substitution C T intron_variant OV-AU 11 93498610 93498610 single base substitution C G intron_variant OV-AU 11 93505484 93505484 single base substitution T A intron_variant OV-AU 11 93505849 93505849 single base substitution G A intron_variant OV-AU 11 93511490 93511490 single base substitution C A intron_variant OV-AU 11 93512620 93512620 single base substitution G C intron_variant OV-AU 11 93517756 93517756 single base substitution G T upstream_gene_variant OV-AU 11 93520857 93520857 single base substitution G C upstream_gene_variant PACA-AU 11 93460220 93460220 single base substitution T C downstream_gene_variant PACA-AU 11 93474373 93474373 single base substitution A C intron_variant PACA-AU 11 93474373 93474373 single base substitution A C upstream_gene_variant PACA-AU 11 93483627 93483627 single base substitution A G intron_variant PACA-AU 11 93485846 93485846 single base substitution C T intron_variant PACA-AU 11 93496539 93496539 single base substitution G T intron_variant PACA-AU 11 93496765 93496765 single base substitution T A intron_variant PACA-AU 11 93496951 93496952 deletion of <=200bp CA - intron_variant PACA-AU 11 93497115 93497115 insertion of <=200bp - T intron_variant PACA-AU 11 93498825 93498825 single base substitution G C intron_variant PACA-AU 11 93504938 93504938 single base substitution T A intron_variant PACA-AU 11 93508078 93508078 single base substitution C A intron_variant PACA-AU 11 93508365 93508365 single base substitution C T intron_variant PACA-AU 11 93510418 93510418 deletion of <=200bp T - intron_variant PACA-AU 11 93510647 93510648 deletion of <=200bp TC - intron_variant PACA-AU 11 93512007 93512007 single base substitution C T intron_variant PACA-AU 11 93513846 93513846 single base substitution G A intron_variant PACA-AU 11 93514016 93514016 single base substitution T C intron_variant PACA-AU 11 93515946 93515946 single base substitution T C intron_variant PACA-AU 11 93520066 93520066 single base substitution T A upstream_gene_variant PACA-CA 11 93459263 93459263 deletion of <=200bp A - downstream_gene_variant PACA-CA 11 93460723 93460723 deletion of <=200bp A - downstream_gene_variant PACA-CA 11 93461353 93461353 single base substitution C T downstream_gene_variant PACA-CA 11 93464594 93464594 single base substitution G T downstream_gene_variant PACA-CA 11 93464594 93464594 single base substitution G T intron_variant PACA-CA 11 93464642 93464642 single base substitution A G downstream_gene_variant PACA-CA 11 93464642 93464642 single base substitution A G intron_variant PACA-CA 11 93467250 93467250 single base substitution C A downstream_gene_variant PACA-CA 11 93467250 93467250 single base substitution C A exon_variant PACA-CA 11 93467250 93467250 single base substitution C A intron_variant PACA-CA 11 93467250 93467250 single base substitution C A upstream_gene_variant PACA-CA 11 93468738 93468738 single base substitution G A 3_prime_UTR_variant PACA-CA 11 93468738 93468738 single base substitution G A downstream_gene_variant PACA-CA 11 93468738 93468738 single base substitution G A exon_variant PACA-CA 11 93468738 93468738 single base substitution G A intron_variant PACA-CA 11 93468738 93468738 single base substitution G A upstream_gene_variant PACA-CA 11 93471884 93471884 single base substitution G A downstream_gene_variant PACA-CA 11 93471884 93471884 single base substitution G A intron_variant PACA-CA 11 93471884 93471884 single base substitution G A upstream_gene_variant PACA-CA 11 93476457 93476457 single base substitution G A intron_variant PACA-CA 11 93476457 93476457 single base substitution G A upstream_gene_variant PACA-CA 11 93479226 93479226 single base substitution G C intron_variant PACA-CA 11 93479226 93479226 single base substitution G C upstream_gene_variant PACA-CA 11 93479236 93479236 single base substitution G C intron_variant PACA-CA 11 93479236 93479236 single base substitution G C upstream_gene_variant PACA-CA 11 93482444 93482444 single base substitution T C intron_variant PACA-CA 11 93487640 93487640 single base substitution G A intron_variant PACA-CA 11 93487821 93487821 deletion of <=200bp A - intron_variant PACA-CA 11 93490686 93490686 single base substitution T C intron_variant PACA-CA 11 93496220 93496220 insertion of <=200bp - A intron_variant PACA-CA 11 93496555 93496555 deletion of <=200bp T - intron_variant PACA-CA 11 93500342 93500342 single base substitution T C intron_variant PACA-CA 11 93501687 93501687 single base substitution G A intron_variant PACA-CA 11 93502882 93502882 single base substitution T A intron_variant PACA-CA 11 93503207 93503207 single base substitution A G intron_variant PACA-CA 11 93505888 93505888 single base substitution G T intron_variant PACA-CA 11 93506931 93506931 single base substitution C T intron_variant PACA-CA 11 93508269 93508269 single base substitution C T intron_variant PACA-CA 11 93514041 93514041 single base substitution A T intron_variant PACA-CA 11 93515586 93515586 single base substitution C G intron_variant PACA-CA 11 93516944 93516944 single base substitution C T intron_variant PACA-CA 11 93521149 93521149 single base substitution T C upstream_gene_variant PACA-CA 11 93521538 93521538 single base substitution A T upstream_gene_variant PACA-CA 11 93522115 93522115 single base substitution G A upstream_gene_variant PAEN-AU 11 93464398 93464398 single base substitution T C downstream_gene_variant PAEN-AU 11 93464398 93464398 single base substitution T C intron_variant PAEN-IT 11 93506039 93506039 single base substitution C A intron_variant PBCA-DE 11 93475434 93475434 single base substitution G T intron_variant PBCA-DE 11 93475434 93475434 single base substitution G T upstream_gene_variant PBCA-DE 11 93481119 93481119 insertion of <=200bp - A intron_variant PBCA-DE 11 93516526 93516526 single base substitution C A intron_variant PRAD-CA 11 93498479 93498479 single base substitution C G intron_variant PRAD-CA 11 93499792 93499792 single base substitution G A intron_variant PRAD-UK 11 93459287 93459290 deletion of <=200bp TTTG - downstream_gene_variant PRAD-UK 11 93467213 93467242 deletion of <=200bp TTAAGATTTAAGTTTAAAGTCTAACTGTTG - downstream_gene_variant PRAD-UK 11 93467213 93467242 deletion of <=200bp TTAAGATTTAAGTTTAAAGTCTAACTGTTG - exon_variant PRAD-UK 11 93467213 93467242 deletion of <=200bp TTAAGATTTAAGTTTAAAGTCTAACTGTTG - intron_variant PRAD-UK 11 93467213 93467242 deletion of <=200bp TTAAGATTTAAGTTTAAAGTCTAACTGTTG - upstream_gene_variant PRAD-UK 11 93473182 93473182 single base substitution A G intron_variant PRAD-UK 11 93473182 93473182 single base substitution A G upstream_gene_variant PRAD-UK 11 93504411 93504411 single base substitution G A intron_variant PRAD-US 11 93471453 93471453 deletion of <=200bp T - 3_prime_UTR_variant PRAD-US 11 93471453 93471453 deletion of <=200bp T - downstream_gene_variant PRAD-US 11 93471453 93471453 deletion of <=200bp T - exon_variant PRAD-US 11 93471453 93471453 deletion of <=200bp T - frameshift_variant K94 PRAD-US 11 93471453 93471453 deletion of <=200bp T - intron_variant PRAD-US 11 93471453 93471453 deletion of <=200bp T - upstream_gene_variant PRAD-US 11 93471531 93471531 single base substitution G A 3_prime_UTR_variant PRAD-US 11 93471531 93471531 single base substitution G A downstream_gene_variant PRAD-US 11 93471531 93471531 single base substitution G A exon_variant PRAD-US 11 93471531 93471531 single base substitution G A intron_variant PRAD-US 11 93471531 93471531 single base substitution G A missense_variant H103Y 307C>T PRAD-US 11 93471531 93471531 single base substitution G A missense_variant S68L 203C>T PRAD-US 11 93471531 93471531 single base substitution G A upstream_gene_variant PRAD-US 11 93486914 93486914 deletion of <=200bp A - intron_variant READ-US 11 93486913 93486913 insertion of <=200bp - A intron_variant RECA-EU 11 93463099 93463099 single base substitution A C downstream_gene_variant RECA-EU 11 93468768 93468768 single base substitution A G 3_prime_UTR_variant RECA-EU 11 93468768 93468768 single base substitution A G downstream_gene_variant RECA-EU 11 93468768 93468768 single base substitution A G exon_variant RECA-EU 11 93468768 93468768 single base substitution A G intron_variant RECA-EU 11 93468768 93468768 single base substitution A G upstream_gene_variant RECA-EU 11 93472190 93472190 single base substitution T A downstream_gene_variant RECA-EU 11 93472190 93472190 single base substitution T A exon_variant RECA-EU 11 93472190 93472190 single base substitution T A intron_variant RECA-EU 11 93472190 93472190 single base substitution T A upstream_gene_variant RECA-EU 11 93474194 93474194 single base substitution C T intron_variant RECA-EU 11 93474194 93474194 single base substitution C T upstream_gene_variant RECA-EU 11 93475352 93475352 single base substitution T A intron_variant RECA-EU 11 93475352 93475352 single base substitution T A upstream_gene_variant RECA-EU 11 93475948 93475948 single base substitution G T 5_prime_UTR_variant RECA-EU 11 93475948 93475948 single base substitution G T upstream_gene_variant RECA-EU 11 93476302 93476302 single base substitution G A intron_variant RECA-EU 11 93476302 93476302 single base substitution G A upstream_gene_variant RECA-EU 11 93478651 93478651 single base substitution T C intron_variant RECA-EU 11 93478651 93478651 single base substitution T C upstream_gene_variant RECA-EU 11 93479612 93479612 single base substitution C T intron_variant RECA-EU 11 93479612 93479612 single base substitution C T upstream_gene_variant RECA-EU 11 93483849 93483849 single base substitution A G intron_variant RECA-EU 11 93487347 93487347 single base substitution T C intron_variant RECA-EU 11 93491036 93491036 single base substitution T C intron_variant RECA-EU 11 93497466 93497466 single base substitution T C intron_variant RECA-EU 11 93501451 93501451 single base substitution T C intron_variant RECA-EU 11 93519987 93519987 single base substitution T G upstream_gene_variant SKCA-BR 11 93461945 93461945 single base substitution C T downstream_gene_variant SKCA-BR 11 93461987 93461987 single base substitution G A downstream_gene_variant SKCA-BR 11 93466920 93466920 single base substitution C T downstream_gene_variant SKCA-BR 11 93466920 93466920 single base substitution C T exon_variant SKCA-BR 11 93466920 93466920 single base substitution C T intron_variant SKCA-BR 11 93466920 93466920 single base substitution C T upstream_gene_variant SKCA-BR 11 93466922 93466922 single base substitution C T downstream_gene_variant SKCA-BR 11 93466922 93466922 single base substitution C T exon_variant SKCA-BR 11 93466922 93466922 single base substitution C T intron_variant SKCA-BR 11 93466922 93466922 single base substitution C T upstream_gene_variant SKCA-BR 11 93472874 93472874 single base substitution C T intron_variant SKCA-BR 11 93472874 93472874 single base substitution C T upstream_gene_variant SKCA-BR 11 93474730 93474730 single base substitution G A 5_prime_UTR_variant SKCA-BR 11 93474730 93474730 single base substitution G A intron_variant SKCA-BR 11 93474730 93474730 single base substitution G A upstream_gene_variant SKCA-BR 11 93478607 93478607 single base substitution T G intron_variant SKCA-BR 11 93478607 93478607 single base substitution T G upstream_gene_variant SKCA-BR 11 93480717 93480717 insertion of <=200bp - ATATCTTACT intron_variant SKCA-BR 11 93481965 93481965 single base substitution G A intron_variant SKCA-BR 11 93484193 93484193 single base substitution G A intron_variant SKCA-BR 11 93485912 93485912 insertion of <=200bp - GT intron_variant SKCA-BR 11 93486233 93486233 single base substitution G C intron_variant SKCA-BR 11 93487894 93487897 deletion of <=200bp CTTT - intron_variant SKCA-BR 11 93488092 93488092 single base substitution T G intron_variant SKCA-BR 11 93489357 93489357 single base substitution G A intron_variant SKCA-BR 11 93489478 93489478 insertion of <=200bp - CA intron_variant SKCA-BR 11 93494054 93494054 single base substitution A C intron_variant SKCA-BR 11 93499361 93499361 single base substitution C T intron_variant SKCA-BR 11 93500873 93500874 deletion of <=200bp TA - intron_variant SKCA-BR 11 93501015 93501015 single base substitution C T intron_variant SKCA-BR 11 93502920 93502920 single base substitution G A intron_variant SKCA-BR 11 93504625 93504625 single base substitution A T intron_variant SKCA-BR 11 93506785 93506785 single base substitution C A intron_variant SKCA-BR 11 93506787 93506788 deletion of <=200bp AG - intron_variant SKCA-BR 11 93507219 93507219 single base substitution G A intron_variant SKCA-BR 11 93508177 93508177 single base substitution G A intron_variant SKCA-BR 11 93508313 93508313 insertion of <=200bp - CA intron_variant SKCA-BR 11 93509488 93509488 single base substitution G A intron_variant SKCA-BR 11 93510249 93510249 single base substitution A G intron_variant SKCA-BR 11 93510964 93510964 insertion of <=200bp - CT intron_variant SKCA-BR 11 93511337 93511337 single base substitution A T intron_variant SKCA-BR 11 93521846 93521846 insertion of <=200bp - CA upstream_gene_variant SKCM-US 11 93464361 93464361 single base substitution T G 3_prime_UTR_variant SKCM-US 11 93464361 93464361 single base substitution T G downstream_gene_variant SKCM-US 11 93464361 93464361 single base substitution T G exon_variant SKCM-US 11 93466516 93466516 single base substitution C T downstream_gene_variant SKCM-US 11 93466516 93466516 single base substitution C T exon_variant SKCM-US 11 93466516 93466516 single base substitution C T splice_region_variant SKCM-US 11 93466516 93466516 single base substitution C T upstream_gene_variant SKCM-US 11 93480597 93480597 single base substitution T G intron_variant SKCM-US 11 93487129 93487129 single base substitution G A intron_variant SKCM-US 11 93492939 93492939 single base substitution C T intron_variant SKCM-US 11 93521326 93521326 single base substitution C T upstream_gene_variant STAD-US 11 93469351 93469351 single base substitution A G downstream_gene_variant STAD-US 11 93469351 93469351 single base substitution A G exon_variant STAD-US 11 93469351 93469351 single base substitution A G intron_variant STAD-US 11 93469351 93469351 single base substitution A G synonymous_variant T271T 813T>C STAD-US 11 93469351 93469351 single base substitution A G upstream_gene_variant STAD-US 11 93469380 93469380 single base substitution T A downstream_gene_variant STAD-US 11 93469380 93469380 single base substitution T A exon_variant STAD-US 11 93469380 93469380 single base substitution T A intron_variant STAD-US 11 93469380 93469380 single base substitution T A stop_gained K262* 784A>T STAD-US 11 93469380 93469380 single base substitution T A upstream_gene_variant STAD-US 11 93469428 93469428 single base substitution T C downstream_gene_variant STAD-US 11 93469428 93469428 single base substitution T C exon_variant STAD-US 11 93469428 93469428 single base substitution T C intron_variant STAD-US 11 93469428 93469428 single base substitution T C missense_variant S246G 736A>G STAD-US 11 93469428 93469428 single base substitution T C upstream_gene_variant STAD-US 11 93470382 93470382 deletion of <=200bp A - 3_prime_UTR_variant STAD-US 11 93470382 93470382 deletion of <=200bp A - downstream_gene_variant STAD-US 11 93470382 93470382 deletion of <=200bp A - exon_variant STAD-US 11 93470382 93470382 deletion of <=200bp A - frameshift_variant F161 STAD-US 11 93470382 93470382 deletion of <=200bp A - upstream_gene_variant STAD-US 11 93471428 93471428 single base substitution T A 3_prime_UTR_variant STAD-US 11 93471428 93471428 single base substitution T A downstream_gene_variant STAD-US 11 93471428 93471428 single base substitution T A exon_variant STAD-US 11 93471428 93471428 single base substitution T A intron_variant STAD-US 11 93471428 93471428 single base substitution T A synonymous_variant T102T 306A>T STAD-US 11 93471428 93471428 single base substitution T A upstream_gene_variant STAD-US 11 93471453 93471453 deletion of <=200bp T - 3_prime_UTR_variant STAD-US 11 93471453 93471453 deletion of <=200bp T - downstream_gene_variant STAD-US 11 93471453 93471453 deletion of <=200bp T - exon_variant STAD-US 11 93471453 93471453 deletion of <=200bp T - frameshift_variant K94 STAD-US 11 93471453 93471453 deletion of <=200bp T - intron_variant STAD-US 11 93471453 93471453 deletion of <=200bp T - upstream_gene_variant STAD-US 11 93471662 93471662 single base substitution A T downstream_gene_variant STAD-US 11 93471662 93471662 single base substitution A T exon_variant STAD-US 11 93471662 93471662 single base substitution A T intron_variant STAD-US 11 93471662 93471662 single base substitution A T missense_variant D24E 72T>A STAD-US 11 93471662 93471662 single base substitution A T missense_variant I59K 176T>A STAD-US 11 93471662 93471662 single base substitution A T upstream_gene_variant STAD-US 11 93494710 93494710 deletion of <=200bp T - intron_variant STAD-US 11 93494790 93494790 single base substitution T C intron_variant STAD-US 11 93494832 93494832 single base substitution C T intron_variant THCA-SA 11 93464175 93464175 single base substitution A C 3_prime_UTR_variant THCA-SA 11 93464175 93464175 single base substitution A C downstream_gene_variant THCA-SA 11 93464175 93464175 single base substitution A C exon_variant THCA-SA 11 93464175 93464175 single base substitution A C intron_variant THCA-SA 11 93469154 93469154 single base substitution C T 3_prime_UTR_variant THCA-SA 11 93469154 93469154 single base substitution C T downstream_gene_variant THCA-SA 11 93469154 93469154 single base substitution C T exon_variant THCA-SA 11 93469154 93469154 single base substitution C T intron_variant THCA-SA 11 93469154 93469154 single base substitution C T upstream_gene_variant UCEC-US 11 93458827 93458827 single base substitution C A downstream_gene_variant UCEC-US 11 93460384 93460384 single base substitution T G downstream_gene_variant UCEC-US 11 93460414 93460414 single base substitution C T downstream_gene_variant UCEC-US 11 93462912 93462912 single base substitution C A downstream_gene_variant UCEC-US 11 93462942 93462942 single base substitution C A downstream_gene_variant UCEC-US 11 93463219 93463219 single base substitution T C 3_prime_UTR_variant UCEC-US 11 93463219 93463219 single base substitution T C downstream_gene_variant UCEC-US 11 93463303 93463303 single base substitution G T 3_prime_UTR_variant UCEC-US 11 93463303 93463303 single base substitution G T downstream_gene_variant UCEC-US 11 93463403 93463403 single base substitution C T 3_prime_UTR_variant UCEC-US 11 93463403 93463403 single base substitution C T downstream_gene_variant UCEC-US 11 93463403 93463403 single base substitution C T exon_variant UCEC-US 11 93463415 93463415 single base substitution C T 3_prime_UTR_variant UCEC-US 11 93463415 93463415 single base substitution C T downstream_gene_variant UCEC-US 11 93463415 93463415 single base substitution C T exon_variant UCEC-US 11 93471365 93471365 single base substitution C A 3_prime_UTR_variant UCEC-US 11 93471365 93471365 single base substitution C A downstream_gene_variant UCEC-US 11 93471365 93471365 single base substitution C A exon_variant UCEC-US 11 93471365 93471365 single base substitution C A intron_variant UCEC-US 11 93471365 93471365 single base substitution C A missense_variant K123N 369G>T UCEC-US 11 93471365 93471365 single base substitution C A upstream_gene_variant UCEC-US 11 93471465 93471465 single base substitution C A 3_prime_UTR_variant UCEC-US 11 93471465 93471465 single base substitution C A downstream_gene_variant UCEC-US 11 93471465 93471465 single base substitution C A exon_variant UCEC-US 11 93471465 93471465 single base substitution C A intron_variant UCEC-US 11 93471465 93471465 single base substitution C A missense_variant R90I 269G>T UCEC-US 11 93471465 93471465 single base substitution C A upstream_gene_variant UCEC-US 11 93471479 93471479 single base substitution C T 3_prime_UTR_variant UCEC-US 11 93471479 93471479 single base substitution C T downstream_gene_variant UCEC-US 11 93471479 93471479 single base substitution C T exon_variant UCEC-US 11 93471479 93471479 single base substitution C T intron_variant UCEC-US 11 93471479 93471479 single base substitution C T synonymous_variant K85K 255G>A UCEC-US 11 93471479 93471479 single base substitution C T upstream_gene_variant UCEC-US 11 93471597 93471597 single base substitution C A downstream_gene_variant UCEC-US 11 93471597 93471597 single base substitution C A exon_variant UCEC-US 11 93471597 93471597 single base substitution C A intron_variant UCEC-US 11 93471597 93471597 single base substitution C A missense_variant R46I 137G>T UCEC-US 11 93471597 93471597 single base substitution C A stop_gained E81* 241G>T UCEC-US 11 93471597 93471597 single base substitution C A upstream_gene_variant UCEC-US 11 93472437 93472437 single base substitution C T downstream_gene_variant UCEC-US 11 93472437 93472437 single base substitution C T exon_variant UCEC-US 11 93472437 93472437 single base substitution C T intron_variant UCEC-US 11 93472437 93472437 single base substitution C T missense_variant V12M 34G>A UCEC-US 11 93472437 93472437 single base substitution C T upstream_gene_variant UCEC-US 11 93494693 93494693 single base substitution C T intron_variant UCEC-US 11 93494810 93494810 single base substitution C T intron_variant UCEC-US 11 93494833 93494833 single base substitution G A intron_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand Pat_53_B COSM1357896 c.281delA p.K94fs*26 Deletion - Frameshift 11:93738287-93738287 - T3262 COSM4731978 c.470C>T p.A157V Substitution - Missense 11:93737229-93737229 - CSCC-37-T COSM4572311 c.707T>A p.I236K Substitution - Missense 11:93736291-93736291 - CSCC-32-T COSM4501100 c.580C>G p.R194G Substitution - Missense 11:93737119-93737119 - TCGA-A6-5665-01 COSM1357895 c.281_282insA p.K95fs*28 Insertion - Frameshift 11:93738286-93738287 - HCC37 COSM1605386 c.266A>C p.K89T Substitution - Missense 11:93738302-93738302 - TCGA-CM-6162-01 COSM2224737 c.635+1G>A p.? Unknown 11:93737063-93737063 - BD180T COSM5495126 c.453G>T p.T151T Substitution - coding silent 11:93738115-93738115 - STC232 COSM5051219 c.388G>A p.G130R Substitution - Missense 11:93738180-93738180 - TCGA-F4-6570-01 COSM1357894 c.366G>A p.K122K Substitution - coding silent 11:93738202-93738202 - TCGA-BS-A0UV-01 COSM933418 c.137G>T p.R46I Substitution - Missense 11:93738431-93738431 - Pat_63_B COSM5839826 c.353C>T p.S118L Substitution - Missense 11:93738215-93738215 - T276 COSM1357896 c.281delA p.K94fs*26 Deletion - Frameshift 11:93738287-93738287 - 451 COSM4435713 c.148C>G p.R50G Substitution - Missense 11:93738420-93738420 - TCGA-CJ-4894-01 COSM3359445 c.517C>G p.L173V Substitution - Missense 11:93737182-93737182 - TCGA-ED-A459-01 COSM4935783 c.352T>C p.S118P Substitution - Missense 11:93738216-93738216 - AOCS-108-1-7 COSM4004585 c.161G>C p.R54P Substitution - Missense 11:93738407-93738407 - TCGA-AP-A059-01 COSM933419 c.34G>A p.V12M Substitution - Missense 11:93739271-93739271 - LXFL529 COSM1197200 c.128G>C p.G43A Substitution - Missense 11:93738440-93738440 - TCGA-EJ-5517-01 COSM1127603 c.203C>T p.S68L Substitution - Missense 11:93738365-93738365 - 169 COSM3729530 c.430G>A p.A144T Substitution - Missense 11:93738138-93738138 - B96-Tumor COSM1746642 c.191C>T p.S64L Substitution - Missense 11:93738377-93738377 - TCGA-EQ-5647-01 COSM4037654 c.736A>G p.S246G Substitution - Missense 11:93736262-93736262 - TCGA-ED-A4XI-01 COSM4913323 c.62A>G p.N21S Substitution - Missense 11:93739243-93739243 - ME009T COSM223490 c.713G>A p.S238N Substitution - Missense 11:93736285-93736285 - TCGA-BR-8363-01 COSM4037655 c.306A>T p.T102T Substitution - coding silent 11:93738262-93738262 - TCGA-AY-6197-01 COSM1357893 c.605_607delATG p.D202delD Deletion - In frame 11:93737092-93737094 - 76629543 COSM1582118 c.479T>A p.F160Y Substitution - Missense 11:93737220-93737220 - B65 COSM1746641 c.574G>C p.D192H Substitution - Missense 11:93737125-93737125 - T3094 COSM4731979 c.376T>C p.F126L Substitution - Missense 11:93738192-93738192 - B96 COSM1746642 c.191C>T p.S64L Substitution - Missense 11:93738377-93738377 - TCGA-CA-6719-01 COSM1357896 c.281delA p.K94fs*26 Deletion - Frameshift 11:93738287-93738287 - TCGA-CG-4437-01 COSM4037652 c.813T>C p.T271T Substitution - coding silent 11:93736185-93736185 - TCGA-BS-A0UV-01 COSM277584 c.369G>T p.K123N Substitution - Missense 11:93738199-93738199 - HCC37T COSM1605386 c.266A>C p.K89T Substitution - Missense 11:93738302-93738302 - T3724 COSM1357896 c.281delA p.K94fs*26 Deletion - Frameshift 11:93738287-93738287 - TCGA-AA-A02R-01 COSM5126548 c.168T>C p.P56P Substitution - coding silent 11:93738400-93738400 - STC232 COSM5051218 c.588C>T p.Y196Y Substitution - coding silent 11:93737111-93737111 - TCGA-CG-4437-01 COSM4037653 c.784A>T p.K262* Substitution - Nonsense 11:93736214-93736214 - cSCCP1 COSM136027 c.261G>T p.R87S Substitution - Missense 11:93738307-93738307 - B65-Tumor COSM1746641 c.574G>C p.D192H Substitution - Missense 11:93737125-93737125 - TCGA-AX-A05Z-01 COSM933417 c.255G>A p.K85K Substitution - coding silent 11:93738313-93738313 - TCGA-DM-A28K-01 COSM1357896 c.281delA p.K94fs*26 Deletion - Frameshift 11:93738287-93738287 - AOCS-150-8-X COSM4004584 c.344C>G p.P115R Substitution - Missense 11:93738224-93738224 - 3N63-VS-3T63 COSM4984523 c.512A>C p.H171P Substitution - Missense 11:93737187-93737187 - TCGA-B5-A0JY-01 COSM933416 c.269G>T p.R90I Substitution - Missense 11:93738299-93738299 - TCGA-AA-A00N-01 COSM277584 c.369G>T p.K123N Substitution - Missense 11:93738199-93738199 - TCGA-HU-A4HD-01 COSM4037656 c.72T>A p.D24E Substitution - Missense 11:93738496-93738496 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.355750 11q21 612823

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Synonymous p.T271T c.813T>C 11 93469351 STAD C T Missense p.S238N c.713G>A 11 93469451 CM G A Missense p.S68L c.203C>T 11 93471531 PRAD G C Missense p.D10E c.30C>G 11 93472441 HNSC G C Missense p.I228M c.684C>G 11 93469869 LUAD G C Missense p.L173V c.517C>G 11 93470348 RCCC T A Nonsense p.K262* c.784A>T 11 93469380 STAD T C Missense p.S246G c.736A>G 11 93469428 STAD