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 62600558 62600558 + Missense_Mutation SNP C C T TCGA-XF-AAML-01A-11D-A42E-08 TCGA-XF-AAML-10A-01D-A42H-08 g.chr11:62600558C>T c.1024G>A c.(1024-1026)Gac>Aac p.D342N BLCA 11 62603002 62603002 + Silent SNP C C A TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 g.chr11:62603002C>A c.519G>T c.(517-519)gtG>gtT p.V173V BRCA 11 62601954 62601954 + Missense_Mutation SNP C C G TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr11:62601954C>G c.664G>C c.(664-666)Gag>Cag p.E222Q BRCA 11 62603236 62603236 + Silent SNP A A C TCGA-A2-A0T5-01A-21D-A099-09 TCGA-A2-A0T5-10A-01D-A099-09 g.chr11:62603236A>C c.447T>G c.(445-447)ggT>ggG p.G149G BRCA 11 62603453 62603453 + Nonsense_Mutation SNP T T A TCGA-B6-A0WS-01A-11D-A10Y-09 TCGA-B6-A0WS-10A-01D-A110-09 g.chr11:62603453T>A c.349A>T c.(349-351)Aag>Tag p.K117* CESC 11 62601346 62601346 + Nonsense_Mutation SNP G G C TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 g.chr11:62601346G>C c.839C>G c.(838-840)tCa>tGa p.S280* CHOL 11 62601270 62601270 + Silent SNP C C T TCGA-W6-AA0S-01A-11D-A417-09 TCGA-W6-AA0S-10A-01D-A41A-09 g.chr11:62601270C>T c.915G>A c.(913-915)gaG>gaA p.E305E COAD 11 62601906 62601906 + Missense_Mutation SNP C C T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr11:62601906C>T c.712G>A c.(712-714)Gga>Aga p.G238R COAD 11 62603451 62603451 + Missense_Mutation SNP C C A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr11:62603451C>A c.351G>T c.(349-351)aaG>aaT p.K117N COAD 11 62603451 62603451 + Silent SNP C C T TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr11:62603451C>T c.351G>A c.(349-351)aaG>aaA p.K117K COADREAD 11 62601906 62601906 + Missense_Mutation SNP C C T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr11:62601906C>T c.712G>A c.(712-714)Gga>Aga p.G238R COADREAD 11 62603451 62603451 + Missense_Mutation SNP C C A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr11:62603451C>A c.351G>T c.(349-351)aaG>aaT p.K117N COADREAD 11 62603451 62603451 + Silent SNP C C T TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr11:62603451C>T c.351G>A c.(349-351)aaG>aaA p.K117K ESCA 11 62606983 62606983 + Silent SNP C C T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 g.chr11:62606983C>T c.60G>A c.(58-60)ttG>ttA p.L20L GBM 11 62602979 62602979 + Missense_Mutation SNP C C T TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 g.chr11:62602979C>T c.542G>A c.(541-543)cGg>cAg p.R181Q GBMLGG 11 62601766 62601766 + Missense_Mutation SNP C C T TCGA-VM-A8C8-01A-11D-A36O-08 TCGA-VM-A8C8-10A-01D-A367-08 g.chr11:62601766C>T c.757G>A c.(757-759)Gaa>Aaa p.E253K GBMLGG 11 62602979 62602979 + Missense_Mutation SNP C C T TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 g.chr11:62602979C>T c.542G>A c.(541-543)cGg>cAg p.R181Q HNSC 11 62606655 62606655 + Missense_Mutation SNP C C T TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 g.chr11:62606655C>T c.224G>A c.(223-225)gGc>gAc p.G75D KICH 11 62601996 62601996 + Missense_Mutation SNP G G A TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr11:62601996G>A c.622C>T c.(622-624)Cgt>Tgt p.R208C KIPAN 11 62600570 62600570 + Missense_Mutation SNP C C A TCGA-GL-A9DC-01A-11D-A36X-10 TCGA-GL-A9DC-10A-01D-A370-10 g.chr11:62600570C>A c.1012G>T c.(1012-1014)Gtg>Ttg p.V338L KIPAN 11 62601147 62601147 + Splice_Site SNP C C A TCGA-B4-5377-01A-01D-1501-10 TCGA-B4-5377-10A-01D-1501-10 g.chr11:62601147C>A c.e11-1 KIPAN 11 62601996 62601996 + Missense_Mutation SNP G G A TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr11:62601996G>A c.622C>T c.(622-624)Cgt>Tgt p.R208C KIPAN 11 62606659 62606659 + Missense_Mutation SNP C C T TCGA-BP-4167-01A-02D-1386-10 TCGA-BP-4167-11A-01D-1251-10 g.chr11:62606659C>T c.220G>A c.(220-222)Gat>Aat p.D74N KIPAN 11 62606983 62606983 + Missense_Mutation SNP C C G TCGA-AL-7173-01A-11D-2136-08 TCGA-AL-7173-10A-01D-2136-08 g.chr11:62606983C>G c.60G>C c.(58-60)ttG>ttC p.L20F KIRC 11 62601147 62601147 + Splice_Site SNP C C A TCGA-B4-5377-01A-01D-1501-10 TCGA-B4-5377-10A-01D-1501-10 g.chr11:62601147C>A c.e11-1 KIRC 11 62606659 62606659 + Missense_Mutation SNP C C T TCGA-BP-4167-01A-02D-1386-10 TCGA-BP-4167-11A-01D-1251-10 g.chr11:62606659C>T c.220G>A c.(220-222)Gat>Aat p.D74N KIRP 11 62600570 62600570 + Missense_Mutation SNP C C A TCGA-GL-A9DC-01A-11D-A36X-10 TCGA-GL-A9DC-10A-01D-A370-10 g.chr11:62600570C>A c.1012G>T c.(1012-1014)Gtg>Ttg p.V338L KIRP 11 62606983 62606983 + Missense_Mutation SNP C C G TCGA-AL-7173-01A-11D-2136-08 TCGA-AL-7173-10A-01D-2136-08 g.chr11:62606983C>G c.60G>C c.(58-60)ttG>ttC p.L20F LGG 11 62601766 62601766 + Missense_Mutation SNP C C T TCGA-VM-A8C8-01A-11D-A36O-08 TCGA-VM-A8C8-10A-01D-A367-08 g.chr11:62601766C>T c.757G>A c.(757-759)Gaa>Aaa p.E253K LIHC 11 62600449 62600449 + Missense_Mutation SNP T T C TCGA-DD-A39Z-01A-11D-A20W-10 TCGA-DD-A39Z-11A-21D-A20W-10 g.chr11:62600449T>C c.1133A>G c.(1132-1134)aAg>aGg p.K378R LIHC 11 62601897 62601897 + Splice_Site SNP A A G TCGA-G3-AAV5-01A-11D-A36X-10 TCGA-G3-AAV5-10A-01D-A370-10 g.chr11:62601897A>G c.e8+1 LIHC 11 62607038 62607038 + Missense_Mutation SNP G G A TCGA-CC-A8HS-01A-11D-A35Z-10 TCGA-CC-A8HS-10A-01D-A35Z-10 g.chr11:62607038G>A c.5C>T c.(4-6)gCg>gTg p.A2V LUAD 11 62603205 62603205 + Missense_Mutation SNP G G C TCGA-05-4424-01A-22D-1855-08 TCGA-05-4424-10A-01D-1855-08 g.chr11:62603205G>C c.478C>G c.(478-480)Ctg>Gtg p.L160V LUAD 11 62606600 62606600 + Silent SNP G G A TCGA-05-4424-01A-22D-1855-08 TCGA-05-4424-10A-01D-1855-08 g.chr11:62606600G>A c.279C>T c.(277-279)ctC>ctT p.L93L OV 11 62601957 62601957 + Missense_Mutation SNP G G C TCGA-04-1350-01A-01W-0490-10 TCGA-04-1350-11A-01W-0490-10 g.chr11:62601957G>C c.661C>G c.(661-663)Cta>Gta p.L221V OV 11 62607022 62607022 + Silent SNP G G C TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 g.chr11:62607022G>C c.21C>G c.(19-21)cgC>cgG p.R7R PAAD 11 62601979 62601979 + Silent SNP T T C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr11:62601979T>C c.639A>G c.(637-639)gcA>gcG p.A213A SKCM 11 62601757 62601757 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 g.chr11:62601757G>A c.766C>T c.(766-768)Ctt>Ttt p.L256F SKCM 11 62603256 62603256 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 g.chr11:62603256G>A c.427C>T c.(427-429)Ccc>Tcc p.P143S SKCM 11 62606644 62606644 + Missense_Mutation SNP C C T TCGA-D3-A51J-06A-11D-A25O-08 TCGA-D3-A51J-10A-01D-A25O-08 g.chr11:62606644C>T c.235G>A c.(235-237)Ggt>Agt p.G79S

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BRCA-EU 11 62597738 62597738 single base substitution G A downstream_gene_variant BRCA-EU 11 62598777 62598777 single base substitution A G downstream_gene_variant BRCA-EU 11 62598815 62598815 single base substitution C G downstream_gene_variant BRCA-EU 11 62599375 62599375 single base substitution C T downstream_gene_variant BRCA-EU 11 62600258 62600258 single base substitution C A downstream_gene_variant BRCA-EU 11 62600258 62600258 single base substitution C A intron_variant BRCA-EU 11 62600988 62600988 single base substitution G C downstream_gene_variant BRCA-EU 11 62600988 62600988 single base substitution G C intron_variant BRCA-EU 11 62600988 62600988 single base substitution G C upstream_gene_variant BRCA-EU 11 62601697 62601697 single base substitution G C downstream_gene_variant BRCA-EU 11 62601697 62601697 single base substitution G C intron_variant BRCA-EU 11 62601697 62601697 single base substitution G C upstream_gene_variant BRCA-EU 11 62601754 62601754 single base substitution G T 3_prime_UTR_variant BRCA-EU 11 62601754 62601754 single base substitution G T downstream_gene_variant BRCA-EU 11 62601754 62601754 single base substitution G T exon_variant BRCA-EU 11 62601754 62601754 single base substitution G T synonymous_variant R200R 598C>A BRCA-EU 11 62601754 62601754 single base substitution G T synonymous_variant R257R 769C>A BRCA-EU 11 62601754 62601754 single base substitution G T upstream_gene_variant BRCA-EU 11 62602450 62602450 single base substitution C T downstream_gene_variant BRCA-EU 11 62602450 62602450 single base substitution C T exon_variant BRCA-EU 11 62602450 62602450 single base substitution C T intron_variant BRCA-EU 11 62602450 62602450 single base substitution C T upstream_gene_variant BRCA-EU 11 62602986 62602986 single base substitution C A 3_prime_UTR_variant BRCA-EU 11 62602986 62602986 single base substitution C A downstream_gene_variant BRCA-EU 11 62602986 62602986 single base substitution C A exon_variant BRCA-EU 11 62602986 62602986 single base substitution C A missense_variant D122Y 364G>T BRCA-EU 11 62602986 62602986 single base substitution C A missense_variant D179Y 535G>T BRCA-EU 11 62602986 62602986 single base substitution C A upstream_gene_variant BRCA-EU 11 62603856 62603856 single base substitution T A downstream_gene_variant BRCA-EU 11 62603856 62603856 single base substitution T A exon_variant BRCA-EU 11 62603856 62603856 single base substitution T A intron_variant BRCA-EU 11 62603856 62603856 single base substitution T A upstream_gene_variant BRCA-EU 11 62605551 62605551 single base substitution G T downstream_gene_variant BRCA-EU 11 62605551 62605551 single base substitution G T intron_variant BRCA-EU 11 62605551 62605551 single base substitution G T upstream_gene_variant BRCA-EU 11 62606028 62606028 single base substitution C T downstream_gene_variant BRCA-EU 11 62606028 62606028 single base substitution C T intron_variant BRCA-EU 11 62606028 62606028 single base substitution C T upstream_gene_variant BRCA-EU 11 62606253 62606253 single base substitution A G downstream_gene_variant BRCA-EU 11 62606253 62606253 single base substitution A G intron_variant BRCA-EU 11 62606253 62606253 single base substitution A G upstream_gene_variant BRCA-EU 11 62607151 62607151 single base substitution A G 5_prime_UTR_variant BRCA-EU 11 62607151 62607151 single base substitution A G intron_variant BRCA-EU 11 62607151 62607151 single base substitution A G upstream_gene_variant BRCA-EU 11 62607812 62607812 single base substitution G C 5_prime_UTR_variant BRCA-EU 11 62607812 62607812 single base substitution G C intron_variant BRCA-EU 11 62607812 62607812 single base substitution G C upstream_gene_variant BRCA-EU 11 62608436 62608436 single base substitution C G intron_variant BRCA-EU 11 62608436 62608436 single base substitution C G upstream_gene_variant BRCA-EU 11 62608581 62608581 single base substitution G C intron_variant BRCA-EU 11 62608581 62608581 single base substitution G C upstream_gene_variant BRCA-EU 11 62608610 62608610 single base substitution G A intron_variant BRCA-EU 11 62608610 62608610 single base substitution G A upstream_gene_variant BRCA-EU 11 62608916 62608916 single base substitution C T intron_variant BRCA-EU 11 62608916 62608916 single base substitution C T upstream_gene_variant BRCA-EU 11 62608974 62608974 single base substitution C T intron_variant BRCA-EU 11 62608974 62608974 single base substitution C T upstream_gene_variant BRCA-EU 11 62609008 62609008 single base substitution C T intron_variant BRCA-EU 11 62609008 62609008 single base substitution C T upstream_gene_variant BRCA-EU 11 62609081 62609081 single base substitution C T 5_prime_UTR_variant BRCA-EU 11 62609081 62609081 single base substitution C T upstream_gene_variant BRCA-EU 11 62609310 62609344 deletion of <=200bp TATCCTTCCCATCTTCCAACCAGTTATGGTAACTA - upstream_gene_variant BRCA-EU 11 62609325 62609350 deletion of <=200bp CCAACCAGTTATGGTAACTATCCAGG - upstream_gene_variant BRCA-EU 11 62609327 62609327 single base substitution A G upstream_gene_variant BRCA-EU 11 62609329 62609329 single base substitution C A upstream_gene_variant BRCA-EU 11 62609330 62609330 single base substitution C A upstream_gene_variant BRCA-EU 11 62609331 62609331 single base substitution A G upstream_gene_variant BRCA-EU 11 62609333 62609333 deletion of <=200bp T - upstream_gene_variant BRCA-EU 11 62609341 62609341 single base substitution A C upstream_gene_variant BRCA-EU 11 62609473 62609473 single base substitution G A upstream_gene_variant BRCA-EU 11 62609488 62609488 single base substitution C T upstream_gene_variant BRCA-EU 11 62610219 62610219 deletion of <=200bp T - upstream_gene_variant BRCA-EU 11 62610990 62610990 single base substitution G C upstream_gene_variant BRCA-EU 11 62610997 62610997 single base substitution T G upstream_gene_variant BRCA-EU 11 62611926 62611926 single base substitution G A upstream_gene_variant BRCA-EU 11 62612559 62612559 single base substitution C A upstream_gene_variant BRCA-EU 11 62612985 62612985 single base substitution G T upstream_gene_variant BRCA-EU 11 62613426 62613426 single base substitution T A upstream_gene_variant BRCA-EU 11 62613567 62613567 single base substitution G T upstream_gene_variant BRCA-EU 11 62614086 62614086 single base substitution G A upstream_gene_variant BRCA-EU 11 62614224 62614224 single base substitution G A upstream_gene_variant BRCA-FR 11 62597594 62597594 single base substitution C G downstream_gene_variant BRCA-FR 11 62611970 62611970 single base substitution C T upstream_gene_variant BRCA-UK 11 62600122 62600122 single base substitution C T downstream_gene_variant BRCA-UK 11 62600122 62600122 single base substitution C T intron_variant BRCA-UK 11 62601697 62601697 single base substitution G C downstream_gene_variant BRCA-UK 11 62601697 62601697 single base substitution G C intron_variant BRCA-UK 11 62601697 62601697 single base substitution G C upstream_gene_variant BRCA-US 11 62595056 62595056 single base substitution G A downstream_gene_variant BRCA-US 11 62598707 62598707 single base substitution C G downstream_gene_variant BRCA-US 11 62601954 62601954 single base substitution C G 3_prime_UTR_variant BRCA-US 11 62601954 62601954 single base substitution C G downstream_gene_variant BRCA-US 11 62601954 62601954 single base substitution C G exon_variant BRCA-US 11 62601954 62601954 single base substitution C G missense_variant E165Q 493G>C BRCA-US 11 62601954 62601954 single base substitution C G missense_variant E222Q 664G>C BRCA-US 11 62601954 62601954 single base substitution C G upstream_gene_variant BRCA-US 11 62603236 62603236 single base substitution A C 3_prime_UTR_variant BRCA-US 11 62603236 62603236 single base substitution A C downstream_gene_variant BRCA-US 11 62603236 62603236 single base substitution A C exon_variant BRCA-US 11 62603236 62603236 single base substitution A C synonymous_variant G149G 447T>G BRCA-US 11 62603236 62603236 single base substitution A C synonymous_variant G92G 276T>G BRCA-US 11 62603236 62603236 single base substitution A C upstream_gene_variant BRCA-US 11 62603453 62603453 single base substitution T A 3_prime_UTR_variant BRCA-US 11 62603453 62603453 single base substitution T A downstream_gene_variant BRCA-US 11 62603453 62603453 single base substitution T A exon_variant BRCA-US 11 62603453 62603453 single base substitution T A stop_gained K117* 349A>T BRCA-US 11 62603453 62603453 single base substitution T A stop_gained K60* 178A>T BRCA-US 11 62603453 62603453 single base substitution T A upstream_gene_variant BRCA-US 11 62609178 62609178 single base substitution A G 5_prime_UTR_variant BRCA-US 11 62609178 62609178 single base substitution A G upstream_gene_variant BRCA-US 11 62609220 62609220 single base substitution A G 5_prime_UTR_variant BRCA-US 11 62609220 62609220 single base substitution A G upstream_gene_variant BRCA-US 11 62609253 62609253 insertion of <=200bp - A 5_prime_UTR_variant BRCA-US 11 62609253 62609253 insertion of <=200bp - A upstream_gene_variant BTCA-JP 11 62601049 62601049 single base substitution C A downstream_gene_variant BTCA-JP 11 62601049 62601049 single base substitution C A intron_variant BTCA-JP 11 62601049 62601049 single base substitution C A upstream_gene_variant BTCA-JP 11 62601812 62601812 single base substitution G A downstream_gene_variant BTCA-JP 11 62601812 62601812 single base substitution G A intron_variant BTCA-JP 11 62601812 62601812 single base substitution G A upstream_gene_variant BTCA-JP 11 62606964 62606964 single base substitution G A exon_variant BTCA-JP 11 62606964 62606964 single base substitution G A intron_variant BTCA-JP 11 62606964 62606964 single base substitution G A upstream_gene_variant CESC-US 11 62601346 62601346 single base substitution G C 3_prime_UTR_variant CESC-US 11 62601346 62601346 single base substitution G C downstream_gene_variant CESC-US 11 62601346 62601346 single base substitution G C exon_variant CESC-US 11 62601346 62601346 single base substitution G C stop_gained S223* 668C>G CESC-US 11 62601346 62601346 single base substitution G C stop_gained S280* 839C>G CESC-US 11 62601346 62601346 single base substitution G C upstream_gene_variant CESC-US 11 62601423 62601423 single base substitution G T downstream_gene_variant CESC-US 11 62601423 62601423 single base substitution G T intron_variant CESC-US 11 62601423 62601423 single base substitution G T upstream_gene_variant CLLE-ES 11 62607391 62607391 single base substitution T C intron_variant CLLE-ES 11 62607391 62607391 single base substitution T C upstream_gene_variant CLLE-ES 11 62608650 62608650 insertion of <=200bp - GTG intron_variant CLLE-ES 11 62608650 62608650 insertion of <=200bp - GTG upstream_gene_variant CLLE-ES 11 62608801 62608801 single base substitution T G intron_variant CLLE-ES 11 62608801 62608801 single base substitution T G upstream_gene_variant CLLE-ES 11 62609204 62609204 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant CLLE-ES 11 62609204 62609204 single base substitution G A upstream_gene_variant COAD-US 11 62594833 62594833 single base substitution G A downstream_gene_variant COAD-US 11 62598584 62598584 insertion of <=200bp - G downstream_gene_variant COAD-US 11 62598585 62598585 deletion of <=200bp G - downstream_gene_variant COAD-US 11 62601906 62601906 single base substitution C T 3_prime_UTR_variant COAD-US 11 62601906 62601906 single base substitution C T downstream_gene_variant COAD-US 11 62601906 62601906 single base substitution C T exon_variant COAD-US 11 62601906 62601906 single base substitution C T missense_variant G181R 541G>A COAD-US 11 62601906 62601906 single base substitution C T missense_variant G238R 712G>A COAD-US 11 62601906 62601906 single base substitution C T upstream_gene_variant COCA-CN 11 62598044 62598044 single base substitution T C downstream_gene_variant COCA-CN 11 62598773 62598773 single base substitution C A downstream_gene_variant COCA-CN 11 62600648 62600648 single base substitution G A downstream_gene_variant COCA-CN 11 62600648 62600648 single base substitution G A intron_variant COCA-CN 11 62600648 62600648 single base substitution G A upstream_gene_variant COCA-CN 11 62603377 62603377 single base substitution C A downstream_gene_variant COCA-CN 11 62603377 62603377 single base substitution C A exon_variant COCA-CN 11 62603377 62603377 single base substitution C A intron_variant COCA-CN 11 62603377 62603377 single base substitution C A upstream_gene_variant COCA-CN 11 62603448 62603448 single base substitution G A 3_prime_UTR_variant COCA-CN 11 62603448 62603448 single base substitution G A downstream_gene_variant COCA-CN 11 62603448 62603448 single base substitution G A exon_variant COCA-CN 11 62603448 62603448 single base substitution G A synonymous_variant D118D 354C>T COCA-CN 11 62603448 62603448 single base substitution G A synonymous_variant D61D 183C>T COCA-CN 11 62603448 62603448 single base substitution G A upstream_gene_variant COCA-CN 11 62606145 62606145 single base substitution G T downstream_gene_variant COCA-CN 11 62606145 62606145 single base substitution G T intron_variant COCA-CN 11 62606145 62606145 single base substitution G T upstream_gene_variant COCA-CN 11 62607088 62607088 single base substitution G A 5_prime_UTR_variant COCA-CN 11 62607088 62607088 single base substitution G A upstream_gene_variant COCA-CN 11 62609171 62609171 single base substitution T C 5_prime_UTR_premature_start_codon_gain_variant COCA-CN 11 62609171 62609171 single base substitution T C upstream_gene_variant COCA-CN 11 62609172 62609172 single base substitution A T 5_prime_UTR_variant COCA-CN 11 62609172 62609172 single base substitution A T upstream_gene_variant COCA-CN 11 62609173 62609173 single base substitution T G 5_prime_UTR_variant COCA-CN 11 62609173 62609173 single base substitution T G upstream_gene_variant COCA-CN 11 62609174 62609174 single base substitution T C 5_prime_UTR_variant COCA-CN 11 62609174 62609174 single base substitution T C upstream_gene_variant COCA-CN 11 62609183 62609183 single base substitution T C 5_prime_UTR_variant COCA-CN 11 62609183 62609183 single base substitution T C upstream_gene_variant EOPC-DE 11 62596256 62596256 single base substitution T C downstream_gene_variant ESAD-UK 11 62596654 62596654 single base substitution T C downstream_gene_variant ESAD-UK 11 62599157 62599157 single base substitution C A downstream_gene_variant ESAD-UK 11 62601456 62601456 single base substitution A T downstream_gene_variant ESAD-UK 11 62601456 62601456 single base substitution A T intron_variant ESAD-UK 11 62601456 62601456 single base substitution A T upstream_gene_variant ESAD-UK 11 62601965 62601965 single base substitution C A 3_prime_UTR_variant ESAD-UK 11 62601965 62601965 single base substitution C A downstream_gene_variant ESAD-UK 11 62601965 62601965 single base substitution C A exon_variant ESAD-UK 11 62601965 62601965 single base substitution C A missense_variant R161L 482G>T ESAD-UK 11 62601965 62601965 single base substitution C A missense_variant R218L 653G>T ESAD-UK 11 62601965 62601965 single base substitution C A upstream_gene_variant ESAD-UK 11 62604252 62604252 single base substitution A T downstream_gene_variant ESAD-UK 11 62604252 62604252 single base substitution A T intron_variant ESAD-UK 11 62604252 62604252 single base substitution A T upstream_gene_variant ESAD-UK 11 62606628 62606628 single base substitution G A 3_prime_UTR_variant ESAD-UK 11 62606628 62606628 single base substitution G A downstream_gene_variant ESAD-UK 11 62606628 62606628 single base substitution G A exon_variant ESAD-UK 11 62606628 62606628 single base substitution G A missense_variant P27L 80C>T ESAD-UK 11 62606628 62606628 single base substitution G A missense_variant P84L 251C>T ESAD-UK 11 62606628 62606628 single base substitution G A upstream_gene_variant ESAD-UK 11 62608749 62608749 single base substitution A T intron_variant ESAD-UK 11 62608749 62608749 single base substitution A T upstream_gene_variant ESAD-UK 11 62609093 62609093 deletion of <=200bp A - 5_prime_UTR_variant ESAD-UK 11 62609093 62609093 deletion of <=200bp A - upstream_gene_variant ESAD-UK 11 62609095 62609095 deletion of <=200bp A - 5_prime_UTR_variant ESAD-UK 11 62609095 62609095 deletion of <=200bp A - upstream_gene_variant ESAD-UK 11 62609259 62609259 insertion of <=200bp - A 5_prime_UTR_variant ESAD-UK 11 62609259 62609259 insertion of <=200bp - A upstream_gene_variant ESAD-UK 11 62609323 62609323 single base substitution T G upstream_gene_variant ESAD-UK 11 62609329 62609329 single base substitution C A upstream_gene_variant ESAD-UK 11 62609330 62609330 single base substitution C A upstream_gene_variant ESAD-UK 11 62611018 62611018 single base substitution G A upstream_gene_variant ESAD-UK 11 62611314 62611314 single base substitution C A upstream_gene_variant ESAD-UK 11 62611387 62611387 single base substitution G A upstream_gene_variant ESAD-UK 11 62611521 62611521 single base substitution G A upstream_gene_variant ESAD-UK 11 62612210 62612210 single base substitution C T upstream_gene_variant ESAD-UK 11 62612798 62612798 deletion of <=200bp T - upstream_gene_variant ESAD-UK 11 62613031 62613031 single base substitution C T upstream_gene_variant ESAD-UK 11 62613072 62613072 deletion of <=200bp T - upstream_gene_variant ESAD-UK 11 62613086 62613086 deletion of <=200bp T - upstream_gene_variant ESAD-UK 11 62613109 62613109 single base substitution A G upstream_gene_variant ESAD-UK 11 62613963 62613963 single base substitution C T upstream_gene_variant ESCA-CN 11 62598593 62598593 single base substitution C A downstream_gene_variant GBM-US 11 62602979 62602979 single base substitution C T 3_prime_UTR_variant GBM-US 11 62602979 62602979 single base substitution C T downstream_gene_variant GBM-US 11 62602979 62602979 single base substitution C T exon_variant GBM-US 11 62602979 62602979 single base substitution C T missense_variant R124Q 371G>A GBM-US 11 62602979 62602979 single base substitution C T missense_variant R181Q 542G>A GBM-US 11 62602979 62602979 single base substitution C T upstream_gene_variant KIRC-US 11 62601147 62601147 single base substitution C A downstream_gene_variant KIRC-US 11 62601147 62601147 single base substitution C A exon_variant KIRC-US 11 62601147 62601147 single base substitution C A intron_variant KIRC-US 11 62601147 62601147 single base substitution C A splice_acceptor_variant KIRC-US 11 62601147 62601147 single base substitution C A upstream_gene_variant KIRC-US 11 62606659 62606659 single base substitution C T 3_prime_UTR_variant KIRC-US 11 62606659 62606659 single base substitution C T downstream_gene_variant KIRC-US 11 62606659 62606659 single base substitution C T exon_variant KIRC-US 11 62606659 62606659 single base substitution C T missense_variant D17N 49G>A KIRC-US 11 62606659 62606659 single base substitution C T missense_variant D74N 220G>A KIRC-US 11 62606659 62606659 single base substitution C T upstream_gene_variant KIRP-US 11 62606983 62606983 single base substitution C G exon_variant KIRP-US 11 62606983 62606983 single base substitution C G intron_variant KIRP-US 11 62606983 62606983 single base substitution C G missense_variant L20F 60G>C KIRP-US 11 62606983 62606983 single base substitution C G upstream_gene_variant LAML-KR 11 62596256 62596256 single base substitution T C downstream_gene_variant LAML-KR 11 62596261 62596261 single base substitution A G downstream_gene_variant LICA-FR 11 62606991 62606991 single base substitution C G exon_variant LICA-FR 11 62606991 62606991 single base substitution C G intron_variant LICA-FR 11 62606991 62606991 single base substitution C G missense_variant G18R 52G>C LICA-FR 11 62606991 62606991 single base substitution C G upstream_gene_variant LICA-FR 11 62609572 62609572 single base substitution C G upstream_gene_variant LICA-FR 11 62610876 62610876 deletion of <=200bp A - upstream_gene_variant LINC-JP 11 62604980 62604980 single base substitution C A downstream_gene_variant LINC-JP 11 62604980 62604980 single base substitution C A intron_variant LINC-JP 11 62604980 62604980 single base substitution C A upstream_gene_variant LINC-JP 11 62607111 62607111 single base substitution C T 5_prime_UTR_variant LINC-JP 11 62607111 62607111 single base substitution C T upstream_gene_variant LINC-JP 11 62609031 62609031 single base substitution T C intron_variant LINC-JP 11 62609031 62609031 single base substitution T C upstream_gene_variant LINC-JP 11 62609093 62609093 deletion of <=200bp A - 5_prime_UTR_variant LINC-JP 11 62609093 62609093 deletion of <=200bp A - upstream_gene_variant LINC-JP 11 62609095 62609095 deletion of <=200bp A - 5_prime_UTR_variant LINC-JP 11 62609095 62609095 deletion of <=200bp A - upstream_gene_variant LINC-JP 11 62609112 62609112 single base substitution A G 5_prime_UTR_variant LINC-JP 11 62609112 62609112 single base substitution A G upstream_gene_variant LINC-JP 11 62609281 62609281 single base substitution T C 5_prime_UTR_variant LINC-JP 11 62609281 62609281 single base substitution T C upstream_gene_variant LINC-JP 11 62609505 62609505 deletion of <=200bp A - upstream_gene_variant LIRI-JP 11 62595878 62595878 single base substitution T C downstream_gene_variant LIRI-JP 11 62596488 62596488 single base substitution T C downstream_gene_variant LIRI-JP 11 62597498 62597498 single base substitution T C downstream_gene_variant LIRI-JP 11 62597907 62597907 single base substitution T C downstream_gene_variant LIRI-JP 11 62600231 62600231 single base substitution G T downstream_gene_variant LIRI-JP 11 62600231 62600231 single base substitution G T intron_variant LIRI-JP 11 62602106 62602106 single base substitution C T downstream_gene_variant LIRI-JP 11 62602106 62602106 single base substitution C T exon_variant LIRI-JP 11 62602106 62602106 single base substitution C T intron_variant LIRI-JP 11 62602106 62602106 single base substitution C T upstream_gene_variant LIRI-JP 11 62602309 62602309 single base substitution G A downstream_gene_variant LIRI-JP 11 62602309 62602309 single base substitution G A intron_variant LIRI-JP 11 62602309 62602309 single base substitution G A upstream_gene_variant LIRI-JP 11 62602313 62602313 single base substitution A T downstream_gene_variant LIRI-JP 11 62602313 62602313 single base substitution A T intron_variant LIRI-JP 11 62602313 62602313 single base substitution A T upstream_gene_variant LIRI-JP 11 62605703 62605703 single base substitution C T downstream_gene_variant LIRI-JP 11 62605703 62605703 single base substitution C T intron_variant LIRI-JP 11 62605703 62605703 single base substitution C T upstream_gene_variant LIRI-JP 11 62606132 62606132 single base substitution A C downstream_gene_variant LIRI-JP 11 62606132 62606132 single base substitution A C intron_variant LIRI-JP 11 62606132 62606132 single base substitution A C upstream_gene_variant LIRI-JP 11 62606959 62606959 single base substitution C T exon_variant LIRI-JP 11 62606959 62606959 single base substitution C T intron_variant LIRI-JP 11 62606959 62606959 single base substitution C T upstream_gene_variant LIRI-JP 11 62607034 62607034 single base substitution A C 5_prime_UTR_variant LIRI-JP 11 62607034 62607034 single base substitution A C exon_variant LIRI-JP 11 62607034 62607034 single base substitution A C synonymous_variant A3A 9T>G LIRI-JP 11 62607034 62607034 single base substitution A C upstream_gene_variant LIRI-JP 11 62607871 62607871 single base substitution C A intron_variant LIRI-JP 11 62607871 62607871 single base substitution C A upstream_gene_variant LIRI-JP 11 62608104 62608104 single base substitution A G intron_variant LIRI-JP 11 62608104 62608104 single base substitution A G upstream_gene_variant LIRI-JP 11 62609013 62609013 insertion of <=200bp - A intron_variant LIRI-JP 11 62609013 62609013 insertion of <=200bp - A upstream_gene_variant LIRI-JP 11 62609051 62609051 single base substitution C T 5_prime_UTR_variant LIRI-JP 11 62609051 62609051 single base substitution C T upstream_gene_variant LIRI-JP 11 62609138 62609138 single base substitution G T 5_prime_UTR_variant LIRI-JP 11 62609138 62609138 single base substitution G T upstream_gene_variant LIRI-JP 11 62609185 62609185 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant LIRI-JP 11 62609185 62609185 single base substitution C A upstream_gene_variant LIRI-JP 11 62609218 62609218 single base substitution T C 5_prime_UTR_variant LIRI-JP 11 62609218 62609218 single base substitution T C upstream_gene_variant LIRI-JP 11 62609259 62609259 single base substitution T C 5_prime_UTR_premature_start_codon_gain_variant LIRI-JP 11 62609259 62609259 single base substitution T C upstream_gene_variant LIRI-JP 11 62609331 62609331 single base substitution A G upstream_gene_variant LIRI-JP 11 62609344 62609344 single base substitution A G upstream_gene_variant LIRI-JP 11 62609389 62609389 single base substitution C T upstream_gene_variant LIRI-JP 11 62610987 62610987 single base substitution G A upstream_gene_variant LIRI-JP 11 62611298 62611298 single base substitution C T upstream_gene_variant LIRI-JP 11 62612017 62612017 single base substitution T C upstream_gene_variant LIRI-JP 11 62612902 62612902 single base substitution G C upstream_gene_variant LUSC-KR 11 62596256 62596256 single base substitution T C downstream_gene_variant LUSC-KR 11 62596474 62596474 single base substitution G A downstream_gene_variant LUSC-KR 11 62596521 62596521 single base substitution G C downstream_gene_variant LUSC-KR 11 62596716 62596716 single base substitution G A downstream_gene_variant LUSC-KR 11 62597220 62597220 single base substitution G C downstream_gene_variant LUSC-KR 11 62598919 62598919 single base substitution G T downstream_gene_variant LUSC-KR 11 62600105 62600105 single base substitution C T downstream_gene_variant LUSC-KR 11 62600105 62600105 single base substitution C T intron_variant LUSC-KR 11 62609052 62609052 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant LUSC-KR 11 62609052 62609052 single base substitution G A upstream_gene_variant LUSC-KR 11 62609057 62609057 single base substitution C T 5_prime_UTR_variant LUSC-KR 11 62609057 62609057 single base substitution C T upstream_gene_variant LUSC-KR 11 62609081 62609081 single base substitution C T 5_prime_UTR_variant LUSC-KR 11 62609081 62609081 single base substitution C T upstream_gene_variant LUSC-KR 11 62609167 62609167 single base substitution C G 5_prime_UTR_variant LUSC-KR 11 62609167 62609167 single base substitution C G upstream_gene_variant LUSC-KR 11 62609254 62609254 single base substitution G A 5_prime_UTR_variant LUSC-KR 11 62609254 62609254 single base substitution G A upstream_gene_variant LUSC-KR 11 62609329 62609329 single base substitution C T upstream_gene_variant LUSC-KR 11 62612409 62612409 single base substitution C T upstream_gene_variant LUSC-US 11 62595044 62595044 single base substitution G A downstream_gene_variant MALY-DE 11 62597657 62597657 single base substitution G T downstream_gene_variant MALY-DE 11 62598609 62598609 single base substitution C T downstream_gene_variant MALY-DE 11 62601557 62601557 single base substitution T C downstream_gene_variant MALY-DE 11 62601557 62601557 single base substitution T C intron_variant MALY-DE 11 62601557 62601557 single base substitution T C upstream_gene_variant MALY-DE 11 62605624 62605624 deletion of <=200bp T - downstream_gene_variant MALY-DE 11 62605624 62605624 deletion of <=200bp T - intron_variant MALY-DE 11 62605624 62605624 deletion of <=200bp T - upstream_gene_variant MALY-DE 11 62608737 62608737 single base substitution T G intron_variant MALY-DE 11 62608737 62608737 single base substitution T G upstream_gene_variant MALY-DE 11 62609026 62609026 single base substitution C T intron_variant MALY-DE 11 62609026 62609026 single base substitution C T upstream_gene_variant MALY-DE 11 62609041 62609041 single base substitution C T splice_region_variant MALY-DE 11 62609041 62609041 single base substitution C T upstream_gene_variant MALY-DE 11 62609051 62609051 single base substitution C G 5_prime_UTR_variant MALY-DE 11 62609051 62609051 single base substitution C G upstream_gene_variant MALY-DE 11 62609071 62609071 single base substitution C T 5_prime_UTR_variant MALY-DE 11 62609071 62609071 single base substitution C T upstream_gene_variant MALY-DE 11 62611604 62611604 single base substitution A G upstream_gene_variant MELA-AU 11 62594908 62594908 single base substitution G A downstream_gene_variant MELA-AU 11 62595152 62595152 single base substitution T A downstream_gene_variant MELA-AU 11 62595573 62595573 single base substitution G A downstream_gene_variant MELA-AU 11 62596181 62596181 single base substitution G A downstream_gene_variant MELA-AU 11 62596238 62596238 single base substitution T C downstream_gene_variant MELA-AU 11 62596400 62596400 single base substitution C T downstream_gene_variant MELA-AU 11 62596519 62596519 single base substitution G A downstream_gene_variant MELA-AU 11 62596884 62596884 single base substitution G A downstream_gene_variant MELA-AU 11 62597993 62597993 single base substitution C T downstream_gene_variant MELA-AU 11 62598173 62598173 single base substitution C T downstream_gene_variant MELA-AU 11 62599180 62599180 single base substitution G A downstream_gene_variant MELA-AU 11 62599181 62599181 single base substitution G A downstream_gene_variant MELA-AU 11 62599604 62599604 single base substitution G A downstream_gene_variant MELA-AU 11 62599636 62599636 single base substitution G A downstream_gene_variant MELA-AU 11 62599641 62599641 single base substitution C T downstream_gene_variant MELA-AU 11 62599728 62599728 single base substitution G A downstream_gene_variant MELA-AU 11 62601527 62601527 single base substitution G A downstream_gene_variant MELA-AU 11 62601527 62601527 single base substitution G A intron_variant MELA-AU 11 62601527 62601527 single base substitution G A upstream_gene_variant MELA-AU 11 62602133 62602133 single base substitution T C downstream_gene_variant MELA-AU 11 62602133 62602133 single base substitution T C exon_variant MELA-AU 11 62602133 62602133 single base substitution T C intron_variant MELA-AU 11 62602133 62602133 single base substitution T C upstream_gene_variant MELA-AU 11 62604404 62604404 single base substitution T A downstream_gene_variant MELA-AU 11 62604404 62604404 single base substitution T A intron_variant MELA-AU 11 62604404 62604404 single base substitution T A upstream_gene_variant MELA-AU 11 62606901 62606901 single base substitution C T 3_prime_UTR_variant MELA-AU 11 62606901 62606901 single base substitution C T exon_variant MELA-AU 11 62606901 62606901 single base substitution C T splice_acceptor_variant MELA-AU 11 62606901 62606901 single base substitution C T upstream_gene_variant MELA-AU 11 62607074 62607074 single base substitution C T 5_prime_UTR_variant MELA-AU 11 62607074 62607074 single base substitution C T upstream_gene_variant MELA-AU 11 62607111 62607111 single base substitution C T 5_prime_UTR_variant MELA-AU 11 62607111 62607111 single base substitution C T upstream_gene_variant MELA-AU 11 62607727 62607727 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 11 62607727 62607727 single base substitution G A intron_variant MELA-AU 11 62607727 62607727 single base substitution G A upstream_gene_variant MELA-AU 11 62608432 62608432 single base substitution G A intron_variant MELA-AU 11 62608432 62608432 single base substitution G A upstream_gene_variant MELA-AU 11 62608741 62608741 single base substitution A G intron_variant MELA-AU 11 62608741 62608741 single base substitution A G upstream_gene_variant MELA-AU 11 62608816 62608816 single base substitution G A intron_variant MELA-AU 11 62608816 62608816 single base substitution G A upstream_gene_variant MELA-AU 11 62608817 62608817 single base substitution A C intron_variant MELA-AU 11 62608817 62608817 single base substitution A C upstream_gene_variant MELA-AU 11 62608971 62608971 single base substitution A T intron_variant MELA-AU 11 62608971 62608971 single base substitution A T upstream_gene_variant MELA-AU 11 62608974 62608974 single base substitution C A intron_variant MELA-AU 11 62608974 62608974 single base substitution C A upstream_gene_variant MELA-AU 11 62609019 62609019 single base substitution A G intron_variant MELA-AU 11 62609019 62609019 single base substitution A G upstream_gene_variant MELA-AU 11 62609052 62609052 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 11 62609052 62609052 single base substitution G A upstream_gene_variant MELA-AU 11 62609073 62609073 single base substitution G A 5_prime_UTR_variant MELA-AU 11 62609073 62609073 single base substitution G A upstream_gene_variant MELA-AU 11 62609190 62609190 single base substitution A C 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 11 62609190 62609190 single base substitution A C upstream_gene_variant MELA-AU 11 62609196 62609196 single base substitution T C 5_prime_UTR_variant MELA-AU 11 62609196 62609196 single base substitution T C upstream_gene_variant MELA-AU 11 62609211 62609211 single base substitution G A 5_prime_UTR_variant MELA-AU 11 62609211 62609211 single base substitution G A upstream_gene_variant MELA-AU 11 62609232 62609232 single base substitution G A 5_prime_UTR_variant MELA-AU 11 62609232 62609232 single base substitution G A upstream_gene_variant MELA-AU 11 62609253 62609253 single base substitution T C 5_prime_UTR_variant MELA-AU 11 62609253 62609253 single base substitution T C upstream_gene_variant MELA-AU 11 62609261 62609261 single base substitution G A 5_prime_UTR_variant MELA-AU 11 62609261 62609261 single base substitution G A upstream_gene_variant MELA-AU 11 62609287 62609287 single base substitution T A upstream_gene_variant MELA-AU 11 62609438 62609438 single base substitution G A upstream_gene_variant MELA-AU 11 62609468 62609468 single base substitution C T upstream_gene_variant MELA-AU 11 62609509 62609509 single base substitution C T upstream_gene_variant MELA-AU 11 62609514 62609514 single base substitution C T upstream_gene_variant MELA-AU 11 62609519 62609519 single base substitution C T upstream_gene_variant MELA-AU 11 62609533 62609533 single base substitution C T upstream_gene_variant MELA-AU 11 62610138 62610138 single base substitution C T upstream_gene_variant MELA-AU 11 62610282 62610282 single base substitution G A upstream_gene_variant MELA-AU 11 62610673 62610673 single base substitution C T upstream_gene_variant MELA-AU 11 62610863 62610863 single base substitution G A upstream_gene_variant MELA-AU 11 62611322 62611322 single base substitution G A upstream_gene_variant MELA-AU 11 62611448 62611448 single base substitution C T upstream_gene_variant MELA-AU 11 62611724 62611724 single base substitution T A upstream_gene_variant MELA-AU 11 62612136 62612136 single base substitution G A upstream_gene_variant MELA-AU 11 62612379 62612379 single base substitution T G upstream_gene_variant MELA-AU 11 62612584 62612584 single base substitution G A upstream_gene_variant MELA-AU 11 62613213 62613213 single base substitution G A upstream_gene_variant MELA-AU 11 62613244 62613244 single base substitution G A upstream_gene_variant MELA-AU 11 62613381 62613381 single base substitution G T upstream_gene_variant MELA-AU 11 62613388 62613388 single base substitution C T upstream_gene_variant MELA-AU 11 62613398 62613398 single base substitution C T upstream_gene_variant MELA-AU 11 62613441 62613441 single base substitution C T upstream_gene_variant MELA-AU 11 62613658 62613658 single base substitution C T upstream_gene_variant MELA-AU 11 62614091 62614091 single base substitution A G upstream_gene_variant OV-AU 11 62599274 62599274 single base substitution T A downstream_gene_variant OV-AU 11 62601867 62601867 single base substitution A C downstream_gene_variant OV-AU 11 62601867 62601867 single base substitution A C exon_variant OV-AU 11 62601867 62601867 single base substitution A C intron_variant OV-AU 11 62601867 62601867 single base substitution A C upstream_gene_variant OV-AU 11 62608877 62608877 single base substitution G A intron_variant OV-AU 11 62608877 62608877 single base substitution G A upstream_gene_variant OV-AU 11 62609103 62609103 single base substitution G T 5_prime_UTR_variant OV-AU 11 62609103 62609103 single base substitution G T upstream_gene_variant OV-AU 11 62609247 62609247 single base substitution T C 5_prime_UTR_variant OV-AU 11 62609247 62609247 single base substitution T C upstream_gene_variant OV-AU 11 62609328 62609328 single base substitution A G upstream_gene_variant OV-AU 11 62609557 62609557 single base substitution C A upstream_gene_variant OV-AU 11 62609591 62609591 single base substitution C G upstream_gene_variant PACA-AU 11 62596821 62596821 single base substitution G A downstream_gene_variant PACA-AU 11 62597224 62597224 single base substitution G A downstream_gene_variant PACA-AU 11 62597633 62597677 deletion of <=200bp GCTTTTTTTTTTTTTTTTCCTGTAGAAACAGGGTCTTGCTTTGTT - downstream_gene_variant PACA-AU 11 62597914 62597914 single base substitution G A downstream_gene_variant PACA-AU 11 62600872 62600872 single base substitution C T downstream_gene_variant PACA-AU 11 62600872 62600872 single base substitution C T intron_variant PACA-AU 11 62600872 62600872 single base substitution C T upstream_gene_variant PACA-AU 11 62602138 62602138 single base substitution G A downstream_gene_variant PACA-AU 11 62602138 62602138 single base substitution G A exon_variant PACA-AU 11 62602138 62602138 single base substitution G A intron_variant PACA-AU 11 62602138 62602138 single base substitution G A upstream_gene_variant PACA-AU 11 62604979 62604979 single base substitution A C downstream_gene_variant PACA-AU 11 62604979 62604979 single base substitution A C intron_variant PACA-AU 11 62604979 62604979 single base substitution A C upstream_gene_variant PACA-AU 11 62609100 62609100 single base substitution A G 5_prime_UTR_variant PACA-AU 11 62609100 62609100 single base substitution A G upstream_gene_variant PACA-AU 11 62609254 62609254 single base substitution G A 5_prime_UTR_variant PACA-AU 11 62609254 62609254 single base substitution G A upstream_gene_variant PACA-AU 11 62611284 62611284 single base substitution G A upstream_gene_variant PACA-AU 11 62611357 62611357 single base substitution G A upstream_gene_variant PACA-AU 11 62611469 62611469 single base substitution G A upstream_gene_variant PACA-AU 11 62611698 62611698 insertion of <=200bp - A upstream_gene_variant PACA-AU 11 62611904 62611904 insertion of <=200bp - T upstream_gene_variant PACA-AU 11 62612936 62612936 single base substitution C A upstream_gene_variant PACA-AU 11 62613240 62613240 single base substitution A G upstream_gene_variant PACA-AU 11 62613713 62613713 single base substitution C A upstream_gene_variant PACA-AU 11 62614009 62614009 single base substitution G T upstream_gene_variant PACA-CA 11 62598105 62598105 single base substitution C A downstream_gene_variant PACA-CA 11 62602946 62602949 deletion of <=200bp AGAA - 3_prime_UTR_variant PACA-CA 11 62602946 62602949 deletion of <=200bp AGAA - downstream_gene_variant PACA-CA 11 62602946 62602949 deletion of <=200bp AGAA - exon_variant PACA-CA 11 62602946 62602949 deletion of <=200bp AGAA - frameshift_variant FL134 PACA-CA 11 62602946 62602949 deletion of <=200bp AGAA - frameshift_variant FL191 PACA-CA 11 62602946 62602949 deletion of <=200bp AGAA - upstream_gene_variant PACA-CA 11 62606742 62606742 single base substitution G A downstream_gene_variant PACA-CA 11 62606742 62606742 single base substitution G A intron_variant PACA-CA 11 62606742 62606742 single base substitution G A upstream_gene_variant PACA-CA 11 62607709 62607709 single base substitution T C 5_prime_UTR_variant PACA-CA 11 62607709 62607709 single base substitution T C intron_variant PACA-CA 11 62607709 62607709 single base substitution T C upstream_gene_variant PACA-CA 11 62609262 62609262 single base substitution C A 5_prime_UTR_variant PACA-CA 11 62609262 62609262 single base substitution C A upstream_gene_variant PACA-CA 11 62612634 62612634 insertion of <=200bp - T upstream_gene_variant PACA-CA 11 62612866 62612866 single base substitution C T upstream_gene_variant PACA-CA 11 62613278 62613278 single base substitution T A upstream_gene_variant PACA-CA 11 62614106 62614106 single base substitution G A upstream_gene_variant PACA-CA 11 62614213 62614213 single base substitution C T upstream_gene_variant PAEN-AU 11 62596215 62596215 insertion of <=200bp - AAAC downstream_gene_variant PAEN-AU 11 62609178 62609178 single base substitution A G 5_prime_UTR_variant PAEN-AU 11 62609178 62609178 single base substitution A G upstream_gene_variant PBCA-DE 11 62596900 62596900 insertion of <=200bp - AAATAAAT downstream_gene_variant PBCA-DE 11 62613179 62613179 single base substitution C T upstream_gene_variant PRAD-CA 11 62596238 62596238 single base substitution T C downstream_gene_variant PRAD-CA 11 62604987 62604987 single base substitution C A downstream_gene_variant PRAD-CA 11 62604987 62604987 single base substitution C A intron_variant PRAD-CA 11 62604987 62604987 single base substitution C A upstream_gene_variant PRAD-CA 11 62606623 62606623 single base substitution C A 3_prime_UTR_variant PRAD-CA 11 62606623 62606623 single base substitution C A downstream_gene_variant PRAD-CA 11 62606623 62606623 single base substitution C A exon_variant PRAD-CA 11 62606623 62606623 single base substitution C A missense_variant G29W 85G>T PRAD-CA 11 62606623 62606623 single base substitution C A missense_variant G86W 256G>T PRAD-CA 11 62606623 62606623 single base substitution C A upstream_gene_variant PRAD-CA 11 62609072 62609072 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant PRAD-CA 11 62609072 62609072 single base substitution G A upstream_gene_variant PRAD-UK 11 62598585 62598585 insertion of <=200bp - G downstream_gene_variant PRAD-UK 11 62600100 62600100 single base substitution C A downstream_gene_variant PRAD-UK 11 62600100 62600100 single base substitution C A intron_variant PRAD-UK 11 62609652 62609652 single base substitution G C upstream_gene_variant READ-US 11 62595063 62595063 single base substitution C T downstream_gene_variant RECA-EU 11 62599522 62599522 single base substitution C G downstream_gene_variant RECA-EU 11 62604148 62604148 single base substitution C A downstream_gene_variant RECA-EU 11 62604148 62604148 single base substitution C A exon_variant RECA-EU 11 62604148 62604148 single base substitution C A intron_variant RECA-EU 11 62604148 62604148 single base substitution C A upstream_gene_variant SKCA-BR 11 62596899 62596899 insertion of <=200bp - AAAAT downstream_gene_variant SKCA-BR 11 62598785 62598785 single base substitution T C downstream_gene_variant SKCA-BR 11 62599286 62599286 single base substitution G A downstream_gene_variant SKCA-BR 11 62599343 62599343 single base substitution T C downstream_gene_variant SKCA-BR 11 62599671 62599671 single base substitution A C downstream_gene_variant SKCA-BR 11 62599679 62599679 single base substitution C T downstream_gene_variant SKCA-BR 11 62599702 62599702 single base substitution A G downstream_gene_variant SKCA-BR 11 62605502 62605502 single base substitution G A downstream_gene_variant SKCA-BR 11 62605502 62605502 single base substitution G A intron_variant SKCA-BR 11 62605502 62605502 single base substitution G A upstream_gene_variant SKCA-BR 11 62607067 62607067 single base substitution C T 5_prime_UTR_variant SKCA-BR 11 62607067 62607067 single base substitution C T exon_variant SKCA-BR 11 62607067 62607067 single base substitution C T upstream_gene_variant SKCA-BR 11 62607074 62607074 single base substitution C T 5_prime_UTR_variant SKCA-BR 11 62607074 62607074 single base substitution C T upstream_gene_variant SKCA-BR 11 62608162 62608162 single base substitution G A intron_variant SKCA-BR 11 62608162 62608162 single base substitution G A upstream_gene_variant SKCA-BR 11 62608813 62608813 single base substitution A C intron_variant SKCA-BR 11 62608813 62608813 single base substitution A C upstream_gene_variant SKCA-BR 11 62608982 62608982 single base substitution T C intron_variant SKCA-BR 11 62608982 62608982 single base substitution T C upstream_gene_variant SKCA-BR 11 62609087 62609087 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant SKCA-BR 11 62609087 62609087 single base substitution G A upstream_gene_variant SKCA-BR 11 62609139 62609139 single base substitution G A 5_prime_UTR_variant SKCA-BR 11 62609139 62609139 single base substitution G A upstream_gene_variant SKCA-BR 11 62609269 62609269 single base substitution G A 5_prime_UTR_variant SKCA-BR 11 62609269 62609269 single base substitution G A upstream_gene_variant SKCA-BR 11 62609322 62609322 single base substitution C T upstream_gene_variant SKCA-BR 11 62609507 62609507 single base substitution A C upstream_gene_variant SKCA-BR 11 62611319 62611319 single base substitution G A upstream_gene_variant SKCM-US 11 62598585 62598585 deletion of <=200bp G - downstream_gene_variant SKCM-US 11 62601757 62601757 single base substitution G A 3_prime_UTR_variant SKCM-US 11 62601757 62601757 single base substitution G A downstream_gene_variant SKCM-US 11 62601757 62601757 single base substitution G A exon_variant SKCM-US 11 62601757 62601757 single base substitution G A missense_variant L199F 595C>T SKCM-US 11 62601757 62601757 single base substitution G A missense_variant L256F 766C>T SKCM-US 11 62601757 62601757 single base substitution G A upstream_gene_variant SKCM-US 11 62602941 62602941 single base substitution C T 3_prime_UTR_variant SKCM-US 11 62602941 62602941 single base substitution C T downstream_gene_variant SKCM-US 11 62602941 62602941 single base substitution C T exon_variant SKCM-US 11 62602941 62602941 single base substitution C T missense_variant G137R 409G>A SKCM-US 11 62602941 62602941 single base substitution C T missense_variant G194R 580G>A SKCM-US 11 62602941 62602941 single base substitution C T upstream_gene_variant SKCM-US 11 62603256 62603256 single base substitution G A 3_prime_UTR_variant SKCM-US 11 62603256 62603256 single base substitution G A downstream_gene_variant SKCM-US 11 62603256 62603256 single base substitution G A exon_variant SKCM-US 11 62603256 62603256 single base substitution G A missense_variant P143S 427C>T SKCM-US 11 62603256 62603256 single base substitution G A missense_variant P86S 256C>T SKCM-US 11 62603256 62603256 single base substitution G A upstream_gene_variant SKCM-US 11 62606644 62606644 single base substitution C T 3_prime_UTR_variant SKCM-US 11 62606644 62606644 single base substitution C T downstream_gene_variant SKCM-US 11 62606644 62606644 single base substitution C T exon_variant SKCM-US 11 62606644 62606644 single base substitution C T missense_variant G22S 64G>A SKCM-US 11 62606644 62606644 single base substitution C T missense_variant G79S 235G>A SKCM-US 11 62606644 62606644 single base substitution C T upstream_gene_variant STAD-US 11 62594857 62594857 single base substitution C A downstream_gene_variant STAD-US 11 62600597 62600597 single base substitution G T downstream_gene_variant STAD-US 11 62600597 62600597 single base substitution G T exon_variant STAD-US 11 62600597 62600597 single base substitution G T missense_variant P272T 814C>A STAD-US 11 62600597 62600597 single base substitution G T missense_variant P310T 928C>A STAD-US 11 62600597 62600597 single base substitution G T missense_variant P329T 985C>A STAD-US 11 62600597 62600597 single base substitution G T upstream_gene_variant STAD-US 11 62601368 62601368 single base substitution G A 3_prime_UTR_variant STAD-US 11 62601368 62601368 single base substitution G A downstream_gene_variant STAD-US 11 62601368 62601368 single base substitution G A exon_variant STAD-US 11 62601368 62601368 single base substitution G A missense_variant R216C 646C>T STAD-US 11 62601368 62601368 single base substitution G A missense_variant R273C 817C>T STAD-US 11 62601368 62601368 single base substitution G A upstream_gene_variant UCEC-US 11 62595058 62595058 single base substitution G A downstream_gene_variant UCEC-US 11 62595063 62595063 single base substitution C T downstream_gene_variant UCEC-US 11 62598573 62598573 single base substitution A G downstream_gene_variant UCEC-US 11 62598650 62598650 single base substitution C A downstream_gene_variant UCEC-US 11 62600449 62600449 single base substitution T G downstream_gene_variant UCEC-US 11 62600449 62600449 single base substitution T G exon_variant UCEC-US 11 62600449 62600449 single base substitution T G missense_variant K30T 89A>C UCEC-US 11 62600449 62600449 single base substitution T G missense_variant K321T 962A>C UCEC-US 11 62600449 62600449 single base substitution T G missense_variant K359T 1076A>C UCEC-US 11 62600449 62600449 single base substitution T G missense_variant K378T 1133A>C UCEC-US 11 62601270 62601270 single base substitution C A downstream_gene_variant UCEC-US 11 62601270 62601270 single base substitution C A exon_variant UCEC-US 11 62601270 62601270 single base substitution C A missense_variant E248D 744G>T UCEC-US 11 62601270 62601270 single base substitution C A missense_variant E305D 915G>T UCEC-US 11 62601270 62601270 single base substitution C A upstream_gene_variant UCEC-US 11 62601968 62601968 single base substitution C T 3_prime_UTR_variant UCEC-US 11 62601968 62601968 single base substitution C T downstream_gene_variant UCEC-US 11 62601968 62601968 single base substitution C T exon_variant UCEC-US 11 62601968 62601968 single base substitution C T missense_variant R160H 479G>A UCEC-US 11 62601968 62601968 single base substitution C T missense_variant R217H 650G>A UCEC-US 11 62601968 62601968 single base substitution C T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand LOVO COSM2039844 c.296C>T p.T99I Substitution - Missense 11:62836034-62836034 - Gp5D COSM2039858 c.54G>T p.G18G Substitution - coding silent 11:62839517-62839517 - TCGA-AP-A059-01 COSM929840 c.650G>A p.R217H Substitution - Missense 11:62834496-62834496 - TCGA-AP-A059-01 COSM929838 c.915G>T p.E305D Substitution - Missense 11:62833798-62833798 - 9193_T COSM5040185 c.904C>T p.R302W Substitution - Missense 11:62833809-62833809 - I2L-P19Tb-Tumor-Biopsy COSM5360404 c.1132_1134delAAG p.K378delK Deletion - In frame 11:62832976-62832978 - CSCC-27-T COSM4567373 c.684_685CC>TT p.P229S Substitution - Missense 11:62834461-62834462 - CHC253T COSM251204 c.52G>C p.G18R Substitution - Missense 11:62839519-62839519 - ACINAR06 COSM1735074 c.1024G>A p.D342N Substitution - Missense 11:62833086-62833086 - TP_2064 COSM2039836 c.409C>T p.R137C Substitution - Missense 11:62835802-62835802 - TCGA-AX-A0J0-01 COSM929836 c.1133A>C p.K378T Substitution - Missense 11:62832977-62832977 - CSCC-31-T COSM4460146 c.1154C>T p.P385L Substitution - Missense 11:62832956-62832956 - ESCC_8 COSM5623420 c.64+2T>G p.? Unknown 11:62839505-62839505 - TCGA-AZ-6601-01 COSM1355474 c.712G>A p.G238R Substitution - Missense 11:62834434-62834434 - CHC253T COSM251204 c.52G>C p.G18R Substitution - Missense 11:62839519-62839519 - TCGA-EB-A44O-01 COSM3451108 c.580G>A p.G194R Substitution - Missense 11:62835469-62835469 - Gp2D COSM2039820 c.649C>T p.R217C Substitution - Missense 11:62834497-62834497 - T3498 COSM4741066 c.255C>T p.G85G Substitution - coding silent 11:62839152-62839152 - TCGA-AL-7173-01 COSM3986309 c.60G>C p.L20F Substitution - Missense 11:62839511-62839511 - BD183T COSM5508119 c.720-9C>T p.? Unknown 11:62834340-62834340 - LS180 COSM2039808 c.864C>T p.G288G Substitution - coding silent 11:62833849-62833849 - Gp5D COSM2039820 c.649C>T p.R217C Substitution - Missense 11:62834497-62834497 - TCGA-16-1045-01 COSM3397999 c.542G>A p.R181Q Substitution - Missense 11:62835507-62835507 - TCGA-AA-A00N-01 COSM278133 c.351G>T p.K117N Substitution - Missense 11:62835979-62835979 - RK308_C01 COSM3739194 c.9T>G p.A3A Substitution - coding silent 11:62839562-62839562 - TCGA-CK-4951-01 COSM5147569 c.878T>G p.L293W Substitution - Missense 11:62833835-62833835 - TCGA-D3-A3C7-06 COSM1270428 c.427C>T p.P143S Substitution - Missense 11:62835784-62835784 - Pat_54_A COSM5839087 c.11C>T p.A4V Substitution - Missense 11:62839560-62839560 - Gp2D COSM2039858 c.54G>T p.G18G Substitution - coding silent 11:62839517-62839517 - ACINAR15 COSM1735076 c.1014_1017delGCCC p.P339fs*1 Deletion - Frameshift 11:62833093-62833096 - TCGA-BR-4184-01 COSM4034912 c.817C>T p.R273C Substitution - Missense 11:62833896-62833896 - YUROG COSM5373114 c.359C>T p.S120F Substitution - Missense 11:62835971-62835971 - TCGA-AC-A23H-01 COSM3809885 c.664G>C p.E222Q Substitution - Missense 11:62834482-62834482 - TCGA-CK-4951-01 COSM5147567 c.966G>A p.R322R Substitution - coding silent 11:62833630-62833630 - GB18 COSM1744745 c.106G>A p.G36R Substitution - Missense 11:62839387-62839387 - TCGA-D3-A51J-06 COSM3451110 c.235G>A p.G79S Substitution - Missense 11:62839172-62839172 - TCGA-BR-6452-01 COSM4034910 c.985C>A p.P329T Substitution - Missense 11:62833125-62833125 - TCGA-BP-4167-01 COSM1135223 c.220G>A p.D74N Substitution - Missense 11:62839187-62839187 - ESO-864 COSM1270428 c.427C>T p.P143S Substitution - Missense 11:62835784-62835784 - TCGA-04-1350-01 COSM86508 c.661C>G p.L221V Substitution - Missense 11:62834485-62834485 - SC_9097 COSM5570155 c.166A>C p.T56P Substitution - Missense 11:62839327-62839327 - I2L-P19Tb-Tumor-Organoid COSM5360404 c.1132_1134delAAG p.K378delK Deletion - In frame 11:62832976-62832978 - TCGA-B4-5377-01 COSM467157 c.922-1G>T p.? Unknown 11:62833675-62833675 - TCGA-B6-A0WS-01 COSM429478 c.349A>T p.K117* Substitution - Nonsense 11:62835981-62835981 - CSCC-37-T COSM4450893 c.921+1G>T p.? Unknown 11:62833791-62833791 - TCGA-CK-6747-01 COSM5155767 c.156C>T p.T52T Substitution - coding silent 11:62839337-62839337 - TCGA-EE-A3AG-06 COSM3451106 c.766C>T p.L256F Substitution - Missense 11:62834285-62834285 - TCGA-23-1809-01 COSM1322287 c.21C>G p.R7R Substitution - coding silent 11:62839550-62839550 - TCGA-C5-A1M6-01 COSM4826603 c.839C>G p.S280* Substitution - Nonsense 11:62833874-62833874 - 49 COSM5734469 c.1142G>A p.G381E Substitution - Missense 11:62832968-62832968 - LUAD-B00523 COSM331720 c.465G>A p.L155L Substitution - coding silent 11:62835746-62835746 - TCGA-A2-A0T5-01 COSM3809887 c.447T>G p.G149G Substitution - coding silent 11:62835764-62835764 - EGC15 COSM5050972 c.1033A>G p.T345A Substitution - Missense 11:62833077-62833077 - PD6406a COSM5768912 c.535G>T p.D179Y Substitution - Missense 11:62835514-62835514 - sysucc-783T COSM5483623 c.354C>T p.D118D Substitution - coding silent 11:62835976-62835976 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.654620 11q12.3

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G 3-UTRSNV . c.1155+1T>C 11 62600426 BRCA A G 5-UTRSNV . c.1-2136T>C 11 62609178 BRCA A G 5-UTRSNV . c.1-2178T>C 11 62609220 BRCA A G 5-UTRSNV . c.1-2222T>C 11 62609264 BRCA C A SpliceAcceptorSNV . c.922-1G>T 11 62601147 RCCC C T 3-UTRSNV . c.1155+36G>A 11 62600391 CM C T 5-UTRSNV . c.1-32G>A 11 62607074 CM C T IntronicSNV . c.719+23G>A 11 62601876 CM C T Missense p.D74N c.220G>A 11 62606659 RCCC C T Missense p.E87K c.259G>A 11 62606620 CM C T Missense p.G75D c.224G>A 11 62606655 HNSC C T Missense p.R137H c.410G>A 11 62603273 STAD C T Missense p.R181Q c.542G>A 11 62602979 GBM G A Missense p.L256F c.766C>T 11 62601757 CM G A Missense p.P143S c.427C>T 11 62603256 CM G A Missense p.P143S c.427C>T 11 62603256 ESCA G A Missense p.P84L c.251C>T 11 62606628 LGG G A Synonymous p.L93L c.279C>T 11 62606600 LUAD G C Missense p.L160V c.478C>G 11 62603205 LUAD G C Missense p.L221V c.661C>G 11 62601957 OV T A Nonsense p.K117* c.349A>T 11 62603453 BRCA T C 5-UTRSNV . c.1-2217A>G 11 62609259 HC T G IntronicSNV . c.1-1759A>C 11 62608801 CLL