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 12 6761554 6761554 + Silent SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 g.chr12:6761554G>C c.531C>G c.(529-531)acC>acG p.T177T BLCA 12 6765959 6765959 + Missense_Mutation SNP C C G TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr12:6765959C>G c.43G>C c.(43-45)Gaa>Caa p.E15Q BRCA 12 6761496 6761496 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr12:6761496T>G c.589A>C c.(589-591)Acc>Ccc p.T197P BRCA 12 6762144 6762144 + Missense_Mutation SNP C C T TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 g.chr12:6762144C>T c.349G>A c.(349-351)Gag>Aag p.E117K CESC 12 6761909 6761909 + Missense_Mutation SNP G G T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 g.chr12:6761909G>T c.419C>A c.(418-420)gCt>gAt p.A140D COAD 12 6760539 6760539 + Missense_Mutation SNP A A G TCGA-D5-6536-01A-11D-1719-10 TCGA-D5-6536-10A-01D-1719-10 g.chr12:6760539A>G c.661T>C c.(661-663)Tgg>Cgg p.W221R COAD 12 6761478 6761478 + Nonsense_Mutation SNP G G A TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr12:6761478G>A c.607C>T c.(607-609)Cag>Tag p.Q203* COAD 12 6761865 6761865 + Missense_Mutation SNP G G T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr12:6761865G>T c.463C>A c.(463-465)Ccc>Acc p.P155T COAD 12 6761930 6761930 + Missense_Mutation SNP C C T TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr12:6761930C>T c.398G>A c.(397-399)cGg>cAg p.R133Q COAD 12 6762117 6762117 + Missense_Mutation SNP T T A TCGA-AA-A00K-01A-02W-A005-10 TCGA-AA-A00K-10A-01W-A005-10 g.chr12:6762117T>A c.376A>T c.(376-378)Agc>Tgc p.S126C COAD 12 6762185 6762185 + Missense_Mutation SNP T T C TCGA-AZ-6608-01A-11D-1835-10 TCGA-AZ-6608-11A-01D-1835-10 g.chr12:6762185T>C c.308A>G c.(307-309)gAc>gGc p.D103G COADREAD 12 6760539 6760539 + Missense_Mutation SNP A A G TCGA-D5-6536-01A-11D-1719-10 TCGA-D5-6536-10A-01D-1719-10 g.chr12:6760539A>G c.661T>C c.(661-663)Tgg>Cgg p.W221R COADREAD 12 6761478 6761478 + Nonsense_Mutation SNP G G A TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr12:6761478G>A c.607C>T c.(607-609)Cag>Tag p.Q203* COADREAD 12 6761865 6761865 + Missense_Mutation SNP G G T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr12:6761865G>T c.463C>A c.(463-465)Ccc>Acc p.P155T COADREAD 12 6761930 6761930 + Missense_Mutation SNP C C T TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr12:6761930C>T c.398G>A c.(397-399)cGg>cAg p.R133Q COADREAD 12 6762117 6762117 + Missense_Mutation SNP T T A TCGA-AA-A00K-01A-02W-A005-10 TCGA-AA-A00K-10A-01W-A005-10 g.chr12:6762117T>A c.376A>T c.(376-378)Agc>Tgc p.S126C COADREAD 12 6762185 6762185 + Missense_Mutation SNP T T C TCGA-AZ-6608-01A-11D-1835-10 TCGA-AZ-6608-11A-01D-1835-10 g.chr12:6762185T>C c.308A>G c.(307-309)gAc>gGc p.D103G DLBC 12 6760367 6760367 + Silent SNP C C T TCGA-G8-6909-01A-11D-2210-10 TCGA-G8-6909-14A-01D-2210-10 g.chr12:6760367C>T c.744G>A c.(742-744)aaG>aaA p.K248K ESCA 12 6762111 6762111 + Missense_Mutation SNP C C A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 g.chr12:6762111C>A c.382G>T c.(382-384)Ggc>Tgc p.G128C ESCA 12 6772257 6772257 + Missense_Mutation SNP C C T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 g.chr12:6772257C>T c.11G>A c.(10-12)gGg>gAg p.G4E GBMLGG 12 6761527 6761527 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:6761527C>T c.558G>A c.(556-558)gtG>gtA p.V186V KIPAN 12 6760401 6760401 + Splice_Site SNP C C T TCGA-HE-A5NH-01A-11D-A26P-10 TCGA-HE-A5NH-10A-01D-A26P-10 g.chr12:6760401C>T c.e8-1 KIPAN 12 6760546 6760546 + Frame_Shift_Del DEL G G - TCGA-4A-A93W-01A-11D-A36X-10 TCGA-4A-A93W-10A-01D-A370-10 g.chr12:6760546delG c.654delC c.(652-654)tccfs p.S218fs KIPAN 12 6761549 6761549 + Frame_Shift_Del DEL C C - TCGA-J7-6720-01A-11D-2136-08 TCGA-J7-6720-10A-01D-2136-08 g.chr12:6761549delC c.536delG c.(535-537)ggcfs p.G179fs KIRP 12 6760401 6760401 + Splice_Site SNP C C T TCGA-HE-A5NH-01A-11D-A26P-10 TCGA-HE-A5NH-10A-01D-A26P-10 g.chr12:6760401C>T c.e8-1 KIRP 12 6760546 6760546 + Frame_Shift_Del DEL G G - TCGA-4A-A93W-01A-11D-A36X-10 TCGA-4A-A93W-10A-01D-A370-10 g.chr12:6760546delG c.654delC c.(652-654)tccfs p.S218fs KIRP 12 6761549 6761549 + Frame_Shift_Del DEL C C - TCGA-J7-6720-01A-11D-2136-08 TCGA-J7-6720-10A-01D-2136-08 g.chr12:6761549delC c.536delG c.(535-537)ggcfs p.G179fs LGG 12 6761527 6761527 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:6761527C>T c.558G>A c.(556-558)gtG>gtA p.V186V LUAD 12 6760378 6760378 + Missense_Mutation SNP C C G TCGA-73-4668-01A-01D-1265-08 TCGA-73-4668-11A-01D-1265-08 g.chr12:6760378C>G c.733G>C c.(733-735)Gaa>Caa p.E245Q LUAD 12 6761453 6761453 + Missense_Mutation SNP C C A TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 g.chr12:6761453C>A c.632G>T c.(631-633)gGc>gTc p.G211V LUAD 12 6761907 6761907 + Missense_Mutation SNP C C A TCGA-17-Z045-01A-01W-0746-08 TCGA-17-Z045-11A-01W-0747-08 g.chr12:6761907C>A c.421G>T c.(421-423)Gct>Tct p.A141S LUAD 12 6772256 6772256 + Silent SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 g.chr12:6772256C>G c.12G>C c.(10-12)ggG>ggC p.G4G LUSC 12 6760378 6760378 + Missense_Mutation SNP C C G TCGA-66-2768-01A-01D-1522-08 TCGA-66-2768-11A-01D-1522-08 g.chr12:6760378C>G c.733G>C c.(733-735)Gaa>Caa p.E245Q LUSC 12 6761577 6761577 + Missense_Mutation SNP C C G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 g.chr12:6761577C>G c.508G>C c.(508-510)Gag>Cag p.E170Q OV 12 6762177 6762177 + Missense_Mutation SNP G G A TCGA-13-0891-01A-01W-0420-08 TCGA-13-0891-10A-01D-0399-08 g.chr12:6762177G>A c.316C>T c.(316-318)Cgt>Tgt p.R106C SARC 12 6760372 6760372 + Nonsense_Mutation SNP T T A TCGA-DX-A6BF-01A-11D-A307-09 TCGA-DX-A6BF-10A-01D-A307-09 g.chr12:6760372T>A c.739A>T c.(739-741)Aag>Tag p.K247* SKCM 12 6760488 6760488 + Splice_Site SNP A A G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr12:6760488A>G c.e7+1 SKCM 12 6761495 6761495 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr12:6761495G>A c.590C>T c.(589-591)aCc>aTc p.T197I SKCM 12 6761506 6761506 + Silent SNP G G A TCGA-EE-A29S-06A-11D-A197-08 TCGA-EE-A29S-10A-01D-A199-08 g.chr12:6761506G>A c.579C>T c.(577-579)ccC>ccT p.P193P SKCM 12 6761532 6761532 + Missense_Mutation SNP C C T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 g.chr12:6761532C>T c.553G>A c.(553-555)Gat>Aat p.D185N SKCM 12 6765953 6765953 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 g.chr12:6765953G>A c.49C>T c.(49-51)Ctt>Ttt p.L17F

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 12 6756060 6756060 single base substitution C A downstream_gene_variant BLCA-US 12 6761554 6761554 single base substitution G C 3_prime_UTR_variant BLCA-US 12 6761554 6761554 single base substitution G C downstream_gene_variant BLCA-US 12 6761554 6761554 single base substitution G C exon_variant BLCA-US 12 6761554 6761554 single base substitution G C intron_variant BLCA-US 12 6761554 6761554 single base substitution G C synonymous_variant T153T 459C>G BLCA-US 12 6761554 6761554 single base substitution G C synonymous_variant T173T 519C>G BLCA-US 12 6761554 6761554 single base substitution G C synonymous_variant T174T 522C>G BLCA-US 12 6761554 6761554 single base substitution G C synonymous_variant T176T 528C>G BLCA-US 12 6761554 6761554 single base substitution G C synonymous_variant T177T 531C>G BLCA-US 12 6761554 6761554 single base substitution G C synonymous_variant T5T 15C>G BLCA-US 12 6777233 6777233 single base substitution G T upstream_gene_variant BOCA-UK 12 6760492 6760492 single base substitution T A downstream_gene_variant BOCA-UK 12 6760492 6760492 single base substitution T A exon_variant BOCA-UK 12 6760492 6760492 single base substitution T A missense_variant K212N 636A>T BOCA-UK 12 6760492 6760492 single base substitution T A missense_variant K232N 696A>T BOCA-UK 12 6760492 6760492 single base substitution T A missense_variant K233N 699A>T BOCA-UK 12 6760492 6760492 single base substitution T A missense_variant K235N 705A>T BOCA-UK 12 6760492 6760492 single base substitution T A missense_variant K236N 708A>T BOCA-UK 12 6760492 6760492 single base substitution T A splice_region_variant BRCA-EU 12 6754772 6754772 single base substitution T C downstream_gene_variant BRCA-EU 12 6755638 6755638 single base substitution C T downstream_gene_variant BRCA-EU 12 6757416 6757416 single base substitution C T downstream_gene_variant BRCA-EU 12 6757602 6757602 single base substitution T C downstream_gene_variant BRCA-EU 12 6759616 6759616 single base substitution C T 3_prime_UTR_variant BRCA-EU 12 6759616 6759616 single base substitution C T downstream_gene_variant BRCA-EU 12 6759730 6759730 single base substitution A T 3_prime_UTR_variant BRCA-EU 12 6759730 6759730 single base substitution A T downstream_gene_variant BRCA-EU 12 6759906 6759906 single base substitution G T 3_prime_UTR_variant BRCA-EU 12 6759906 6759906 single base substitution G T downstream_gene_variant BRCA-EU 12 6761773 6761773 single base substitution G A downstream_gene_variant BRCA-EU 12 6761773 6761773 single base substitution G A exon_variant BRCA-EU 12 6761773 6761773 single base substitution G A intron_variant BRCA-EU 12 6762061 6762061 single base substitution C A downstream_gene_variant BRCA-EU 12 6762061 6762061 single base substitution C A exon_variant BRCA-EU 12 6762061 6762061 single base substitution C A intron_variant BRCA-EU 12 6762551 6762551 single base substitution C A 3_prime_UTR_variant BRCA-EU 12 6762551 6762551 single base substitution C A downstream_gene_variant BRCA-EU 12 6762551 6762551 single base substitution C A exon_variant BRCA-EU 12 6762551 6762551 single base substitution C A intron_variant BRCA-EU 12 6762551 6762551 single base substitution C A stop_gained E17* 49G>T BRCA-EU 12 6762551 6762551 single base substitution C A stop_gained E41* 121G>T BRCA-EU 12 6763091 6763091 single base substitution C G downstream_gene_variant BRCA-EU 12 6763091 6763091 single base substitution C G intron_variant BRCA-EU 12 6763091 6763091 single base substitution C G upstream_gene_variant BRCA-EU 12 6763095 6763095 single base substitution C T downstream_gene_variant BRCA-EU 12 6763095 6763095 single base substitution C T intron_variant BRCA-EU 12 6763095 6763095 single base substitution C T upstream_gene_variant BRCA-EU 12 6764544 6764544 single base substitution C T downstream_gene_variant BRCA-EU 12 6764544 6764544 single base substitution C T intron_variant BRCA-EU 12 6764544 6764544 single base substitution C T upstream_gene_variant BRCA-EU 12 6764740 6764740 single base substitution T G downstream_gene_variant BRCA-EU 12 6764740 6764740 single base substitution T G intron_variant BRCA-EU 12 6764740 6764740 single base substitution T G upstream_gene_variant BRCA-EU 12 6764809 6764809 single base substitution G A 3_prime_UTR_variant BRCA-EU 12 6764809 6764809 single base substitution G A downstream_gene_variant BRCA-EU 12 6764809 6764809 single base substitution G A intron_variant BRCA-EU 12 6764809 6764809 single base substitution G A upstream_gene_variant BRCA-EU 12 6765031 6765031 single base substitution G A 3_prime_UTR_variant BRCA-EU 12 6765031 6765031 single base substitution G A downstream_gene_variant BRCA-EU 12 6765031 6765031 single base substitution G A intron_variant BRCA-EU 12 6765031 6765031 single base substitution G A upstream_gene_variant BRCA-EU 12 6765071 6765071 single base substitution C G downstream_gene_variant BRCA-EU 12 6765071 6765071 single base substitution C G exon_variant BRCA-EU 12 6765071 6765071 single base substitution C G intron_variant BRCA-EU 12 6765071 6765071 single base substitution C G upstream_gene_variant BRCA-EU 12 6765681 6765681 single base substitution C G exon_variant BRCA-EU 12 6765681 6765681 single base substitution C G intron_variant BRCA-EU 12 6765681 6765681 single base substitution C G upstream_gene_variant BRCA-EU 12 6766306 6766306 single base substitution C G intron_variant BRCA-EU 12 6766306 6766306 single base substitution C G upstream_gene_variant BRCA-EU 12 6767161 6767161 single base substitution T G intron_variant BRCA-EU 12 6767161 6767161 single base substitution T G upstream_gene_variant BRCA-EU 12 6768631 6768631 single base substitution C G intron_variant BRCA-EU 12 6768631 6768631 single base substitution C G upstream_gene_variant BRCA-EU 12 6770770 6770770 single base substitution A T intron_variant BRCA-EU 12 6770770 6770770 single base substitution A T upstream_gene_variant BRCA-EU 12 6771000 6771000 single base substitution G A intron_variant BRCA-EU 12 6771705 6771705 single base substitution T A intron_variant BRCA-EU 12 6772377 6772377 single base substitution C G upstream_gene_variant BRCA-EU 12 6772428 6772428 single base substitution T C upstream_gene_variant BRCA-EU 12 6772684 6772684 single base substitution C G upstream_gene_variant BRCA-EU 12 6775025 6775025 single base substitution C T upstream_gene_variant BRCA-EU 12 6776506 6776506 single base substitution C T upstream_gene_variant BRCA-EU 12 6776900 6776900 single base substitution C T upstream_gene_variant BRCA-FR 12 6756459 6756459 single base substitution G C downstream_gene_variant BRCA-FR 12 6766917 6766917 single base substitution G A intron_variant BRCA-FR 12 6766917 6766917 single base substitution G A upstream_gene_variant BRCA-FR 12 6768631 6768631 single base substitution C G intron_variant BRCA-FR 12 6768631 6768631 single base substitution C G upstream_gene_variant BRCA-FR 12 6769773 6769773 single base substitution C T intron_variant BRCA-FR 12 6769773 6769773 single base substitution C T upstream_gene_variant BRCA-US 12 6756134 6756134 single base substitution G C downstream_gene_variant BRCA-US 12 6756501 6756501 single base substitution G T downstream_gene_variant BRCA-US 12 6761496 6761496 single base substitution T G 3_prime_UTR_variant BRCA-US 12 6761496 6761496 single base substitution T G downstream_gene_variant BRCA-US 12 6761496 6761496 single base substitution T G exon_variant BRCA-US 12 6761496 6761496 single base substitution T G intron_variant BRCA-US 12 6761496 6761496 single base substitution T G missense_variant T173P 517A>C BRCA-US 12 6761496 6761496 single base substitution T G missense_variant T193P 577A>C BRCA-US 12 6761496 6761496 single base substitution T G missense_variant T194P 580A>C BRCA-US 12 6761496 6761496 single base substitution T G missense_variant T196P 586A>C BRCA-US 12 6761496 6761496 single base substitution T G missense_variant T197P 589A>C BRCA-US 12 6761496 6761496 single base substitution T G missense_variant T25P 73A>C BRCA-US 12 6762144 6762144 single base substitution C T 3_prime_UTR_variant BRCA-US 12 6762144 6762144 single base substitution C T 5_prime_UTR_variant BRCA-US 12 6762144 6762144 single base substitution C T downstream_gene_variant BRCA-US 12 6762144 6762144 single base substitution C T exon_variant BRCA-US 12 6762144 6762144 single base substitution C T missense_variant E117K 349G>A BRCA-US 12 6762144 6762144 single base substitution C T missense_variant E93K 277G>A BTCA-JP 12 6754643 6754643 single base substitution C A downstream_gene_variant BTCA-JP 12 6755703 6755703 single base substitution C T downstream_gene_variant BTCA-JP 12 6762089 6762089 single base substitution G A downstream_gene_variant BTCA-JP 12 6762089 6762089 single base substitution G A exon_variant BTCA-JP 12 6762089 6762089 single base substitution G A intron_variant BTCA-JP 12 6766058 6766058 single base substitution G A intron_variant BTCA-JP 12 6766058 6766058 single base substitution G A upstream_gene_variant BTCA-JP 12 6777019 6777019 deletion of <=200bp C - upstream_gene_variant CESC-US 12 6761909 6761909 single base substitution G T 3_prime_UTR_variant CESC-US 12 6761909 6761909 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant CESC-US 12 6761909 6761909 single base substitution G T downstream_gene_variant CESC-US 12 6761909 6761909 single base substitution G T exon_variant CESC-US 12 6761909 6761909 single base substitution G T missense_variant A116D 347C>A CESC-US 12 6761909 6761909 single base substitution G T missense_variant A136D 407C>A CESC-US 12 6761909 6761909 single base substitution G T missense_variant A137D 410C>A CESC-US 12 6761909 6761909 single base substitution G T missense_variant A139D 416C>A CESC-US 12 6761909 6761909 single base substitution G T missense_variant A140D 419C>A CESC-US 12 6776880 6776880 single base substitution C G upstream_gene_variant CESC-US 12 6776900 6776900 single base substitution C A upstream_gene_variant CLLE-ES 12 6770277 6770277 single base substitution T G intron_variant CLLE-ES 12 6770277 6770277 single base substitution T G upstream_gene_variant CLLE-ES 12 6771136 6771136 single base substitution T C intron_variant COAD-US 12 6756014 6756014 single base substitution T C downstream_gene_variant COAD-US 12 6761478 6761478 single base substitution G A 3_prime_UTR_variant COAD-US 12 6761478 6761478 single base substitution G A downstream_gene_variant COAD-US 12 6761478 6761478 single base substitution G A exon_variant COAD-US 12 6761478 6761478 single base substitution G A intron_variant COAD-US 12 6761478 6761478 single base substitution G A splice_region_variant COAD-US 12 6761478 6761478 single base substitution G A stop_gained Q179* 535C>T COAD-US 12 6761478 6761478 single base substitution G A stop_gained Q199* 595C>T COAD-US 12 6761478 6761478 single base substitution G A stop_gained Q200* 598C>T COAD-US 12 6761478 6761478 single base substitution G A stop_gained Q202* 604C>T COAD-US 12 6761478 6761478 single base substitution G A stop_gained Q203* 607C>T COAD-US 12 6761478 6761478 single base substitution G A stop_gained Q31* 91C>T COAD-US 12 6761878 6761878 single base substitution C T 3_prime_UTR_variant COAD-US 12 6761878 6761878 single base substitution C T 5_prime_UTR_variant COAD-US 12 6761878 6761878 single base substitution C T downstream_gene_variant COAD-US 12 6761878 6761878 single base substitution C T exon_variant COAD-US 12 6761878 6761878 single base substitution C T synonymous_variant S126S 378G>A COAD-US 12 6761878 6761878 single base substitution C T synonymous_variant S146S 438G>A COAD-US 12 6761878 6761878 single base substitution C T synonymous_variant S147S 441G>A COAD-US 12 6761878 6761878 single base substitution C T synonymous_variant S149S 447G>A COAD-US 12 6761878 6761878 single base substitution C T synonymous_variant S150S 450G>A COAD-US 12 6761930 6761930 single base substitution C T 3_prime_UTR_variant COAD-US 12 6761930 6761930 single base substitution C T 5_prime_UTR_variant COAD-US 12 6761930 6761930 single base substitution C T downstream_gene_variant COAD-US 12 6761930 6761930 single base substitution C T exon_variant COAD-US 12 6761930 6761930 single base substitution C T missense_variant R109Q 326G>A COAD-US 12 6761930 6761930 single base substitution C T missense_variant R129Q 386G>A COAD-US 12 6761930 6761930 single base substitution C T missense_variant R130Q 389G>A COAD-US 12 6761930 6761930 single base substitution C T missense_variant R132Q 395G>A COAD-US 12 6761930 6761930 single base substitution C T missense_variant R133Q 398G>A COAD-US 12 6777070 6777072 deletion of <=200bp TGC - upstream_gene_variant COAD-US 12 6777070 6777075 deletion of <=200bp TGCTGC - upstream_gene_variant COAD-US 12 6777072 6777072 single base substitution C T upstream_gene_variant COAD-US 12 6777075 6777075 single base substitution C T upstream_gene_variant COAD-US 12 6777202 6777202 single base substitution G A upstream_gene_variant COCA-CN 12 6756240 6756240 single base substitution A G downstream_gene_variant COCA-CN 12 6760308 6760308 single base substitution T C 3_prime_UTR_variant COCA-CN 12 6760308 6760308 single base substitution T C downstream_gene_variant COCA-CN 12 6760308 6760308 single base substitution T C exon_variant COCA-CN 12 6766041 6766041 single base substitution C T intron_variant COCA-CN 12 6766041 6766041 single base substitution C T upstream_gene_variant COCA-CN 12 6777075 6777075 single base substitution C T upstream_gene_variant ESAD-UK 12 6754972 6754972 single base substitution G A downstream_gene_variant ESAD-UK 12 6755435 6755435 single base substitution G A downstream_gene_variant ESAD-UK 12 6755929 6755929 single base substitution G C downstream_gene_variant ESAD-UK 12 6757819 6757819 single base substitution G A downstream_gene_variant ESAD-UK 12 6757850 6757850 single base substitution C A downstream_gene_variant ESAD-UK 12 6760125 6760125 single base substitution C T 3_prime_UTR_variant ESAD-UK 12 6760125 6760125 single base substitution C T downstream_gene_variant ESAD-UK 12 6760125 6760125 single base substitution C T exon_variant ESAD-UK 12 6761368 6761368 single base substitution T C downstream_gene_variant ESAD-UK 12 6761368 6761368 single base substitution T C intron_variant ESAD-UK 12 6761383 6761383 single base substitution C T downstream_gene_variant ESAD-UK 12 6761383 6761383 single base substitution C T intron_variant ESAD-UK 12 6763896 6763896 single base substitution G A downstream_gene_variant ESAD-UK 12 6763896 6763896 single base substitution G A intron_variant ESAD-UK 12 6763896 6763896 single base substitution G A upstream_gene_variant ESAD-UK 12 6767694 6767694 single base substitution A G intron_variant ESAD-UK 12 6767694 6767694 single base substitution A G upstream_gene_variant ESAD-UK 12 6767756 6767756 single base substitution G T intron_variant ESAD-UK 12 6767756 6767756 single base substitution G T upstream_gene_variant ESAD-UK 12 6769429 6769429 single base substitution C A intron_variant ESAD-UK 12 6769429 6769429 single base substitution C A upstream_gene_variant ESAD-UK 12 6776207 6776207 single base substitution C T upstream_gene_variant ESAD-UK 12 6776609 6776609 single base substitution C T upstream_gene_variant ESCA-CN 12 6776934 6776934 single base substitution G C upstream_gene_variant KIRC-US 12 6762198 6762198 single base substitution G A 3_prime_UTR_variant KIRC-US 12 6762198 6762198 single base substitution G A 5_prime_UTR_variant KIRC-US 12 6762198 6762198 single base substitution G A downstream_gene_variant KIRC-US 12 6762198 6762198 single base substitution G A exon_variant KIRC-US 12 6762198 6762198 single base substitution G A missense_variant R75W 223C>T KIRC-US 12 6762198 6762198 single base substitution G A missense_variant R99W 295C>T KIRP-US 12 6761549 6761549 deletion of <=200bp C - 3_prime_UTR_variant KIRP-US 12 6761549 6761549 deletion of <=200bp C - downstream_gene_variant KIRP-US 12 6761549 6761549 deletion of <=200bp C - exon_variant KIRP-US 12 6761549 6761549 deletion of <=200bp C - frameshift_variant G155 KIRP-US 12 6761549 6761549 deletion of <=200bp C - frameshift_variant G175 KIRP-US 12 6761549 6761549 deletion of <=200bp C - frameshift_variant G176 KIRP-US 12 6761549 6761549 deletion of <=200bp C - frameshift_variant G178 KIRP-US 12 6761549 6761549 deletion of <=200bp C - frameshift_variant G179 KIRP-US 12 6761549 6761549 deletion of <=200bp C - frameshift_variant G7 KIRP-US 12 6761549 6761549 deletion of <=200bp C - intron_variant LAML-KR 12 6770463 6770463 single base substitution C T intron_variant LAML-KR 12 6770463 6770463 single base substitution C T upstream_gene_variant LICA-CN 12 6761831 6761831 single base substitution C A 3_prime_UTR_variant LICA-CN 12 6761831 6761831 single base substitution C A 5_prime_UTR_variant LICA-CN 12 6761831 6761831 single base substitution C A downstream_gene_variant LICA-CN 12 6761831 6761831 single base substitution C A exon_variant LICA-CN 12 6761831 6761831 single base substitution C A missense_variant R142L 425G>T LICA-CN 12 6761831 6761831 single base substitution C A missense_variant R162L 485G>T LICA-CN 12 6761831 6761831 single base substitution C A missense_variant R163L 488G>T LICA-CN 12 6761831 6761831 single base substitution C A missense_variant R165L 494G>T LICA-CN 12 6761831 6761831 single base substitution C A missense_variant R166L 497G>T LICA-CN 12 6777087 6777087 single base substitution C T upstream_gene_variant LICA-FR 12 6754496 6754496 single base substitution A C downstream_gene_variant LICA-FR 12 6756424 6756424 single base substitution C T downstream_gene_variant LICA-FR 12 6758523 6758523 single base substitution A G downstream_gene_variant LICA-FR 12 6764321 6764321 single base substitution T G downstream_gene_variant LICA-FR 12 6764321 6764321 single base substitution T G intron_variant LICA-FR 12 6764321 6764321 single base substitution T G upstream_gene_variant LICA-FR 12 6768560 6768560 single base substitution A C intron_variant LICA-FR 12 6768560 6768560 single base substitution A C upstream_gene_variant LICA-FR 12 6775801 6775801 deletion of <=200bp A - upstream_gene_variant LINC-JP 12 6754846 6754846 single base substitution A T downstream_gene_variant LINC-JP 12 6770922 6770922 single base substitution C T intron_variant LINC-JP 12 6770922 6770922 single base substitution C T upstream_gene_variant LINC-JP 12 6772283 6772283 single base substitution A T 5_prime_UTR_variant LINC-JP 12 6772283 6772283 single base substitution A T exon_variant LINC-JP 12 6772283 6772283 single base substitution A T upstream_gene_variant LIRI-JP 12 6757250 6757250 single base substitution T C downstream_gene_variant LIRI-JP 12 6759879 6759879 single base substitution T G 3_prime_UTR_variant LIRI-JP 12 6759879 6759879 single base substitution T G downstream_gene_variant LIRI-JP 12 6761199 6761199 single base substitution T C downstream_gene_variant LIRI-JP 12 6761199 6761199 single base substitution T C intron_variant LIRI-JP 12 6761789 6761789 single base substitution G A downstream_gene_variant LIRI-JP 12 6761789 6761789 single base substitution G A exon_variant LIRI-JP 12 6761789 6761789 single base substitution G A intron_variant LIRI-JP 12 6764738 6764738 single base substitution A G downstream_gene_variant LIRI-JP 12 6764738 6764738 single base substitution A G intron_variant LIRI-JP 12 6764738 6764738 single base substitution A G upstream_gene_variant LIRI-JP 12 6768001 6768001 single base substitution A G intron_variant LIRI-JP 12 6768001 6768001 single base substitution A G upstream_gene_variant LIRI-JP 12 6769287 6769287 single base substitution A T intron_variant LIRI-JP 12 6769287 6769287 single base substitution A T upstream_gene_variant LIRI-JP 12 6770174 6770174 single base substitution G T intron_variant LIRI-JP 12 6770174 6770174 single base substitution G T upstream_gene_variant LIRI-JP 12 6773706 6773706 single base substitution T C upstream_gene_variant LIRI-JP 12 6775471 6775471 single base substitution T C upstream_gene_variant LUSC-KR 12 6754598 6754598 single base substitution C A downstream_gene_variant LUSC-KR 12 6755224 6755224 single base substitution C T downstream_gene_variant LUSC-KR 12 6756683 6756683 single base substitution T C downstream_gene_variant LUSC-KR 12 6763513 6763513 single base substitution G T downstream_gene_variant LUSC-KR 12 6763513 6763513 single base substitution G T intron_variant LUSC-KR 12 6763513 6763513 single base substitution G T upstream_gene_variant LUSC-KR 12 6771418 6771418 single base substitution G T intron_variant LUSC-US 12 6756072 6756072 single base substitution C T downstream_gene_variant LUSC-US 12 6760378 6760378 single base substitution C G 3_prime_UTR_variant LUSC-US 12 6760378 6760378 single base substitution C G downstream_gene_variant LUSC-US 12 6760378 6760378 single base substitution C G exon_variant LUSC-US 12 6760378 6760378 single base substitution C G missense_variant E221Q 661G>C LUSC-US 12 6760378 6760378 single base substitution C G missense_variant E241Q 721G>C LUSC-US 12 6760378 6760378 single base substitution C G missense_variant E242Q 724G>C LUSC-US 12 6760378 6760378 single base substitution C G missense_variant E244Q 730G>C LUSC-US 12 6760378 6760378 single base substitution C G missense_variant E245Q 733G>C LUSC-US 12 6761577 6761577 single base substitution C G 3_prime_UTR_variant LUSC-US 12 6761577 6761577 single base substitution C G 5_prime_UTR_variant LUSC-US 12 6761577 6761577 single base substitution C G downstream_gene_variant LUSC-US 12 6761577 6761577 single base substitution C G exon_variant LUSC-US 12 6761577 6761577 single base substitution C G intron_variant LUSC-US 12 6761577 6761577 single base substitution C G missense_variant E146Q 436G>C LUSC-US 12 6761577 6761577 single base substitution C G missense_variant E166Q 496G>C LUSC-US 12 6761577 6761577 single base substitution C G missense_variant E167Q 499G>C LUSC-US 12 6761577 6761577 single base substitution C G missense_variant E169Q 505G>C LUSC-US 12 6761577 6761577 single base substitution C G missense_variant E170Q 508G>C LUSC-US 12 6776898 6776898 single base substitution C T upstream_gene_variant MALY-DE 12 6754451 6754451 single base substitution T A downstream_gene_variant MALY-DE 12 6754728 6754728 single base substitution C A downstream_gene_variant MALY-DE 12 6755116 6755116 single base substitution G A downstream_gene_variant MALY-DE 12 6758641 6758641 single base substitution T C downstream_gene_variant MELA-AU 12 6754621 6754621 single base substitution G A downstream_gene_variant MELA-AU 12 6754683 6754683 single base substitution C T downstream_gene_variant MELA-AU 12 6755124 6755124 single base substitution C T downstream_gene_variant MELA-AU 12 6755171 6755171 single base substitution G A downstream_gene_variant MELA-AU 12 6755931 6755931 single base substitution C T downstream_gene_variant MELA-AU 12 6756773 6756773 single base substitution G A downstream_gene_variant MELA-AU 12 6758171 6758171 single base substitution G A downstream_gene_variant MELA-AU 12 6758195 6758195 single base substitution G A downstream_gene_variant MELA-AU 12 6758224 6758224 single base substitution G A downstream_gene_variant MELA-AU 12 6758613 6758613 single base substitution C T downstream_gene_variant MELA-AU 12 6758772 6758772 single base substitution G A downstream_gene_variant MELA-AU 12 6758815 6758815 single base substitution T A downstream_gene_variant MELA-AU 12 6758994 6758994 single base substitution C T downstream_gene_variant MELA-AU 12 6759644 6759644 single base substitution T A 3_prime_UTR_variant MELA-AU 12 6759644 6759644 single base substitution T A downstream_gene_variant MELA-AU 12 6759841 6759841 single base substitution G A 3_prime_UTR_variant MELA-AU 12 6759841 6759841 single base substitution G A downstream_gene_variant MELA-AU 12 6760058 6760058 single base substitution G A 3_prime_UTR_variant MELA-AU 12 6760058 6760058 single base substitution G A downstream_gene_variant MELA-AU 12 6760058 6760058 single base substitution G A exon_variant MELA-AU 12 6760273 6760273 single base substitution A G 3_prime_UTR_variant MELA-AU 12 6760273 6760273 single base substitution A G downstream_gene_variant MELA-AU 12 6760273 6760273 single base substitution A G exon_variant MELA-AU 12 6760432 6760432 single base substitution G A downstream_gene_variant MELA-AU 12 6760432 6760432 single base substitution G A intron_variant MELA-AU 12 6760628 6760628 single base substitution G A downstream_gene_variant MELA-AU 12 6760628 6760628 single base substitution G A intron_variant MELA-AU 12 6761649 6761649 single base substitution G A downstream_gene_variant MELA-AU 12 6761649 6761649 single base substitution G A exon_variant MELA-AU 12 6761649 6761649 single base substitution G A intron_variant MELA-AU 12 6761887 6761887 single base substitution C T 3_prime_UTR_variant MELA-AU 12 6761887 6761887 single base substitution C T 5_prime_UTR_variant MELA-AU 12 6761887 6761887 single base substitution C T downstream_gene_variant MELA-AU 12 6761887 6761887 single base substitution C T exon_variant MELA-AU 12 6761887 6761887 single base substitution C T synonymous_variant G123G 369G>A MELA-AU 12 6761887 6761887 single base substitution C T synonymous_variant G143G 429G>A MELA-AU 12 6761887 6761887 single base substitution C T synonymous_variant G144G 432G>A MELA-AU 12 6761887 6761887 single base substitution C T synonymous_variant G146G 438G>A MELA-AU 12 6761887 6761887 single base substitution C T synonymous_variant G147G 441G>A MELA-AU 12 6762841 6762841 single base substitution G A downstream_gene_variant MELA-AU 12 6762841 6762841 single base substitution G A intron_variant MELA-AU 12 6762841 6762841 single base substitution G A upstream_gene_variant MELA-AU 12 6763641 6763641 single base substitution G A downstream_gene_variant MELA-AU 12 6763641 6763641 single base substitution G A intron_variant MELA-AU 12 6763641 6763641 single base substitution G A upstream_gene_variant MELA-AU 12 6763850 6763850 single base substitution A T downstream_gene_variant MELA-AU 12 6763850 6763850 single base substitution A T intron_variant MELA-AU 12 6763850 6763850 single base substitution A T upstream_gene_variant MELA-AU 12 6765419 6765419 single base substitution A G downstream_gene_variant MELA-AU 12 6765419 6765419 single base substitution A G intron_variant MELA-AU 12 6765419 6765419 single base substitution A G upstream_gene_variant MELA-AU 12 6766043 6766043 single base substitution G A intron_variant MELA-AU 12 6766043 6766043 single base substitution G A upstream_gene_variant MELA-AU 12 6766082 6766082 single base substitution G A intron_variant MELA-AU 12 6766082 6766082 single base substitution G A upstream_gene_variant MELA-AU 12 6766166 6766166 single base substitution G A intron_variant MELA-AU 12 6766166 6766166 single base substitution G A upstream_gene_variant MELA-AU 12 6766288 6766288 single base substitution C T intron_variant MELA-AU 12 6766288 6766288 single base substitution C T upstream_gene_variant MELA-AU 12 6766375 6766375 single base substitution G A intron_variant MELA-AU 12 6766375 6766375 single base substitution G A upstream_gene_variant MELA-AU 12 6767396 6767396 single base substitution G A intron_variant MELA-AU 12 6767396 6767396 single base substitution G A upstream_gene_variant MELA-AU 12 6768666 6768666 single base substitution C T intron_variant MELA-AU 12 6768666 6768666 single base substitution C T upstream_gene_variant MELA-AU 12 6769071 6769071 single base substitution G A intron_variant MELA-AU 12 6769071 6769071 single base substitution G A upstream_gene_variant MELA-AU 12 6769555 6769555 single base substitution A C intron_variant MELA-AU 12 6769555 6769555 single base substitution A C upstream_gene_variant MELA-AU 12 6769793 6769793 single base substitution G A intron_variant MELA-AU 12 6769793 6769793 single base substitution G A upstream_gene_variant MELA-AU 12 6769902 6769902 single base substitution C T intron_variant MELA-AU 12 6769902 6769902 single base substitution C T upstream_gene_variant MELA-AU 12 6770915 6770915 single base substitution G A intron_variant MELA-AU 12 6770915 6770915 single base substitution G A upstream_gene_variant MELA-AU 12 6771021 6771021 single base substitution C T intron_variant MELA-AU 12 6772133 6772133 single base substitution G A intron_variant MELA-AU 12 6772291 6772291 single base substitution C T 5_prime_UTR_variant MELA-AU 12 6772291 6772291 single base substitution C T upstream_gene_variant MELA-AU 12 6772352 6772352 single base substitution C T upstream_gene_variant MELA-AU 12 6772356 6772356 single base substitution C T upstream_gene_variant MELA-AU 12 6772357 6772357 single base substitution C T upstream_gene_variant MELA-AU 12 6772369 6772369 single base substitution G A upstream_gene_variant MELA-AU 12 6772370 6772370 single base substitution A T upstream_gene_variant MELA-AU 12 6772371 6772371 single base substitution G A upstream_gene_variant MELA-AU 12 6772377 6772377 single base substitution C T upstream_gene_variant MELA-AU 12 6772383 6772383 single base substitution T C upstream_gene_variant MELA-AU 12 6772389 6772389 single base substitution G A upstream_gene_variant MELA-AU 12 6772390 6772390 single base substitution G A upstream_gene_variant MELA-AU 12 6772392 6772392 single base substitution G A upstream_gene_variant MELA-AU 12 6772398 6772398 single base substitution C T upstream_gene_variant MELA-AU 12 6772409 6772409 single base substitution G A upstream_gene_variant MELA-AU 12 6772410 6772410 single base substitution G A upstream_gene_variant MELA-AU 12 6772412 6772412 single base substitution G A upstream_gene_variant MELA-AU 12 6772418 6772418 single base substitution C T upstream_gene_variant MELA-AU 12 6772431 6772431 deletion of <=200bp A - upstream_gene_variant MELA-AU 12 6772481 6772481 single base substitution G C upstream_gene_variant MELA-AU 12 6772522 6772522 single base substitution C T upstream_gene_variant MELA-AU 12 6772734 6772734 single base substitution C T upstream_gene_variant MELA-AU 12 6773786 6773786 single base substitution G A upstream_gene_variant MELA-AU 12 6774838 6774838 single base substitution T A upstream_gene_variant MELA-AU 12 6775147 6775147 single base substitution G A upstream_gene_variant MELA-AU 12 6775861 6775861 single base substitution G A upstream_gene_variant MELA-AU 12 6776073 6776073 single base substitution C T upstream_gene_variant MELA-AU 12 6776271 6776272 multiple base substitution (>=2bp and <=200bp) GG TA upstream_gene_variant MELA-AU 12 6776529 6776529 single base substitution G A upstream_gene_variant ORCA-IN 12 6769005 6769005 single base substitution C G intron_variant ORCA-IN 12 6769005 6769005 single base substitution C G upstream_gene_variant ORCA-IN 12 6770578 6770578 insertion of <=200bp - TG intron_variant ORCA-IN 12 6770578 6770578 insertion of <=200bp - TG upstream_gene_variant OV-AU 12 6765591 6765591 single base substitution T C downstream_gene_variant OV-AU 12 6765591 6765591 single base substitution T C intron_variant OV-AU 12 6765591 6765591 single base substitution T C upstream_gene_variant OV-AU 12 6766106 6766106 single base substitution G A intron_variant OV-AU 12 6766106 6766106 single base substitution G A upstream_gene_variant OV-AU 12 6766906 6766906 single base substitution G T intron_variant OV-AU 12 6766906 6766906 single base substitution G T upstream_gene_variant OV-AU 12 6767939 6767939 single base substitution C G intron_variant OV-AU 12 6767939 6767939 single base substitution C G upstream_gene_variant OV-AU 12 6771119 6771119 single base substitution C G intron_variant OV-AU 12 6772701 6772701 single base substitution G T upstream_gene_variant OV-AU 12 6773337 6773337 single base substitution C G upstream_gene_variant OV-AU 12 6776863 6776863 single base substitution G A upstream_gene_variant PACA-AU 12 6754994 6754994 single base substitution T C downstream_gene_variant PACA-AU 12 6758981 6758981 single base substitution C T downstream_gene_variant PACA-AU 12 6769957 6769957 single base substitution C T intron_variant PACA-AU 12 6769957 6769957 single base substitution C T upstream_gene_variant PACA-AU 12 6773456 6773456 single base substitution C A upstream_gene_variant PACA-CA 12 6754972 6754972 single base substitution G A downstream_gene_variant PACA-CA 12 6756942 6756942 single base substitution G A downstream_gene_variant PACA-CA 12 6757332 6757332 single base substitution G A downstream_gene_variant PACA-CA 12 6758223 6758223 single base substitution T G downstream_gene_variant PACA-CA 12 6758312 6758312 single base substitution C T downstream_gene_variant PACA-CA 12 6758820 6758820 single base substitution C T downstream_gene_variant PACA-CA 12 6760896 6760896 single base substitution C T downstream_gene_variant PACA-CA 12 6760896 6760896 single base substitution C T intron_variant PACA-CA 12 6761609 6761609 single base substitution T G downstream_gene_variant PACA-CA 12 6761609 6761609 single base substitution T G exon_variant PACA-CA 12 6761609 6761609 single base substitution T G intron_variant PACA-CA 12 6761657 6761659 deletion of <=200bp AGG - downstream_gene_variant PACA-CA 12 6761657 6761659 deletion of <=200bp AGG - exon_variant PACA-CA 12 6761657 6761659 deletion of <=200bp AGG - intron_variant PACA-CA 12 6763459 6763459 single base substitution G T downstream_gene_variant PACA-CA 12 6763459 6763459 single base substitution G T intron_variant PACA-CA 12 6763459 6763459 single base substitution G T upstream_gene_variant PACA-CA 12 6771112 6771112 single base substitution T C intron_variant PACA-CA 12 6775409 6775409 single base substitution G A upstream_gene_variant PRAD-CA 12 6757372 6757372 single base substitution T C downstream_gene_variant PRAD-CA 12 6760880 6760880 single base substitution G A downstream_gene_variant PRAD-CA 12 6760880 6760880 single base substitution G A intron_variant PRAD-UK 12 6760053 6760053 single base substitution A T 3_prime_UTR_variant PRAD-UK 12 6760053 6760053 single base substitution A T downstream_gene_variant PRAD-UK 12 6760053 6760053 single base substitution A T exon_variant PRAD-UK 12 6765994 6765994 single base substitution C A intron_variant PRAD-UK 12 6765994 6765994 single base substitution C A upstream_gene_variant RECA-EU 12 6758288 6758288 single base substitution G T downstream_gene_variant RECA-EU 12 6770580 6770580 single base substitution T G intron_variant RECA-EU 12 6770580 6770580 single base substitution T G upstream_gene_variant SKCA-BR 12 6756560 6756560 single base substitution T G downstream_gene_variant SKCA-BR 12 6760148 6760148 single base substitution G A 3_prime_UTR_variant SKCA-BR 12 6760148 6760148 single base substitution G A downstream_gene_variant SKCA-BR 12 6760148 6760148 single base substitution G A exon_variant SKCA-BR 12 6760788 6760788 single base substitution A C downstream_gene_variant SKCA-BR 12 6760788 6760788 single base substitution A C intron_variant SKCA-BR 12 6761507 6761507 single base substitution G A 3_prime_UTR_variant SKCA-BR 12 6761507 6761507 single base substitution G A downstream_gene_variant SKCA-BR 12 6761507 6761507 single base substitution G A exon_variant SKCA-BR 12 6761507 6761507 single base substitution G A intron_variant SKCA-BR 12 6761507 6761507 single base substitution G A missense_variant P169L 506C>T SKCA-BR 12 6761507 6761507 single base substitution G A missense_variant P189L 566C>T SKCA-BR 12 6761507 6761507 single base substitution G A missense_variant P190L 569C>T SKCA-BR 12 6761507 6761507 single base substitution G A missense_variant P192L 575C>T SKCA-BR 12 6761507 6761507 single base substitution G A missense_variant P193L 578C>T SKCA-BR 12 6761507 6761507 single base substitution G A missense_variant P21L 62C>T SKCA-BR 12 6762177 6762177 single base substitution G A 3_prime_UTR_variant SKCA-BR 12 6762177 6762177 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant SKCA-BR 12 6762177 6762177 single base substitution G A downstream_gene_variant SKCA-BR 12 6762177 6762177 single base substitution G A exon_variant SKCA-BR 12 6762177 6762177 single base substitution G A missense_variant R106C 316C>T SKCA-BR 12 6762177 6762177 single base substitution G A missense_variant R82C 244C>T SKCA-BR 12 6762229 6762229 single base substitution G A downstream_gene_variant SKCA-BR 12 6762229 6762229 single base substitution G A intron_variant SKCA-BR 12 6765970 6765970 single base substitution G A intron_variant SKCA-BR 12 6765970 6765970 single base substitution G A splice_region_variant SKCA-BR 12 6765970 6765970 single base substitution G A upstream_gene_variant SKCA-BR 12 6766880 6766880 single base substitution G A intron_variant SKCA-BR 12 6766880 6766880 single base substitution G A upstream_gene_variant SKCA-BR 12 6767326 6767326 single base substitution A T intron_variant SKCA-BR 12 6767326 6767326 single base substitution A T upstream_gene_variant SKCA-BR 12 6768118 6768120 deletion of <=200bp GCA - intron_variant SKCA-BR 12 6768118 6768120 deletion of <=200bp GCA - upstream_gene_variant SKCA-BR 12 6771547 6771547 single base substitution G A intron_variant SKCA-BR 12 6772398 6772398 single base substitution C T upstream_gene_variant SKCA-BR 12 6772404 6772404 single base substitution T C upstream_gene_variant SKCA-BR 12 6772577 6772577 single base substitution T G upstream_gene_variant SKCA-BR 12 6773870 6773870 single base substitution T G upstream_gene_variant SKCA-BR 12 6774414 6774424 deletion of <=200bp TTTTTTTTTTG - upstream_gene_variant SKCA-BR 12 6774415 6774424 deletion of <=200bp TTTTTTTTTG - upstream_gene_variant SKCA-BR 12 6776396 6776396 single base substitution G A upstream_gene_variant SKCM-US 12 6754500 6754501 deletion of <=200bp CT - downstream_gene_variant SKCM-US 12 6756023 6756023 single base substitution C T downstream_gene_variant SKCM-US 12 6760488 6760488 single base substitution A G downstream_gene_variant SKCM-US 12 6760488 6760488 single base substitution A G exon_variant SKCM-US 12 6760488 6760488 single base substitution A G splice_donor_variant SKCM-US 12 6761495 6761495 single base substitution G A 3_prime_UTR_variant SKCM-US 12 6761495 6761495 single base substitution G A downstream_gene_variant SKCM-US 12 6761495 6761495 single base substitution G A exon_variant SKCM-US 12 6761495 6761495 single base substitution G A intron_variant SKCM-US 12 6761495 6761495 single base substitution G A missense_variant T173I 518C>T SKCM-US 12 6761495 6761495 single base substitution G A missense_variant T193I 578C>T SKCM-US 12 6761495 6761495 single base substitution G A missense_variant T194I 581C>T SKCM-US 12 6761495 6761495 single base substitution G A missense_variant T196I 587C>T SKCM-US 12 6761495 6761495 single base substitution G A missense_variant T197I 590C>T SKCM-US 12 6761495 6761495 single base substitution G A missense_variant T25I 74C>T SKCM-US 12 6761506 6761506 single base substitution G A 3_prime_UTR_variant SKCM-US 12 6761506 6761506 single base substitution G A downstream_gene_variant SKCM-US 12 6761506 6761506 single base substitution G A exon_variant SKCM-US 12 6761506 6761506 single base substitution G A intron_variant SKCM-US 12 6761506 6761506 single base substitution G A synonymous_variant P169P 507C>T SKCM-US 12 6761506 6761506 single base substitution G A synonymous_variant P189P 567C>T SKCM-US 12 6761506 6761506 single base substitution G A synonymous_variant P190P 570C>T SKCM-US 12 6761506 6761506 single base substitution G A synonymous_variant P192P 576C>T SKCM-US 12 6761506 6761506 single base substitution G A synonymous_variant P193P 579C>T SKCM-US 12 6761506 6761506 single base substitution G A synonymous_variant P21P 63C>T SKCM-US 12 6761532 6761532 single base substitution C T 3_prime_UTR_variant SKCM-US 12 6761532 6761532 single base substitution C T downstream_gene_variant SKCM-US 12 6761532 6761532 single base substitution C T exon_variant SKCM-US 12 6761532 6761532 single base substitution C T intron_variant SKCM-US 12 6761532 6761532 single base substitution C T missense_variant D13N 37G>A SKCM-US 12 6761532 6761532 single base substitution C T missense_variant D161N 481G>A SKCM-US 12 6761532 6761532 single base substitution C T missense_variant D181N 541G>A SKCM-US 12 6761532 6761532 single base substitution C T missense_variant D182N 544G>A SKCM-US 12 6761532 6761532 single base substitution C T missense_variant D184N 550G>A SKCM-US 12 6761532 6761532 single base substitution C T missense_variant D185N 553G>A SKCM-US 12 6765953 6765953 single base substitution G A 5_prime_UTR_variant SKCM-US 12 6765953 6765953 single base substitution G A exon_variant SKCM-US 12 6765953 6765953 single base substitution G A intron_variant SKCM-US 12 6765953 6765953 single base substitution G A missense_variant L17F 49C>T SKCM-US 12 6765953 6765953 single base substitution G A upstream_gene_variant SKCM-US 12 6777167 6777167 single base substitution G A upstream_gene_variant STAD-US 12 6776956 6776956 single base substitution G A upstream_gene_variant STAD-US 12 6777196 6777196 single base substitution A G upstream_gene_variant STAD-US 12 6777207 6777207 single base substitution T C upstream_gene_variant THCA-SA 12 6760367 6760367 single base substitution C T 3_prime_UTR_variant THCA-SA 12 6760367 6760367 single base substitution C T downstream_gene_variant THCA-SA 12 6760367 6760367 single base substitution C T exon_variant THCA-SA 12 6760367 6760367 single base substitution C T synonymous_variant K224K 672G>A THCA-SA 12 6760367 6760367 single base substitution C T synonymous_variant K244K 732G>A THCA-SA 12 6760367 6760367 single base substitution C T synonymous_variant K245K 735G>A THCA-SA 12 6760367 6760367 single base substitution C T synonymous_variant K247K 741G>A THCA-SA 12 6760367 6760367 single base substitution C T synonymous_variant K248K 744G>A UCEC-US 12 6754473 6754473 single base substitution G A downstream_gene_variant UCEC-US 12 6761831 6761831 single base substitution C T 3_prime_UTR_variant UCEC-US 12 6761831 6761831 single base substitution C T 5_prime_UTR_variant UCEC-US 12 6761831 6761831 single base substitution C T downstream_gene_variant UCEC-US 12 6761831 6761831 single base substitution C T exon_variant UCEC-US 12 6761831 6761831 single base substitution C T missense_variant R142H 425G>A UCEC-US 12 6761831 6761831 single base substitution C T missense_variant R162H 485G>A UCEC-US 12 6761831 6761831 single base substitution C T missense_variant R163H 488G>A UCEC-US 12 6761831 6761831 single base substitution C T missense_variant R165H 494G>A UCEC-US 12 6761831 6761831 single base substitution C T missense_variant R166H 497G>A UCEC-US 12 6762186 6762186 single base substitution C A 3_prime_UTR_variant UCEC-US 12 6762186 6762186 single base substitution C A 5_prime_UTR_variant UCEC-US 12 6762186 6762186 single base substitution C A downstream_gene_variant UCEC-US 12 6762186 6762186 single base substitution C A exon_variant UCEC-US 12 6762186 6762186 single base substitution C A missense_variant D103Y 307G>T UCEC-US 12 6762186 6762186 single base substitution C A missense_variant D79Y 235G>T UCEC-US 12 6762421 6762421 single base substitution T C 3_prime_UTR_variant UCEC-US 12 6762421 6762421 single base substitution T C downstream_gene_variant UCEC-US 12 6762421 6762421 single base substitution T C exon_variant UCEC-US 12 6762421 6762421 single base substitution T C intron_variant UCEC-US 12 6762421 6762421 single base substitution T C missense_variant Q60R 179A>G UCEC-US 12 6762421 6762421 single base substitution T C missense_variant Q84R 251A>G UCEC-US 12 6777070 6777072 deletion of <=200bp TGC - upstream_gene_variant UCEC-US 12 6777070 6777087 deletion of <=200bp TGCTGCTGCTGCTGCTGC - upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-DA-A1IC-06 COSM3464425 c.550G>A p.D184N Substitution - Missense 12:6652366-6652366 - YUHEF COSM1704990 c.446C>T p.S149L Substitution - Missense 12:6652713-6652713 - CSCC-30-T COSM4502495 c.611C>T p.S204F Substitution - Missense 12:6652305-6652305 - TCGA-B5-A11J-01 COSM942788 c.251A>G p.Q84R Substitution - Missense 12:6653255-6653255 - SWE-4B COSM5521476 c.326C>A p.A109D Substitution - Missense 12:6653001-6653001 - TCGA-02-0114-01 COSM35704 c.660G>A p.W220* Substitution - Nonsense 12:6651371-6651371 - TCGA-AA-A00K-01 COSM298457 c.376A>T p.S126C Substitution - Missense 12:6652951-6652951 - TCGA-39-5031-01 COSM694699 c.505G>C p.E169Q Substitution - Missense 12:6652411-6652411 - HCT15 COSM1676676 c.695C>A p.P232H Substitution - Missense 12:6651336-6651336 - TCGA-02-0083-01 COSM35551 c.700G>A p.G234R Substitution - Missense 12:6651331-6651331 - TCGA-A8-A0A6-01 COSM1704989 c.586A>C p.T196P Substitution - Missense 12:6652330-6652330 - YUMILAN COSM5375828 c.315C>T p.A105A Substitution - coding silent 12:6653012-6653012 - TCGA-EE-A3JD-06 COSM4395166 c.707+2T>C p.? Unknown 12:6651322-6651322 - CSCC-20-T COSM4565238 c.189_190CC>TT p.L64F Substitution - Missense 12:6653316-6653317 - YUGLIDE COSM1704989 c.586A>C p.T196P Substitution - Missense 12:6652330-6652330 - TCGA-A6-6781-01 COSM1363800 c.395G>A p.R132Q Substitution - Missense 12:6652764-6652764 - PD6343a COSM1636825 c.705A>T p.K235N Substitution - Missense 12:6651326-6651326 - HCC078T COSM5805961 c.494G>T p.R165L Substitution - Missense 12:6652665-6652665 - TCGA-CK-5916-01 COSM2098813 c.447G>A p.S149S Substitution - coding silent 12:6652712-6652712 - 05-P8014 COSM4575681 c.519C>T p.P173P Substitution - coding silent 12:6652397-6652397 - TCGA-G2-A3VY-01 COSM3792918 c.528C>G p.T176T Substitution - coding silent 12:6652388-6652388 - TCGA-BP-4763-01 COSM1639223 c.295C>T p.R99W Substitution - Missense 12:6653032-6653032 - TCGA-D5-6930-01 COSM1363799 c.604C>T p.Q202* Substitution - Nonsense 12:6652312-6652312 - CSCC-56-T COSM4554976 c.634G>C p.D212H Substitution - Missense 12:6652282-6652282 - TCGA-66-2768-01 COSM549563 c.730G>C p.E244Q Substitution - Missense 12:6651212-6651212 - 9227_T COSM5041971 c.469G>A p.A157T Substitution - Missense 12:6652690-6652690 - TCGA-BS-A0TE-01 COSM942789 c.118G>A p.A40T Substitution - Missense 12:6653388-6653388 - TCGA-13-0891-01 COSM71167 c.316C>T p.R106C Substitution - Missense 12:6653011-6653011 - T2269 COSM1704990 c.446C>T p.S149L Substitution - Missense 12:6652713-6652713 - TARGET-30-PASEGA COSM1285542 c.628G>A p.G210S Substitution - Missense 12:6652288-6652288 - TCGA-AP-A051-01 COSM942787 c.307G>T p.D103Y Substitution - Missense 12:6653020-6653020 - TCGA-EE-A29S-06 COSM3464424 c.576C>T p.P192P Substitution - coding silent 12:6652340-6652340 - C086 COSM5532729 c.725C>T p.S242F Substitution - Missense 12:6651217-6651217 - HCT116 COSM2098817 c.317G>A p.R106H Substitution - Missense 12:6653010-6653010 - LUAD-S01315 COSM344202 c.498-2A>T p.? Unknown 12:6652420-6652420 - TCGA-FR-A3YO-06 COSM3464426 c.49C>T p.L17F Substitution - Missense 12:6656787-6656787 - HCT8 COSM4633725 c.326C>T p.A109V Substitution - Missense 12:6653001-6653001 - CSCC-27-T COSM4446224 c.708-3C>T p.? Unknown 12:6651237-6651237 - 66 COSM2098811 c.493C>T p.R165C Substitution - Missense 12:6652666-6652666 - TCGA-FW-A3R5-06 COSM3872301 c.587C>T p.T196I Substitution - Missense 12:6652329-6652329 - YUSEL COSM1704988 c.595C>T p.L199F Substitution - Missense 12:6652321-6652321 - HCT15 COSM2098821 c.117G>A p.K39K Substitution - coding silent 12:6653389-6653389 - PT49 COSM5935875 c.646-7C>T p.? Unknown 12:6651392-6651392 - TCGA-IR-A3LI-01 COSM4846042 c.416C>A p.A139D Substitution - Missense 12:6652743-6652743 - YULAN COSM1704990 c.446C>T p.S149L Substitution - Missense 12:6652713-6652713 - DLD1 COSM1676676 c.695C>A p.P232H Substitution - Missense 12:6651336-6651336 - pfg019T COSM1639223 c.295C>T p.R99W Substitution - Missense 12:6653032-6653032 - TCGA-A8-A092-01 COSM431722 c.349G>A p.E117K Substitution - Missense 12:6652978-6652978 - TCGA-B5-A11E-01 COSM942786 c.494G>A p.R165H Substitution - Missense 12:6652665-6652665 - pfg068T COSM2098817 c.317G>A p.R106H Substitution - Missense 12:6653010-6653010 - 259610 COSM3725426 c.522A>C p.S174S Substitution - coding silent 12:6652394-6652394 - PT49 COSM5935876 c.38-6C>T p.? Unknown 12:6656804-6656804 - HCT-15 COSM1676676 c.695C>A p.P232H Substitution - Missense 12:6651336-6651336 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.524210 12p13.31 608524 2451302|CGAP|BC007781|A/G|non-coding||1175|Candidate; 2451302|CGAP|BC095434|A/G|non-coding||1174|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G SpliceDonorSNV . c.710+2T>C 12 6760488 CM C A Missense p.A141S c.421G>T 12 6761907 LUAD C G Missense p.E170Q c.508G>C 12 6761577 LUSC C G Missense p.E245Q c.733G>C 12 6760378 LUAD C G Missense p.E245Q c.733G>C 12 6760378 LUSC C T 5-UTRSNV . c.1-24G>A 12 6772291 CM C T Missense p.D185N c.553G>A 12 6761532 CM C T Missense p.E117K c.349G>A 12 6762144 BRCA C T Missense p.G211S c.631G>A 12 6761454 NB G A IntronicSNV . c.392-80C>T 12 6762016 CM G A IntronicSNV . c.501-74C>T 12 6761658 CM G A Missense p.R106C c.316C>T 12 6762177 OV G A Missense p.R99W c.295C>T 12 6762198 RCCC G A Missense p.R99W c.295C>T 12 6762198 STAD G A Synonymous p.P193P c.579C>T 12 6761506 CM T A Missense p.S126C c.376A>T 12 6762117 COREAD T C Missense p.Q84R c.251A>G 12 6762421 UCEC