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 21 46233984 46233984 + Silent SNP C C T TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr21:46233984C>T c.57G>A c.(55-57)ctG>ctA p.L19L CESC 21 46226929 46226929 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 g.chr21:46226929G>A c.299C>T c.(298-300)tCg>tTg p.S100L COAD 21 46233930 46233930 + Silent SNP C C T TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr21:46233930C>T c.111G>A c.(109-111)acG>acA p.T37T COADREAD 21 46233930 46233930 + Silent SNP C C T TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr21:46233930C>T c.111G>A c.(109-111)acG>acA p.T37T GBMLGG 21 46233927 46233927 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr21:46233927C>T c.114G>A c.(112-114)ccG>ccA p.P38P HNSC 21 46226908 46226908 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 g.chr21:46226908C>T c.320G>A c.(319-321)cGg>cAg p.R107Q KIPAN 21 46226870 46226870 + Missense_Mutation SNP A A C TCGA-2Z-A9JL-01A-11D-A42J-10 TCGA-2Z-A9JL-10A-01D-A42M-10 g.chr21:46226870A>C c.358T>G c.(358-360)Tct>Gct p.S120A KIRP 21 46226870 46226870 + Missense_Mutation SNP A A C TCGA-2Z-A9JL-01A-11D-A42J-10 TCGA-2Z-A9JL-10A-01D-A42M-10 g.chr21:46226870A>C c.358T>G c.(358-360)Tct>Gct p.S120A LGG 21 46233927 46233927 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr21:46233927C>T c.114G>A c.(112-114)ccG>ccA p.P38P LUAD 21 46229022 46229022 + Missense_Mutation SNP C C T TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 g.chr21:46229022C>T c.162G>A c.(160-162)atG>atA p.M54I OV 21 46233960 46233960 + Silent SNP G G T TCGA-23-2643-01A-01D-1526-09 TCGA-23-2643-10A-01D-1526-09 g.chr21:46233960G>T c.81C>A c.(79-81)tcC>tcA p.S27S PAAD 21 46229016 46229016 + Silent SNP C C T TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 g.chr21:46229016C>T c.168G>A c.(166-168)caG>caA p.Q56Q PAAD 21 46233942 46233942 + Silent SNP G G T TCGA-YB-A89D-01A-12D-A36O-08 TCGA-YB-A89D-10A-01D-A367-08 g.chr21:46233942G>T c.99C>A c.(97-99)atC>atA p.I33I SKCM 21 46226920 46226920 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 g.chr21:46226920G>A c.308C>T c.(307-309)tCc>tTc p.S103F

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 21 46222190 46222190 single base substitution C T downstream_gene_variant BRCA-EU 21 46222865 46222865 single base substitution C T downstream_gene_variant BRCA-EU 21 46225674 46225674 single base substitution A T 3_prime_UTR_variant BRCA-EU 21 46225674 46225674 single base substitution A T downstream_gene_variant BRCA-EU 21 46225674 46225674 single base substitution A T exon_variant BRCA-EU 21 46226554 46226554 single base substitution A G 3_prime_UTR_variant BRCA-EU 21 46226554 46226554 single base substitution A G downstream_gene_variant BRCA-EU 21 46226554 46226554 single base substitution A G exon_variant BRCA-EU 21 46227239 46227239 single base substitution A C downstream_gene_variant BRCA-EU 21 46227239 46227239 single base substitution A C intron_variant BRCA-EU 21 46228128 46228128 deletion of <=200bp A - downstream_gene_variant BRCA-EU 21 46228128 46228128 deletion of <=200bp A - intron_variant BRCA-EU 21 46228282 46228282 single base substitution G T intron_variant BRCA-EU 21 46228282 46228282 single base substitution G T missense_variant L142I 424C>A BRCA-EU 21 46229064 46229064 single base substitution C T downstream_gene_variant BRCA-EU 21 46229064 46229064 single base substitution C T intron_variant BRCA-EU 21 46229229 46229229 single base substitution C A downstream_gene_variant BRCA-EU 21 46229229 46229229 single base substitution C A intron_variant BRCA-EU 21 46230931 46230931 insertion of <=200bp - ACACACACGCACACACCCACACATACACACACACGA downstream_gene_variant BRCA-EU 21 46230931 46230931 insertion of <=200bp - ACACACACGCACACACCCACACATACACACACACGA intron_variant BRCA-EU 21 46232085 46232085 single base substitution C T downstream_gene_variant BRCA-EU 21 46232085 46232085 single base substitution C T intron_variant BRCA-EU 21 46232815 46232815 single base substitution C A downstream_gene_variant BRCA-EU 21 46232815 46232815 single base substitution C A intron_variant BRCA-EU 21 46232936 46232936 single base substitution C T downstream_gene_variant BRCA-EU 21 46232936 46232936 single base substitution C T intron_variant BRCA-EU 21 46234490 46234490 single base substitution C T intron_variant BRCA-EU 21 46234931 46234931 single base substitution G A intron_variant BRCA-EU 21 46238030 46238030 insertion of <=200bp - G 5_prime_UTR_variant BRCA-EU 21 46238030 46238030 insertion of <=200bp - G intron_variant BRCA-EU 21 46238030 46238030 insertion of <=200bp - G upstream_gene_variant BRCA-EU 21 46238709 46238709 single base substitution C T upstream_gene_variant BRCA-EU 21 46239664 46239664 single base substitution A T upstream_gene_variant BRCA-FR 21 46221637 46221637 single base substitution C T downstream_gene_variant BRCA-FR 21 46221768 46221768 single base substitution C T downstream_gene_variant BRCA-FR 21 46222359 46222359 single base substitution C G downstream_gene_variant BRCA-FR 21 46225674 46225674 single base substitution A T 3_prime_UTR_variant BRCA-FR 21 46225674 46225674 single base substitution A T downstream_gene_variant BRCA-FR 21 46225674 46225674 single base substitution A T exon_variant BRCA-FR 21 46234956 46234956 single base substitution G T intron_variant BRCA-FR 21 46238709 46238709 single base substitution C T upstream_gene_variant BRCA-UK 21 46221698 46221698 single base substitution C T downstream_gene_variant CESC-US 21 46225784 46225784 single base substitution G A 3_prime_UTR_variant CESC-US 21 46225784 46225784 single base substitution G A downstream_gene_variant CESC-US 21 46225784 46225784 single base substitution G A exon_variant CESC-US 21 46226693 46226693 single base substitution G C 3_prime_UTR_variant CESC-US 21 46226693 46226693 single base substitution G C downstream_gene_variant CESC-US 21 46226693 46226693 single base substitution G C exon_variant CESC-US 21 46226929 46226929 single base substitution G A downstream_gene_variant CESC-US 21 46226929 46226929 single base substitution G A exon_variant CESC-US 21 46226929 46226929 single base substitution G A missense_variant S100L 299C>T CESC-US 21 46226929 46226929 single base substitution G A synonymous_variant I121I 363C>T CESC-US 21 46226929 46226929 single base substitution G A synonymous_variant I83I 249C>T CESC-US 21 46228470 46228470 single base substitution G C downstream_gene_variant CESC-US 21 46228470 46228470 single base substitution G C intron_variant CESC-US 21 46228470 46228470 single base substitution G C stop_gained S79* 236C>G CLLE-ES 21 46227444 46227444 single base substitution C A downstream_gene_variant CLLE-ES 21 46227444 46227444 single base substitution C A intron_variant COAD-US 21 46233930 46233930 single base substitution C T exon_variant COAD-US 21 46233930 46233930 single base substitution C T synonymous_variant T37T 111G>A COCA-CN 21 46228561 46228561 single base substitution G T downstream_gene_variant COCA-CN 21 46228561 46228561 single base substitution G T intron_variant COCA-CN 21 46233995 46233995 single base substitution G T exon_variant COCA-CN 21 46233995 46233995 single base substitution G T missense_variant H16N 46C>A ESAD-UK 21 46221172 46221172 single base substitution T C downstream_gene_variant ESAD-UK 21 46222648 46222648 deletion of <=200bp A - downstream_gene_variant ESAD-UK 21 46222965 46222966 deletion of <=200bp TT - downstream_gene_variant ESAD-UK 21 46225053 46225053 single base substitution G A downstream_gene_variant ESAD-UK 21 46226275 46226275 single base substitution C A 3_prime_UTR_variant ESAD-UK 21 46226275 46226275 single base substitution C A downstream_gene_variant ESAD-UK 21 46226275 46226275 single base substitution C A exon_variant ESAD-UK 21 46228224 46228224 single base substitution G A 3_prime_UTR_variant ESAD-UK 21 46228224 46228224 single base substitution G A intron_variant ESAD-UK 21 46229625 46229625 single base substitution A T downstream_gene_variant ESAD-UK 21 46229625 46229625 single base substitution A T intron_variant ESAD-UK 21 46235366 46235366 single base substitution C T intron_variant ESAD-UK 21 46239621 46239621 single base substitution G A upstream_gene_variant ESAD-UK 21 46241188 46241188 single base substitution G C upstream_gene_variant ESAD-UK 21 46241279 46241279 single base substitution C A upstream_gene_variant ESAD-UK 21 46243452 46243452 single base substitution T A upstream_gene_variant ESAD-UK 21 46243588 46243588 single base substitution G C upstream_gene_variant ESCA-CN 21 46229097 46229097 single base substitution C G downstream_gene_variant ESCA-CN 21 46229097 46229097 single base substitution C G intron_variant ESCA-CN 21 46233878 46233878 single base substitution C T exon_variant ESCA-CN 21 46233878 46233878 single base substitution C T intron_variant ESCA-CN 21 46233878 46233878 single base substitution C T missense_variant A55T 163G>A LINC-JP 21 46231128 46231128 single base substitution A G downstream_gene_variant LINC-JP 21 46231128 46231128 single base substitution A G intron_variant LIRI-JP 21 46223049 46223049 single base substitution T G downstream_gene_variant LIRI-JP 21 46223907 46223907 single base substitution T G downstream_gene_variant LIRI-JP 21 46225838 46225838 single base substitution G T 3_prime_UTR_variant LIRI-JP 21 46225838 46225838 single base substitution G T downstream_gene_variant LIRI-JP 21 46225838 46225838 single base substitution G T exon_variant LIRI-JP 21 46226253 46226253 single base substitution G A 3_prime_UTR_variant LIRI-JP 21 46226253 46226253 single base substitution G A downstream_gene_variant LIRI-JP 21 46226253 46226253 single base substitution G A exon_variant LIRI-JP 21 46227424 46227424 single base substitution C T downstream_gene_variant LIRI-JP 21 46227424 46227424 single base substitution C T intron_variant LIRI-JP 21 46233495 46233515 deletion of <=200bp GAGGACAGGGTGACAGCGGCG - exon_variant LIRI-JP 21 46233495 46233515 deletion of <=200bp GAGGACAGGGTGACAGCGGCG - intron_variant LUSC-KR 21 46221017 46221017 single base substitution G T downstream_gene_variant LUSC-KR 21 46233863 46233863 single base substitution G C exon_variant LUSC-KR 21 46233863 46233863 single base substitution G C intron_variant LUSC-KR 21 46233863 46233863 single base substitution G C missense_variant L60V 178C>G LUSC-KR 21 46234606 46234606 single base substitution G A intron_variant LUSC-KR 21 46241601 46241601 single base substitution C A upstream_gene_variant LUSC-KR 21 46241933 46241933 single base substitution T C upstream_gene_variant LUSC-KR 21 46242657 46242657 single base substitution A G upstream_gene_variant LUSC-KR 21 46242774 46242774 single base substitution G A upstream_gene_variant LUSC-KR 21 46243584 46243584 single base substitution G C upstream_gene_variant MALY-DE 21 46226575 46226575 single base substitution A C 3_prime_UTR_variant MALY-DE 21 46226575 46226575 single base substitution A C downstream_gene_variant MALY-DE 21 46226575 46226575 single base substitution A C exon_variant MELA-AU 21 46221419 46221419 single base substitution G A downstream_gene_variant MELA-AU 21 46221800 46221801 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 21 46222436 46222436 single base substitution A G downstream_gene_variant MELA-AU 21 46223735 46223735 single base substitution T G downstream_gene_variant MELA-AU 21 46224722 46224722 single base substitution A T downstream_gene_variant MELA-AU 21 46225173 46225173 single base substitution G A downstream_gene_variant MELA-AU 21 46226179 46226179 single base substitution G A 3_prime_UTR_variant MELA-AU 21 46226179 46226179 single base substitution G A downstream_gene_variant MELA-AU 21 46226179 46226179 single base substitution G A exon_variant MELA-AU 21 46226596 46226596 single base substitution G A 3_prime_UTR_variant MELA-AU 21 46226596 46226596 single base substitution G A downstream_gene_variant MELA-AU 21 46226596 46226596 single base substitution G A exon_variant MELA-AU 21 46226764 46226764 single base substitution A T 3_prime_UTR_variant MELA-AU 21 46226764 46226764 single base substitution A T downstream_gene_variant MELA-AU 21 46226764 46226764 single base substitution A T exon_variant MELA-AU 21 46227329 46227329 single base substitution G A downstream_gene_variant MELA-AU 21 46227329 46227329 single base substitution G A intron_variant MELA-AU 21 46227669 46227669 single base substitution A C downstream_gene_variant MELA-AU 21 46227669 46227669 single base substitution A C intron_variant MELA-AU 21 46228291 46228291 single base substitution G A intron_variant MELA-AU 21 46228291 46228291 single base substitution G A missense_variant H139Y 415C>T MELA-AU 21 46228560 46228560 single base substitution G A downstream_gene_variant MELA-AU 21 46228560 46228560 single base substitution G A intron_variant MELA-AU 21 46228903 46228903 single base substitution G A downstream_gene_variant MELA-AU 21 46228903 46228903 single base substitution G A intron_variant MELA-AU 21 46229250 46229250 single base substitution G A downstream_gene_variant MELA-AU 21 46229250 46229250 single base substitution G A intron_variant MELA-AU 21 46229585 46229585 single base substitution G A downstream_gene_variant MELA-AU 21 46229585 46229585 single base substitution G A intron_variant MELA-AU 21 46230231 46230231 single base substitution G A downstream_gene_variant MELA-AU 21 46230231 46230231 single base substitution G A intron_variant MELA-AU 21 46230283 46230283 single base substitution G A downstream_gene_variant MELA-AU 21 46230283 46230283 single base substitution G A intron_variant MELA-AU 21 46230452 46230452 single base substitution G A downstream_gene_variant MELA-AU 21 46230452 46230452 single base substitution G A intron_variant MELA-AU 21 46230954 46230954 single base substitution T C downstream_gene_variant MELA-AU 21 46230954 46230954 single base substitution T C intron_variant MELA-AU 21 46231415 46231415 single base substitution G A downstream_gene_variant MELA-AU 21 46231415 46231415 single base substitution G A intron_variant MELA-AU 21 46231486 46231486 single base substitution C G downstream_gene_variant MELA-AU 21 46231486 46231486 single base substitution C G intron_variant MELA-AU 21 46231666 46231666 single base substitution G A downstream_gene_variant MELA-AU 21 46231666 46231666 single base substitution G A intron_variant MELA-AU 21 46232787 46232788 multiple base substitution (>=2bp and <=200bp) CC GT downstream_gene_variant MELA-AU 21 46232787 46232788 multiple base substitution (>=2bp and <=200bp) CC GT intron_variant MELA-AU 21 46233858 46233858 single base substitution G A exon_variant MELA-AU 21 46233858 46233858 single base substitution G A intron_variant MELA-AU 21 46233858 46233858 single base substitution G A synonymous_variant P61P 183C>T MELA-AU 21 46235969 46235970 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 21 46237740 46237741 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 21 46238476 46238476 single base substitution C T intron_variant MELA-AU 21 46238476 46238476 single base substitution C T upstream_gene_variant MELA-AU 21 46238876 46238876 single base substitution C T upstream_gene_variant MELA-AU 21 46239050 46239050 single base substitution T C upstream_gene_variant MELA-AU 21 46239232 46239232 single base substitution C T upstream_gene_variant MELA-AU 21 46239295 46239295 single base substitution C A upstream_gene_variant MELA-AU 21 46239745 46239745 single base substitution C T upstream_gene_variant MELA-AU 21 46239859 46239859 single base substitution C T upstream_gene_variant MELA-AU 21 46239899 46239899 single base substitution C T upstream_gene_variant MELA-AU 21 46240156 46240156 single base substitution G A upstream_gene_variant MELA-AU 21 46240224 46240224 single base substitution C T upstream_gene_variant MELA-AU 21 46240476 46240477 multiple base substitution (>=2bp and <=200bp) CA AC upstream_gene_variant MELA-AU 21 46240670 46240670 single base substitution A G upstream_gene_variant MELA-AU 21 46240784 46240784 single base substitution G A upstream_gene_variant MELA-AU 21 46241183 46241183 single base substitution C T upstream_gene_variant MELA-AU 21 46241968 46241968 single base substitution G A upstream_gene_variant MELA-AU 21 46242089 46242089 single base substitution C T upstream_gene_variant MELA-AU 21 46242183 46242183 single base substitution G A upstream_gene_variant MELA-AU 21 46243201 46243201 single base substitution G A upstream_gene_variant MELA-AU 21 46243385 46243385 single base substitution C T upstream_gene_variant MELA-AU 21 46243492 46243492 single base substitution G A upstream_gene_variant MELA-AU 21 46243662 46243662 single base substitution G A upstream_gene_variant OV-AU 21 46226780 46226780 single base substitution G A 3_prime_UTR_variant OV-AU 21 46226780 46226780 single base substitution G A downstream_gene_variant OV-AU 21 46226780 46226780 single base substitution G A exon_variant OV-AU 21 46229272 46229272 single base substitution G T downstream_gene_variant OV-AU 21 46229272 46229272 single base substitution G T intron_variant PACA-AU 21 46225938 46225938 single base substitution T G 3_prime_UTR_variant PACA-AU 21 46225938 46225938 single base substitution T G downstream_gene_variant PACA-AU 21 46225938 46225938 single base substitution T G exon_variant PACA-AU 21 46231398 46231398 single base substitution G A downstream_gene_variant PACA-AU 21 46231398 46231398 single base substitution G A intron_variant PACA-AU 21 46233915 46233915 single base substitution C T exon_variant PACA-AU 21 46233915 46233915 single base substitution C T synonymous_variant L42L 126G>A PACA-AU 21 46235668 46235668 single base substitution G C intron_variant PACA-AU 21 46241017 46241017 single base substitution C T upstream_gene_variant PACA-AU 21 46241259 46241259 single base substitution C T upstream_gene_variant PACA-CA 21 46220593 46220593 single base substitution A C downstream_gene_variant PACA-CA 21 46228666 46228666 single base substitution C T downstream_gene_variant PACA-CA 21 46228666 46228666 single base substitution C T intron_variant PACA-CA 21 46228930 46228930 single base substitution C T downstream_gene_variant PACA-CA 21 46228930 46228930 single base substitution C T intron_variant PACA-CA 21 46228930 46228930 single base substitution C T missense_variant R85Q 254G>A PACA-CA 21 46231501 46231501 single base substitution G A downstream_gene_variant PACA-CA 21 46231501 46231501 single base substitution G A intron_variant PACA-CA 21 46239953 46239953 single base substitution G A upstream_gene_variant PBCA-DE 21 46229723 46229723 single base substitution C T downstream_gene_variant PBCA-DE 21 46229723 46229723 single base substitution C T intron_variant PBCA-DE 21 46232380 46232380 single base substitution C T downstream_gene_variant PBCA-DE 21 46232380 46232380 single base substitution C T intron_variant PBCA-DE 21 46234241 46234241 single base substitution C T intron_variant PBCA-DE 21 46235614 46235614 single base substitution G A intron_variant PBCA-DE 21 46237689 46237689 single base substitution G A intron_variant PBCA-DE 21 46240288 46240288 single base substitution C T upstream_gene_variant PRAD-CA 21 46221995 46221995 single base substitution C T downstream_gene_variant PRAD-UK 21 46229272 46229272 single base substitution G A downstream_gene_variant PRAD-UK 21 46229272 46229272 single base substitution G A intron_variant PRAD-UK 21 46230886 46230913 deletion of <=200bp CATGCACACACCCATGCACACACCCACA - downstream_gene_variant PRAD-UK 21 46230886 46230913 deletion of <=200bp CATGCACACACCCATGCACACACCCACA - intron_variant PRAD-UK 21 46240419 46240419 single base substitution C T upstream_gene_variant PRAD-UK 21 46240687 46240687 single base substitution C T upstream_gene_variant PRAD-US 21 46233779 46233779 single base substitution C T exon_variant PRAD-US 21 46233779 46233779 single base substitution C T intron_variant PRAD-US 21 46233779 46233779 single base substitution C T missense_variant E88K 262G>A PRAD-US 21 46233855 46233855 single base substitution C T exon_variant PRAD-US 21 46233855 46233855 single base substitution C T intron_variant PRAD-US 21 46233855 46233855 single base substitution C T synonymous_variant V62V 186G>A RECA-EU 21 46223526 46223526 single base substitution G C downstream_gene_variant RECA-EU 21 46225713 46225713 single base substitution G A 3_prime_UTR_variant RECA-EU 21 46225713 46225713 single base substitution G A downstream_gene_variant RECA-EU 21 46225713 46225713 single base substitution G A exon_variant RECA-EU 21 46232108 46232108 single base substitution A T downstream_gene_variant RECA-EU 21 46232108 46232108 single base substitution A T intron_variant RECA-EU 21 46232566 46232566 single base substitution G C downstream_gene_variant RECA-EU 21 46232566 46232566 single base substitution G C intron_variant RECA-EU 21 46235188 46235188 single base substitution C A intron_variant RECA-EU 21 46235898 46235898 single base substitution G T intron_variant SKCA-BR 21 46221525 46221525 single base substitution T C downstream_gene_variant SKCA-BR 21 46221654 46221654 single base substitution T C downstream_gene_variant SKCA-BR 21 46221741 46221741 single base substitution C T downstream_gene_variant SKCA-BR 21 46222382 46222382 single base substitution A G downstream_gene_variant SKCA-BR 21 46225067 46225067 single base substitution C T downstream_gene_variant SKCA-BR 21 46225209 46225209 single base substitution A C downstream_gene_variant SKCA-BR 21 46226181 46226181 single base substitution T G 3_prime_UTR_variant SKCA-BR 21 46226181 46226181 single base substitution T G downstream_gene_variant SKCA-BR 21 46226181 46226181 single base substitution T G exon_variant SKCA-BR 21 46227163 46227163 single base substitution A G downstream_gene_variant SKCA-BR 21 46227163 46227163 single base substitution A G intron_variant SKCA-BR 21 46229827 46229827 single base substitution A C downstream_gene_variant SKCA-BR 21 46229827 46229827 single base substitution A C intron_variant SKCA-BR 21 46231968 46231968 insertion of <=200bp - CCTTTT downstream_gene_variant SKCA-BR 21 46231968 46231968 insertion of <=200bp - CCTTTT intron_variant SKCA-BR 21 46234437 46234437 single base substitution A G intron_variant SKCA-BR 21 46237709 46237709 single base substitution G A intron_variant SKCA-BR 21 46238790 46238790 single base substitution T G upstream_gene_variant SKCA-BR 21 46240277 46240277 single base substitution G A upstream_gene_variant SKCM-US 21 46226920 46226920 single base substitution G A downstream_gene_variant SKCM-US 21 46226920 46226920 single base substitution G A exon_variant SKCM-US 21 46226920 46226920 single base substitution G A missense_variant S103F 308C>T SKCM-US 21 46226920 46226920 single base substitution G A synonymous_variant F124F 372C>T SKCM-US 21 46226920 46226920 single base substitution G A synonymous_variant F86F 258C>T STAD-US 21 46226874 46226875 deletion of <=200bp TG - downstream_gene_variant STAD-US 21 46226874 46226875 deletion of <=200bp TG - exon_variant STAD-US 21 46226874 46226875 deletion of <=200bp TG - frameshift_variant HS101 STAD-US 21 46226874 46226875 deletion of <=200bp TG - frameshift_variant HS139 STAD-US 21 46226874 46226875 deletion of <=200bp TG - frameshift_variant T118 STAD-US 21 46226885 46226885 single base substitution A G downstream_gene_variant STAD-US 21 46226885 46226885 single base substitution A G exon_variant STAD-US 21 46226885 46226885 single base substitution A G missense_variant L136P 407T>C STAD-US 21 46226885 46226885 single base substitution A G missense_variant L98P 293T>C STAD-US 21 46226885 46226885 single base substitution A G missense_variant W115R 343T>C STAD-US 21 46233931 46233931 single base substitution G A exon_variant STAD-US 21 46233931 46233931 single base substitution G A missense_variant T37M 110C>T THCA-SA 21 46225665 46225665 single base substitution T G 3_prime_UTR_variant THCA-SA 21 46225665 46225665 single base substitution T G downstream_gene_variant THCA-SA 21 46225665 46225665 single base substitution T G exon_variant UCEC-US 21 46226848 46226848 single base substitution G A 3_prime_UTR_variant UCEC-US 21 46226848 46226848 single base substitution G A downstream_gene_variant UCEC-US 21 46226848 46226848 single base substitution G A exon_variant UCEC-US 21 46226848 46226848 single base substitution G A missense_variant P127L 380C>T UCEC-US 21 46228918 46228918 single base substitution C T downstream_gene_variant UCEC-US 21 46228918 46228918 single base substitution C T intron_variant UCEC-US 21 46228918 46228918 single base substitution C T missense_variant C89Y 266G>A UCEC-US 21 46228960 46228960 single base substitution A G downstream_gene_variant UCEC-US 21 46228960 46228960 single base substitution A G missense_variant V75A 224T>C UCEC-US 21 46228960 46228960 single base substitution A G splice_donor_variant UCEC-US 21 46229001 46229001 single base substitution G A downstream_gene_variant UCEC-US 21 46229001 46229001 single base substitution G A exon_variant UCEC-US 21 46229001 46229001 single base substitution G A synonymous_variant F61F 183C>T UCEC-US 21 46229001 46229001 single base substitution G A synonymous_variant F99F 297C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-C5-A3HE-01 COSM4827692 c.249C>T p.I83I Substitution - coding silent 21:44807014-44807014 - SJHGG099_D COSM4971777 c.24G>A p.E8E Substitution - coding silent 21:44814102-44814102 - TCGA-D5-6928-01 COSM1414442 c.111G>A p.T37T Substitution - coding silent 21:44814015-44814015 - TCGA-D3-A51G-06 COSM3551537 c.258C>T p.F86F Substitution - coding silent 21:44807005-44807005 - PT37 COSM5921814 c.112C>T p.P38S Substitution - Missense 21:44814014-44814014 - SJHGG099_D COSM4971779 c.22-1G>A p.? Unknown 21:44814105-44814105 - PT38 COSM5923386 c.283G>A p.E95K Substitution - Missense 21:44806980-44806980 - TCGA-AP-A054-01 COSM1031350 c.222+2T>C p.? Unknown 21:44809045-44809045 - TCGA-F1-6177-01 COSM4102013 c.110C>T p.T37M Substitution - Missense 21:44814016-44814016 - ESO-1060 COSM1267027 c.99C>G p.I33M Substitution - Missense 21:44814027-44814027 - STC291 COSM5057628 c.50T>G p.I17S Substitution - Missense 21:44814076-44814076 - T3724 COSM4730870 c.125T>C p.L42P Substitution - Missense 21:44814001-44814001 - CRC-06T COSM5456861 c.46C>A p.H16N Substitution - Missense 21:44814080-44814080 - LUAD-F00282 COSM367313 c.198C>T p.I66I Substitution - coding silent 21:44809071-44809071 - Gp2D COSM2821397 c.29T>C p.V10A Substitution - Missense 21:44814097-44814097 - T96 COSM241805 c.102G>T p.K34N Substitution - Missense 21:44814024-44814024 - TCGA-23-2643-01 COSM1327369 c.81C>A p.S27S Substitution - coding silent 21:44814045-44814045 - 587228 COSM1228009 c.113C>T p.P38L Substitution - Missense 21:44814013-44814013 - TCGA-B5-A0JY-01 COSM1031351 c.183C>T p.F61F Substitution - coding silent 21:44809086-44809086 - LUAD-NYU575 COSM375060 c.300G>A p.G100G Substitution - coding silent 21:44806963-44806963 - Gp5D COSM2821397 c.29T>C p.V10A Substitution - Missense 21:44814097-44814097 - LUAD-S01354 COSM385921 c.66C>T p.A22A Substitution - coding silent 21:44814060-44814060 - 8061185 COSM3390027 c.126G>A p.L42L Substitution - coding silent 21:44814000-44814000 - TCGA-HU-A4G9-01 COSM4102011 c.293T>C p.L98P Substitution - Missense 21:44806970-44806970 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.474005 21q22.3 602231 1526794|dbSNP|BC000036|C/T|non-coding||477|Validated; 1526794|dbSNP|BC008420|C/T|non-coding||552|Validated; 1526802|dbSNP|BC000036|A/C|non-coding||697|Candidate; 1526802|dbSNP|BC008420|A/C|non-coding||772|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G SpliceDonorSNV . c.222+2T>C 21 46228960 UCEC C A Missense p.V85L c.253G>T 21 46226925 LUAD C T IntronicSNV . c.222+44G>A 21 46228918 UCEC C T Synonymous p.T90T c.270G>A 21 46226908 HNSC G A 3-UTRSNV . c.309+25C>T 21 46226844 CM G A IntronicSNV . c.222+25C>T 21 46228937 CM G A Missense p.T37M c.110C>T 21 46233931 STAD G C Missense p.I33M c.99C>G 21 46233942 ESCA