Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 1 43850152 43850152 + 3'UTR SNP C C T TCGA-OR-A5JV-01A-11D-A29I-10 TCGA-OR-A5JV-10A-01D-A29L-10 g.chr1:43850152C>T BLCA 1 43850725 43850725 + Frame_Shift_Del DEL G G - TCGA-GU-A42P-01A-11D-A23U-08 TCGA-GU-A42P-10A-01D-A23U-08 g.chr1:43850725delG c.795delC c.(793-795)cccfs p.P265fs BLCA 1 43851731 43851731 + Missense_Mutation SNP T T G TCGA-UY-A9PB-01A-11D-A38G-08 TCGA-UY-A9PB-10A-01D-A38J-08 g.chr1:43851731T>G c.660A>C c.(658-660)ttA>ttC p.L220F BRCA 1 43850137 43850137 + 3'UTR SNP T T G TCGA-A2-A0T5-01A-21D-A099-09 TCGA-A2-A0T5-10A-01D-A099-09 g.chr1:43850137T>G BRCA 1 43852271 43852271 + Nonsense_Mutation SNP G G C TCGA-D8-A13Y-01A-11D-A10Y-09 TCGA-D8-A13Y-10A-01D-A110-09 g.chr1:43852271G>C c.482C>G c.(481-483)tCa>tGa p.S161* BRCA 1 43852650 43852650 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr1:43852650A>C c.290T>G c.(289-291)gTg>gGg p.V97G CESC 1 43853286 43853286 + Missense_Mutation SNP G G A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 g.chr1:43853286G>A c.158C>T c.(157-159)tCt>tTt p.S53F COAD 1 43851662 43851662 + Missense_Mutation SNP C C A TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr1:43851662C>A c.729G>T c.(727-729)caG>caT p.Q243H COAD 1 43851779 43851779 + Missense_Mutation SNP C C A TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr1:43851779C>A c.612G>T c.(610-612)caG>caT p.Q204H COAD 1 43852552 43852552 + Missense_Mutation SNP G G A TCGA-AA-3696-01A-01W-0900-09 TCGA-AA-3696-10A-01W-0900-09 g.chr1:43852552G>A c.388C>T c.(388-390)Cgc>Tgc p.R130C COAD 1 43852603 43852603 + Missense_Mutation SNP G G A TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr1:43852603G>A c.337C>T c.(337-339)Cct>Tct p.P113S COAD 1 43852634 43852634 + Silent SNP A A G TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr1:43852634A>G c.306T>C c.(304-306)caT>caC p.H102H COADREAD 1 43851662 43851662 + Missense_Mutation SNP C C A TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr1:43851662C>A c.729G>T c.(727-729)caG>caT p.Q243H COADREAD 1 43851779 43851779 + Missense_Mutation SNP C C A TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr1:43851779C>A c.612G>T c.(610-612)caG>caT p.Q204H COADREAD 1 43852552 43852552 + Missense_Mutation SNP G G A TCGA-AA-3696-01A-01W-0900-09 TCGA-AA-3696-10A-01W-0900-09 g.chr1:43852552G>A c.388C>T c.(388-390)Cgc>Tgc p.R130C COADREAD 1 43852603 43852603 + Missense_Mutation SNP G G A TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr1:43852603G>A c.337C>T c.(337-339)Cct>Tct p.P113S COADREAD 1 43852634 43852634 + Silent SNP A A G TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr1:43852634A>G c.306T>C c.(304-306)caT>caC p.H102H GBMLGG 1 43850142 43850143 + 3'UTR INS - - T TCGA-S9-A6TX-01A-21D-A32B-08 TCGA-S9-A6TX-10A-01D-A329-08 g.chr1:43850142_43850143insT HNSC 1 43853231 43853231 + Silent SNP G G A TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr1:43853231G>A c.213C>T c.(211-213)ttC>ttT p.F71F KICH 1 43850194 43850194 + 3'UTR SNP A A G TCGA-KN-8426-01A-11D-2310-10 TCGA-KN-8426-11A-01D-2311-10 g.chr1:43850194A>G KICH 1 43852260 43852260 + Splice_Site SNP C C T TCGA-KN-8435-01A-11D-2310-10 TCGA-KN-8435-11A-01D-2311-10 g.chr1:43852260C>T c.493G>A c.(493-495)Ggt>Agt p.G165S KIPAN 1 43850194 43850194 + 3'UTR SNP A A G TCGA-KN-8426-01A-11D-2310-10 TCGA-KN-8426-11A-01D-2311-10 g.chr1:43850194A>G KIPAN 1 43852260 43852260 + Splice_Site SNP C C T TCGA-KN-8435-01A-11D-2310-10 TCGA-KN-8435-11A-01D-2311-10 g.chr1:43852260C>T c.493G>A c.(493-495)Ggt>Agt p.G165S LGG 1 43850142 43850143 + 3'UTR INS - - T TCGA-S9-A6TX-01A-21D-A32B-08 TCGA-S9-A6TX-10A-01D-A329-08 g.chr1:43850142_43850143insT LUAD 1 43851674 43851674 + Silent SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 g.chr1:43851674T>C c.717A>G c.(715-717)gtA>gtG p.V239V LUAD 1 43853255 43853255 + Missense_Mutation SNP C C G TCGA-17-Z045-01A-01W-0746-08 TCGA-17-Z045-11A-01W-0747-08 g.chr1:43853255C>G c.189G>C c.(187-189)ttG>ttC p.L63F PAAD 1 43853238 43853238 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:43853238G>A c.206C>T c.(205-207)cCg>cTg p.P69L PRAD 1 43852653 43852653 + Missense_Mutation SNP C C T TCGA-HC-7748-01A-11D-2114-08 TCGA-HC-7748-10A-01D-2115-08 g.chr1:43852653C>T c.287G>A c.(286-288)cGg>cAg p.R96Q SKCM 1 43850172 43850172 + 3'UTR SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 g.chr1:43850172C>T SKCM 1 43852618 43852618 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 g.chr1:43852618G>A c.322C>T c.(322-324)Cat>Tat p.H108Y SKCM 1 43853204 43853204 + Silent SNP C C G TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 g.chr1:43853204C>G c.240G>C c.(238-240)gtG>gtC p.V80V SKCM 1 43854021 43854021 + Missense_Mutation SNP A A C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr1:43854021A>C c.85T>G c.(85-87)Ttc>Gtc p.F29V

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 1 43845512 43845512 single base substitution G C downstream_gene_variant BRCA-EU 1 43846256 43846256 single base substitution C G downstream_gene_variant BRCA-EU 1 43848579 43848579 single base substitution C G downstream_gene_variant BRCA-EU 1 43849475 43849491 multiple base substitution (>=2bp and <=200bp) CTTTTTTATGGAGAACA CAAATT downstream_gene_variant BRCA-EU 1 43849690 43849690 single base substitution G A 3_prime_UTR_variant BRCA-EU 1 43849690 43849690 single base substitution G A downstream_gene_variant BRCA-EU 1 43850205 43850205 single base substitution G C 3_prime_UTR_variant BRCA-EU 1 43850205 43850205 single base substitution G C downstream_gene_variant BRCA-EU 1 43850205 43850205 single base substitution G C missense_variant F274L 822C>G BRCA-EU 1 43850213 43850213 single base substitution G C 3_prime_UTR_variant BRCA-EU 1 43850213 43850213 single base substitution G C downstream_gene_variant BRCA-EU 1 43850213 43850213 single base substitution G C missense_variant L272V 814C>G BRCA-EU 1 43850696 43850696 single base substitution G A 3_prime_UTR_variant BRCA-EU 1 43850696 43850696 single base substitution G A downstream_gene_variant BRCA-EU 1 43850696 43850696 single base substitution G A intron_variant BRCA-EU 1 43852504 43852504 single base substitution C T intron_variant BRCA-EU 1 43852901 43852901 single base substitution C A intron_variant BRCA-EU 1 43852901 43852901 single base substitution C A upstream_gene_variant BRCA-EU 1 43853708 43853708 single base substitution A G intron_variant BRCA-EU 1 43853708 43853708 single base substitution A G upstream_gene_variant BRCA-EU 1 43853976 43853976 single base substitution C G splice_region_variant BRCA-EU 1 43853976 43853976 single base substitution C G upstream_gene_variant BRCA-EU 1 43854100 43854100 single base substitution C T 5_prime_UTR_variant BRCA-EU 1 43854100 43854100 single base substitution C T splice_acceptor_variant BRCA-EU 1 43854100 43854100 single base substitution C T upstream_gene_variant BRCA-EU 1 43854455 43854459 deletion of <=200bp AGCAC - intron_variant BRCA-EU 1 43854455 43854459 deletion of <=200bp AGCAC - upstream_gene_variant BRCA-EU 1 43854692 43854692 single base substitution C T intron_variant BRCA-EU 1 43854692 43854692 single base substitution C T upstream_gene_variant BRCA-EU 1 43854812 43854812 single base substitution G A intron_variant BRCA-EU 1 43854812 43854812 single base substitution G A upstream_gene_variant BRCA-EU 1 43855704 43855704 single base substitution C T upstream_gene_variant BRCA-EU 1 43856160 43856160 single base substitution A G upstream_gene_variant BRCA-EU 1 43856656 43856656 deletion of <=200bp T - upstream_gene_variant BRCA-EU 1 43858748 43858748 single base substitution G C upstream_gene_variant BRCA-EU 1 43860152 43860152 single base substitution C T upstream_gene_variant BRCA-EU 1 43860258 43860258 single base substitution A G upstream_gene_variant BRCA-FR 1 43850205 43850205 single base substitution G C 3_prime_UTR_variant BRCA-FR 1 43850205 43850205 single base substitution G C downstream_gene_variant BRCA-FR 1 43850205 43850205 single base substitution G C missense_variant F274L 822C>G BRCA-FR 1 43850696 43850696 single base substitution G A 3_prime_UTR_variant BRCA-FR 1 43850696 43850696 single base substitution G A downstream_gene_variant BRCA-FR 1 43850696 43850696 single base substitution G A intron_variant BRCA-FR 1 43853763 43853763 single base substitution G C intron_variant BRCA-FR 1 43853763 43853763 single base substitution G C upstream_gene_variant BRCA-FR 1 43853976 43853976 single base substitution C G splice_region_variant BRCA-FR 1 43853976 43853976 single base substitution C G upstream_gene_variant BRCA-FR 1 43854100 43854100 single base substitution C T 5_prime_UTR_variant BRCA-FR 1 43854100 43854100 single base substitution C T splice_acceptor_variant BRCA-FR 1 43854100 43854100 single base substitution C T upstream_gene_variant BRCA-FR 1 43854692 43854692 single base substitution C T intron_variant BRCA-FR 1 43854692 43854692 single base substitution C T upstream_gene_variant BRCA-US 1 43850137 43850137 single base substitution T G 3_prime_UTR_variant BRCA-US 1 43850137 43850137 single base substitution T G downstream_gene_variant BRCA-US 1 43850137 43850137 single base substitution T G missense_variant H297P 890A>C BRCA-US 1 43852271 43852271 single base substitution G C exon_variant BRCA-US 1 43852271 43852271 single base substitution G C stop_gained S161* 482C>G BRCA-US 1 43852271 43852271 single base substitution G C stop_gained S72* 215C>G BRCA-US 1 43852650 43852650 single base substitution A C exon_variant BRCA-US 1 43852650 43852650 single base substitution A C missense_variant V8G 23T>G BRCA-US 1 43852650 43852650 single base substitution A C missense_variant V97G 290T>G BRCA-US 1 43852650 43852650 single base substitution A C upstream_gene_variant BTCA-JP 1 43850143 43850143 deletion of <=200bp T - 3_prime_UTR_variant BTCA-JP 1 43850143 43850143 deletion of <=200bp T - downstream_gene_variant BTCA-JP 1 43850143 43850143 deletion of <=200bp T - frameshift_variant N295 CESC-US 1 43853286 43853286 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant CESC-US 1 43853286 43853286 single base substitution G A exon_variant CESC-US 1 43853286 43853286 single base substitution G A missense_variant S53F 158C>T CESC-US 1 43853286 43853286 single base substitution G A upstream_gene_variant COAD-US 1 43851662 43851662 single base substitution C A exon_variant COAD-US 1 43851662 43851662 single base substitution C A missense_variant Q154H 462G>T COAD-US 1 43851662 43851662 single base substitution C A missense_variant Q243H 729G>T COAD-US 1 43852634 43852634 single base substitution A G exon_variant COAD-US 1 43852634 43852634 single base substitution A G synonymous_variant H102H 306T>C COAD-US 1 43852634 43852634 single base substitution A G synonymous_variant H13H 39T>C COAD-US 1 43852634 43852634 single base substitution A G upstream_gene_variant COCA-CN 1 43850788 43850790 deletion of <=200bp CAT - downstream_gene_variant COCA-CN 1 43850788 43850790 deletion of <=200bp CAT - intron_variant COCA-CN 1 43853176 43853176 single base substitution T C missense_variant M90V 268A>G COCA-CN 1 43853176 43853176 single base substitution T C splice_region_variant COCA-CN 1 43853176 43853176 single base substitution T C start_lost M1V 1A>G COCA-CN 1 43853176 43853176 single base substitution T C upstream_gene_variant COCA-CN 1 43853220 43853220 single base substitution A G 5_prime_UTR_variant COCA-CN 1 43853220 43853220 single base substitution A G exon_variant COCA-CN 1 43853220 43853220 single base substitution A G missense_variant V75A 224T>C COCA-CN 1 43853220 43853220 single base substitution A G upstream_gene_variant ESAD-UK 1 43848166 43848166 deletion of <=200bp A - downstream_gene_variant ESAD-UK 1 43851261 43851261 single base substitution C T downstream_gene_variant ESAD-UK 1 43851261 43851261 single base substitution C T intron_variant ESAD-UK 1 43852879 43852879 single base substitution C A intron_variant ESAD-UK 1 43852879 43852879 single base substitution C A upstream_gene_variant ESAD-UK 1 43855439 43855439 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 1 43855439 43855439 single base substitution G A upstream_gene_variant ESAD-UK 1 43855475 43855475 single base substitution T G 5_prime_UTR_variant ESAD-UK 1 43855475 43855475 single base substitution T G upstream_gene_variant ESAD-UK 1 43856751 43856751 single base substitution C T upstream_gene_variant ESAD-UK 1 43858166 43858166 single base substitution A T upstream_gene_variant LAML-KR 1 43844802 43844802 single base substitution A G downstream_gene_variant LINC-JP 1 43846527 43846527 single base substitution A G downstream_gene_variant LINC-JP 1 43852012 43852012 single base substitution G T exon_variant LINC-JP 1 43852012 43852012 single base substitution G T intron_variant LINC-JP 1 43854948 43854948 single base substitution C T intron_variant LINC-JP 1 43854948 43854948 single base substitution C T upstream_gene_variant LINC-JP 1 43855637 43855637 single base substitution G T upstream_gene_variant LIRI-JP 1 43846578 43846578 single base substitution G C downstream_gene_variant LIRI-JP 1 43850769 43850769 single base substitution G A downstream_gene_variant LIRI-JP 1 43850769 43850769 single base substitution G A missense_variant P162S 484C>T LIRI-JP 1 43850769 43850769 single base substitution G A missense_variant P251S 751C>T LIRI-JP 1 43851990 43851990 single base substitution G C exon_variant LIRI-JP 1 43851990 43851990 single base substitution G C intron_variant LIRI-JP 1 43852964 43852964 single base substitution T C intron_variant LIRI-JP 1 43852964 43852964 single base substitution T C upstream_gene_variant LIRI-JP 1 43853239 43853239 single base substitution G C 5_prime_UTR_variant LIRI-JP 1 43853239 43853239 single base substitution G C exon_variant LIRI-JP 1 43853239 43853239 single base substitution G C missense_variant P69A 205C>G LIRI-JP 1 43853239 43853239 single base substitution G C upstream_gene_variant LIRI-JP 1 43856437 43856437 single base substitution T C upstream_gene_variant LIRI-JP 1 43860399 43860399 single base substitution A G upstream_gene_variant LUSC-KR 1 43844623 43844623 single base substitution G A downstream_gene_variant LUSC-KR 1 43844624 43844624 single base substitution G A downstream_gene_variant LUSC-KR 1 43845654 43845654 single base substitution A C downstream_gene_variant LUSC-KR 1 43845869 43845869 single base substitution G C downstream_gene_variant LUSC-KR 1 43846249 43846249 single base substitution G A downstream_gene_variant LUSC-KR 1 43846907 43846907 single base substitution G C downstream_gene_variant LUSC-KR 1 43847428 43847428 single base substitution G C downstream_gene_variant LUSC-KR 1 43847638 43847638 single base substitution G A downstream_gene_variant LUSC-KR 1 43849913 43849913 single base substitution C T 3_prime_UTR_variant LUSC-KR 1 43849913 43849913 single base substitution C T downstream_gene_variant LUSC-KR 1 43853433 43853433 single base substitution T C intron_variant LUSC-KR 1 43853433 43853433 single base substitution T C upstream_gene_variant LUSC-KR 1 43855578 43855578 single base substitution G C upstream_gene_variant LUSC-KR 1 43855623 43855623 single base substitution C T upstream_gene_variant MELA-AU 1 43845202 43845202 single base substitution T C downstream_gene_variant MELA-AU 1 43845244 43845244 single base substitution C T downstream_gene_variant MELA-AU 1 43845259 43845259 single base substitution C T downstream_gene_variant MELA-AU 1 43845479 43845479 single base substitution C T downstream_gene_variant MELA-AU 1 43845597 43845597 single base substitution G A downstream_gene_variant MELA-AU 1 43845897 43845897 single base substitution G A downstream_gene_variant MELA-AU 1 43846429 43846429 single base substitution G A downstream_gene_variant MELA-AU 1 43847221 43847222 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 43848317 43848317 single base substitution G A downstream_gene_variant MELA-AU 1 43848502 43848502 single base substitution A C downstream_gene_variant MELA-AU 1 43848815 43848815 single base substitution G A downstream_gene_variant MELA-AU 1 43849703 43849703 single base substitution C T 3_prime_UTR_variant MELA-AU 1 43849703 43849703 single base substitution C T downstream_gene_variant MELA-AU 1 43850008 43850008 single base substitution G A 3_prime_UTR_variant MELA-AU 1 43850008 43850008 single base substitution G A downstream_gene_variant MELA-AU 1 43850345 43850345 single base substitution A T 3_prime_UTR_variant MELA-AU 1 43850345 43850345 single base substitution A T downstream_gene_variant MELA-AU 1 43850345 43850345 single base substitution A T intron_variant MELA-AU 1 43850544 43850544 single base substitution G A 3_prime_UTR_variant MELA-AU 1 43850544 43850544 single base substitution G A downstream_gene_variant MELA-AU 1 43850544 43850544 single base substitution G A intron_variant MELA-AU 1 43851706 43851706 single base substitution G A exon_variant MELA-AU 1 43851706 43851706 single base substitution G A missense_variant P140S 418C>T MELA-AU 1 43851706 43851706 single base substitution G A missense_variant P229S 685C>T MELA-AU 1 43852781 43852781 single base substitution C G intron_variant MELA-AU 1 43852781 43852781 single base substitution C G upstream_gene_variant MELA-AU 1 43853068 43853069 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 43853068 43853069 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 43853191 43853192 multiple base substitution (>=2bp and <=200bp) GG TA 5_prime_UTR_variant MELA-AU 1 43853191 43853192 multiple base substitution (>=2bp and <=200bp) GG TA exon_variant MELA-AU 1 43853191 43853192 multiple base substitution (>=2bp and <=200bp) GG TA synonymous_variant DR84 MELA-AU 1 43853191 43853192 multiple base substitution (>=2bp and <=200bp) GG TA upstream_gene_variant MELA-AU 1 43853457 43853457 single base substitution G A intron_variant MELA-AU 1 43853457 43853457 single base substitution G A upstream_gene_variant MELA-AU 1 43854155 43854155 single base substitution G T 5_prime_UTR_variant MELA-AU 1 43854155 43854155 single base substitution G T intron_variant MELA-AU 1 43854155 43854155 single base substitution G T upstream_gene_variant MELA-AU 1 43854174 43854174 single base substitution G A intron_variant MELA-AU 1 43854174 43854174 single base substitution G A upstream_gene_variant MELA-AU 1 43855356 43855356 single base substitution C A intron_variant MELA-AU 1 43855356 43855356 single base substitution C A upstream_gene_variant MELA-AU 1 43855470 43855470 single base substitution C T 5_prime_UTR_variant MELA-AU 1 43855470 43855470 single base substitution C T upstream_gene_variant MELA-AU 1 43855478 43855478 single base substitution C T 5_prime_UTR_variant MELA-AU 1 43855478 43855478 single base substitution C T upstream_gene_variant MELA-AU 1 43855520 43855520 single base substitution G A upstream_gene_variant MELA-AU 1 43855528 43855528 single base substitution G A upstream_gene_variant MELA-AU 1 43855536 43855536 single base substitution C T upstream_gene_variant MELA-AU 1 43855540 43855540 single base substitution C T upstream_gene_variant MELA-AU 1 43855541 43855541 single base substitution C T upstream_gene_variant MELA-AU 1 43855551 43855551 single base substitution C T upstream_gene_variant MELA-AU 1 43855552 43855552 single base substitution C T upstream_gene_variant MELA-AU 1 43855557 43855557 single base substitution C T upstream_gene_variant MELA-AU 1 43855558 43855558 single base substitution C T upstream_gene_variant MELA-AU 1 43856261 43856261 single base substitution A C upstream_gene_variant MELA-AU 1 43856853 43856853 single base substitution C T upstream_gene_variant MELA-AU 1 43856980 43856980 single base substitution C T upstream_gene_variant MELA-AU 1 43857147 43857147 single base substitution G A upstream_gene_variant MELA-AU 1 43857880 43857880 single base substitution C T upstream_gene_variant MELA-AU 1 43858177 43858177 single base substitution C T upstream_gene_variant ORCA-IN 1 43852577 43852577 single base substitution C T exon_variant ORCA-IN 1 43852577 43852577 single base substitution C T synonymous_variant E121E 363G>A ORCA-IN 1 43852577 43852577 single base substitution C T synonymous_variant E32E 96G>A OV-AU 1 43859671 43859671 single base substitution G A upstream_gene_variant OV-AU 1 43860029 43860029 single base substitution G C upstream_gene_variant PACA-AU 1 43852231 43852232 deletion of <=200bp TC - exon_variant PACA-AU 1 43852231 43852232 deletion of <=200bp TC - intron_variant PACA-AU 1 43852336 43852336 single base substitution C T exon_variant PACA-AU 1 43852336 43852336 single base substitution C T synonymous_variant Q139Q 417G>A PACA-AU 1 43852336 43852336 single base substitution C T synonymous_variant Q50Q 150G>A PACA-CA 1 43847235 43847235 single base substitution T C downstream_gene_variant PACA-CA 1 43852668 43852668 single base substitution C T missense_variant R2Q 5G>A PACA-CA 1 43852668 43852668 single base substitution C T missense_variant R91Q 272G>A PACA-CA 1 43852668 43852668 single base substitution C T splice_region_variant PACA-CA 1 43852668 43852668 single base substitution C T upstream_gene_variant PACA-CA 1 43853802 43853802 single base substitution C T intron_variant PACA-CA 1 43853802 43853802 single base substitution C T upstream_gene_variant PACA-CA 1 43855932 43855932 single base substitution T G upstream_gene_variant PAEN-AU 1 43859522 43859522 deletion of <=200bp A - upstream_gene_variant PAEN-IT 1 43859701 43859701 single base substitution C T upstream_gene_variant PBCA-DE 1 43852347 43852347 single base substitution A G intron_variant PBCA-DE 1 43852347 43852347 single base substitution A G splice_region_variant PBCA-DE 1 43854947 43854947 single base substitution C T intron_variant PBCA-DE 1 43854947 43854947 single base substitution C T upstream_gene_variant PRAD-CA 1 43852192 43852192 single base substitution A C exon_variant PRAD-CA 1 43852192 43852192 single base substitution A C intron_variant PRAD-CA 1 43852332 43852332 single base substitution G A exon_variant PRAD-CA 1 43852332 43852332 single base substitution G A stop_gained Q141* 421C>T PRAD-CA 1 43852332 43852332 single base substitution G A stop_gained Q52* 154C>T PRAD-UK 1 43846907 43846907 single base substitution G A downstream_gene_variant PRAD-US 1 43852653 43852653 single base substitution C T exon_variant PRAD-US 1 43852653 43852653 single base substitution C T missense_variant R7Q 20G>A PRAD-US 1 43852653 43852653 single base substitution C T missense_variant R96Q 287G>A PRAD-US 1 43852653 43852653 single base substitution C T upstream_gene_variant READ-US 1 43851887 43851887 single base substitution C T exon_variant READ-US 1 43851887 43851887 single base substitution C T synonymous_variant P168P 504G>A READ-US 1 43851887 43851887 single base substitution C T synonymous_variant P79P 237G>A RECA-EU 1 43856564 43856564 single base substitution C A upstream_gene_variant SKCA-BR 1 43846643 43846644 deletion of <=200bp CA - downstream_gene_variant SKCA-BR 1 43855551 43855551 single base substitution C T upstream_gene_variant SKCA-BR 1 43855615 43855615 single base substitution C A upstream_gene_variant SKCA-BR 1 43860375 43860375 single base substitution C A upstream_gene_variant SKCM-US 1 43850172 43850172 single base substitution C T 3_prime_UTR_variant SKCM-US 1 43850172 43850172 single base substitution C T downstream_gene_variant SKCM-US 1 43850172 43850172 single base substitution C T synonymous_variant K285K 855G>A SKCM-US 1 43852618 43852618 single base substitution G A exon_variant SKCM-US 1 43852618 43852618 single base substitution G A missense_variant H108Y 322C>T SKCM-US 1 43852618 43852618 single base substitution G A missense_variant H19Y 55C>T SKCM-US 1 43852618 43852618 single base substitution G A upstream_gene_variant SKCM-US 1 43853204 43853204 single base substitution C G 5_prime_UTR_variant SKCM-US 1 43853204 43853204 single base substitution C G exon_variant SKCM-US 1 43853204 43853204 single base substitution C G synonymous_variant V80V 240G>C SKCM-US 1 43853204 43853204 single base substitution C G upstream_gene_variant SKCM-US 1 43854021 43854021 single base substitution A C 5_prime_UTR_variant SKCM-US 1 43854021 43854021 single base substitution A C missense_variant F29V 85T>G SKCM-US 1 43854021 43854021 single base substitution A C upstream_gene_variant SKCM-US 1 43855557 43855557 single base substitution C T upstream_gene_variant STAD-US 1 43851858 43851858 single base substitution G A exon_variant STAD-US 1 43851858 43851858 single base substitution G A missense_variant T178I 533C>T STAD-US 1 43851858 43851858 single base substitution G A missense_variant T89I 266C>T STAD-US 1 43851888 43851888 single base substitution G A exon_variant STAD-US 1 43851888 43851888 single base substitution G A missense_variant P168L 503C>T STAD-US 1 43851888 43851888 single base substitution G A missense_variant P79L 236C>T THCA-SA 1 43849917 43849917 single base substitution A G 3_prime_UTR_variant THCA-SA 1 43849917 43849917 single base substitution A G downstream_gene_variant UCEC-US 1 43851783 43851783 single base substitution C A exon_variant UCEC-US 1 43851783 43851783 single base substitution C A missense_variant G114V 341G>T UCEC-US 1 43851783 43851783 single base substitution C A missense_variant G203V 608G>T UCEC-US 1 43851840 43851840 single base substitution G A exon_variant UCEC-US 1 43851840 43851840 single base substitution G A missense_variant A184V 551C>T UCEC-US 1 43851840 43851840 single base substitution G A missense_variant A95V 284C>T UCEC-US 1 43852669 43852669 single base substitution G A missense_variant R2W 4C>T UCEC-US 1 43852669 43852669 single base substitution G A missense_variant R91W 271C>T UCEC-US 1 43852669 43852669 single base substitution G A splice_region_variant UCEC-US 1 43852669 43852669 single base substitution G A upstream_gene_variant UCEC-US 1 43853172 43853172 single base substitution A G splice_donor_variant UCEC-US 1 43853172 43853172 single base substitution A G upstream_gene_variant UCEC-US 1 43853233 43853233 single base substitution A G 5_prime_UTR_variant UCEC-US 1 43853233 43853233 single base substitution A G exon_variant UCEC-US 1 43853233 43853233 single base substitution A G missense_variant F71L 211T>C UCEC-US 1 43853233 43853233 single base substitution A G upstream_gene_variant UCEC-US 1 43853258 43853258 single base substitution G A 5_prime_UTR_variant UCEC-US 1 43853258 43853258 single base substitution G A exon_variant UCEC-US 1 43853258 43853258 single base substitution G A synonymous_variant V62V 186C>T UCEC-US 1 43853258 43853258 single base substitution G A upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand DN110CD COSM5798377 c.7-1G>A p.? Unknown 1:43388429-43388429 - TCGA-EA-A6QX-01 COSM4828717 c.158C>T p.S53F Substitution - Missense 1:43387615-43387615 - PT48 COSM5930608 c.494-6C>T p.? Unknown 1:43386232-43386232 - 855_CLM COSM5754454 c.875G>A p.G292E Substitution - Missense 1:43384481-43384481 - BD57T COSM1342803 c.617delA p.N206fs*>7 Deletion - Frameshift 1:43384472-43384472 - TCGA-AA-3696-01 COSM293468 c.388C>T p.R130C Substitution - Missense 1:43386881-43386881 - TCGA-FS-A1ZK-06 COSM3489896 c.588G>A p.K196K Substitution - coding silent 1:43384501-43384501 - TCGA-CM-6680-01 COSM1342802 c.884delA p.N295fs*>7 Deletion - Frameshift 1:43384472-43384472 - OSCC-GB_00070111 COSM3711556 c.363G>A p.E121E Substitution - coding silent 1:43386906-43386906 - TCGA-HC-7748-01 COSM3671769 c.20G>A p.R7Q Substitution - Missense 1:43386982-43386982 - TCGA-AP-A059-01 COSM909766 c.608G>T p.G203V Substitution - Missense 1:43386112-43386112 - 855_CLM COSM5754455 c.608G>A p.G203E Substitution - Missense 1:43384481-43384481 - TCGA-BR-6456-01 COSM4008176 c.533C>T p.T178I Substitution - Missense 1:43386187-43386187 - 8014964 COSM3386179 c.150G>A p.Q50Q Substitution - coding silent 1:43386665-43386665 - TCGA-B5-A11E-01 COSM909770 c.271C>T p.R91W Substitution - Missense 1:43386998-43386998 - CPCG0238-F1 COSM4880695 c.421C>T p.Q141* Substitution - Nonsense 1:43386661-43386661 - TCGA-B5-A11E-01 COSM909769 c.284C>T p.A95V Substitution - Missense 1:43386169-43386169 - TCGA-HU-A4GU-01 COSM4008179 c.236C>T p.P79L Substitution - Missense 1:43386217-43386217 - 7T COSM3711557 c.96G>A p.E32E Substitution - coding silent 1:43386906-43386906 - T21 COSM5342452 c.458C>T p.A153V Substitution - Missense 1:43385995-43385995 - ATL046 COSM5705459 c.865G>C p.G289R Substitution - Missense 1:43384491-43384491 - TCGA-EI-6917-01 COSM3419247 c.237G>A p.P79P Substitution - coding silent 1:43386216-43386216 - TCGA-A2-A0T5-01 COSM3805291 c.623A>C p.H208P Substitution - Missense 1:43384466-43384466 - MedB-1 COSM5621246 c.499A>G p.T167A Substitution - Missense 1:43385083-43385083 - OSCC-GB_00070111 COSM3711557 c.96G>A p.E32E Substitution - coding silent 1:43386906-43386906 - pfg043T COSM4753976 c.509A>C p.K170T Substitution - Missense 1:43385073-43385073 - PCSI_0083_Pa_P COSM3377188 c.272G>A p.R91Q Substitution - Missense 1:43386997-43386997 - T21 COSM5342451 c.725C>T p.A242V Substitution - Missense 1:43385995-43385995 - TCGA-AD-6964-01 COSM1342804 c.729G>T p.Q243H Substitution - Missense 1:43385991-43385991 - H1155 COSM909770 c.271C>T p.R91W Substitution - Missense 1:43386998-43386998 - TCGA-QG-A5Z2-01 COSM1342802 c.884delA p.N295fs*>7 Deletion - Frameshift 1:43384472-43384472 - 2492700 COSM5715668 c.213C>T p.F71F Substitution - coding silent 1:43387560-43387560 - LAU165 COSM232778 c.247C>T p.P83S Substitution - Missense 1:43387526-43387526 - BD124T COSM1342803 c.617delA p.N206fs*>7 Deletion - Frameshift 1:43384472-43384472 - BD57T COSM1342802 c.884delA p.N295fs*>7 Deletion - Frameshift 1:43384472-43384472 - TCGA-BS-A0UF-01 COSM909774 c.211T>C p.F71L Substitution - Missense 1:43387562-43387562 - TCGA-D1-A17U-01 COSM909773 c.3+2T>C p.? Unknown 1:43387501-43387501 - 2492703 COSM5715668 c.213C>T p.F71F Substitution - coding silent 1:43387560-43387560 - SNU-C4 COSM4652491 c.104A>T p.N35I Substitution - Missense 1:43388331-43388331 - ATL046 COSM5705460 c.598G>C p.G200R Substitution - Missense 1:43384491-43384491 - I2L-P10-Tumor-Organoid COSM5352685 c.613A>C p.K205Q Substitution - Missense 1:43384476-43384476 - TCGA-D1-A17U-01 COSM909772 c.270+2T>C p.? Unknown 1:43387501-43387501 - 587234 COSM1214866 c.577C>T p.R193C Substitution - Missense 1:43384512-43384512 - PCSI_0083_Pa_X COSM3377189 c.5G>A p.R2Q Substitution - Missense 1:43386997-43386997 - PD13162a COSM5779928 c.125+5G>C p.? Unknown 1:43388305-43388305 - 8014964 COSM3386178 c.417G>A p.Q139Q Substitution - coding silent 1:43386665-43386665 - DN110CD COSM5779928 c.125+5G>C p.? Unknown 1:43388305-43388305 - WA35 COSM240640 c.224_229delTCATCA p.I76_I77delII Deletion - In frame 1:43387544-43387549 - MO_1013 COSM5555170 c.866G>T p.G289V Substitution - Missense 1:43384490-43384490 - sysucc-880T COSM5462383 c.1A>G p.M1V Substitution - Missense 1:43387505-43387505 - T3174 COSM4701572 c.636G>A p.T212T Substitution - coding silent 1:43386084-43386084 - RK308_C01 COSM3741288 c.751C>T p.P251S Substitution - Missense 1:43385098-43385098 - TCGA-B5-A11E-01 COSM909771 c.4C>T p.R2W Substitution - Missense 1:43386998-43386998 - RK219_C01 COSM3741290 c.205C>G p.P69A Substitution - Missense 1:43387568-43387568 - S00841 COSM5661783 c.398A>T p.Q133L Substitution - Missense 1:43386055-43386055 - TCGA-HC-7748-01 COSM3671768 c.287G>A p.R96Q Substitution - Missense 1:43386982-43386982 - TCGA-AA-3966-01 COSM272940 c.70C>T p.P24S Substitution - Missense 1:43386932-43386932 - TCGA-B5-A11E-01 COSM909768 c.551C>T p.A184V Substitution - Missense 1:43386169-43386169 - TCGA-AA-3679-01 COSM5103081 c.884_885insA p.N295fs*>8 Insertion - Frameshift 1:43384471-43384472 - TCGA-D8-A13Y-01 COSM426301 c.215C>G p.S72* Substitution - Nonsense 1:43386600-43386600 - TCGA-AA-3672-01 COSM1342802 c.884delA p.N295fs*>7 Deletion - Frameshift 1:43384472-43384472 - SJDES007-R1 COSM4577361 c.57T>G p.H19Q Substitution - Missense 1:43386945-43386945 - TCGA-GF-A3OT-06 COSM3489899 c.240G>C p.V80V Substitution - coding silent 1:43387533-43387533 - pfg181T COSM4008178 c.503C>T p.P168L Substitution - Missense 1:43386217-43386217 - TCGA-D1-A101-01 COSM909765 c.520A>G p.M174V Substitution - Missense 1:43385062-43385062 - TCGA-BR-6456-01 COSM4008177 c.266C>T p.T89I Substitution - Missense 1:43386187-43386187 - PCSI_0083_Pa_P COSM3377189 c.5G>A p.R2Q Substitution - Missense 1:43386997-43386997 - TCGA-G4-6304-01 COSM1342807 c.39T>C p.H13H Substitution - coding silent 1:43386963-43386963 - pfg181T COSM4753980 c.355C>G p.P119A Substitution - Missense 1:43386098-43386098 - TCGA-AP-A0LM-01 COSM909775 c.186C>T p.V62V Substitution - coding silent 1:43387587-43387587 - BD124T COSM1342802 c.884delA p.N295fs*>7 Deletion - Frameshift 1:43384472-43384472 - TCGA-A6-2681-01 COSM5082650 c.693G>T p.Q231H Substitution - Missense 1:43386027-43386027 - TCGA-AP-A059-01 COSM909767 c.341G>T p.G114V Substitution - Missense 1:43386112-43386112 - MedB-1 COSM5621245 c.766A>G p.T256A Substitution - Missense 1:43385083-43385083 - I2L-P7-Tumor-Organoid COSM1342802 c.884delA p.N295fs*>7 Deletion - Frameshift 1:43384472-43384472 - TCGA-D1-A101-01 COSM909764 c.787A>G p.M263V Substitution - Missense 1:43385062-43385062 - PD13162a COSM5798377 c.7-1G>A p.? Unknown 1:43388429-43388429 - TCGA-A8-A0A6-01 COSM3805292 c.290T>G p.V97G Substitution - Missense 1:43386979-43386979 - CHC205T COSM3746968 c.594C>T p.G198G Substitution - coding silent 1:43386126-43386126 - TCGA-D3-A51G-06 COSM3489897 c.322C>T p.H108Y Substitution - Missense 1:43386947-43386947 - YUGURT COSM5381033 c.273C>T p.A91A Substitution - coding silent 1:43386180-43386180 - MO_1013 COSM5555171 c.599G>T p.G200V Substitution - Missense 1:43384490-43384490 - TCGA-AD-6964-01 COSM1342805 c.462G>T p.Q154H Substitution - Missense 1:43385991-43385991 - H1155 COSM909771 c.4C>T p.R2W Substitution - Missense 1:43386998-43386998 - CPCG0238-F1 COSM4880696 c.154C>T p.Q52* Substitution - Nonsense 1:43386661-43386661 - RK308_C01 COSM3741289 c.484C>T p.P162S Substitution - Missense 1:43385098-43385098 - I2L-P10-Tumor-Organoid COSM5352684 c.880A>C p.K294Q Substitution - Missense 1:43384476-43384476 - TCGA-HU-A4GU-01 COSM4008178 c.503C>T p.P168L Substitution - Missense 1:43386217-43386217 - 7T COSM3711556 c.363G>A p.E121E Substitution - coding silent 1:43386906-43386906 - TCGA-A8-A0A6-01 COSM3805293 c.23T>G p.V8G Substitution - Missense 1:43386979-43386979 - TCGA-D8-A13Y-01 COSM426300 c.482C>G p.S161* Substitution - Nonsense 1:43386600-43386600 - pfg181T COSM4753979 c.622C>G p.P208A Substitution - Missense 1:43386098-43386098 - I2L-P7-Tumor-Organoid COSM1342803 c.617delA p.N206fs*>7 Deletion - Frameshift 1:43384472-43384472 - S00841 COSM5661782 c.665A>T p.Q222L Substitution - Missense 1:43386055-43386055 - TCGA-FS-A1ZK-06 COSM3489895 c.855G>A p.K285K Substitution - coding silent 1:43384501-43384501 - Padua002 COSM5094997 c.226G>T p.G76C Substitution - Missense 1:43386589-43386589 - 2_RESISTANT COSM1723156 c.609_610insT p.Q204fs*>99 Insertion - Frameshift 1:43386110-43386111 - HN_62338 COSM121185 c.300A>G p.K100K Substitution - coding silent 1:43386153-43386153 - CSCC-44-T COSM4481028 c.247C>G p.P83A Substitution - Missense 1:43387526-43387526 - TCGA-G4-6304-01 COSM1342806 c.306T>C p.H102H Substitution - coding silent 1:43386963-43386963 - sysucc-880T COSM5462382 c.268A>G p.M90V Substitution - Missense 1:43387505-43387505 - SJDES007-R1 COSM4577360 c.324T>G p.H108Q Substitution - Missense 1:43386945-43386945 - TCGA-EE-A2MR-06 COSM3489900 c.85T>G p.F29V Substitution - Missense 1:43388350-43388350 - 2492702 COSM5715668 c.213C>T p.F71F Substitution - coding silent 1:43387560-43387560 - T3080 COSM4701574 c.271-1G>A p.? Unknown 1:43386999-43386999 - T3174 COSM4701573 c.369G>A p.T123T Substitution - coding silent 1:43386084-43386084 - TCGA-EI-6917-01 COSM3419246 c.504G>A p.P168P Substitution - coding silent 1:43386216-43386216 - TCGA-D3-A51G-06 COSM3489898 c.55C>T p.H19Y Substitution - Missense 1:43386947-43386947 - TCGA-AA-3966-01 COSM272941 c.337C>T p.P113S Substitution - Missense 1:43386932-43386932 - PCSI_0083_Pa_X COSM3377188 c.272G>A p.R91Q Substitution - Missense 1:43386997-43386997 - TCGA-A2-A0T5-01 COSM3805290 c.890A>C p.H297P Substitution - Missense 1:43384466-43384466 - CHC205T COSM3746969 c.327C>T p.G109G Substitution - coding silent 1:43386126-43386126 - TCGA-AY-6197-01 COSM1342802 c.884delA p.N295fs*>7 Deletion - Frameshift 1:43384472-43384472 - 2_RESISTANT COSM1723157 c.342_343insT p.Q115fs*>99 Insertion - Frameshift 1:43386110-43386111 - PT48 COSM5930609 c.227-6C>T p.? Unknown 1:43386232-43386232 - TCGA-AA-3696-01 COSM293467 c.121C>T p.R41C Substitution - Missense 1:43386881-43386881 - T3080 COSM4701575 c.4-1G>A p.? Unknown 1:43386999-43386999 - TCGA-NH-A5IV-01 COSM1342802 c.884delA p.N295fs*>7 Deletion - Frameshift 1:43384472-43384472 - pfg043T COSM4753975 c.776A>C p.K259T Substitution - Missense 1:43385073-43385073 - pfg181T COSM4008179 c.236C>T p.P79L Substitution - Missense 1:43386217-43386217 - 2492701 COSM5715668 c.213C>T p.F71F Substitution - coding silent 1:43387560-43387560 - PD7249a COSM5781940 c.547C>G p.L183V Substitution - Missense 1:43384542-43384542 - YUGURT COSM5381032 c.540C>T p.A180A Substitution - coding silent 1:43386180-43386180 - 587234 COSM1214865 c.844C>T p.R282C Substitution - Missense 1:43384512-43384512 - Padua002 COSM5094996 c.493G>T p.G165C Substitution - Missense 1:43386589-43386589 - PD7249a COSM5781939 c.814C>G p.L272V Substitution - Missense 1:43384542-43384542 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.301756 1p34.2 607956 1516521|dbSNP|BC010019|C/T|non-coding||1118|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G SpliceDonorSNV . c.270+2T>C 1 43853172 UCEC C G Missense p.L63F c.189G>C 1 43853255 LUAD C T 5-UTRSNV . c.1-30G>A 1 43855465 CM C T 5-UTRSNV . c.1-35G>A 1 43855470 CM C T Missense p.R96Q c.287G>A 1 43852653 PRAD C T Synonymous p.K285K c.855G>A 1 43850172 CM G A Missense p.L52F c.154C>T 1 43853290 CM G A Missense p.R130C c.388C>T 1 43852552 COREAD G A Missense p.T178I c.533C>T 1 43851858 CM G A Missense p.T178I c.533C>T 1 43851858 STAD G C Nonsense p.S161* c.482C>G 1 43852271 BRCA T C Synonymous p.K189K c.567A>G 1 43851824 HNSC T - Frameshift p.N295Mfs*75 c.884delA 1 43850143 STAD