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 9 131151578 131151578 + Nonsense_Mutation SNP G G A TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 g.chr9:131151578G>A c.227G>A c.(226-228)tGg>tAg p.W76* BRCA 9 131151719 131151720 + Missense_Mutation DNP GG GG CT TCGA-D8-A1XU-01A-11D-A14K-09 TCGA-D8-A1XU-10A-01D-A14K-09 g.chr9:131151719_131151720GG>CT c.368_369GG>CT c.(367-369)aGG>aCT p.R123T CESC 9 131150142 131150142 + Missense_Mutation SNP G G C TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 g.chr9:131150142G>C c.154G>C c.(154-156)Gag>Cag p.E52Q COAD 9 131150102 131150102 + Missense_Mutation SNP C C A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr9:131150102C>A c.155C>A c.(154-156)tCc>tAc p.S52Y COAD 9 131151567 131151567 + Silent SNP C C T TCGA-AA-3518-01A-02W-0833-10 TCGA-AA-3518-10A-01W-0833-10 g.chr9:131151567C>T c.216C>T c.(214-216)aaC>aaT p.N72N COADREAD 9 131150102 131150102 + Missense_Mutation SNP C C A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr9:131150102C>A c.155C>A c.(154-156)tCc>tAc p.S52Y COADREAD 9 131151567 131151567 + Silent SNP C C T TCGA-AA-3518-01A-02W-0833-10 TCGA-AA-3518-10A-01W-0833-10 g.chr9:131151567C>T c.216C>T c.(214-216)aaC>aaT p.N72N ESCA 9 131133692 131133692 + Silent SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 g.chr9:131133692C>T c.33C>T c.(31-33)ttC>ttT p.F11F HNSC 9 131140339 131140339 + Missense_Mutation SNP C C T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 g.chr9:131140339C>T c.101C>T c.(100-102)aCg>aTg p.T34M KIPAN 9 131151666 131151667 + Frame_Shift_Del DEL GG GG - TCGA-Y8-A894-01A-11D-A35Z-10 TCGA-Y8-A894-10A-01D-A35Z-10 g.chr9:131151666_131151667delGG c.315_316delGG c.(313-318)caggcafs p.QA105fs KIPAN 9 131151698 131151698 + Missense_Mutation SNP C C G TCGA-CZ-5465-01A-01D-1806-10 TCGA-CZ-5465-11A-01D-1501-10 g.chr9:131151698C>G c.347C>G c.(346-348)cCc>cGc p.P116R KIRC 9 131151698 131151698 + Missense_Mutation SNP C C G TCGA-CZ-5465-01A-01D-1806-10 TCGA-CZ-5465-11A-01D-1501-10 g.chr9:131151698C>G c.347C>G c.(346-348)cCc>cGc p.P116R KIRP 9 131151666 131151667 + Frame_Shift_Del DEL GG GG - TCGA-Y8-A894-01A-11D-A35Z-10 TCGA-Y8-A894-10A-01D-A35Z-10 g.chr9:131151666_131151667delGG c.315_316delGG c.(313-318)caggcafs p.QA105fs LIHC 9 131133678 131133678 + Missense_Mutation SNP G G C TCGA-ED-A7PZ-01A-11D-A33Q-10 TCGA-ED-A7PZ-10A-01D-A33Q-10 g.chr9:131133678G>C c.19G>C c.(19-21)Gtg>Ctg p.V7L LIHC 9 131151593 131151593 + Missense_Mutation SNP G G T TCGA-DD-A4NV-01A-11D-A30V-10 TCGA-DD-A4NV-10A-01D-A30V-10 g.chr9:131151593G>T c.242G>T c.(241-243)aGt>aTt p.S81I LIHC 9 131152007 131152007 + Silent SNP C C T TCGA-DD-A73B-01A-12D-A32G-10 TCGA-DD-A73B-10A-01D-A32G-10 g.chr9:131152007C>T c.300C>T c.(298-300)ggC>ggT p.G100G LUSC 9 131151543 131151543 + Silent SNP G G A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 g.chr9:131151543G>A c.192G>A c.(190-192)cgG>cgA p.R64R PCPG 9 131140374 131140374 + Missense_Mutation SNP A A T TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 g.chr9:131140374A>T c.95A>T c.(94-96)cAg>cTg p.Q32L SARC 9 131151745 131151745 + Missense_Mutation SNP G G A TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 g.chr9:131151745G>A c.394G>A c.(394-396)Gag>Aag p.E132K SKCM 9 131151621 131151621 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 g.chr9:131151621C>T c.270C>T c.(268-270)gcC>gcT p.A90A SKCM 9 131151740 131151740 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr9:131151740C>T c.389C>T c.(388-390)cCa>cTa p.P130L

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 9 131128929 131128929 deletion of <=200bp C - upstream_gene_variant BRCA-EU 9 131129206 131129206 single base substitution A G upstream_gene_variant BRCA-EU 9 131129359 131129359 single base substitution G C upstream_gene_variant BRCA-EU 9 131129686 131129686 single base substitution G A upstream_gene_variant BRCA-EU 9 131129799 131129799 single base substitution G A upstream_gene_variant BRCA-EU 9 131130119 131130123 deletion of <=200bp TGTTT - upstream_gene_variant BRCA-EU 9 131130260 131130260 insertion of <=200bp - T upstream_gene_variant BRCA-EU 9 131131742 131131742 insertion of <=200bp - G upstream_gene_variant BRCA-EU 9 131135054 131135054 single base substitution G C intron_variant BRCA-EU 9 131135129 131135129 single base substitution G A intron_variant BRCA-EU 9 131136324 131136324 single base substitution A C intron_variant BRCA-EU 9 131136324 131136324 single base substitution A C upstream_gene_variant BRCA-EU 9 131137665 131137665 single base substitution A G intron_variant BRCA-EU 9 131137665 131137665 single base substitution A G upstream_gene_variant BRCA-EU 9 131137823 131137823 single base substitution T A intron_variant BRCA-EU 9 131137823 131137823 single base substitution T A upstream_gene_variant BRCA-EU 9 131137949 131137949 single base substitution C T intron_variant BRCA-EU 9 131137949 131137949 single base substitution C T upstream_gene_variant BRCA-EU 9 131138172 131138172 single base substitution G T intron_variant BRCA-EU 9 131138172 131138172 single base substitution G T upstream_gene_variant BRCA-EU 9 131139773 131139773 single base substitution G A intron_variant BRCA-EU 9 131139773 131139773 single base substitution G A upstream_gene_variant BRCA-EU 9 131142605 131142605 insertion of <=200bp - G intron_variant BRCA-EU 9 131144405 131144405 single base substitution C G intron_variant BRCA-EU 9 131146435 131146435 single base substitution C G intron_variant BRCA-EU 9 131146443 131146443 single base substitution C A intron_variant BRCA-EU 9 131147310 131147310 single base substitution C T intron_variant BRCA-EU 9 131148155 131148155 insertion of <=200bp - G intron_variant BRCA-EU 9 131149483 131149483 single base substitution G A intron_variant BRCA-EU 9 131151349 131151349 single base substitution G C 3_prime_UTR_variant BRCA-EU 9 131151349 131151349 single base substitution G C downstream_gene_variant BRCA-EU 9 131151349 131151349 single base substitution G C intron_variant BRCA-EU 9 131152379 131152379 single base substitution C A 3_prime_UTR_variant BRCA-EU 9 131152379 131152379 single base substitution C A downstream_gene_variant BRCA-EU 9 131154682 131154682 single base substitution C T downstream_gene_variant BRCA-EU 9 131155254 131155254 single base substitution C G downstream_gene_variant BRCA-EU 9 131156022 131156022 single base substitution G A downstream_gene_variant BRCA-FR 9 131138059 131138059 single base substitution G C intron_variant BRCA-FR 9 131138059 131138059 single base substitution G C upstream_gene_variant BRCA-FR 9 131138172 131138172 single base substitution G T intron_variant BRCA-FR 9 131138172 131138172 single base substitution G T upstream_gene_variant BRCA-FR 9 131139773 131139773 single base substitution G A intron_variant BRCA-FR 9 131139773 131139773 single base substitution G A upstream_gene_variant BRCA-FR 9 131155254 131155254 single base substitution C G downstream_gene_variant BRCA-US 9 131151719 131151719 single base substitution G C 3_prime_UTR_variant BRCA-US 9 131151719 131151719 single base substitution G C downstream_gene_variant BRCA-US 9 131151719 131151719 single base substitution G C exon_variant BRCA-US 9 131151719 131151719 single base substitution G C intron_variant BRCA-US 9 131151719 131151719 single base substitution G C missense_variant R123T 368G>C BRCA-US 9 131151720 131151720 single base substitution G T 3_prime_UTR_variant BRCA-US 9 131151720 131151720 single base substitution G T downstream_gene_variant BRCA-US 9 131151720 131151720 single base substitution G T exon_variant BRCA-US 9 131151720 131151720 single base substitution G T intron_variant BRCA-US 9 131151720 131151720 single base substitution G T missense_variant R123S 369G>T CESC-US 9 131150142 131150142 single base substitution G C 3_prime_UTR_variant CESC-US 9 131150142 131150142 single base substitution G C exon_variant CESC-US 9 131150142 131150142 single base substitution G C missense_variant E52Q 154G>C CESC-US 9 131151899 131151899 single base substitution G A 3_prime_UTR_variant CESC-US 9 131151899 131151899 single base substitution G A downstream_gene_variant CESC-US 9 131151899 131151899 single base substitution G A exon_variant CESC-US 9 131151899 131151899 single base substitution G A intron_variant CESC-US 9 131151912 131151912 single base substitution G A 3_prime_UTR_variant CESC-US 9 131151912 131151912 single base substitution G A downstream_gene_variant CESC-US 9 131151912 131151912 single base substitution G A exon_variant CESC-US 9 131151912 131151912 single base substitution G A intron_variant CESC-US 9 131154981 131154981 single base substitution G A downstream_gene_variant CLLE-ES 9 131140317 131140331 deletion of <=200bp GTGGTGCGGAGCTCC - exon_variant CLLE-ES 9 131140317 131140331 deletion of <=200bp GTGGTGCGGAGCTCC - inframe_deletion VVRSS27 CLLE-ES 9 131140317 131140331 deletion of <=200bp GTGGTGCGGAGCTCC - splice_region_variant CLLE-ES 9 131140317 131140331 deletion of <=200bp GTGGTGCGGAGCTCC - upstream_gene_variant COAD-US 9 131150102 131150102 single base substitution C A exon_variant COAD-US 9 131150102 131150102 single base substitution C A missense_variant S52Y 155C>A COAD-US 9 131150102 131150102 single base substitution C A synonymous_variant I38I 114C>A COCA-CN 9 131138348 131138348 single base substitution C T intron_variant COCA-CN 9 131138348 131138348 single base substitution C T upstream_gene_variant COCA-CN 9 131140173 131140173 single base substitution T A intron_variant COCA-CN 9 131140173 131140173 single base substitution T A upstream_gene_variant EOPC-DE 9 131155065 131155065 single base substitution C T downstream_gene_variant ESAD-UK 9 131129955 131129955 single base substitution C T upstream_gene_variant ESAD-UK 9 131130040 131130040 single base substitution A G upstream_gene_variant ESAD-UK 9 131134964 131134964 single base substitution C T intron_variant ESAD-UK 9 131139132 131139132 single base substitution C A intron_variant ESAD-UK 9 131139132 131139132 single base substitution C A upstream_gene_variant ESAD-UK 9 131140238 131140238 single base substitution C T intron_variant ESAD-UK 9 131140238 131140238 single base substitution C T upstream_gene_variant ESAD-UK 9 131141851 131141851 single base substitution G T intron_variant ESAD-UK 9 131141860 131141860 single base substitution C T intron_variant ESAD-UK 9 131142501 131142501 single base substitution C T intron_variant ESAD-UK 9 131143336 131143336 single base substitution C G intron_variant ESAD-UK 9 131148509 131148509 single base substitution G A intron_variant ESAD-UK 9 131149148 131149148 single base substitution C T intron_variant ESAD-UK 9 131150183 131150183 single base substitution C T 3_prime_UTR_variant ESAD-UK 9 131150183 131150183 single base substitution C T splice_region_variant ESAD-UK 9 131155929 131155929 single base substitution A G downstream_gene_variant ESAD-UK 9 131156656 131156656 single base substitution G A downstream_gene_variant ESAD-UK 9 131156898 131156898 single base substitution C A downstream_gene_variant KIRC-US 9 131151698 131151698 single base substitution C G 3_prime_UTR_variant KIRC-US 9 131151698 131151698 single base substitution C G downstream_gene_variant KIRC-US 9 131151698 131151698 single base substitution C G exon_variant KIRC-US 9 131151698 131151698 single base substitution C G intron_variant KIRC-US 9 131151698 131151698 single base substitution C G missense_variant P116R 347C>G KIRP-US 9 131151640 131151640 single base substitution G T 3_prime_UTR_variant KIRP-US 9 131151640 131151640 single base substitution G T downstream_gene_variant KIRP-US 9 131151640 131151640 single base substitution G T exon_variant KIRP-US 9 131151640 131151640 single base substitution G T intron_variant KIRP-US 9 131151640 131151640 single base substitution G T missense_variant V97L 289G>T LAML-KR 9 131141754 131141754 single base substitution G A intron_variant LAML-KR 9 131141821 131141821 single base substitution G T intron_variant LICA-CN 9 131140346 131140346 single base substitution A C exon_variant LICA-CN 9 131140346 131140346 single base substitution A C missense_variant K23Q 67A>C LICA-CN 9 131140346 131140346 single base substitution A C missense_variant L36F 108A>C LICA-FR 9 131129759 131129759 single base substitution C T upstream_gene_variant LICA-FR 9 131153585 131153585 single base substitution T A downstream_gene_variant LIHC-US 9 131133678 131133678 single base substitution G C exon_variant LIHC-US 9 131133678 131133678 single base substitution G C missense_variant V7L 19G>C LIHC-US 9 131140322 131140322 single base substitution G A exon_variant LIHC-US 9 131140322 131140322 single base substitution G A missense_variant A15T 43G>A LIHC-US 9 131140322 131140322 single base substitution G A synonymous_variant V28V 84G>A LIHC-US 9 131140322 131140322 single base substitution G A upstream_gene_variant LIHC-US 9 131151593 131151593 single base substitution G T 3_prime_UTR_variant LIHC-US 9 131151593 131151593 single base substitution G T downstream_gene_variant LIHC-US 9 131151593 131151593 single base substitution G T exon_variant LIHC-US 9 131151593 131151593 single base substitution G T missense_variant S81I 242G>T LIHC-US 9 131151593 131151593 single base substitution G T splice_region_variant LIHC-US 9 131151971 131151971 single base substitution C T 3_prime_UTR_variant LIHC-US 9 131151971 131151971 single base substitution C T downstream_gene_variant LIHC-US 9 131151971 131151971 single base substitution C T exon_variant LIHC-US 9 131151971 131151971 single base substitution C T synonymous_variant D88D 264C>T LIHC-US 9 131152007 131152007 single base substitution C T 3_prime_UTR_variant LIHC-US 9 131152007 131152007 single base substitution C T downstream_gene_variant LIHC-US 9 131152007 131152007 single base substitution C T exon_variant LIHC-US 9 131152007 131152007 single base substitution C T synonymous_variant G100G 300C>T LINC-JP 9 131143396 131143396 single base substitution C A intron_variant LINC-JP 9 131151357 131151357 single base substitution A G 3_prime_UTR_variant LINC-JP 9 131151357 131151357 single base substitution A G downstream_gene_variant LINC-JP 9 131151357 131151357 single base substitution A G intron_variant LIRI-JP 9 131129344 131129344 single base substitution G T upstream_gene_variant LIRI-JP 9 131132584 131132584 single base substitution C T upstream_gene_variant LIRI-JP 9 131132780 131132780 single base substitution G T upstream_gene_variant LIRI-JP 9 131135292 131135292 single base substitution G T intron_variant LIRI-JP 9 131136225 131136225 single base substitution A C intron_variant LIRI-JP 9 131136225 131136225 single base substitution A C upstream_gene_variant LIRI-JP 9 131137126 131137126 single base substitution C T intron_variant LIRI-JP 9 131137126 131137126 single base substitution C T upstream_gene_variant LIRI-JP 9 131138238 131138238 single base substitution C A intron_variant LIRI-JP 9 131138238 131138238 single base substitution C A upstream_gene_variant LIRI-JP 9 131139714 131139714 single base substitution G A intron_variant LIRI-JP 9 131139714 131139714 single base substitution G A upstream_gene_variant LIRI-JP 9 131140404 131140404 single base substitution A T intron_variant LIRI-JP 9 131140677 131140677 single base substitution A G intron_variant LIRI-JP 9 131141847 131141847 single base substitution G A intron_variant LIRI-JP 9 131142747 131142747 single base substitution A G intron_variant LIRI-JP 9 131144458 131144458 single base substitution T C intron_variant LIRI-JP 9 131144785 131144785 single base substitution C T intron_variant LIRI-JP 9 131145151 131145151 single base substitution G A intron_variant LIRI-JP 9 131145521 131145521 single base substitution A G intron_variant LIRI-JP 9 131146704 131146704 single base substitution T C intron_variant LIRI-JP 9 131149810 131149810 single base substitution C T intron_variant LIRI-JP 9 131151188 131151188 single base substitution A G 3_prime_UTR_variant LIRI-JP 9 131151188 131151188 single base substitution A G downstream_gene_variant LIRI-JP 9 131151188 131151188 single base substitution A G intron_variant LIRI-JP 9 131151872 131151872 single base substitution G A 3_prime_UTR_variant LIRI-JP 9 131151872 131151872 single base substitution G A downstream_gene_variant LIRI-JP 9 131151872 131151872 single base substitution G A exon_variant LIRI-JP 9 131151872 131151872 single base substitution G A intron_variant LIRI-JP 9 131154110 131154110 single base substitution G A downstream_gene_variant LIRI-JP 9 131154314 131154314 single base substitution A T downstream_gene_variant LIRI-JP 9 131156457 131156457 single base substitution A G downstream_gene_variant LIRI-JP 9 131157566 131157566 single base substitution G A downstream_gene_variant LUSC-KR 9 131128709 131128709 single base substitution C A upstream_gene_variant LUSC-KR 9 131129759 131129759 single base substitution C T upstream_gene_variant LUSC-KR 9 131131293 131131293 single base substitution G C upstream_gene_variant LUSC-KR 9 131132519 131132519 single base substitution G A upstream_gene_variant LUSC-KR 9 131140323 131140323 single base substitution C T exon_variant LUSC-KR 9 131140323 131140323 single base substitution C T missense_variant A15V 44C>T LUSC-KR 9 131140323 131140323 single base substitution C T missense_variant R29W 85C>T LUSC-KR 9 131140323 131140323 single base substitution C T upstream_gene_variant LUSC-US 9 131151543 131151543 single base substitution G A 3_prime_UTR_variant LUSC-US 9 131151543 131151543 single base substitution G A downstream_gene_variant LUSC-US 9 131151543 131151543 single base substitution G A exon_variant LUSC-US 9 131151543 131151543 single base substitution G A synonymous_variant R64R 192G>A MALY-DE 9 131128915 131128915 single base substitution C T upstream_gene_variant MALY-DE 9 131129373 131129373 single base substitution A T upstream_gene_variant MALY-DE 9 131135593 131135593 single base substitution T C intron_variant MALY-DE 9 131135593 131135593 single base substitution T C upstream_gene_variant MALY-DE 9 131138997 131138997 single base substitution G A intron_variant MALY-DE 9 131138997 131138997 single base substitution G A upstream_gene_variant MALY-DE 9 131143016 131143016 single base substitution G A intron_variant MELA-AU 9 131129788 131129788 single base substitution G A upstream_gene_variant MELA-AU 9 131130176 131130176 single base substitution C T upstream_gene_variant MELA-AU 9 131130179 131130179 single base substitution G A upstream_gene_variant MELA-AU 9 131130362 131130362 single base substitution G A upstream_gene_variant MELA-AU 9 131130396 131130396 single base substitution G A upstream_gene_variant MELA-AU 9 131130737 131130737 single base substitution C T upstream_gene_variant MELA-AU 9 131132016 131132016 single base substitution C T upstream_gene_variant MELA-AU 9 131132202 131132202 single base substitution C T upstream_gene_variant MELA-AU 9 131132356 131132356 single base substitution G A upstream_gene_variant MELA-AU 9 131132939 131132939 single base substitution G A upstream_gene_variant MELA-AU 9 131133002 131133002 single base substitution T G upstream_gene_variant MELA-AU 9 131133572 131133572 single base substitution C T upstream_gene_variant MELA-AU 9 131136036 131136036 single base substitution G A intron_variant MELA-AU 9 131136036 131136036 single base substitution G A upstream_gene_variant MELA-AU 9 131136081 131136081 single base substitution C A intron_variant MELA-AU 9 131136081 131136081 single base substitution C A upstream_gene_variant MELA-AU 9 131136276 131136276 single base substitution C T intron_variant MELA-AU 9 131136276 131136276 single base substitution C T upstream_gene_variant MELA-AU 9 131138190 131138190 single base substitution C T intron_variant MELA-AU 9 131138190 131138190 single base substitution C T upstream_gene_variant MELA-AU 9 131140444 131140444 single base substitution G A intron_variant MELA-AU 9 131141013 131141013 single base substitution C T intron_variant MELA-AU 9 131141902 131141902 single base substitution C T intron_variant MELA-AU 9 131143020 131143020 single base substitution T C intron_variant MELA-AU 9 131143206 131143206 single base substitution C T intron_variant MELA-AU 9 131143620 131143620 single base substitution A G intron_variant MELA-AU 9 131143913 131143914 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 9 131145468 131145468 single base substitution C T intron_variant MELA-AU 9 131145867 131145867 single base substitution C T intron_variant MELA-AU 9 131145967 131145967 single base substitution C T intron_variant MELA-AU 9 131146285 131146285 single base substitution C T intron_variant MELA-AU 9 131146343 131146343 single base substitution C T intron_variant MELA-AU 9 131147388 131147388 single base substitution C T intron_variant MELA-AU 9 131147577 131147577 single base substitution C T intron_variant MELA-AU 9 131147628 131147628 single base substitution C T intron_variant MELA-AU 9 131147893 131147893 single base substitution C T intron_variant MELA-AU 9 131147962 131147962 single base substitution G A intron_variant MELA-AU 9 131148011 131148011 single base substitution C T intron_variant MELA-AU 9 131148264 131148264 single base substitution C T intron_variant MELA-AU 9 131148356 131148356 single base substitution C T intron_variant MELA-AU 9 131148421 131148421 single base substitution G A intron_variant MELA-AU 9 131148456 131148456 single base substitution C T intron_variant MELA-AU 9 131148956 131148956 single base substitution C T intron_variant MELA-AU 9 131149001 131149001 single base substitution C T intron_variant MELA-AU 9 131149343 131149343 single base substitution C T intron_variant MELA-AU 9 131149810 131149810 single base substitution C T intron_variant MELA-AU 9 131150240 131150240 single base substitution C T 3_prime_UTR_variant MELA-AU 9 131150240 131150240 single base substitution C T intron_variant MELA-AU 9 131150275 131150275 single base substitution T A 3_prime_UTR_variant MELA-AU 9 131150275 131150275 single base substitution T A intron_variant MELA-AU 9 131150618 131150618 single base substitution C T 3_prime_UTR_variant MELA-AU 9 131150618 131150618 single base substitution C T intron_variant MELA-AU 9 131150764 131150764 single base substitution C T 3_prime_UTR_variant MELA-AU 9 131150764 131150764 single base substitution C T downstream_gene_variant MELA-AU 9 131150764 131150764 single base substitution C T intron_variant MELA-AU 9 131151134 131151134 single base substitution C T 3_prime_UTR_variant MELA-AU 9 131151134 131151134 single base substitution C T downstream_gene_variant MELA-AU 9 131151134 131151134 single base substitution C T intron_variant MELA-AU 9 131151202 131151202 single base substitution C T 3_prime_UTR_variant MELA-AU 9 131151202 131151202 single base substitution C T downstream_gene_variant MELA-AU 9 131151202 131151202 single base substitution C T intron_variant MELA-AU 9 131151334 131151334 single base substitution C T 3_prime_UTR_variant MELA-AU 9 131151334 131151334 single base substitution C T downstream_gene_variant MELA-AU 9 131151334 131151334 single base substitution C T intron_variant MELA-AU 9 131151644 131151644 single base substitution G A 3_prime_UTR_variant MELA-AU 9 131151644 131151644 single base substitution G A downstream_gene_variant MELA-AU 9 131151644 131151644 single base substitution G A exon_variant MELA-AU 9 131151644 131151644 single base substitution G A intron_variant MELA-AU 9 131151644 131151644 single base substitution G A missense_variant G98E 293G>A MELA-AU 9 131151664 131151664 single base substitution C T 3_prime_UTR_variant MELA-AU 9 131151664 131151664 single base substitution C T downstream_gene_variant MELA-AU 9 131151664 131151664 single base substitution C T exon_variant MELA-AU 9 131151664 131151664 single base substitution C T intron_variant MELA-AU 9 131151664 131151664 single base substitution C T stop_gained Q105* 313C>T MELA-AU 9 131152241 131152241 single base substitution C T 3_prime_UTR_variant MELA-AU 9 131152241 131152241 single base substitution C T downstream_gene_variant MELA-AU 9 131152477 131152477 single base substitution C T 3_prime_UTR_variant MELA-AU 9 131152477 131152477 single base substitution C T downstream_gene_variant MELA-AU 9 131152617 131152617 single base substitution C T 3_prime_UTR_variant MELA-AU 9 131152617 131152617 single base substitution C T downstream_gene_variant MELA-AU 9 131152858 131152858 single base substitution C T 3_prime_UTR_variant MELA-AU 9 131152858 131152858 single base substitution C T downstream_gene_variant MELA-AU 9 131152917 131152917 single base substitution G A 3_prime_UTR_variant MELA-AU 9 131152917 131152917 single base substitution G A downstream_gene_variant MELA-AU 9 131153175 131153175 single base substitution C T downstream_gene_variant MELA-AU 9 131153351 131153351 single base substitution C T downstream_gene_variant MELA-AU 9 131153604 131153605 multiple base substitution (>=2bp and <=200bp) CT TA downstream_gene_variant MELA-AU 9 131154327 131154327 single base substitution C T downstream_gene_variant MELA-AU 9 131154566 131154566 single base substitution C T downstream_gene_variant MELA-AU 9 131155010 131155010 single base substitution C T downstream_gene_variant MELA-AU 9 131155031 131155031 single base substitution C T downstream_gene_variant MELA-AU 9 131155327 131155327 single base substitution G A downstream_gene_variant MELA-AU 9 131156590 131156590 single base substitution C T downstream_gene_variant ORCA-IN 9 131131584 131131584 single base substitution C T upstream_gene_variant OV-AU 9 131132774 131132774 single base substitution A T upstream_gene_variant OV-AU 9 131143776 131143776 single base substitution G C intron_variant OV-AU 9 131144494 131144494 single base substitution G C intron_variant OV-AU 9 131148453 131148453 single base substitution A C intron_variant PACA-AU 9 131130537 131130537 single base substitution C T upstream_gene_variant PACA-AU 9 131134073 131134073 single base substitution T C intron_variant PACA-AU 9 131135622 131135622 single base substitution A G intron_variant PACA-AU 9 131135622 131135622 single base substitution A G upstream_gene_variant PACA-AU 9 131138300 131138300 single base substitution G C intron_variant PACA-AU 9 131138300 131138300 single base substitution G C upstream_gene_variant PACA-AU 9 131141592 131141592 single base substitution C G intron_variant PACA-AU 9 131142155 131142155 single base substitution T G intron_variant PACA-AU 9 131152089 131152089 single base substitution G T 3_prime_UTR_variant PACA-AU 9 131152089 131152089 single base substitution G T downstream_gene_variant PACA-AU 9 131152089 131152089 single base substitution G T exon_variant PACA-AU 9 131152202 131152202 single base substitution C T 3_prime_UTR_variant PACA-AU 9 131152202 131152202 single base substitution C T downstream_gene_variant PACA-AU 9 131154819 131154819 single base substitution G A downstream_gene_variant PACA-CA 9 131128719 131128719 single base substitution C T upstream_gene_variant PACA-CA 9 131129996 131129996 single base substitution G A upstream_gene_variant PACA-CA 9 131129999 131129999 single base substitution G A upstream_gene_variant PACA-CA 9 131143846 131143846 single base substitution G C intron_variant PACA-CA 9 131150232 131150232 insertion of <=200bp - C 3_prime_UTR_variant PACA-CA 9 131150232 131150232 insertion of <=200bp - C intron_variant PACA-CA 9 131151084 131151084 insertion of <=200bp - A 3_prime_UTR_variant PACA-CA 9 131151084 131151084 insertion of <=200bp - A downstream_gene_variant PACA-CA 9 131151084 131151084 insertion of <=200bp - A intron_variant PACA-CA 9 131157205 131157205 single base substitution A T downstream_gene_variant PACA-CA 9 131157637 131157637 single base substitution C T downstream_gene_variant PAEN-AU 9 131133986 131133986 single base substitution T G intron_variant PAEN-AU 9 131138974 131138974 insertion of <=200bp - AATAA intron_variant PAEN-AU 9 131138974 131138974 insertion of <=200bp - AATAA upstream_gene_variant PBCA-DE 9 131130505 131130505 single base substitution C T upstream_gene_variant PBCA-DE 9 131141739 131141739 deletion of <=200bp C - intron_variant PBCA-DE 9 131142084 131142084 insertion of <=200bp - AAAAT intron_variant PBCA-DE 9 131148249 131148249 single base substitution G A intron_variant PBCA-DE 9 131149465 131149465 single base substitution G A intron_variant PRAD-CA 9 131132597 131132597 single base substitution A T upstream_gene_variant PRAD-CA 9 131141452 131141452 single base substitution G C intron_variant PRAD-UK 9 131148276 131148276 single base substitution A T intron_variant RECA-EU 9 131130331 131130331 single base substitution A G upstream_gene_variant RECA-EU 9 131142331 131142331 single base substitution A T intron_variant RECA-EU 9 131145809 131145809 single base substitution G T intron_variant RECA-EU 9 131150988 131150988 single base substitution G A 3_prime_UTR_variant RECA-EU 9 131150988 131150988 single base substitution G A downstream_gene_variant RECA-EU 9 131150988 131150988 single base substitution G A intron_variant SKCA-BR 9 131129611 131129611 single base substitution G A upstream_gene_variant SKCA-BR 9 131133626 131133626 single base substitution G A 5_prime_UTR_variant SKCA-BR 9 131133626 131133626 single base substitution G A upstream_gene_variant SKCA-BR 9 131146814 131146814 single base substitution A C intron_variant SKCA-BR 9 131151141 131151141 single base substitution A C 3_prime_UTR_variant SKCA-BR 9 131151141 131151141 single base substitution A C downstream_gene_variant SKCA-BR 9 131151141 131151141 single base substitution A C intron_variant SKCA-BR 9 131151687 131151687 single base substitution T G 3_prime_UTR_variant SKCA-BR 9 131151687 131151687 single base substitution T G downstream_gene_variant SKCA-BR 9 131151687 131151687 single base substitution T G exon_variant SKCA-BR 9 131151687 131151687 single base substitution T G intron_variant SKCA-BR 9 131151687 131151687 single base substitution T G synonymous_variant G112G 336T>G SKCA-BR 9 131152521 131152521 single base substitution C T 3_prime_UTR_variant SKCA-BR 9 131152521 131152521 single base substitution C T downstream_gene_variant SKCA-BR 9 131152569 131152569 single base substitution A C 3_prime_UTR_variant SKCA-BR 9 131152569 131152569 single base substitution A C downstream_gene_variant SKCA-BR 9 131153955 131153955 single base substitution T G downstream_gene_variant SKCA-BR 9 131157871 131157871 single base substitution G A downstream_gene_variant SKCM-US 9 131150102 131150102 single base substitution C T exon_variant SKCM-US 9 131150102 131150102 single base substitution C T missense_variant S52F 155C>T SKCM-US 9 131150102 131150102 single base substitution C T synonymous_variant I38I 114C>T SKCM-US 9 131151609 131151609 single base substitution C T 3_prime_UTR_variant SKCM-US 9 131151609 131151609 single base substitution C T downstream_gene_variant SKCM-US 9 131151609 131151609 single base substitution C T exon_variant SKCM-US 9 131151609 131151609 single base substitution C T intron_variant SKCM-US 9 131151609 131151609 single base substitution C T synonymous_variant I86I 258C>T SKCM-US 9 131151610 131151610 single base substitution C T 3_prime_UTR_variant SKCM-US 9 131151610 131151610 single base substitution C T downstream_gene_variant SKCM-US 9 131151610 131151610 single base substitution C T exon_variant SKCM-US 9 131151610 131151610 single base substitution C T intron_variant SKCM-US 9 131151610 131151610 single base substitution C T missense_variant P87S 259C>T SKCM-US 9 131151621 131151621 single base substitution C T 3_prime_UTR_variant SKCM-US 9 131151621 131151621 single base substitution C T downstream_gene_variant SKCM-US 9 131151621 131151621 single base substitution C T exon_variant SKCM-US 9 131151621 131151621 single base substitution C T intron_variant SKCM-US 9 131151621 131151621 single base substitution C T synonymous_variant A90A 270C>T SKCM-US 9 131151740 131151740 single base substitution C T 3_prime_UTR_variant SKCM-US 9 131151740 131151740 single base substitution C T downstream_gene_variant SKCM-US 9 131151740 131151740 single base substitution C T exon_variant SKCM-US 9 131151740 131151740 single base substitution C T intron_variant SKCM-US 9 131151740 131151740 single base substitution C T missense_variant P130L 389C>T UCEC-US 9 131140323 131140323 single base substitution C T exon_variant UCEC-US 9 131140323 131140323 single base substitution C T missense_variant A15V 44C>T UCEC-US 9 131140323 131140323 single base substitution C T missense_variant R29W 85C>T UCEC-US 9 131140323 131140323 single base substitution C T upstream_gene_variant UCEC-US 9 131140350 131140350 single base substitution A C exon_variant UCEC-US 9 131140350 131140350 single base substitution A C missense_variant K24T 71A>C UCEC-US 9 131140350 131140350 single base substitution A C missense_variant N38H 112A>C UCEC-US 9 131140355 131140355 single base substitution C T exon_variant UCEC-US 9 131140355 131140355 single base substitution C T stop_gained R26* 76C>T UCEC-US 9 131140355 131140355 single base substitution C T synonymous_variant I39I 117C>T UCEC-US 9 131151567 131151567 single base substitution C T 3_prime_UTR_variant UCEC-US 9 131151567 131151567 single base substitution C T downstream_gene_variant UCEC-US 9 131151567 131151567 single base substitution C T exon_variant UCEC-US 9 131151567 131151567 single base substitution C T synonymous_variant N72N 216C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand I2L-P7-Tumor-Organoid COSM5359659 c.60C>T p.D20D Substitution - coding silent 9:128378060-128378060 + TCGA-AP-A056-01 COSM1105559 c.44C>T p.A15V Substitution - Missense 9:128378044-128378044 + TCGA-DD-A113-01 COSM4925246 c.43G>A p.A15T Substitution - Missense 9:128378043-128378043 + TCGA-DD-A4NV-01 COSM4916470 c.237+5G>T p.? Unknown 9:128389314-128389314 + 1N52-VS-1T52 COSM4976836 c.223G>T p.D75Y Substitution - Missense 9:128389295-128389295 + TCGA-AP-A0LM-01 COSM1105561 c.76C>T p.R26* Substitution - Nonsense 9:128378076-128378076 + TCGA-G4-6588-01 COSM1460229 c.114C>A p.I38I Substitution - coding silent 9:128387823-128387823 + TCGA-BC-A10R-01 COSM4936038 c.264C>T p.D88D Substitution - coding silent 9:128389692-128389692 + TCGA-B5-A11E-01 COSM1105560 c.71A>C p.K24T Substitution - Missense 9:128378071-128378071 + 040 COSM146284 c.38_52del15 p.G13_L18>V Complex - deletion inframe 9:128378038-128378052 + LUAD-E00897 COSM364845 c.195A>T p.P65P Substitution - coding silent 9:128389267-128389267 + SJACT02_D COSM4968334 c.34G>C p.G12R Substitution - Missense 9:128371414-128371414 + TCGA-37-3783-01 COSM752625 c.192G>A p.R64R Substitution - coding silent 9:128389264-128389264 + Pat_24_A COSM5875614 c.115C>T p.R39W Substitution - Missense 9:128387824-128387824 + TCGA-DD-A73B-01 COSM4921095 c.300C>T p.G100G Substitution - coding silent 9:128389728-128389728 + TCGA-DS-A0VN-01 COSM462443 c.154G>C p.E52Q Substitution - Missense 9:128387863-128387863 + SC_9107 COSM5559936 c.209T>A p.L70Q Substitution - Missense 9:128389281-128389281 + TCGA-EB-A431-01 COSM3654608 c.114C>T p.I38I Substitution - coding silent 9:128387823-128387823 + TCGA-D1-A174-01 COSM203878 c.216C>T p.N72N Substitution - coding silent 9:128389288-128389288 + HCC127T COSM5822818 c.67A>C p.K23Q Substitution - Missense 9:128378067-128378067 + TCGA-ED-A7PZ-01 COSM4916751 c.19G>C p.V7L Substitution - Missense 9:128371399-128371399 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.495227;Hs.495229 9q34.11 612693 1521210|dbSNP|BC003581|C/T|non-coding||1268|Candidate; 1521210|dbSNP|BC011620|C/T|non-coding||2982|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G IntronicSNV . c.188+62A>G 9 131150238 HC C G Missense p.P116R c.347C>G 9 131151698 RCCC C T 3-UTRSNV . c.438+297C>T 9 131152086 CM C T Missense p.P104S c.310C>T 9 131151661 CM C T Missense p.P65L c.194C>T 9 131151545 STAD C T Synonymous p.D20D c.60C>T 9 131140339 HNSC C T Synonymous p.I58I c.174C>T 9 131150162 CM C T Synonymous p.N72N c.216C>T 9 131151567 UCEC G A 5-UTRSNV . c.1-59G>A 9 131133601 CM G A Synonymous p.R64R c.192G>A 9 131151543 LUSC