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 CESC 3 122134139 122134139 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr3:122134139G>C c.237C>G c.(235-237)ctC>ctG p.L79L COAD 3 122133395 122133395 + Missense_Mutation SNP C C A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr3:122133395C>A c.981G>T c.(979-981)atG>atT p.M327I COAD 3 122133512 122133512 + Silent SNP C C T TCGA-AA-3489-01A-21D-1835-10 TCGA-AA-3489-11A-01D-1835-10 g.chr3:122133512C>T c.864G>A c.(862-864)gaG>gaA p.E288E COAD 3 122133513 122133513 + Missense_Mutation SNP T T C TCGA-CM-6164-01A-11D-1650-10 TCGA-CM-6164-10A-01D-1650-10 g.chr3:122133513T>C c.863A>G c.(862-864)gAg>gGg p.E288G COAD 3 122133513 122133513 + Missense_Mutation SNP T T C TCGA-CM-6678-01A-11D-1835-10 TCGA-CM-6678-10A-01D-1835-10 g.chr3:122133513T>C c.863A>G c.(862-864)gAg>gGg p.E288G COAD 3 122133513 122133513 + Missense_Mutation SNP T T C TCGA-D5-6924-01A-11D-1924-10 TCGA-D5-6924-10A-01D-1924-10 g.chr3:122133513T>C c.863A>G c.(862-864)gAg>gGg p.E288G COAD 3 122133513 122133513 + Missense_Mutation SNP T T C TCGA-G4-6626-01A-11D-1771-10 TCGA-G4-6626-10A-01D-1771-10 g.chr3:122133513T>C c.863A>G c.(862-864)gAg>gGg p.E288G COAD 3 122133608 122133608 + Nonsense_Mutation SNP A A C TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr3:122133608A>C c.768T>G c.(766-768)taT>taG p.Y256* COAD 3 122133613 122133613 + Missense_Mutation SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr3:122133613T>G c.763A>C c.(763-765)Aaa>Caa p.K255Q COAD 3 122133656 122133656 + Missense_Mutation SNP G G T TCGA-G4-6303-01A-11D-1771-10 TCGA-G4-6303-10A-01D-1771-10 g.chr3:122133656G>T c.720C>A c.(718-720)agC>agA p.S240R COAD 3 122133656 122133656 + Silent SNP G G A TCGA-A6-5656-01A-21D-1835-10 TCGA-A6-5656-10A-01D-1835-10 g.chr3:122133656G>A c.720C>T c.(718-720)agC>agT p.S240S COAD 3 122133685 122133685 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr3:122133685C>T c.691G>A c.(691-693)Gac>Aac p.D231N COAD 3 122133703 122133703 + Missense_Mutation SNP T T G TCGA-AA-A01K-01A-01W-A00E-09 TCGA-AA-A01K-10A-01W-A00E-09 g.chr3:122133703T>G c.673A>C c.(673-675)Att>Ctt p.I225L COAD 3 122133815 122133815 + Silent SNP A A G TCGA-A6-5666-01A-01D-1650-10 TCGA-A6-5666-10A-01D-1650-10 g.chr3:122133815A>G c.561T>C c.(559-561)taT>taC p.Y187Y COAD 3 122133815 122133815 + Silent SNP A A G TCGA-CM-6680-01A-11D-1835-10 TCGA-CM-6680-10A-01D-1835-10 g.chr3:122133815A>G c.561T>C c.(559-561)taT>taC p.Y187Y COAD 3 122134076 122134076 + Silent SNP A A T TCGA-AA-3846-01A-01W-0995-10 TCGA-AA-3846-10A-01W-0995-10 g.chr3:122134076A>T c.300T>A c.(298-300)tcT>tcA p.S100S COAD 3 122134161 122134161 + Missense_Mutation SNP T T G TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr3:122134161T>G c.215A>C c.(214-216)gAt>gCt p.D72A COAD 3 122134170 122134170 + Missense_Mutation SNP C C G TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr3:122134170C>G c.206G>C c.(205-207)gGa>gCa p.G69A COADREAD 3 122133395 122133395 + Missense_Mutation SNP C C A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr3:122133395C>A c.981G>T c.(979-981)atG>atT p.M327I COADREAD 3 122133512 122133512 + Silent SNP C C T TCGA-AA-3489-01A-21D-1835-10 TCGA-AA-3489-11A-01D-1835-10 g.chr3:122133512C>T c.864G>A c.(862-864)gaG>gaA p.E288E COADREAD 3 122133513 122133513 + Missense_Mutation SNP T T C TCGA-AH-6643-01A-11D-1826-10 TCGA-AH-6643-11A-01D-1826-10 g.chr3:122133513T>C c.863A>G c.(862-864)gAg>gGg p.E288G COADREAD 3 122133513 122133513 + Missense_Mutation SNP T T C TCGA-CM-6164-01A-11D-1650-10 TCGA-CM-6164-10A-01D-1650-10 g.chr3:122133513T>C c.863A>G c.(862-864)gAg>gGg p.E288G COADREAD 3 122133513 122133513 + Missense_Mutation SNP T T C TCGA-CM-6678-01A-11D-1835-10 TCGA-CM-6678-10A-01D-1835-10 g.chr3:122133513T>C c.863A>G c.(862-864)gAg>gGg p.E288G COADREAD 3 122133513 122133513 + Missense_Mutation SNP T T C TCGA-D5-6924-01A-11D-1924-10 TCGA-D5-6924-10A-01D-1924-10 g.chr3:122133513T>C c.863A>G c.(862-864)gAg>gGg p.E288G COADREAD 3 122133513 122133513 + Missense_Mutation SNP T T C TCGA-G4-6626-01A-11D-1771-10 TCGA-G4-6626-10A-01D-1771-10 g.chr3:122133513T>C c.863A>G c.(862-864)gAg>gGg p.E288G COADREAD 3 122133553 122133553 + Missense_Mutation SNP C C T TCGA-AF-3913-01A-02W-1073-09 TCGA-AF-3913-11A-01W-1073-09 g.chr3:122133553C>T c.823G>A c.(823-825)Gag>Aag p.E275K COADREAD 3 122133608 122133608 + Nonsense_Mutation SNP A A C TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr3:122133608A>C c.768T>G c.(766-768)taT>taG p.Y256* COADREAD 3 122133613 122133613 + Missense_Mutation SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr3:122133613T>G c.763A>C c.(763-765)Aaa>Caa p.K255Q COADREAD 3 122133656 122133656 + Missense_Mutation SNP G G T TCGA-G4-6303-01A-11D-1771-10 TCGA-G4-6303-10A-01D-1771-10 g.chr3:122133656G>T c.720C>A c.(718-720)agC>agA p.S240R COADREAD 3 122133656 122133656 + Silent SNP G G A TCGA-A6-5656-01A-21D-1835-10 TCGA-A6-5656-10A-01D-1835-10 g.chr3:122133656G>A c.720C>T c.(718-720)agC>agT p.S240S COADREAD 3 122133685 122133685 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr3:122133685C>T c.691G>A c.(691-693)Gac>Aac p.D231N COADREAD 3 122133703 122133703 + Missense_Mutation SNP T T G TCGA-AA-A01K-01A-01W-A00E-09 TCGA-AA-A01K-10A-01W-A00E-09 g.chr3:122133703T>G c.673A>C c.(673-675)Att>Ctt p.I225L COADREAD 3 122133815 122133815 + Silent SNP A A G TCGA-A6-5666-01A-01D-1650-10 TCGA-A6-5666-10A-01D-1650-10 g.chr3:122133815A>G c.561T>C c.(559-561)taT>taC p.Y187Y COADREAD 3 122133815 122133815 + Silent SNP A A G TCGA-CM-6680-01A-11D-1835-10 TCGA-CM-6680-10A-01D-1835-10 g.chr3:122133815A>G c.561T>C c.(559-561)taT>taC p.Y187Y COADREAD 3 122134076 122134076 + Silent SNP A A T TCGA-AA-3846-01A-01W-0995-10 TCGA-AA-3846-10A-01W-0995-10 g.chr3:122134076A>T c.300T>A c.(298-300)tcT>tcA p.S100S COADREAD 3 122134161 122134161 + Missense_Mutation SNP T T G TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr3:122134161T>G c.215A>C c.(214-216)gAt>gCt p.D72A COADREAD 3 122134170 122134170 + Missense_Mutation SNP C C G TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr3:122134170C>G c.206G>C c.(205-207)gGa>gCa p.G69A ESCA 3 122133874 122133874 + Missense_Mutation SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 g.chr3:122133874C>T c.502G>A c.(502-504)Gac>Aac p.D168N HNSC 3 122133836 122133836 + Silent SNP G G T TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 g.chr3:122133836G>T c.540C>A c.(538-540)tcC>tcA p.S180S HNSC 3 122133906 122133906 + Missense_Mutation SNP C C T TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 g.chr3:122133906C>T c.470G>A c.(469-471)gGa>gAa p.G157E HNSC 3 122134164 122134164 + Missense_Mutation SNP T T C TCGA-UF-A7JF-01A-11D-A34J-08 TCGA-UF-A7JF-10A-01D-A34M-08 g.chr3:122134164T>C c.212A>G c.(211-213)tAt>tGt p.Y71C HNSC 3 122134192 122134192 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 g.chr3:122134192C>T c.184G>A c.(184-186)Gat>Aat p.D62N KIPAN 3 122133533 122133533 + Silent SNP A A T TCGA-CZ-4859-01A-02D-1429-08 TCGA-CZ-4859-11A-01D-1429-08 g.chr3:122133533A>T c.843T>A c.(841-843)atT>atA p.I281I KIPAN 3 122133767 122133767 + Silent SNP T T C TCGA-B0-4694-01A-01D-1361-10 TCGA-B0-4694-11A-01D-1361-10 g.chr3:122133767T>C c.609A>G c.(607-609)aaA>aaG p.K203K KIPAN 3 122134164 122134164 + Missense_Mutation SNP T T C TCGA-BP-4989-01A-01D-1462-08 TCGA-BP-4989-11A-01D-1462-08 g.chr3:122134164T>C c.212A>G c.(211-213)tAt>tGt p.Y71C KIRC 3 122133533 122133533 + Silent SNP A A T TCGA-CZ-4859-01A-02D-1429-08 TCGA-CZ-4859-11A-01D-1429-08 g.chr3:122133533A>T c.843T>A c.(841-843)atT>atA p.I281I KIRC 3 122133767 122133767 + Silent SNP T T C TCGA-B0-4694-01A-01D-1361-10 TCGA-B0-4694-11A-01D-1361-10 g.chr3:122133767T>C c.609A>G c.(607-609)aaA>aaG p.K203K KIRC 3 122134164 122134164 + Missense_Mutation SNP T T C TCGA-BP-4989-01A-01D-1462-08 TCGA-BP-4989-11A-01D-1462-08 g.chr3:122134164T>C c.212A>G c.(211-213)tAt>tGt p.Y71C LIHC 3 122133628 122133628 + Missense_Mutation SNP C C T TCGA-BC-A10W-01A-11D-A12Z-10 TCGA-BC-A10W-11A-11D-A12Z-10 g.chr3:122133628C>T c.748G>A c.(748-750)Ggt>Agt p.G250S LIHC 3 122133743 122133743 + Silent SNP A A G TCGA-DD-AAD5-01A-11D-A40R-10 TCGA-DD-AAD5-10A-01D-A40U-10 g.chr3:122133743A>G c.633T>C c.(631-633)ccT>ccC p.P211P LIHC 3 122133978 122133978 + Missense_Mutation SNP A A C TCGA-DD-AADD-01A-11D-A40R-10 TCGA-DD-AADD-10A-01D-A40U-10 g.chr3:122133978A>C c.398T>G c.(397-399)tTc>tGc p.F133C LIHC 3 122133991 122133991 + Missense_Mutation SNP A A C TCGA-DD-AADD-01A-11D-A40R-10 TCGA-DD-AADD-10A-01D-A40U-10 g.chr3:122133991A>C c.385T>G c.(385-387)Ttt>Gtt p.F129V LUAD 3 122134359 122134359 + Missense_Mutation SNP G G A TCGA-44-3398-01A-01D-1105-08 TCGA-44-3398-10A-01D-1105-08 g.chr3:122134359G>A c.17C>T c.(16-18)tCa>tTa p.S6L LUSC 3 122134320 122134320 + Missense_Mutation SNP G G A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 g.chr3:122134320G>A c.56C>T c.(55-57)gCc>gTc p.A19V OV 3 122133514 122133514 + Missense_Mutation SNP C C G TCGA-13-0912-01A-01W-0421-09 TCGA-13-0912-10A-01W-0421-09 g.chr3:122133514C>G c.862G>C c.(862-864)Gag>Cag p.E288Q OV 3 122133656 122133656 + Missense_Mutation SNP G G T TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 g.chr3:122133656G>T c.720C>A c.(718-720)agC>agA p.S240R OV 3 122133816 122133816 + Missense_Mutation SNP T T C TCGA-24-1418-01A-01W-0549-09 TCGA-24-1418-10A-01W-0549-09 g.chr3:122133816T>C c.560A>G c.(559-561)tAt>tGt p.Y187C PAAD 3 122134224 122134224 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:122134224G>T c.152C>A c.(151-153)cCt>cAt p.P51H PRAD 3 122133439 122133439 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr3:122133439C>T c.937G>A c.(937-939)Gca>Aca p.A313T PRAD 3 122134323 122134323 + Missense_Mutation SNP G G A TCGA-ZG-A9LB-01A-11D-A41K-08 TCGA-ZG-A9LB-10A-01D-A41N-08 g.chr3:122134323G>A c.53C>T c.(52-54)tCg>tTg p.S18L READ 3 122133513 122133513 + Missense_Mutation SNP T T C TCGA-AH-6643-01A-11D-1826-10 TCGA-AH-6643-11A-01D-1826-10 g.chr3:122133513T>C c.863A>G c.(862-864)gAg>gGg p.E288G READ 3 122133553 122133553 + Missense_Mutation SNP C C T TCGA-AF-3913-01A-02W-1073-09 TCGA-AF-3913-11A-01W-1073-09 g.chr3:122133553C>T c.823G>A c.(823-825)Gag>Aag p.E275K SKCM 3 122133664 122133664 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 g.chr3:122133664C>T c.712G>A c.(712-714)Gat>Aat p.D238N SKCM 3 122134306 122134306 + Missense_Mutation SNP C C T TCGA-FS-A1ZA-06A-11D-A197-08 TCGA-FS-A1ZA-10A-01D-A199-08 g.chr3:122134306C>T c.70G>A c.(70-72)Gaa>Aaa p.E24K SKCM 3 122134328 122134328 + Silent SNP G G A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr3:122134328G>A c.48C>T c.(46-48)tcC>tcT p.S16S

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 3 122128820 122128820 single base substitution G C downstream_gene_variant BRCA-EU 3 122129305 122129305 single base substitution T G downstream_gene_variant BRCA-EU 3 122130474 122130474 single base substitution C T downstream_gene_variant BRCA-EU 3 122130602 122130602 single base substitution A G downstream_gene_variant BRCA-EU 3 122131929 122131929 single base substitution C A 3_prime_UTR_variant BRCA-EU 3 122131976 122131976 single base substitution G C 3_prime_UTR_variant BRCA-EU 3 122132244 122132244 single base substitution C G 3_prime_UTR_variant BRCA-EU 3 122133265 122133265 single base substitution C G 3_prime_UTR_variant BRCA-EU 3 122134116 122134116 single base substitution G C missense_variant S87W 260C>G BRCA-EU 3 122135273 122135273 single base substitution A C upstream_gene_variant BRCA-EU 3 122135410 122135410 single base substitution G T upstream_gene_variant BRCA-EU 3 122135598 122135598 single base substitution C T upstream_gene_variant BRCA-EU 3 122135633 122135633 single base substitution C T upstream_gene_variant BRCA-EU 3 122136551 122136551 single base substitution A G upstream_gene_variant BRCA-EU 3 122137199 122137199 single base substitution T G upstream_gene_variant BRCA-EU 3 122137412 122137412 single base substitution G C upstream_gene_variant BRCA-EU 3 122137719 122137719 single base substitution G A upstream_gene_variant BRCA-EU 3 122139846 122139846 single base substitution G A upstream_gene_variant BRCA-UK 3 122130474 122130474 single base substitution C T downstream_gene_variant BRCA-US 3 122128605 122128605 single base substitution C T downstream_gene_variant BTCA-JP 3 122128689 122128689 single base substitution C T downstream_gene_variant BTCA-JP 3 122133659 122133659 single base substitution A G synonymous_variant Y239Y 717T>C CESC-US 3 122134139 122134139 single base substitution G C synonymous_variant L79L 237C>G CLLE-ES 3 122135919 122135919 deletion of <=200bp T - upstream_gene_variant COAD-US 3 122133395 122133395 single base substitution C A missense_variant M327I 981G>T COAD-US 3 122133572 122133572 single base substitution C A missense_variant K268N 804G>T COAD-US 3 122133608 122133608 single base substitution A C stop_gained Y256* 768T>G COAD-US 3 122133613 122133613 single base substitution T G missense_variant K255Q 763A>C COAD-US 3 122133830 122133830 single base substitution T G synonymous_variant I182I 546A>C COCA-CN 3 122134204 122134204 single base substitution T G missense_variant S58R 172A>C COCA-CN 3 122134379 122134379 single base substitution T C 5_prime_UTR_variant EOPC-DE 3 122133510 122133510 single base substitution A G missense_variant I289T 866T>C ESAD-UK 3 122132901 122132901 single base substitution A G 3_prime_UTR_variant ESAD-UK 3 122133483 122133483 single base substitution T A missense_variant D298V 893A>T ESAD-UK 3 122134200 122134200 single base substitution G A missense_variant S59F 176C>T ESAD-UK 3 122137198 122137198 single base substitution T G upstream_gene_variant KIRC-US 3 122133533 122133533 single base substitution A T synonymous_variant I281I 843T>A KIRC-US 3 122133767 122133767 single base substitution T C synonymous_variant K203K 609A>G KIRC-US 3 122134164 122134164 single base substitution T C missense_variant Y71C 212A>G KIRP-US 3 122128621 122128621 single base substitution C T downstream_gene_variant LAML-KR 3 122133321 122133321 single base substitution C T 3_prime_UTR_variant LICA-FR 3 122126225 122126225 single base substitution G A downstream_gene_variant LICA-FR 3 122133185 122133217 deletion of <=200bp AAAAAAGATTGGTAGTCAGAAGCTGAATTCTAG - 3_prime_UTR_variant LIHC-US 3 122133628 122133628 single base substitution C T missense_variant G250S 748G>A LINC-JP 3 122126014 122126014 single base substitution A G downstream_gene_variant LINC-JP 3 122126299 122126299 single base substitution A G downstream_gene_variant LINC-JP 3 122128629 122128629 single base substitution A G downstream_gene_variant LINC-JP 3 122129835 122129835 single base substitution T G downstream_gene_variant LINC-JP 3 122133725 122133725 single base substitution T G missense_variant K217N 651A>C LINC-JP 3 122133844 122133844 single base substitution T C missense_variant S178G 532A>G LINC-JP 3 122133979 122133979 single base substitution A C missense_variant F133V 397T>G LINC-JP 3 122134159 122134159 single base substitution C G missense_variant G73R 217G>C LINC-JP 3 122134284 122134284 single base substitution T C missense_variant Y31C 92A>G LINC-JP 3 122135111 122135111 single base substitution C G upstream_gene_variant LINC-JP 3 122136494 122136494 single base substitution T C upstream_gene_variant LINC-JP 3 122137464 122137464 single base substitution T G upstream_gene_variant LINC-JP 3 122137934 122137934 single base substitution T A upstream_gene_variant LIRI-JP 3 122125910 122125910 single base substitution C T downstream_gene_variant LIRI-JP 3 122127466 122127466 deletion of <=200bp C - downstream_gene_variant LIRI-JP 3 122130956 122130956 single base substitution A C 3_prime_UTR_variant LIRI-JP 3 122131965 122131965 single base substitution A G 3_prime_UTR_variant LIRI-JP 3 122132019 122132019 single base substitution A C 3_prime_UTR_variant LIRI-JP 3 122135502 122135502 single base substitution A G upstream_gene_variant LIRI-JP 3 122135527 122135527 single base substitution A T upstream_gene_variant LIRI-JP 3 122139546 122139546 single base substitution A G upstream_gene_variant LUSC-KR 3 122127315 122127315 single base substitution C T downstream_gene_variant LUSC-KR 3 122137443 122137443 single base substitution C G upstream_gene_variant LUSC-KR 3 122139876 122139876 single base substitution T G upstream_gene_variant LUSC-US 3 122126180 122126180 single base substitution C G downstream_gene_variant LUSC-US 3 122128637 122128637 single base substitution C A downstream_gene_variant LUSC-US 3 122134320 122134320 single base substitution G A missense_variant A19V 56C>T MALY-DE 3 122127784 122127784 single base substitution G T downstream_gene_variant MALY-DE 3 122135052 122135052 deletion of <=200bp T - upstream_gene_variant MALY-DE 3 122135069 122135069 single base substitution T C upstream_gene_variant MALY-DE 3 122135095 122135095 single base substitution T G upstream_gene_variant MALY-DE 3 122135116 122135116 insertion of <=200bp - A upstream_gene_variant MALY-DE 3 122135210 122135210 single base substitution T A upstream_gene_variant MALY-DE 3 122139872 122139872 single base substitution C A upstream_gene_variant MELA-AU 3 122125914 122125914 single base substitution C T downstream_gene_variant MELA-AU 3 122126407 122126407 single base substitution C T downstream_gene_variant MELA-AU 3 122126948 122126948 single base substitution C T downstream_gene_variant MELA-AU 3 122128476 122128476 single base substitution G A downstream_gene_variant MELA-AU 3 122128640 122128640 single base substitution C T downstream_gene_variant MELA-AU 3 122129025 122129025 single base substitution G A downstream_gene_variant MELA-AU 3 122129635 122129635 single base substitution T A downstream_gene_variant MELA-AU 3 122129889 122129889 single base substitution T C downstream_gene_variant MELA-AU 3 122130115 122130116 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 3 122130317 122130317 single base substitution C T downstream_gene_variant MELA-AU 3 122131597 122131598 multiple base substitution (>=2bp and <=200bp) AC CT 3_prime_UTR_variant MELA-AU 3 122132010 122132010 single base substitution C T 3_prime_UTR_variant MELA-AU 3 122134746 122134746 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 3 122134938 122134938 single base substitution A C upstream_gene_variant MELA-AU 3 122134938 122134938 single base substitution A T upstream_gene_variant MELA-AU 3 122134961 122134961 single base substitution G A upstream_gene_variant MELA-AU 3 122134982 122134982 single base substitution C T upstream_gene_variant MELA-AU 3 122134986 122134986 single base substitution C T upstream_gene_variant MELA-AU 3 122134988 122134988 single base substitution G A upstream_gene_variant MELA-AU 3 122135035 122135035 single base substitution C T upstream_gene_variant MELA-AU 3 122135035 122135036 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 3 122135048 122135048 single base substitution C T upstream_gene_variant MELA-AU 3 122135053 122135053 single base substitution C T upstream_gene_variant MELA-AU 3 122138223 122138224 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 3 122139298 122139298 single base substitution G A upstream_gene_variant OV-AU 3 122128706 122128706 single base substitution G C downstream_gene_variant OV-US 3 122133514 122133514 single base substitution C G missense_variant E288Q 862G>C OV-US 3 122133656 122133656 single base substitution G T missense_variant S240R 720C>A OV-US 3 122133816 122133816 single base substitution T C missense_variant Y187C 560A>G PACA-AU 3 122137439 122137439 single base substitution G A upstream_gene_variant PACA-AU 3 122138807 122138807 single base substitution G A upstream_gene_variant PACA-CA 3 122126625 122126625 single base substitution G A downstream_gene_variant PACA-CA 3 122127890 122127890 single base substitution T C downstream_gene_variant PACA-CA 3 122128676 122128676 single base substitution T C downstream_gene_variant PACA-CA 3 122133321 122133321 single base substitution C T 3_prime_UTR_variant PACA-CA 3 122134797 122134797 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant PACA-CA 3 122136508 122136508 single base substitution T C upstream_gene_variant PACA-CA 3 122136679 122136679 single base substitution T C upstream_gene_variant PACA-CA 3 122139439 122139439 single base substitution C T upstream_gene_variant PRAD-CA 3 122139010 122139010 single base substitution T A upstream_gene_variant PRAD-UK 3 122131893 122131893 single base substitution C A 3_prime_UTR_variant PRAD-UK 3 122136570 122136570 single base substitution C A upstream_gene_variant READ-US 3 122134022 122134022 single base substitution C A missense_variant L118F 354G>T RECA-EU 3 122138143 122138143 single base substitution G T upstream_gene_variant SKCA-BR 3 122127854 122127854 single base substitution T C downstream_gene_variant SKCA-BR 3 122127863 122127863 single base substitution T C downstream_gene_variant SKCA-BR 3 122130977 122130977 single base substitution A G 3_prime_UTR_variant SKCA-BR 3 122135019 122135019 single base substitution C T upstream_gene_variant SKCA-BR 3 122135048 122135048 single base substitution C T upstream_gene_variant SKCM-US 3 122133664 122133664 single base substitution C T missense_variant D238N 712G>A SKCM-US 3 122134306 122134306 single base substitution C T missense_variant E24K 70G>A SKCM-US 3 122134328 122134328 single base substitution G A synonymous_variant S16S 48C>T STAD-US 3 122133940 122133940 single base substitution C T missense_variant D146N 436G>A STAD-US 3 122133953 122133953 single base substitution G A synonymous_variant I141I 423C>T STAD-US 3 122134419 122134419 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant THCA-US 3 122134317 122134317 single base substitution T G missense_variant N20T 59A>C UCEC-US 3 122126162 122126162 single base substitution C T downstream_gene_variant UCEC-US 3 122128637 122128637 single base substitution C T downstream_gene_variant UCEC-US 3 122128697 122128697 single base substitution C G downstream_gene_variant UCEC-US 3 122134001 122134001 single base substitution A G synonymous_variant S125S 375T>C UCEC-US 3 122134062 122134062 single base substitution T G missense_variant K105T 314A>C

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand HN_62854 COSM127028 c.593C>G p.S198* Substitution - Nonsense 3:122414936-122414936 - TCGA-BC-A10W-01 COSM4557961 c.748G>A p.G250S Substitution - Missense 3:122414781-122414781 - TCGA-D3-A2JD-06 COSM3586300 c.712G>A p.D238N Substitution - Missense 3:122414817-122414817 - TCGA-56-6545-01 COSM727882 c.56C>T p.A19V Substitution - Missense 3:122415473-122415473 - TCGA-EI-6917-01 COSM3426963 c.354G>T p.L118F Substitution - Missense 3:122415175-122415175 - TCGA-Q1-A73O-01 COSM4835481 c.237C>G p.L79L Substitution - coding silent 3:122415292-122415292 - CSCC-49-T COSM4557961 c.748G>A p.G250S Substitution - Missense 3:122414781-122414781 - TCGA-CA-6718-01 COSM1418262 c.768T>G p.Y256* Substitution - Nonsense 3:122414761-122414761 - HCC74T COSM1616795 c.397T>G p.F133V Substitution - Missense 3:122415132-122415132 - LP6005690-DNA_D01 COSM5033512 c.893A>T p.D298V Substitution - Missense 3:122414636-122414636 - CSCC-29-T COSM4515528 c.115_116GG>AA p.G39K Substitution - Missense 3:122415413-122415414 - TCGA-G4-6302-01 COSM3759656 c.804G>T p.K268N Substitution - Missense 3:122414725-122414725 - TCGA-AA-3846-01 COSM295429 c.300T>A p.S100S Substitution - coding silent 3:122415229-122415229 - TCGA-BR-6452-01 COSM4112751 c.423C>T p.I141I Substitution - coding silent 3:122415106-122415106 - LUAD-QCHM7 COSM377233 c.436G>C p.D146H Substitution - Missense 3:122415093-122415093 - BN04T COSM1616797 c.92A>G p.Y31C Substitution - Missense 3:122415437-122415437 - TCGA-13-1482-01 COSM77010 c.720C>A p.S240R Substitution - Missense 3:122414809-122414809 - HCC74T COSM3660127 c.532A>G p.S178G Substitution - Missense 3:122414997-122414997 - TCGA-BP-4989-01 COSM479303 c.212A>G p.Y71C Substitution - Missense 3:122415317-122415317 - TCGA-24-1418-01 COSM77011 c.560A>G p.Y187C Substitution - Missense 3:122414969-122414969 - TCGA-AM-5820-01 COSM3759657 c.546A>C p.I182I Substitution - coding silent 3:122414983-122414983 - TCGA-D1-A16X-01 COSM1037128 c.314A>C p.K105T Substitution - Missense 3:122415215-122415215 - cSCCP8 COSM140462 c.343G>T p.G115* Substitution - Nonsense 3:122415186-122415186 - TCGA-CZ-4859-01 COSM479302 c.843T>A p.I281I Substitution - coding silent 3:122414686-122414686 - TCGA-AF-3913-01 COSM256109 c.823G>A p.E275K Substitution - Missense 3:122414706-122414706 - TCGA-A3-3374-01 COSM1495300 c.937G>A p.A313T Substitution - Missense 3:122414592-122414592 - TCGA-EL-A3D0-01 COSM3372981 c.59A>C p.N20T Substitution - Missense 3:122415470-122415470 - T578 COSM4741005 c.323A>C p.K108T Substitution - Missense 3:122415206-122415206 - TCGA-AA-A010-01 COSM286511 c.691G>A p.D231N Substitution - Missense 3:122414838-122414838 - HCC40T COSM1616796 c.217G>C p.G73R Substitution - Missense 3:122415312-122415312 - HCC74 COSM3660127 c.532A>G p.S178G Substitution - Missense 3:122414997-122414997 - PD24194a COSM5784667 c.260C>G p.S87W Substitution - Missense 3:122415269-122415269 - BN04 COSM1616797 c.92A>G p.Y31C Substitution - Missense 3:122415437-122415437 - TCGA-FS-A1ZA-06 COSM3586301 c.70G>A p.E24K Substitution - Missense 3:122415459-122415459 - HCC40 COSM1616796 c.217G>C p.G73R Substitution - Missense 3:122415312-122415312 - TCGA-AA-A01K-01 COSM287275 c.673A>C p.I225L Substitution - Missense 3:122414856-122414856 - SC_9047 COSM5568371 c.133T>C p.S45P Substitution - Missense 3:122415396-122415396 - TCGA-EE-A3JD-06 COSM4395571 c.48C>T p.S16S Substitution - coding silent 3:122415481-122415481 - PA285 COSM1163322 c.756G>A p.K252K Substitution - coding silent 3:122414773-122414773 - TCGA-BS-A0UF-01 COSM1037127 c.375T>C p.S125S Substitution - coding silent 3:122415154-122415154 - EOPC-048_tumor_01 COSM5951021 c.866T>C p.I289T Substitution - Missense 3:122414663-122414663 - HCC74 COSM1616795 c.397T>G p.F133V Substitution - Missense 3:122415132-122415132 - SKNEP1 COSM3121401 c.29A>C p.K10T Substitution - Missense 3:122415500-122415500 - TCGA-CA-6717-01 COSM1418263 c.763A>C p.K255Q Substitution - Missense 3:122414766-122414766 - YUKAT COSM5397944 c.319C>T p.L107L Substitution - coding silent 3:122415210-122415210 - 1N44-VS-1T44 COSM4975700 c.54G>C p.S18S Substitution - coding silent 3:122415475-122415475 - TCGA-13-0912-01 COSM77009 c.862G>C p.E288Q Substitution - Missense 3:122414667-122414667 - A9 COSM5350887 c.319C>G p.L107V Substitution - Missense 3:122415210-122415210 - BD56T COSM5520375 c.717T>C p.Y239Y Substitution - coding silent 3:122414812-122414812 - TCGA-B0-4694-01 COSM3364959 c.609A>G p.K203K Substitution - coding silent 3:122414920-122414920 - HX24T COSM3660126 c.651A>C p.K217N Substitution - Missense 3:122414878-122414878 - TCGA-CM-6162-01 COSM1418259 c.981G>T p.M327I Substitution - Missense 3:122414548-122414548 - TCGA-B7-5818-01 COSM4112750 c.436G>A p.D146N Substitution - Missense 3:122415093-122415093 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.567513 3q21.1

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C 3-UTRSNV . c.990+1367T>G 3 122132019 HC A T Synonymous p.I281I c.843T>A 3 122133533 RCCC A T Synonymous p.S100S c.300T>A 3 122134076 COREAD C G Missense p.E288Q c.862G>C 3 122133514 OV C T Missense p.D146N c.436G>A 3 122133940 STAD C T Missense p.D238N c.712G>A 3 122133664 CM C T Missense p.E24K c.70G>A 3 122134306 CM C T Missense p.E275K c.823G>A 3 122133553 COREAD C T Missense p.G157E c.470G>A 3 122133906 HNSC G A Missense p.A19V c.56C>T 3 122134320 LUSC G A Missense p.S214F c.641C>T 3 122133735 CM G A Missense p.S6L c.17C>T 3 122134359 LUAD G A Synonymous p.S16S c.48C>T 3 122134328 CM G C Nonsense p.S198* c.593C>G 3 122133783 HNSC G T Missense p.S240R c.720C>A 3 122133656 OV T C Missense p.Y187C c.560A>G 3 122133816 OV T C Missense p.Y71C c.212A>G 3 122134164 RCCC T C Synonymous p.K203K c.609A>G 3 122133767 RCCC T G Missense p.I225L c.673A>C 3 122133703 COREAD T G Missense p.N20T c.59A>C 3 122134317 THCA