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 3 196311153 196311153 + Silent SNP G G A TCGA-LT-A5Z6-01A-11D-A289-08 TCGA-LT-A5Z6-10A-01D-A289-08 g.chr3:196311153G>A c.825G>A c.(823-825)gtG>gtA p.V275V BLCA 3 196311180 196311181 + Frame_Shift_Del DEL GG GG - TCGA-DK-AA6R-01A-11D-A42E-08 TCGA-DK-AA6R-10A-01D-A42H-08 g.chr3:196311180_196311181delGG c.852_853delGG c.(850-855)ttggacfs p.D285fs BRCA 3 196296086 196296086 + Silent SNP G G A TCGA-HN-A2NL-01A-11D-A18P-09 TCGA-HN-A2NL-10A-01D-A18P-09 g.chr3:196296086G>A c.231G>A c.(229-231)gaG>gaA p.E77E CESC 3 196304665 196304665 + Silent SNP C C T TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 g.chr3:196304665C>T c.660C>T c.(658-660)aaC>aaT p.N220N CESC 3 196311048 196311048 + Silent SNP T T A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr3:196311048T>A c.720T>A c.(718-720)acT>acA p.T240T COAD 3 196311014 196311014 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr3:196311014G>T c.686G>T c.(685-687)aGa>aTa p.R229I COAD 3 196311020 196311020 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr3:196311020G>A c.692G>A c.(691-693)cGa>cAa p.R231Q COAD 3 196311032 196311032 + Missense_Mutation SNP A A G TCGA-CM-5349-01A-21D-1719-10 TCGA-CM-5349-10A-01D-1719-10 g.chr3:196311032A>G c.704A>G c.(703-705)gAc>gGc p.D235G COADREAD 3 196311014 196311014 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr3:196311014G>T c.686G>T c.(685-687)aGa>aTa p.R229I COADREAD 3 196311020 196311020 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr3:196311020G>A c.692G>A c.(691-693)cGa>cAa p.R231Q COADREAD 3 196311032 196311032 + Missense_Mutation SNP A A G TCGA-AG-3731-01A-11D-1733-10 TCGA-AG-3731-11A-01D-1733-10 g.chr3:196311032A>G c.704A>G c.(703-705)gAc>gGc p.D235G COADREAD 3 196311032 196311032 + Missense_Mutation SNP A A G TCGA-CM-5349-01A-21D-1719-10 TCGA-CM-5349-10A-01D-1719-10 g.chr3:196311032A>G c.704A>G c.(703-705)gAc>gGc p.D235G COADREAD 3 196311032 196311032 + Missense_Mutation SNP A A G TCGA-DY-A1DF-01A-11D-A152-10 TCGA-DY-A1DF-10A-01D-A152-10 g.chr3:196311032A>G c.704A>G c.(703-705)gAc>gGc p.D235G COADREAD 3 196311045 196311045 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:196311045G>T c.717G>T c.(715-717)aaG>aaT p.K239N DLBC 3 196295974 196295974 + Missense_Mutation SNP C C T TCGA-G8-6906-01A-11D-2210-10 TCGA-G8-6906-14A-01D-2210-10 g.chr3:196295974C>T c.119C>T c.(118-120)cCc>cTc p.P40L ESCA 3 196304479 196304479 + Missense_Mutation SNP A A C TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 g.chr3:196304479A>C c.474A>C c.(472-474)gaA>gaC p.E158D ESCA 3 196311080 196311080 + Missense_Mutation SNP G G T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 g.chr3:196311080G>T c.752G>T c.(751-753)gGg>gTg p.G251V HNSC 3 196311148 196311148 + Missense_Mutation SNP G G A TCGA-T2-A6X2-01A-12D-A34J-08 TCGA-T2-A6X2-10B-01D-A34M-08 g.chr3:196311148G>A c.820G>A c.(820-822)Gaa>Aaa p.E274K KIPAN 3 196304554 196304554 + Missense_Mutation SNP A A T TCGA-BQ-5876-01A-11D-1589-08 TCGA-BQ-5876-11A-01D-1589-08 g.chr3:196304554A>T c.549A>T c.(547-549)caA>caT p.Q183H KIRP 3 196304554 196304554 + Missense_Mutation SNP A A T TCGA-BQ-5876-01A-11D-1589-08 TCGA-BQ-5876-11A-01D-1589-08 g.chr3:196304554A>T c.549A>T c.(547-549)caA>caT p.Q183H LIHC 3 196296086 196296086 + Missense_Mutation SNP G G C TCGA-DD-AACL-01A-11D-A40R-10 TCGA-DD-AACL-10A-01D-A40U-10 g.chr3:196296086G>C c.231G>C c.(229-231)gaG>gaC p.E77D LIHC 3 196304623 196304623 + Silent SNP A A T TCGA-ES-A2HS-01A-11D-A183-10 TCGA-ES-A2HS-11A-11D-A183-10 g.chr3:196304623A>T c.618A>T c.(616-618)ctA>ctT p.L206L LUAD 3 196311060 196311060 + Silent SNP A A G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 g.chr3:196311060A>G c.732A>G c.(730-732)gaA>gaG p.E244E LUSC 3 196304528 196304528 + Missense_Mutation SNP A A T TCGA-66-2793-01A-01D-1267-08 TCGA-66-2793-11A-01D-1267-08 g.chr3:196304528A>T c.523A>T c.(523-525)Aca>Tca p.T175S PAAD 3 196304505 196304505 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:196304505C>T c.500C>T c.(499-501)aCt>aTt p.T167I PAAD 3 196304578 196304578 + Silent SNP T T C TCGA-LB-A7SX-01A-11D-A33T-08 TCGA-LB-A7SX-10A-01D-A33W-08 g.chr3:196304578T>C c.573T>C c.(571-573)agT>agC p.S191S PRAD 3 196311181 196311181 + Missense_Mutation SNP G G T TCGA-ZG-A9L0-01A-11D-A41K-08 TCGA-ZG-A9L0-10A-01D-A41N-08 g.chr3:196311181G>T c.853G>T c.(853-855)Gac>Tac p.D285Y READ 3 196311032 196311032 + Missense_Mutation SNP A A G TCGA-AG-3731-01A-11D-1733-10 TCGA-AG-3731-11A-01D-1733-10 g.chr3:196311032A>G c.704A>G c.(703-705)gAc>gGc p.D235G READ 3 196311032 196311032 + Missense_Mutation SNP A A G TCGA-DY-A1DF-01A-11D-A152-10 TCGA-DY-A1DF-10A-01D-A152-10 g.chr3:196311032A>G c.704A>G c.(703-705)gAc>gGc p.D235G READ 3 196311045 196311045 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:196311045G>T c.717G>T c.(715-717)aaG>aaT p.K239N SKCM 3 196304365 196304365 + Silent SNP C C T TCGA-FS-A1ZA-06A-11D-A197-08 TCGA-FS-A1ZA-10A-01D-A199-08 g.chr3:196304365C>T c.360C>T c.(358-360)tcC>tcT p.S120S

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 196290627 196290627 single base substitution G C upstream_gene_variant BRCA-EU 3 196295070 196295070 single base substitution G A upstream_gene_variant BRCA-EU 3 196297082 196297082 single base substitution G A intron_variant BRCA-EU 3 196298309 196298309 single base substitution C G intron_variant BRCA-EU 3 196298720 196298720 single base substitution T C intron_variant BRCA-EU 3 196299610 196299610 single base substitution G T intron_variant BRCA-EU 3 196300618 196300618 single base substitution C T intron_variant BRCA-EU 3 196300715 196300715 single base substitution C G intron_variant BRCA-EU 3 196302049 196302049 single base substitution G A intron_variant BRCA-EU 3 196302219 196302219 single base substitution C T intron_variant BRCA-EU 3 196302779 196302779 single base substitution T A intron_variant BRCA-EU 3 196303821 196303821 deletion of <=200bp T - intron_variant BRCA-EU 3 196305682 196305682 single base substitution T A intron_variant BRCA-EU 3 196305739 196305739 single base substitution C T intron_variant BRCA-EU 3 196305807 196305807 single base substitution C G intron_variant BRCA-EU 3 196305858 196305858 single base substitution C T intron_variant BRCA-EU 3 196306308 196306308 deletion of <=200bp A - intron_variant BRCA-EU 3 196308183 196308183 insertion of <=200bp - CCAC intron_variant BRCA-EU 3 196308613 196308613 single base substitution G C intron_variant BRCA-EU 3 196308733 196308733 single base substitution G A intron_variant BRCA-EU 3 196308892 196308892 single base substitution C G intron_variant BRCA-EU 3 196309615 196309615 single base substitution A C intron_variant BRCA-EU 3 196309866 196309866 insertion of <=200bp - T intron_variant BRCA-EU 3 196310769 196310769 single base substitution C T intron_variant BRCA-EU 3 196314240 196314240 single base substitution C G 3_prime_UTR_variant BRCA-EU 3 196314240 196314240 single base substitution C G downstream_gene_variant BRCA-EU 3 196315405 196315405 single base substitution C G 3_prime_UTR_variant BRCA-EU 3 196315405 196315405 single base substitution C G downstream_gene_variant BRCA-EU 3 196317127 196317127 single base substitution G A downstream_gene_variant BRCA-EU 3 196317128 196317128 single base substitution C T downstream_gene_variant BRCA-EU 3 196317506 196317506 single base substitution C G downstream_gene_variant BRCA-EU 3 196318102 196318102 single base substitution G T downstream_gene_variant BRCA-EU 3 196319065 196319065 single base substitution G A downstream_gene_variant BRCA-EU 3 196319533 196319533 single base substitution T C downstream_gene_variant BRCA-EU 3 196320288 196320288 single base substitution C G downstream_gene_variant BRCA-FR 3 196295070 196295070 single base substitution G A upstream_gene_variant BRCA-FR 3 196296018 196296018 single base substitution G A intron_variant BRCA-FR 3 196296018 196296018 single base substitution G A missense_variant E55K 163G>A BRCA-FR 3 196302219 196302219 single base substitution C T intron_variant BRCA-FR 3 196305739 196305739 single base substitution C T intron_variant BRCA-FR 3 196317127 196317127 single base substitution G A downstream_gene_variant BRCA-FR 3 196317128 196317128 single base substitution C T downstream_gene_variant BRCA-FR 3 196317506 196317506 single base substitution C G downstream_gene_variant BRCA-UK 3 196296625 196296625 single base substitution G C intron_variant BRCA-UK 3 196318323 196318323 single base substitution G A downstream_gene_variant BRCA-UK 3 196318805 196318805 single base substitution G T downstream_gene_variant CESC-US 3 196304665 196304665 single base substitution C T synonymous_variant N220N 660C>T CESC-US 3 196304665 196304665 single base substitution C T synonymous_variant N41N 123C>T CESC-US 3 196311048 196311048 single base substitution T A synonymous_variant T240T 720T>A CESC-US 3 196311048 196311048 single base substitution T A synonymous_variant T61T 183T>A CLLE-ES 3 196294385 196294385 single base substitution T C upstream_gene_variant COAD-US 3 196311020 196311020 single base substitution G A missense_variant R231Q 692G>A COAD-US 3 196311020 196311020 single base substitution G A missense_variant R52Q 155G>A COCA-CN 3 196304726 196304726 single base substitution C T intron_variant COCA-CN 3 196311075 196311075 single base substitution C T synonymous_variant F249F 747C>T COCA-CN 3 196311075 196311075 single base substitution C T synonymous_variant F70F 210C>T COCA-CN 3 196311168 196311168 single base substitution T G synonymous_variant L101L 303T>G COCA-CN 3 196311168 196311168 single base substitution T G synonymous_variant L280L 840T>G COCA-CN 3 196311195 196311195 single base substitution G A 3_prime_UTR_variant EOPC-DE 3 196302903 196302903 single base substitution C T intron_variant ESAD-UK 3 196292600 196292600 single base substitution G C upstream_gene_variant ESAD-UK 3 196297157 196297157 single base substitution G A intron_variant ESAD-UK 3 196297821 196297821 single base substitution A T intron_variant ESAD-UK 3 196301143 196301143 single base substitution T A intron_variant ESAD-UK 3 196303988 196303988 single base substitution C A intron_variant ESAD-UK 3 196304325 196304325 single base substitution T C missense_variant I107T 320T>C ESAD-UK 3 196304325 196304325 single base substitution T C splice_region_variant ESAD-UK 3 196311424 196311424 single base substitution G T 3_prime_UTR_variant ESAD-UK 3 196311760 196311760 single base substitution G T 3_prime_UTR_variant ESAD-UK 3 196314605 196314605 single base substitution T C 3_prime_UTR_variant ESAD-UK 3 196314605 196314605 single base substitution T C downstream_gene_variant ESAD-UK 3 196317403 196317403 single base substitution C T downstream_gene_variant ESAD-UK 3 196317451 196317451 single base substitution G A downstream_gene_variant ESAD-UK 3 196319659 196319659 single base substitution G A downstream_gene_variant ESAD-UK 3 196320099 196320099 single base substitution C T downstream_gene_variant ESAD-UK 3 196320665 196320665 single base substitution A G downstream_gene_variant KIRP-US 3 196304554 196304554 single base substitution A T missense_variant Q183H 549A>T KIRP-US 3 196304554 196304554 single base substitution A T missense_variant Q4H 12A>T LICA-FR 3 196294623 196294623 insertion of <=200bp - TGTGTGTG upstream_gene_variant LICA-FR 3 196296162 196296162 insertion of <=200bp - T frameshift_variant Y103L? LICA-FR 3 196296162 196296162 insertion of <=200bp - T intron_variant LICA-FR 3 196299801 196299801 insertion of <=200bp - T intron_variant LIHC-US 3 196304623 196304623 single base substitution A T synonymous_variant L206L 618A>T LIHC-US 3 196304623 196304623 single base substitution A T synonymous_variant L27L 81A>T LINC-JP 3 196290967 196290967 single base substitution G C upstream_gene_variant LINC-JP 3 196294183 196294183 single base substitution T A upstream_gene_variant LINC-JP 3 196299337 196299337 single base substitution A G intron_variant LINC-JP 3 196304917 196304917 single base substitution C T intron_variant LINC-JP 3 196311231 196311231 single base substitution C A 3_prime_UTR_variant LIRI-JP 3 196290815 196290815 single base substitution G C upstream_gene_variant LIRI-JP 3 196291761 196291761 single base substitution C A upstream_gene_variant LIRI-JP 3 196294881 196294881 single base substitution T C upstream_gene_variant LIRI-JP 3 196296417 196296417 single base substitution A G intron_variant LIRI-JP 3 196299208 196299208 single base substitution A C intron_variant LIRI-JP 3 196301162 196301162 single base substitution A G intron_variant LIRI-JP 3 196302903 196302903 single base substitution C T intron_variant LIRI-JP 3 196303630 196303630 single base substitution G A intron_variant LIRI-JP 3 196307101 196307101 single base substitution A G intron_variant LIRI-JP 3 196312185 196312185 single base substitution A G 3_prime_UTR_variant LIRI-JP 3 196312665 196312665 single base substitution G A 3_prime_UTR_variant LIRI-JP 3 196314860 196314860 single base substitution T A 3_prime_UTR_variant LIRI-JP 3 196314860 196314860 single base substitution T A downstream_gene_variant LIRI-JP 3 196315266 196315266 single base substitution A G 3_prime_UTR_variant LIRI-JP 3 196315266 196315266 single base substitution A G downstream_gene_variant LIRI-JP 3 196316461 196316461 single base substitution C T downstream_gene_variant LIRI-JP 3 196320008 196320008 single base substitution G C downstream_gene_variant LUSC-KR 3 196291562 196291562 single base substitution C T upstream_gene_variant LUSC-KR 3 196293838 196293838 single base substitution C A upstream_gene_variant LUSC-KR 3 196295593 196295593 single base substitution C A 5_prime_UTR_variant LUSC-KR 3 196297803 196297803 single base substitution C G intron_variant LUSC-KR 3 196298830 196298830 single base substitution C T intron_variant LUSC-KR 3 196301852 196301852 single base substitution A G intron_variant LUSC-KR 3 196303333 196303333 single base substitution C T intron_variant LUSC-KR 3 196306893 196306893 single base substitution A T intron_variant LUSC-KR 3 196310669 196310669 single base substitution G C intron_variant LUSC-KR 3 196312900 196312900 single base substitution G A 3_prime_UTR_variant LUSC-KR 3 196312951 196312951 single base substitution T C 3_prime_UTR_variant LUSC-KR 3 196314211 196314211 single base substitution A G 3_prime_UTR_variant LUSC-KR 3 196314211 196314211 single base substitution A G downstream_gene_variant LUSC-KR 3 196319105 196319105 single base substitution T A downstream_gene_variant LUSC-KR 3 196319656 196319656 single base substitution G A downstream_gene_variant LUSC-US 3 196304528 196304528 single base substitution A T 5_prime_UTR_variant LUSC-US 3 196304528 196304528 single base substitution A T missense_variant T175S 523A>T MALY-DE 3 196296694 196296694 single base substitution T G intron_variant MALY-DE 3 196298886 196298888 deletion of <=200bp AGA - intron_variant MALY-DE 3 196300425 196300425 single base substitution G A intron_variant MALY-DE 3 196300449 196300449 single base substitution A G intron_variant MALY-DE 3 196308593 196308593 single base substitution C T intron_variant MALY-DE 3 196308617 196308617 deletion of <=200bp T - intron_variant MELA-AU 3 196291116 196291116 single base substitution G A upstream_gene_variant MELA-AU 3 196291855 196291855 single base substitution C T upstream_gene_variant MELA-AU 3 196291918 196291918 single base substitution T A upstream_gene_variant MELA-AU 3 196292879 196292879 single base substitution A G upstream_gene_variant MELA-AU 3 196293096 196293096 single base substitution G A upstream_gene_variant MELA-AU 3 196293386 196293386 single base substitution G A upstream_gene_variant MELA-AU 3 196293700 196293700 single base substitution G A upstream_gene_variant MELA-AU 3 196293717 196293717 single base substitution G A upstream_gene_variant MELA-AU 3 196293751 196293751 single base substitution G T upstream_gene_variant MELA-AU 3 196294325 196294325 single base substitution G A upstream_gene_variant MELA-AU 3 196294388 196294388 single base substitution G A upstream_gene_variant MELA-AU 3 196294588 196294588 single base substitution G A upstream_gene_variant MELA-AU 3 196295376 196295376 single base substitution C T upstream_gene_variant MELA-AU 3 196295514 196295514 single base substitution G A 5_prime_UTR_variant MELA-AU 3 196295514 196295514 single base substitution G A upstream_gene_variant MELA-AU 3 196295700 196295700 single base substitution C T 5_prime_UTR_variant MELA-AU 3 196295700 196295700 single base substitution C T intron_variant MELA-AU 3 196296894 196296894 single base substitution C T intron_variant MELA-AU 3 196297474 196297474 single base substitution G A intron_variant MELA-AU 3 196297824 196297824 single base substitution C T intron_variant MELA-AU 3 196298573 196298573 single base substitution C T intron_variant MELA-AU 3 196299510 196299510 single base substitution G A intron_variant MELA-AU 3 196301316 196301316 single base substitution C T intron_variant MELA-AU 3 196301377 196301377 single base substitution C T intron_variant MELA-AU 3 196302535 196302535 single base substitution C T intron_variant MELA-AU 3 196302811 196302811 single base substitution G A intron_variant MELA-AU 3 196304797 196304797 single base substitution T A intron_variant MELA-AU 3 196305019 196305019 single base substitution C T intron_variant MELA-AU 3 196305495 196305495 single base substitution C T intron_variant MELA-AU 3 196305827 196305827 single base substitution T G intron_variant MELA-AU 3 196306254 196306254 single base substitution T G intron_variant MELA-AU 3 196306885 196306885 single base substitution G T intron_variant MELA-AU 3 196307084 196307084 single base substitution T A intron_variant MELA-AU 3 196307836 196307836 single base substitution T A intron_variant MELA-AU 3 196308015 196308015 single base substitution C T intron_variant MELA-AU 3 196308401 196308401 single base substitution G A intron_variant MELA-AU 3 196308890 196308890 single base substitution C T intron_variant MELA-AU 3 196308909 196308909 single base substitution C T intron_variant MELA-AU 3 196309829 196309829 single base substitution C T intron_variant MELA-AU 3 196309950 196309950 single base substitution C T intron_variant MELA-AU 3 196309987 196309987 single base substitution C T intron_variant MELA-AU 3 196310002 196310002 single base substitution C T intron_variant MELA-AU 3 196310069 196310069 single base substitution T C intron_variant MELA-AU 3 196311353 196311353 single base substitution C T 3_prime_UTR_variant MELA-AU 3 196313785 196313785 single base substitution C T 3_prime_UTR_variant MELA-AU 3 196313918 196313918 single base substitution C T 3_prime_UTR_variant MELA-AU 3 196314866 196314866 single base substitution G A 3_prime_UTR_variant MELA-AU 3 196314866 196314866 single base substitution G A downstream_gene_variant MELA-AU 3 196315298 196315298 single base substitution T C 3_prime_UTR_variant MELA-AU 3 196315298 196315298 single base substitution T C downstream_gene_variant MELA-AU 3 196315435 196315435 single base substitution C T 3_prime_UTR_variant MELA-AU 3 196315435 196315435 single base substitution C T downstream_gene_variant MELA-AU 3 196316859 196316859 single base substitution C T downstream_gene_variant MELA-AU 3 196316961 196316961 single base substitution C T downstream_gene_variant MELA-AU 3 196317564 196317564 single base substitution G A downstream_gene_variant MELA-AU 3 196318593 196318593 single base substitution G A downstream_gene_variant MELA-AU 3 196318668 196318668 single base substitution C T downstream_gene_variant MELA-AU 3 196318848 196318848 single base substitution G A downstream_gene_variant MELA-AU 3 196319879 196319879 single base substitution C T downstream_gene_variant MELA-AU 3 196319925 196319925 single base substitution G A downstream_gene_variant MELA-AU 3 196320496 196320496 single base substitution G A downstream_gene_variant MELA-AU 3 196320817 196320817 single base substitution T A downstream_gene_variant MELA-AU 3 196320862 196320862 single base substitution G A downstream_gene_variant ORCA-IN 3 196296007 196296007 single base substitution T C intron_variant ORCA-IN 3 196296007 196296007 single base substitution T C missense_variant L51P 152T>C ORCA-IN 3 196318719 196318719 single base substitution C T downstream_gene_variant OV-AU 3 196291156 196291156 single base substitution T A upstream_gene_variant OV-AU 3 196296445 196296445 single base substitution G C intron_variant OV-AU 3 196300654 196300654 single base substitution A C intron_variant OV-AU 3 196305432 196305432 single base substitution A C intron_variant OV-AU 3 196311184 196311184 single base substitution G A missense_variant G107R 319G>A OV-AU 3 196311184 196311184 single base substitution G A missense_variant G286R 856G>A OV-AU 3 196313852 196313852 single base substitution T C 3_prime_UTR_variant PACA-AU 3 196297784 196297784 single base substitution G A intron_variant PACA-AU 3 196303369 196303369 single base substitution C T intron_variant PACA-AU 3 196303527 196303527 single base substitution C A intron_variant PACA-AU 3 196312890 196312890 single base substitution A G 3_prime_UTR_variant PACA-AU 3 196312898 196312898 single base substitution A G 3_prime_UTR_variant PACA-AU 3 196313665 196313665 single base substitution G A 3_prime_UTR_variant PACA-AU 3 196316017 196316017 single base substitution A T downstream_gene_variant PACA-AU 3 196317874 196317874 single base substitution G T downstream_gene_variant PACA-AU 3 196320044 196320044 single base substitution T C downstream_gene_variant PACA-AU 3 196320267 196320267 single base substitution T C downstream_gene_variant PACA-CA 3 196291790 196291790 single base substitution A T upstream_gene_variant PACA-CA 3 196295432 196295432 single base substitution A C upstream_gene_variant PACA-CA 3 196297177 196297177 single base substitution C T intron_variant PACA-CA 3 196297192 196297192 single base substitution T G intron_variant PACA-CA 3 196299668 196299668 single base substitution T C intron_variant PACA-CA 3 196302865 196302865 single base substitution G A intron_variant PACA-CA 3 196303028 196303028 single base substitution G A intron_variant PACA-CA 3 196303550 196303550 single base substitution A G intron_variant PACA-CA 3 196316817 196316817 insertion of <=200bp - G downstream_gene_variant PACA-CA 3 196316880 196316880 single base substitution T A downstream_gene_variant PACA-CA 3 196318822 196318822 single base substitution G C downstream_gene_variant PAEN-IT 3 196310426 196310426 single base substitution A G intron_variant PBCA-DE 3 196311811 196311811 single base substitution A T 3_prime_UTR_variant PBCA-DE 3 196312767 196312767 single base substitution G A 3_prime_UTR_variant PRAD-CA 3 196301655 196301655 single base substitution G A intron_variant PRAD-CA 3 196307086 196307086 single base substitution C T intron_variant PRAD-CA 3 196318177 196318177 single base substitution T G downstream_gene_variant RECA-EU 3 196304186 196304186 single base substitution C T intron_variant RECA-EU 3 196310105 196310105 single base substitution G A intron_variant SKCA-BR 3 196291073 196291073 single base substitution G A upstream_gene_variant SKCA-BR 3 196291266 196291266 insertion of <=200bp - CTTCT upstream_gene_variant SKCA-BR 3 196295605 196295605 single base substitution T G 5_prime_UTR_variant SKCA-BR 3 196295707 196295707 single base substitution A G 5_prime_UTR_variant SKCA-BR 3 196295707 196295707 single base substitution A G intron_variant SKCA-BR 3 196296320 196296320 single base substitution C T intron_variant SKCA-BR 3 196297578 196297583 deletion of <=200bp TTTTTC - intron_variant SKCA-BR 3 196308443 196308443 single base substitution C T intron_variant SKCA-BR 3 196313678 196313678 single base substitution G A 3_prime_UTR_variant SKCA-BR 3 196313851 196313851 single base substitution C T 3_prime_UTR_variant SKCA-BR 3 196318540 196318540 single base substitution G A downstream_gene_variant SKCA-BR 3 196318984 196318984 single base substitution A C downstream_gene_variant SKCA-BR 3 196320287 196320287 single base substitution C T downstream_gene_variant STAD-US 3 196304328 196304328 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant STAD-US 3 196304328 196304328 single base substitution G A missense_variant R108H 323G>A STAD-US 3 196304666 196304666 single base substitution G A missense_variant A221T 661G>A STAD-US 3 196304666 196304666 single base substitution G A missense_variant A42T 124G>A STAD-US 3 196311019 196311019 single base substitution C T stop_gained R231* 691C>T STAD-US 3 196311019 196311019 single base substitution C T stop_gained R52* 154C>T UCEC-US 3 196304406 196304406 single base substitution G A 5_prime_UTR_variant UCEC-US 3 196304406 196304406 single base substitution G A missense_variant R134Q 401G>A UCEC-US 3 196311117 196311117 single base substitution C A stop_gained Y263* 789C>A UCEC-US 3 196311117 196311117 single base substitution C A stop_gained Y84* 252C>A UCEC-US 3 196311172 196311172 single base substitution A C missense_variant K103Q 307A>C UCEC-US 3 196311172 196311172 single base substitution A C missense_variant K282Q 844A>C

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand T263 COSM4684017 c.402A>G p.R134R Substitution - coding silent 3:196577536-196577536 + TCGA-AG-A002-01 COSM260905 c.717G>T p.K239N Substitution - Missense 3:196584174-196584174 + HCT116 COSM2947431 c.824T>C p.V275A Substitution - Missense 3:196584281-196584281 + TCGA-BS-A0UV-01 COSM1043050 c.401G>A p.R134Q Substitution - Missense 3:196577535-196577535 + 587376 COSM1206859 c.160T>C p.S54P Substitution - Missense 3:196569144-196569144 + CSCC-7-T COSM4507481 c.747C>A p.F249L Substitution - Missense 3:196584204-196584204 + TCGA-AA-A010-01 COSM281098 c.686G>T p.R229I Substitution - Missense 3:196584143-196584143 + HN_62756 COSM123126 c.856G>A p.G286R Substitution - Missense 3:196584313-196584313 + TCGA-NH-A6GB-01 COSM5184846 c.52_53insGCG p.G21_A22insG Insertion - In frame 3:196569036-196569037 + T12 COSM5000256 c.805G>A p.V269I Substitution - Missense 3:196584262-196584262 + CSCC-11-T COSM4528595 c.154G>A p.E52K Substitution - Missense 3:196569138-196569138 + T2197 COSM4684018 c.750delG p.V252fs*24 Deletion - Frameshift 3:196584207-196584207 + OSCC-GB_00690111 COSM4886949 c.152T>C p.L51P Substitution - Missense 3:196569136-196569136 + T3668 COSM4684016 c.278G>A p.R93H Substitution - Missense 3:196569262-196569262 + MZ7-mel COSM22079 c.703G>A p.D235N Substitution - Missense 3:196584160-196584160 + TCGA-AP-A059-01 COSM1043051 c.789C>A p.Y263* Substitution - Nonsense 3:196584246-196584246 + HT115 COSM2947430 c.820G>A p.E274K Substitution - Missense 3:196584277-196584277 + TCGA-66-2793-01 COSM730523 c.523A>T p.T175S Substitution - Missense 3:196577657-196577657 + TCGA-BQ-5876-01 COSM3992984 c.549A>T p.Q183H Substitution - Missense 3:196577683-196577683 + TCGA-CA-6717-01 COSM1422012 c.692G>A p.R231Q Substitution - Missense 3:196584149-196584149 + RKO COSM2947427 c.725_726insT p.E244fs*1 Insertion - Frameshift 3:196584182-196584183 + TCGA-BS-A0UF-01 COSM1043052 c.844A>C p.K282Q Substitution - Missense 3:196584301-196584301 + TCGA-FU-A3HZ-01 COSM4841280 c.720T>A p.T240T Substitution - coding silent 3:196584177-196584177 + 207T COSM1726944 c.859T>C p.*287R Nonstop extension 3:196584316-196584316 + TCGA-ES-A2HS-01 COSM4910566 c.618A>T p.L206L Substitution - coding silent 3:196577752-196577752 + TCGA-BR-6566-01 COSM4116411 c.661G>A p.A221T Substitution - Missense 3:196577795-196577795 + TCGA-BR-6452-01 COSM4116410 c.323G>A p.R108H Substitution - Missense 3:196577457-196577457 + I2L-P7-Tumor-Organoid COSM4116411 c.661G>A p.A221T Substitution - Missense 3:196577795-196577795 + AOCS-137-3-7 COSM123126 c.856G>A p.G286R Substitution - Missense 3:196584313-196584313 + LUAD-S01478 COSM399949 c.143T>C p.F48S Substitution - Missense 3:196569127-196569127 + S02093 COSM5673206 c.734G>T p.R245L Substitution - Missense 3:196584191-196584191 + TCGA-BR-8680-01 COSM4116412 c.691C>T p.R231* Substitution - Nonsense 3:196584148-196584148 + TCGA-EA-A1QT-01 COSM460822 c.660C>T p.N220N Substitution - coding silent 3:196577794-196577794 + CHC1210T COSM5348532 c.307_308insT p.Y103fs*15 Insertion - Frameshift 3:196569291-196569292 + sysucc-1072T COSM5482929 c.840T>G p.L280L Substitution - coding silent 3:196584297-196584297 + PDA_042 COSM5000256 c.805G>A p.V269I Substitution - Missense 3:196584262-196584262 + CSCC-40-T COSM2947428 c.747C>T p.F249F Substitution - coding silent 3:196584204-196584204 + 587376 COSM281098 c.686G>T p.R229I Substitution - Missense 3:196584143-196584143 + YUGATOR COSM5398961 c.519T>C p.I173I Substitution - coding silent 3:196577653-196577653 + CSCC-44-T COSM4548223 c.441G>C p.K147N Substitution - Missense 3:196577575-196577575 + LUAD-YINHD COSM350842 c.661G>T p.A221S Substitution - Missense 3:196577795-196577795 + LP6005334-DNA_C03 COSM4409467 c.320T>C p.I107T Substitution - Missense 3:196577454-196577454 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.169815 3q29 609112

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Synonymous p.E244E c.732A>G 3 196311060 LUAD A T Missense p.T175S c.523A>T 3 196304528 LUSC C T Synonymous p.S120S c.360C>T 3 196304365 CM G A Missense p.G286R c.856G>A 3 196311184 HNSC