Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 1 2338015 2338015 + Missense_Mutation SNP T T C TCGA-OR-A5JC-01A-11D-A29I-10 TCGA-OR-A5JC-10A-01D-A29L-10 g.chr1:2338015T>C c.820A>G c.(820-822)Acc>Gcc p.T274A ACC 1 2341850 2341850 + Silent SNP C C T TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr1:2341850C>T c.153G>A c.(151-153)ctG>ctA p.L51L BLCA 1 2341873 2341873 + Missense_Mutation SNP C C G TCGA-DK-AA71-01A-31D-A391-08 TCGA-DK-AA71-10A-01D-A394-08 g.chr1:2341873C>G c.130G>C c.(130-132)Gag>Cag p.E44Q BRCA 1 2340225 2340225 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 g.chr1:2340225G>A c.266C>T c.(265-267)tCg>tTg p.S89L COAD 1 2339916 2339916 + Missense_Mutation SNP G G T TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr1:2339916G>T c.575C>A c.(574-576)gCc>gAc p.A192D COAD 1 2340069 2340069 + Missense_Mutation SNP G G A TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr1:2340069G>A c.422C>T c.(421-423)gCg>gTg p.A141V COADREAD 1 2339916 2339916 + Missense_Mutation SNP G G T TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr1:2339916G>T c.575C>A c.(574-576)gCc>gAc p.A192D COADREAD 1 2340069 2340069 + Missense_Mutation SNP G G A TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr1:2340069G>A c.422C>T c.(421-423)gCg>gTg p.A141V GBMLGG 1 2340118 2340118 + Nonsense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:2340118G>A c.373C>T c.(373-375)Cga>Tga p.R125* GBMLGG 1 2343881 2343881 + Frame_Shift_Del DEL A A - TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 g.chr1:2343881delA c.61delT c.(61-63)tacfs p.Y21fs HNSC 1 2337938 2337938 + Silent SNP C C A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr1:2337938C>A c.897G>T c.(895-897)gcG>gcT p.A299A KICH 1 2341848 2341848 + Missense_Mutation SNP A A G TCGA-KN-8434-01A-11D-2310-10 TCGA-KN-8434-11A-01D-2311-10 g.chr1:2341848A>G c.155T>C c.(154-156)cTc>cCc p.L52P KIPAN 1 2340282 2340282 + Missense_Mutation SNP C C G TCGA-BQ-7059-01A-11D-1961-08 TCGA-BQ-7059-11A-01D-1961-08 g.chr1:2340282C>G c.209G>C c.(208-210)gGg>gCg p.G70A KIPAN 1 2341814 2341814 + Silent SNP A A C TCGA-HE-7130-01A-11D-1961-08 TCGA-HE-7130-10A-01D-1962-08 g.chr1:2341814A>C c.189T>G c.(187-189)ctT>ctG p.L63L KIPAN 1 2341848 2341848 + Missense_Mutation SNP A A G TCGA-KN-8434-01A-11D-2310-10 TCGA-KN-8434-11A-01D-2311-10 g.chr1:2341848A>G c.155T>C c.(154-156)cTc>cCc p.L52P KIRP 1 2340282 2340282 + Missense_Mutation SNP C C G TCGA-BQ-7059-01A-11D-1961-08 TCGA-BQ-7059-11A-01D-1961-08 g.chr1:2340282C>G c.209G>C c.(208-210)gGg>gCg p.G70A KIRP 1 2341814 2341814 + Silent SNP A A C TCGA-HE-7130-01A-11D-1961-08 TCGA-HE-7130-10A-01D-1962-08 g.chr1:2341814A>C c.189T>G c.(187-189)ctT>ctG p.L63L LGG 1 2340118 2340118 + Nonsense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:2340118G>A c.373C>T c.(373-375)Cga>Tga p.R125* LGG 1 2343881 2343881 + Frame_Shift_Del DEL A A - TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 g.chr1:2343881delA c.61delT c.(61-63)tacfs p.Y21fs LUAD 1 2339912 2339912 + Missense_Mutation SNP C C G TCGA-17-Z026-01A-01W-0746-08 TCGA-17-Z026-11A-01W-0746-08 g.chr1:2339912C>G c.579G>C c.(577-579)aaG>aaC p.K193N LUAD 1 2339978 2339978 + Silent SNP G G A TCGA-62-A46O-01A-11D-A24D-08 TCGA-62-A46O-10A-01D-A24F-08 g.chr1:2339978G>A c.513C>T c.(511-513)ctC>ctT p.L171L LUSC 1 2340172 2340172 + Missense_Mutation SNP C C G TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 g.chr1:2340172C>G c.319G>C c.(319-321)Gac>Cac p.D107H PCPG 1 2340298 2340299 + Splice_Site INS - - T TCGA-SR-A6MY-01A-11D-A35I-08 TCGA-SR-A6MY-10A-01D-A35G-08 g.chr1:2340298_2340299insT c.e3-1 PRAD 1 2340272 2340272 + Silent SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr1:2340272G>A c.219C>T c.(217-219)taC>taT p.Y73Y SKCM 1 2340004 2340004 + Missense_Mutation SNP C C G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr1:2340004C>G c.487G>C c.(487-489)Gcg>Ccg p.A163P

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BRCA-EU 1 2332028 2332028 single base substitution G C downstream_gene_variant BRCA-EU 1 2334469 2334469 single base substitution C T downstream_gene_variant BRCA-EU 1 2334554 2334554 single base substitution C T downstream_gene_variant BRCA-EU 1 2334983 2334983 single base substitution A C downstream_gene_variant BRCA-EU 1 2336825 2336835 deletion of <=200bp TGATGGGGCTG - 3_prime_UTR_variant BRCA-EU 1 2336825 2336835 deletion of <=200bp TGATGGGGCTG - downstream_gene_variant BRCA-EU 1 2337676 2337676 single base substitution G T downstream_gene_variant BRCA-EU 1 2337676 2337676 single base substitution G T intron_variant BRCA-EU 1 2340381 2340381 single base substitution G C intron_variant BRCA-EU 1 2341096 2341096 single base substitution C T intron_variant BRCA-EU 1 2341261 2341261 single base substitution C G exon_variant BRCA-EU 1 2341261 2341261 single base substitution C G intron_variant BRCA-EU 1 2341661 2341661 single base substitution C A intron_variant BRCA-EU 1 2341661 2341661 single base substitution C A upstream_gene_variant BRCA-EU 1 2342241 2342241 single base substitution C A exon_variant BRCA-EU 1 2342241 2342241 single base substitution C A intron_variant BRCA-EU 1 2342241 2342241 single base substitution C A upstream_gene_variant BRCA-EU 1 2343618 2343618 single base substitution G A intron_variant BRCA-EU 1 2343618 2343618 single base substitution G A upstream_gene_variant BRCA-EU 1 2344324 2344324 single base substitution T C intron_variant BRCA-EU 1 2344324 2344324 single base substitution T C upstream_gene_variant BRCA-EU 1 2344495 2344495 single base substitution C G intron_variant BRCA-EU 1 2344495 2344495 single base substitution C G upstream_gene_variant BRCA-EU 1 2345018 2345018 single base substitution G C intron_variant BRCA-EU 1 2345018 2345018 single base substitution G C upstream_gene_variant BRCA-EU 1 2345165 2345165 single base substitution C G 5_prime_UTR_variant BRCA-EU 1 2345165 2345165 single base substitution C G upstream_gene_variant BRCA-EU 1 2345715 2345715 single base substitution C T upstream_gene_variant BRCA-EU 1 2348242 2348242 single base substitution G A upstream_gene_variant BRCA-EU 1 2348267 2348267 single base substitution G A upstream_gene_variant BRCA-EU 1 2349007 2349007 single base substitution G A upstream_gene_variant BRCA-FR 1 2341261 2341261 single base substitution C G exon_variant BRCA-FR 1 2341261 2341261 single base substitution C G intron_variant BRCA-US 1 2340225 2340225 single base substitution G A 3_prime_UTR_variant BRCA-US 1 2340225 2340225 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant BRCA-US 1 2340225 2340225 single base substitution G A exon_variant BRCA-US 1 2340225 2340225 single base substitution G A missense_variant S89L 266C>T BTCA-JP 1 2333707 2333707 single base substitution G A downstream_gene_variant CLLE-ES 1 2340271 2340271 single base substitution C T 3_prime_UTR_variant CLLE-ES 1 2340271 2340271 single base substitution C T 5_prime_UTR_variant CLLE-ES 1 2340271 2340271 single base substitution C T exon_variant CLLE-ES 1 2340271 2340271 single base substitution C T missense_variant V74I 220G>A COAD-US 1 2337996 2337996 single base substitution C T 3_prime_UTR_variant COAD-US 1 2337996 2337996 single base substitution C T downstream_gene_variant COAD-US 1 2337996 2337996 single base substitution C T missense_variant R280H 839G>A COAD-US 1 2337996 2337996 single base substitution C T missense_variant R300H 899G>A COAD-US 1 2339916 2339916 single base substitution G T downstream_gene_variant COAD-US 1 2339916 2339916 single base substitution G T exon_variant COAD-US 1 2339916 2339916 single base substitution G T missense_variant A192D 575C>A COAD-US 1 2340069 2340069 single base substitution G A 3_prime_UTR_variant COAD-US 1 2340069 2340069 single base substitution G A 5_prime_UTR_variant COAD-US 1 2340069 2340069 single base substitution G A downstream_gene_variant COAD-US 1 2340069 2340069 single base substitution G A exon_variant COAD-US 1 2340069 2340069 single base substitution G A missense_variant A141V 422C>T COCA-CN 1 2332706 2332706 single base substitution C T downstream_gene_variant COCA-CN 1 2332995 2332995 single base substitution G A downstream_gene_variant COCA-CN 1 2333806 2333806 single base substitution G A downstream_gene_variant COCA-CN 1 2337202 2337202 single base substitution G A 3_prime_UTR_variant COCA-CN 1 2337202 2337202 single base substitution G A downstream_gene_variant ESAD-UK 1 2332234 2332234 single base substitution A G downstream_gene_variant ESAD-UK 1 2335859 2335859 single base substitution G A downstream_gene_variant ESAD-UK 1 2337938 2337938 single base substitution C T downstream_gene_variant ESAD-UK 1 2337938 2337938 single base substitution C T synonymous_variant A299A 897G>A ESAD-UK 1 2337938 2337938 single base substitution C T synonymous_variant A319A 957G>A ESAD-UK 1 2339264 2339264 single base substitution C G downstream_gene_variant ESAD-UK 1 2339264 2339264 single base substitution C G intron_variant ESAD-UK 1 2344102 2344102 single base substitution C G intron_variant ESAD-UK 1 2344102 2344102 single base substitution C G upstream_gene_variant ESAD-UK 1 2348373 2348373 single base substitution C T upstream_gene_variant ESAD-UK 1 2349403 2349403 single base substitution G A upstream_gene_variant ESCA-CN 1 2340227 2340227 single base substitution G T 3_prime_UTR_variant ESCA-CN 1 2340227 2340227 single base substitution G T 5_prime_UTR_variant ESCA-CN 1 2340227 2340227 single base substitution G T exon_variant ESCA-CN 1 2340227 2340227 single base substitution G T synonymous_variant S88S 264C>A KIRC-US 1 2333758 2333758 single base substitution A G downstream_gene_variant KIRP-US 1 2332308 2332308 single base substitution C G downstream_gene_variant KIRP-US 1 2340282 2340282 single base substitution C G 3_prime_UTR_variant KIRP-US 1 2340282 2340282 single base substitution C G 5_prime_UTR_variant KIRP-US 1 2340282 2340282 single base substitution C G exon_variant KIRP-US 1 2340282 2340282 single base substitution C G missense_variant G70A 209G>C KIRP-US 1 2341814 2341814 single base substitution A C 3_prime_UTR_variant KIRP-US 1 2341814 2341814 single base substitution A C 5_prime_UTR_premature_start_codon_gain_variant KIRP-US 1 2341814 2341814 single base substitution A C exon_variant KIRP-US 1 2341814 2341814 single base substitution A C synonymous_variant L63L 189T>G KIRP-US 1 2341814 2341814 single base substitution A C upstream_gene_variant LAML-KR 1 2338102 2338102 single base substitution G C downstream_gene_variant LAML-KR 1 2338102 2338102 single base substitution G C intron_variant LAML-KR 1 2338126 2338126 single base substitution C A downstream_gene_variant LAML-KR 1 2338126 2338126 single base substitution C A intron_variant LICA-FR 1 2342897 2342897 single base substitution C A intron_variant LICA-FR 1 2342897 2342897 single base substitution C A upstream_gene_variant LICA-FR 1 2345854 2345854 single base substitution C T upstream_gene_variant LIHC-US 1 2337963 2337963 single base substitution A G 3_prime_UTR_variant LIHC-US 1 2337963 2337963 single base substitution A G downstream_gene_variant LIHC-US 1 2337963 2337963 single base substitution A G missense_variant L291P 872T>C LIHC-US 1 2337963 2337963 single base substitution A G missense_variant L311P 932T>C LINC-JP 1 2333750 2333750 single base substitution T C downstream_gene_variant LINC-JP 1 2338541 2338541 single base substitution G A downstream_gene_variant LINC-JP 1 2338541 2338541 single base substitution G A intron_variant LINC-JP 1 2338548 2338548 single base substitution G C downstream_gene_variant LINC-JP 1 2338548 2338548 single base substitution G C intron_variant LINC-JP 1 2342212 2342212 single base substitution C A exon_variant LINC-JP 1 2342212 2342212 single base substitution C A intron_variant LINC-JP 1 2342212 2342212 single base substitution C A upstream_gene_variant LIRI-JP 1 2331849 2331849 single base substitution G A downstream_gene_variant LIRI-JP 1 2334081 2334081 single base substitution C T downstream_gene_variant LIRI-JP 1 2334451 2334451 insertion of <=200bp - T downstream_gene_variant LIRI-JP 1 2335497 2335497 single base substitution T C downstream_gene_variant LIRI-JP 1 2336315 2336315 single base substitution A G 3_prime_UTR_variant LIRI-JP 1 2336315 2336315 single base substitution A G downstream_gene_variant LIRI-JP 1 2336589 2336597 deletion of <=200bp GTGTGTGCC - 3_prime_UTR_variant LIRI-JP 1 2336589 2336597 deletion of <=200bp GTGTGTGCC - downstream_gene_variant LIRI-JP 1 2345102 2345102 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant LIRI-JP 1 2345102 2345102 single base substitution C A upstream_gene_variant LIRI-JP 1 2345321 2345321 single base substitution C G upstream_gene_variant LIRI-JP 1 2345549 2345549 single base substitution A G upstream_gene_variant LIRI-JP 1 2346155 2346155 single base substitution C T upstream_gene_variant LIRI-JP 1 2349777 2349777 single base substitution G A upstream_gene_variant LUSC-KR 1 2337032 2337032 single base substitution C T 3_prime_UTR_variant LUSC-KR 1 2337032 2337032 single base substitution C T downstream_gene_variant LUSC-KR 1 2344176 2344176 single base substitution G T intron_variant LUSC-KR 1 2344176 2344176 single base substitution G T upstream_gene_variant LUSC-US 1 2340172 2340172 single base substitution C G 3_prime_UTR_variant LUSC-US 1 2340172 2340172 single base substitution C G 5_prime_UTR_variant LUSC-US 1 2340172 2340172 single base substitution C G downstream_gene_variant LUSC-US 1 2340172 2340172 single base substitution C G exon_variant LUSC-US 1 2340172 2340172 single base substitution C G missense_variant D107H 319G>C MALY-DE 1 2338126 2338126 single base substitution C A downstream_gene_variant MALY-DE 1 2338126 2338126 single base substitution C A intron_variant MALY-DE 1 2341602 2341602 single base substitution G A intron_variant MALY-DE 1 2341602 2341602 single base substitution G A upstream_gene_variant MALY-DE 1 2341603 2341603 single base substitution G T intron_variant MALY-DE 1 2341603 2341603 single base substitution G T upstream_gene_variant MALY-DE 1 2342816 2342816 single base substitution C T intron_variant MALY-DE 1 2342816 2342816 single base substitution C T upstream_gene_variant MALY-DE 1 2346866 2346866 single base substitution G A upstream_gene_variant MELA-AU 1 2331280 2331280 single base substitution C T downstream_gene_variant MELA-AU 1 2331828 2331828 single base substitution C T downstream_gene_variant MELA-AU 1 2332429 2332429 single base substitution C T downstream_gene_variant MELA-AU 1 2333020 2333020 single base substitution C T downstream_gene_variant MELA-AU 1 2333530 2333530 single base substitution C T downstream_gene_variant MELA-AU 1 2334091 2334091 single base substitution G A downstream_gene_variant MELA-AU 1 2334158 2334158 single base substitution G T downstream_gene_variant MELA-AU 1 2334673 2334673 single base substitution T C downstream_gene_variant MELA-AU 1 2335616 2335616 single base substitution G A downstream_gene_variant MELA-AU 1 2335716 2335716 single base substitution C T downstream_gene_variant MELA-AU 1 2335881 2335881 single base substitution G A downstream_gene_variant MELA-AU 1 2336034 2336034 single base substitution C T downstream_gene_variant MELA-AU 1 2338025 2338025 single base substitution G A 3_prime_UTR_variant MELA-AU 1 2338025 2338025 single base substitution G A downstream_gene_variant MELA-AU 1 2338025 2338025 single base substitution G A synonymous_variant N270N 810C>T MELA-AU 1 2338025 2338025 single base substitution G A synonymous_variant N290N 870C>T MELA-AU 1 2339140 2339140 single base substitution G A downstream_gene_variant MELA-AU 1 2339140 2339140 single base substitution G A intron_variant MELA-AU 1 2340068 2340068 single base substitution C T 3_prime_UTR_variant MELA-AU 1 2340068 2340068 single base substitution C T 5_prime_UTR_variant MELA-AU 1 2340068 2340068 single base substitution C T downstream_gene_variant MELA-AU 1 2340068 2340068 single base substitution C T exon_variant MELA-AU 1 2340068 2340068 single base substitution C T synonymous_variant A141A 423G>A MELA-AU 1 2340129 2340129 single base substitution G A 3_prime_UTR_variant MELA-AU 1 2340129 2340129 single base substitution G A 5_prime_UTR_variant MELA-AU 1 2340129 2340129 single base substitution G A downstream_gene_variant MELA-AU 1 2340129 2340129 single base substitution G A exon_variant MELA-AU 1 2340129 2340129 single base substitution G A missense_variant P121L 362C>T MELA-AU 1 2340521 2340521 single base substitution T C intron_variant MELA-AU 1 2340740 2340741 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 2340894 2340894 single base substitution G A intron_variant MELA-AU 1 2341091 2341091 single base substitution G A intron_variant MELA-AU 1 2341199 2341199 single base substitution G A exon_variant MELA-AU 1 2341199 2341199 single base substitution G A intron_variant MELA-AU 1 2341401 2341401 single base substitution G A exon_variant MELA-AU 1 2341401 2341401 single base substitution G A intron_variant MELA-AU 1 2341806 2341806 single base substitution C T 3_prime_UTR_variant MELA-AU 1 2341806 2341806 single base substitution C T splice_region_variant MELA-AU 1 2341806 2341806 single base substitution C T upstream_gene_variant MELA-AU 1 2341917 2341917 single base substitution G A intron_variant MELA-AU 1 2341917 2341917 single base substitution G A upstream_gene_variant MELA-AU 1 2341921 2341921 single base substitution A G intron_variant MELA-AU 1 2341921 2341921 single base substitution A G upstream_gene_variant MELA-AU 1 2342019 2342019 single base substitution C T intron_variant MELA-AU 1 2342019 2342019 single base substitution C T upstream_gene_variant MELA-AU 1 2342105 2342105 single base substitution C T 3_prime_UTR_variant MELA-AU 1 2342105 2342105 single base substitution C T exon_variant MELA-AU 1 2342105 2342105 single base substitution C T intron_variant MELA-AU 1 2342105 2342105 single base substitution C T upstream_gene_variant MELA-AU 1 2342662 2342662 single base substitution G A intron_variant MELA-AU 1 2342662 2342662 single base substitution G A upstream_gene_variant MELA-AU 1 2342738 2342738 single base substitution G A intron_variant MELA-AU 1 2342738 2342738 single base substitution G A upstream_gene_variant MELA-AU 1 2342770 2342770 single base substitution G A intron_variant MELA-AU 1 2342770 2342770 single base substitution G A upstream_gene_variant MELA-AU 1 2343187 2343187 single base substitution G A intron_variant MELA-AU 1 2343187 2343187 single base substitution G A upstream_gene_variant MELA-AU 1 2343199 2343199 single base substitution A G intron_variant MELA-AU 1 2343199 2343199 single base substitution A G upstream_gene_variant MELA-AU 1 2343458 2343458 single base substitution G A intron_variant MELA-AU 1 2343458 2343458 single base substitution G A upstream_gene_variant MELA-AU 1 2343536 2343537 multiple base substitution (>=2bp and <=200bp) TC AA intron_variant MELA-AU 1 2343536 2343537 multiple base substitution (>=2bp and <=200bp) TC AA upstream_gene_variant MELA-AU 1 2343712 2343713 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 2343712 2343713 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 2344070 2344070 single base substitution G A intron_variant MELA-AU 1 2344070 2344070 single base substitution G A upstream_gene_variant MELA-AU 1 2344673 2344673 single base substitution G A intron_variant MELA-AU 1 2344673 2344673 single base substitution G A upstream_gene_variant MELA-AU 1 2344943 2344943 single base substitution G A intron_variant MELA-AU 1 2344943 2344943 single base substitution G A upstream_gene_variant MELA-AU 1 2344945 2344945 single base substitution A T intron_variant MELA-AU 1 2344945 2344945 single base substitution A T upstream_gene_variant MELA-AU 1 2345467 2345468 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 2345558 2345558 single base substitution G A upstream_gene_variant MELA-AU 1 2345572 2345572 single base substitution C T upstream_gene_variant MELA-AU 1 2346083 2346083 single base substitution G A upstream_gene_variant MELA-AU 1 2346835 2346835 single base substitution C T upstream_gene_variant MELA-AU 1 2347455 2347455 single base substitution C T upstream_gene_variant MELA-AU 1 2347467 2347467 single base substitution C T upstream_gene_variant MELA-AU 1 2347770 2347770 single base substitution C T upstream_gene_variant MELA-AU 1 2348041 2348041 single base substitution G A upstream_gene_variant MELA-AU 1 2348377 2348377 single base substitution G A upstream_gene_variant MELA-AU 1 2348538 2348538 single base substitution C T upstream_gene_variant MELA-AU 1 2348553 2348553 single base substitution C T upstream_gene_variant MELA-AU 1 2348581 2348581 single base substitution C T upstream_gene_variant MELA-AU 1 2348592 2348592 single base substitution G A upstream_gene_variant MELA-AU 1 2348717 2348717 single base substitution C T upstream_gene_variant MELA-AU 1 2348890 2348890 single base substitution G A upstream_gene_variant MELA-AU 1 2348971 2348971 single base substitution G A upstream_gene_variant MELA-AU 1 2349009 2349009 single base substitution C T upstream_gene_variant MELA-AU 1 2349147 2349147 single base substitution C T upstream_gene_variant MELA-AU 1 2349469 2349469 single base substitution C T upstream_gene_variant MELA-AU 1 2349571 2349571 single base substitution C T upstream_gene_variant MELA-AU 1 2349588 2349588 single base substitution C T upstream_gene_variant MELA-AU 1 2349811 2349811 single base substitution G A upstream_gene_variant MELA-AU 1 2349885 2349885 single base substitution C T upstream_gene_variant MELA-AU 1 2350040 2350040 single base substitution G A upstream_gene_variant MELA-AU 1 2350113 2350113 single base substitution C T upstream_gene_variant MELA-AU 1 2350122 2350122 single base substitution C T upstream_gene_variant ORCA-IN 1 2332313 2332313 single base substitution C T downstream_gene_variant ORCA-IN 1 2334772 2334772 single base substitution C G downstream_gene_variant ORCA-IN 1 2340188 2340188 single base substitution G C 3_prime_UTR_variant ORCA-IN 1 2340188 2340188 single base substitution G C 5_prime_UTR_variant ORCA-IN 1 2340188 2340188 single base substitution G C downstream_gene_variant ORCA-IN 1 2340188 2340188 single base substitution G C exon_variant ORCA-IN 1 2340188 2340188 single base substitution G C synonymous_variant V101V 303C>G OV-AU 1 2333108 2333108 single base substitution T C downstream_gene_variant OV-AU 1 2334911 2334911 single base substitution G C downstream_gene_variant OV-AU 1 2341702 2341702 single base substitution G A intron_variant OV-AU 1 2341702 2341702 single base substitution G A splice_region_variant OV-AU 1 2341702 2341702 single base substitution G A upstream_gene_variant OV-AU 1 2345340 2345340 single base substitution C T upstream_gene_variant OV-AU 1 2347507 2347507 single base substitution A G upstream_gene_variant OV-AU 1 2349380 2349380 single base substitution G T upstream_gene_variant PACA-AU 1 2335257 2335257 single base substitution C T downstream_gene_variant PACA-AU 1 2336701 2336701 single base substitution A G 3_prime_UTR_variant PACA-AU 1 2336701 2336701 single base substitution A G downstream_gene_variant PACA-AU 1 2340721 2340721 single base substitution C A intron_variant PACA-AU 1 2347838 2347838 insertion of <=200bp - GGACA upstream_gene_variant PACA-CA 1 2334070 2334070 single base substitution G A downstream_gene_variant PACA-CA 1 2334426 2334426 single base substitution G C downstream_gene_variant PACA-CA 1 2336014 2336014 single base substitution A C downstream_gene_variant PACA-CA 1 2337939 2337939 single base substitution G A downstream_gene_variant PACA-CA 1 2337939 2337939 single base substitution G A missense_variant A299V 896C>T PACA-CA 1 2337939 2337939 single base substitution G A missense_variant A319V 956C>T PACA-CA 1 2337964 2337964 single base substitution G C 3_prime_UTR_variant PACA-CA 1 2337964 2337964 single base substitution G C downstream_gene_variant PACA-CA 1 2337964 2337964 single base substitution G C missense_variant L291V 871C>G PACA-CA 1 2337964 2337964 single base substitution G C missense_variant L311V 931C>G PACA-CA 1 2337996 2337996 single base substitution C T 3_prime_UTR_variant PACA-CA 1 2337996 2337996 single base substitution C T downstream_gene_variant PACA-CA 1 2337996 2337996 single base substitution C T missense_variant R280H 839G>A PACA-CA 1 2337996 2337996 single base substitution C T missense_variant R300H 899G>A PACA-CA 1 2339243 2339243 single base substitution C T downstream_gene_variant PACA-CA 1 2339243 2339243 single base substitution C T intron_variant PACA-CA 1 2341219 2341219 single base substitution C T exon_variant PACA-CA 1 2341219 2341219 single base substitution C T intron_variant PACA-CA 1 2347536 2347536 single base substitution G C upstream_gene_variant PACA-CA 1 2348881 2348881 single base substitution C T upstream_gene_variant PACA-CA 1 2349050 2349050 single base substitution G A upstream_gene_variant PBCA-DE 1 2345571 2345571 single base substitution C A upstream_gene_variant PBCA-DE 1 2347097 2347097 single base substitution G A upstream_gene_variant PRAD-UK 1 2348365 2348365 insertion of <=200bp - G upstream_gene_variant SKCA-BR 1 2332675 2332675 single base substitution C T downstream_gene_variant SKCA-BR 1 2335676 2335676 single base substitution A G downstream_gene_variant SKCA-BR 1 2336347 2336347 single base substitution G A 3_prime_UTR_variant SKCA-BR 1 2336347 2336347 single base substitution G A downstream_gene_variant SKCA-BR 1 2338616 2338616 single base substitution G A downstream_gene_variant SKCA-BR 1 2338616 2338616 single base substitution G A intron_variant SKCA-BR 1 2340104 2340104 single base substitution C G 3_prime_UTR_variant SKCA-BR 1 2340104 2340104 single base substitution C G 5_prime_UTR_variant SKCA-BR 1 2340104 2340104 single base substitution C G downstream_gene_variant SKCA-BR 1 2340104 2340104 single base substitution C G exon_variant SKCA-BR 1 2340104 2340104 single base substitution C G synonymous_variant G129G 387G>C SKCA-BR 1 2340344 2340344 single base substitution G A intron_variant SKCA-BR 1 2343956 2343956 single base substitution G A 5_prime_UTR_variant SKCA-BR 1 2343956 2343956 single base substitution G A intron_variant SKCA-BR 1 2343956 2343956 single base substitution G A upstream_gene_variant SKCA-BR 1 2347540 2347540 single base substitution C T upstream_gene_variant SKCA-BR 1 2348426 2348426 single base substitution G A upstream_gene_variant SKCM-US 1 2332314 2332314 single base substitution C T downstream_gene_variant SKCM-US 1 2340004 2340004 single base substitution C G downstream_gene_variant SKCM-US 1 2340004 2340004 single base substitution C G exon_variant SKCM-US 1 2340004 2340004 single base substitution C G missense_variant A163P 487G>C SKCM-US 1 2340004 2340004 single base substitution C G missense_variant A19P 55G>C STAD-US 1 2334500 2334500 single base substitution G A downstream_gene_variant STAD-US 1 2337210 2337210 single base substitution G A downstream_gene_variant STAD-US 1 2337210 2337210 single base substitution G A missense_variant R324C 970C>T STAD-US 1 2337210 2337210 single base substitution G A missense_variant R326C 976C>T STAD-US 1 2337210 2337210 single base substitution G A missense_variant R346C 1036C>T STAD-US 1 2338237 2338237 single base substitution C T 3_prime_UTR_variant STAD-US 1 2338237 2338237 single base substitution C T downstream_gene_variant STAD-US 1 2338237 2338237 single base substitution C T missense_variant G233E 698G>A STAD-US 1 2338237 2338237 single base substitution C T missense_variant G253E 758G>A THCA-SA 1 2335890 2335890 single base substitution C T downstream_gene_variant THCA-US 1 2334476 2334476 single base substitution C T downstream_gene_variant THCA-US 1 2341873 2341873 single base substitution C G 3_prime_UTR_variant THCA-US 1 2341873 2341873 single base substitution C G 5_prime_UTR_variant THCA-US 1 2341873 2341873 single base substitution C G exon_variant THCA-US 1 2341873 2341873 single base substitution C G missense_variant E44Q 130G>C THCA-US 1 2341873 2341873 single base substitution C G upstream_gene_variant UCEC-US 1 2333698 2333698 single base substitution G A downstream_gene_variant UCEC-US 1 2334500 2334500 single base substitution G A downstream_gene_variant UCEC-US 1 2338299 2338299 single base substitution C T 3_prime_UTR_variant UCEC-US 1 2338299 2338299 single base substitution C T downstream_gene_variant UCEC-US 1 2338299 2338299 single base substitution C T synonymous_variant R212R 636G>A UCEC-US 1 2338299 2338299 single base substitution C T synonymous_variant R232R 696G>A UCEC-US 1 2339889 2339889 single base substitution A G downstream_gene_variant UCEC-US 1 2339889 2339889 single base substitution A G splice_donor_variant UCEC-US 1 2339889 2339889 single base substitution A G splice_region_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand T3118 COSM4713652 c.267G>A p.S89S Substitution - coding silent 1:2408785-2408785 - TCGA-EL-A3H7-01 COSM3369615 c.130G>C p.E44Q Substitution - Missense 1:2410434-2410434 - TCGA-HU-A4HD-01 COSM4029665 c.758G>A p.G253E Substitution - Missense 1:2406798-2406798 - S02352 COSM5669459 c.112+2T>G p.? Unknown 1:2412389-2412389 - cSCCP4 COSM138172 c.832C>T p.R278C Substitution - Missense 1:2406724-2406724 - QC2-39-T2 COSM5655364 c.624C>T p.L208L Substitution - coding silent 1:2406932-2406932 - HSJD_DIPG002 COSM4746233 c.320A>G p.D107G Substitution - Missense 1:2408732-2408732 - pfg120T COSM4748660 c.664C>T p.R222C Substitution - Missense 1:2406892-2406892 - TCGA-AD-5900-01 COSM3377040 c.899G>A p.R300H Substitution - Missense 1:2406557-2406557 - TCGA-AB-2840-03 COSM1317560 c.318G>A p.L106L Substitution - coding silent 1:2408734-2408734 - TCGA-GN-A266-06 COSM1999665 c.487G>C p.A163P Substitution - Missense 1:2408565-2408565 - 585272 COSM326122 c.671G>T p.R224L Substitution - Missense 1:2406885-2406885 - TCGA-AD-6895-01 COSM1340264 c.422C>T p.A141V Substitution - Missense 1:2408630-2408630 - TCGA-HE-7130-01 COSM3984850 c.189T>G p.L63L Substitution - coding silent 1:2410375-2410375 - C086 COSM5536930 c.982C>T p.P328S Substitution - Missense 1:2405825-2405825 - pfg043T COSM4748662 c.227T>A p.I76N Substitution - Missense 1:2408825-2408825 - T80 COSM1177947 c.219C>T p.Y73Y Substitution - coding silent 1:2408833-2408833 - 785-1836-01TD COSM145773 c.220G>A p.V74I Substitution - Missense 1:2408832-2408832 - PCSI_0085_Pa_X COSM3377040 c.899G>A p.R300H Substitution - Missense 1:2406557-2406557 - 381 COSM4426403 c.514G>A p.A172T Substitution - Missense 1:2408538-2408538 - S01542 COSM5669459 c.112+2T>G p.? Unknown 1:2412389-2412389 - 587256 COSM1220211 c.247C>T p.R83W Substitution - Missense 1:2408805-2408805 - OSCC-GB_00200111 COSM3711274 c.303C>G p.V101V Substitution - coding silent 1:2408749-2408749 - TCGA-G4-6586-01 COSM1340263 c.575C>A p.A192D Substitution - Missense 1:2408477-2408477 - YUKSI COSM5380136 c.183C>T p.T61T Substitution - coding silent 1:2410381-2410381 - PCSI_0085_Pa_P_526 COSM3377040 c.899G>A p.R300H Substitution - Missense 1:2406557-2406557 - 2492730 COSM5728180 c.871C>T p.P291S Substitution - Missense 1:2406585-2406585 - Br27P COSM40456 c.394G>A p.G132R Substitution - Missense 1:2408658-2408658 - TCGA-EP-A12J-01 COSM4926612 c.932T>C p.L311P Substitution - Missense 1:2406524-2406524 - PCSI_0083_Pa_P_526 COSM3785198 c.956C>T p.A319V Substitution - Missense 1:2406500-2406500 - ESCC-153T COSM3934562 c.264C>A p.S88S Substitution - coding silent 1:2408788-2408788 - ESO-0292 COSM1241571 c.158C>A p.S53* Substitution - Nonsense 1:2410406-2410406 - TCGA-CG-5721-01 COSM4029647 c.1036C>T p.R346C Substitution - Missense 1:2405771-2405771 - 1_PRE-TREATMENT COSM1719978 c.273C>T p.R91R Substitution - coding silent 1:2408779-2408779 - TCGA-AP-A0LM-01 COSM905713 c.600+2T>C p.? Unknown 1:2408450-2408450 - 855_PT COSM5754389 c.773G>A p.G258D Substitution - Missense 1:2406783-2406783 - TCGA-37-3789-01 COSM679027 c.319G>C p.D107H Substitution - Missense 1:2408733-2408733 - 1_RESISTANT COSM1719978 c.273C>T p.R91R Substitution - coding silent 1:2408779-2408779 - TCGA-E2-A10C-01 COSM425616 c.266C>T p.S89L Substitution - Missense 1:2408786-2408786 - C135 COSM4617360 c.428G>A p.R143H Substitution - Missense 1:2408624-2408624 - 99 COSM5013853 c.157T>A p.S53T Substitution - Missense 1:2410407-2410407 - PCSI_0085_Pa_P COSM3377040 c.899G>A p.R300H Substitution - Missense 1:2406557-2406557 - TCGA-BQ-7059-01 COSM3984849 c.209G>C p.G70A Substitution - Missense 1:2408843-2408843 - 785 COSM145773 c.220G>A p.V74I Substitution - Missense 1:2408832-2408832 - ME043T COSM228246 c.52G>A p.D18N Substitution - Missense 1:2412451-2412451 - RMS112_ COSM4987735 c.880A>G p.T294A Substitution - Missense 1:2406576-2406576 - pfg181T COSM4748661 c.406C>T p.R136C Substitution - Missense 1:2408646-2408646 - YULAD COSM1999666 c.363C>T p.P121P Substitution - coding silent 1:2408689-2408689 - T2940 COSM4713651 c.280G>A p.V94M Substitution - Missense 1:2408772-2408772 - SNU-175 COSM4650313 c.645G>A p.A215A Substitution - coding silent 1:2406911-2406911 - TCGA-AP-A059-01 COSM905708 c.696G>A p.R232R Substitution - coding silent 1:2406860-2406860 - 20T COSM3711274 c.303C>G p.V101V Substitution - coding silent 1:2408749-2408749 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.732226;Hs.732227;Hs.732228 1p36.32 602859 2424297|CGAP|BC000543|A/G|non-coding||1241|Validated; 2424297|CGAP|BC018198|A/G|non-coding||1204|Validated; 2424299|CGAP|BC000543|A/G|coding|Thr97Thr|318|Validated; 2424299|CGAP|BC018198|A/G|coding|Thr97Thr|341|Validated; 1518287|dbSNP|BC000543|A/G|non-coding||1241|Candidate; 1518287|dbSNP|BC018198|A/G|non-coding||1204|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer C A Missense p.R224L c.671G>T 1 2338324 SCLC C G Missense p.D107H c.319G>C 1 2340172 LUSC C G Missense p.E44Q c.130G>C 1 2341873 THCA C G Missense p.K193N c.579G>C 1 2339912 LUAD C T Missense p.V74I c.220G>A 1 2340271 CLL G A Missense p.G132R c.394G>A 1 2340097 GBM G A Synonymous p.Y189Y c.567C>T 1 2339924 CM