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 1 207222498 207222498 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 g.chr1:207222498C>G c.914G>C c.(913-915)aGa>aCa p.R305T BRCA 1 207222861 207222861 + Missense_Mutation SNP C C A TCGA-AO-A128-01A-11D-A10M-09 TCGA-AO-A128-10A-01D-A10M-09 g.chr1:207222861C>A c.551G>T c.(550-552)cGc>cTc p.R184L CESC 1 207222842 207222842 + Silent SNP T T A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 g.chr1:207222842T>A c.570A>T c.(568-570)gtA>gtT p.V190V CHOL 1 207223000 207223000 + Missense_Mutation SNP C C A TCGA-W5-AA38-01A-11D-A417-09 TCGA-W5-AA38-10A-01D-A41A-09 g.chr1:207223000C>A c.412G>T c.(412-414)Gct>Tct p.A138S COAD 1 207222634 207222634 + Missense_Mutation SNP G G T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:207222634G>T c.778C>A c.(778-780)Ctg>Atg p.L260M COAD 1 207222915 207222915 + Missense_Mutation SNP T T C TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr1:207222915T>C c.497A>G c.(496-498)tAc>tGc p.Y166C COAD 1 207224147 207224147 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr1:207224147C>T c.229G>A c.(229-231)Gcc>Acc p.A77T COADREAD 1 207222634 207222634 + Missense_Mutation SNP G G T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:207222634G>T c.778C>A c.(778-780)Ctg>Atg p.L260M COADREAD 1 207222915 207222915 + Missense_Mutation SNP T T C TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr1:207222915T>C c.497A>G c.(496-498)tAc>tGc p.Y166C COADREAD 1 207224147 207224147 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr1:207224147C>T c.229G>A c.(229-231)Gcc>Acc p.A77T ESCA 1 207222508 207222510 + In_Frame_Del DEL CTG CTG - TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 g.chr1:207222508_207222510delCTG c.902_904delCAG c.(901-906)gcagat>gat p.A301del GBM 1 207224090 207224090 + Missense_Mutation SNP C C T TCGA-28-5204-01A-01D-1486-08 TCGA-28-5204-10A-01D-1486-08 g.chr1:207224090C>T c.286G>A c.(286-288)Gag>Aag p.E96K GBMLGG 1 207224090 207224090 + Missense_Mutation SNP C C T TCGA-28-5204-01A-01D-1486-08 TCGA-28-5204-10A-01D-1486-08 g.chr1:207224090C>T c.286G>A c.(286-288)Gag>Aag p.E96K HNSC 1 207222565 207222565 + Silent SNP G G A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 g.chr1:207222565G>A c.847C>T c.(847-849)Ctg>Ttg p.L283L HNSC 1 207222672 207222672 + Missense_Mutation SNP T T C TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 g.chr1:207222672T>C c.740A>G c.(739-741)gAt>gGt p.D247G HNSC 1 207222688 207222688 + Missense_Mutation SNP G G C TCGA-CV-A45Z-01A-21D-A25D-08 TCGA-CV-A45Z-10A-01D-A25E-08 g.chr1:207222688G>C c.724C>G c.(724-726)Cag>Gag p.Q242E HNSC 1 207222726 207222726 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr1:207222726G>A c.686C>T c.(685-687)tCc>tTc p.S229F HNSC 1 207222776 207222776 + Nonsense_Mutation SNP C C T TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 g.chr1:207222776C>T c.636G>A c.(634-636)tgG>tgA p.W212* KIPAN 1 207222409 207222409 + Frame_Shift_Del DEL C C - TCGA-P4-A5E6-01A-11D-A28G-10 TCGA-P4-A5E6-11A-22D-A28G-10 g.chr1:207222409delC c.1003delG c.(1003-1005)gaafs p.E335fs KIPAN 1 207222971 207222971 + Silent SNP A A G TCGA-B4-5836-01A-11D-1669-08 TCGA-B4-5836-10A-01D-1669-08 g.chr1:207222971A>G c.441T>C c.(439-441)ccT>ccC p.P147P KIPAN 1 207222973 207222977 + Frame_Shift_Del DEL GCAAA GCAAA - TCGA-BP-4162-01A-02D-1386-10 TCGA-BP-4162-11A-01D-1251-10 g.chr1:207222973_207222977delGCAAA c.435_439delTTTGC c.(433-441)actttgcctfs p.LP146fs KIRC 1 207222971 207222971 + Silent SNP A A G TCGA-B4-5836-01A-11D-1669-08 TCGA-B4-5836-10A-01D-1669-08 g.chr1:207222971A>G c.441T>C c.(439-441)ccT>ccC p.P147P KIRC 1 207222973 207222977 + Frame_Shift_Del DEL GCAAA GCAAA - TCGA-BP-4162-01A-02D-1386-10 TCGA-BP-4162-11A-01D-1251-10 g.chr1:207222973_207222977delGCAAA c.435_439delTTTGC c.(433-441)actttgcctfs p.LP146fs KIRP 1 207222409 207222409 + Frame_Shift_Del DEL C C - TCGA-P4-A5E6-01A-11D-A28G-10 TCGA-P4-A5E6-11A-22D-A28G-10 g.chr1:207222409delC c.1003delG c.(1003-1005)gaafs p.E335fs LIHC 1 207224106 207224106 + Silent SNP G G A TCGA-G3-A25S-01A-11D-A16V-10 TCGA-G3-A25S-10A-01D-A16V-10 g.chr1:207224106G>A c.270C>T c.(268-270)ctC>ctT p.L90L LUAD 1 207222742 207222742 + Missense_Mutation SNP C C T TCGA-50-5044-01A-21D-1855-08 TCGA-50-5044-10A-01D-1855-08 g.chr1:207222742C>T c.670G>A c.(670-672)Gag>Aag p.E224K LUSC 1 207222725 207222725 + Silent SNP G G T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 g.chr1:207222725G>T c.687C>A c.(685-687)tcC>tcA p.S229S OV 1 207222580 207222580 + Missense_Mutation SNP G G T TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 g.chr1:207222580G>T c.832C>A c.(832-834)Cca>Aca p.P278T OV 1 207224211 207224211 + Missense_Mutation SNP G G C TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 g.chr1:207224211G>C c.165C>G c.(163-165)gaC>gaG p.D55E OV 1 207224218 207224218 + Missense_Mutation SNP G G C TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 g.chr1:207224218G>C c.158C>G c.(157-159)gCc>gGc p.A53G PAAD 1 207222956 207222956 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:207222956G>A c.456C>T c.(454-456)acC>acT p.T152T SARC 1 207222921 207222921 + Missense_Mutation SNP C C T TCGA-DX-A6BE-01A-41D-A32I-09 TCGA-DX-A6BE-10A-01D-A32I-09 g.chr1:207222921C>T c.491G>A c.(490-492)aGt>aAt p.S164N SKCM 1 207222387 207222387 + Missense_Mutation SNP T T C TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 g.chr1:207222387T>C c.1025A>G c.(1024-1026)cAt>cGt p.H342R SKCM 1 207222587 207222587 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:207222587G>A c.825C>T c.(823-825)ttC>ttT p.F275F

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 1 207222498 207222498 single base substitution C G missense_variant R261T 782G>C BLCA-US 1 207222498 207222498 single base substitution C G missense_variant R305T 914G>C BLCA-US 1 207228122 207228122 single base substitution T C upstream_gene_variant BRCA-EU 1 207212419 207212419 single base substitution T C downstream_gene_variant BRCA-EU 1 207212988 207212988 deletion of <=200bp A - downstream_gene_variant BRCA-EU 1 207213747 207213747 single base substitution C G downstream_gene_variant BRCA-EU 1 207214214 207214214 single base substitution G C downstream_gene_variant BRCA-EU 1 207214383 207214383 single base substitution C A downstream_gene_variant BRCA-EU 1 207214507 207214507 single base substitution C T downstream_gene_variant BRCA-EU 1 207214564 207214564 single base substitution C A downstream_gene_variant BRCA-EU 1 207214577 207214577 single base substitution T C downstream_gene_variant BRCA-EU 1 207214680 207214680 single base substitution G C downstream_gene_variant BRCA-EU 1 207214800 207214800 single base substitution A C downstream_gene_variant BRCA-EU 1 207215503 207215503 single base substitution C A downstream_gene_variant BRCA-EU 1 207216301 207216301 single base substitution G C downstream_gene_variant BRCA-EU 1 207216800 207216800 single base substitution A C downstream_gene_variant BRCA-EU 1 207220463 207220463 single base substitution C T 3_prime_UTR_variant BRCA-EU 1 207220718 207220718 single base substitution C G 3_prime_UTR_variant BRCA-EU 1 207221721 207221721 single base substitution A C 3_prime_UTR_variant BRCA-EU 1 207221776 207221776 single base substitution G T 3_prime_UTR_variant BRCA-EU 1 207222036 207222036 single base substitution T C 3_prime_UTR_variant BRCA-EU 1 207224787 207224787 single base substitution C G intron_variant BRCA-EU 1 207224787 207224787 single base substitution C G upstream_gene_variant BRCA-EU 1 207225158 207225158 single base substitution C G intron_variant BRCA-EU 1 207225158 207225158 single base substitution C G upstream_gene_variant BRCA-EU 1 207225381 207225381 single base substitution C G intron_variant BRCA-EU 1 207225381 207225381 single base substitution C G upstream_gene_variant BRCA-EU 1 207226406 207226406 single base substitution C G upstream_gene_variant BRCA-EU 1 207226854 207226854 single base substitution C T upstream_gene_variant BRCA-EU 1 207227966 207227966 single base substitution G A upstream_gene_variant BRCA-EU 1 207228744 207228744 single base substitution T C upstream_gene_variant BRCA-EU 1 207229909 207229909 single base substitution C G upstream_gene_variant BRCA-EU 1 207230048 207230048 single base substitution C G upstream_gene_variant BRCA-EU 1 207230120 207230120 single base substitution C T upstream_gene_variant BRCA-EU 1 207230588 207230588 single base substitution C T upstream_gene_variant BRCA-EU 1 207230696 207230696 single base substitution G A upstream_gene_variant BRCA-FR 1 207214507 207214507 single base substitution C T downstream_gene_variant BRCA-FR 1 207219192 207219192 single base substitution C T 3_prime_UTR_variant BRCA-FR 1 207225158 207225158 single base substitution C G intron_variant BRCA-FR 1 207225158 207225158 single base substitution C G upstream_gene_variant BRCA-FR 1 207225381 207225381 single base substitution C G intron_variant BRCA-FR 1 207225381 207225381 single base substitution C G upstream_gene_variant BRCA-FR 1 207226854 207226854 single base substitution C T upstream_gene_variant BRCA-FR 1 207228744 207228744 single base substitution T C upstream_gene_variant BRCA-UK 1 207212419 207212419 single base substitution T C downstream_gene_variant BRCA-UK 1 207230048 207230048 single base substitution C G upstream_gene_variant BRCA-US 1 207222861 207222861 single base substitution C A missense_variant R140L 419G>T BRCA-US 1 207222861 207222861 single base substitution C A missense_variant R184L 551G>T BTCA-JP 1 207224315 207224315 single base substitution C T intron_variant BTCA-JP 1 207224315 207224315 single base substitution C T missense_variant G21S 61G>A CESC-US 1 207222842 207222842 single base substitution T A synonymous_variant V146V 438A>T CESC-US 1 207222842 207222842 single base substitution T A synonymous_variant V190V 570A>T CLLE-ES 1 207216354 207216354 single base substitution G C downstream_gene_variant CLLE-ES 1 207219164 207219164 single base substitution T C 3_prime_UTR_variant CLLE-ES 1 207223374 207223374 single base substitution A C intron_variant CLLE-ES 1 207226563 207226563 single base substitution A G upstream_gene_variant CLLE-ES 1 207228864 207228864 single base substitution A T upstream_gene_variant COAD-US 1 207222634 207222634 single base substitution G T missense_variant L216M 646C>A COAD-US 1 207222634 207222634 single base substitution G T missense_variant L260M 778C>A COAD-US 1 207222915 207222915 single base substitution T C missense_variant Y122C 365A>G COAD-US 1 207222915 207222915 single base substitution T C missense_variant Y166C 497A>G COAD-US 1 207228144 207228146 deletion of <=200bp TGT - upstream_gene_variant COCA-CN 1 207222904 207222904 single base substitution C T missense_variant E126K 376G>A COCA-CN 1 207222904 207222904 single base substitution C T missense_variant E170K 508G>A COCA-CN 1 207227989 207227989 single base substitution T A upstream_gene_variant ESAD-UK 1 207213103 207213103 single base substitution C T downstream_gene_variant ESAD-UK 1 207214956 207214956 single base substitution C T downstream_gene_variant ESAD-UK 1 207216513 207216513 single base substitution T C downstream_gene_variant ESAD-UK 1 207219000 207219000 single base substitution T C 3_prime_UTR_variant ESAD-UK 1 207220160 207220160 single base substitution T A 3_prime_UTR_variant ESAD-UK 1 207223354 207223354 single base substitution A C intron_variant ESAD-UK 1 207226226 207226226 insertion of <=200bp - TA 5_prime_UTR_variant ESAD-UK 1 207226226 207226226 insertion of <=200bp - TA upstream_gene_variant ESAD-UK 1 207227394 207227394 single base substitution G A upstream_gene_variant ESCA-CN 1 207217359 207217359 single base substitution T C 3_prime_UTR_variant GBM-US 1 207222900 207222900 single base substitution C T missense_variant G127E 380G>A GBM-US 1 207222900 207222900 single base substitution C T missense_variant G171E 512G>A GBM-US 1 207224090 207224090 single base substitution C T missense_variant E52K 154G>A GBM-US 1 207224090 207224090 single base substitution C T missense_variant E96K 286G>A KIRC-US 1 207222973 207222977 deletion of <=200bp GCAAA - frameshift_variant TLP101 KIRC-US 1 207222973 207222977 deletion of <=200bp GCAAA - frameshift_variant TLP145 KIRP-US 1 207222409 207222409 deletion of <=200bp C - frameshift_variant E291 KIRP-US 1 207222409 207222409 deletion of <=200bp C - frameshift_variant E335 LICA-CN 1 207222370 207222370 single base substitution C T missense_variant V304M 910G>A LICA-CN 1 207222370 207222370 single base substitution C T missense_variant V348M 1042G>A LICA-FR 1 207218501 207218501 single base substitution T A 3_prime_UTR_variant LICA-FR 1 207220034 207220034 single base substitution T C 3_prime_UTR_variant LICA-FR 1 207221157 207221157 single base substitution T G 3_prime_UTR_variant LICA-FR 1 207222426 207222426 single base substitution C T missense_variant G285E 854G>A LICA-FR 1 207222426 207222426 single base substitution C T missense_variant G329E 986G>A LIHC-US 1 207224106 207224106 single base substitution G A synonymous_variant L46L 138C>T LIHC-US 1 207224106 207224106 single base substitution G A synonymous_variant L90L 270C>T LINC-JP 1 207222208 207222208 single base substitution A G 3_prime_UTR_variant LINC-JP 1 207222577 207222577 single base substitution C G missense_variant D235H 703G>C LINC-JP 1 207222577 207222577 single base substitution C G missense_variant D279H 835G>C LINC-JP 1 207225591 207225591 single base substitution C T 5_prime_UTR_variant LINC-JP 1 207225591 207225591 single base substitution C T upstream_gene_variant LINC-JP 1 207228232 207228232 single base substitution G T upstream_gene_variant LIRI-JP 1 207212794 207212794 single base substitution A G downstream_gene_variant LIRI-JP 1 207213130 207213130 single base substitution A G downstream_gene_variant LIRI-JP 1 207213975 207213975 single base substitution T C downstream_gene_variant LIRI-JP 1 207214022 207214022 single base substitution A C downstream_gene_variant LIRI-JP 1 207215994 207215994 single base substitution A G downstream_gene_variant LIRI-JP 1 207223016 207223016 single base substitution T C synonymous_variant A132A 396A>G LIRI-JP 1 207223016 207223016 single base substitution T C synonymous_variant A88A 264A>G LIRI-JP 1 207226491 207226491 single base substitution T C upstream_gene_variant LIRI-JP 1 207227414 207227414 single base substitution A C upstream_gene_variant LIRI-JP 1 207230112 207230112 single base substitution G A upstream_gene_variant LUSC-KR 1 207224403 207224403 single base substitution A T 5_prime_UTR_variant LUSC-KR 1 207224403 207224403 single base substitution A T intron_variant LUSC-KR 1 207226417 207226417 single base substitution G C upstream_gene_variant LUSC-KR 1 207226604 207226604 single base substitution C G upstream_gene_variant LUSC-US 1 207222725 207222725 single base substitution G T synonymous_variant S185S 555C>A LUSC-US 1 207222725 207222725 single base substitution G T synonymous_variant S229S 687C>A MALY-DE 1 207215893 207215901 deletion of <=200bp ACAAAAAAA - downstream_gene_variant MALY-DE 1 207223510 207223510 single base substitution T G intron_variant MALY-DE 1 207223539 207223539 single base substitution T C intron_variant MALY-DE 1 207224761 207224761 single base substitution G A intron_variant MALY-DE 1 207224761 207224761 single base substitution G A upstream_gene_variant MALY-DE 1 207227820 207227820 single base substitution G C upstream_gene_variant MALY-DE 1 207228987 207228988 deletion of <=200bp TA - upstream_gene_variant MELA-AU 1 207212208 207212208 single base substitution C T downstream_gene_variant MELA-AU 1 207212234 207212234 single base substitution G A downstream_gene_variant MELA-AU 1 207212408 207212408 single base substitution C T downstream_gene_variant MELA-AU 1 207212609 207212609 single base substitution C T downstream_gene_variant MELA-AU 1 207212781 207212781 single base substitution C T downstream_gene_variant MELA-AU 1 207212910 207212910 single base substitution C T downstream_gene_variant MELA-AU 1 207213360 207213360 single base substitution C T downstream_gene_variant MELA-AU 1 207213586 207213586 single base substitution A C downstream_gene_variant MELA-AU 1 207213601 207213601 single base substitution G A downstream_gene_variant MELA-AU 1 207213849 207213849 single base substitution C T downstream_gene_variant MELA-AU 1 207213952 207213952 single base substitution C T downstream_gene_variant MELA-AU 1 207214494 207214494 single base substitution G A downstream_gene_variant MELA-AU 1 207215457 207215457 single base substitution C T downstream_gene_variant MELA-AU 1 207215738 207215738 single base substitution G A downstream_gene_variant MELA-AU 1 207216133 207216133 single base substitution G A downstream_gene_variant MELA-AU 1 207216380 207216380 single base substitution T A downstream_gene_variant MELA-AU 1 207217009 207217009 single base substitution A G downstream_gene_variant MELA-AU 1 207217215 207217215 single base substitution C T 3_prime_UTR_variant MELA-AU 1 207218140 207218140 single base substitution G A 3_prime_UTR_variant MELA-AU 1 207218339 207218339 single base substitution G A 3_prime_UTR_variant MELA-AU 1 207219256 207219256 single base substitution G A 3_prime_UTR_variant MELA-AU 1 207220614 207220615 multiple base substitution (>=2bp and <=200bp) TC GT 3_prime_UTR_variant MELA-AU 1 207221643 207221643 single base substitution A C 3_prime_UTR_variant MELA-AU 1 207221850 207221850 single base substitution G A 3_prime_UTR_variant MELA-AU 1 207222219 207222219 single base substitution G A 3_prime_UTR_variant MELA-AU 1 207223091 207223091 single base substitution C A intron_variant MELA-AU 1 207223102 207223102 single base substitution G A intron_variant MELA-AU 1 207223669 207223669 single base substitution G A intron_variant MELA-AU 1 207225661 207225661 single base substitution G A 5_prime_UTR_variant MELA-AU 1 207225661 207225661 single base substitution G A upstream_gene_variant MELA-AU 1 207226413 207226413 single base substitution C T upstream_gene_variant MELA-AU 1 207227012 207227012 single base substitution C T upstream_gene_variant MELA-AU 1 207227502 207227502 single base substitution C T upstream_gene_variant MELA-AU 1 207228865 207228865 single base substitution G A upstream_gene_variant MELA-AU 1 207229645 207229645 single base substitution G A upstream_gene_variant MELA-AU 1 207229947 207229965 deletion of <=200bp AGCAGTAATCCCTGGTTTC - upstream_gene_variant MELA-AU 1 207230396 207230396 single base substitution G A upstream_gene_variant MELA-AU 1 207230934 207230934 single base substitution C T upstream_gene_variant MELA-AU 1 207231111 207231111 single base substitution C T upstream_gene_variant MELA-AU 1 207231152 207231153 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant ORCA-IN 1 207212997 207212997 deletion of <=200bp C - downstream_gene_variant ORCA-IN 1 207228072 207228072 single base substitution G A upstream_gene_variant OV-AU 1 207215530 207215530 single base substitution C G downstream_gene_variant OV-AU 1 207220824 207220824 single base substitution T G 3_prime_UTR_variant OV-AU 1 207223149 207223149 single base substitution C T intron_variant OV-AU 1 207228881 207228881 single base substitution C T upstream_gene_variant OV-AU 1 207230097 207230097 single base substitution C A upstream_gene_variant OV-AU 1 207230172 207230172 single base substitution T C upstream_gene_variant PACA-AU 1 207212358 207212358 single base substitution C T downstream_gene_variant PACA-AU 1 207212666 207212666 single base substitution G A downstream_gene_variant PACA-AU 1 207214755 207214755 single base substitution A G downstream_gene_variant PACA-AU 1 207216770 207216770 single base substitution T C downstream_gene_variant PACA-AU 1 207217782 207217782 single base substitution A G 3_prime_UTR_variant PACA-AU 1 207230787 207230787 single base substitution C T upstream_gene_variant PACA-CA 1 207212456 207212456 single base substitution G T downstream_gene_variant PACA-CA 1 207218495 207218495 single base substitution C A 3_prime_UTR_variant PACA-CA 1 207218760 207218760 single base substitution A C 3_prime_UTR_variant PACA-CA 1 207219799 207219799 deletion of <=200bp A - 3_prime_UTR_variant PACA-CA 1 207220986 207220986 single base substitution C G 3_prime_UTR_variant PACA-CA 1 207224922 207224922 single base substitution G T intron_variant PACA-CA 1 207224922 207224922 single base substitution G T upstream_gene_variant PACA-CA 1 207226317 207226317 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant PACA-CA 1 207226317 207226317 single base substitution G C upstream_gene_variant PACA-CA 1 207226465 207226465 single base substitution G A upstream_gene_variant PACA-CA 1 207227678 207227682 deletion of <=200bp AGGTC - upstream_gene_variant PACA-CA 1 207228194 207228194 single base substitution C G upstream_gene_variant PACA-CA 1 207229924 207229924 single base substitution C T upstream_gene_variant PBCA-DE 1 207212398 207212398 single base substitution A T downstream_gene_variant PBCA-DE 1 207213002 207213002 single base substitution C T downstream_gene_variant PBCA-DE 1 207213807 207213807 single base substitution G T downstream_gene_variant PBCA-DE 1 207219603 207219603 single base substitution T C 3_prime_UTR_variant PBCA-DE 1 207225193 207225193 single base substitution G A intron_variant PBCA-DE 1 207225193 207225193 single base substitution G A upstream_gene_variant PBCA-DE 1 207225512 207225512 single base substitution C G intron_variant PBCA-DE 1 207225512 207225512 single base substitution C G upstream_gene_variant PBCA-DE 1 207227310 207227310 single base substitution G A upstream_gene_variant PBCA-DE 1 207231043 207231043 single base substitution T A upstream_gene_variant PRAD-UK 1 207216792 207216792 single base substitution T C downstream_gene_variant PRAD-UK 1 207218118 207218118 single base substitution G A 3_prime_UTR_variant RECA-EU 1 207222974 207222974 single base substitution C T synonymous_variant L102L 306G>A RECA-EU 1 207222974 207222974 single base substitution C T synonymous_variant L146L 438G>A RECA-EU 1 207223190 207223190 single base substitution G C intron_variant RECA-EU 1 207227625 207227625 single base substitution C A upstream_gene_variant SKCA-BR 1 207212359 207212359 single base substitution G A downstream_gene_variant SKCA-BR 1 207214268 207214268 insertion of <=200bp - AT downstream_gene_variant SKCA-BR 1 207220413 207220413 single base substitution G A 3_prime_UTR_variant SKCA-BR 1 207221464 207221464 single base substitution G A 3_prime_UTR_variant SKCA-BR 1 207224170 207224170 single base substitution A C missense_variant V25G 74T>G SKCA-BR 1 207224170 207224170 single base substitution A C missense_variant V69G 206T>G SKCA-BR 1 207230647 207230648 deletion of <=200bp CA - upstream_gene_variant SKCM-US 1 207222387 207222387 single base substitution T C missense_variant H298R 893A>G SKCM-US 1 207222387 207222387 single base substitution T C missense_variant H342R 1025A>G SKCM-US 1 207222587 207222587 single base substitution G A synonymous_variant F231F 693C>T SKCM-US 1 207222587 207222587 single base substitution G A synonymous_variant F275F 825C>T SKCM-US 1 207228079 207228079 single base substitution C T upstream_gene_variant STAD-US 1 207222646 207222646 single base substitution T C missense_variant T212A 634A>G STAD-US 1 207222646 207222646 single base substitution T C missense_variant T256A 766A>G STAD-US 1 207222856 207222856 single base substitution T C missense_variant I142V 424A>G STAD-US 1 207222856 207222856 single base substitution T C missense_variant I186V 556A>G THCA-SA 1 207221404 207221404 single base substitution T C 3_prime_UTR_variant THCA-SA 1 207222471 207222471 single base substitution T C missense_variant N270S 809A>G THCA-SA 1 207222471 207222471 single base substitution T C missense_variant N314S 941A>G UCEC-US 1 207222393 207222393 single base substitution G A missense_variant T296I 887C>T UCEC-US 1 207222393 207222393 single base substitution G A missense_variant T340I 1019C>T UCEC-US 1 207222527 207222527 single base substitution T C synonymous_variant V251V 753A>G UCEC-US 1 207222527 207222527 single base substitution T C synonymous_variant V295V 885A>G UCEC-US 1 207222861 207222861 single base substitution C T missense_variant R140H 419G>A UCEC-US 1 207222861 207222861 single base substitution C T missense_variant R184H 551G>A UCEC-US 1 207222905 207222905 single base substitution G A synonymous_variant V125V 375C>T UCEC-US 1 207222905 207222905 single base substitution G A synonymous_variant V169V 507C>T UCEC-US 1 207225563 207225563 single base substitution T C missense_variant I6M 18A>G UCEC-US 1 207225563 207225563 single base substitution T C upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand SJRHB007_D COSM3737349 c.376G>A p.E126K Substitution - Missense 1:207049559-207049559 - TCGA-AX-A063-01 COSM4863929 c.887C>T p.T296I Substitution - Missense 1:207049048-207049048 - HCC049T COSM5812058 c.910G>A p.V304M Substitution - Missense 1:207049025-207049025 - sysucc-1397T COSM3737349 c.376G>A p.E126K Substitution - Missense 1:207049559-207049559 - TCGA-D3-A2JH-06 COSM3482569 c.893A>G p.H298R Substitution - Missense 1:207049042-207049042 - TCGA-B4-5836-01 COSM1491896 c.441T>C p.P147P Substitution - coding silent 1:207049626-207049626 - 19 COSM5745804 c.491G>A p.S164N Substitution - Missense 1:207049576-207049576 - TCGA-22-5472-01 COSM678894 c.687C>A p.S229S Substitution - coding silent 1:207049380-207049380 - TCGA-BG-A0MQ-01 COSM4874438 c.419G>A p.R140H Substitution - Missense 1:207049516-207049516 - TCGA-BG-A0MQ-01 COSM903077 c.551G>A p.R184H Substitution - Missense 1:207049516-207049516 - S02273 COSM5681444 c.583G>A p.V195M Substitution - Missense 1:207049352-207049352 - 587376 COSM1233040 c.734G>T p.R245I Substitution - Missense 1:207049333-207049333 - TCGA-D1-A17Q-01 COSM4865241 c.375C>T p.V125V Substitution - coding silent 1:207049560-207049560 - 587332 COSM1233038 c.332C>T p.P111L Substitution - Missense 1:207050699-207050699 - QC2-03-T2 COSM5651666 c.97C>A p.P33T Substitution - Missense 1:207050934-207050934 - TCGA-BS-A0UL-01 COSM903076 c.554T>C p.L185P Substitution - Missense 1:207049513-207049513 - TCGA-FW-A3R5-06 COSM3864312 c.693C>T p.F231F Substitution - coding silent 1:207049242-207049242 - TCGA-06-0211 COSM2150739 c.512G>A p.G171E Substitution - Missense 1:207049555-207049555 - TCGA-AA-3663-01 COSM1338371 c.497A>G p.Y166C Substitution - Missense 1:207049570-207049570 - 19 COSM5745805 c.359G>A p.S120N Substitution - Missense 1:207049576-207049576 - TCGA-BR-8081-01 COSM4027580 c.424A>G p.I142V Substitution - Missense 1:207049511-207049511 - EGC3 COSM5053028 c.120C>T p.G40G Substitution - coding silent 1:207050911-207050911 - SJRHB007 COSM3737348 c.508G>A p.E170K Substitution - Missense 1:207049559-207049559 - TCGA-30-1891-01 COSM116566 c.158C>G p.A53G Substitution - Missense 1:207050873-207050873 - SJRHB007_D COSM3737348 c.508G>A p.E170K Substitution - Missense 1:207049559-207049559 - TCGA-06-0211-02 COSM2150740 c.380G>A p.G127E Substitution - Missense 1:207049555-207049555 - ATL060 COSM5705170 c.106A>G p.T36A Substitution - Missense 1:207050793-207050793 - TCGA-B5-A0JY-01 COSM4869280 c.753A>G p.V251V Substitution - coding silent 1:207049182-207049182 - S02273 COSM5681443 c.715G>A p.V239M Substitution - Missense 1:207049352-207049352 - HCC169 COSM3705452 c.835G>C p.D279H Substitution - Missense 1:207049232-207049232 - TCGA-06-0211-02 COSM2150739 c.512G>A p.G171E Substitution - Missense 1:207049555-207049555 - TCGA-AZ-4315-01 COSM4948375 c.646C>A p.L216M Substitution - Missense 1:207049289-207049289 - RK042_C COSM1626784 c.264A>G p.A88A Substitution - coding silent 1:207049671-207049671 - TCGA-AO-A128-01 COSM3803704 c.551G>T p.R184L Substitution - Missense 1:207049516-207049516 - TCGA-25-2391-01 COSM111735 c.671_679delAGATATCGA p.E224_I227>V Complex - deletion inframe 1:207049388-207049396 - HCC049T COSM5812057 c.1042G>A p.V348M Substitution - Missense 1:207049025-207049025 - TCGA-B5-A0JY-01 COSM903075 c.885A>G p.V295V Substitution - coding silent 1:207049182-207049182 - TCGA-AA-3663-01 COSM4948328 c.365A>G p.Y122C Substitution - Missense 1:207049570-207049570 - CHC2115T COSM4793350 c.986G>A p.G329E Substitution - Missense 1:207049081-207049081 - SJRHB007 COSM3737349 c.376G>A p.E126K Substitution - Missense 1:207049559-207049559 - TCGA-28-5204-01 COSM3400246 c.154G>A p.E52K Substitution - Missense 1:207050745-207050745 - 587342 COSM1233039 c.427A>G p.R143G Substitution - Missense 1:207049640-207049640 - C0080T COSM4135931 c.438G>A p.L146L Substitution - coding silent 1:207049629-207049629 - HCC169T COSM3705453 c.703G>C p.D235H Substitution - Missense 1:207049232-207049232 - TCGA-BR-6452-01 COSM4027578 c.634A>G p.T212A Substitution - Missense 1:207049301-207049301 - TCGA-BS-A0U7-01 COSM903073 c.1020A>G p.T340T Substitution - coding silent 1:207049047-207049047 - TCGA-22-5472-01 COSM4862735 c.555C>A p.S185S Substitution - coding silent 1:207049380-207049380 - TCGA-DS-A0VM-01 COSM458297 c.570A>T p.V190V Substitution - coding silent 1:207049497-207049497 - TCGA-G3-A25S-01 COSM4927082 c.270C>T p.L90L Substitution - coding silent 1:207050761-207050761 - RK042_C01 COSM1626783 c.396A>G p.A132A Substitution - coding silent 1:207049671-207049671 - TCGA-D1-A17Q-01 COSM903078 c.507C>T p.V169V Substitution - coding silent 1:207049560-207049560 - TCGA-AZ-4315-01 COSM1338370 c.778C>A p.L260M Substitution - Missense 1:207049289-207049289 - TCGA-BR-8081-01 COSM4027579 c.556A>G p.I186V Substitution - Missense 1:207049511-207049511 - C0080T COSM4135932 c.306G>A p.L102L Substitution - coding silent 1:207049629-207049629 - SC_9038 COSM5560589 c.351G>A p.M117I Substitution - Missense 1:207049716-207049716 - TCGA-G3-A25S-01 COSM4927083 c.138C>T p.L46L Substitution - coding silent 1:207050761-207050761 - TCGA-DK-A3IN-01 COSM3789410 c.914G>C p.R305T Substitution - Missense 1:207049153-207049153 - TCGA-BR-6452-01 COSM4027577 c.766A>G p.T256A Substitution - Missense 1:207049301-207049301 - TCGA-28-5204-01 COSM3400245 c.286G>A p.E96K Substitution - Missense 1:207050745-207050745 - TCGA-AP-A056-01 COSM1583975 c.18A>G p.I6M Substitution - Missense 1:207052218-207052218 - RK042_C COSM1626783 c.396A>G p.A132A Substitution - coding silent 1:207049671-207049671 - DLD1 COSM4622395 c.12C>T p.P4P Substitution - coding silent 1:207051019-207051019 - sysucc-1397T COSM3737348 c.508G>A p.E170K Substitution - Missense 1:207049559-207049559 - CHC2115T COSM4793351 c.854G>A p.G285E Substitution - Missense 1:207049081-207049081 - SC_9038 COSM5560590 c.219G>A p.M73I Substitution - Missense 1:207049716-207049716 - TCGA-D3-A2JH-06 COSM3482568 c.1025A>G p.H342R Substitution - Missense 1:207049042-207049042 - TCGA-30-1891-01 COSM116182 c.832C>A p.P278T Substitution - Missense 1:207049235-207049235 - HCC169T COSM3705452 c.835G>C p.D279H Substitution - Missense 1:207049232-207049232 - TCGA-DK-A3IN-01 COSM3789411 c.782G>C p.R261T Substitution - Missense 1:207049153-207049153 - CX-1 COSM4621575 c.54C>A p.F18L Substitution - Missense 1:207050977-207050977 - HT29 COSM4621575 c.54C>A p.F18L Substitution - Missense 1:207050977-207050977 - TCGA-AO-A128-01 COSM3803705 c.419G>T p.R140L Substitution - Missense 1:207049516-207049516 - ATL060 COSM5705169 c.238A>G p.T80A Substitution - Missense 1:207050793-207050793 - CHC2115T COSM4793350 c.986G>A p.G329E Substitution - Missense 1:207049081-207049081 - 86793 COSM95550 c.197G>T p.R66L Substitution - Missense 1:207050834-207050834 - RK042_C01 COSM1626784 c.264A>G p.A88A Substitution - coding silent 1:207049671-207049671 - TCGA-36-2530-01 COSM1320528 c.165C>G p.D55E Substitution - Missense 1:207050866-207050866 - CHC2115T COSM4793351 c.854G>A p.G285E Substitution - Missense 1:207049081-207049081 - TCGA-FW-A3R5-06 COSM3864311 c.825C>T p.F275F Substitution - coding silent 1:207049242-207049242 - HCC169 COSM3705453 c.703G>C p.D235H Substitution - Missense 1:207049232-207049232 - TCGA-AX-A063-01 COSM903074 c.1019C>T p.T340I Substitution - Missense 1:207049048-207049048 - TCGA-06-0211 COSM2150740 c.380G>A p.G127E Substitution - Missense 1:207049555-207049555 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.567530;Hs.567533 1q32.2 612023 Hs.711949;Hs.711951;Hs.711952;Hs.711955;Hs.711956;Hs.711957;Hs.711959;Hs.711960;Hs.711961;Hs.711964;Hs.711966;Hs.711969;Hs.711971;Hs.711977;Hs.711982 1q32.2 612023

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer C G Missense p.R305T c.914G>C 1 207222498 BLCA C T Missense p.E224K c.670G>A 1 207222742 LUAD C T Missense p.E96K c.286G>A 1 207224090 GBM C T Missense p.G171E c.512G>A 1 207222900 GBM C T Missense p.R184H c.551G>A 1 207222861 UCEC G A 3-UTRSNV . c.1044+115C>T 1 207222253 CM G A Missense p.H13Y c.37C>T 1 207224339 CM G A Missense p.P282L c.845C>T 1 207222567 CM G A Missense p.T340I c.1019C>T 1 207222393 UCEC GCAAA - Frameshift p.L146Cfs*17 c.435_439delTTTGC 1 207222973 RCCC G C Missense p.A53G c.158C>G 1 207224218 OV G T Missense p.P278T c.832C>A 1 207222580 OV G T Synonymous p.S229S c.687C>A 1 207222725 LUSC TCGATATCT - MultiAAMissense p.E224_I227delinsV c.671_679delAGATATCGA 1 207222733 OV T C Missense p.D247G c.740A>G 1 207222672 HNSC T C Missense p.H342R c.1025A>G 1 207222387 CM T C Synonymous p.A132A c.396A>G 1 207223016 HC