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 3 112257000 112257000 + Missense_Mutation SNP G G T TCGA-OR-A5JA-01A-11D-A29I-10 TCGA-OR-A5JA-10A-01D-A29L-10 g.chr3:112257000G>T c.503C>A c.(502-504)aCa>aAa p.T168K BLCA 3 112255401 112255401 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 g.chr3:112255401C>G c.715G>C c.(715-717)Gat>Cat p.D239H BLCA 3 112256710 112256710 + Missense_Mutation SNP C C T TCGA-4Z-AA80-01A-11D-A391-08 TCGA-4Z-AA80-10A-01D-A394-08 g.chr3:112256710C>T c.538G>A c.(538-540)Gaa>Aaa p.E180K BRCA 3 112256647 112256647 + Missense_Mutation SNP C C T TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr3:112256647C>T c.601G>A c.(601-603)Gac>Aac p.D201N BRCA 3 112256689 112256689 + Missense_Mutation SNP C C G TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 g.chr3:112256689C>G c.559G>C c.(559-561)Gat>Cat p.D187H CESC 3 112260686 112260686 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 g.chr3:112260686C>T c.439G>A c.(439-441)Gaa>Aaa p.E147K CESC 3 112260706 112260706 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr3:112260706G>A c.419C>T c.(418-420)tCa>tTa p.S140L COAD 3 112253138 112253138 + Missense_Mutation SNP C C A TCGA-CM-5348-01A-21D-1719-10 TCGA-CM-5348-10A-01D-1719-10 g.chr3:112253138C>A c.841G>T c.(841-843)Ggg>Tgg p.G281W COAD 3 112256607 112256607 + Missense_Mutation SNP C C A TCGA-CM-5341-01A-01D-1408-10 TCGA-CM-5341-10A-01D-1408-10 g.chr3:112256607C>A c.641G>T c.(640-642)cGa>cTa p.R214L COAD 3 112280340 112280340 + Silent SNP T T C TCGA-AZ-6599-01A-11D-1771-10 TCGA-AZ-6599-11A-01D-1771-10 g.chr3:112280340T>C c.36A>G c.(34-36)gcA>gcG p.A12A COADREAD 3 112253138 112253138 + Missense_Mutation SNP C C A TCGA-CM-5348-01A-21D-1719-10 TCGA-CM-5348-10A-01D-1719-10 g.chr3:112253138C>A c.841G>T c.(841-843)Ggg>Tgg p.G281W COADREAD 3 112256607 112256607 + Missense_Mutation SNP C C A TCGA-CM-5341-01A-01D-1408-10 TCGA-CM-5341-10A-01D-1408-10 g.chr3:112256607C>A c.641G>T c.(640-642)cGa>cTa p.R214L COADREAD 3 112256665 112256665 + Missense_Mutation SNP A A C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:112256665A>C c.583T>G c.(583-585)Ttg>Gtg p.L195V COADREAD 3 112260669 112260669 + Silent SNP T T G TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr3:112260669T>G c.456A>C c.(454-456)ggA>ggC p.G152G COADREAD 3 112272143 112272143 + Missense_Mutation SNP A A G TCGA-DC-5337-01A-01D-1657-10 TCGA-DC-5337-10A-01D-1657-10 g.chr3:112272143A>G c.148T>C c.(148-150)Tgt>Cgt p.C50R COADREAD 3 112280340 112280340 + Silent SNP T T C TCGA-AZ-6599-01A-11D-1771-10 TCGA-AZ-6599-11A-01D-1771-10 g.chr3:112280340T>C c.36A>G c.(34-36)gcA>gcG p.A12A ESCA 3 112253120 112253120 + Missense_Mutation SNP G G A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 g.chr3:112253120G>A c.859C>T c.(859-861)Cat>Tat p.H287Y KIPAN 3 112256693 112256693 + Missense_Mutation SNP T T G TCGA-CZ-5463-01A-01D-1501-10 TCGA-CZ-5463-11A-01D-1501-10 g.chr3:112256693T>G c.555A>C c.(553-555)aaA>aaC p.K185N KIRC 3 112256693 112256693 + Missense_Mutation SNP T T G TCGA-CZ-5463-01A-01D-1501-10 TCGA-CZ-5463-11A-01D-1501-10 g.chr3:112256693T>G c.555A>C c.(553-555)aaA>aaC p.K185N LIHC 3 112262916 112262916 + Silent SNP T T A TCGA-DD-AAC8-01A-11D-A40R-10 TCGA-DD-AAC8-10A-01D-A40U-10 g.chr3:112262916T>A c.381A>T c.(379-381)acA>acT p.T127T LUAD 3 112255402 112255402 + Missense_Mutation SNP C C A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 g.chr3:112255402C>A c.714G>T c.(712-714)caG>caT p.Q238H LUAD 3 112255419 112255419 + Missense_Mutation SNP A A C TCGA-55-7995-01A-11D-2184-08 TCGA-55-7995-10A-01D-2184-08 g.chr3:112255419A>C c.697T>G c.(697-699)Tat>Gat p.Y233D LUAD 3 112260671 112260676 + In_Frame_Del DEL CTTCAT CTTCAT - TCGA-50-5946-01A-11D-1753-08 TCGA-50-5946-10A-01D-1753-08 g.chr3:112260671_112260676delCTTCAT c.449_454delATGAAG c.(448-456)gatgaagga>gga p.DE150del LUAD 3 112262939 112262939 + Missense_Mutation SNP T T A TCGA-97-8174-01A-11D-2284-08 TCGA-97-8174-10A-01D-2284-08 g.chr3:112262939T>A c.358A>T c.(358-360)Acg>Tcg p.T120S LUAD 3 112277264 112277264 + Splice_Site SNP C C G TCGA-49-6743-01A-11D-1855-08 TCGA-49-6743-11A-01D-1855-08 g.chr3:112277264C>G c.73G>C c.(73-75)Gaa>Caa p.E25Q LUSC 3 112267419 112267419 + Missense_Mutation SNP C C T TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 g.chr3:112267419C>T c.304G>A c.(304-306)Gat>Aat p.D102N LUSC 3 112267449 112267449 + Missense_Mutation SNP C C T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 g.chr3:112267449C>T c.274G>A c.(274-276)Gat>Aat p.D92N OV 3 112253138 112253138 + Missense_Mutation SNP C C A TCGA-13-0804-01A-01W-0372-09 TCGA-13-0804-10A-01W-0372-09 g.chr3:112253138C>A c.841G>T c.(841-843)Ggg>Tgg p.G281W OV 3 112269052 112269052 + Missense_Mutation SNP C C G TCGA-25-1630-01A-01W-0615-10 TCGA-25-1630-10A-01W-0615-10 g.chr3:112269052C>G c.222G>C c.(220-222)ttG>ttC p.L74F OV 3 112280341 112280341 + Missense_Mutation SNP G G A TCGA-09-1666-01A-01W-0615-10 TCGA-09-1666-10A-01W-0616-10 g.chr3:112280341G>A c.35C>T c.(34-36)gCa>gTa p.A12V PAAD 3 112267472 112267472 + Missense_Mutation SNP C C T TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 g.chr3:112267472C>T c.251G>A c.(250-252)cGg>cAg p.R84Q PRAD 3 112255367 112255367 + Missense_Mutation SNP T T C TCGA-EJ-7312-01B-21D-A32B-08 TCGA-EJ-7312-10A-01D-A329-08 g.chr3:112255367T>C c.749A>G c.(748-750)cAc>cGc p.H250R READ 3 112256665 112256665 + Missense_Mutation SNP A A C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:112256665A>C c.583T>G c.(583-585)Ttg>Gtg p.L195V READ 3 112260669 112260669 + Silent SNP T T G TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr3:112260669T>G c.456A>C c.(454-456)ggA>ggC p.G152G READ 3 112272143 112272143 + Missense_Mutation SNP A A G TCGA-DC-5337-01A-01D-1657-10 TCGA-DC-5337-10A-01D-1657-10 g.chr3:112272143A>G c.148T>C c.(148-150)Tgt>Cgt p.C50R SARC 3 112256658 112256658 + Missense_Mutation SNP G G C TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 g.chr3:112256658G>C c.590C>G c.(589-591)aCc>aGc p.T197S SKCM 3 112251591 112251591 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:112251591G>A c.900C>T c.(898-900)gtC>gtT p.V300V SKCM 3 112277231 112277231 + Missense_Mutation SNP G G C TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr3:112277231G>C c.106C>G c.(106-108)Cca>Gca p.P36A

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 3 112255401 112255401 single base substitution C G downstream_gene_variant BLCA-US 3 112255401 112255401 single base substitution C G exon_variant BLCA-US 3 112255401 112255401 single base substitution C G missense_variant D239H 715G>C BRCA-EU 3 112246364 112246364 single base substitution A G downstream_gene_variant BRCA-EU 3 112246470 112246470 insertion of <=200bp - C downstream_gene_variant BRCA-EU 3 112247200 112247200 single base substitution A G downstream_gene_variant BRCA-EU 3 112247856 112247856 single base substitution C T downstream_gene_variant BRCA-EU 3 112248553 112248553 single base substitution G A downstream_gene_variant BRCA-EU 3 112249619 112249619 single base substitution G A downstream_gene_variant BRCA-EU 3 112249880 112249880 deletion of <=200bp A - downstream_gene_variant BRCA-EU 3 112249880 112249880 insertion of <=200bp - A downstream_gene_variant BRCA-EU 3 112250325 112250325 deletion of <=200bp C - downstream_gene_variant BRCA-EU 3 112250772 112250772 single base substitution A G downstream_gene_variant BRCA-EU 3 112251731 112251731 single base substitution C A 3_prime_UTR_variant BRCA-EU 3 112251731 112251731 single base substitution C A downstream_gene_variant BRCA-EU 3 112251731 112251731 single base substitution C A intron_variant BRCA-EU 3 112253543 112253543 single base substitution A G downstream_gene_variant BRCA-EU 3 112253543 112253543 single base substitution A G exon_variant BRCA-EU 3 112253543 112253543 single base substitution A G intron_variant BRCA-EU 3 112260835 112260835 single base substitution A G downstream_gene_variant BRCA-EU 3 112260835 112260835 single base substitution A G intron_variant BRCA-EU 3 112260835 112260835 single base substitution A G upstream_gene_variant BRCA-EU 3 112264000 112264000 single base substitution G A intron_variant BRCA-EU 3 112264330 112264330 single base substitution C T intron_variant BRCA-EU 3 112264983 112264983 deletion of <=200bp A - intron_variant BRCA-EU 3 112265688 112265688 insertion of <=200bp - G intron_variant BRCA-EU 3 112265773 112265793 deletion of <=200bp TCATTAATAAGCCAATAAATT - intron_variant BRCA-EU 3 112265962 112265962 insertion of <=200bp - T intron_variant BRCA-EU 3 112266822 112266822 single base substitution C T intron_variant BRCA-EU 3 112266859 112266859 deletion of <=200bp A - intron_variant BRCA-EU 3 112267222 112267222 single base substitution G A intron_variant BRCA-EU 3 112268164 112268164 single base substitution A G intron_variant BRCA-EU 3 112268653 112268653 single base substitution A C intron_variant BRCA-EU 3 112268839 112268839 deletion of <=200bp A - intron_variant BRCA-EU 3 112268901 112268901 single base substitution A G intron_variant BRCA-EU 3 112269970 112269970 single base substitution G A intron_variant BRCA-EU 3 112271176 112271176 single base substitution C G intron_variant BRCA-EU 3 112271499 112271499 single base substitution T A intron_variant BRCA-EU 3 112271512 112271512 single base substitution G C intron_variant BRCA-EU 3 112272202 112272202 single base substitution A G downstream_gene_variant BRCA-EU 3 112272202 112272202 single base substitution A G intron_variant BRCA-EU 3 112273393 112273393 single base substitution G T downstream_gene_variant BRCA-EU 3 112273393 112273393 single base substitution G T intron_variant BRCA-EU 3 112273668 112273668 single base substitution T A downstream_gene_variant BRCA-EU 3 112273668 112273668 single base substitution T A intron_variant BRCA-EU 3 112273937 112273937 deletion of <=200bp A - downstream_gene_variant BRCA-EU 3 112273937 112273937 deletion of <=200bp A - intron_variant BRCA-EU 3 112274188 112274188 single base substitution C T downstream_gene_variant BRCA-EU 3 112274188 112274188 single base substitution C T intron_variant BRCA-EU 3 112277228 112277228 single base substitution C T 5_prime_UTR_variant BRCA-EU 3 112277228 112277228 single base substitution C T exon_variant BRCA-EU 3 112277228 112277228 single base substitution C T missense_variant E37K 109G>A BRCA-EU 3 112278853 112278853 single base substitution C T intron_variant BRCA-EU 3 112279484 112279484 single base substitution C T intron_variant BRCA-EU 3 112279574 112279574 single base substitution A T intron_variant BRCA-EU 3 112282774 112282774 single base substitution T A upstream_gene_variant BRCA-EU 3 112284977 112284977 single base substitution A T upstream_gene_variant BRCA-EU 3 112285211 112285211 single base substitution G C upstream_gene_variant BRCA-FR 3 112249619 112249619 single base substitution G A downstream_gene_variant BRCA-FR 3 112249917 112249917 single base substitution A T downstream_gene_variant BRCA-FR 3 112250059 112250059 single base substitution A C downstream_gene_variant BRCA-FR 3 112273668 112273668 single base substitution T A downstream_gene_variant BRCA-FR 3 112273668 112273668 single base substitution T A intron_variant BRCA-FR 3 112277394 112277394 single base substitution A G intron_variant BRCA-FR 3 112282774 112282774 single base substitution T A upstream_gene_variant BRCA-UK 3 112255438 112255438 single base substitution A C downstream_gene_variant BRCA-UK 3 112255438 112255438 single base substitution A C exon_variant BRCA-UK 3 112255438 112255438 single base substitution A C synonymous_variant P226P 678T>G BRCA-UK 3 112281955 112281955 single base substitution G A upstream_gene_variant BRCA-US 3 112255139 112255139 deletion of <=200bp T - downstream_gene_variant BRCA-US 3 112255139 112255139 deletion of <=200bp T - exon_variant BRCA-US 3 112255139 112255139 deletion of <=200bp T - intron_variant BRCA-US 3 112256647 112256647 single base substitution C T 3_prime_UTR_variant BRCA-US 3 112256647 112256647 single base substitution C T downstream_gene_variant BRCA-US 3 112256647 112256647 single base substitution C T exon_variant BRCA-US 3 112256647 112256647 single base substitution C T missense_variant D201N 601G>A BRCA-US 3 112256647 112256647 single base substitution C T upstream_gene_variant BRCA-US 3 112256689 112256689 single base substitution C G 3_prime_UTR_variant BRCA-US 3 112256689 112256689 single base substitution C G downstream_gene_variant BRCA-US 3 112256689 112256689 single base substitution C G exon_variant BRCA-US 3 112256689 112256689 single base substitution C G missense_variant D187H 559G>C BRCA-US 3 112256689 112256689 single base substitution C G upstream_gene_variant BTCA-JP 3 112272202 112272202 deletion of <=200bp A - downstream_gene_variant BTCA-JP 3 112272202 112272202 deletion of <=200bp A - intron_variant BTCA-JP 3 112272291 112272291 single base substitution T A downstream_gene_variant BTCA-JP 3 112272291 112272291 single base substitution T A intron_variant BTCA-JP 3 112280261 112280261 single base substitution G A intron_variant CESC-US 3 112260686 112260686 single base substitution C T 3_prime_UTR_variant CESC-US 3 112260686 112260686 single base substitution C T downstream_gene_variant CESC-US 3 112260686 112260686 single base substitution C T exon_variant CESC-US 3 112260686 112260686 single base substitution C T missense_variant E147K 439G>A CESC-US 3 112260686 112260686 single base substitution C T missense_variant E60K 178G>A CESC-US 3 112260686 112260686 single base substitution C T upstream_gene_variant CESC-US 3 112260706 112260706 single base substitution G A 3_prime_UTR_variant CESC-US 3 112260706 112260706 single base substitution G A downstream_gene_variant CESC-US 3 112260706 112260706 single base substitution G A exon_variant CESC-US 3 112260706 112260706 single base substitution G A missense_variant S140L 419C>T CESC-US 3 112260706 112260706 single base substitution G A missense_variant S53L 158C>T CESC-US 3 112260706 112260706 single base substitution G A upstream_gene_variant CLLE-ES 3 112261482 112261482 single base substitution C T downstream_gene_variant CLLE-ES 3 112261482 112261482 single base substitution C T intron_variant CLLE-ES 3 112261482 112261482 single base substitution C T upstream_gene_variant CLLE-ES 3 112272748 112272748 single base substitution T C downstream_gene_variant CLLE-ES 3 112272748 112272748 single base substitution T C intron_variant CLLE-ES 3 112278407 112278407 single base substitution G A intron_variant CLLE-ES 3 112281327 112281327 single base substitution A G upstream_gene_variant COAD-US 3 112256607 112256607 single base substitution C A 3_prime_UTR_variant COAD-US 3 112256607 112256607 single base substitution C A downstream_gene_variant COAD-US 3 112256607 112256607 single base substitution C A exon_variant COAD-US 3 112256607 112256607 single base substitution C A missense_variant R214L 641G>T COAD-US 3 112256607 112256607 single base substitution C A upstream_gene_variant COAD-US 3 112277267 112277267 deletion of <=200bp A - intron_variant COAD-US 3 112277267 112277267 deletion of <=200bp A - splice_region_variant COCA-CN 3 112248429 112248429 single base substitution G A downstream_gene_variant COCA-CN 3 112248510 112248510 single base substitution G A downstream_gene_variant COCA-CN 3 112248528 112248528 single base substitution C T downstream_gene_variant COCA-CN 3 112248562 112248562 single base substitution C A downstream_gene_variant COCA-CN 3 112248584 112248584 single base substitution G A downstream_gene_variant COCA-CN 3 112248756 112248756 single base substitution G C downstream_gene_variant COCA-CN 3 112248842 112248842 single base substitution T C downstream_gene_variant COCA-CN 3 112253252 112253252 single base substitution T C downstream_gene_variant COCA-CN 3 112253252 112253252 single base substitution T C exon_variant COCA-CN 3 112253252 112253252 single base substitution T C intron_variant COCA-CN 3 112255495 112255495 single base substitution G A downstream_gene_variant COCA-CN 3 112255495 112255495 single base substitution G A exon_variant COCA-CN 3 112255495 112255495 single base substitution G A intron_variant COCA-CN 3 112267346 112267346 single base substitution A T intron_variant COCA-CN 3 112269115 112269115 single base substitution A C splice_region_variant COCA-CN 3 112272267 112272267 single base substitution G A downstream_gene_variant COCA-CN 3 112272267 112272267 single base substitution G A intron_variant EOPC-DE 3 112249638 112249638 single base substitution G A downstream_gene_variant ESAD-UK 3 112247588 112247588 single base substitution C T downstream_gene_variant ESAD-UK 3 112249500 112249500 single base substitution T A downstream_gene_variant ESAD-UK 3 112249600 112249600 single base substitution T C downstream_gene_variant ESAD-UK 3 112251731 112251731 single base substitution C A 3_prime_UTR_variant ESAD-UK 3 112251731 112251731 single base substitution C A downstream_gene_variant ESAD-UK 3 112251731 112251731 single base substitution C A intron_variant ESAD-UK 3 112252127 112252127 single base substitution T G 3_prime_UTR_variant ESAD-UK 3 112252127 112252127 single base substitution T G downstream_gene_variant ESAD-UK 3 112252127 112252127 single base substitution T G intron_variant ESAD-UK 3 112254779 112254779 single base substitution G T downstream_gene_variant ESAD-UK 3 112254779 112254779 single base substitution G T exon_variant ESAD-UK 3 112254779 112254779 single base substitution G T intron_variant ESAD-UK 3 112256180 112256180 single base substitution C G downstream_gene_variant ESAD-UK 3 112256180 112256180 single base substitution C G intron_variant ESAD-UK 3 112256180 112256180 single base substitution C G upstream_gene_variant ESAD-UK 3 112258476 112258476 single base substitution C T downstream_gene_variant ESAD-UK 3 112258476 112258476 single base substitution C T intron_variant ESAD-UK 3 112258476 112258476 single base substitution C T upstream_gene_variant ESAD-UK 3 112259387 112259387 single base substitution C T downstream_gene_variant ESAD-UK 3 112259387 112259387 single base substitution C T intron_variant ESAD-UK 3 112259387 112259387 single base substitution C T upstream_gene_variant ESAD-UK 3 112260211 112260211 single base substitution C T downstream_gene_variant ESAD-UK 3 112260211 112260211 single base substitution C T intron_variant ESAD-UK 3 112260211 112260211 single base substitution C T upstream_gene_variant ESAD-UK 3 112260771 112260771 single base substitution C T downstream_gene_variant ESAD-UK 3 112260771 112260771 single base substitution C T intron_variant ESAD-UK 3 112260771 112260771 single base substitution C T upstream_gene_variant ESAD-UK 3 112261271 112261271 deletion of <=200bp G - downstream_gene_variant ESAD-UK 3 112261271 112261271 deletion of <=200bp G - intron_variant ESAD-UK 3 112261271 112261271 deletion of <=200bp G - upstream_gene_variant ESAD-UK 3 112264983 112264983 deletion of <=200bp A - intron_variant ESAD-UK 3 112267061 112267061 single base substitution T G intron_variant ESAD-UK 3 112267091 112267091 single base substitution C T intron_variant ESAD-UK 3 112267107 112267107 single base substitution G A intron_variant ESAD-UK 3 112270422 112270422 single base substitution G A intron_variant ESAD-UK 3 112273055 112273055 single base substitution C A downstream_gene_variant ESAD-UK 3 112273055 112273055 single base substitution C A intron_variant ESAD-UK 3 112276463 112276463 single base substitution C G downstream_gene_variant ESAD-UK 3 112276463 112276463 single base substitution C G intron_variant ESAD-UK 3 112277348 112277348 single base substitution G A intron_variant ESAD-UK 3 112277870 112277870 single base substitution G C intron_variant ESAD-UK 3 112278886 112278886 single base substitution T C intron_variant ESAD-UK 3 112279433 112279433 single base substitution A C intron_variant ESAD-UK 3 112281455 112281455 single base substitution C T upstream_gene_variant ESAD-UK 3 112281553 112281553 single base substitution G T upstream_gene_variant ESAD-UK 3 112281911 112281911 single base substitution T A upstream_gene_variant ESAD-UK 3 112284216 112284216 single base substitution G A upstream_gene_variant KIRC-US 3 112256693 112256693 single base substitution T G 3_prime_UTR_variant KIRC-US 3 112256693 112256693 single base substitution T G downstream_gene_variant KIRC-US 3 112256693 112256693 single base substitution T G exon_variant KIRC-US 3 112256693 112256693 single base substitution T G missense_variant K185N 555A>C KIRC-US 3 112256693 112256693 single base substitution T G upstream_gene_variant KIRC-US 3 112269053 112269053 single base substitution A G 5_prime_UTR_variant KIRC-US 3 112269053 112269053 single base substitution A G exon_variant KIRC-US 3 112269053 112269053 single base substitution A G intron_variant KIRC-US 3 112269053 112269053 single base substitution A G missense_variant L74S 221T>C KIRP-US 3 112282282 112282290 deletion of <=200bp TATGCTCCT - upstream_gene_variant LAML-KR 3 112275301 112275301 single base substitution A G downstream_gene_variant LAML-KR 3 112275301 112275301 single base substitution A G intron_variant LAML-KR 3 112275310 112275310 single base substitution C T downstream_gene_variant LAML-KR 3 112275310 112275310 single base substitution C T intron_variant LAML-KR 3 112275369 112275369 single base substitution G A downstream_gene_variant LAML-KR 3 112275369 112275369 single base substitution G A intron_variant LICA-CN 3 112262955 112262955 single base substitution T A splice_acceptor_variant LICA-CN 3 112267461 112267461 single base substitution T G exon_variant LICA-CN 3 112267461 112267461 single base substitution T G initiator_codon_variant M1L 1A>C LICA-CN 3 112267461 112267461 single base substitution T G missense_variant M88L 262A>C LICA-CN 3 112267461 112267461 single base substitution T G splice_region_variant LICA-FR 3 112258901 112258901 single base substitution G T downstream_gene_variant LICA-FR 3 112258901 112258901 single base substitution G T intron_variant LICA-FR 3 112258901 112258901 single base substitution G T upstream_gene_variant LICA-FR 3 112262944 112262953 deletion of <=200bp CCTGTAATAC - frameshift_variant GITG115 LICA-FR 3 112262944 112262953 deletion of <=200bp CCTGTAATAC - frameshift_variant GITG28 LICA-FR 3 112262944 112262953 deletion of <=200bp CCTGTAATAC - splice_region_variant LICA-FR 3 112267904 112267904 single base substitution G C intron_variant LICA-FR 3 112276801 112276801 single base substitution T C downstream_gene_variant LICA-FR 3 112276801 112276801 single base substitution T C intron_variant LICA-FR 3 112277227 112277227 single base substitution T C 5_prime_UTR_variant LICA-FR 3 112277227 112277227 single base substitution T C exon_variant LICA-FR 3 112277227 112277227 single base substitution T C missense_variant E37G 110A>G LICA-FR 3 112277228 112277228 single base substitution C T 5_prime_UTR_variant LICA-FR 3 112277228 112277228 single base substitution C T exon_variant LICA-FR 3 112277228 112277228 single base substitution C T missense_variant E37K 109G>A LINC-JP 3 112250393 112250393 single base substitution C T downstream_gene_variant LINC-JP 3 112253210 112253210 single base substitution G T downstream_gene_variant LINC-JP 3 112253210 112253210 single base substitution G T exon_variant LINC-JP 3 112253210 112253210 single base substitution G T intron_variant LINC-JP 3 112255666 112255666 single base substitution G A downstream_gene_variant LINC-JP 3 112255666 112255666 single base substitution G A intron_variant LINC-JP 3 112255666 112255666 single base substitution G A upstream_gene_variant LINC-JP 3 112256645 112256645 single base substitution G T 3_prime_UTR_variant LINC-JP 3 112256645 112256645 single base substitution G T downstream_gene_variant LINC-JP 3 112256645 112256645 single base substitution G T exon_variant LINC-JP 3 112256645 112256645 single base substitution G T missense_variant D201E 603C>A LINC-JP 3 112256645 112256645 single base substitution G T upstream_gene_variant LINC-JP 3 112256866 112256866 single base substitution G C downstream_gene_variant LINC-JP 3 112256866 112256866 single base substitution G C intron_variant LINC-JP 3 112256866 112256866 single base substitution G C upstream_gene_variant LINC-JP 3 112271854 112271854 single base substitution G C intron_variant LINC-JP 3 112272238 112272238 single base substitution G C downstream_gene_variant LINC-JP 3 112272238 112272238 single base substitution G C intron_variant LINC-JP 3 112274800 112274800 single base substitution C A downstream_gene_variant LINC-JP 3 112274800 112274800 single base substitution C A intron_variant LIRI-JP 3 112250211 112250211 single base substitution G C downstream_gene_variant LIRI-JP 3 112250398 112250400 deletion of <=200bp AAC - downstream_gene_variant LIRI-JP 3 112250561 112250561 single base substitution T C downstream_gene_variant LIRI-JP 3 112250736 112250736 single base substitution G A downstream_gene_variant LIRI-JP 3 112251477 112251477 single base substitution G A 3_prime_UTR_variant LIRI-JP 3 112251477 112251477 single base substitution G A downstream_gene_variant LIRI-JP 3 112251477 112251477 single base substitution G A exon_variant LIRI-JP 3 112254808 112254808 single base substitution C A downstream_gene_variant LIRI-JP 3 112254808 112254808 single base substitution C A exon_variant LIRI-JP 3 112254808 112254808 single base substitution C A intron_variant LIRI-JP 3 112255885 112255885 single base substitution G A downstream_gene_variant LIRI-JP 3 112255885 112255885 single base substitution G A intron_variant LIRI-JP 3 112255885 112255885 single base substitution G A upstream_gene_variant LIRI-JP 3 112257237 112257237 insertion of <=200bp - A intron_variant LIRI-JP 3 112257237 112257237 insertion of <=200bp - A upstream_gene_variant LIRI-JP 3 112257860 112257860 single base substitution T C downstream_gene_variant LIRI-JP 3 112257860 112257860 single base substitution T C intron_variant LIRI-JP 3 112257860 112257860 single base substitution T C upstream_gene_variant LIRI-JP 3 112261377 112261377 single base substitution T C downstream_gene_variant LIRI-JP 3 112261377 112261377 single base substitution T C intron_variant LIRI-JP 3 112261377 112261377 single base substitution T C upstream_gene_variant LIRI-JP 3 112262719 112262719 single base substitution T C downstream_gene_variant LIRI-JP 3 112262719 112262719 single base substitution T C intron_variant LIRI-JP 3 112264922 112264922 single base substitution C T intron_variant LIRI-JP 3 112265803 112265803 single base substitution G A intron_variant LIRI-JP 3 112270994 112270994 single base substitution T C intron_variant LIRI-JP 3 112271083 112271083 single base substitution T C intron_variant LIRI-JP 3 112272863 112272863 single base substitution T C downstream_gene_variant LIRI-JP 3 112272863 112272863 single base substitution T C intron_variant LIRI-JP 3 112272944 112272944 single base substitution A G downstream_gene_variant LIRI-JP 3 112272944 112272944 single base substitution A G intron_variant LIRI-JP 3 112273199 112273199 single base substitution C A downstream_gene_variant LIRI-JP 3 112273199 112273199 single base substitution C A intron_variant LIRI-JP 3 112273714 112273714 single base substitution T C downstream_gene_variant LIRI-JP 3 112273714 112273714 single base substitution T C intron_variant LIRI-JP 3 112274771 112274771 single base substitution A T downstream_gene_variant LIRI-JP 3 112274771 112274771 single base substitution A T intron_variant LIRI-JP 3 112275473 112275473 single base substitution C T downstream_gene_variant LIRI-JP 3 112275473 112275473 single base substitution C T intron_variant LIRI-JP 3 112276523 112276523 single base substitution G A downstream_gene_variant LIRI-JP 3 112276523 112276523 single base substitution G A intron_variant LIRI-JP 3 112276533 112276533 single base substitution A C downstream_gene_variant LIRI-JP 3 112276533 112276533 single base substitution A C intron_variant LIRI-JP 3 112277229 112277229 single base substitution T C 5_prime_UTR_variant LIRI-JP 3 112277229 112277229 single base substitution T C exon_variant LIRI-JP 3 112277229 112277229 single base substitution T C synonymous_variant P36P 108A>G LIRI-JP 3 112278042 112278042 single base substitution T C intron_variant LIRI-JP 3 112281138 112281138 single base substitution G T upstream_gene_variant LIRI-JP 3 112281740 112281740 single base substitution C T upstream_gene_variant LIRI-JP 3 112283832 112283832 single base substitution C T upstream_gene_variant LIRI-JP 3 112284273 112284273 single base substitution G A upstream_gene_variant LUSC-KR 3 112249373 112249373 single base substitution G A downstream_gene_variant LUSC-KR 3 112251371 112251371 single base substitution T C 3_prime_UTR_variant LUSC-KR 3 112251371 112251371 single base substitution T C downstream_gene_variant LUSC-KR 3 112251371 112251371 single base substitution T C exon_variant LUSC-KR 3 112253381 112253381 single base substitution C T downstream_gene_variant LUSC-KR 3 112253381 112253381 single base substitution C T exon_variant LUSC-KR 3 112253381 112253381 single base substitution C T intron_variant LUSC-KR 3 112255108 112255108 single base substitution T A downstream_gene_variant LUSC-KR 3 112255108 112255108 single base substitution T A exon_variant LUSC-KR 3 112255108 112255108 single base substitution T A intron_variant LUSC-KR 3 112255268 112255268 single base substitution T C downstream_gene_variant LUSC-KR 3 112255268 112255268 single base substitution T C exon_variant LUSC-KR 3 112255268 112255268 single base substitution T C intron_variant LUSC-KR 3 112257028 112257028 single base substitution C T exon_variant LUSC-KR 3 112257028 112257028 single base substitution C T splice_acceptor_variant LUSC-KR 3 112257028 112257028 single base substitution C T upstream_gene_variant LUSC-KR 3 112257948 112257948 single base substitution G A downstream_gene_variant LUSC-KR 3 112257948 112257948 single base substitution G A intron_variant LUSC-KR 3 112257948 112257948 single base substitution G A upstream_gene_variant LUSC-KR 3 112265466 112265466 single base substitution G A intron_variant LUSC-KR 3 112273725 112273725 single base substitution T A downstream_gene_variant LUSC-KR 3 112273725 112273725 single base substitution T A intron_variant LUSC-KR 3 112278606 112278606 single base substitution G C intron_variant LUSC-KR 3 112279760 112279760 single base substitution G C intron_variant LUSC-KR 3 112281075 112281075 single base substitution C T upstream_gene_variant LUSC-US 3 112267419 112267419 single base substitution C T 3_prime_UTR_variant LUSC-US 3 112267419 112267419 single base substitution C T exon_variant LUSC-US 3 112267419 112267419 single base substitution C T missense_variant D102N 304G>A LUSC-US 3 112267419 112267419 single base substitution C T missense_variant D15N 43G>A LUSC-US 3 112267449 112267449 single base substitution C T exon_variant LUSC-US 3 112267449 112267449 single base substitution C T missense_variant D5N 13G>A LUSC-US 3 112267449 112267449 single base substitution C T missense_variant D92N 274G>A MALY-DE 3 112246793 112246793 deletion of <=200bp A - downstream_gene_variant MALY-DE 3 112255578 112255578 single base substitution C T downstream_gene_variant MALY-DE 3 112255578 112255578 single base substitution C T exon_variant MALY-DE 3 112255578 112255578 single base substitution C T intron_variant MALY-DE 3 112255896 112255896 single base substitution T C downstream_gene_variant MALY-DE 3 112255896 112255896 single base substitution T C intron_variant MALY-DE 3 112255896 112255896 single base substitution T C upstream_gene_variant MALY-DE 3 112279247 112279247 single base substitution C A intron_variant MELA-AU 3 112246665 112246665 single base substitution G A downstream_gene_variant MELA-AU 3 112247087 112247087 single base substitution G A downstream_gene_variant MELA-AU 3 112247143 112247144 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 3 112247234 112247234 single base substitution T C downstream_gene_variant MELA-AU 3 112247406 112247406 single base substitution G A downstream_gene_variant MELA-AU 3 112247905 112247905 single base substitution C T downstream_gene_variant MELA-AU 3 112248041 112248041 single base substitution G A downstream_gene_variant MELA-AU 3 112248228 112248228 single base substitution G A downstream_gene_variant MELA-AU 3 112248262 112248262 single base substitution G T downstream_gene_variant MELA-AU 3 112248325 112248325 single base substitution G C downstream_gene_variant MELA-AU 3 112248329 112248329 single base substitution G A downstream_gene_variant MELA-AU 3 112248783 112248783 single base substitution G A downstream_gene_variant MELA-AU 3 112249260 112249260 single base substitution G A downstream_gene_variant MELA-AU 3 112250054 112250054 single base substitution T C downstream_gene_variant MELA-AU 3 112251029 112251029 single base substitution A C downstream_gene_variant MELA-AU 3 112251338 112251338 deletion of <=200bp A - downstream_gene_variant MELA-AU 3 112252121 112252121 single base substitution G A 3_prime_UTR_variant MELA-AU 3 112252121 112252121 single base substitution G A downstream_gene_variant MELA-AU 3 112252121 112252121 single base substitution G A intron_variant MELA-AU 3 112253035 112253035 single base substitution C T 3_prime_UTR_variant MELA-AU 3 112253035 112253035 single base substitution C T downstream_gene_variant MELA-AU 3 112253035 112253035 single base substitution C T intron_variant MELA-AU 3 112253553 112253553 single base substitution A T downstream_gene_variant MELA-AU 3 112253553 112253553 single base substitution A T exon_variant MELA-AU 3 112253553 112253553 single base substitution A T intron_variant MELA-AU 3 112253943 112253943 single base substitution T C downstream_gene_variant MELA-AU 3 112253943 112253943 single base substitution T C exon_variant MELA-AU 3 112253943 112253943 single base substitution T C intron_variant MELA-AU 3 112254066 112254066 single base substitution G A downstream_gene_variant MELA-AU 3 112254066 112254066 single base substitution G A exon_variant MELA-AU 3 112254066 112254066 single base substitution G A intron_variant MELA-AU 3 112254262 112254262 single base substitution T C downstream_gene_variant MELA-AU 3 112254262 112254262 single base substitution T C exon_variant MELA-AU 3 112254262 112254262 single base substitution T C intron_variant MELA-AU 3 112254568 112254568 single base substitution G A downstream_gene_variant MELA-AU 3 112254568 112254568 single base substitution G A exon_variant MELA-AU 3 112254568 112254568 single base substitution G A intron_variant MELA-AU 3 112255091 112255091 single base substitution G A downstream_gene_variant MELA-AU 3 112255091 112255091 single base substitution G A exon_variant MELA-AU 3 112255091 112255091 single base substitution G A intron_variant MELA-AU 3 112255453 112255453 single base substitution A C downstream_gene_variant MELA-AU 3 112255453 112255453 single base substitution A C exon_variant MELA-AU 3 112255453 112255453 single base substitution A C intron_variant MELA-AU 3 112255453 112255453 single base substitution A C splice_region_variant MELA-AU 3 112255914 112255914 single base substitution G A downstream_gene_variant MELA-AU 3 112255914 112255914 single base substitution G A intron_variant MELA-AU 3 112255914 112255914 single base substitution G A upstream_gene_variant MELA-AU 3 112256328 112256328 single base substitution A G downstream_gene_variant MELA-AU 3 112256328 112256328 single base substitution A G intron_variant MELA-AU 3 112256328 112256328 single base substitution A G upstream_gene_variant MELA-AU 3 112256516 112256517 multiple base substitution (>=2bp and <=200bp) GA AT downstream_gene_variant MELA-AU 3 112256516 112256517 multiple base substitution (>=2bp and <=200bp) GA AT exon_variant MELA-AU 3 112256516 112256517 multiple base substitution (>=2bp and <=200bp) GA AT intron_variant MELA-AU 3 112256516 112256517 multiple base substitution (>=2bp and <=200bp) GA AT upstream_gene_variant MELA-AU 3 112256701 112256701 single base substitution T A 3_prime_UTR_variant MELA-AU 3 112256701 112256701 single base substitution T A downstream_gene_variant MELA-AU 3 112256701 112256701 single base substitution T A exon_variant MELA-AU 3 112256701 112256701 single base substitution T A stop_gained K183* 547A>T MELA-AU 3 112256701 112256701 single base substitution T A upstream_gene_variant MELA-AU 3 112257446 112257446 single base substitution C A intron_variant MELA-AU 3 112257446 112257446 single base substitution C A upstream_gene_variant MELA-AU 3 112258101 112258101 single base substitution C A downstream_gene_variant MELA-AU 3 112258101 112258101 single base substitution C A intron_variant MELA-AU 3 112258101 112258101 single base substitution C A upstream_gene_variant MELA-AU 3 112259091 112259091 single base substitution G A downstream_gene_variant MELA-AU 3 112259091 112259091 single base substitution G A intron_variant MELA-AU 3 112259091 112259091 single base substitution G A upstream_gene_variant MELA-AU 3 112263352 112263352 single base substitution T C intron_variant MELA-AU 3 112263505 112263505 single base substitution G A intron_variant MELA-AU 3 112263945 112263945 single base substitution C T intron_variant MELA-AU 3 112264794 112264794 single base substitution G A intron_variant MELA-AU 3 112264983 112264983 single base substitution A T intron_variant MELA-AU 3 112265881 112265881 single base substitution A T intron_variant MELA-AU 3 112266292 112266292 single base substitution C T intron_variant MELA-AU 3 112266303 112266303 single base substitution G A intron_variant MELA-AU 3 112266313 112266314 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 112267794 112267794 single base substitution T C intron_variant MELA-AU 3 112267922 112267922 single base substitution A G intron_variant MELA-AU 3 112269700 112269700 single base substitution C T intron_variant MELA-AU 3 112270021 112270021 single base substitution G A intron_variant MELA-AU 3 112270076 112270076 single base substitution A T intron_variant MELA-AU 3 112270294 112270294 single base substitution G A intron_variant MELA-AU 3 112270697 112270697 single base substitution G A intron_variant MELA-AU 3 112271129 112271129 single base substitution G A intron_variant MELA-AU 3 112271517 112271517 single base substitution G A intron_variant MELA-AU 3 112271985 112271985 single base substitution G C downstream_gene_variant MELA-AU 3 112271985 112271985 single base substitution G C intron_variant MELA-AU 3 112272210 112272210 single base substitution G A downstream_gene_variant MELA-AU 3 112272210 112272210 single base substitution G A intron_variant MELA-AU 3 112272287 112272287 single base substitution C T downstream_gene_variant MELA-AU 3 112272287 112272287 single base substitution C T intron_variant MELA-AU 3 112274440 112274440 single base substitution A G downstream_gene_variant MELA-AU 3 112274440 112274440 single base substitution A G intron_variant MELA-AU 3 112274446 112274446 single base substitution G C downstream_gene_variant MELA-AU 3 112274446 112274446 single base substitution G C intron_variant MELA-AU 3 112274600 112274600 single base substitution G C downstream_gene_variant MELA-AU 3 112274600 112274600 single base substitution G C intron_variant MELA-AU 3 112274687 112274687 single base substitution C T downstream_gene_variant MELA-AU 3 112274687 112274687 single base substitution C T intron_variant MELA-AU 3 112275229 112275229 single base substitution G A downstream_gene_variant MELA-AU 3 112275229 112275229 single base substitution G A intron_variant MELA-AU 3 112276373 112276373 single base substitution G A downstream_gene_variant MELA-AU 3 112276373 112276373 single base substitution G A intron_variant MELA-AU 3 112277049 112277049 single base substitution G A exon_variant MELA-AU 3 112277049 112277049 single base substitution G A intron_variant MELA-AU 3 112277267 112277267 single base substitution A G intron_variant MELA-AU 3 112277267 112277267 single base substitution A G splice_region_variant MELA-AU 3 112278496 112278496 single base substitution A G intron_variant MELA-AU 3 112279878 112279878 single base substitution G A intron_variant MELA-AU 3 112279929 112279929 deletion of <=200bp A - intron_variant MELA-AU 3 112280834 112280834 single base substitution G A 5_prime_UTR_variant MELA-AU 3 112280834 112280834 single base substitution G A upstream_gene_variant MELA-AU 3 112280876 112280876 single base substitution C T 5_prime_UTR_variant MELA-AU 3 112280876 112280876 single base substitution C T upstream_gene_variant MELA-AU 3 112281547 112281547 single base substitution C T upstream_gene_variant MELA-AU 3 112282150 112282150 single base substitution C T upstream_gene_variant MELA-AU 3 112282733 112282733 single base substitution G T upstream_gene_variant MELA-AU 3 112282811 112282811 single base substitution G A upstream_gene_variant MELA-AU 3 112283323 112283323 single base substitution C T upstream_gene_variant MELA-AU 3 112283758 112283758 single base substitution T C upstream_gene_variant MELA-AU 3 112284029 112284029 single base substitution T C upstream_gene_variant MELA-AU 3 112284747 112284748 multiple base substitution (>=2bp and <=200bp) CT TC upstream_gene_variant ORCA-IN 3 112272612 112272612 single base substitution C A downstream_gene_variant ORCA-IN 3 112272612 112272612 single base substitution C A intron_variant ORCA-IN 3 112273617 112273621 deletion of <=200bp TAGTT - downstream_gene_variant ORCA-IN 3 112273617 112273621 deletion of <=200bp TAGTT - intron_variant ORCA-IN 3 112281425 112281425 single base substitution A G upstream_gene_variant ORCA-IN 3 112282255 112282255 single base substitution A G upstream_gene_variant OV-AU 3 112253383 112253383 single base substitution C A downstream_gene_variant OV-AU 3 112253383 112253383 single base substitution C A exon_variant OV-AU 3 112253383 112253383 single base substitution C A intron_variant OV-AU 3 112260433 112260433 single base substitution G A downstream_gene_variant OV-AU 3 112260433 112260433 single base substitution G A intron_variant OV-AU 3 112260433 112260433 single base substitution G A upstream_gene_variant OV-AU 3 112264197 112264197 single base substitution A C intron_variant OV-AU 3 112265501 112265501 single base substitution G C intron_variant OV-AU 3 112273819 112273819 single base substitution T C downstream_gene_variant OV-AU 3 112273819 112273819 single base substitution T C intron_variant OV-AU 3 112278596 112278596 single base substitution A T intron_variant OV-US 3 112253138 112253138 single base substitution C A downstream_gene_variant OV-US 3 112253138 112253138 single base substitution C A exon_variant OV-US 3 112253138 112253138 single base substitution C A missense_variant G281W 841G>T PACA-AU 3 112254865 112254865 single base substitution A G downstream_gene_variant PACA-AU 3 112254865 112254865 single base substitution A G exon_variant PACA-AU 3 112254865 112254865 single base substitution A G intron_variant PACA-AU 3 112260854 112260854 single base substitution C T downstream_gene_variant PACA-AU 3 112260854 112260854 single base substitution C T intron_variant PACA-AU 3 112260854 112260854 single base substitution C T upstream_gene_variant PACA-AU 3 112265453 112265453 single base substitution A G intron_variant PACA-AU 3 112275495 112275495 single base substitution G A downstream_gene_variant PACA-AU 3 112275495 112275495 single base substitution G A intron_variant PACA-AU 3 112282295 112282295 single base substitution A C upstream_gene_variant PACA-CA 3 112248435 112248435 single base substitution C T downstream_gene_variant PACA-CA 3 112251555 112251555 single base substitution G A 3_prime_UTR_variant PACA-CA 3 112251555 112251555 single base substitution G A downstream_gene_variant PACA-CA 3 112251555 112251555 single base substitution G A exon_variant PACA-CA 3 112251555 112251555 single base substitution G A synonymous_variant F312F 936C>T PACA-CA 3 112251556 112251556 single base substitution A T 3_prime_UTR_variant PACA-CA 3 112251556 112251556 single base substitution A T downstream_gene_variant PACA-CA 3 112251556 112251556 single base substitution A T exon_variant PACA-CA 3 112251556 112251556 single base substitution A T missense_variant F312Y 935T>A PACA-CA 3 112251716 112251750 deletion of <=200bp AATTTCTCAAAAAAACCCCACAAAATCTTAAATTA - 3_prime_UTR_variant PACA-CA 3 112251716 112251750 deletion of <=200bp AATTTCTCAAAAAAACCCCACAAAATCTTAAATTA - downstream_gene_variant PACA-CA 3 112251716 112251750 deletion of <=200bp AATTTCTCAAAAAAACCCCACAAAATCTTAAATTA - intron_variant PACA-CA 3 112251759 112251759 deletion of <=200bp A - 3_prime_UTR_variant PACA-CA 3 112251759 112251759 deletion of <=200bp A - downstream_gene_variant PACA-CA 3 112251759 112251759 deletion of <=200bp A - intron_variant PACA-CA 3 112252158 112252158 single base substitution G C 3_prime_UTR_variant PACA-CA 3 112252158 112252158 single base substitution G C downstream_gene_variant PACA-CA 3 112252158 112252158 single base substitution G C intron_variant PACA-CA 3 112256003 112256003 insertion of <=200bp - A downstream_gene_variant PACA-CA 3 112256003 112256003 insertion of <=200bp - A intron_variant PACA-CA 3 112256003 112256003 insertion of <=200bp - A upstream_gene_variant PACA-CA 3 112258075 112258075 insertion of <=200bp - AAAC downstream_gene_variant PACA-CA 3 112258075 112258075 insertion of <=200bp - AAAC intron_variant PACA-CA 3 112258075 112258075 insertion of <=200bp - AAAC upstream_gene_variant PACA-CA 3 112259387 112259387 single base substitution C T downstream_gene_variant PACA-CA 3 112259387 112259387 single base substitution C T intron_variant PACA-CA 3 112259387 112259387 single base substitution C T upstream_gene_variant PACA-CA 3 112259677 112259677 single base substitution G A downstream_gene_variant PACA-CA 3 112259677 112259677 single base substitution G A intron_variant PACA-CA 3 112259677 112259677 single base substitution G A upstream_gene_variant PACA-CA 3 112264983 112264983 deletion of <=200bp A - intron_variant PACA-CA 3 112273831 112273831 single base substitution A T downstream_gene_variant PACA-CA 3 112273831 112273831 single base substitution A T intron_variant PACA-CA 3 112278940 112278940 single base substitution T C intron_variant PACA-CA 3 112282143 112282143 single base substitution A T upstream_gene_variant PACA-CA 3 112282163 112282163 single base substitution C T upstream_gene_variant PACA-CA 3 112283924 112283924 single base substitution C A upstream_gene_variant PACA-CA 3 112284627 112284627 single base substitution G A upstream_gene_variant PAEN-AU 3 112248584 112248584 single base substitution G A downstream_gene_variant PAEN-AU 3 112254856 112254856 single base substitution G A downstream_gene_variant PAEN-AU 3 112254856 112254856 single base substitution G A exon_variant PAEN-AU 3 112254856 112254856 single base substitution G A intron_variant PAEN-AU 3 112268649 112268649 single base substitution A C intron_variant PAEN-IT 3 112282208 112282208 single base substitution C T upstream_gene_variant PBCA-DE 3 112256165 112256165 single base substitution A G downstream_gene_variant PBCA-DE 3 112256165 112256165 single base substitution A G intron_variant PBCA-DE 3 112256165 112256165 single base substitution A G upstream_gene_variant PBCA-DE 3 112258724 112258724 single base substitution T A downstream_gene_variant PBCA-DE 3 112258724 112258724 single base substitution T A intron_variant PBCA-DE 3 112258724 112258724 single base substitution T A upstream_gene_variant PBCA-DE 3 112265688 112265688 single base substitution G A intron_variant PBCA-DE 3 112270640 112270640 single base substitution T A intron_variant PBCA-DE 3 112279429 112279429 insertion of <=200bp - A intron_variant PBCA-DE 3 112281350 112281350 single base substitution G T upstream_gene_variant PRAD-CA 3 112255543 112255543 single base substitution C T downstream_gene_variant PRAD-CA 3 112255543 112255543 single base substitution C T exon_variant PRAD-CA 3 112255543 112255543 single base substitution C T intron_variant PRAD-CA 3 112261847 112261847 single base substitution C A downstream_gene_variant PRAD-CA 3 112261847 112261847 single base substitution C A intron_variant PRAD-CA 3 112261847 112261847 single base substitution C A upstream_gene_variant PRAD-CA 3 112267935 112267935 single base substitution A T intron_variant PRAD-CA 3 112272598 112272598 single base substitution T A downstream_gene_variant PRAD-CA 3 112272598 112272598 single base substitution T A intron_variant PRAD-CA 3 112278325 112278325 single base substitution A C intron_variant PRAD-UK 3 112251723 112251723 insertion of <=200bp - A 3_prime_UTR_variant PRAD-UK 3 112251723 112251723 insertion of <=200bp - A downstream_gene_variant PRAD-UK 3 112251723 112251723 insertion of <=200bp - A intron_variant PRAD-UK 3 112261083 112261083 single base substitution T C downstream_gene_variant PRAD-UK 3 112261083 112261083 single base substitution T C intron_variant PRAD-UK 3 112261083 112261083 single base substitution T C upstream_gene_variant RECA-EU 3 112247439 112247439 single base substitution T C downstream_gene_variant RECA-EU 3 112273394 112273394 single base substitution C A downstream_gene_variant RECA-EU 3 112273394 112273394 single base substitution C A intron_variant RECA-EU 3 112273395 112273395 single base substitution C T downstream_gene_variant RECA-EU 3 112273395 112273395 single base substitution C T intron_variant RECA-EU 3 112277854 112277854 single base substitution G T intron_variant RECA-EU 3 112281500 112281500 single base substitution C A upstream_gene_variant SKCA-BR 3 112248630 112248630 single base substitution G A downstream_gene_variant SKCA-BR 3 112248631 112248631 single base substitution G A downstream_gene_variant SKCA-BR 3 112249261 112249262 deletion of <=200bp GC - downstream_gene_variant SKCA-BR 3 112251056 112251056 single base substitution T A downstream_gene_variant SKCA-BR 3 112253623 112253626 deletion of <=200bp TAAA - downstream_gene_variant SKCA-BR 3 112253623 112253626 deletion of <=200bp TAAA - exon_variant SKCA-BR 3 112253623 112253626 deletion of <=200bp TAAA - intron_variant SKCA-BR 3 112263505 112263505 insertion of <=200bp - GAAAAA intron_variant SKCA-BR 3 112271495 112271495 single base substitution A G intron_variant SKCA-BR 3 112271496 112271496 insertion of <=200bp - ATT intron_variant SKCA-BR 3 112272424 112272424 single base substitution C T downstream_gene_variant SKCA-BR 3 112272424 112272424 single base substitution C T intron_variant SKCA-BR 3 112272647 112272647 single base substitution T A downstream_gene_variant SKCA-BR 3 112272647 112272647 single base substitution T A intron_variant SKCA-BR 3 112275423 112275423 single base substitution A G downstream_gene_variant SKCA-BR 3 112275423 112275423 single base substitution A G intron_variant SKCA-BR 3 112279269 112279269 single base substitution G A intron_variant SKCA-BR 3 112279626 112279626 single base substitution T A intron_variant SKCA-BR 3 112280874 112280874 single base substitution T C 5_prime_UTR_variant SKCA-BR 3 112280874 112280874 single base substitution T C upstream_gene_variant SKCM-US 3 112251591 112251591 single base substitution G A 3_prime_UTR_variant SKCM-US 3 112251591 112251591 single base substitution G A downstream_gene_variant SKCM-US 3 112251591 112251591 single base substitution G A exon_variant SKCM-US 3 112251591 112251591 single base substitution G A synonymous_variant V300V 900C>T STAD-US 3 112277267 112277267 deletion of <=200bp A - intron_variant STAD-US 3 112277267 112277267 deletion of <=200bp A - splice_region_variant STAD-US 3 112282265 112282265 single base substitution C A upstream_gene_variant UCEC-US 3 112253070 112253070 single base substitution C T downstream_gene_variant UCEC-US 3 112253070 112253070 single base substitution C T intron_variant UCEC-US 3 112253070 112253070 single base substitution C T synonymous_variant T303T 909G>A UCEC-US 3 112253160 112253160 single base substitution G T downstream_gene_variant UCEC-US 3 112253160 112253160 single base substitution G T exon_variant UCEC-US 3 112253160 112253160 single base substitution G T synonymous_variant I273I 819C>A UCEC-US 3 112255446 112255446 single base substitution G A downstream_gene_variant UCEC-US 3 112255446 112255446 single base substitution G A exon_variant UCEC-US 3 112255446 112255446 single base substitution G A missense_variant R224W 670C>T UCEC-US 3 112256681 112256681 single base substitution G A 3_prime_UTR_variant UCEC-US 3 112256681 112256681 single base substitution G A downstream_gene_variant UCEC-US 3 112256681 112256681 single base substitution G A exon_variant UCEC-US 3 112256681 112256681 single base substitution G A synonymous_variant G189G 567C>T UCEC-US 3 112256681 112256681 single base substitution G A upstream_gene_variant UCEC-US 3 112267473 112267473 single base substitution G A 5_prime_UTR_variant UCEC-US 3 112267473 112267473 single base substitution G A exon_variant UCEC-US 3 112267473 112267473 single base substitution G A intron_variant UCEC-US 3 112267473 112267473 single base substitution G A missense_variant R84W 250C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand CHC1708T COSM4949461 c.344_353del10 p.G115fs*2 Deletion - Frameshift 3:112544097-112544106 - TCGA-13-0804-01 COSM73766 c.841G>T p.G281W Substitution - Missense 3:112534291-112534291 - TCGA-DK-A3IS-01 COSM1308395 c.715G>C p.D239H Substitution - Missense 3:112536554-112536554 - T3225 COSM4664025 c.719A>G p.H240R Substitution - Missense 3:112536550-112536550 - Pat_65_A COSM5863203 c.73G>A p.E25K Substitution - Missense 3:112558417-112558417 - CHC1148T COSM4954647 c.110A>G p.E37G Substitution - Missense 3:112558380-112558380 - HCC138T COSM5819200 c.262A>C p.M88L Substitution - Missense 3:112548614-112548614 - TCGA-CZ-5463-01 COSM479215 c.555A>C p.K185N Substitution - Missense 3:112537846-112537846 - TCGA-22-4613-01 COSM727232 c.274G>A p.D92N Substitution - Missense 3:112548602-112548602 - TCGA-EK-A2RD-01 COSM4820259 c.439G>A p.E147K Substitution - Missense 3:112541839-112541839 - 18 COSM77307 c.35C>T p.A12V Substitution - Missense 3:112561494-112561494 - LUAD-NYU575 COSM375064 c.320G>T p.W107L Substitution - Missense 3:112548556-112548556 - TCGA-39-5029-01 COSM727233 c.304G>A p.D102N Substitution - Missense 3:112548572-112548572 - TCGA-09-1666-01 COSM77307 c.35C>T p.A12V Substitution - Missense 3:112561494-112561494 - TCGA-AP-A056-01 COSM1036378 c.819C>A p.I273I Substitution - coding silent 3:112534313-112534313 - PD4121a COSM159248 c.678T>G p.P226P Substitution - coding silent 3:112536591-112536591 - TCGA-AN-A0FL-01 COSM445307 c.559G>C p.D187H Substitution - Missense 3:112537842-112537842 - 1517_PT COSM5756143 c.833C>T p.A278V Substitution - Missense 3:112534299-112534299 - SC_9047 COSM5567868 c.778T>A p.S260T Substitution - Missense 3:112536491-112536491 - TCGA-AP-A051-01 COSM1036379 c.670C>T p.R224W Substitution - Missense 3:112536599-112536599 - HCC41 COSM1616725 c.603C>A p.D201E Substitution - Missense 3:112537798-112537798 - TCGA-Q1-A73O-01 COSM4835341 c.419C>T p.S140L Substitution - Missense 3:112541859-112541859 - CHC1148T COSM4954753 c.109G>A p.E37K Substitution - Missense 3:112558381-112558381 - CHC1708T COSM4949461 c.344_353del10 p.G115fs*2 Deletion - Frameshift 3:112544097-112544106 - pfg097T COSM4760189 c.860A>T p.H287L Substitution - Missense 3:112534272-112534272 - TCGA-AP-A059-01 COSM1036381 c.250C>T p.R84W Substitution - Missense 3:112548626-112548626 - HCC061T COSM5805715 c.344-2A>T p.? Unknown 3:112544108-112544108 - XHDG22 COSM4768973 c.481G>T p.E161* Substitution - Nonsense 3:112538175-112538175 - CHC1148T COSM4954647 c.110A>G p.E37G Substitution - Missense 3:112558380-112558380 - T3064 COSM4664026 c.360G>A p.T120T Substitution - coding silent 3:112544090-112544090 - HCC41T COSM1616725 c.603C>A p.D201E Substitution - Missense 3:112537798-112537798 - PT37 COSM5917973 c.859C>T p.H287Y Substitution - Missense 3:112534273-112534273 - CHC1148T COSM4954753 c.109G>A p.E37K Substitution - Missense 3:112558381-112558381 - 73 COSM4945309 c.228C>A p.T76T Substitution - coding silent 3:112550199-112550199 - PCSI_0093_Pa_X COSM3380337 c.936C>T p.F312F Substitution - coding silent 3:112532708-112532708 - PCSI_0093_Pa_X COSM3380338 c.935T>A p.F312Y Substitution - Missense 3:112532709-112532709 - PD9000a COSM4954753 c.109G>A p.E37K Substitution - Missense 3:112558381-112558381 - pfg127T COSM4760192 c.159G>A p.W53* Substitution - Nonsense 3:112553285-112553285 - TCGA-AA-3492-01 COSM5829564 c.73-3delT p.? Unknown 3:112558420-112558420 - H2009 COSM1193796 c.373G>C p.E125Q Substitution - Missense 3:112544077-112544077 - TCGA-AC-A23H-01 COSM3845827 c.601G>A p.D201N Substitution - Missense 3:112537800-112537800 - RK285_C01 COSM4779020 c.108A>G p.P36P Substitution - coding silent 3:112558382-112558382 - Au3 COSM5601063 c.578C>T p.A193V Substitution - Missense 3:112537823-112537823 - PTC-14C COSM4157130 c.818T>A p.I273N Substitution - Missense 3:112534314-112534314 - 1517_CLM COSM5756143 c.833C>T p.A278V Substitution - Missense 3:112534299-112534299 - T3724 COSM4664027 c.233_234insA p.N78fs*6 Insertion - Frameshift 3:112550193-112550194 - 18 COSM5744784 c.794G>T p.R265M Substitution - Missense 3:112536475-112536475 - TCGA-CM-5341-01 COSM1417792 c.641G>T p.R214L Substitution - Missense 3:112537760-112537760 - WSU-HN30 COSM4600446 c.376A>G p.I126V Substitution - Missense 3:112544074-112544074 - TCGA-FW-A3R5-06 COSM3914551 c.900C>T p.V300V Substitution - coding silent 3:112532744-112532744 - 2521259 COSM5889891 c.748C>T p.H250Y Substitution - Missense 3:112536521-112536521 - TCGA-25-1630-01 COSM77306 c.222G>C p.L74F Substitution - Missense 3:112550205-112550205 - TCGA-B5-A11Y-01 COSM1036380 c.567C>T p.G189G Substitution - coding silent 3:112537834-112537834 - TCGA-BP-4340-01 COSM3364934 c.221T>C p.L74S Substitution - Missense 3:112550206-112550206 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.477115;Hs.477126 3q13.2 609606

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Synonymous p.P226P c.678T>G 3 112255438 BRCA A G Missense p.L74S c.221T>C 3 112269053 RCCC C A IntronicSNV . c.794+514G>T 3 112254808 HC C A Missense p.G281W c.841G>T 3 112253138 OV C A Missense p.Q238H c.714G>T 3 112255402 LUAD C G Missense p.D187H c.559G>C 3 112256689 BRCA C G Missense p.D239H c.715G>C 3 112255401 BLCA C G Missense p.E25Q c.73G>C 3 112277264 LUAD C G Missense p.L74F c.222G>C 3 112269052 OV C T Missense p.D102N c.304G>A 3 112267419 LUSC C T Missense p.D92N c.274G>A 3 112267449 HNSC C T Missense p.D92N c.274G>A 3 112267449 LUSC C T Missense p.G106R c.316G>A 3 112267407 STAD C T Synonymous p.Q211Q c.633G>A 3 112256615 CM CTTCAT - InFrameDeletion p.D150_E151delDE c.449_454delATGAAG 3 112260671 LUAD G A Missense p.A12V c.35C>T 3 112280341 OV G A Synonymous p.G189G c.567C>T 3 112256681 UCEC GG CT Missense p.P36A c.105_106delinsAG 3 112277231 CM G T 3-UTRSNV . c.942+60C>A 3 112251489 CM T C IntronicSNV . c.795-27A>G 3 112253211 CM T G Missense p.K185N c.555A>C 3 112256693 RCCC