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 1190692 1190692 + Missense_Mutation SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 g.chr1:1190692C>T c.671G>A c.(670-672)cGg>cAg p.R224Q BLCA 1 1203256 1203256 + Silent SNP C C T TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 g.chr1:1203256C>T c.117G>A c.(115-117)tcG>tcA p.S39S BRCA 1 1190626 1190626 + Missense_Mutation SNP G G A TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 g.chr1:1190626G>A c.737C>T c.(736-738)gCt>gTt p.A246V BRCA 1 1190722 1190722 + Missense_Mutation SNP G G T TCGA-C8-A274-01A-11D-A16D-09 TCGA-C8-A274-10A-01D-A16D-09 g.chr1:1190722G>T c.641C>A c.(640-642)cCa>cAa p.P214Q CESC 1 1203290 1203290 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 g.chr1:1203290G>A c.83C>T c.(82-84)cCg>cTg p.P28L CESC 1 1203298 1203298 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chr1:1203298C>G c.75G>C c.(73-75)aaG>aaC p.K25N CESC 1 1203343 1203343 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chr1:1203343C>T c.30G>A c.(28-30)ccG>ccA p.P10P COAD 1 1190595 1190595 + Silent SNP G G A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr1:1190595G>A c.768C>T c.(766-768)atC>atT p.I256I COAD 1 1190801 1190801 + Missense_Mutation SNP C C A TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr1:1190801C>A c.562G>T c.(562-564)Gac>Tac p.D188Y COAD 1 1191430 1191430 + Missense_Mutation SNP C C T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr1:1191430C>T c.490G>A c.(490-492)Gtg>Atg p.V164M COAD 1 1192624 1192624 + Missense_Mutation SNP A A G TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr1:1192624A>G c.239T>C c.(238-240)aTg>aCg p.M80T COADREAD 1 1190595 1190595 + Silent SNP G G A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr1:1190595G>A c.768C>T c.(766-768)atC>atT p.I256I COADREAD 1 1190801 1190801 + Missense_Mutation SNP C C A TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr1:1190801C>A c.562G>T c.(562-564)Gac>Tac p.D188Y COADREAD 1 1191430 1191430 + Missense_Mutation SNP C C T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr1:1191430C>T c.490G>A c.(490-492)Gtg>Atg p.V164M COADREAD 1 1192624 1192624 + Missense_Mutation SNP A A G TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr1:1192624A>G c.239T>C c.(238-240)aTg>aCg p.M80T GBMLGG 1 1192381 1192381 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:1192381C>T c.405G>A c.(403-405)tcG>tcA p.S135S HNSC 1 1191442 1191443 + Frame_Shift_Del DEL AT AT - TCGA-CV-7236-01A-11D-2012-08 TCGA-CV-7236-10A-01D-2013-08 g.chr1:1191442_1191443delAT c.477_478delAT c.(475-480)ttatttfs p.L159fs KIPAN 1 1198752 1198752 + Missense_Mutation SNP C C T TCGA-A3-3387-01A-01D-1534-10 TCGA-A3-3387-11A-01D-1534-10 g.chr1:1198752C>T c.146G>A c.(145-147)cGa>cAa p.R49Q KIRC 1 1198752 1198752 + Missense_Mutation SNP C C T TCGA-A3-3387-01A-01D-1534-10 TCGA-A3-3387-11A-01D-1534-10 g.chr1:1198752C>T c.146G>A c.(145-147)cGa>cAa p.R49Q LGG 1 1192381 1192381 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:1192381C>T c.405G>A c.(403-405)tcG>tcA p.S135S LIHC 1 1190842 1190842 + Missense_Mutation SNP T T A TCGA-BC-4073-01B-02D-A12Z-10 TCGA-BC-4073-10A-01D-A12Z-10 g.chr1:1190842T>A c.521A>T c.(520-522)cAa>cTa p.Q174L LIHC 1 1192490 1192490 + Missense_Mutation SNP T T C TCGA-BC-A10W-01A-11D-A12Z-10 TCGA-BC-A10W-11A-11D-A12Z-10 g.chr1:1192490T>C c.296A>G c.(295-297)gAt>gGt p.D99G LUAD 1 1190706 1190706 + Silent SNP G G C TCGA-69-7979-01A-11D-2184-08 TCGA-69-7979-10A-01D-2184-08 g.chr1:1190706G>C c.657C>G c.(655-657)ctC>ctG p.L219L LUAD 1 1190769 1190769 + Silent SNP G G A TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr1:1190769G>A c.594C>T c.(592-594)gtC>gtT p.V198V LUAD 1 1192480 1192480 + Silent SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 g.chr1:1192480C>A c.306G>T c.(304-306)ccG>ccT p.P102P PAAD 1 1191433 1191433 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:1191433C>T c.487G>A c.(487-489)Gtc>Atc p.V163I PAAD 1 1203315 1203315 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:1203315C>A c.58G>T c.(58-60)Gac>Tac p.D20Y SKCM 1 1190811 1190811 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr1:1190811G>A c.552C>T c.(550-552)ctC>ctT p.L184L SKCM 1 1192648 1192648 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 g.chr1:1192648G>A c.215C>T c.(214-216)cCt>cTt p.P72L SKCM 1 1192649 1192649 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 g.chr1:1192649G>A c.214C>T c.(214-216)Cct>Tct p.P72S SKCM 1 1192649 1192649 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 g.chr1:1192649G>A c.214C>T c.(214-216)Cct>Tct p.P72S SKCM 1 1203256 1203256 + Silent SNP C C T TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr1:1203256C>T c.117G>A c.(115-117)tcG>tcA p.S39S SKCM 1 1203257 1203257 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr1:1203257G>A c.116C>T c.(115-117)tCg>tTg p.S39L SKCM 1 1203257 1203257 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-11A-11D-A23B-08 g.chr1:1203257G>A c.116C>T c.(115-117)tCg>tTg p.S39L SKCM 1 1203260 1203260 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 g.chr1:1203260G>A c.113C>T c.(112-114)cCt>cTt p.P38L SKCM 1 1203265 1203265 + Silent SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 g.chr1:1203265G>A c.108C>T c.(106-108)ccC>ccT p.P36P SKCM 1 1203266 1203266 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 g.chr1:1203266G>A c.107C>T c.(106-108)cCc>cTc p.P36L SKCM 1 1203309 1203309 + Missense_Mutation SNP G G A TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr1:1203309G>A c.64C>T c.(64-66)Ctt>Ttt p.L22F

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 1203256 1203256 single base substitution C T 5_prime_UTR_variant BLCA-US 1 1203256 1203256 single base substitution C T exon_variant BLCA-US 1 1203256 1203256 single base substitution C T intron_variant BLCA-US 1 1203256 1203256 single base substitution C T synonymous_variant S39S 117G>A BLCA-US 1 1203256 1203256 single base substitution C T upstream_gene_variant BRCA-EU 1 1185473 1185473 single base substitution G A downstream_gene_variant BRCA-EU 1 1185941 1185941 single base substitution T C downstream_gene_variant BRCA-EU 1 1186220 1186220 single base substitution C T downstream_gene_variant BRCA-EU 1 1186984 1186984 single base substitution C T downstream_gene_variant BRCA-EU 1 1187682 1187682 single base substitution A T downstream_gene_variant BRCA-EU 1 1188677 1188677 single base substitution T C downstream_gene_variant BRCA-EU 1 1189131 1189131 single base substitution C T downstream_gene_variant BRCA-EU 1 1189850 1189850 single base substitution C T 3_prime_UTR_variant BRCA-EU 1 1189850 1189850 single base substitution C T downstream_gene_variant BRCA-EU 1 1191570 1191571 deletion of <=200bp AG - downstream_gene_variant BRCA-EU 1 1191570 1191571 deletion of <=200bp AG - exon_variant BRCA-EU 1 1191570 1191571 deletion of <=200bp AG - intron_variant BRCA-EU 1 1191686 1191686 single base substitution C T downstream_gene_variant BRCA-EU 1 1191686 1191686 single base substitution C T exon_variant BRCA-EU 1 1191686 1191686 single base substitution C T intron_variant BRCA-EU 1 1192135 1192135 single base substitution G A downstream_gene_variant BRCA-EU 1 1192135 1192135 single base substitution G A intron_variant BRCA-EU 1 1192135 1192135 single base substitution G A upstream_gene_variant BRCA-EU 1 1192167 1192167 single base substitution G A downstream_gene_variant BRCA-EU 1 1192167 1192167 single base substitution G A intron_variant BRCA-EU 1 1192167 1192167 single base substitution G A upstream_gene_variant BRCA-EU 1 1192355 1192355 single base substitution G A downstream_gene_variant BRCA-EU 1 1192355 1192355 single base substitution G A intron_variant BRCA-EU 1 1192355 1192355 single base substitution G A upstream_gene_variant BRCA-EU 1 1192565 1192565 single base substitution C T downstream_gene_variant BRCA-EU 1 1192565 1192565 single base substitution C T intron_variant BRCA-EU 1 1192565 1192565 single base substitution C T upstream_gene_variant BRCA-EU 1 1192937 1192937 single base substitution G A intron_variant BRCA-EU 1 1192937 1192937 single base substitution G A upstream_gene_variant BRCA-EU 1 1193282 1193282 single base substitution G A downstream_gene_variant BRCA-EU 1 1193282 1193282 single base substitution G A intron_variant BRCA-EU 1 1193282 1193282 single base substitution G A upstream_gene_variant BRCA-EU 1 1193847 1193847 single base substitution C A downstream_gene_variant BRCA-EU 1 1193847 1193847 single base substitution C A intron_variant BRCA-EU 1 1193847 1193847 single base substitution C A upstream_gene_variant BRCA-EU 1 1195781 1195781 single base substitution G C downstream_gene_variant BRCA-EU 1 1195781 1195781 single base substitution G C intron_variant BRCA-EU 1 1195781 1195781 single base substitution G C upstream_gene_variant BRCA-EU 1 1195803 1195803 single base substitution C T downstream_gene_variant BRCA-EU 1 1195803 1195803 single base substitution C T intron_variant BRCA-EU 1 1195803 1195803 single base substitution C T upstream_gene_variant BRCA-EU 1 1197345 1197345 single base substitution C T downstream_gene_variant BRCA-EU 1 1197345 1197345 single base substitution C T intron_variant BRCA-EU 1 1197399 1197399 single base substitution G A downstream_gene_variant BRCA-EU 1 1197399 1197399 single base substitution G A intron_variant BRCA-EU 1 1199683 1199683 single base substitution C T downstream_gene_variant BRCA-EU 1 1199683 1199683 single base substitution C T intron_variant BRCA-EU 1 1199683 1199683 single base substitution C T upstream_gene_variant BRCA-EU 1 1199928 1199928 single base substitution G C downstream_gene_variant BRCA-EU 1 1199928 1199928 single base substitution G C intron_variant BRCA-EU 1 1199928 1199928 single base substitution G C upstream_gene_variant BRCA-EU 1 1200220 1200220 single base substitution G A downstream_gene_variant BRCA-EU 1 1200220 1200220 single base substitution G A intron_variant BRCA-EU 1 1200220 1200220 single base substitution G A upstream_gene_variant BRCA-EU 1 1200475 1200475 single base substitution G A downstream_gene_variant BRCA-EU 1 1200475 1200475 single base substitution G A intron_variant BRCA-EU 1 1200475 1200475 single base substitution G A upstream_gene_variant BRCA-EU 1 1200626 1200626 single base substitution C A downstream_gene_variant BRCA-EU 1 1200626 1200626 single base substitution C A intron_variant BRCA-EU 1 1200626 1200626 single base substitution C A upstream_gene_variant BRCA-EU 1 1204743 1204743 single base substitution G A intron_variant BRCA-EU 1 1204743 1204743 single base substitution G A upstream_gene_variant BRCA-EU 1 1207750 1207750 single base substitution C G intron_variant BRCA-EU 1 1208019 1208019 single base substitution C G intron_variant BRCA-EU 1 1208112 1208112 single base substitution G A intron_variant BRCA-EU 1 1209084 1209084 single base substitution G C 5_prime_UTR_variant BRCA-EU 1 1209084 1209084 single base substitution G C exon_variant BRCA-EU 1 1209084 1209084 single base substitution G C upstream_gene_variant BRCA-EU 1 1209262 1209262 single base substitution T C 5_prime_UTR_variant BRCA-EU 1 1209262 1209262 single base substitution T C upstream_gene_variant BRCA-EU 1 1210279 1210279 single base substitution G A upstream_gene_variant BRCA-EU 1 1211560 1211560 single base substitution C G upstream_gene_variant BRCA-EU 1 1213609 1213609 single base substitution T A upstream_gene_variant BRCA-EU 1 1213958 1213958 single base substitution C T upstream_gene_variant BRCA-EU 1 1214029 1214029 single base substitution C T upstream_gene_variant BRCA-FR 1 1185473 1185473 single base substitution G A downstream_gene_variant BRCA-FR 1 1192767 1192767 single base substitution C G intron_variant BRCA-FR 1 1192767 1192767 single base substitution C G upstream_gene_variant BRCA-FR 1 1197345 1197345 single base substitution C T downstream_gene_variant BRCA-FR 1 1197345 1197345 single base substitution C T intron_variant BRCA-FR 1 1209084 1209084 single base substitution G C 5_prime_UTR_variant BRCA-FR 1 1209084 1209084 single base substitution G C exon_variant BRCA-FR 1 1209084 1209084 single base substitution G C upstream_gene_variant BRCA-FR 1 1210279 1210279 single base substitution G A upstream_gene_variant BRCA-UK 1 1197399 1197399 single base substitution G A downstream_gene_variant BRCA-UK 1 1197399 1197399 single base substitution G A intron_variant BRCA-US 1 1190626 1190626 single base substitution G A 3_prime_UTR_variant BRCA-US 1 1190626 1190626 single base substitution G A downstream_gene_variant BRCA-US 1 1190626 1190626 single base substitution G A missense_variant A194V 581C>T BRCA-US 1 1190626 1190626 single base substitution G A missense_variant A211V 632C>T BRCA-US 1 1190626 1190626 single base substitution G A missense_variant A246V 737C>T BRCA-US 1 1190626 1190626 single base substitution G A missense_variant A262V 785C>T BRCA-US 1 1190722 1190722 single base substitution G T 3_prime_UTR_variant BRCA-US 1 1190722 1190722 single base substitution G T downstream_gene_variant BRCA-US 1 1190722 1190722 single base substitution G T exon_variant BRCA-US 1 1190722 1190722 single base substitution G T missense_variant P162Q 485C>A BRCA-US 1 1190722 1190722 single base substitution G T missense_variant P179Q 536C>A BRCA-US 1 1190722 1190722 single base substitution G T missense_variant P214Q 641C>A BRCA-US 1 1190722 1190722 single base substitution G T missense_variant P230Q 689C>A BTCA-JP 1 1192772 1192773 deletion of <=200bp CA - intron_variant BTCA-JP 1 1192772 1192773 deletion of <=200bp CA - upstream_gene_variant CESC-US 1 1185370 1185370 insertion of <=200bp - GA downstream_gene_variant CESC-US 1 1203290 1203290 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant CESC-US 1 1203290 1203290 single base substitution G A exon_variant CESC-US 1 1203290 1203290 single base substitution G A intron_variant CESC-US 1 1203290 1203290 single base substitution G A missense_variant P28L 83C>T CESC-US 1 1203290 1203290 single base substitution G A upstream_gene_variant CESC-US 1 1203298 1203298 single base substitution C G 5_prime_UTR_variant CESC-US 1 1203298 1203298 single base substitution C G exon_variant CESC-US 1 1203298 1203298 single base substitution C G intron_variant CESC-US 1 1203298 1203298 single base substitution C G missense_variant K25N 75G>C CESC-US 1 1203298 1203298 single base substitution C G upstream_gene_variant CESC-US 1 1203343 1203343 single base substitution C T 5_prime_UTR_variant CESC-US 1 1203343 1203343 single base substitution C T exon_variant CESC-US 1 1203343 1203343 single base substitution C T intron_variant CESC-US 1 1203343 1203343 single base substitution C T synonymous_variant P10P 30G>A CESC-US 1 1203343 1203343 single base substitution C T upstream_gene_variant CLLE-ES 1 1195869 1195869 insertion of <=200bp - TA downstream_gene_variant CLLE-ES 1 1195869 1195869 insertion of <=200bp - TA intron_variant CLLE-ES 1 1195869 1195869 insertion of <=200bp - TA upstream_gene_variant CLLE-ES 1 1213124 1213124 single base substitution T C upstream_gene_variant COAD-US 1 1190595 1190595 single base substitution G A 3_prime_UTR_variant COAD-US 1 1190595 1190595 single base substitution G A downstream_gene_variant COAD-US 1 1190595 1190595 single base substitution G A synonymous_variant I204I 612C>T COAD-US 1 1190595 1190595 single base substitution G A synonymous_variant I221I 663C>T COAD-US 1 1190595 1190595 single base substitution G A synonymous_variant I256I 768C>T COAD-US 1 1190595 1190595 single base substitution G A synonymous_variant I272I 816C>T COAD-US 1 1191430 1191430 single base substitution C T 3_prime_UTR_variant COAD-US 1 1191430 1191430 single base substitution C T downstream_gene_variant COAD-US 1 1191430 1191430 single base substitution C T exon_variant COAD-US 1 1191430 1191430 single base substitution C T missense_variant V112M 334G>A COAD-US 1 1191430 1191430 single base substitution C T missense_variant V129M 385G>A COAD-US 1 1191430 1191430 single base substitution C T missense_variant V164M 490G>A COAD-US 1 1191430 1191430 single base substitution C T missense_variant V180M 538G>A COAD-US 1 1191430 1191430 single base substitution C T missense_variant V43M 127G>A COAD-US 1 1192624 1192624 single base substitution A G 3_prime_UTR_variant COAD-US 1 1192624 1192624 single base substitution A G downstream_gene_variant COAD-US 1 1192624 1192624 single base substitution A G exon_variant COAD-US 1 1192624 1192624 single base substitution A G intron_variant COAD-US 1 1192624 1192624 single base substitution A G missense_variant M28T 83T>C COAD-US 1 1192624 1192624 single base substitution A G missense_variant M45T 134T>C COAD-US 1 1192624 1192624 single base substitution A G missense_variant M80T 239T>C COAD-US 1 1192624 1192624 single base substitution A G missense_variant M96T 287T>C COAD-US 1 1192624 1192624 single base substitution A G upstream_gene_variant COCA-CN 1 1185524 1185524 single base substitution T C downstream_gene_variant COCA-CN 1 1188313 1188313 single base substitution G A downstream_gene_variant COCA-CN 1 1188320 1188320 single base substitution G T downstream_gene_variant COCA-CN 1 1188345 1188345 single base substitution A T downstream_gene_variant COCA-CN 1 1188351 1188351 single base substitution G A downstream_gene_variant COCA-CN 1 1188417 1188417 single base substitution T C downstream_gene_variant COCA-CN 1 1188463 1188463 single base substitution A T downstream_gene_variant COCA-CN 1 1190911 1190911 single base substitution G A downstream_gene_variant COCA-CN 1 1190911 1190911 single base substitution G A intron_variant COCA-CN 1 1193476 1193476 single base substitution G C downstream_gene_variant COCA-CN 1 1193476 1193476 single base substitution G C intron_variant COCA-CN 1 1193476 1193476 single base substitution G C upstream_gene_variant COCA-CN 1 1198333 1198333 single base substitution C T downstream_gene_variant COCA-CN 1 1198333 1198333 single base substitution C T exon_variant COCA-CN 1 1198333 1198333 single base substitution C T intron_variant COCA-CN 1 1203202 1203202 single base substitution C T 3_prime_UTR_variant COCA-CN 1 1203202 1203202 single base substitution C T 5_prime_UTR_variant COCA-CN 1 1203202 1203202 single base substitution C T downstream_gene_variant COCA-CN 1 1203202 1203202 single base substitution C T intron_variant COCA-CN 1 1203202 1203202 single base substitution C T upstream_gene_variant COCA-CN 1 1211598 1211598 single base substitution C T upstream_gene_variant COCA-CN 1 1212555 1212555 single base substitution C T upstream_gene_variant EOPC-DE 1 1192773 1192773 single base substitution A C intron_variant EOPC-DE 1 1192773 1192773 single base substitution A C upstream_gene_variant EOPC-DE 1 1194435 1194435 single base substitution G T downstream_gene_variant EOPC-DE 1 1194435 1194435 single base substitution G T intron_variant EOPC-DE 1 1194435 1194435 single base substitution G T upstream_gene_variant EOPC-DE 1 1194454 1194454 single base substitution C T downstream_gene_variant EOPC-DE 1 1194454 1194454 single base substitution C T intron_variant EOPC-DE 1 1194454 1194454 single base substitution C T upstream_gene_variant EOPC-DE 1 1197151 1197151 single base substitution T C downstream_gene_variant EOPC-DE 1 1197151 1197151 single base substitution T C intron_variant ESAD-UK 1 1185152 1185152 single base substitution A C downstream_gene_variant ESAD-UK 1 1187471 1187471 single base substitution C T downstream_gene_variant ESAD-UK 1 1188297 1188297 single base substitution C A downstream_gene_variant ESAD-UK 1 1188948 1188948 single base substitution C T downstream_gene_variant ESAD-UK 1 1189860 1189860 single base substitution G A 3_prime_UTR_variant ESAD-UK 1 1189860 1189860 single base substitution G A downstream_gene_variant ESAD-UK 1 1190136 1190136 single base substitution C A 3_prime_UTR_variant ESAD-UK 1 1190136 1190136 single base substitution C A downstream_gene_variant ESAD-UK 1 1190708 1190708 single base substitution G C 3_prime_UTR_variant ESAD-UK 1 1190708 1190708 single base substitution G C downstream_gene_variant ESAD-UK 1 1190708 1190708 single base substitution G C exon_variant ESAD-UK 1 1190708 1190708 single base substitution G C missense_variant L167V 499C>G ESAD-UK 1 1190708 1190708 single base substitution G C missense_variant L184V 550C>G ESAD-UK 1 1190708 1190708 single base substitution G C missense_variant L219V 655C>G ESAD-UK 1 1190708 1190708 single base substitution G C missense_variant L235V 703C>G ESAD-UK 1 1193257 1193257 single base substitution T C downstream_gene_variant ESAD-UK 1 1193257 1193257 single base substitution T C intron_variant ESAD-UK 1 1193257 1193257 single base substitution T C upstream_gene_variant ESAD-UK 1 1196613 1196613 single base substitution C T downstream_gene_variant ESAD-UK 1 1196613 1196613 single base substitution C T intron_variant ESAD-UK 1 1196613 1196613 single base substitution C T upstream_gene_variant ESAD-UK 1 1197236 1197236 single base substitution G C downstream_gene_variant ESAD-UK 1 1197236 1197236 single base substitution G C intron_variant ESAD-UK 1 1198564 1198564 single base substitution T C downstream_gene_variant ESAD-UK 1 1198564 1198564 single base substitution T C exon_variant ESAD-UK 1 1198564 1198564 single base substitution T C intron_variant ESAD-UK 1 1204438 1204438 single base substitution G A intron_variant ESAD-UK 1 1204438 1204438 single base substitution G A upstream_gene_variant ESAD-UK 1 1205581 1205581 single base substitution T G intron_variant ESAD-UK 1 1205581 1205581 single base substitution T G upstream_gene_variant ESAD-UK 1 1205584 1205584 single base substitution T A intron_variant ESAD-UK 1 1205584 1205584 single base substitution T A upstream_gene_variant ESAD-UK 1 1206661 1206661 single base substitution G T intron_variant ESAD-UK 1 1208241 1208241 single base substitution C T 5_prime_UTR_variant ESAD-UK 1 1208241 1208241 single base substitution C T intron_variant ESAD-UK 1 1209237 1209237 single base substitution C T 5_prime_UTR_variant ESAD-UK 1 1209237 1209237 single base substitution C T upstream_gene_variant ESAD-UK 1 1210772 1210772 single base substitution G A upstream_gene_variant ESAD-UK 1 1211076 1211076 single base substitution A C upstream_gene_variant ESAD-UK 1 1212521 1212521 single base substitution G A upstream_gene_variant ESAD-UK 1 1212986 1212986 single base substitution A G upstream_gene_variant ESAD-UK 1 1213173 1213173 single base substitution C T upstream_gene_variant ESAD-UK 1 1213686 1213686 single base substitution G A upstream_gene_variant KIRC-US 1 1198752 1198752 single base substitution C T 3_prime_UTR_variant KIRC-US 1 1198752 1198752 single base substitution C T 5_prime_UTR_variant KIRC-US 1 1198752 1198752 single base substitution C T downstream_gene_variant KIRC-US 1 1198752 1198752 single base substitution C T exon_variant KIRC-US 1 1198752 1198752 single base substitution C T intron_variant KIRC-US 1 1198752 1198752 single base substitution C T missense_variant R14Q 41G>A KIRC-US 1 1198752 1198752 single base substitution C T missense_variant R49Q 146G>A KIRC-US 1 1198752 1198752 single base substitution C T missense_variant R65Q 194G>A LAML-KR 1 1184351 1184351 single base substitution G C downstream_gene_variant LAML-KR 1 1197151 1197151 single base substitution T C downstream_gene_variant LAML-KR 1 1197151 1197151 single base substitution T C intron_variant LAML-KR 1 1200973 1200973 single base substitution T G downstream_gene_variant LAML-KR 1 1200973 1200973 single base substitution T G intron_variant LAML-KR 1 1200973 1200973 single base substitution T G upstream_gene_variant LAML-KR 1 1203447 1203447 single base substitution T C intron_variant LAML-KR 1 1203447 1203447 single base substitution T C upstream_gene_variant LAML-KR 1 1204610 1204610 single base substitution C T intron_variant LAML-KR 1 1204610 1204610 single base substitution C T upstream_gene_variant LICA-FR 1 1185524 1185524 single base substitution T C downstream_gene_variant LICA-FR 1 1190824 1190824 single base substitution C T 3_prime_UTR_variant LICA-FR 1 1190824 1190824 single base substitution C T downstream_gene_variant LICA-FR 1 1190824 1190824 single base substitution C T exon_variant LICA-FR 1 1190824 1190824 single base substitution C T missense_variant R128K 383G>A LICA-FR 1 1190824 1190824 single base substitution C T missense_variant R145K 434G>A LICA-FR 1 1190824 1190824 single base substitution C T missense_variant R180K 539G>A LICA-FR 1 1190824 1190824 single base substitution C T missense_variant R196K 587G>A LICA-FR 1 1190824 1190824 single base substitution C T missense_variant R59K 176G>A LIHC-US 1 1190842 1190842 single base substitution T A 3_prime_UTR_variant LIHC-US 1 1190842 1190842 single base substitution T A downstream_gene_variant LIHC-US 1 1190842 1190842 single base substitution T A exon_variant LIHC-US 1 1190842 1190842 single base substitution T A missense_variant Q122L 365A>T LIHC-US 1 1190842 1190842 single base substitution T A missense_variant Q139L 416A>T LIHC-US 1 1190842 1190842 single base substitution T A missense_variant Q174L 521A>T LIHC-US 1 1190842 1190842 single base substitution T A missense_variant Q190L 569A>T LIHC-US 1 1190842 1190842 single base substitution T A missense_variant Q53L 158A>T LINC-JP 1 1189097 1189097 single base substitution G A downstream_gene_variant LINC-JP 1 1190696 1190696 single base substitution T C 3_prime_UTR_variant LINC-JP 1 1190696 1190696 single base substitution T C downstream_gene_variant LINC-JP 1 1190696 1190696 single base substitution T C exon_variant LINC-JP 1 1190696 1190696 single base substitution T C missense_variant N171D 511A>G LINC-JP 1 1190696 1190696 single base substitution T C missense_variant N188D 562A>G LINC-JP 1 1190696 1190696 single base substitution T C missense_variant N223D 667A>G LINC-JP 1 1190696 1190696 single base substitution T C missense_variant N239D 715A>G LINC-JP 1 1196515 1196515 single base substitution C T downstream_gene_variant LINC-JP 1 1196515 1196515 single base substitution C T intron_variant LINC-JP 1 1196515 1196515 single base substitution C T upstream_gene_variant LINC-JP 1 1207998 1207998 single base substitution G T intron_variant LINC-JP 1 1213890 1213890 single base substitution G T upstream_gene_variant LIRI-JP 1 1185558 1185558 single base substitution T C downstream_gene_variant LIRI-JP 1 1197191 1197191 single base substitution T C downstream_gene_variant LIRI-JP 1 1197191 1197191 single base substitution T C intron_variant LIRI-JP 1 1199923 1199923 single base substitution G C downstream_gene_variant LIRI-JP 1 1199923 1199923 single base substitution G C intron_variant LIRI-JP 1 1199923 1199923 single base substitution G C upstream_gene_variant LIRI-JP 1 1201867 1201867 single base substitution T C downstream_gene_variant LIRI-JP 1 1201867 1201867 single base substitution T C intron_variant LIRI-JP 1 1201867 1201867 single base substitution T C upstream_gene_variant LUSC-KR 1 1184351 1184351 single base substitution G C downstream_gene_variant LUSC-KR 1 1190058 1190058 single base substitution C A 3_prime_UTR_variant LUSC-KR 1 1190058 1190058 single base substitution C A downstream_gene_variant LUSC-KR 1 1192736 1192736 single base substitution G C intron_variant LUSC-KR 1 1192736 1192736 single base substitution G C upstream_gene_variant LUSC-KR 1 1193105 1193105 single base substitution T A intron_variant LUSC-KR 1 1193105 1193105 single base substitution T A upstream_gene_variant LUSC-KR 1 1193713 1193713 single base substitution C G downstream_gene_variant LUSC-KR 1 1193713 1193713 single base substitution C G intron_variant LUSC-KR 1 1193713 1193713 single base substitution C G upstream_gene_variant LUSC-KR 1 1193723 1193723 single base substitution A C downstream_gene_variant LUSC-KR 1 1193723 1193723 single base substitution A C intron_variant LUSC-KR 1 1193723 1193723 single base substitution A C upstream_gene_variant LUSC-KR 1 1193763 1193763 single base substitution G A downstream_gene_variant LUSC-KR 1 1193763 1193763 single base substitution G A intron_variant LUSC-KR 1 1193763 1193763 single base substitution G A upstream_gene_variant LUSC-KR 1 1195690 1195690 single base substitution G C downstream_gene_variant LUSC-KR 1 1195690 1195690 single base substitution G C intron_variant LUSC-KR 1 1195690 1195690 single base substitution G C upstream_gene_variant LUSC-KR 1 1196374 1196374 single base substitution C T downstream_gene_variant LUSC-KR 1 1196374 1196374 single base substitution C T intron_variant LUSC-KR 1 1196374 1196374 single base substitution C T upstream_gene_variant LUSC-KR 1 1196678 1196678 single base substitution C T downstream_gene_variant LUSC-KR 1 1196678 1196678 single base substitution C T intron_variant LUSC-KR 1 1196678 1196678 single base substitution C T upstream_gene_variant MALY-DE 1 1186714 1186714 single base substitution C T downstream_gene_variant MALY-DE 1 1200945 1200946 deletion of <=200bp GT - downstream_gene_variant MALY-DE 1 1200945 1200946 deletion of <=200bp GT - intron_variant MALY-DE 1 1200945 1200946 deletion of <=200bp GT - upstream_gene_variant MALY-DE 1 1201140 1201140 single base substitution A C downstream_gene_variant MALY-DE 1 1201140 1201140 single base substitution A C intron_variant MALY-DE 1 1201140 1201140 single base substitution A C upstream_gene_variant MALY-DE 1 1202232 1202232 single base substitution T A downstream_gene_variant MALY-DE 1 1202232 1202232 single base substitution T A intron_variant MALY-DE 1 1202232 1202232 single base substitution T A upstream_gene_variant MALY-DE 1 1205800 1205800 single base substitution C T intron_variant MALY-DE 1 1205800 1205800 single base substitution C T upstream_gene_variant MALY-DE 1 1213439 1213439 single base substitution A C upstream_gene_variant MELA-AU 1 1185017 1185017 single base substitution G A downstream_gene_variant MELA-AU 1 1186480 1186480 single base substitution G A downstream_gene_variant MELA-AU 1 1186549 1186549 single base substitution G A downstream_gene_variant MELA-AU 1 1186623 1186623 single base substitution G A downstream_gene_variant MELA-AU 1 1186953 1186953 single base substitution G A downstream_gene_variant MELA-AU 1 1187148 1187148 single base substitution C T downstream_gene_variant MELA-AU 1 1187230 1187230 single base substitution A G downstream_gene_variant MELA-AU 1 1188042 1188042 single base substitution G A downstream_gene_variant MELA-AU 1 1188042 1188043 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 1188177 1188177 single base substitution G A downstream_gene_variant MELA-AU 1 1188301 1188301 single base substitution G A downstream_gene_variant MELA-AU 1 1188314 1188314 single base substitution G A downstream_gene_variant MELA-AU 1 1188662 1188662 single base substitution A T downstream_gene_variant MELA-AU 1 1189703 1189703 single base substitution G A 3_prime_UTR_variant MELA-AU 1 1189703 1189703 single base substitution G A downstream_gene_variant MELA-AU 1 1189888 1189888 single base substitution G A 3_prime_UTR_variant MELA-AU 1 1189888 1189888 single base substitution G A downstream_gene_variant MELA-AU 1 1190479 1190479 single base substitution G A 3_prime_UTR_variant MELA-AU 1 1190479 1190479 single base substitution G A downstream_gene_variant MELA-AU 1 1190572 1190572 single base substitution G A 3_prime_UTR_variant MELA-AU 1 1190572 1190572 single base substitution G A downstream_gene_variant MELA-AU 1 1190661 1190661 single base substitution C T 3_prime_UTR_variant MELA-AU 1 1190661 1190661 single base substitution C T downstream_gene_variant MELA-AU 1 1190661 1190661 single base substitution C T exon_variant MELA-AU 1 1190661 1190661 single base substitution C T synonymous_variant A182A 546G>A MELA-AU 1 1190661 1190661 single base substitution C T synonymous_variant A199A 597G>A MELA-AU 1 1190661 1190661 single base substitution C T synonymous_variant A234A 702G>A MELA-AU 1 1190661 1190661 single base substitution C T synonymous_variant A250A 750G>A MELA-AU 1 1191161 1191161 single base substitution G A downstream_gene_variant MELA-AU 1 1191161 1191161 single base substitution G A intron_variant MELA-AU 1 1191191 1191191 single base substitution G A downstream_gene_variant MELA-AU 1 1191191 1191191 single base substitution G A intron_variant MELA-AU 1 1191303 1191303 single base substitution G A downstream_gene_variant MELA-AU 1 1191303 1191303 single base substitution G A intron_variant MELA-AU 1 1191694 1191694 single base substitution G A downstream_gene_variant MELA-AU 1 1191694 1191694 single base substitution G A exon_variant MELA-AU 1 1191694 1191694 single base substitution G A intron_variant MELA-AU 1 1191884 1191884 single base substitution G A downstream_gene_variant MELA-AU 1 1191884 1191884 single base substitution G A intron_variant MELA-AU 1 1191884 1191884 single base substitution G A upstream_gene_variant MELA-AU 1 1191929 1191929 single base substitution G A downstream_gene_variant MELA-AU 1 1191929 1191929 single base substitution G A intron_variant MELA-AU 1 1191929 1191929 single base substitution G A upstream_gene_variant MELA-AU 1 1191986 1191986 single base substitution G A downstream_gene_variant MELA-AU 1 1191986 1191986 single base substitution G A intron_variant MELA-AU 1 1191986 1191986 single base substitution G A upstream_gene_variant MELA-AU 1 1192045 1192045 single base substitution G A downstream_gene_variant MELA-AU 1 1192045 1192045 single base substitution G A intron_variant MELA-AU 1 1192045 1192045 single base substitution G A upstream_gene_variant MELA-AU 1 1192394 1192394 single base substitution C G 3_prime_UTR_variant MELA-AU 1 1192394 1192394 single base substitution C G downstream_gene_variant MELA-AU 1 1192394 1192394 single base substitution C G exon_variant MELA-AU 1 1192394 1192394 single base substitution C G missense_variant S10T 29G>C MELA-AU 1 1192394 1192394 single base substitution C G missense_variant S131T 392G>C MELA-AU 1 1192394 1192394 single base substitution C G missense_variant S147T 440G>C MELA-AU 1 1192394 1192394 single base substitution C G missense_variant S79T 236G>C MELA-AU 1 1192394 1192394 single base substitution C G missense_variant S96T 287G>C MELA-AU 1 1192394 1192394 single base substitution C G upstream_gene_variant MELA-AU 1 1193205 1193205 single base substitution C T intron_variant MELA-AU 1 1193205 1193205 single base substitution C T upstream_gene_variant MELA-AU 1 1193638 1193638 single base substitution G A downstream_gene_variant MELA-AU 1 1193638 1193638 single base substitution G A intron_variant MELA-AU 1 1193638 1193638 single base substitution G A upstream_gene_variant MELA-AU 1 1194300 1194300 single base substitution G A downstream_gene_variant MELA-AU 1 1194300 1194300 single base substitution G A intron_variant MELA-AU 1 1194300 1194300 single base substitution G A upstream_gene_variant MELA-AU 1 1194472 1194473 multiple base substitution (>=2bp and <=200bp) GT AA downstream_gene_variant MELA-AU 1 1194472 1194473 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 1 1194472 1194473 multiple base substitution (>=2bp and <=200bp) GT AA upstream_gene_variant MELA-AU 1 1194739 1194739 single base substitution C T downstream_gene_variant MELA-AU 1 1194739 1194739 single base substitution C T intron_variant MELA-AU 1 1194739 1194739 single base substitution C T upstream_gene_variant MELA-AU 1 1195224 1195224 single base substitution G A downstream_gene_variant MELA-AU 1 1195224 1195224 single base substitution G A intron_variant MELA-AU 1 1195224 1195224 single base substitution G A upstream_gene_variant MELA-AU 1 1195411 1195411 single base substitution T C downstream_gene_variant MELA-AU 1 1195411 1195411 single base substitution T C intron_variant MELA-AU 1 1195411 1195411 single base substitution T C upstream_gene_variant MELA-AU 1 1195434 1195434 single base substitution G A downstream_gene_variant MELA-AU 1 1195434 1195434 single base substitution G A intron_variant MELA-AU 1 1195434 1195434 single base substitution G A upstream_gene_variant MELA-AU 1 1195585 1195585 single base substitution G A downstream_gene_variant MELA-AU 1 1195585 1195585 single base substitution G A intron_variant MELA-AU 1 1195585 1195585 single base substitution G A upstream_gene_variant MELA-AU 1 1195648 1195648 single base substitution G A downstream_gene_variant MELA-AU 1 1195648 1195648 single base substitution G A intron_variant MELA-AU 1 1195648 1195648 single base substitution G A upstream_gene_variant MELA-AU 1 1195716 1195716 single base substitution G A downstream_gene_variant MELA-AU 1 1195716 1195716 single base substitution G A intron_variant MELA-AU 1 1195716 1195716 single base substitution G A upstream_gene_variant MELA-AU 1 1195841 1195841 single base substitution G A downstream_gene_variant MELA-AU 1 1195841 1195841 single base substitution G A intron_variant MELA-AU 1 1195841 1195841 single base substitution G A upstream_gene_variant MELA-AU 1 1196742 1196742 single base substitution G A downstream_gene_variant MELA-AU 1 1196742 1196742 single base substitution G A intron_variant MELA-AU 1 1196756 1196756 single base substitution G A downstream_gene_variant MELA-AU 1 1196756 1196756 single base substitution G A intron_variant MELA-AU 1 1196757 1196757 single base substitution G A downstream_gene_variant MELA-AU 1 1196757 1196757 single base substitution G A intron_variant MELA-AU 1 1197006 1197006 single base substitution T C downstream_gene_variant MELA-AU 1 1197006 1197006 single base substitution T C intron_variant MELA-AU 1 1197090 1197090 single base substitution G A downstream_gene_variant MELA-AU 1 1197090 1197090 single base substitution G A intron_variant MELA-AU 1 1197162 1197162 single base substitution G A downstream_gene_variant MELA-AU 1 1197162 1197162 single base substitution G A intron_variant MELA-AU 1 1197331 1197332 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 1197331 1197332 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 1197703 1197703 single base substitution G A 3_prime_UTR_variant MELA-AU 1 1197703 1197703 single base substitution G A downstream_gene_variant MELA-AU 1 1197703 1197703 single base substitution G A exon_variant MELA-AU 1 1197703 1197703 single base substitution G A intron_variant MELA-AU 1 1198048 1198048 single base substitution G A downstream_gene_variant MELA-AU 1 1198048 1198048 single base substitution G A intron_variant MELA-AU 1 1198086 1198086 single base substitution C G downstream_gene_variant MELA-AU 1 1198086 1198086 single base substitution C G intron_variant MELA-AU 1 1198343 1198343 single base substitution G A downstream_gene_variant MELA-AU 1 1198343 1198343 single base substitution G A exon_variant MELA-AU 1 1198343 1198343 single base substitution G A intron_variant MELA-AU 1 1198388 1198389 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 1 1198388 1198389 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 1 1198388 1198389 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 1198413 1198413 single base substitution G A downstream_gene_variant MELA-AU 1 1198413 1198413 single base substitution G A exon_variant MELA-AU 1 1198413 1198413 single base substitution G A intron_variant MELA-AU 1 1198971 1198971 single base substitution G A downstream_gene_variant MELA-AU 1 1198971 1198971 single base substitution G A intron_variant MELA-AU 1 1198971 1198971 single base substitution G A upstream_gene_variant MELA-AU 1 1199301 1199301 single base substitution G A downstream_gene_variant MELA-AU 1 1199301 1199301 single base substitution G A intron_variant MELA-AU 1 1199301 1199301 single base substitution G A upstream_gene_variant MELA-AU 1 1199719 1199719 single base substitution G A downstream_gene_variant MELA-AU 1 1199719 1199719 single base substitution G A intron_variant MELA-AU 1 1199719 1199719 single base substitution G A upstream_gene_variant MELA-AU 1 1199730 1199730 single base substitution G C downstream_gene_variant MELA-AU 1 1199730 1199730 single base substitution G C intron_variant MELA-AU 1 1199730 1199730 single base substitution G C upstream_gene_variant MELA-AU 1 1200648 1200648 single base substitution G A downstream_gene_variant MELA-AU 1 1200648 1200648 single base substitution G A intron_variant MELA-AU 1 1200648 1200648 single base substitution G A upstream_gene_variant MELA-AU 1 1201071 1201071 single base substitution G A downstream_gene_variant MELA-AU 1 1201071 1201071 single base substitution G A intron_variant MELA-AU 1 1201071 1201071 single base substitution G A upstream_gene_variant MELA-AU 1 1201506 1201506 single base substitution G A 3_prime_UTR_variant MELA-AU 1 1201506 1201506 single base substitution G A downstream_gene_variant MELA-AU 1 1201506 1201506 single base substitution G A intron_variant MELA-AU 1 1201506 1201506 single base substitution G A upstream_gene_variant MELA-AU 1 1201632 1201632 single base substitution G A 3_prime_UTR_variant MELA-AU 1 1201632 1201632 single base substitution G A downstream_gene_variant MELA-AU 1 1201632 1201632 single base substitution G A intron_variant MELA-AU 1 1201632 1201632 single base substitution G A upstream_gene_variant MELA-AU 1 1201813 1201813 single base substitution G A downstream_gene_variant MELA-AU 1 1201813 1201813 single base substitution G A intron_variant MELA-AU 1 1201813 1201813 single base substitution G A upstream_gene_variant MELA-AU 1 1201984 1201984 single base substitution G A downstream_gene_variant MELA-AU 1 1201984 1201984 single base substitution G A intron_variant MELA-AU 1 1201984 1201984 single base substitution G A upstream_gene_variant MELA-AU 1 1202182 1202183 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 1202182 1202183 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 1202182 1202183 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 1 1202989 1202989 single base substitution G A downstream_gene_variant MELA-AU 1 1202989 1202989 single base substitution G A intron_variant MELA-AU 1 1202989 1202989 single base substitution G A upstream_gene_variant MELA-AU 1 1203941 1203941 single base substitution G A intron_variant MELA-AU 1 1203941 1203941 single base substitution G A upstream_gene_variant MELA-AU 1 1204325 1204325 single base substitution G A intron_variant MELA-AU 1 1204325 1204325 single base substitution G A upstream_gene_variant MELA-AU 1 1204371 1204371 single base substitution G A intron_variant MELA-AU 1 1204371 1204371 single base substitution G A upstream_gene_variant MELA-AU 1 1204470 1204470 single base substitution C T intron_variant MELA-AU 1 1204470 1204470 single base substitution C T upstream_gene_variant MELA-AU 1 1206012 1206012 insertion of <=200bp - C intron_variant MELA-AU 1 1206012 1206012 insertion of <=200bp - C upstream_gene_variant MELA-AU 1 1206607 1206607 single base substitution G A intron_variant MELA-AU 1 1206609 1206609 single base substitution C G intron_variant MELA-AU 1 1207051 1207051 single base substitution G A intron_variant MELA-AU 1 1207963 1207963 single base substitution G A intron_variant MELA-AU 1 1208982 1208982 single base substitution G A 5_prime_UTR_variant MELA-AU 1 1208982 1208982 single base substitution G A exon_variant MELA-AU 1 1208982 1208982 single base substitution G A intron_variant MELA-AU 1 1208982 1208982 single base substitution G A upstream_gene_variant MELA-AU 1 1209275 1209275 single base substitution G A upstream_gene_variant MELA-AU 1 1209278 1209278 single base substitution G A upstream_gene_variant MELA-AU 1 1209288 1209288 single base substitution G A upstream_gene_variant MELA-AU 1 1210014 1210014 single base substitution C T upstream_gene_variant MELA-AU 1 1210654 1210654 single base substitution C T upstream_gene_variant MELA-AU 1 1210904 1210904 single base substitution C T upstream_gene_variant MELA-AU 1 1211110 1211110 single base substitution C T upstream_gene_variant MELA-AU 1 1211441 1211441 single base substitution A T upstream_gene_variant MELA-AU 1 1211604 1211604 single base substitution G A upstream_gene_variant MELA-AU 1 1212541 1212541 single base substitution C T upstream_gene_variant MELA-AU 1 1212730 1212730 single base substitution G A upstream_gene_variant MELA-AU 1 1212753 1212753 single base substitution C T upstream_gene_variant MELA-AU 1 1213987 1213987 single base substitution C T upstream_gene_variant ORCA-IN 1 1186462 1186462 single base substitution G C downstream_gene_variant OV-AU 1 1193254 1193254 single base substitution C T downstream_gene_variant OV-AU 1 1193254 1193254 single base substitution C T intron_variant OV-AU 1 1193254 1193254 single base substitution C T upstream_gene_variant OV-AU 1 1193839 1193839 single base substitution C T downstream_gene_variant OV-AU 1 1193839 1193839 single base substitution C T intron_variant OV-AU 1 1193839 1193839 single base substitution C T upstream_gene_variant OV-AU 1 1194352 1194352 single base substitution C A downstream_gene_variant OV-AU 1 1194352 1194352 single base substitution C A intron_variant OV-AU 1 1194352 1194352 single base substitution C A upstream_gene_variant OV-AU 1 1195088 1195088 single base substitution C A downstream_gene_variant OV-AU 1 1195088 1195088 single base substitution C A intron_variant OV-AU 1 1195088 1195088 single base substitution C A upstream_gene_variant OV-AU 1 1196249 1196249 single base substitution T A downstream_gene_variant OV-AU 1 1196249 1196249 single base substitution T A intron_variant OV-AU 1 1196249 1196249 single base substitution T A upstream_gene_variant OV-AU 1 1206990 1206990 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant OV-AU 1 1206990 1206990 single base substitution G A intron_variant OV-AU 1 1210663 1210663 single base substitution G T upstream_gene_variant OV-AU 1 1211996 1211996 single base substitution C T upstream_gene_variant PACA-AU 1 1186515 1186515 single base substitution G A downstream_gene_variant PACA-AU 1 1189214 1189214 single base substitution C T downstream_gene_variant PACA-AU 1 1202737 1202737 single base substitution T C downstream_gene_variant PACA-AU 1 1202737 1202737 single base substitution T C intron_variant PACA-AU 1 1202737 1202737 single base substitution T C upstream_gene_variant PACA-AU 1 1205188 1205188 single base substitution G T intron_variant PACA-AU 1 1205188 1205188 single base substitution G T upstream_gene_variant PACA-AU 1 1213704 1213704 single base substitution G A upstream_gene_variant PACA-CA 1 1187033 1187033 single base substitution C G downstream_gene_variant PACA-CA 1 1187967 1187967 single base substitution G C downstream_gene_variant PACA-CA 1 1189625 1189625 single base substitution C T 3_prime_UTR_variant PACA-CA 1 1189625 1189625 single base substitution C T downstream_gene_variant PACA-CA 1 1194542 1194542 single base substitution C T downstream_gene_variant PACA-CA 1 1194542 1194542 single base substitution C T intron_variant PACA-CA 1 1194542 1194542 single base substitution C T upstream_gene_variant PACA-CA 1 1198333 1198333 single base substitution C T downstream_gene_variant PACA-CA 1 1198333 1198333 single base substitution C T exon_variant PACA-CA 1 1198333 1198333 single base substitution C T intron_variant PACA-CA 1 1199573 1199573 single base substitution C T downstream_gene_variant PACA-CA 1 1199573 1199573 single base substitution C T intron_variant PACA-CA 1 1199573 1199573 single base substitution C T upstream_gene_variant PACA-CA 1 1200206 1200206 single base substitution T C downstream_gene_variant PACA-CA 1 1200206 1200206 single base substitution T C intron_variant PACA-CA 1 1200206 1200206 single base substitution T C missense_variant K46E 136A>G PACA-CA 1 1200206 1200206 single base substitution T C upstream_gene_variant PACA-CA 1 1203199 1203199 single base substitution C T 3_prime_UTR_variant PACA-CA 1 1203199 1203199 single base substitution C T 5_prime_UTR_variant PACA-CA 1 1203199 1203199 single base substitution C T downstream_gene_variant PACA-CA 1 1203199 1203199 single base substitution C T intron_variant PACA-CA 1 1203199 1203199 single base substitution C T upstream_gene_variant PACA-CA 1 1206065 1206065 single base substitution C T intron_variant PACA-CA 1 1206065 1206065 single base substitution C T upstream_gene_variant PACA-CA 1 1211944 1211944 single base substitution C T upstream_gene_variant PACA-CA 1 1213328 1213328 single base substitution C T upstream_gene_variant PAEN-AU 1 1209044 1209044 single base substitution A C 5_prime_UTR_variant PAEN-AU 1 1209044 1209044 single base substitution A C exon_variant PAEN-AU 1 1209044 1209044 single base substitution A C splice_donor_variant PAEN-AU 1 1209044 1209044 single base substitution A C upstream_gene_variant PBCA-DE 1 1187432 1187432 single base substitution G A downstream_gene_variant PBCA-DE 1 1189431 1189431 single base substitution C A 3_prime_UTR_variant PBCA-DE 1 1189431 1189431 single base substitution C A downstream_gene_variant PBCA-DE 1 1192767 1192767 single base substitution C G intron_variant PBCA-DE 1 1192767 1192767 single base substitution C G upstream_gene_variant PBCA-DE 1 1208043 1208043 single base substitution C T intron_variant PBCA-DE 1 1211865 1211865 deletion of <=200bp T - upstream_gene_variant PBCA-DE 1 1211945 1211945 single base substitution G A upstream_gene_variant PRAD-CA 1 1203230 1203230 single base substitution G A 3_prime_UTR_variant PRAD-CA 1 1203230 1203230 single base substitution G A 5_prime_UTR_variant PRAD-CA 1 1203230 1203230 single base substitution G A downstream_gene_variant PRAD-CA 1 1203230 1203230 single base substitution G A intron_variant PRAD-CA 1 1203230 1203230 single base substitution G A upstream_gene_variant PRAD-CA 1 1209215 1209215 single base substitution G A 5_prime_UTR_variant PRAD-CA 1 1209215 1209215 single base substitution G A exon_variant PRAD-CA 1 1209215 1209215 single base substitution G A upstream_gene_variant PRAD-UK 1 1190832 1190832 single base substitution G T 3_prime_UTR_variant PRAD-UK 1 1190832 1190832 single base substitution G T downstream_gene_variant PRAD-UK 1 1190832 1190832 single base substitution G T exon_variant PRAD-UK 1 1190832 1190832 single base substitution G T synonymous_variant L125L 375C>A PRAD-UK 1 1190832 1190832 single base substitution G T synonymous_variant L142L 426C>A PRAD-UK 1 1190832 1190832 single base substitution G T synonymous_variant L177L 531C>A PRAD-UK 1 1190832 1190832 single base substitution G T synonymous_variant L193L 579C>A PRAD-UK 1 1190832 1190832 single base substitution G T synonymous_variant L56L 168C>A PRAD-UK 1 1202682 1202682 single base substitution G T downstream_gene_variant PRAD-UK 1 1202682 1202682 single base substitution G T intron_variant PRAD-UK 1 1202682 1202682 single base substitution G T upstream_gene_variant PRAD-UK 1 1208019 1208019 single base substitution C G intron_variant PRAD-UK 1 1211262 1211262 single base substitution G T upstream_gene_variant READ-US 1 1190833 1190833 single base substitution A G 3_prime_UTR_variant READ-US 1 1190833 1190833 single base substitution A G downstream_gene_variant READ-US 1 1190833 1190833 single base substitution A G exon_variant READ-US 1 1190833 1190833 single base substitution A G missense_variant L125P 374T>C READ-US 1 1190833 1190833 single base substitution A G missense_variant L142P 425T>C READ-US 1 1190833 1190833 single base substitution A G missense_variant L177P 530T>C READ-US 1 1190833 1190833 single base substitution A G missense_variant L193P 578T>C READ-US 1 1190833 1190833 single base substitution A G missense_variant L56P 167T>C RECA-EU 1 1206804 1206804 single base substitution G A intron_variant SKCA-BR 1 1185260 1185260 single base substitution A G downstream_gene_variant SKCA-BR 1 1185478 1185478 single base substitution G A downstream_gene_variant SKCA-BR 1 1186151 1186151 single base substitution C T downstream_gene_variant SKCA-BR 1 1188706 1188706 single base substitution G A downstream_gene_variant SKCA-BR 1 1189607 1189607 single base substitution C T 3_prime_UTR_variant SKCA-BR 1 1189607 1189607 single base substitution C T downstream_gene_variant SKCA-BR 1 1192364 1192364 single base substitution A G downstream_gene_variant SKCA-BR 1 1192364 1192364 single base substitution A G splice_region_variant SKCA-BR 1 1192364 1192364 single base substitution A G upstream_gene_variant SKCA-BR 1 1192786 1192786 insertion of <=200bp - CTA intron_variant SKCA-BR 1 1192786 1192786 insertion of <=200bp - CTA upstream_gene_variant SKCA-BR 1 1195319 1195319 single base substitution C A downstream_gene_variant SKCA-BR 1 1195319 1195319 single base substitution C A intron_variant SKCA-BR 1 1195319 1195319 single base substitution C A upstream_gene_variant SKCA-BR 1 1198110 1198110 single base substitution C T downstream_gene_variant SKCA-BR 1 1198110 1198110 single base substitution C T intron_variant SKCA-BR 1 1198119 1198119 single base substitution G A downstream_gene_variant SKCA-BR 1 1198119 1198119 single base substitution G A intron_variant SKCA-BR 1 1198393 1198393 single base substitution C T downstream_gene_variant SKCA-BR 1 1198393 1198393 single base substitution C T exon_variant SKCA-BR 1 1198393 1198393 single base substitution C T intron_variant SKCA-BR 1 1200221 1200221 single base substitution G A downstream_gene_variant SKCA-BR 1 1200221 1200221 single base substitution G A intron_variant SKCA-BR 1 1200221 1200221 single base substitution G A upstream_gene_variant SKCA-BR 1 1201446 1201446 single base substitution G A downstream_gene_variant SKCA-BR 1 1201446 1201446 single base substitution G A intron_variant SKCA-BR 1 1201446 1201446 single base substitution G A upstream_gene_variant SKCA-BR 1 1202526 1202526 single base substitution C T downstream_gene_variant SKCA-BR 1 1202526 1202526 single base substitution C T intron_variant SKCA-BR 1 1202526 1202526 single base substitution C T upstream_gene_variant SKCA-BR 1 1205374 1205374 single base substitution G A intron_variant SKCA-BR 1 1205374 1205374 single base substitution G A upstream_gene_variant SKCA-BR 1 1206937 1206937 single base substitution T C 5_prime_UTR_variant SKCA-BR 1 1206937 1206937 single base substitution T C intron_variant SKCA-BR 1 1209280 1209280 single base substitution G A upstream_gene_variant SKCA-BR 1 1209354 1209354 single base substitution T G upstream_gene_variant SKCA-BR 1 1210775 1210775 single base substitution G A upstream_gene_variant SKCA-BR 1 1211519 1211519 single base substitution A C upstream_gene_variant SKCA-BR 1 1212583 1212583 single base substitution C T upstream_gene_variant SKCM-US 1 1190811 1190811 single base substitution G A 3_prime_UTR_variant SKCM-US 1 1190811 1190811 single base substitution G A downstream_gene_variant SKCM-US 1 1190811 1190811 single base substitution G A exon_variant SKCM-US 1 1190811 1190811 single base substitution G A synonymous_variant L132L 396C>T SKCM-US 1 1190811 1190811 single base substitution G A synonymous_variant L149L 447C>T SKCM-US 1 1190811 1190811 single base substitution G A synonymous_variant L184L 552C>T SKCM-US 1 1190811 1190811 single base substitution G A synonymous_variant L200L 600C>T SKCM-US 1 1192648 1192648 single base substitution G A 3_prime_UTR_variant SKCM-US 1 1192648 1192648 single base substitution G A downstream_gene_variant SKCM-US 1 1192648 1192648 single base substitution G A exon_variant SKCM-US 1 1192648 1192648 single base substitution G A intron_variant SKCM-US 1 1192648 1192648 single base substitution G A missense_variant P20L 59C>T SKCM-US 1 1192648 1192648 single base substitution G A missense_variant P37L 110C>T SKCM-US 1 1192648 1192648 single base substitution G A missense_variant P72L 215C>T SKCM-US 1 1192648 1192648 single base substitution G A missense_variant P88L 263C>T SKCM-US 1 1192648 1192648 single base substitution G A upstream_gene_variant SKCM-US 1 1192649 1192649 single base substitution G A 3_prime_UTR_variant SKCM-US 1 1192649 1192649 single base substitution G A downstream_gene_variant SKCM-US 1 1192649 1192649 single base substitution G A exon_variant SKCM-US 1 1192649 1192649 single base substitution G A intron_variant SKCM-US 1 1192649 1192649 single base substitution G A missense_variant P20S 58C>T SKCM-US 1 1192649 1192649 single base substitution G A missense_variant P37S 109C>T SKCM-US 1 1192649 1192649 single base substitution G A missense_variant P72S 214C>T SKCM-US 1 1192649 1192649 single base substitution G A missense_variant P88S 262C>T SKCM-US 1 1192649 1192649 single base substitution G A upstream_gene_variant SKCM-US 1 1203256 1203256 single base substitution C T 5_prime_UTR_variant SKCM-US 1 1203256 1203256 single base substitution C T exon_variant SKCM-US 1 1203256 1203256 single base substitution C T intron_variant SKCM-US 1 1203256 1203256 single base substitution C T synonymous_variant S39S 117G>A SKCM-US 1 1203256 1203256 single base substitution C T upstream_gene_variant SKCM-US 1 1203257 1203257 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant SKCM-US 1 1203257 1203257 single base substitution G A exon_variant SKCM-US 1 1203257 1203257 single base substitution G A intron_variant SKCM-US 1 1203257 1203257 single base substitution G A missense_variant S39L 116C>T SKCM-US 1 1203257 1203257 single base substitution G A upstream_gene_variant SKCM-US 1 1203260 1203260 single base substitution G A 5_prime_UTR_variant SKCM-US 1 1203260 1203260 single base substitution G A exon_variant SKCM-US 1 1203260 1203260 single base substitution G A intron_variant SKCM-US 1 1203260 1203260 single base substitution G A missense_variant P38L 113C>T SKCM-US 1 1203260 1203260 single base substitution G A upstream_gene_variant SKCM-US 1 1203309 1203309 single base substitution G A 5_prime_UTR_variant SKCM-US 1 1203309 1203309 single base substitution G A exon_variant SKCM-US 1 1203309 1203309 single base substitution G A intron_variant SKCM-US 1 1203309 1203309 single base substitution G A missense_variant L22F 64C>T SKCM-US 1 1203309 1203309 single base substitution G A upstream_gene_variant STAD-US 1 1190610 1190610 single base substitution G A 3_prime_UTR_variant STAD-US 1 1190610 1190610 single base substitution G A downstream_gene_variant STAD-US 1 1190610 1190610 single base substitution G A synonymous_variant Y199Y 597C>T STAD-US 1 1190610 1190610 single base substitution G A synonymous_variant Y216Y 648C>T STAD-US 1 1190610 1190610 single base substitution G A synonymous_variant Y251Y 753C>T STAD-US 1 1190610 1190610 single base substitution G A synonymous_variant Y267Y 801C>T STAD-US 1 1190726 1190726 single base substitution C T 3_prime_UTR_variant STAD-US 1 1190726 1190726 single base substitution C T downstream_gene_variant STAD-US 1 1190726 1190726 single base substitution C T exon_variant STAD-US 1 1190726 1190726 single base substitution C T missense_variant V161I 481G>A STAD-US 1 1190726 1190726 single base substitution C T missense_variant V178I 532G>A STAD-US 1 1190726 1190726 single base substitution C T missense_variant V213I 637G>A STAD-US 1 1190726 1190726 single base substitution C T missense_variant V229I 685G>A STAD-US 1 1190730 1190730 single base substitution C A 3_prime_UTR_variant STAD-US 1 1190730 1190730 single base substitution C A downstream_gene_variant STAD-US 1 1190730 1190730 single base substitution C A exon_variant STAD-US 1 1190730 1190730 single base substitution C A synonymous_variant G159G 477G>T STAD-US 1 1190730 1190730 single base substitution C A synonymous_variant G176G 528G>T STAD-US 1 1190730 1190730 single base substitution C A synonymous_variant G211G 633G>T STAD-US 1 1190730 1190730 single base substitution C A synonymous_variant G227G 681G>T STAD-US 1 1190787 1190787 single base substitution G A 3_prime_UTR_variant STAD-US 1 1190787 1190787 single base substitution G A downstream_gene_variant STAD-US 1 1190787 1190787 single base substitution G A exon_variant STAD-US 1 1190787 1190787 single base substitution G A synonymous_variant D140D 420C>T STAD-US 1 1190787 1190787 single base substitution G A synonymous_variant D157D 471C>T STAD-US 1 1190787 1190787 single base substitution G A synonymous_variant D192D 576C>T STAD-US 1 1190787 1190787 single base substitution G A synonymous_variant D208D 624C>T STAD-US 1 1192407 1192407 single base substitution G T 3_prime_UTR_variant STAD-US 1 1192407 1192407 single base substitution G T downstream_gene_variant STAD-US 1 1192407 1192407 single base substitution G T exon_variant STAD-US 1 1192407 1192407 single base substitution G T missense_variant P127T 379C>A STAD-US 1 1192407 1192407 single base substitution G T missense_variant P143T 427C>A STAD-US 1 1192407 1192407 single base substitution G T missense_variant P6T 16C>A STAD-US 1 1192407 1192407 single base substitution G T missense_variant P75T 223C>A STAD-US 1 1192407 1192407 single base substitution G T missense_variant P92T 274C>A STAD-US 1 1192407 1192407 single base substitution G T upstream_gene_variant STAD-US 1 1192466 1192466 single base substitution G A 3_prime_UTR_variant STAD-US 1 1192466 1192466 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant STAD-US 1 1192466 1192466 single base substitution G A downstream_gene_variant STAD-US 1 1192466 1192466 single base substitution G A exon_variant STAD-US 1 1192466 1192466 single base substitution G A missense_variant P107L 320C>T STAD-US 1 1192466 1192466 single base substitution G A missense_variant P123L 368C>T STAD-US 1 1192466 1192466 single base substitution G A missense_variant P55L 164C>T STAD-US 1 1192466 1192466 single base substitution G A missense_variant P72L 215C>T STAD-US 1 1192466 1192466 single base substitution G A upstream_gene_variant STAD-US 1 1192586 1192586 single base substitution A G downstream_gene_variant STAD-US 1 1192586 1192586 single base substitution A G intron_variant STAD-US 1 1192586 1192586 single base substitution A G splice_donor_variant STAD-US 1 1192586 1192586 single base substitution A G upstream_gene_variant STAD-US 1 1203285 1203285 single base substitution G A 5_prime_UTR_variant STAD-US 1 1203285 1203285 single base substitution G A exon_variant STAD-US 1 1203285 1203285 single base substitution G A intron_variant STAD-US 1 1203285 1203285 single base substitution G A missense_variant P30S 88C>T STAD-US 1 1203285 1203285 single base substitution G A upstream_gene_variant STAD-US 1 1203290 1203290 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant STAD-US 1 1203290 1203290 single base substitution G A exon_variant STAD-US 1 1203290 1203290 single base substitution G A intron_variant STAD-US 1 1203290 1203290 single base substitution G A missense_variant P28L 83C>T STAD-US 1 1203290 1203290 single base substitution G A upstream_gene_variant UCEC-US 1 1190694 1190694 single base substitution G A 3_prime_UTR_variant UCEC-US 1 1190694 1190694 single base substitution G A downstream_gene_variant UCEC-US 1 1190694 1190694 single base substitution G A exon_variant UCEC-US 1 1190694 1190694 single base substitution G A synonymous_variant N171N 513C>T UCEC-US 1 1190694 1190694 single base substitution G A synonymous_variant N188N 564C>T UCEC-US 1 1190694 1190694 single base substitution G A synonymous_variant N223N 669C>T UCEC-US 1 1190694 1190694 single base substitution G A synonymous_variant N239N 717C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-EE-A3J7-06 COSM3862360 c.263C>T p.P88L Substitution - Missense 1:1257268-1257268 - TCGA-IR-A3LL-01 COSM4021285 c.83C>T p.P28L Substitution - Missense 1:1267910-1267910 - TCGA-A3-3373-01 COSM1491681 c.289A>G p.I97V Substitution - Missense 1:1257242-1257242 - LC_S48 COSM1185264 c.232C>T p.H78Y Substitution - Missense 1:1257299-1257299 - TCGA-BR-6452-01 COSM4021203 c.801C>T p.Y267Y Substitution - coding silent 1:1255230-1255230 - LUAD-S01302 COSM395758 c.30G>A p.P10P Substitution - coding silent 1:1267963-1267963 - SNU-175 COSM2179407 c.819G>A p.A273A Substitution - coding silent 1:1255212-1255212 - TCGA-AA-3672-01 COSM267709 c.610G>T p.D204Y Substitution - Missense 1:1255421-1255421 - TCGA-D5-6540-01 COSM1333154 c.287T>C p.M96T Substitution - Missense 1:1257244-1257244 - TCGA-A2-A04P-01 COSM423593 c.785C>T p.A262V Substitution - Missense 1:1255246-1255246 - 0025_CRUK_PC_0025_T1_DNA COSM5421512 c.579C>A p.L193L Substitution - coding silent 1:1255452-1255452 - TCGA-FW-A3R5-06 COSM3472278 c.116C>T p.S39L Substitution - Missense 1:1267877-1267877 - CSCC-6-T COSM4489524 c.348C>T p.F116F Substitution - coding silent 1:1257106-1257106 - CHEWS019 COSM4576172 c.359C>T p.T120M Substitution - Missense 1:1257095-1257095 - T3446 COSM4738681 c.232_234delCAT p.H78delH Deletion - In frame 1:1257297-1257299 - HCC49T COSM1600630 c.715A>G p.N239D Substitution - Missense 1:1255316-1255316 - TCGA-HU-A4H8-01 COSM4021284 c.88C>T p.P30S Substitution - Missense 1:1267905-1267905 - CHC1725T COSM4800810 c.587G>A p.R196K Substitution - Missense 1:1255444-1255444 - TCGA-FR-A3YO-06 COSM3472104 c.262C>T p.P88S Substitution - Missense 1:1257269-1257269 - TCGA-F5-6814-01 COSM3417947 c.578T>C p.L193P Substitution - Missense 1:1255453-1255453 - PD8612a COSM5799972 c.132-10C>T p.? Unknown 1:1264840-1264840 - TCGA-D3-A51G-06 COSM3472104 c.262C>T p.P88S Substitution - Missense 1:1257269-1257269 - ESO-0013 COSM1269621 c.632C>T p.T211M Substitution - Missense 1:1255399-1255399 - TCGA-CM-6162-01 COSM1333142 c.816C>T p.I272I Substitution - coding silent 1:1255215-1255215 - TCGA-DR-A0ZM-01 COSM395758 c.30G>A p.P10P Substitution - coding silent 1:1267963-1267963 - CSCC-2-T COSM4454466 c.497A>C p.N166T Substitution - Missense 1:1256091-1256091 - pfg068T COSM4748449 c.667G>A p.G223R Substitution - Missense 1:1255364-1255364 - TCGA-D3-A51G-06 COSM3472279 c.113C>T p.P38L Substitution - Missense 1:1267880-1267880 - TCGA-DR-A0ZM-01 COSM458661 c.75G>C p.K25N Substitution - Missense 1:1267918-1267918 - TCGA-GF-A6C9-06 COSM4899803 c.600C>T p.L200L Substitution - coding silent 1:1255431-1255431 - TCGA-B7-5816-01 COSM4021216 c.427C>A p.P143T Substitution - Missense 1:1257027-1257027 - T3262 COSM4738679 c.612C>T p.D204D Substitution - coding silent 1:1255419-1255419 - TCGA-BC-4073-01 COSM4937143 c.569A>T p.Q190L Substitution - Missense 1:1255462-1255462 - T3094 COSM4738683 c.16A>G p.S6G Substitution - Missense 1:1267977-1267977 - S02279 COSM5683414 c.606G>A p.L202L Substitution - coding silent 1:1255425-1255425 - YUOMEGA COSM3862360 c.263C>T p.P88L Substitution - Missense 1:1257268-1257268 - MOLT-4 COSM1667061 c.481C>T p.Q161* Substitution - Nonsense 1:1256107-1256107 - PT37 COSM5917461 c.598C>T p.L200F Substitution - Missense 1:1255433-1255433 - CSCC-27-T COSM4502683 c.619C>T p.P207S Substitution - Missense 1:1255412-1255412 - TCGA-CG-5728-01 COSM4021220 c.323+2T>C p.? Unknown 1:1257206-1257206 - TCGA-AA-A02R-01 COSM5126247 c.364A>G p.N122D Substitution - Missense 1:1257090-1257090 - TCGA-C4-A0EZ-01 COSM414143 c.719G>A p.R240Q Substitution - Missense 1:1255312-1255312 - TCGA-BT-A20U-01 COSM414142 c.117G>A p.S39S Substitution - coding silent 1:1267876-1267876 - CSCC-35-T COSM4538432 c.254G>A p.R85K Substitution - Missense 1:1257277-1257277 - TCGA-EE-A29D-06 COSM3472282 c.64C>T p.L22F Substitution - Missense 1:1267929-1267929 - TCGA-EE-A2MR-06 COSM3472278 c.116C>T p.S39L Substitution - Missense 1:1267877-1267877 - TCGA-C8-A274-01 COSM1472473 c.689C>A p.P230Q Substitution - Missense 1:1255342-1255342 - TCGA-BR-8297-01 COSM4021285 c.83C>T p.P28L Substitution - Missense 1:1267910-1267910 - TCGA-EE-A2A2-06 COSM414142 c.117G>A p.S39S Substitution - coding silent 1:1267876-1267876 - CHC1725T COSM4800810 c.587G>A p.R196K Substitution - Missense 1:1255444-1255444 - TCGA-A3-3387-01 COSM462736 c.194G>A p.R65Q Substitution - Missense 1:1263372-1263372 - KM12 COSM2179446 c.370G>A p.A124T Substitution - Missense 1:1257084-1257084 - TCGA-AX-A063-01 COSM894616 c.717C>T p.N239N Substitution - coding silent 1:1255314-1255314 - MDA-N COSM1667062 c.59A>C p.D20A Substitution - Missense 1:1267934-1267934 - MDA-MB-435 COSM1667062 c.59A>C p.D20A Substitution - Missense 1:1267934-1267934 - TCGA-BR-4368-01 COSM4021208 c.681G>T p.G227G Substitution - coding silent 1:1255350-1255350 - SC_9008 COSM414142 c.117G>A p.S39S Substitution - coding silent 1:1267876-1267876 - PCSI_0083_Pa_P_526 COSM3849228 c.136A>G p.K46E Substitution - Missense 1:1264826-1264826 - TCGA-25-1320-01 COSM117094 c.233A>T p.H78L Substitution - Missense 1:1257298-1257298 - HCC49 COSM1600630 c.715A>G p.N239D Substitution - Missense 1:1255316-1255316 - TCGA-BR-4370-01 COSM4021206 c.685G>A p.V229I Substitution - Missense 1:1255346-1255346 - HN_62825 COSM130037 c.337A>T p.I113F Substitution - Missense 1:1257117-1257117 - TCGA-HU-A4H8-01 COSM4021218 c.368C>T p.P123L Substitution - Missense 1:1257086-1257086 - M14 COSM1667062 c.59A>C p.D20A Substitution - Missense 1:1267934-1267934 - TCGA-CG-4305-01 COSM4021212 c.624C>T p.D208D Substitution - coding silent 1:1255407-1255407 - TCGA-G4-6588-01 COSM1333144 c.538G>A p.V180M Substitution - Missense 1:1256050-1256050 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.191911;Hs.191956;Hs.191987 1p36.33

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G SpliceDonorSNV . c.323+2T>C 1 1192586 STAD A - IntronicDeletion . c.220+47delT 1 1198679 CM AT - Frameshift p.L175Ffs*3 c.525_526delAT 1 1191442 HNSC A T Missense p.S147R c.441T>A 1 1192393 CM C A Missense p.G209W c.625G>T 1 1190786 LUAD C A Synonymous p.G227G c.681G>T 1 1190730 STAD C A Synonymous p.P118P c.354G>T 1 1192480 LUAD C T Missense p.R240Q c.719G>A 1 1190692 BLCA C T Missense p.R65Q c.194G>A 1 1198752 RCCC C T Missense p.V229I c.685G>A 1 1190726 STAD C T Synonymous p.S39S c.117G>A 1 1203256 BLCA C T Synonymous p.S39S c.117G>A 1 1203256 CM G A IntronicSNV . c.220+58C>T 1 1198668 CM G A Missense p.A262V c.785C>T 1 1190626 BRCA G A Missense p.P88L c.263C>T 1 1192648 CM G A Synonymous p.D208D c.624C>T 1 1190787 STAD G A Synonymous p.N239N c.717C>T 1 1190694 UCEC G A Synonymous p.V214V c.642C>T 1 1190769 LUAD GG AA Missense p.P36L c.107_108delinsTT 1 1203265 CM G T Missense p.P143T c.427C>A 1 1192407 STAD G T Missense p.P230Q c.689C>A 1 1190722 BRCA T A Missense p.H78L c.233A>T 1 1192678 OV T A Missense p.I113F c.337A>T 1 1192497 HNSC T G IntronicSNV . c.220+227A>C 1 1198499 CLL