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 12 42554413 42554413 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 g.chr12:42554413G>A c.521C>T c.(520-522)tCa>tTa p.S174L BLCA 12 42631500 42631500 + Nonsense_Mutation SNP G G T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 g.chr12:42631500G>T c.53C>A c.(52-54)tCg>tAg p.S18* BRCA 12 42554570 42554570 + Missense_Mutation SNP C C T TCGA-A8-A084-01A-21W-A019-09 TCGA-A8-A084-10A-01W-A021-09 g.chr12:42554570C>T c.364G>A c.(364-366)Gat>Aat p.D122N BRCA 12 42555485 42555485 + Missense_Mutation SNP T T G TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr12:42555485T>G c.235A>C c.(235-237)Aaa>Caa p.K79Q CESC 12 42554402 42554402 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chr12:42554402C>T c.532G>A c.(532-534)Gaa>Aaa p.E178K CESC 12 42554468 42554468 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chr12:42554468C>G c.466G>C c.(466-468)Gat>Cat p.D156H CHOL 12 42555512 42555512 + Missense_Mutation SNP G G A TCGA-4G-AAZT-01A-11D-A417-09 TCGA-4G-AAZT-10A-01D-A41A-09 g.chr12:42555512G>A c.208C>T c.(208-210)Cct>Tct p.P70S COAD 12 42554583 42554583 + Missense_Mutation SNP T T G TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr12:42554583T>G c.351A>C c.(349-351)gaA>gaC p.E117D COADREAD 12 42554583 42554583 + Missense_Mutation SNP T T G TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr12:42554583T>G c.351A>C c.(349-351)gaA>gaC p.E117D HNSC 12 42554626 42554626 + Missense_Mutation SNP G G C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 g.chr12:42554626G>C c.308C>G c.(307-309)cCa>cGa p.P103R HNSC 12 42555436 42555436 + Missense_Mutation SNP T T A TCGA-P3-A6T4-01A-11D-A34J-08 TCGA-P3-A6T4-10A-01D-A34M-08 g.chr12:42555436T>A c.284A>T c.(283-285)aAg>aTg p.K95M LIHC 12 42555530 42555530 + Missense_Mutation SNP C C T TCGA-DD-AAD2-01A-11D-A40R-10 TCGA-DD-AAD2-10A-01D-A40U-10 g.chr12:42555530C>T c.190G>A c.(190-192)Gtt>Att p.V64I LUSC 12 42554479 42554479 + Missense_Mutation SNP C C A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 g.chr12:42554479C>A c.455G>T c.(454-456)gGc>gTc p.G152V LUSC 12 42554480 42554480 + Missense_Mutation SNP C C T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 g.chr12:42554480C>T c.454G>A c.(454-456)Ggc>Agc p.G152S LUSC 12 42554536 42554536 + Missense_Mutation SNP T T A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 g.chr12:42554536T>A c.398A>T c.(397-399)aAa>aTa p.K133I SARC 12 42554627 42554627 + Splice_Site SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 g.chr12:42554627G>A c.307C>T c.(307-309)Cca>Tca p.P103S SARC 12 42555465 42555465 + Silent SNP T T C TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 g.chr12:42555465T>C c.255A>G c.(253-255)gaA>gaG p.E85E

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 12 42554413 42554413 single base substitution G A 3_prime_UTR_variant BLCA-US 12 42554413 42554413 single base substitution G A downstream_gene_variant BLCA-US 12 42554413 42554413 single base substitution G A exon_variant BLCA-US 12 42554413 42554413 single base substitution G A missense_variant S132L 395C>T BLCA-US 12 42554413 42554413 single base substitution G A missense_variant S150L 449C>T BLCA-US 12 42554413 42554413 single base substitution G A missense_variant S165L 494C>T BLCA-US 12 42554413 42554413 single base substitution G A missense_variant S174L 521C>T BLCA-US 12 42554413 42554413 single base substitution G A missense_variant S198L 593C>T BOCA-FR 12 42630863 42630864 multiple base substitution (>=2bp and <=200bp) CT AA intron_variant BRCA-EU 12 42546390 42546390 single base substitution T C downstream_gene_variant BRCA-EU 12 42548384 42548384 single base substitution C T downstream_gene_variant BRCA-EU 12 42548724 42548724 single base substitution C T downstream_gene_variant BRCA-EU 12 42549676 42549676 single base substitution A C downstream_gene_variant BRCA-EU 12 42549942 42549942 single base substitution T G downstream_gene_variant BRCA-EU 12 42550532 42550532 single base substitution C T downstream_gene_variant BRCA-EU 12 42554395 42554395 single base substitution T G 3_prime_UTR_variant BRCA-EU 12 42554395 42554395 single base substitution T G downstream_gene_variant BRCA-EU 12 42554395 42554395 single base substitution T G exon_variant BRCA-EU 12 42554395 42554395 single base substitution T G missense_variant H138P 413A>C BRCA-EU 12 42554395 42554395 single base substitution T G missense_variant H156P 467A>C BRCA-EU 12 42554395 42554395 single base substitution T G missense_variant H171P 512A>C BRCA-EU 12 42554395 42554395 single base substitution T G missense_variant H180P 539A>C BRCA-EU 12 42554395 42554395 single base substitution T G missense_variant H204P 611A>C BRCA-EU 12 42555288 42555288 single base substitution C A downstream_gene_variant BRCA-EU 12 42555288 42555288 single base substitution C A exon_variant BRCA-EU 12 42555288 42555288 single base substitution C A intron_variant BRCA-EU 12 42555860 42555860 deletion of <=200bp A - intron_variant BRCA-EU 12 42555860 42555860 deletion of <=200bp A - upstream_gene_variant BRCA-EU 12 42556839 42556839 single base substitution G A intron_variant BRCA-EU 12 42556839 42556839 single base substitution G A upstream_gene_variant BRCA-EU 12 42557416 42557416 single base substitution C T intron_variant BRCA-EU 12 42557416 42557416 single base substitution C T upstream_gene_variant BRCA-EU 12 42558123 42558123 single base substitution G A intron_variant BRCA-EU 12 42558123 42558123 single base substitution G A upstream_gene_variant BRCA-EU 12 42559030 42559030 single base substitution A G intron_variant BRCA-EU 12 42559030 42559030 single base substitution A G upstream_gene_variant BRCA-EU 12 42559566 42559566 single base substitution C T intron_variant BRCA-EU 12 42559566 42559566 single base substitution C T upstream_gene_variant BRCA-EU 12 42560170 42560170 single base substitution G C intron_variant BRCA-EU 12 42560170 42560170 single base substitution G C upstream_gene_variant BRCA-EU 12 42561188 42561188 single base substitution G A intron_variant BRCA-EU 12 42562104 42562104 single base substitution T C intron_variant BRCA-EU 12 42563040 42563040 single base substitution A G intron_variant BRCA-EU 12 42563196 42563196 single base substitution C G intron_variant BRCA-EU 12 42563413 42563413 single base substitution C T intron_variant BRCA-EU 12 42564094 42564094 single base substitution G A intron_variant BRCA-EU 12 42564725 42564725 single base substitution T C intron_variant BRCA-EU 12 42564793 42564793 deletion of <=200bp T - intron_variant BRCA-EU 12 42566038 42566038 single base substitution G C intron_variant BRCA-EU 12 42567613 42567613 single base substitution C T intron_variant BRCA-EU 12 42567635 42567635 single base substitution C G intron_variant BRCA-EU 12 42568456 42568456 insertion of <=200bp - T intron_variant BRCA-EU 12 42569521 42569521 single base substitution C T intron_variant BRCA-EU 12 42570372 42570372 single base substitution C A intron_variant BRCA-EU 12 42573101 42573101 single base substitution G A intron_variant BRCA-EU 12 42573779 42573779 single base substitution C T intron_variant BRCA-EU 12 42574699 42574699 single base substitution G C intron_variant BRCA-EU 12 42576177 42576177 insertion of <=200bp - A intron_variant BRCA-EU 12 42580087 42580087 single base substitution C T intron_variant BRCA-EU 12 42580294 42580294 single base substitution G A intron_variant BRCA-EU 12 42582721 42582721 single base substitution G A intron_variant BRCA-EU 12 42583483 42583483 deletion of <=200bp T - intron_variant BRCA-EU 12 42585177 42585177 deletion of <=200bp T - intron_variant BRCA-EU 12 42585462 42585462 single base substitution A C intron_variant BRCA-EU 12 42585713 42585713 single base substitution G A intron_variant BRCA-EU 12 42586427 42586427 single base substitution A G intron_variant BRCA-EU 12 42586774 42586774 single base substitution G A intron_variant BRCA-EU 12 42587516 42587516 single base substitution G A intron_variant BRCA-EU 12 42588365 42588365 single base substitution G A intron_variant BRCA-EU 12 42588828 42588828 single base substitution C G intron_variant BRCA-EU 12 42595006 42595006 single base substitution G A intron_variant BRCA-EU 12 42595006 42595006 single base substitution G A upstream_gene_variant BRCA-EU 12 42595147 42595147 single base substitution C T intron_variant BRCA-EU 12 42595147 42595147 single base substitution C T upstream_gene_variant BRCA-EU 12 42595570 42595570 single base substitution C T intron_variant BRCA-EU 12 42595570 42595570 single base substitution C T upstream_gene_variant BRCA-EU 12 42595861 42595861 single base substitution A C intron_variant BRCA-EU 12 42595861 42595861 single base substitution A C upstream_gene_variant BRCA-EU 12 42595907 42595907 insertion of <=200bp - C intron_variant BRCA-EU 12 42595907 42595907 insertion of <=200bp - C upstream_gene_variant BRCA-EU 12 42596510 42596510 single base substitution G C intron_variant BRCA-EU 12 42596510 42596510 single base substitution G C upstream_gene_variant BRCA-EU 12 42597007 42597021 deletion of <=200bp TCTAATTTTATGTCC - intron_variant BRCA-EU 12 42597007 42597021 deletion of <=200bp TCTAATTTTATGTCC - upstream_gene_variant BRCA-EU 12 42598537 42598537 single base substitution C T intron_variant BRCA-EU 12 42598729 42598729 insertion of <=200bp - A intron_variant BRCA-EU 12 42599811 42599811 single base substitution C T intron_variant BRCA-EU 12 42602157 42602157 single base substitution G A intron_variant BRCA-EU 12 42602217 42602217 single base substitution G A intron_variant BRCA-EU 12 42604791 42604791 single base substitution A G intron_variant BRCA-EU 12 42604791 42604791 single base substitution A G upstream_gene_variant BRCA-EU 12 42606377 42606377 single base substitution C A intron_variant BRCA-EU 12 42606377 42606377 single base substitution C A upstream_gene_variant BRCA-EU 12 42607646 42607646 single base substitution C T intron_variant BRCA-EU 12 42607646 42607646 single base substitution C T upstream_gene_variant BRCA-EU 12 42609467 42609467 single base substitution A C intron_variant BRCA-EU 12 42609467 42609467 single base substitution A C upstream_gene_variant BRCA-EU 12 42611028 42611031 deletion of <=200bp GTAA - intron_variant BRCA-EU 12 42611271 42611271 single base substitution A C intron_variant BRCA-EU 12 42611462 42611462 deletion of <=200bp A - intron_variant BRCA-EU 12 42612079 42612079 single base substitution T G intron_variant BRCA-EU 12 42612672 42612672 deletion of <=200bp A - intron_variant BRCA-EU 12 42613308 42613308 single base substitution G T intron_variant BRCA-EU 12 42613781 42613781 single base substitution A G intron_variant BRCA-EU 12 42614717 42614717 single base substitution G A intron_variant BRCA-EU 12 42614799 42614799 single base substitution T A intron_variant BRCA-EU 12 42614977 42614977 single base substitution G C intron_variant BRCA-EU 12 42615364 42615364 deletion of <=200bp A - intron_variant BRCA-EU 12 42615372 42615372 deletion of <=200bp T - intron_variant BRCA-EU 12 42615875 42615875 single base substitution G A intron_variant BRCA-EU 12 42616304 42616304 single base substitution C T intron_variant BRCA-EU 12 42616687 42616687 single base substitution G C intron_variant BRCA-EU 12 42617618 42617618 single base substitution G A intron_variant BRCA-EU 12 42620093 42620093 single base substitution T A downstream_gene_variant BRCA-EU 12 42620093 42620093 single base substitution T A intron_variant BRCA-EU 12 42621040 42621040 single base substitution T C downstream_gene_variant BRCA-EU 12 42621040 42621040 single base substitution T C intron_variant BRCA-EU 12 42622512 42622512 single base substitution G A downstream_gene_variant BRCA-EU 12 42622512 42622512 single base substitution G A intron_variant BRCA-EU 12 42622562 42622562 single base substitution G A downstream_gene_variant BRCA-EU 12 42622562 42622562 single base substitution G A intron_variant BRCA-EU 12 42623903 42623903 insertion of <=200bp - A downstream_gene_variant BRCA-EU 12 42623903 42623903 insertion of <=200bp - A intron_variant BRCA-EU 12 42624708 42624708 single base substitution A C downstream_gene_variant BRCA-EU 12 42624708 42624708 single base substitution A C intron_variant BRCA-EU 12 42626628 42626628 single base substitution A T 3_prime_UTR_variant BRCA-EU 12 42626628 42626628 single base substitution A T downstream_gene_variant BRCA-EU 12 42626628 42626628 single base substitution A T exon_variant BRCA-EU 12 42626628 42626628 single base substitution A T intron_variant BRCA-EU 12 42627253 42627253 single base substitution A G 3_prime_UTR_variant BRCA-EU 12 42627253 42627253 single base substitution A G downstream_gene_variant BRCA-EU 12 42627253 42627253 single base substitution A G exon_variant BRCA-EU 12 42627253 42627253 single base substitution A G intron_variant BRCA-EU 12 42628766 42628766 single base substitution G T 3_prime_UTR_variant BRCA-EU 12 42628766 42628766 single base substitution G T downstream_gene_variant BRCA-EU 12 42628766 42628766 single base substitution G T exon_variant BRCA-EU 12 42628766 42628766 single base substitution G T intron_variant BRCA-EU 12 42629939 42629939 single base substitution T A intron_variant BRCA-EU 12 42630683 42630683 single base substitution T G intron_variant BRCA-EU 12 42630747 42630747 single base substitution G A intron_variant BRCA-EU 12 42631629 42631629 single base substitution C A intron_variant BRCA-EU 12 42631629 42631629 single base substitution C A upstream_gene_variant BRCA-EU 12 42632735 42632735 single base substitution G T upstream_gene_variant BRCA-EU 12 42632994 42632994 single base substitution C G upstream_gene_variant BRCA-EU 12 42633890 42633890 single base substitution T G upstream_gene_variant BRCA-EU 12 42634044 42634044 insertion of <=200bp - AA upstream_gene_variant BRCA-EU 12 42635473 42635473 deletion of <=200bp T - upstream_gene_variant BRCA-EU 12 42635538 42635538 single base substitution A T upstream_gene_variant BRCA-EU 12 42635943 42635943 single base substitution T C upstream_gene_variant BRCA-EU 12 42636328 42636328 single base substitution G T upstream_gene_variant BRCA-EU 12 42637106 42637106 single base substitution G C upstream_gene_variant BRCA-FR 12 42549676 42549676 single base substitution A C downstream_gene_variant BRCA-FR 12 42549942 42549942 single base substitution T G downstream_gene_variant BRCA-FR 12 42561188 42561188 single base substitution G A intron_variant BRCA-FR 12 42563196 42563196 single base substitution C G intron_variant BRCA-FR 12 42567613 42567613 single base substitution C T intron_variant BRCA-FR 12 42567635 42567635 single base substitution C G intron_variant BRCA-FR 12 42595949 42595949 single base substitution C T intron_variant BRCA-FR 12 42595949 42595949 single base substitution C T upstream_gene_variant BRCA-FR 12 42596791 42596791 single base substitution C T intron_variant BRCA-FR 12 42596791 42596791 single base substitution C T upstream_gene_variant BRCA-FR 12 42611271 42611271 single base substitution A C intron_variant BRCA-FR 12 42614717 42614717 single base substitution G A intron_variant BRCA-FR 12 42615875 42615875 single base substitution G A intron_variant BRCA-FR 12 42631659 42631659 single base substitution C G intron_variant BRCA-FR 12 42631659 42631659 single base substitution C G upstream_gene_variant BRCA-FR 12 42631881 42631881 single base substitution G T intron_variant BRCA-FR 12 42631881 42631881 single base substitution G T upstream_gene_variant BRCA-FR 12 42632735 42632735 single base substitution G T upstream_gene_variant BRCA-KR 12 42554575 42554575 single base substitution A G 3_prime_UTR_variant BRCA-KR 12 42554575 42554575 single base substitution A G downstream_gene_variant BRCA-KR 12 42554575 42554575 single base substitution A G exon_variant BRCA-KR 12 42554575 42554575 single base substitution A G missense_variant V111A 332T>C BRCA-KR 12 42554575 42554575 single base substitution A G missense_variant V120A 359T>C BRCA-KR 12 42554575 42554575 single base substitution A G missense_variant V144A 431T>C BRCA-KR 12 42554575 42554575 single base substitution A G missense_variant V78A 233T>C BRCA-KR 12 42554575 42554575 single base substitution A G missense_variant V96A 287T>C BRCA-UK 12 42559030 42559030 single base substitution A G intron_variant BRCA-UK 12 42559030 42559030 single base substitution A G upstream_gene_variant BRCA-UK 12 42564094 42564094 single base substitution G A intron_variant BRCA-UK 12 42570372 42570372 single base substitution C A intron_variant BRCA-UK 12 42571734 42571734 single base substitution C G intron_variant BRCA-US 12 42554570 42554570 single base substitution C T 3_prime_UTR_variant BRCA-US 12 42554570 42554570 single base substitution C T downstream_gene_variant BRCA-US 12 42554570 42554570 single base substitution C T exon_variant BRCA-US 12 42554570 42554570 single base substitution C T missense_variant D113N 337G>A BRCA-US 12 42554570 42554570 single base substitution C T missense_variant D122N 364G>A BRCA-US 12 42554570 42554570 single base substitution C T missense_variant D146N 436G>A BRCA-US 12 42554570 42554570 single base substitution C T missense_variant D80N 238G>A BRCA-US 12 42554570 42554570 single base substitution C T missense_variant D98N 292G>A BRCA-US 12 42555485 42555485 single base substitution T G 3_prime_UTR_variant BRCA-US 12 42555485 42555485 single base substitution T G downstream_gene_variant BRCA-US 12 42555485 42555485 single base substitution T G exon_variant BRCA-US 12 42555485 42555485 single base substitution T G missense_variant K103Q 307A>C BRCA-US 12 42555485 42555485 single base substitution T G missense_variant K37Q 109A>C BRCA-US 12 42555485 42555485 single base substitution T G missense_variant K55Q 163A>C BRCA-US 12 42555485 42555485 single base substitution T G missense_variant K70Q 208A>C BRCA-US 12 42555485 42555485 single base substitution T G missense_variant K79Q 235A>C BRCA-US 12 42555485 42555485 single base substitution T G upstream_gene_variant BRCA-US 12 42629602 42629602 single base substitution G T exon_variant BRCA-US 12 42629602 42629602 single base substitution G T intron_variant BRCA-US 12 42629602 42629602 single base substitution G T missense_variant A117D 350C>A BTCA-JP 12 42604118 42604118 single base substitution G A intron_variant BTCA-JP 12 42629563 42629563 deletion of <=200bp A - 3_prime_UTR_variant BTCA-JP 12 42629563 42629563 deletion of <=200bp A - exon_variant BTCA-JP 12 42629563 42629563 deletion of <=200bp A - intron_variant BTCA-JP 12 42629563 42629563 deletion of <=200bp A - splice_region_variant CESC-US 12 42554402 42554402 single base substitution C T 3_prime_UTR_variant CESC-US 12 42554402 42554402 single base substitution C T downstream_gene_variant CESC-US 12 42554402 42554402 single base substitution C T exon_variant CESC-US 12 42554402 42554402 single base substitution C T missense_variant E136K 406G>A CESC-US 12 42554402 42554402 single base substitution C T missense_variant E154K 460G>A CESC-US 12 42554402 42554402 single base substitution C T missense_variant E169K 505G>A CESC-US 12 42554402 42554402 single base substitution C T missense_variant E178K 532G>A CESC-US 12 42554402 42554402 single base substitution C T missense_variant E202K 604G>A CESC-US 12 42554468 42554468 single base substitution C G 3_prime_UTR_variant CESC-US 12 42554468 42554468 single base substitution C G downstream_gene_variant CESC-US 12 42554468 42554468 single base substitution C G exon_variant CESC-US 12 42554468 42554468 single base substitution C G missense_variant D114H 340G>C CESC-US 12 42554468 42554468 single base substitution C G missense_variant D132H 394G>C CESC-US 12 42554468 42554468 single base substitution C G missense_variant D147H 439G>C CESC-US 12 42554468 42554468 single base substitution C G missense_variant D156H 466G>C CESC-US 12 42554468 42554468 single base substitution C G missense_variant D180H 538G>C CESC-US 12 42629419 42629419 single base substitution C T 3_prime_UTR_variant CESC-US 12 42629419 42629419 single base substitution C T downstream_gene_variant CESC-US 12 42629419 42629419 single base substitution C T exon_variant CESC-US 12 42629419 42629419 single base substitution C T intron_variant CLLE-ES 12 42546425 42546425 single base substitution G A downstream_gene_variant CLLE-ES 12 42572148 42572148 single base substitution C A intron_variant CLLE-ES 12 42594168 42594168 deletion of <=200bp T - intron_variant CLLE-ES 12 42594168 42594168 deletion of <=200bp T - upstream_gene_variant CLLE-ES 12 42620344 42620344 single base substitution T C downstream_gene_variant CLLE-ES 12 42620344 42620344 single base substitution T C intron_variant COCA-CN 12 42554352 42554352 single base substitution G A 3_prime_UTR_variant COCA-CN 12 42554352 42554352 single base substitution G A downstream_gene_variant COCA-CN 12 42554352 42554352 single base substitution G A exon_variant COCA-CN 12 42554447 42554447 single base substitution A G 3_prime_UTR_variant COCA-CN 12 42554447 42554447 single base substitution A G downstream_gene_variant COCA-CN 12 42554447 42554447 single base substitution A G exon_variant COCA-CN 12 42554447 42554447 single base substitution A G missense_variant S121P 361T>C COCA-CN 12 42554447 42554447 single base substitution A G missense_variant S139P 415T>C COCA-CN 12 42554447 42554447 single base substitution A G missense_variant S154P 460T>C COCA-CN 12 42554447 42554447 single base substitution A G missense_variant S163P 487T>C COCA-CN 12 42554447 42554447 single base substitution A G missense_variant S187P 559T>C COCA-CN 12 42558031 42558031 single base substitution A G intron_variant COCA-CN 12 42558031 42558031 single base substitution A G upstream_gene_variant COCA-CN 12 42570808 42570808 single base substitution C A intron_variant COCA-CN 12 42584901 42584901 single base substitution T A intron_variant COCA-CN 12 42585939 42585939 single base substitution T A intron_variant COCA-CN 12 42604486 42604486 single base substitution T A exon_variant COCA-CN 12 42604486 42604486 single base substitution T A intron_variant COCA-CN 12 42604486 42604486 single base substitution T A splice_region_variant COCA-CN 12 42610934 42610934 single base substitution G A intron_variant COCA-CN 12 42613296 42613296 single base substitution T A intron_variant COCA-CN 12 42629439 42629439 single base substitution G C 3_prime_UTR_variant COCA-CN 12 42629439 42629439 single base substitution G C downstream_gene_variant COCA-CN 12 42629439 42629439 single base substitution G C exon_variant COCA-CN 12 42629439 42629439 single base substitution G C intron_variant COCA-CN 12 42629731 42629731 single base substitution C A exon_variant COCA-CN 12 42629731 42629731 single base substitution C A intron_variant COCA-CN 12 42629731 42629731 single base substitution C A missense_variant R74I 221G>T EOPC-DE 12 42586384 42586384 single base substitution G A intron_variant EOPC-DE 12 42617003 42617003 single base substitution C T intron_variant ESAD-UK 12 42547143 42547143 insertion of <=200bp - A downstream_gene_variant ESAD-UK 12 42547794 42547794 single base substitution A T downstream_gene_variant ESAD-UK 12 42548150 42548150 single base substitution G A downstream_gene_variant ESAD-UK 12 42548154 42548154 insertion of <=200bp - A downstream_gene_variant ESAD-UK 12 42548548 42548550 deletion of <=200bp AGG - downstream_gene_variant ESAD-UK 12 42551408 42551408 single base substitution A C 3_prime_UTR_variant ESAD-UK 12 42551408 42551408 single base substitution A C downstream_gene_variant ESAD-UK 12 42551857 42551857 single base substitution A G 3_prime_UTR_variant ESAD-UK 12 42551857 42551857 single base substitution A G downstream_gene_variant ESAD-UK 12 42555403 42555403 single base substitution C T downstream_gene_variant ESAD-UK 12 42555403 42555403 single base substitution C T exon_variant ESAD-UK 12 42555403 42555403 single base substitution C T intron_variant ESAD-UK 12 42555797 42555797 single base substitution T C intron_variant ESAD-UK 12 42555797 42555797 single base substitution T C upstream_gene_variant ESAD-UK 12 42558185 42558185 single base substitution G A intron_variant ESAD-UK 12 42558185 42558185 single base substitution G A upstream_gene_variant ESAD-UK 12 42558954 42558954 single base substitution C G intron_variant ESAD-UK 12 42558954 42558954 single base substitution C G upstream_gene_variant ESAD-UK 12 42559463 42559463 single base substitution C T intron_variant ESAD-UK 12 42559463 42559463 single base substitution C T upstream_gene_variant ESAD-UK 12 42560810 42560810 single base substitution C A intron_variant ESAD-UK 12 42561187 42561187 single base substitution C T intron_variant ESAD-UK 12 42563011 42563011 single base substitution G C intron_variant ESAD-UK 12 42563017 42563017 single base substitution T A intron_variant ESAD-UK 12 42563185 42563185 single base substitution T G intron_variant ESAD-UK 12 42564448 42564448 single base substitution C A intron_variant ESAD-UK 12 42565453 42565453 single base substitution C A intron_variant ESAD-UK 12 42566251 42566251 single base substitution G C intron_variant ESAD-UK 12 42568444 42568444 single base substitution G A intron_variant ESAD-UK 12 42568456 42568456 deletion of <=200bp T - intron_variant ESAD-UK 12 42568856 42568856 single base substitution C A intron_variant ESAD-UK 12 42568912 42568912 single base substitution A G intron_variant ESAD-UK 12 42569366 42569366 single base substitution T A intron_variant ESAD-UK 12 42572667 42572667 single base substitution T C intron_variant ESAD-UK 12 42576993 42576993 single base substitution T C intron_variant ESAD-UK 12 42579606 42579606 single base substitution G C intron_variant ESAD-UK 12 42580677 42580677 single base substitution G A intron_variant ESAD-UK 12 42581244 42581244 single base substitution C A intron_variant ESAD-UK 12 42583852 42583852 single base substitution A T intron_variant ESAD-UK 12 42584316 42584316 single base substitution C T intron_variant ESAD-UK 12 42585337 42585337 single base substitution G A intron_variant ESAD-UK 12 42585408 42585408 single base substitution C T intron_variant ESAD-UK 12 42585538 42585538 single base substitution T A intron_variant ESAD-UK 12 42586086 42586086 single base substitution G C intron_variant ESAD-UK 12 42586519 42586519 single base substitution G A intron_variant ESAD-UK 12 42588543 42588543 single base substitution C T intron_variant ESAD-UK 12 42589441 42589441 single base substitution T A intron_variant ESAD-UK 12 42590133 42590133 single base substitution A C intron_variant ESAD-UK 12 42591178 42591178 single base substitution G A intron_variant ESAD-UK 12 42591812 42591812 deletion of <=200bp A - intron_variant ESAD-UK 12 42592171 42592171 single base substitution A T intron_variant ESAD-UK 12 42593111 42593111 single base substitution C A exon_variant ESAD-UK 12 42593111 42593111 single base substitution C A intron_variant ESAD-UK 12 42593447 42593447 single base substitution G A intron_variant ESAD-UK 12 42593447 42593447 single base substitution G A upstream_gene_variant ESAD-UK 12 42595195 42595195 single base substitution T C intron_variant ESAD-UK 12 42595195 42595195 single base substitution T C upstream_gene_variant ESAD-UK 12 42595311 42595311 single base substitution G A intron_variant ESAD-UK 12 42595311 42595311 single base substitution G A upstream_gene_variant ESAD-UK 12 42596530 42596530 single base substitution T A intron_variant ESAD-UK 12 42596530 42596530 single base substitution T A upstream_gene_variant ESAD-UK 12 42597382 42597382 single base substitution G A intron_variant ESAD-UK 12 42597382 42597382 single base substitution G A upstream_gene_variant ESAD-UK 12 42598300 42598300 single base substitution A G intron_variant ESAD-UK 12 42598300 42598300 single base substitution A G upstream_gene_variant ESAD-UK 12 42599969 42599969 single base substitution T C intron_variant ESAD-UK 12 42601836 42601836 single base substitution C A intron_variant ESAD-UK 12 42605945 42605945 single base substitution T G intron_variant ESAD-UK 12 42605945 42605945 single base substitution T G upstream_gene_variant ESAD-UK 12 42606107 42606107 single base substitution A G intron_variant ESAD-UK 12 42606107 42606107 single base substitution A G upstream_gene_variant ESAD-UK 12 42612786 42612786 single base substitution G A intron_variant ESAD-UK 12 42613009 42613009 single base substitution A G intron_variant ESAD-UK 12 42615631 42615631 single base substitution C T intron_variant ESAD-UK 12 42617158 42617158 insertion of <=200bp - AT intron_variant ESAD-UK 12 42618784 42618784 single base substitution C A intron_variant ESAD-UK 12 42618969 42618969 single base substitution T C intron_variant ESAD-UK 12 42619008 42619008 single base substitution G A intron_variant ESAD-UK 12 42623281 42623281 single base substitution G T downstream_gene_variant ESAD-UK 12 42623281 42623281 single base substitution G T intron_variant ESAD-UK 12 42623931 42623931 single base substitution C T downstream_gene_variant ESAD-UK 12 42623931 42623931 single base substitution C T intron_variant ESAD-UK 12 42624065 42624073 deletion of <=200bp AAGAAAGAG - downstream_gene_variant ESAD-UK 12 42624065 42624073 deletion of <=200bp AAGAAAGAG - intron_variant ESAD-UK 12 42624901 42624901 single base substitution T G downstream_gene_variant ESAD-UK 12 42624901 42624901 single base substitution T G intron_variant ESAD-UK 12 42626296 42626296 single base substitution A G 3_prime_UTR_variant ESAD-UK 12 42626296 42626296 single base substitution A G downstream_gene_variant ESAD-UK 12 42626296 42626296 single base substitution A G exon_variant ESAD-UK 12 42626296 42626296 single base substitution A G intron_variant ESAD-UK 12 42626558 42626558 insertion of <=200bp - AGAT 3_prime_UTR_variant ESAD-UK 12 42626558 42626558 insertion of <=200bp - AGAT downstream_gene_variant ESAD-UK 12 42626558 42626558 insertion of <=200bp - AGAT exon_variant ESAD-UK 12 42626558 42626558 insertion of <=200bp - AGAT intron_variant ESAD-UK 12 42627280 42627280 single base substitution C T 3_prime_UTR_variant ESAD-UK 12 42627280 42627280 single base substitution C T downstream_gene_variant ESAD-UK 12 42627280 42627280 single base substitution C T exon_variant ESAD-UK 12 42627280 42627280 single base substitution C T intron_variant ESAD-UK 12 42628483 42628483 insertion of <=200bp - C 3_prime_UTR_variant ESAD-UK 12 42628483 42628483 insertion of <=200bp - C downstream_gene_variant ESAD-UK 12 42628483 42628483 insertion of <=200bp - C exon_variant ESAD-UK 12 42628483 42628483 insertion of <=200bp - C intron_variant ESAD-UK 12 42629645 42629645 single base substitution C T exon_variant ESAD-UK 12 42629645 42629645 single base substitution C T intron_variant ESAD-UK 12 42629645 42629645 single base substitution C T missense_variant G103R 307G>A ESAD-UK 12 42629784 42629784 single base substitution C A exon_variant ESAD-UK 12 42629784 42629784 single base substitution C A intron_variant ESAD-UK 12 42629784 42629784 single base substitution C A synonymous_variant G56G 168G>T ESAD-UK 12 42629981 42629981 deletion of <=200bp A - intron_variant ESAD-UK 12 42632232 42632232 single base substitution C T upstream_gene_variant ESAD-UK 12 42635502 42635505 deletion of <=200bp TGTT - upstream_gene_variant ESCA-CN 12 42555611 42555611 single base substitution A C intron_variant ESCA-CN 12 42555611 42555611 single base substitution A C upstream_gene_variant LAML-KR 12 42611989 42611989 single base substitution C A intron_variant LAML-KR 12 42622191 42622191 single base substitution T C downstream_gene_variant LAML-KR 12 42622191 42622191 single base substitution T C intron_variant LAML-KR 12 42622479 42622479 single base substitution T C downstream_gene_variant LAML-KR 12 42622479 42622479 single base substitution T C intron_variant LAML-KR 12 42622515 42622515 single base substitution G A downstream_gene_variant LAML-KR 12 42622515 42622515 single base substitution G A intron_variant LICA-CN 12 42631408 42631408 single base substitution A T exon_variant LICA-CN 12 42631408 42631408 single base substitution A T intron_variant LICA-CN 12 42631408 42631408 single base substitution A T missense_variant S10T 28T>A LICA-CN 12 42631408 42631408 single base substitution A T missense_variant S49T 145T>A LICA-CN 12 42631408 42631408 single base substitution A T synonymous_variant P6P 18T>A LICA-CN 12 42631408 42631408 single base substitution A T upstream_gene_variant LICA-FR 12 42568283 42568283 single base substitution C G intron_variant LICA-FR 12 42580338 42580338 single base substitution C T intron_variant LICA-FR 12 42598142 42598142 single base substitution T A intron_variant LICA-FR 12 42598142 42598142 single base substitution T A upstream_gene_variant LICA-FR 12 42601075 42601075 single base substitution T C intron_variant LICA-FR 12 42605871 42605871 single base substitution T C intron_variant LICA-FR 12 42605871 42605871 single base substitution T C upstream_gene_variant LICA-FR 12 42611985 42611985 insertion of <=200bp - GA intron_variant LICA-FR 12 42612345 42612345 single base substitution T A intron_variant LICA-FR 12 42616009 42616009 single base substitution A T intron_variant LICA-FR 12 42629611 42629611 single base substitution A C exon_variant LICA-FR 12 42629611 42629611 single base substitution A C intron_variant LICA-FR 12 42629611 42629611 single base substitution A C stop_gained L114* 341T>G LICA-FR 12 42629785 42629785 single base substitution C T exon_variant LICA-FR 12 42629785 42629785 single base substitution C T intron_variant LICA-FR 12 42629785 42629785 single base substitution C T missense_variant G56E 167G>A LICA-FR 12 42631967 42631969 deletion of <=200bp TCT - 5_prime_UTR_variant LICA-FR 12 42631967 42631969 deletion of <=200bp TCT - disruptive_inframe_deletion KS5S LICA-FR 12 42631967 42631969 deletion of <=200bp TCT - exon_variant LICA-FR 12 42631967 42631969 deletion of <=200bp TCT - upstream_gene_variant LICA-FR 12 42633591 42633591 single base substitution A G upstream_gene_variant LINC-JP 12 42569768 42569768 single base substitution G C intron_variant LINC-JP 12 42571973 42571973 single base substitution G A intron_variant LINC-JP 12 42575658 42575658 single base substitution T C intron_variant LINC-JP 12 42577658 42577658 single base substitution T C intron_variant LINC-JP 12 42593065 42593065 single base substitution G C exon_variant LINC-JP 12 42593065 42593065 single base substitution G C intron_variant LINC-JP 12 42594704 42594704 single base substitution C T intron_variant LINC-JP 12 42594704 42594704 single base substitution C T upstream_gene_variant LINC-JP 12 42598414 42598414 single base substitution T C intron_variant LINC-JP 12 42603060 42603060 deletion of <=200bp A - intron_variant LINC-JP 12 42610508 42610508 single base substitution T G intron_variant LINC-JP 12 42611973 42611973 single base substitution T C intron_variant LINC-JP 12 42617159 42617159 single base substitution T C intron_variant LINC-JP 12 42627391 42627391 single base substitution G T 3_prime_UTR_variant LINC-JP 12 42627391 42627391 single base substitution G T downstream_gene_variant LINC-JP 12 42627391 42627391 single base substitution G T exon_variant LINC-JP 12 42627391 42627391 single base substitution G T intron_variant LINC-JP 12 42635624 42635624 single base substitution C A upstream_gene_variant LIRI-JP 12 42548390 42548390 single base substitution C A downstream_gene_variant LIRI-JP 12 42548988 42548988 single base substitution T C downstream_gene_variant LIRI-JP 12 42549665 42549665 single base substitution A C downstream_gene_variant LIRI-JP 12 42549889 42549889 single base substitution T C downstream_gene_variant LIRI-JP 12 42550839 42550839 single base substitution C A downstream_gene_variant LIRI-JP 12 42550903 42550903 single base substitution C A downstream_gene_variant LIRI-JP 12 42551922 42551922 single base substitution C T 3_prime_UTR_variant LIRI-JP 12 42551922 42551922 single base substitution C T downstream_gene_variant LIRI-JP 12 42552003 42552003 single base substitution T C 3_prime_UTR_variant LIRI-JP 12 42552003 42552003 single base substitution T C downstream_gene_variant LIRI-JP 12 42553466 42553466 single base substitution A G 3_prime_UTR_variant LIRI-JP 12 42553466 42553466 single base substitution A G downstream_gene_variant LIRI-JP 12 42554268 42554268 single base substitution T C 3_prime_UTR_variant LIRI-JP 12 42554268 42554268 single base substitution T C downstream_gene_variant LIRI-JP 12 42554268 42554268 single base substitution T C exon_variant LIRI-JP 12 42555843 42555843 single base substitution T C intron_variant LIRI-JP 12 42555843 42555843 single base substitution T C upstream_gene_variant LIRI-JP 12 42558661 42558661 single base substitution C A intron_variant LIRI-JP 12 42558661 42558661 single base substitution C A upstream_gene_variant LIRI-JP 12 42561178 42561178 single base substitution C G intron_variant LIRI-JP 12 42561903 42561903 single base substitution T C intron_variant LIRI-JP 12 42562211 42562211 single base substitution T C intron_variant LIRI-JP 12 42563201 42563201 single base substitution T C intron_variant LIRI-JP 12 42567557 42567557 single base substitution T A intron_variant LIRI-JP 12 42569903 42569903 single base substitution C T intron_variant LIRI-JP 12 42570096 42570096 single base substitution T C intron_variant LIRI-JP 12 42577705 42577705 single base substitution T C intron_variant LIRI-JP 12 42581021 42581021 single base substitution C T intron_variant LIRI-JP 12 42582019 42582019 single base substitution G A intron_variant LIRI-JP 12 42582371 42582371 single base substitution G A intron_variant LIRI-JP 12 42584311 42584311 single base substitution T C intron_variant LIRI-JP 12 42584471 42584471 single base substitution T C intron_variant LIRI-JP 12 42584959 42584959 single base substitution G T intron_variant LIRI-JP 12 42586034 42586034 single base substitution G C intron_variant LIRI-JP 12 42587014 42587014 single base substitution G A intron_variant LIRI-JP 12 42587630 42587630 single base substitution C A intron_variant LIRI-JP 12 42589708 42589708 single base substitution A T intron_variant LIRI-JP 12 42590322 42590322 single base substitution T C intron_variant LIRI-JP 12 42591747 42591747 single base substitution T C intron_variant LIRI-JP 12 42593908 42593908 single base substitution G A intron_variant LIRI-JP 12 42593908 42593908 single base substitution G A upstream_gene_variant LIRI-JP 12 42594959 42594959 single base substitution C T intron_variant LIRI-JP 12 42594959 42594959 single base substitution C T upstream_gene_variant LIRI-JP 12 42595750 42595750 single base substitution T C intron_variant LIRI-JP 12 42595750 42595750 single base substitution T C upstream_gene_variant LIRI-JP 12 42599105 42599105 single base substitution G A intron_variant LIRI-JP 12 42599839 42599839 single base substitution C G intron_variant LIRI-JP 12 42600921 42600921 single base substitution C T intron_variant LIRI-JP 12 42602160 42602160 single base substitution G A intron_variant LIRI-JP 12 42602641 42602641 single base substitution A T intron_variant LIRI-JP 12 42603547 42603547 single base substitution G A intron_variant LIRI-JP 12 42604283 42604283 single base substitution T C intron_variant LIRI-JP 12 42604321 42604321 single base substitution T A intron_variant LIRI-JP 12 42604658 42604658 single base substitution A T intron_variant LIRI-JP 12 42604658 42604658 single base substitution A T upstream_gene_variant LIRI-JP 12 42606392 42606392 single base substitution A G intron_variant LIRI-JP 12 42606392 42606392 single base substitution A G upstream_gene_variant LIRI-JP 12 42607918 42607918 single base substitution G A intron_variant LIRI-JP 12 42607918 42607918 single base substitution G A upstream_gene_variant LIRI-JP 12 42608415 42608415 single base substitution A G intron_variant LIRI-JP 12 42608415 42608415 single base substitution A G upstream_gene_variant LIRI-JP 12 42608739 42608739 single base substitution G C intron_variant LIRI-JP 12 42608739 42608739 single base substitution G C upstream_gene_variant LIRI-JP 12 42609166 42609166 single base substitution C A intron_variant LIRI-JP 12 42609166 42609166 single base substitution C A upstream_gene_variant LIRI-JP 12 42614381 42614381 single base substitution A G intron_variant LIRI-JP 12 42614777 42614777 single base substitution T C intron_variant LIRI-JP 12 42615610 42615610 single base substitution G A intron_variant LIRI-JP 12 42616550 42616550 single base substitution T C intron_variant LIRI-JP 12 42617167 42617167 single base substitution C T intron_variant LIRI-JP 12 42618264 42618264 single base substitution T C intron_variant LIRI-JP 12 42619374 42619374 single base substitution A C intron_variant LIRI-JP 12 42624403 42624403 single base substitution A G downstream_gene_variant LIRI-JP 12 42624403 42624403 single base substitution A G intron_variant LIRI-JP 12 42624414 42624414 single base substitution A G downstream_gene_variant LIRI-JP 12 42624414 42624414 single base substitution A G intron_variant LIRI-JP 12 42628048 42628053 deletion of <=200bp AGATAT - 3_prime_UTR_variant LIRI-JP 12 42628048 42628053 deletion of <=200bp AGATAT - downstream_gene_variant LIRI-JP 12 42628048 42628053 deletion of <=200bp AGATAT - exon_variant LIRI-JP 12 42628048 42628053 deletion of <=200bp AGATAT - intron_variant LIRI-JP 12 42628601 42628601 single base substitution G T 3_prime_UTR_variant LIRI-JP 12 42628601 42628601 single base substitution G T downstream_gene_variant LIRI-JP 12 42628601 42628601 single base substitution G T exon_variant LIRI-JP 12 42628601 42628601 single base substitution G T intron_variant LIRI-JP 12 42630427 42630427 single base substitution T C intron_variant LIRI-JP 12 42631098 42631098 deletion of <=200bp C - intron_variant LIRI-JP 12 42633829 42633829 single base substitution A G upstream_gene_variant LIRI-JP 12 42635090 42635090 single base substitution C T upstream_gene_variant LIRI-JP 12 42636986 42636986 single base substitution G A upstream_gene_variant LUSC-KR 12 42547886 42547886 single base substitution T G downstream_gene_variant LUSC-KR 12 42550047 42550047 single base substitution C A downstream_gene_variant LUSC-KR 12 42550602 42550602 single base substitution T A downstream_gene_variant LUSC-KR 12 42551277 42551277 single base substitution G A 3_prime_UTR_variant LUSC-KR 12 42551277 42551277 single base substitution G A downstream_gene_variant LUSC-KR 12 42551479 42551479 single base substitution G C 3_prime_UTR_variant LUSC-KR 12 42551479 42551479 single base substitution G C downstream_gene_variant LUSC-KR 12 42553219 42553219 single base substitution T C 3_prime_UTR_variant LUSC-KR 12 42553219 42553219 single base substitution T C downstream_gene_variant LUSC-KR 12 42554505 42554505 single base substitution A G 3_prime_UTR_variant LUSC-KR 12 42554505 42554505 single base substitution A G downstream_gene_variant LUSC-KR 12 42554505 42554505 single base substitution A G exon_variant LUSC-KR 12 42554505 42554505 single base substitution A G synonymous_variant A101A 303T>C LUSC-KR 12 42554505 42554505 single base substitution A G synonymous_variant A119A 357T>C LUSC-KR 12 42554505 42554505 single base substitution A G synonymous_variant A134A 402T>C LUSC-KR 12 42554505 42554505 single base substitution A G synonymous_variant A143A 429T>C LUSC-KR 12 42554505 42554505 single base substitution A G synonymous_variant A167A 501T>C LUSC-KR 12 42557233 42557233 single base substitution G A intron_variant LUSC-KR 12 42557233 42557233 single base substitution G A upstream_gene_variant LUSC-KR 12 42558395 42558395 single base substitution C A intron_variant LUSC-KR 12 42558395 42558395 single base substitution C A upstream_gene_variant LUSC-KR 12 42559972 42559972 single base substitution C A intron_variant LUSC-KR 12 42559972 42559972 single base substitution C A upstream_gene_variant LUSC-KR 12 42563013 42563013 single base substitution C A intron_variant LUSC-KR 12 42568402 42568402 single base substitution C G intron_variant LUSC-KR 12 42572313 42572313 single base substitution C G intron_variant LUSC-KR 12 42578185 42578185 single base substitution C G intron_variant LUSC-KR 12 42582558 42582558 single base substitution T C intron_variant LUSC-KR 12 42585666 42585666 single base substitution G T intron_variant LUSC-KR 12 42591032 42591032 single base substitution C A intron_variant LUSC-KR 12 42597929 42597929 single base substitution G C intron_variant LUSC-KR 12 42597929 42597929 single base substitution G C upstream_gene_variant LUSC-KR 12 42602245 42602245 single base substitution A C intron_variant LUSC-KR 12 42603882 42603882 single base substitution G C intron_variant LUSC-KR 12 42609171 42609171 single base substitution C A intron_variant LUSC-KR 12 42609171 42609171 single base substitution C A upstream_gene_variant LUSC-KR 12 42610115 42610115 single base substitution C A intron_variant LUSC-KR 12 42614030 42614030 single base substitution G A intron_variant LUSC-KR 12 42614624 42614624 single base substitution C A intron_variant LUSC-KR 12 42615037 42615037 single base substitution C G intron_variant LUSC-KR 12 42616449 42616449 single base substitution T A intron_variant LUSC-KR 12 42616538 42616538 single base substitution C A intron_variant LUSC-KR 12 42616539 42616539 single base substitution C A intron_variant LUSC-KR 12 42616587 42616587 single base substitution T C intron_variant LUSC-KR 12 42621842 42621842 single base substitution C T downstream_gene_variant LUSC-KR 12 42621842 42621842 single base substitution C T intron_variant LUSC-KR 12 42621859 42621859 single base substitution T C downstream_gene_variant LUSC-KR 12 42621859 42621859 single base substitution T C intron_variant LUSC-KR 12 42622020 42622020 single base substitution G A downstream_gene_variant LUSC-KR 12 42622020 42622020 single base substitution G A intron_variant LUSC-KR 12 42622398 42622398 single base substitution A C downstream_gene_variant LUSC-KR 12 42622398 42622398 single base substitution A C intron_variant LUSC-KR 12 42622419 42622419 single base substitution A G downstream_gene_variant LUSC-KR 12 42622419 42622419 single base substitution A G intron_variant LUSC-KR 12 42622531 42622531 single base substitution C T downstream_gene_variant LUSC-KR 12 42622531 42622531 single base substitution C T intron_variant LUSC-KR 12 42622815 42622815 single base substitution G C downstream_gene_variant LUSC-KR 12 42622815 42622815 single base substitution G C intron_variant LUSC-KR 12 42623023 42623023 single base substitution G C downstream_gene_variant LUSC-KR 12 42623023 42623023 single base substitution G C intron_variant LUSC-KR 12 42623669 42623669 single base substitution C G downstream_gene_variant LUSC-KR 12 42623669 42623669 single base substitution C G intron_variant LUSC-KR 12 42623783 42623783 single base substitution C A downstream_gene_variant LUSC-KR 12 42623783 42623783 single base substitution C A intron_variant LUSC-KR 12 42624246 42624246 single base substitution C G downstream_gene_variant LUSC-KR 12 42624246 42624246 single base substitution C G intron_variant LUSC-KR 12 42629061 42629061 single base substitution G C 3_prime_UTR_variant LUSC-KR 12 42629061 42629061 single base substitution G C downstream_gene_variant LUSC-KR 12 42629061 42629061 single base substitution G C exon_variant LUSC-KR 12 42629061 42629061 single base substitution G C intron_variant LUSC-KR 12 42632776 42632776 single base substitution G C upstream_gene_variant LUSC-KR 12 42636422 42636422 single base substitution G C upstream_gene_variant LUSC-US 12 42554479 42554479 single base substitution C A 3_prime_UTR_variant LUSC-US 12 42554479 42554479 single base substitution C A downstream_gene_variant LUSC-US 12 42554479 42554479 single base substitution C A exon_variant LUSC-US 12 42554479 42554479 single base substitution C A missense_variant G110V 329G>T LUSC-US 12 42554479 42554479 single base substitution C A missense_variant G128V 383G>T LUSC-US 12 42554479 42554479 single base substitution C A missense_variant G143V 428G>T LUSC-US 12 42554479 42554479 single base substitution C A missense_variant G152V 455G>T LUSC-US 12 42554479 42554479 single base substitution C A missense_variant G176V 527G>T LUSC-US 12 42554480 42554480 single base substitution C T 3_prime_UTR_variant LUSC-US 12 42554480 42554480 single base substitution C T downstream_gene_variant LUSC-US 12 42554480 42554480 single base substitution C T exon_variant LUSC-US 12 42554480 42554480 single base substitution C T missense_variant G110S 328G>A LUSC-US 12 42554480 42554480 single base substitution C T missense_variant G128S 382G>A LUSC-US 12 42554480 42554480 single base substitution C T missense_variant G143S 427G>A LUSC-US 12 42554480 42554480 single base substitution C T missense_variant G152S 454G>A LUSC-US 12 42554480 42554480 single base substitution C T missense_variant G176S 526G>A LUSC-US 12 42554536 42554536 single base substitution T A 3_prime_UTR_variant LUSC-US 12 42554536 42554536 single base substitution T A downstream_gene_variant LUSC-US 12 42554536 42554536 single base substitution T A exon_variant LUSC-US 12 42554536 42554536 single base substitution T A missense_variant K109I 326A>T LUSC-US 12 42554536 42554536 single base substitution T A missense_variant K124I 371A>T LUSC-US 12 42554536 42554536 single base substitution T A missense_variant K133I 398A>T LUSC-US 12 42554536 42554536 single base substitution T A missense_variant K157I 470A>T LUSC-US 12 42554536 42554536 single base substitution T A missense_variant K91I 272A>T MALY-DE 12 42547475 42547475 single base substitution C T downstream_gene_variant MALY-DE 12 42554466 42554466 single base substitution A G 3_prime_UTR_variant MALY-DE 12 42554466 42554466 single base substitution A G downstream_gene_variant MALY-DE 12 42554466 42554466 single base substitution A G exon_variant MALY-DE 12 42554466 42554466 single base substitution A G synonymous_variant D114D 342T>C MALY-DE 12 42554466 42554466 single base substitution A G synonymous_variant D132D 396T>C MALY-DE 12 42554466 42554466 single base substitution A G synonymous_variant D147D 441T>C MALY-DE 12 42554466 42554466 single base substitution A G synonymous_variant D156D 468T>C MALY-DE 12 42554466 42554466 single base substitution A G synonymous_variant D180D 540T>C MALY-DE 12 42556904 42556904 insertion of <=200bp - GCCTTGAAGTA intron_variant MALY-DE 12 42556904 42556904 insertion of <=200bp - GCCTTGAAGTA upstream_gene_variant MALY-DE 12 42557866 42557866 single base substitution C T intron_variant MALY-DE 12 42557866 42557866 single base substitution C T upstream_gene_variant MALY-DE 12 42577309 42577309 single base substitution A G intron_variant MALY-DE 12 42582668 42582668 single base substitution A G intron_variant MALY-DE 12 42593072 42593072 single base substitution T G exon_variant MALY-DE 12 42593072 42593072 single base substitution T G intron_variant MALY-DE 12 42594001 42594001 single base substitution T C intron_variant MALY-DE 12 42594001 42594001 single base substitution T C upstream_gene_variant MALY-DE 12 42597008 42597008 single base substitution C T intron_variant MALY-DE 12 42597008 42597008 single base substitution C T upstream_gene_variant MALY-DE 12 42598955 42598955 insertion of <=200bp - A intron_variant MALY-DE 12 42618377 42618377 single base substitution T C intron_variant MALY-DE 12 42632276 42632276 insertion of <=200bp - GGTGGCCGCGGTGGCCGC upstream_gene_variant MELA-AU 12 42546134 42546134 single base substitution G A downstream_gene_variant MELA-AU 12 42546245 42546245 single base substitution G A downstream_gene_variant MELA-AU 12 42546308 42546308 single base substitution G A downstream_gene_variant MELA-AU 12 42546393 42546393 single base substitution G A downstream_gene_variant MELA-AU 12 42546719 42546719 single base substitution C T downstream_gene_variant MELA-AU 12 42546766 42546766 single base substitution G A downstream_gene_variant MELA-AU 12 42547237 42547237 single base substitution G A downstream_gene_variant MELA-AU 12 42547721 42547721 single base substitution A C downstream_gene_variant MELA-AU 12 42547779 42547779 single base substitution G A downstream_gene_variant MELA-AU 12 42548293 42548294 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 12 42548775 42548775 single base substitution G A downstream_gene_variant MELA-AU 12 42548832 42548832 single base substitution G A downstream_gene_variant MELA-AU 12 42549250 42549250 single base substitution G A downstream_gene_variant MELA-AU 12 42550003 42550003 single base substitution G A downstream_gene_variant MELA-AU 12 42550561 42550561 single base substitution C G downstream_gene_variant MELA-AU 12 42552526 42552526 single base substitution G A 3_prime_UTR_variant MELA-AU 12 42552526 42552526 single base substitution G A downstream_gene_variant MELA-AU 12 42553489 42553489 single base substitution G A 3_prime_UTR_variant MELA-AU 12 42553489 42553489 single base substitution G A downstream_gene_variant MELA-AU 12 42554645 42554645 single base substitution G A downstream_gene_variant MELA-AU 12 42554645 42554645 single base substitution G A exon_variant MELA-AU 12 42554645 42554645 single base substitution G A intron_variant MELA-AU 12 42555307 42555307 single base substitution G A downstream_gene_variant MELA-AU 12 42555307 42555307 single base substitution G A exon_variant MELA-AU 12 42555307 42555307 single base substitution G A intron_variant MELA-AU 12 42555550 42555550 single base substitution G A 3_prime_UTR_variant MELA-AU 12 42555550 42555550 single base substitution G A downstream_gene_variant MELA-AU 12 42555550 42555550 single base substitution G A exon_variant MELA-AU 12 42555550 42555550 single base substitution G A intron_variant MELA-AU 12 42555550 42555550 single base substitution G A missense_variant S15F 44C>T MELA-AU 12 42555550 42555550 single base substitution G A missense_variant S18F 53C>T MELA-AU 12 42555550 42555550 single base substitution G A missense_variant S48F 143C>T MELA-AU 12 42555550 42555550 single base substitution G A missense_variant S57F 170C>T MELA-AU 12 42555550 42555550 single base substitution G A missense_variant S81F 242C>T MELA-AU 12 42555550 42555550 single base substitution G A upstream_gene_variant MELA-AU 12 42555938 42555938 single base substitution C T intron_variant MELA-AU 12 42555938 42555938 single base substitution C T upstream_gene_variant MELA-AU 12 42556403 42556403 single base substitution G A intron_variant MELA-AU 12 42556403 42556403 single base substitution G A upstream_gene_variant MELA-AU 12 42556611 42556611 single base substitution G A intron_variant MELA-AU 12 42556611 42556611 single base substitution G A upstream_gene_variant MELA-AU 12 42557505 42557505 single base substitution G A intron_variant MELA-AU 12 42557505 42557505 single base substitution G A upstream_gene_variant MELA-AU 12 42557783 42557783 single base substitution G A intron_variant MELA-AU 12 42557783 42557783 single base substitution G A upstream_gene_variant MELA-AU 12 42558752 42558752 single base substitution G A intron_variant MELA-AU 12 42558752 42558752 single base substitution G A upstream_gene_variant MELA-AU 12 42558784 42558784 single base substitution G A intron_variant MELA-AU 12 42558784 42558784 single base substitution G A upstream_gene_variant MELA-AU 12 42559123 42559123 single base substitution G A intron_variant MELA-AU 12 42559123 42559123 single base substitution G A upstream_gene_variant MELA-AU 12 42559247 42559247 single base substitution G A intron_variant MELA-AU 12 42559247 42559247 single base substitution G A upstream_gene_variant MELA-AU 12 42559465 42559465 single base substitution G A intron_variant MELA-AU 12 42559465 42559465 single base substitution G A upstream_gene_variant MELA-AU 12 42559564 42559564 single base substitution C T intron_variant MELA-AU 12 42559564 42559564 single base substitution C T upstream_gene_variant MELA-AU 12 42560096 42560096 single base substitution A G intron_variant MELA-AU 12 42560096 42560096 single base substitution A G upstream_gene_variant MELA-AU 12 42561162 42561162 single base substitution G A intron_variant MELA-AU 12 42561321 42561321 single base substitution G A intron_variant MELA-AU 12 42561665 42561665 single base substitution A G intron_variant MELA-AU 12 42563260 42563261 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 42563584 42563584 single base substitution G A intron_variant MELA-AU 12 42563637 42563637 single base substitution T C intron_variant MELA-AU 12 42564714 42564714 single base substitution C T intron_variant MELA-AU 12 42564930 42564930 single base substitution G A intron_variant MELA-AU 12 42565556 42565556 single base substitution G T intron_variant MELA-AU 12 42565577 42565577 single base substitution G A intron_variant MELA-AU 12 42565904 42565904 single base substitution T G intron_variant MELA-AU 12 42565910 42565910 single base substitution G A intron_variant MELA-AU 12 42566193 42566193 single base substitution A G intron_variant MELA-AU 12 42566411 42566411 single base substitution G A intron_variant MELA-AU 12 42567320 42567320 single base substitution C T intron_variant MELA-AU 12 42567326 42567326 single base substitution G T intron_variant MELA-AU 12 42567458 42567458 single base substitution C A intron_variant MELA-AU 12 42567496 42567496 single base substitution G A intron_variant MELA-AU 12 42567775 42567775 single base substitution G A intron_variant MELA-AU 12 42568204 42568204 single base substitution G A intron_variant MELA-AU 12 42568312 42568312 single base substitution G A intron_variant MELA-AU 12 42568572 42568572 single base substitution G A intron_variant MELA-AU 12 42568657 42568657 single base substitution A C intron_variant MELA-AU 12 42569186 42569186 single base substitution G A intron_variant MELA-AU 12 42569187 42569187 single base substitution A T intron_variant MELA-AU 12 42569484 42569484 single base substitution C T intron_variant MELA-AU 12 42570585 42570585 single base substitution G A intron_variant MELA-AU 12 42570763 42570763 single base substitution C T intron_variant MELA-AU 12 42571406 42571406 single base substitution G A intron_variant MELA-AU 12 42572057 42572057 single base substitution G A intron_variant MELA-AU 12 42573980 42573980 single base substitution G A intron_variant MELA-AU 12 42574210 42574210 single base substitution G A intron_variant MELA-AU 12 42577197 42577197 single base substitution G A intron_variant MELA-AU 12 42577659 42577659 single base substitution G A intron_variant MELA-AU 12 42577675 42577675 single base substitution G A intron_variant MELA-AU 12 42577676 42577676 single base substitution G A intron_variant MELA-AU 12 42577774 42577774 single base substitution T A intron_variant MELA-AU 12 42578697 42578697 single base substitution G A intron_variant MELA-AU 12 42579130 42579130 single base substitution G A intron_variant MELA-AU 12 42580485 42580485 single base substitution G A intron_variant MELA-AU 12 42581654 42581654 single base substitution G A intron_variant MELA-AU 12 42583299 42583299 single base substitution G A intron_variant MELA-AU 12 42584793 42584793 single base substitution G A intron_variant MELA-AU 12 42585049 42585049 deletion of <=200bp T - intron_variant MELA-AU 12 42585294 42585294 single base substitution T G intron_variant MELA-AU 12 42586078 42586079 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 42587285 42587285 single base substitution G A intron_variant MELA-AU 12 42588127 42588127 single base substitution C T intron_variant MELA-AU 12 42588949 42588949 single base substitution G A intron_variant MELA-AU 12 42589280 42589280 single base substitution A T intron_variant MELA-AU 12 42589343 42589343 single base substitution G A intron_variant MELA-AU 12 42590527 42590527 single base substitution G A intron_variant MELA-AU 12 42590620 42590620 single base substitution G A intron_variant MELA-AU 12 42590696 42590696 single base substitution T C intron_variant MELA-AU 12 42590889 42590889 single base substitution G A intron_variant MELA-AU 12 42591345 42591361 deletion of <=200bp ATAATATGTATGCCCAG - intron_variant MELA-AU 12 42591361 42591361 single base substitution G A intron_variant MELA-AU 12 42592007 42592007 single base substitution G A intron_variant MELA-AU 12 42592472 42592472 single base substitution G A intron_variant MELA-AU 12 42593451 42593471 deletion of <=200bp AAAATGTGGTTTTAGGGAATT - intron_variant MELA-AU 12 42593451 42593471 deletion of <=200bp AAAATGTGGTTTTAGGGAATT - upstream_gene_variant MELA-AU 12 42594585 42594585 single base substitution T C intron_variant MELA-AU 12 42594585 42594585 single base substitution T C upstream_gene_variant MELA-AU 12 42594982 42594982 single base substitution G A intron_variant MELA-AU 12 42594982 42594982 single base substitution G A upstream_gene_variant MELA-AU 12 42595368 42595369 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 42595368 42595369 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 12 42595623 42595623 single base substitution C T intron_variant MELA-AU 12 42595623 42595623 single base substitution C T upstream_gene_variant MELA-AU 12 42595663 42595663 single base substitution C A intron_variant MELA-AU 12 42595663 42595663 single base substitution C A upstream_gene_variant MELA-AU 12 42595794 42595794 single base substitution C T intron_variant MELA-AU 12 42595794 42595794 single base substitution C T upstream_gene_variant MELA-AU 12 42598006 42598006 single base substitution G A intron_variant MELA-AU 12 42598006 42598006 single base substitution G A upstream_gene_variant MELA-AU 12 42598064 42598064 single base substitution A T intron_variant MELA-AU 12 42598064 42598064 single base substitution A T upstream_gene_variant MELA-AU 12 42598070 42598070 single base substitution G A intron_variant MELA-AU 12 42598070 42598070 single base substitution G A upstream_gene_variant MELA-AU 12 42598100 42598100 single base substitution C T intron_variant MELA-AU 12 42598100 42598100 single base substitution C T upstream_gene_variant MELA-AU 12 42598988 42598988 single base substitution T C intron_variant MELA-AU 12 42599753 42599753 single base substitution C T intron_variant MELA-AU 12 42601377 42601377 single base substitution G A intron_variant MELA-AU 12 42601393 42601393 single base substitution T C intron_variant MELA-AU 12 42601471 42601471 single base substitution G A intron_variant MELA-AU 12 42601507 42601507 single base substitution A G intron_variant MELA-AU 12 42602674 42602674 single base substitution G A intron_variant MELA-AU 12 42603726 42603726 single base substitution G A intron_variant MELA-AU 12 42603806 42603806 single base substitution G A intron_variant MELA-AU 12 42603820 42603820 single base substitution G A intron_variant MELA-AU 12 42605152 42605152 single base substitution C T intron_variant MELA-AU 12 42605152 42605152 single base substitution C T upstream_gene_variant MELA-AU 12 42605242 42605242 single base substitution A T intron_variant MELA-AU 12 42605242 42605242 single base substitution A T upstream_gene_variant MELA-AU 12 42605711 42605711 single base substitution T A intron_variant MELA-AU 12 42605711 42605711 single base substitution T A upstream_gene_variant MELA-AU 12 42606035 42606035 single base substitution G A intron_variant MELA-AU 12 42606035 42606035 single base substitution G A upstream_gene_variant MELA-AU 12 42608407 42608407 single base substitution A T intron_variant MELA-AU 12 42608407 42608407 single base substitution A T upstream_gene_variant MELA-AU 12 42608604 42608604 single base substitution G A intron_variant MELA-AU 12 42608604 42608604 single base substitution G A upstream_gene_variant MELA-AU 12 42609017 42609017 single base substitution C T intron_variant MELA-AU 12 42609017 42609017 single base substitution C T upstream_gene_variant MELA-AU 12 42609135 42609136 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 42609135 42609136 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 12 42609747 42609747 single base substitution A G intron_variant MELA-AU 12 42609763 42609763 single base substitution A G intron_variant MELA-AU 12 42609861 42609861 single base substitution A T intron_variant MELA-AU 12 42610027 42610027 single base substitution A G intron_variant MELA-AU 12 42610175 42610175 single base substitution G A intron_variant MELA-AU 12 42611777 42611777 single base substitution G A intron_variant MELA-AU 12 42613057 42613057 single base substitution G A intron_variant MELA-AU 12 42614966 42614966 single base substitution G A intron_variant MELA-AU 12 42615152 42615152 single base substitution G A intron_variant MELA-AU 12 42616012 42616012 single base substitution G A intron_variant MELA-AU 12 42616421 42616421 single base substitution G A intron_variant MELA-AU 12 42616533 42616533 single base substitution G A intron_variant MELA-AU 12 42616555 42616555 single base substitution G A intron_variant MELA-AU 12 42617036 42617036 single base substitution A G intron_variant MELA-AU 12 42617257 42617257 single base substitution G A intron_variant MELA-AU 12 42618050 42618050 single base substitution A T intron_variant MELA-AU 12 42618327 42618327 single base substitution C T intron_variant MELA-AU 12 42619074 42619074 single base substitution G A intron_variant MELA-AU 12 42619297 42619297 single base substitution G A intron_variant MELA-AU 12 42619371 42619372 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 42619372 42619372 single base substitution G A intron_variant MELA-AU 12 42619683 42619683 single base substitution G A intron_variant MELA-AU 12 42619944 42619944 single base substitution G A intron_variant MELA-AU 12 42621541 42621541 single base substitution G A downstream_gene_variant MELA-AU 12 42621541 42621541 single base substitution G A intron_variant MELA-AU 12 42621765 42621765 single base substitution G A downstream_gene_variant MELA-AU 12 42621765 42621765 single base substitution G A intron_variant MELA-AU 12 42621987 42621987 single base substitution C T downstream_gene_variant MELA-AU 12 42621987 42621987 single base substitution C T intron_variant MELA-AU 12 42621994 42621994 single base substitution G A downstream_gene_variant MELA-AU 12 42621994 42621994 single base substitution G A intron_variant MELA-AU 12 42622092 42622092 single base substitution G A downstream_gene_variant MELA-AU 12 42622092 42622092 single base substitution G A intron_variant MELA-AU 12 42623333 42623333 single base substitution C T downstream_gene_variant MELA-AU 12 42623333 42623333 single base substitution C T intron_variant MELA-AU 12 42623351 42623351 single base substitution A T downstream_gene_variant MELA-AU 12 42623351 42623351 single base substitution A T intron_variant MELA-AU 12 42624784 42624784 single base substitution G A downstream_gene_variant MELA-AU 12 42624784 42624784 single base substitution G A intron_variant MELA-AU 12 42624893 42624893 single base substitution C T downstream_gene_variant MELA-AU 12 42624893 42624893 single base substitution C T intron_variant MELA-AU 12 42625339 42625339 single base substitution G A 3_prime_UTR_variant MELA-AU 12 42625339 42625339 single base substitution G A downstream_gene_variant MELA-AU 12 42625339 42625339 single base substitution G A exon_variant MELA-AU 12 42625339 42625339 single base substitution G A intron_variant MELA-AU 12 42625477 42625477 single base substitution G A 3_prime_UTR_variant MELA-AU 12 42625477 42625477 single base substitution G A downstream_gene_variant MELA-AU 12 42625477 42625477 single base substitution G A exon_variant MELA-AU 12 42625477 42625477 single base substitution G A intron_variant MELA-AU 12 42625480 42625480 single base substitution G A 3_prime_UTR_variant MELA-AU 12 42625480 42625480 single base substitution G A downstream_gene_variant MELA-AU 12 42625480 42625480 single base substitution G A exon_variant MELA-AU 12 42625480 42625480 single base substitution G A intron_variant MELA-AU 12 42625742 42625742 single base substitution G A 3_prime_UTR_variant MELA-AU 12 42625742 42625742 single base substitution G A downstream_gene_variant MELA-AU 12 42625742 42625742 single base substitution G A exon_variant MELA-AU 12 42625742 42625742 single base substitution G A intron_variant MELA-AU 12 42625834 42625834 single base substitution A G 3_prime_UTR_variant MELA-AU 12 42625834 42625834 single base substitution A G downstream_gene_variant MELA-AU 12 42625834 42625834 single base substitution A G exon_variant MELA-AU 12 42625834 42625834 single base substitution A G intron_variant MELA-AU 12 42625848 42625848 single base substitution G A 3_prime_UTR_variant MELA-AU 12 42625848 42625848 single base substitution G A downstream_gene_variant MELA-AU 12 42625848 42625848 single base substitution G A exon_variant MELA-AU 12 42625848 42625848 single base substitution G A intron_variant MELA-AU 12 42626179 42626179 single base substitution G A 3_prime_UTR_variant MELA-AU 12 42626179 42626179 single base substitution G A downstream_gene_variant MELA-AU 12 42626179 42626179 single base substitution G A exon_variant MELA-AU 12 42626179 42626179 single base substitution G A intron_variant MELA-AU 12 42626580 42626580 single base substitution C T 3_prime_UTR_variant MELA-AU 12 42626580 42626580 single base substitution C T downstream_gene_variant MELA-AU 12 42626580 42626580 single base substitution C T exon_variant MELA-AU 12 42626580 42626580 single base substitution C T intron_variant MELA-AU 12 42628177 42628177 single base substitution G A 3_prime_UTR_variant MELA-AU 12 42628177 42628177 single base substitution G A downstream_gene_variant MELA-AU 12 42628177 42628177 single base substitution G A exon_variant MELA-AU 12 42628177 42628177 single base substitution G A intron_variant MELA-AU 12 42628503 42628503 single base substitution T G 3_prime_UTR_variant MELA-AU 12 42628503 42628503 single base substitution T G downstream_gene_variant MELA-AU 12 42628503 42628503 single base substitution T G exon_variant MELA-AU 12 42628503 42628503 single base substitution T G intron_variant MELA-AU 12 42628741 42628741 single base substitution G A 3_prime_UTR_variant MELA-AU 12 42628741 42628741 single base substitution G A downstream_gene_variant MELA-AU 12 42628741 42628741 single base substitution G A exon_variant MELA-AU 12 42628741 42628741 single base substitution G A intron_variant MELA-AU 12 42630054 42630054 insertion of <=200bp - T intron_variant MELA-AU 12 42630214 42630214 single base substitution G A intron_variant MELA-AU 12 42631467 42631467 single base substitution G A 5_prime_UTR_variant MELA-AU 12 42631467 42631467 single base substitution G A exon_variant MELA-AU 12 42631467 42631467 single base substitution G A intron_variant MELA-AU 12 42631467 42631467 single base substitution G A missense_variant T29I 86C>T MELA-AU 12 42631467 42631467 single base substitution G A upstream_gene_variant MELA-AU 12 42633575 42633576 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 12 42634031 42634031 single base substitution C T upstream_gene_variant MELA-AU 12 42634072 42634072 single base substitution C T upstream_gene_variant MELA-AU 12 42634294 42634294 single base substitution C T upstream_gene_variant MELA-AU 12 42634357 42634357 single base substitution C T upstream_gene_variant MELA-AU 12 42634499 42634499 single base substitution G A upstream_gene_variant MELA-AU 12 42635133 42635133 single base substitution C G upstream_gene_variant MELA-AU 12 42635203 42635203 single base substitution C G upstream_gene_variant MELA-AU 12 42636411 42636411 single base substitution C T upstream_gene_variant MELA-AU 12 42636694 42636694 single base substitution C T upstream_gene_variant MELA-AU 12 42637053 42637053 single base substitution G A upstream_gene_variant ORCA-IN 12 42631517 42631517 single base substitution C A 5_prime_UTR_variant ORCA-IN 12 42631517 42631517 single base substitution C A exon_variant ORCA-IN 12 42631517 42631517 single base substitution C A intron_variant ORCA-IN 12 42631517 42631517 single base substitution C A synonymous_variant R12R 36G>T ORCA-IN 12 42631517 42631517 single base substitution C A upstream_gene_variant OV-AU 12 42548112 42548112 single base substitution A T downstream_gene_variant OV-AU 12 42552306 42552306 single base substitution C A 3_prime_UTR_variant OV-AU 12 42552306 42552306 single base substitution C A downstream_gene_variant OV-AU 12 42552978 42552978 single base substitution A T 3_prime_UTR_variant OV-AU 12 42552978 42552978 single base substitution A T downstream_gene_variant OV-AU 12 42555748 42555748 single base substitution C A intron_variant OV-AU 12 42555748 42555748 single base substitution C A upstream_gene_variant OV-AU 12 42559013 42559013 single base substitution T A intron_variant OV-AU 12 42559013 42559013 single base substitution T A upstream_gene_variant OV-AU 12 42561551 42561551 single base substitution T C intron_variant OV-AU 12 42569679 42569679 single base substitution A T intron_variant OV-AU 12 42576768 42576768 single base substitution C T intron_variant OV-AU 12 42596548 42596548 single base substitution C G intron_variant OV-AU 12 42596548 42596548 single base substitution C G upstream_gene_variant OV-AU 12 42600778 42600778 single base substitution C T intron_variant OV-AU 12 42603264 42603264 single base substitution G T intron_variant OV-AU 12 42603878 42603878 single base substitution G C intron_variant OV-AU 12 42609391 42609391 single base substitution C A intron_variant OV-AU 12 42609391 42609391 single base substitution C A upstream_gene_variant OV-AU 12 42609617 42609617 single base substitution G C intron_variant OV-AU 12 42609617 42609617 single base substitution G C upstream_gene_variant OV-AU 12 42612790 42612790 single base substitution G T intron_variant OV-AU 12 42615102 42615102 single base substitution T C intron_variant OV-AU 12 42615823 42615823 single base substitution C T intron_variant OV-AU 12 42616788 42616788 single base substitution G C intron_variant OV-AU 12 42616857 42616857 single base substitution A G intron_variant OV-AU 12 42618865 42618865 single base substitution G A intron_variant OV-AU 12 42629903 42629903 single base substitution C G intron_variant PACA-AU 12 42555823 42555823 single base substitution C T intron_variant PACA-AU 12 42555823 42555823 single base substitution C T upstream_gene_variant PACA-AU 12 42558646 42558646 single base substitution C T intron_variant PACA-AU 12 42558646 42558646 single base substitution C T upstream_gene_variant PACA-AU 12 42560635 42560635 single base substitution A T intron_variant PACA-AU 12 42561197 42561197 single base substitution G A intron_variant PACA-AU 12 42567496 42567496 single base substitution G A intron_variant PACA-AU 12 42569056 42569056 deletion of <=200bp A - intron_variant PACA-AU 12 42570552 42570552 single base substitution T C intron_variant PACA-AU 12 42571973 42571973 single base substitution G C intron_variant PACA-AU 12 42573503 42573503 single base substitution T G intron_variant PACA-AU 12 42574535 42574535 single base substitution G A intron_variant PACA-AU 12 42576520 42576520 single base substitution A C intron_variant PACA-AU 12 42578435 42578435 single base substitution T C intron_variant PACA-AU 12 42579007 42579007 single base substitution A C intron_variant PACA-AU 12 42579469 42579469 single base substitution G A intron_variant PACA-AU 12 42590672 42590672 single base substitution C A intron_variant PACA-AU 12 42591860 42591860 single base substitution A G intron_variant PACA-AU 12 42595931 42595931 single base substitution C T intron_variant PACA-AU 12 42595931 42595931 single base substitution C T upstream_gene_variant PACA-AU 12 42602378 42602378 single base substitution G C intron_variant PACA-AU 12 42609730 42609730 insertion of <=200bp - AAAT intron_variant PACA-AU 12 42609770 42609770 single base substitution A G intron_variant PACA-AU 12 42621606 42621606 single base substitution C T downstream_gene_variant PACA-AU 12 42621606 42621606 single base substitution C T intron_variant PACA-AU 12 42623589 42623589 single base substitution C G downstream_gene_variant PACA-AU 12 42623589 42623589 single base substitution C G intron_variant PACA-AU 12 42626714 42626714 single base substitution A G 3_prime_UTR_variant PACA-AU 12 42626714 42626714 single base substitution A G downstream_gene_variant PACA-AU 12 42626714 42626714 single base substitution A G exon_variant PACA-AU 12 42626714 42626714 single base substitution A G intron_variant PACA-AU 12 42626825 42626825 single base substitution T A 3_prime_UTR_variant PACA-AU 12 42626825 42626825 single base substitution T A downstream_gene_variant PACA-AU 12 42626825 42626825 single base substitution T A exon_variant PACA-AU 12 42626825 42626825 single base substitution T A intron_variant PACA-AU 12 42630953 42630965 deletion of <=200bp GTTTTAATATATT - intron_variant PACA-AU 12 42631132 42631132 single base substitution T A intron_variant PACA-AU 12 42633685 42633685 single base substitution G T upstream_gene_variant PACA-AU 12 42636400 42636400 single base substitution G A upstream_gene_variant PACA-AU 12 42637056 42637056 single base substitution G A upstream_gene_variant PACA-CA 12 42546478 42546478 single base substitution A G downstream_gene_variant PACA-CA 12 42547168 42547168 single base substitution C A downstream_gene_variant PACA-CA 12 42547442 42547442 single base substitution A C downstream_gene_variant PACA-CA 12 42547793 42547793 single base substitution T A downstream_gene_variant PACA-CA 12 42554066 42554066 single base substitution C T 3_prime_UTR_variant PACA-CA 12 42554066 42554066 single base substitution C T downstream_gene_variant PACA-CA 12 42554066 42554066 single base substitution C T exon_variant PACA-CA 12 42554130 42554130 single base substitution A G 3_prime_UTR_variant PACA-CA 12 42554130 42554130 single base substitution A G downstream_gene_variant PACA-CA 12 42554130 42554130 single base substitution A G exon_variant PACA-CA 12 42558544 42558544 single base substitution C A intron_variant PACA-CA 12 42558544 42558544 single base substitution C A upstream_gene_variant PACA-CA 12 42558877 42558877 single base substitution A G intron_variant PACA-CA 12 42558877 42558877 single base substitution A G upstream_gene_variant PACA-CA 12 42559484 42559484 single base substitution A T intron_variant PACA-CA 12 42559484 42559484 single base substitution A T upstream_gene_variant PACA-CA 12 42570481 42570481 single base substitution C T intron_variant PACA-CA 12 42570629 42570629 single base substitution C T intron_variant PACA-CA 12 42572287 42572296 deletion of <=200bp CTTATCTACT - intron_variant PACA-CA 12 42574985 42574985 single base substitution A G intron_variant PACA-CA 12 42575821 42575821 single base substitution G C intron_variant PACA-CA 12 42578403 42578403 single base substitution C T intron_variant PACA-CA 12 42578849 42578849 single base substitution G A intron_variant PACA-CA 12 42590925 42590925 single base substitution G C intron_variant PACA-CA 12 42594801 42594801 single base substitution G A intron_variant PACA-CA 12 42594801 42594801 single base substitution G A upstream_gene_variant PACA-CA 12 42597184 42597184 single base substitution C T intron_variant PACA-CA 12 42597184 42597184 single base substitution C T upstream_gene_variant PACA-CA 12 42599196 42599196 single base substitution G T intron_variant PACA-CA 12 42601557 42601557 single base substitution G A intron_variant PACA-CA 12 42601591 42601591 single base substitution G A intron_variant PACA-CA 12 42603631 42603631 single base substitution G A intron_variant PACA-CA 12 42603741 42603741 single base substitution C T intron_variant PACA-CA 12 42604905 42604905 single base substitution G T intron_variant PACA-CA 12 42604905 42604905 single base substitution G T upstream_gene_variant PACA-CA 12 42607331 42607331 single base substitution A G intron_variant PACA-CA 12 42607331 42607331 single base substitution A G upstream_gene_variant PACA-CA 12 42607648 42607648 single base substitution T G intron_variant PACA-CA 12 42607648 42607648 single base substitution T G upstream_gene_variant PACA-CA 12 42608122 42608122 single base substitution G A intron_variant PACA-CA 12 42608122 42608122 single base substitution G A upstream_gene_variant PACA-CA 12 42608770 42608770 single base substitution C T intron_variant PACA-CA 12 42608770 42608770 single base substitution C T upstream_gene_variant PACA-CA 12 42608830 42608830 single base substitution A G intron_variant PACA-CA 12 42608830 42608830 single base substitution A G upstream_gene_variant PACA-CA 12 42611245 42611245 deletion of <=200bp A - intron_variant PACA-CA 12 42612145 42612145 insertion of <=200bp - T intron_variant PACA-CA 12 42612946 42612946 single base substitution A G intron_variant PACA-CA 12 42617157 42617157 insertion of <=200bp - ACACACACACAT intron_variant PACA-CA 12 42621729 42621729 single base substitution G C downstream_gene_variant PACA-CA 12 42621729 42621729 single base substitution G C intron_variant PACA-CA 12 42621812 42621812 single base substitution A T downstream_gene_variant PACA-CA 12 42621812 42621812 single base substitution A T intron_variant PACA-CA 12 42623421 42623421 deletion of <=200bp A - downstream_gene_variant PACA-CA 12 42623421 42623421 deletion of <=200bp A - intron_variant PACA-CA 12 42623991 42623991 single base substitution G A downstream_gene_variant PACA-CA 12 42623991 42623991 single base substitution G A intron_variant PACA-CA 12 42624573 42624573 single base substitution A C downstream_gene_variant PACA-CA 12 42624573 42624573 single base substitution A C intron_variant PACA-CA 12 42634294 42634294 single base substitution C T upstream_gene_variant PAEN-AU 12 42548095 42548095 single base substitution A G downstream_gene_variant PAEN-AU 12 42609730 42609741 deletion of <=200bp AAATAAATAAAT - intron_variant PBCA-DE 12 42545949 42545949 single base substitution C T downstream_gene_variant PBCA-DE 12 42549033 42549033 deletion of <=200bp C - downstream_gene_variant PBCA-DE 12 42552989 42552989 single base substitution T A 3_prime_UTR_variant PBCA-DE 12 42552989 42552989 single base substitution T A downstream_gene_variant PBCA-DE 12 42555860 42555860 deletion of <=200bp A - intron_variant PBCA-DE 12 42555860 42555860 deletion of <=200bp A - upstream_gene_variant PBCA-DE 12 42565719 42565719 single base substitution C A intron_variant PBCA-DE 12 42567112 42567112 deletion of <=200bp T - intron_variant PBCA-DE 12 42571652 42571652 deletion of <=200bp C - intron_variant PBCA-DE 12 42583483 42583483 insertion of <=200bp - T intron_variant PBCA-DE 12 42583614 42583614 single base substitution G T intron_variant PBCA-DE 12 42584275 42584275 single base substitution C T intron_variant PBCA-DE 12 42589732 42589732 single base substitution T G intron_variant PBCA-DE 12 42595555 42595555 single base substitution G A intron_variant PBCA-DE 12 42595555 42595555 single base substitution G A upstream_gene_variant PBCA-DE 12 42595825 42595826 deletion of <=200bp TT - intron_variant PBCA-DE 12 42595825 42595826 deletion of <=200bp TT - upstream_gene_variant PBCA-DE 12 42601597 42601597 insertion of <=200bp - GCAGGAGAATGGCGTGAAC intron_variant PBCA-DE 12 42601616 42601616 single base substitution C G intron_variant PBCA-DE 12 42617134 42617134 insertion of <=200bp - AC intron_variant PBCA-DE 12 42620197 42620197 single base substitution G C downstream_gene_variant PBCA-DE 12 42620197 42620197 single base substitution G C intron_variant PBCA-DE 12 42621110 42621110 single base substitution C G downstream_gene_variant PBCA-DE 12 42621110 42621110 single base substitution C G intron_variant PBCA-DE 12 42621113 42621113 single base substitution C T downstream_gene_variant PBCA-DE 12 42621113 42621113 single base substitution C T intron_variant PBCA-DE 12 42621577 42621577 insertion of <=200bp - C downstream_gene_variant PBCA-DE 12 42621577 42621577 insertion of <=200bp - C intron_variant PBCA-DE 12 42621833 42621833 insertion of <=200bp - C downstream_gene_variant PBCA-DE 12 42621833 42621833 insertion of <=200bp - C intron_variant PBCA-DE 12 42623974 42623974 single base substitution G A downstream_gene_variant PBCA-DE 12 42623974 42623974 single base substitution G A intron_variant PBCA-DE 12 42636019 42636020 deletion of <=200bp GT - upstream_gene_variant PRAD-CA 12 42557066 42557066 single base substitution A C intron_variant PRAD-CA 12 42557066 42557066 single base substitution A C upstream_gene_variant PRAD-CA 12 42559152 42559152 single base substitution A G intron_variant PRAD-CA 12 42559152 42559152 single base substitution A G upstream_gene_variant PRAD-CA 12 42590773 42590773 single base substitution T G intron_variant PRAD-CA 12 42602820 42602820 single base substitution G A intron_variant PRAD-CA 12 42632562 42632562 single base substitution A C upstream_gene_variant PRAD-UK 12 42547413 42547413 single base substitution T A downstream_gene_variant PRAD-UK 12 42579773 42579773 single base substitution C G intron_variant PRAD-UK 12 42585738 42585738 deletion of <=200bp A - intron_variant PRAD-UK 12 42598079 42598079 single base substitution C A intron_variant PRAD-UK 12 42598079 42598079 single base substitution C A upstream_gene_variant PRAD-UK 12 42601912 42601912 single base substitution T A intron_variant PRAD-UK 12 42617797 42617797 single base substitution A T intron_variant PRAD-UK 12 42628284 42628284 single base substitution C T 3_prime_UTR_variant PRAD-UK 12 42628284 42628284 single base substitution C T downstream_gene_variant PRAD-UK 12 42628284 42628284 single base substitution C T exon_variant PRAD-UK 12 42628284 42628284 single base substitution C T intron_variant READ-US 12 42554538 42554538 single base substitution C A 3_prime_UTR_variant READ-US 12 42554538 42554538 single base substitution C A downstream_gene_variant READ-US 12 42554538 42554538 single base substitution C A exon_variant READ-US 12 42554538 42554538 single base substitution C A missense_variant E108D 324G>T READ-US 12 42554538 42554538 single base substitution C A missense_variant E123D 369G>T READ-US 12 42554538 42554538 single base substitution C A missense_variant E132D 396G>T READ-US 12 42554538 42554538 single base substitution C A missense_variant E156D 468G>T READ-US 12 42554538 42554538 single base substitution C A missense_variant E90D 270G>T RECA-EU 12 42559901 42559901 single base substitution T C intron_variant RECA-EU 12 42559901 42559901 single base substitution T C upstream_gene_variant RECA-EU 12 42560119 42560119 single base substitution C A intron_variant RECA-EU 12 42560119 42560119 single base substitution C A upstream_gene_variant RECA-EU 12 42566904 42566904 single base substitution T C intron_variant RECA-EU 12 42572774 42572774 single base substitution G A intron_variant RECA-EU 12 42574582 42574582 single base substitution C T intron_variant RECA-EU 12 42576282 42576282 single base substitution T A intron_variant RECA-EU 12 42580511 42580511 single base substitution G C intron_variant RECA-EU 12 42586891 42586891 single base substitution C G intron_variant RECA-EU 12 42617208 42617208 single base substitution G T intron_variant RECA-EU 12 42617519 42617519 single base substitution C T intron_variant RECA-EU 12 42623877 42623877 single base substitution G A downstream_gene_variant RECA-EU 12 42623877 42623877 single base substitution G A intron_variant RECA-EU 12 42625995 42625995 single base substitution A G 3_prime_UTR_variant RECA-EU 12 42625995 42625995 single base substitution A G downstream_gene_variant RECA-EU 12 42625995 42625995 single base substitution A G exon_variant RECA-EU 12 42625995 42625995 single base substitution A G intron_variant RECA-EU 12 42630759 42630759 single base substitution A C intron_variant RECA-EU 12 42633756 42633756 single base substitution G A upstream_gene_variant SKCA-BR 12 42547035 42547035 single base substitution G A downstream_gene_variant SKCA-BR 12 42547880 42547880 single base substitution G A downstream_gene_variant SKCA-BR 12 42549635 42549635 single base substitution G A downstream_gene_variant SKCA-BR 12 42550003 42550003 single base substitution G A downstream_gene_variant SKCA-BR 12 42551103 42551103 single base substitution A G 3_prime_UTR_variant SKCA-BR 12 42551103 42551103 single base substitution A G downstream_gene_variant SKCA-BR 12 42551938 42551938 single base substitution G A 3_prime_UTR_variant SKCA-BR 12 42551938 42551938 single base substitution G A downstream_gene_variant SKCA-BR 12 42557513 42557513 single base substitution G A intron_variant SKCA-BR 12 42557513 42557513 single base substitution G A upstream_gene_variant SKCA-BR 12 42559575 42559579 deletion of <=200bp GTTTT - intron_variant SKCA-BR 12 42559575 42559579 deletion of <=200bp GTTTT - upstream_gene_variant SKCA-BR 12 42561068 42561068 single base substitution C G intron_variant SKCA-BR 12 42561516 42561516 single base substitution G A intron_variant SKCA-BR 12 42569186 42569186 single base substitution G A intron_variant SKCA-BR 12 42582777 42582783 deletion of <=200bp GAGAAGT - intron_variant SKCA-BR 12 42583282 42583282 single base substitution G A intron_variant SKCA-BR 12 42585388 42585388 single base substitution C G intron_variant SKCA-BR 12 42586535 42586535 single base substitution T C intron_variant SKCA-BR 12 42586556 42586557 deletion of <=200bp AG - intron_variant SKCA-BR 12 42590156 42590156 single base substitution A G intron_variant SKCA-BR 12 42590261 42590264 deletion of <=200bp AAAG - intron_variant SKCA-BR 12 42591672 42591672 single base substitution C T intron_variant SKCA-BR 12 42591811 42591811 single base substitution G A intron_variant SKCA-BR 12 42596900 42596900 single base substitution G T intron_variant SKCA-BR 12 42596900 42596900 single base substitution G T upstream_gene_variant SKCA-BR 12 42601572 42601572 single base substitution A C intron_variant SKCA-BR 12 42602305 42602305 single base substitution T C intron_variant SKCA-BR 12 42606795 42606795 single base substitution C T intron_variant SKCA-BR 12 42606795 42606795 single base substitution C T upstream_gene_variant SKCA-BR 12 42609449 42609449 single base substitution G A intron_variant SKCA-BR 12 42609449 42609449 single base substitution G A upstream_gene_variant SKCA-BR 12 42609619 42609619 single base substitution G A intron_variant SKCA-BR 12 42609619 42609619 single base substitution G A upstream_gene_variant SKCA-BR 12 42610527 42610527 single base substitution C T intron_variant SKCA-BR 12 42617279 42617279 single base substitution G A intron_variant SKCA-BR 12 42617675 42617675 single base substitution C G intron_variant SKCA-BR 12 42620496 42620496 single base substitution G A downstream_gene_variant SKCA-BR 12 42620496 42620496 single base substitution G A intron_variant SKCA-BR 12 42620682 42620682 single base substitution G A downstream_gene_variant SKCA-BR 12 42620682 42620682 single base substitution G A intron_variant SKCA-BR 12 42621539 42621539 single base substitution G A downstream_gene_variant SKCA-BR 12 42621539 42621539 single base substitution G A intron_variant SKCA-BR 12 42621632 42621632 single base substitution G A downstream_gene_variant SKCA-BR 12 42621632 42621632 single base substitution G A intron_variant SKCA-BR 12 42622187 42622187 single base substitution A C downstream_gene_variant SKCA-BR 12 42622187 42622187 single base substitution A C intron_variant SKCA-BR 12 42622334 42622334 single base substitution T C downstream_gene_variant SKCA-BR 12 42622334 42622334 single base substitution T C intron_variant SKCA-BR 12 42622458 42622458 insertion of <=200bp - TG downstream_gene_variant SKCA-BR 12 42622458 42622458 insertion of <=200bp - TG intron_variant SKCA-BR 12 42622752 42622752 single base substitution G A downstream_gene_variant SKCA-BR 12 42622752 42622752 single base substitution G A intron_variant SKCA-BR 12 42623267 42623267 single base substitution T C downstream_gene_variant SKCA-BR 12 42623267 42623267 single base substitution T C intron_variant SKCA-BR 12 42626477 42626477 single base substitution G A 3_prime_UTR_variant SKCA-BR 12 42626477 42626477 single base substitution G A downstream_gene_variant SKCA-BR 12 42626477 42626477 single base substitution G A exon_variant SKCA-BR 12 42626477 42626477 single base substitution G A intron_variant SKCA-BR 12 42628009 42628009 single base substitution A G 3_prime_UTR_variant SKCA-BR 12 42628009 42628009 single base substitution A G downstream_gene_variant SKCA-BR 12 42628009 42628009 single base substitution A G exon_variant SKCA-BR 12 42628009 42628009 single base substitution A G intron_variant SKCA-BR 12 42631028 42631028 single base substitution C T intron_variant SKCA-BR 12 42631323 42631323 single base substitution A G intron_variant SKCA-BR 12 42631323 42631323 single base substitution A G upstream_gene_variant SKCA-BR 12 42631359 42631359 single base substitution A C intron_variant SKCA-BR 12 42631359 42631359 single base substitution A C upstream_gene_variant SKCA-BR 12 42631613 42631613 single base substitution G C intron_variant SKCA-BR 12 42631613 42631613 single base substitution G C upstream_gene_variant SKCA-BR 12 42633687 42633687 single base substitution G A upstream_gene_variant SKCA-BR 12 42635286 42635286 single base substitution T G upstream_gene_variant SKCA-BR 12 42636974 42636974 single base substitution T C upstream_gene_variant STAD-US 12 42555564 42555564 deletion of <=200bp T - 3_prime_UTR_variant STAD-US 12 42555564 42555564 deletion of <=200bp T - exon_variant STAD-US 12 42555564 42555564 deletion of <=200bp T - frameshift_variant K10 STAD-US 12 42555564 42555564 deletion of <=200bp T - frameshift_variant K13 STAD-US 12 42555564 42555564 deletion of <=200bp T - frameshift_variant K43 STAD-US 12 42555564 42555564 deletion of <=200bp T - frameshift_variant K52 STAD-US 12 42555564 42555564 deletion of <=200bp T - frameshift_variant K76 STAD-US 12 42555564 42555564 deletion of <=200bp T - intron_variant STAD-US 12 42555564 42555564 deletion of <=200bp T - upstream_gene_variant THCA-SA 12 42631962 42631962 single base substitution G A 5_prime_UTR_variant THCA-SA 12 42631962 42631962 single base substitution G A exon_variant THCA-SA 12 42631962 42631962 single base substitution G A synonymous_variant P7P 21C>T THCA-SA 12 42631962 42631962 single base substitution G A upstream_gene_variant UCEC-US 12 42555435 42555435 single base substitution C A 3_prime_UTR_variant UCEC-US 12 42555435 42555435 single base substitution C A downstream_gene_variant UCEC-US 12 42555435 42555435 single base substitution C A exon_variant UCEC-US 12 42555435 42555435 single base substitution C A missense_variant K119N 357G>T UCEC-US 12 42555435 42555435 single base substitution C A missense_variant K53N 159G>T UCEC-US 12 42555435 42555435 single base substitution C A missense_variant K71N 213G>T UCEC-US 12 42555435 42555435 single base substitution C A missense_variant K86N 258G>T UCEC-US 12 42555435 42555435 single base substitution C A missense_variant K95N 285G>T UCEC-US 12 42555435 42555435 single base substitution C A upstream_gene_variant UCEC-US 12 42555484 42555484 single base substitution T G 3_prime_UTR_variant UCEC-US 12 42555484 42555484 single base substitution T G downstream_gene_variant UCEC-US 12 42555484 42555484 single base substitution T G exon_variant UCEC-US 12 42555484 42555484 single base substitution T G missense_variant K103T 308A>C UCEC-US 12 42555484 42555484 single base substitution T G missense_variant K37T 110A>C UCEC-US 12 42555484 42555484 single base substitution T G missense_variant K55T 164A>C UCEC-US 12 42555484 42555484 single base substitution T G missense_variant K70T 209A>C UCEC-US 12 42555484 42555484 single base substitution T G missense_variant K79T 236A>C UCEC-US 12 42555484 42555484 single base substitution T G upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand S02289 COSM5685935 c.174G>C p.Q58H Substitution - Missense 12:42161744-42161744 - T9 COSM5342114 c.237A>T p.K79N Substitution - Missense 12:42161681-42161681 - SW403 COSM4655204 c.486G>T p.M162I Substitution - Missense 12:42160646-42160646 - TCGA-A8-A084-01 COSM431084 c.364G>A p.D122N Substitution - Missense 12:42160768-42160768 - KPOPBR-39-T COSM5964518 c.359T>C p.V120A Substitution - Missense 12:42160773-42160773 - TCGA-DR-A0ZM-01 COSM459517 c.466G>C p.D156H Substitution - Missense 12:42160666-42160666 - TCGA-AZ-6601-01 COSM5142236 c.81C>A p.V27V Substitution - coding silent 12:42237670-42237670 - HCC124T COSM5808669 c.145T>A p.S49T Substitution - Missense 12:42237606-42237606 - TCGA-D5-6928-01 COSM5165270 c.259_260insA p.S87fs*2 Insertion - Frameshift 12:42161658-42161659 - tumor_4105746 COSM5946406 c.468T>C p.D156D Substitution - coding silent 12:42160664-42160664 - T3724 COSM4741804 c.100G>A p.A34T Substitution - Missense 12:42237651-42237651 - TCGA-B5-A0JY-01 COSM939241 c.236A>C p.K79T Substitution - Missense 12:42161682-42161682 - TCGA-DR-A0ZM-01 COSM459518 c.532G>A p.E178K Substitution - Missense 12:42160600-42160600 - CHC1209T COSM5347552 c.14_16delAGA p.K5delK Deletion - In frame 12:42238165-42238167 - TCGA-E6-A1LZ-01 COSM939239 c.498T>C p.S166S Substitution - coding silent 12:42160634-42160634 - TCGA-EI-6917-01 COSM3416834 c.396G>T p.E132D Substitution - Missense 12:42160736-42160736 - cSCCP6 COSM136892 c.449A>G p.Q150R Substitution - Missense 12:42160683-42160683 - TCGA-18-3410-01 COSM693128 c.454G>A p.G152S Substitution - Missense 12:42160678-42160678 - LUAD-D02185 COSM338477 c.488C>G p.S163C Substitution - Missense 12:42160644-42160644 - TCGA-CU-A3KJ-01 COSM3792579 c.521C>T p.S174L Substitution - Missense 12:42160611-42160611 - TCGA-AX-A0J0-01 COSM939240 c.285G>T p.K95N Substitution - Missense 12:42161633-42161633 - OSCC-GB_00160111 COSM3710751 c.36G>T p.R12R Substitution - coding silent 12:42237715-42237715 - TCGA-AN-A046-01 COSM3811993 c.235A>C p.K79Q Substitution - Missense 12:42161683-42161683 - TCGA-AA-A00N-01 COSM278169 c.351A>C p.E117D Substitution - Missense 12:42160781-42160781 - PD8964a COSM5782268 c.539A>C p.H180P Substitution - Missense 12:42160593-42160593 - 16T COSM3710751 c.36G>T p.R12R Substitution - coding silent 12:42237715-42237715 - CSCC-4-T COSM4467303 c.147C>T p.S49S Substitution - coding silent 12:42237604-42237604 - TCGA-22-4613-01 COSM693129 c.455G>T p.G152V Substitution - Missense 12:42160677-42160677 - TCGA-39-5036-01 COSM693127 c.398A>T p.K133I Substitution - Missense 12:42160734-42160734 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.708082;Hs.708083;Hs.708084 12q12 607534 2425544|dbSNP|BC037777|C/T|coding|Ala167Ala|556|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G 3-UTRSNV . c.612+928T>C 12 42553466 HC C A Missense p.G176V c.527G>T 12 42554479 LUSC C T Missense p.D146N c.436G>A 12 42554570 BRCA C T Missense p.G176S c.526G>A 12 42554480 LUSC T A 3-UTRSNV . c.612+1405A>T 12 42552989 MB T A Missense p.K157I c.470A>T 12 42554536 LUSC