Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 1 6659127 6659127 + Silent SNP G G A TCGA-OR-A5LJ-01A-11D-A29I-10 TCGA-OR-A5LJ-10A-01D-A29L-10 g.chr1:6659127G>A c.1407C>T c.(1405-1407)aaC>aaT p.N469N BLCA 1 6653440 6653440 + Silent SNP G G A TCGA-YF-AA3L-01A-11D-A38G-08 TCGA-YF-AA3L-10A-01D-A38J-08 g.chr1:6653440G>A c.1779C>T c.(1777-1779)ccC>ccT p.P593P BLCA 1 6653596 6653596 + Silent SNP G G A TCGA-E7-A5KE-01A-11D-A289-08 TCGA-E7-A5KE-10A-01D-A289-08 g.chr1:6653596G>A c.1623C>T c.(1621-1623)agC>agT p.S541S BLCA 1 6655551 6655551 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 g.chr1:6655551C>T c.1494G>A c.(1492-1494)atG>atA p.M498I BLCA 1 6659244 6659244 + Silent SNP C C T TCGA-XF-A8HI-01A-11D-A38G-08 TCGA-XF-A8HI-10A-01D-A38J-08 g.chr1:6659244C>T c.1290G>A c.(1288-1290)ctG>ctA p.L430L BLCA 1 6659498 6659498 + Missense_Mutation SNP A A T TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 g.chr1:6659498A>T c.1036T>A c.(1036-1038)Tcc>Acc p.S346T BRCA 1 6659504 6659504 + Missense_Mutation SNP C C T TCGA-E2-A10F-01A-11D-A10M-09 TCGA-E2-A10F-10A-01D-A10M-09 g.chr1:6659504C>T c.1030G>A c.(1030-1032)Gat>Aat p.D344N COAD 1 6653586 6653586 + Missense_Mutation SNP G G A TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr1:6653586G>A c.1633C>T c.(1633-1635)Cgg>Tgg p.R545W COAD 1 6653694 6653694 + Missense_Mutation SNP C C T TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr1:6653694C>T c.1525G>A c.(1525-1527)Gtc>Atc p.V509I COAD 1 6653704 6653705 + Frame_Shift_Ins INS - - C TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr1:6653704_6653705insC c.1514_1515insG c.(1513-1515)ggcfs p.G505fs COADREAD 1 6653586 6653586 + Missense_Mutation SNP G G A TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr1:6653586G>A c.1633C>T c.(1633-1635)Cgg>Tgg p.R545W COADREAD 1 6653694 6653694 + Missense_Mutation SNP C C T TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr1:6653694C>T c.1525G>A c.(1525-1527)Gtc>Atc p.V509I COADREAD 1 6653704 6653705 + Frame_Shift_Ins INS - - C TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr1:6653704_6653705insC c.1514_1515insG c.(1513-1515)ggcfs p.G505fs DLBC 1 6662376 6662376 + Silent SNP G G A TCGA-GS-A9TT-01A-11D-A382-10 TCGA-GS-A9TT-10A-01D-A385-10 g.chr1:6662376G>A c.502C>T c.(502-504)Ctg>Ttg p.L168L DLBC 1 6662386 6662386 + Missense_Mutation SNP G G T TCGA-GS-A9TT-01A-11D-A382-10 TCGA-GS-A9TT-10A-01D-A385-10 g.chr1:6662386G>T c.492C>A c.(490-492)caC>caA p.H164Q ESCA 1 6659289 6659289 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 g.chr1:6659289G>C c.1245C>G c.(1243-1245)tgC>tgG p.C415W GBMLGG 1 6653465 6653465 + Missense_Mutation SNP C C T TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 g.chr1:6653465C>T c.1754G>A c.(1753-1755)gGc>gAc p.G585D GBMLGG 1 6653596 6653596 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:6653596G>A c.1623C>T c.(1621-1623)agC>agT p.S541S HNSC 1 6659379 6659379 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr1:6659379G>A c.1155C>T c.(1153-1155)taC>taT p.Y385Y KIPAN 1 6655551 6655551 + Missense_Mutation SNP C C T TCGA-CJ-4912-01A-01D-1429-08 TCGA-CJ-4912-11A-01D-1429-08 g.chr1:6655551C>T c.1494G>A c.(1492-1494)atG>atA p.M498I KIPAN 1 6659179 6659179 + Missense_Mutation SNP T T C TCGA-A4-A6HP-01A-11D-A31X-10 TCGA-A4-A6HP-10A-01D-A31X-10 g.chr1:6659179T>C c.1355A>G c.(1354-1356)gAc>gGc p.D452G KIRC 1 6655551 6655551 + Missense_Mutation SNP C C T TCGA-CJ-4912-01A-01D-1429-08 TCGA-CJ-4912-11A-01D-1429-08 g.chr1:6655551C>T c.1494G>A c.(1492-1494)atG>atA p.M498I KIRP 1 6659179 6659179 + Missense_Mutation SNP T T C TCGA-A4-A6HP-01A-11D-A31X-10 TCGA-A4-A6HP-10A-01D-A31X-10 g.chr1:6659179T>C c.1355A>G c.(1354-1356)gAc>gGc p.D452G LGG 1 6653465 6653465 + Missense_Mutation SNP C C T TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 g.chr1:6653465C>T c.1754G>A c.(1753-1755)gGc>gAc p.G585D LGG 1 6653596 6653596 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:6653596G>A c.1623C>T c.(1621-1623)agC>agT p.S541S LIHC 1 6653499 6653499 + Missense_Mutation SNP C C T TCGA-BD-A3EP-01A-11D-A22F-10 TCGA-BD-A3EP-11A-12D-A22F-10 g.chr1:6653499C>T c.1720G>A c.(1720-1722)Gag>Aag p.E574K LIHC 1 6661948 6661948 + Missense_Mutation SNP C C A TCGA-CC-A7IJ-01A-11D-A33Q-10 TCGA-CC-A7IJ-10A-01D-A33Q-10 g.chr1:6661948C>A c.930G>T c.(928-930)caG>caT p.Q310H LUAD 1 6653499 6653499 + Missense_Mutation SNP C C G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 g.chr1:6653499C>G c.1720G>C c.(1720-1722)Gag>Cag p.E574Q LUAD 1 6653604 6653604 + Missense_Mutation SNP C C A TCGA-MP-A4TF-01A-11D-A25L-08 TCGA-MP-A4TF-10A-01D-A25L-08 g.chr1:6653604C>A c.1615G>T c.(1615-1617)Gcg>Tcg p.A539S LUAD 1 6655560 6655561 + Frame_Shift_Ins INS - - A TCGA-05-5429-01A-01D-1625-08 TCGA-05-5429-10A-01D-1625-08 g.chr1:6655560_6655561insA c.1484_1485insT c.(1483-1485)atcfs p.I495fs LUAD 1 6655584 6655584 + Silent SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 g.chr1:6655584C>A c.1461G>T c.(1459-1461)ccG>ccT p.P487P LUAD 1 6655607 6655607 + Missense_Mutation SNP C C T TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 g.chr1:6655607C>T c.1438G>A c.(1438-1440)Gct>Act p.A480T PRAD 1 6659137 6659137 + Missense_Mutation SNP G G A TCGA-EJ-5508-01A-02D-1576-08 TCGA-EJ-5508-10A-01D-1577-08 g.chr1:6659137G>A c.1397C>T c.(1396-1398)gCg>gTg p.A466V SARC 1 6659372 6659372 + Missense_Mutation SNP C C A TCGA-3R-A8YX-01A-11D-A37C-09 TCGA-3R-A8YX-10A-01D-A37F-09 g.chr1:6659372C>A c.1162G>T c.(1162-1164)Gcc>Tcc p.A388S SKCM 1 6653691 6653691 + Missense_Mutation SNP G G A TCGA-EE-A3JB-06A-11D-A21A-08 TCGA-EE-A3JB-10A-01D-A21A-08 g.chr1:6653691G>A c.1528C>T c.(1528-1530)Ctt>Ttt p.L510F SKCM 1 6659204 6659204 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 g.chr1:6659204C>T c.1330G>A c.(1330-1332)Gac>Aac p.D444N SKCM 1 6659367 6659367 + Silent SNP G G A TCGA-EE-A2A0-06A-11D-A196-08 TCGA-EE-A2A0-10A-01D-A198-08 g.chr1:6659367G>A c.1167C>T c.(1165-1167)gcC>gcT p.A389A

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 1 6646824 6646824 single base substitution C G downstream_gene_variant BLCA-CN 1 6648411 6648411 single base substitution C T downstream_gene_variant BLCA-US 1 6649195 6649195 single base substitution G A downstream_gene_variant BRCA-EU 1 6646772 6646772 single base substitution G A downstream_gene_variant BRCA-EU 1 6646818 6646818 single base substitution G C downstream_gene_variant BRCA-EU 1 6647130 6647130 single base substitution C G downstream_gene_variant BRCA-EU 1 6647898 6647898 single base substitution C G downstream_gene_variant BRCA-EU 1 6648484 6648484 single base substitution T C downstream_gene_variant BRCA-EU 1 6651086 6651086 single base substitution C A 3_prime_UTR_variant BRCA-EU 1 6651086 6651086 single base substitution C A downstream_gene_variant BRCA-EU 1 6653663 6653663 single base substitution C T 3_prime_UTR_variant BRCA-EU 1 6653663 6653663 single base substitution C T downstream_gene_variant BRCA-EU 1 6653663 6653663 single base substitution C T missense_variant G152E 455G>A BRCA-EU 1 6653663 6653663 single base substitution C T missense_variant G519E 1556G>A BRCA-EU 1 6654004 6654004 single base substitution C T 3_prime_UTR_variant BRCA-EU 1 6654004 6654004 single base substitution C T downstream_gene_variant BRCA-EU 1 6654004 6654004 single base substitution C T intron_variant BRCA-EU 1 6654766 6654766 single base substitution A T 3_prime_UTR_variant BRCA-EU 1 6654766 6654766 single base substitution A T intron_variant BRCA-EU 1 6655490 6655490 single base substitution G A intron_variant BRCA-EU 1 6655490 6655490 single base substitution G A missense_variant P519S 1555C>T BRCA-EU 1 6656501 6656501 insertion of <=200bp - A intron_variant BRCA-EU 1 6656690 6656690 single base substitution C G intron_variant BRCA-EU 1 6659623 6659623 single base substitution G T intron_variant BRCA-EU 1 6660078 6660079 deletion of <=200bp AT - intron_variant BRCA-EU 1 6660078 6660079 deletion of <=200bp AT - upstream_gene_variant BRCA-EU 1 6661485 6661485 single base substitution C A intron_variant BRCA-EU 1 6661485 6661485 single base substitution C A upstream_gene_variant BRCA-EU 1 6663216 6663216 single base substitution C G intron_variant BRCA-EU 1 6663216 6663216 single base substitution C G upstream_gene_variant BRCA-EU 1 6663216 6663216 single base substitution C T intron_variant BRCA-EU 1 6663216 6663216 single base substitution C T upstream_gene_variant BRCA-EU 1 6665544 6665544 single base substitution C T intron_variant BRCA-EU 1 6665544 6665544 single base substitution C T upstream_gene_variant BRCA-EU 1 6665952 6665952 single base substitution C G intron_variant BRCA-EU 1 6665952 6665952 single base substitution C G upstream_gene_variant BRCA-EU 1 6667875 6667875 single base substitution C T intron_variant BRCA-EU 1 6667875 6667875 single base substitution C T upstream_gene_variant BRCA-EU 1 6669830 6669830 single base substitution G A intron_variant BRCA-EU 1 6670596 6670596 insertion of <=200bp - A intron_variant BRCA-EU 1 6671373 6671373 single base substitution G T intron_variant BRCA-EU 1 6671801 6671801 single base substitution T C intron_variant BRCA-EU 1 6673946 6673946 single base substitution A T intron_variant BRCA-EU 1 6674015 6674015 single base substitution C G intron_variant BRCA-EU 1 6674892 6674892 single base substitution C T upstream_gene_variant BRCA-FR 1 6656690 6656690 single base substitution C G intron_variant BRCA-FR 1 6663216 6663216 single base substitution C G intron_variant BRCA-FR 1 6663216 6663216 single base substitution C G upstream_gene_variant BRCA-UK 1 6671373 6671373 single base substitution G T intron_variant BRCA-UK 1 6674455 6674455 single base substitution C G intron_variant BRCA-US 1 6648359 6648359 single base substitution G A downstream_gene_variant BRCA-US 1 6649225 6649225 deletion of <=200bp C - downstream_gene_variant BRCA-US 1 6659504 6659504 single base substitution C T 5_prime_UTR_variant BRCA-US 1 6659504 6659504 single base substitution C T missense_variant D344N 1030G>A BRCA-US 1 6676836 6676836 single base substitution A C upstream_gene_variant BTCA-JP 1 6646765 6646765 single base substitution G T downstream_gene_variant BTCA-JP 1 6647070 6647070 single base substitution G A downstream_gene_variant BTCA-JP 1 6647585 6647585 single base substitution G A downstream_gene_variant BTCA-JP 1 6648084 6648084 single base substitution G A downstream_gene_variant BTCA-JP 1 6648186 6648186 single base substitution G A downstream_gene_variant BTCA-JP 1 6648208 6648208 single base substitution G C downstream_gene_variant BTCA-JP 1 6676930 6676930 single base substitution A G upstream_gene_variant CLLE-ES 1 6655872 6655872 single base substitution T C intron_variant CLLE-ES 1 6664728 6664728 single base substitution T C intron_variant CLLE-ES 1 6664728 6664728 single base substitution T C upstream_gene_variant CLLE-ES 1 6672208 6672208 single base substitution G T intron_variant COAD-US 1 6647546 6647546 single base substitution C G downstream_gene_variant COAD-US 1 6648194 6648194 single base substitution G A downstream_gene_variant COAD-US 1 6648248 6648248 single base substitution G A downstream_gene_variant COAD-US 1 6648413 6648413 single base substitution C T downstream_gene_variant COAD-US 1 6649228 6649228 single base substitution T G downstream_gene_variant COAD-US 1 6653586 6653586 single base substitution G A 3_prime_UTR_variant COAD-US 1 6653586 6653586 single base substitution G A downstream_gene_variant COAD-US 1 6653586 6653586 single base substitution G A missense_variant R178W 532C>T COAD-US 1 6653586 6653586 single base substitution G A missense_variant R545W 1633C>T COAD-US 1 6653694 6653694 single base substitution C T 3_prime_UTR_variant COAD-US 1 6653694 6653694 single base substitution C T downstream_gene_variant COAD-US 1 6653694 6653694 single base substitution C T missense_variant V142I 424G>A COAD-US 1 6653694 6653694 single base substitution C T missense_variant V509I 1525G>A COAD-US 1 6653704 6653704 insertion of <=200bp - C 3_prime_UTR_variant COAD-US 1 6653704 6653704 insertion of <=200bp - C downstream_gene_variant COAD-US 1 6653704 6653704 insertion of <=200bp - C frameshift_variant G138G? COAD-US 1 6653704 6653704 insertion of <=200bp - C frameshift_variant G505G? COAD-US 1 6659338 6659338 single base substitution G A missense_variant T32I 95C>T COAD-US 1 6659338 6659338 single base substitution G A missense_variant T399I 1196C>T COAD-US 1 6676842 6676842 single base substitution G A upstream_gene_variant COCA-CN 1 6646876 6646876 single base substitution G T downstream_gene_variant COCA-CN 1 6647059 6647059 single base substitution C A downstream_gene_variant COCA-CN 1 6647706 6647706 single base substitution G A downstream_gene_variant COCA-CN 1 6659369 6659369 single base substitution C T missense_variant A22T 64G>A COCA-CN 1 6659369 6659369 single base substitution C T missense_variant A389T 1165G>A COCA-CN 1 6659445 6659445 single base substitution C T 5_prime_UTR_variant COCA-CN 1 6659445 6659445 single base substitution C T synonymous_variant A363A 1089G>A EOPC-DE 1 6666801 6666801 single base substitution G C intron_variant EOPC-DE 1 6666801 6666801 single base substitution G C upstream_gene_variant EOPC-DE 1 6672729 6672729 single base substitution A C intron_variant ESAD-UK 1 6649031 6649031 single base substitution G A downstream_gene_variant ESAD-UK 1 6649712 6649712 single base substitution T G downstream_gene_variant ESAD-UK 1 6651423 6651423 single base substitution C T 3_prime_UTR_variant ESAD-UK 1 6651423 6651423 single base substitution C T downstream_gene_variant ESAD-UK 1 6652071 6652071 single base substitution C T 3_prime_UTR_variant ESAD-UK 1 6652071 6652071 single base substitution C T downstream_gene_variant ESAD-UK 1 6652457 6652457 single base substitution C T 3_prime_UTR_variant ESAD-UK 1 6652457 6652457 single base substitution C T downstream_gene_variant ESAD-UK 1 6653978 6653978 single base substitution C T 3_prime_UTR_variant ESAD-UK 1 6653978 6653978 single base substitution C T downstream_gene_variant ESAD-UK 1 6653978 6653978 single base substitution C T intron_variant ESAD-UK 1 6654250 6654250 single base substitution G A 3_prime_UTR_variant ESAD-UK 1 6654250 6654250 single base substitution G A intron_variant ESAD-UK 1 6654664 6654664 single base substitution G T 3_prime_UTR_variant ESAD-UK 1 6654664 6654664 single base substitution G T intron_variant ESAD-UK 1 6657992 6657992 single base substitution G A intron_variant ESAD-UK 1 6658926 6658926 single base substitution G A intron_variant ESAD-UK 1 6661923 6661923 single base substitution C T intron_variant ESAD-UK 1 6661923 6661923 single base substitution C T missense_variant E319K 955G>A ESAD-UK 1 6661923 6661923 single base substitution C T upstream_gene_variant ESAD-UK 1 6662237 6662237 single base substitution G A intron_variant ESAD-UK 1 6662237 6662237 single base substitution G A missense_variant A214V 641C>T ESAD-UK 1 6662237 6662237 single base substitution G A upstream_gene_variant ESAD-UK 1 6662898 6662898 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 1 6662898 6662898 single base substitution G A intron_variant ESAD-UK 1 6662898 6662898 single base substitution G A upstream_gene_variant ESAD-UK 1 6663355 6663355 single base substitution C T intron_variant ESAD-UK 1 6663355 6663355 single base substitution C T upstream_gene_variant ESAD-UK 1 6664774 6664774 deletion of <=200bp A - intron_variant ESAD-UK 1 6664774 6664774 deletion of <=200bp A - upstream_gene_variant ESAD-UK 1 6664784 6664784 single base substitution A C intron_variant ESAD-UK 1 6664784 6664784 single base substitution A C upstream_gene_variant ESAD-UK 1 6666322 6666322 single base substitution C T intron_variant ESAD-UK 1 6666322 6666322 single base substitution C T upstream_gene_variant ESAD-UK 1 6666577 6666577 deletion of <=200bp A - intron_variant ESAD-UK 1 6666577 6666577 deletion of <=200bp A - upstream_gene_variant ESAD-UK 1 6667086 6667086 single base substitution G A intron_variant ESAD-UK 1 6667086 6667086 single base substitution G A upstream_gene_variant ESAD-UK 1 6667323 6667323 deletion of <=200bp C - intron_variant ESAD-UK 1 6667323 6667323 deletion of <=200bp C - upstream_gene_variant ESAD-UK 1 6668118 6668118 single base substitution C A intron_variant ESAD-UK 1 6671879 6671879 single base substitution A C intron_variant ESAD-UK 1 6672783 6672783 single base substitution T C intron_variant ESAD-UK 1 6673625 6673625 single base substitution T C intron_variant ESAD-UK 1 6673688 6673688 single base substitution A G intron_variant ESAD-UK 1 6679308 6679308 single base substitution T G upstream_gene_variant ESCA-CN 1 6646770 6646770 single base substitution G A downstream_gene_variant KIRC-US 1 6647268 6647280 deletion of <=200bp TCCTCCTGCTCCC - downstream_gene_variant KIRC-US 1 6655551 6655551 single base substitution C T missense_variant M131I 393G>A KIRC-US 1 6655551 6655551 single base substitution C T missense_variant M498I 1494G>A KIRC-US 1 6661906 6661906 single base substitution C A intron_variant KIRC-US 1 6661906 6661906 single base substitution C A synonymous_variant L324L 972G>T KIRC-US 1 6661906 6661906 single base substitution C A upstream_gene_variant KIRC-US 1 6676887 6676887 single base substitution C T upstream_gene_variant KIRP-US 1 6659179 6659179 single base substitution T C missense_variant D452G 1355A>G KIRP-US 1 6659179 6659179 single base substitution T C missense_variant D85G 254A>G LAML-KR 1 6666725 6666725 single base substitution C A intron_variant LAML-KR 1 6666725 6666725 single base substitution C A upstream_gene_variant LGG-US 1 6647351 6647354 deletion of <=200bp AGTA - downstream_gene_variant LIAD-FR 1 6662057 6662057 single base substitution G A intron_variant LIAD-FR 1 6662057 6662057 single base substitution G A missense_variant P274L 821C>T LIAD-FR 1 6662057 6662057 single base substitution G A upstream_gene_variant LICA-FR 1 6646030 6646030 single base substitution C T downstream_gene_variant LICA-FR 1 6649028 6649028 single base substitution C T downstream_gene_variant LICA-FR 1 6672214 6672214 deletion of <=200bp T - intron_variant LIHC-US 1 6646059 6646059 single base substitution A G downstream_gene_variant LIHC-US 1 6661869 6661869 single base substitution T A intron_variant LIHC-US 1 6661869 6661869 single base substitution T A missense_variant I337F 1009A>T LIHC-US 1 6661869 6661869 single base substitution T A upstream_gene_variant LIHC-US 1 6661948 6661948 single base substitution C A intron_variant LIHC-US 1 6661948 6661948 single base substitution C A missense_variant Q310H 930G>T LIHC-US 1 6661948 6661948 single base substitution C A upstream_gene_variant LINC-JP 1 6646595 6646595 single base substitution G A downstream_gene_variant LINC-JP 1 6646765 6646765 single base substitution G T downstream_gene_variant LINC-JP 1 6646977 6646977 single base substitution C T downstream_gene_variant LINC-JP 1 6647070 6647070 single base substitution G A downstream_gene_variant LINC-JP 1 6647337 6647337 single base substitution C T downstream_gene_variant LINC-JP 1 6647585 6647585 single base substitution G A downstream_gene_variant LINC-JP 1 6648084 6648084 single base substitution G A downstream_gene_variant LINC-JP 1 6648186 6648186 single base substitution G A downstream_gene_variant LINC-JP 1 6648208 6648208 single base substitution G C downstream_gene_variant LINC-JP 1 6651250 6651250 single base substitution G A 3_prime_UTR_variant LINC-JP 1 6651250 6651250 single base substitution G A downstream_gene_variant LINC-JP 1 6659495 6659495 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant LINC-JP 1 6659495 6659495 single base substitution G A missense_variant R347W 1039C>T LINC-JP 1 6666990 6666990 single base substitution C G intron_variant LINC-JP 1 6666990 6666990 single base substitution C G upstream_gene_variant LINC-JP 1 6671437 6671437 deletion of <=200bp A - intron_variant LINC-JP 1 6678230 6678230 single base substitution T G upstream_gene_variant LIRI-JP 1 6647293 6647295 deletion of <=200bp AGA - downstream_gene_variant LIRI-JP 1 6649117 6649117 single base substitution T A downstream_gene_variant LIRI-JP 1 6651033 6651033 single base substitution T G 3_prime_UTR_variant LIRI-JP 1 6651033 6651033 single base substitution T G downstream_gene_variant LIRI-JP 1 6652062 6652062 single base substitution A C 3_prime_UTR_variant LIRI-JP 1 6652062 6652062 single base substitution A C downstream_gene_variant LIRI-JP 1 6653864 6653864 single base substitution C A 3_prime_UTR_variant LIRI-JP 1 6653864 6653864 single base substitution C A downstream_gene_variant LIRI-JP 1 6653864 6653864 single base substitution C A intron_variant LIRI-JP 1 6653868 6653868 single base substitution T C 3_prime_UTR_variant LIRI-JP 1 6653868 6653868 single base substitution T C downstream_gene_variant LIRI-JP 1 6653868 6653868 single base substitution T C intron_variant LIRI-JP 1 6657352 6657352 single base substitution G A intron_variant LIRI-JP 1 6657620 6657620 single base substitution C A intron_variant LIRI-JP 1 6660457 6660457 single base substitution C T intron_variant LIRI-JP 1 6660457 6660457 single base substitution C T upstream_gene_variant LIRI-JP 1 6661066 6661066 single base substitution T C intron_variant LIRI-JP 1 6661066 6661066 single base substitution T C upstream_gene_variant LIRI-JP 1 6668711 6668711 single base substitution T C intron_variant LIRI-JP 1 6672753 6672753 single base substitution T C intron_variant LIRI-JP 1 6673396 6673396 single base substitution G A intron_variant LIRI-JP 1 6676516 6676522 deletion of <=200bp TAATAGA - upstream_gene_variant LIRI-JP 1 6679251 6679251 single base substitution G A upstream_gene_variant LUSC-KR 1 6645866 6645866 single base substitution C T downstream_gene_variant LUSC-KR 1 6647704 6647704 single base substitution C G downstream_gene_variant LUSC-KR 1 6651259 6651259 single base substitution T C 3_prime_UTR_variant LUSC-KR 1 6651259 6651259 single base substitution T C downstream_gene_variant LUSC-KR 1 6651349 6651349 single base substitution A C 3_prime_UTR_variant LUSC-KR 1 6651349 6651349 single base substitution A C downstream_gene_variant LUSC-KR 1 6651728 6651728 single base substitution C T 3_prime_UTR_variant LUSC-KR 1 6651728 6651728 single base substitution C T downstream_gene_variant LUSC-KR 1 6652718 6652718 single base substitution G A 3_prime_UTR_variant LUSC-KR 1 6652718 6652718 single base substitution G A downstream_gene_variant LUSC-KR 1 6652745 6652745 single base substitution G A 3_prime_UTR_variant LUSC-KR 1 6652745 6652745 single base substitution G A downstream_gene_variant LUSC-KR 1 6655804 6655804 single base substitution T A intron_variant LUSC-KR 1 6659445 6659445 single base substitution C T 5_prime_UTR_variant LUSC-KR 1 6659445 6659445 single base substitution C T synonymous_variant A363A 1089G>A LUSC-KR 1 6665683 6665683 single base substitution G A intron_variant LUSC-KR 1 6665683 6665683 single base substitution G A upstream_gene_variant LUSC-KR 1 6665684 6665684 single base substitution A G intron_variant LUSC-KR 1 6665684 6665684 single base substitution A G upstream_gene_variant LUSC-KR 1 6673610 6673610 single base substitution C A intron_variant LUSC-KR 1 6678595 6678595 single base substitution G T upstream_gene_variant LUSC-KR 1 6679106 6679106 single base substitution G T upstream_gene_variant LUSC-US 1 6648820 6648820 single base substitution G T downstream_gene_variant MALY-DE 1 6650262 6650262 single base substitution T G downstream_gene_variant MALY-DE 1 6651730 6651730 single base substitution A G 3_prime_UTR_variant MALY-DE 1 6651730 6651730 single base substitution A G downstream_gene_variant MALY-DE 1 6660633 6660633 single base substitution G A intron_variant MALY-DE 1 6660633 6660633 single base substitution G A upstream_gene_variant MALY-DE 1 6661920 6661920 single base substitution A T intron_variant MALY-DE 1 6661920 6661920 single base substitution A T missense_variant F320I 958T>A MALY-DE 1 6661920 6661920 single base substitution A T upstream_gene_variant MALY-DE 1 6661953 6661953 single base substitution G C intron_variant MALY-DE 1 6661953 6661953 single base substitution G C missense_variant P309A 925C>G MALY-DE 1 6661953 6661953 single base substitution G C upstream_gene_variant MALY-DE 1 6662007 6662007 single base substitution C A intron_variant MALY-DE 1 6662007 6662007 single base substitution C A missense_variant V291L 871G>T MALY-DE 1 6662007 6662007 single base substitution C A upstream_gene_variant MALY-DE 1 6662034 6662034 single base substitution T C intron_variant MALY-DE 1 6662034 6662034 single base substitution T C missense_variant T282A 844A>G MALY-DE 1 6662034 6662034 single base substitution T C upstream_gene_variant MALY-DE 1 6662049 6662049 single base substitution G A intron_variant MALY-DE 1 6662049 6662049 single base substitution G A missense_variant R277C 829C>T MALY-DE 1 6662049 6662049 single base substitution G A upstream_gene_variant MALY-DE 1 6662089 6662089 single base substitution C G intron_variant MALY-DE 1 6662089 6662089 single base substitution C G synonymous_variant A263A 789G>C MALY-DE 1 6662089 6662089 single base substitution C G upstream_gene_variant MALY-DE 1 6662178 6662178 single base substitution G A intron_variant MALY-DE 1 6662178 6662178 single base substitution G A synonymous_variant L234L 700C>T MALY-DE 1 6662178 6662178 single base substitution G A upstream_gene_variant MALY-DE 1 6662179 6662179 single base substitution G A intron_variant MALY-DE 1 6662179 6662179 single base substitution G A synonymous_variant Y233Y 699C>T MALY-DE 1 6662179 6662179 single base substitution G A upstream_gene_variant MALY-DE 1 6662237 6662237 single base substitution G C intron_variant MALY-DE 1 6662237 6662237 single base substitution G C missense_variant A214G 641C>G MALY-DE 1 6662237 6662237 single base substitution G C upstream_gene_variant MALY-DE 1 6662278 6662278 single base substitution C G intron_variant MALY-DE 1 6662278 6662278 single base substitution C G missense_variant Q200H 600G>C MALY-DE 1 6662278 6662278 single base substitution C G upstream_gene_variant MALY-DE 1 6662297 6662297 single base substitution T C intron_variant MALY-DE 1 6662297 6662297 single base substitution T C missense_variant K194R 581A>G MALY-DE 1 6662297 6662297 single base substitution T C upstream_gene_variant MALY-DE 1 6662493 6662493 single base substitution G A intron_variant MALY-DE 1 6662493 6662493 single base substitution G A synonymous_variant L129L 385C>T MALY-DE 1 6662493 6662493 single base substitution G A upstream_gene_variant MALY-DE 1 6662597 6662597 single base substitution C G intron_variant MALY-DE 1 6662597 6662597 single base substitution C G missense_variant S94T 281G>C MALY-DE 1 6662597 6662597 single base substitution C G upstream_gene_variant MALY-DE 1 6663395 6663395 single base substitution T G intron_variant MALY-DE 1 6663395 6663395 single base substitution T G upstream_gene_variant MALY-DE 1 6663396 6663396 single base substitution T C intron_variant MALY-DE 1 6663396 6663396 single base substitution T C upstream_gene_variant MALY-DE 1 6664480 6664480 single base substitution A C intron_variant MALY-DE 1 6664480 6664480 single base substitution A C upstream_gene_variant MALY-DE 1 6664727 6664727 single base substitution A G intron_variant MALY-DE 1 6664727 6664727 single base substitution A G upstream_gene_variant MALY-DE 1 6673375 6673375 single base substitution C T intron_variant MELA-AU 1 6646374 6646374 single base substitution C T downstream_gene_variant MELA-AU 1 6647201 6647202 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 6647278 6647278 single base substitution C T downstream_gene_variant MELA-AU 1 6647644 6647644 single base substitution G A downstream_gene_variant MELA-AU 1 6650570 6650570 single base substitution G T downstream_gene_variant MELA-AU 1 6651731 6651731 single base substitution G A 3_prime_UTR_variant MELA-AU 1 6651731 6651731 single base substitution G A downstream_gene_variant MELA-AU 1 6651740 6651740 single base substitution G A 3_prime_UTR_variant MELA-AU 1 6651740 6651740 single base substitution G A downstream_gene_variant MELA-AU 1 6652317 6652317 single base substitution G A 3_prime_UTR_variant MELA-AU 1 6652317 6652317 single base substitution G A downstream_gene_variant MELA-AU 1 6652831 6652831 single base substitution G A 3_prime_UTR_variant MELA-AU 1 6652831 6652831 single base substitution G A downstream_gene_variant MELA-AU 1 6653759 6653759 single base substitution G A 3_prime_UTR_variant MELA-AU 1 6653759 6653759 single base substitution G A downstream_gene_variant MELA-AU 1 6653759 6653759 single base substitution G A intron_variant MELA-AU 1 6653838 6653838 single base substitution C T 3_prime_UTR_variant MELA-AU 1 6653838 6653838 single base substitution C T downstream_gene_variant MELA-AU 1 6653838 6653838 single base substitution C T intron_variant MELA-AU 1 6654064 6654064 single base substitution G A 3_prime_UTR_variant MELA-AU 1 6654064 6654064 single base substitution G A downstream_gene_variant MELA-AU 1 6654064 6654064 single base substitution G A intron_variant MELA-AU 1 6655257 6655257 single base substitution A G 3_prime_UTR_variant MELA-AU 1 6655257 6655257 single base substitution A G intron_variant MELA-AU 1 6656144 6656144 single base substitution G A intron_variant MELA-AU 1 6656901 6656901 single base substitution G A intron_variant MELA-AU 1 6656929 6656929 single base substitution G A intron_variant MELA-AU 1 6657187 6657187 single base substitution A C intron_variant MELA-AU 1 6657444 6657444 single base substitution G A intron_variant MELA-AU 1 6657826 6657826 single base substitution G A intron_variant MELA-AU 1 6658195 6658195 single base substitution C T intron_variant MELA-AU 1 6658200 6658200 single base substitution G A intron_variant MELA-AU 1 6659125 6659125 single base substitution C T missense_variant G103E 308G>A MELA-AU 1 6659125 6659125 single base substitution C T missense_variant G470E 1409G>A MELA-AU 1 6659578 6659578 single base substitution G A intron_variant MELA-AU 1 6660714 6660714 single base substitution G A intron_variant MELA-AU 1 6660714 6660714 single base substitution G A upstream_gene_variant MELA-AU 1 6661030 6661030 single base substitution C T intron_variant MELA-AU 1 6661030 6661030 single base substitution C T upstream_gene_variant MELA-AU 1 6661386 6661386 single base substitution G A intron_variant MELA-AU 1 6661386 6661386 single base substitution G A upstream_gene_variant MELA-AU 1 6661634 6661635 multiple base substitution (>=2bp and <=200bp) GG TT intron_variant MELA-AU 1 6661634 6661635 multiple base substitution (>=2bp and <=200bp) GG TT upstream_gene_variant MELA-AU 1 6662013 6662013 single base substitution C A intron_variant MELA-AU 1 6662013 6662013 single base substitution C A missense_variant V289L 865G>T MELA-AU 1 6662013 6662013 single base substitution C A upstream_gene_variant MELA-AU 1 6662918 6662918 single base substitution C T 5_prime_UTR_variant MELA-AU 1 6662918 6662918 single base substitution C T intron_variant MELA-AU 1 6662918 6662918 single base substitution C T upstream_gene_variant MELA-AU 1 6663545 6663545 single base substitution G A intron_variant MELA-AU 1 6663545 6663545 single base substitution G A upstream_gene_variant MELA-AU 1 6664792 6664792 single base substitution A G intron_variant MELA-AU 1 6664792 6664792 single base substitution A G upstream_gene_variant MELA-AU 1 6666222 6666222 single base substitution G A intron_variant MELA-AU 1 6666222 6666222 single base substitution G A upstream_gene_variant MELA-AU 1 6666302 6666302 single base substitution G A intron_variant MELA-AU 1 6666302 6666302 single base substitution G A upstream_gene_variant MELA-AU 1 6666362 6666362 single base substitution T C intron_variant MELA-AU 1 6666362 6666362 single base substitution T C upstream_gene_variant MELA-AU 1 6666538 6666538 single base substitution C T intron_variant MELA-AU 1 6666538 6666538 single base substitution C T upstream_gene_variant MELA-AU 1 6666989 6666989 single base substitution C T intron_variant MELA-AU 1 6666989 6666989 single base substitution C T upstream_gene_variant MELA-AU 1 6667494 6667494 single base substitution G A intron_variant MELA-AU 1 6667494 6667494 single base substitution G A upstream_gene_variant MELA-AU 1 6667859 6667859 single base substitution C T intron_variant MELA-AU 1 6667859 6667859 single base substitution C T upstream_gene_variant MELA-AU 1 6668196 6668196 single base substitution G A intron_variant MELA-AU 1 6668297 6668297 single base substitution G A intron_variant MELA-AU 1 6668950 6668950 single base substitution G A intron_variant MELA-AU 1 6669849 6669849 single base substitution T G intron_variant MELA-AU 1 6670088 6670088 single base substitution T A intron_variant MELA-AU 1 6672262 6672262 single base substitution G A intron_variant MELA-AU 1 6672493 6672493 single base substitution G T intron_variant MELA-AU 1 6673596 6673596 single base substitution C T intron_variant MELA-AU 1 6673643 6673643 single base substitution C T intron_variant MELA-AU 1 6673648 6673648 single base substitution G A intron_variant MELA-AU 1 6673676 6673676 single base substitution C T intron_variant MELA-AU 1 6673740 6673740 single base substitution C T intron_variant MELA-AU 1 6673743 6673743 single base substitution C T intron_variant MELA-AU 1 6674282 6674282 single base substitution C T intron_variant MELA-AU 1 6674428 6674428 single base substitution C T intron_variant MELA-AU 1 6674992 6674993 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 6676747 6676747 single base substitution C T upstream_gene_variant MELA-AU 1 6676826 6676827 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 6676910 6676910 single base substitution C T upstream_gene_variant MELA-AU 1 6677212 6677212 single base substitution G A upstream_gene_variant MELA-AU 1 6677366 6677366 single base substitution G A upstream_gene_variant ORCA-IN 1 6646052 6646052 single base substitution G C downstream_gene_variant ORCA-IN 1 6655598 6655598 single base substitution C T missense_variant D116N 346G>A ORCA-IN 1 6655598 6655598 single base substitution C T missense_variant D483N 1447G>A ORCA-IN 1 6659597 6659597 single base substitution T A intron_variant ORCA-IN 1 6662054 6662054 single base substitution C A intron_variant ORCA-IN 1 6662054 6662054 single base substitution C A missense_variant R275L 824G>T ORCA-IN 1 6662054 6662054 single base substitution C A upstream_gene_variant ORCA-IN 1 6662541 6662541 single base substitution C A intron_variant ORCA-IN 1 6662541 6662541 single base substitution C A missense_variant A113S 337G>T ORCA-IN 1 6662541 6662541 single base substitution C A upstream_gene_variant OV-AU 1 6649708 6649708 single base substitution G C downstream_gene_variant OV-AU 1 6655059 6655059 single base substitution A C 3_prime_UTR_variant OV-AU 1 6655059 6655059 single base substitution A C intron_variant OV-AU 1 6658734 6658734 single base substitution A T intron_variant OV-AU 1 6663362 6663362 single base substitution G A intron_variant OV-AU 1 6663362 6663362 single base substitution G A upstream_gene_variant OV-AU 1 6668375 6668375 single base substitution G C intron_variant OV-AU 1 6669344 6669344 single base substitution C T intron_variant PACA-AU 1 6646758 6646758 single base substitution T C downstream_gene_variant PACA-AU 1 6647427 6647427 single base substitution G A downstream_gene_variant PACA-AU 1 6656122 6656122 single base substitution C A intron_variant PACA-AU 1 6661469 6661469 single base substitution G C intron_variant PACA-AU 1 6661469 6661469 single base substitution G C upstream_gene_variant PACA-AU 1 6663208 6663215 deletion of <=200bp GGCGGCCT - intron_variant PACA-AU 1 6663208 6663215 deletion of <=200bp GGCGGCCT - upstream_gene_variant PACA-AU 1 6678241 6678241 deletion of <=200bp C - upstream_gene_variant PACA-CA 1 6649362 6649362 single base substitution C A downstream_gene_variant PACA-CA 1 6651516 6651516 single base substitution C T 3_prime_UTR_variant PACA-CA 1 6651516 6651516 single base substitution C T downstream_gene_variant PACA-CA 1 6653230 6653230 single base substitution C T 3_prime_UTR_variant PACA-CA 1 6653230 6653230 single base substitution C T downstream_gene_variant PACA-CA 1 6653368 6653368 single base substitution C T 3_prime_UTR_variant PACA-CA 1 6653368 6653368 single base substitution C T downstream_gene_variant PACA-CA 1 6656120 6656120 single base substitution C A intron_variant PACA-CA 1 6656122 6656122 single base substitution C T intron_variant PACA-CA 1 6656537 6656537 single base substitution A T intron_variant PACA-CA 1 6658445 6658445 single base substitution C T intron_variant PACA-CA 1 6666168 6666168 single base substitution G A intron_variant PACA-CA 1 6666168 6666168 single base substitution G A upstream_gene_variant PACA-CA 1 6666918 6666918 single base substitution C T intron_variant PACA-CA 1 6666918 6666918 single base substitution C T upstream_gene_variant PACA-CA 1 6669205 6669205 single base substitution A T intron_variant PACA-CA 1 6673506 6673506 single base substitution C G intron_variant PACA-CA 1 6674070 6674070 single base substitution C T intron_variant PACA-CA 1 6677435 6677435 single base substitution C T upstream_gene_variant PACA-CA 1 6679498 6679498 single base substitution C T upstream_gene_variant PAEN-IT 1 6657731 6657731 single base substitution G C intron_variant PBCA-DE 1 6659155 6659155 single base substitution G T missense_variant S460Y 1379C>A PBCA-DE 1 6659155 6659155 single base substitution G T missense_variant S93Y 278C>A PBCA-DE 1 6660078 6660079 deletion of <=200bp AT - intron_variant PBCA-DE 1 6660078 6660079 deletion of <=200bp AT - upstream_gene_variant PRAD-CA 1 6662098 6662098 single base substitution G T intron_variant PRAD-CA 1 6662098 6662098 single base substitution G T missense_variant F260L 780C>A PRAD-CA 1 6662098 6662098 single base substitution G T upstream_gene_variant PRAD-UK 1 6651084 6651084 single base substitution G A 3_prime_UTR_variant PRAD-UK 1 6651084 6651084 single base substitution G A downstream_gene_variant PRAD-UK 1 6673733 6673733 deletion of <=200bp C - intron_variant PRAD-US 1 6648255 6648255 single base substitution A T downstream_gene_variant PRAD-US 1 6649154 6649154 single base substitution G A downstream_gene_variant PRAD-US 1 6659137 6659137 single base substitution G A missense_variant A466V 1397C>T PRAD-US 1 6659137 6659137 single base substitution G A missense_variant A99V 296C>T READ-US 1 6648899 6648899 single base substitution C T downstream_gene_variant READ-US 1 6649065 6649065 single base substitution C T downstream_gene_variant RECA-EU 1 6657456 6657456 single base substitution C A intron_variant RECA-EU 1 6660798 6660798 single base substitution G A intron_variant RECA-EU 1 6660798 6660798 single base substitution G A upstream_gene_variant RECA-EU 1 6669912 6669912 single base substitution C G intron_variant RECA-EU 1 6678286 6678286 single base substitution C A upstream_gene_variant RECA-EU 1 6678374 6678374 single base substitution G T upstream_gene_variant RECA-EU 1 6678419 6678419 single base substitution C A upstream_gene_variant SKCA-BR 1 6645860 6645860 single base substitution A C downstream_gene_variant SKCA-BR 1 6648942 6648942 single base substitution T C downstream_gene_variant SKCA-BR 1 6651251 6651251 single base substitution T G 3_prime_UTR_variant SKCA-BR 1 6651251 6651251 single base substitution T G downstream_gene_variant SKCA-BR 1 6655504 6655504 single base substitution A C intron_variant SKCA-BR 1 6655504 6655504 single base substitution A C missense_variant V514G 1541T>G SKCA-BR 1 6656564 6656564 single base substitution C A intron_variant SKCA-BR 1 6656568 6656568 single base substitution A C intron_variant SKCA-BR 1 6660242 6660242 single base substitution A G intron_variant SKCA-BR 1 6660242 6660242 single base substitution A G upstream_gene_variant SKCA-BR 1 6660683 6660683 single base substitution G A intron_variant SKCA-BR 1 6660683 6660683 single base substitution G A upstream_gene_variant SKCA-BR 1 6663365 6663365 single base substitution C T intron_variant SKCA-BR 1 6663365 6663365 single base substitution C T upstream_gene_variant SKCA-BR 1 6666377 6666377 insertion of <=200bp - AT intron_variant SKCA-BR 1 6666377 6666377 insertion of <=200bp - AT upstream_gene_variant SKCA-BR 1 6673314 6673314 single base substitution T C intron_variant SKCA-BR 1 6673740 6673740 single base substitution C T intron_variant SKCA-BR 1 6675478 6675478 single base substitution T G upstream_gene_variant SKCA-BR 1 6675613 6675613 single base substitution A C upstream_gene_variant SKCM-US 1 6648404 6648405 deletion of <=200bp AG - downstream_gene_variant SKCM-US 1 6649172 6649172 single base substitution C T downstream_gene_variant SKCM-US 1 6653669 6653669 single base substitution G A 3_prime_UTR_variant SKCM-US 1 6653669 6653669 single base substitution G A downstream_gene_variant SKCM-US 1 6653669 6653669 single base substitution G A missense_variant S150F 449C>T SKCM-US 1 6653669 6653669 single base substitution G A missense_variant S517F 1550C>T SKCM-US 1 6653691 6653691 single base substitution G A 3_prime_UTR_variant SKCM-US 1 6653691 6653691 single base substitution G A downstream_gene_variant SKCM-US 1 6653691 6653691 single base substitution G A missense_variant L143F 427C>T SKCM-US 1 6653691 6653691 single base substitution G A missense_variant L510F 1528C>T SKCM-US 1 6659204 6659204 single base substitution C T missense_variant D444N 1330G>A SKCM-US 1 6659204 6659204 single base substitution C T missense_variant D77N 229G>A STAD-US 1 6646027 6646027 single base substitution T C downstream_gene_variant STAD-US 1 6647651 6647651 single base substitution G A downstream_gene_variant STAD-US 1 6648463 6648463 single base substitution C T downstream_gene_variant STAD-US 1 6649079 6649079 single base substitution T C downstream_gene_variant STAD-US 1 6649173 6649173 single base substitution C T downstream_gene_variant STAD-US 1 6653565 6653567 deletion of <=200bp AGA - 3_prime_UTR_variant STAD-US 1 6653565 6653567 deletion of <=200bp AGA - disruptive_inframe_deletion FW184W STAD-US 1 6653565 6653567 deletion of <=200bp AGA - disruptive_inframe_deletion FW551W STAD-US 1 6653565 6653567 deletion of <=200bp AGA - downstream_gene_variant STAD-US 1 6653646 6653646 single base substitution C A 3_prime_UTR_variant STAD-US 1 6653646 6653646 single base substitution C A downstream_gene_variant STAD-US 1 6653646 6653646 single base substitution C A stop_gained E158* 472G>T STAD-US 1 6653646 6653646 single base substitution C A stop_gained E525* 1573G>T STAD-US 1 6653683 6653683 deletion of <=200bp C - 3_prime_UTR_variant STAD-US 1 6653683 6653683 deletion of <=200bp C - downstream_gene_variant STAD-US 1 6653683 6653683 deletion of <=200bp C - frameshift_variant G145 STAD-US 1 6653683 6653683 deletion of <=200bp C - frameshift_variant G512 STAD-US 1 6659214 6659214 single base substitution G A synonymous_variant C440C 1320C>T STAD-US 1 6659214 6659214 single base substitution G A synonymous_variant C73C 219C>T STAD-US 1 6659354 6659354 single base substitution G A missense_variant R27C 79C>T STAD-US 1 6659354 6659354 single base substitution G A missense_variant R394C 1180C>T STAD-US 1 6659390 6659390 single base substitution C T missense_variant G15R 43G>A STAD-US 1 6659390 6659390 single base substitution C T missense_variant G382R 1144G>A STAD-US 1 6659418 6659418 single base substitution G A synonymous_variant R372R 1116C>T STAD-US 1 6659418 6659418 single base substitution G A synonymous_variant R5R 15C>T STAD-US 1 6662470 6662470 single base substitution G A intron_variant STAD-US 1 6662470 6662470 single base substitution G A synonymous_variant A136A 408C>T STAD-US 1 6662470 6662470 single base substitution G A upstream_gene_variant STAD-US 1 6676920 6676920 single base substitution T C upstream_gene_variant UCEC-US 1 6653508 6653508 single base substitution G A 3_prime_UTR_variant UCEC-US 1 6653508 6653508 single base substitution G A downstream_gene_variant UCEC-US 1 6653508 6653508 single base substitution G A missense_variant R204C 610C>T UCEC-US 1 6653508 6653508 single base substitution G A missense_variant R571C 1711C>T UCEC-US 1 6653515 6653515 single base substitution C T 3_prime_UTR_variant UCEC-US 1 6653515 6653515 single base substitution C T downstream_gene_variant UCEC-US 1 6653515 6653515 single base substitution C T synonymous_variant S201S 603G>A UCEC-US 1 6653515 6653515 single base substitution C T synonymous_variant S568S 1704G>A UCEC-US 1 6653606 6653606 single base substitution C T 3_prime_UTR_variant UCEC-US 1 6653606 6653606 single base substitution C T downstream_gene_variant UCEC-US 1 6653606 6653606 single base substitution C T missense_variant R171H 512G>A UCEC-US 1 6653606 6653606 single base substitution C T missense_variant R538H 1613G>A UCEC-US 1 6653673 6653673 single base substitution C T 3_prime_UTR_variant UCEC-US 1 6653673 6653673 single base substitution C T downstream_gene_variant UCEC-US 1 6653673 6653673 single base substitution C T missense_variant V149I 445G>A UCEC-US 1 6653673 6653673 single base substitution C T missense_variant V516I 1546G>A UCEC-US 1 6653713 6653713 single base substitution A G 3_prime_UTR_variant UCEC-US 1 6653713 6653713 single base substitution A G downstream_gene_variant UCEC-US 1 6653713 6653713 single base substitution A G synonymous_variant H135H 405T>C UCEC-US 1 6653713 6653713 single base substitution A G synonymous_variant H502H 1506T>C UCEC-US 1 6655538 6655538 single base substitution A C missense_variant F503V 1507T>G UCEC-US 1 6655538 6655538 single base substitution A C splice_region_variant UCEC-US 1 6659480 6659480 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 1 6659480 6659480 single base substitution C T missense_variant V352M 1054G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand LUAD-S01331 COSM396494 c.1331A>T p.D444V Substitution - Missense 1:6599143-6599143 - TCGA-AP-A0LM-01 COSM911659 c.1546G>A p.V516I Substitution - Missense 1:6593613-6593613 - TCGA-A5-A0VP-01 COSM911657 c.1704G>A p.S568S Substitution - coding silent 1:6593455-6593455 - SW48 COSM4656214 c.359C>T p.A120V Substitution - Missense 1:6602459-6602459 - CHC1488T COSM3667573 c.821C>T p.P274L Substitution - Missense 1:6601997-6601997 - TLE43 COSM4167697 c.1346C>T p.S449L Substitution - Missense 1:6599128-6599128 - TCGA-BR-8363-01 COSM4009500 c.408C>T p.A136A Substitution - coding silent 1:6602410-6602410 - TCGA-CJ-4912-01 COSM464875 c.1494G>A p.M498I Substitution - Missense 1:6595491-6595491 - S0029 COSM5881777 c.796G>A p.D266N Substitution - Missense 1:6602022-6602022 - T3255 COSM4696485 c.1261C>T p.R421C Substitution - Missense 1:6599213-6599213 - I2L-P7-Tumor-Organoid COSM5353525 c.1482G>A p.K494K Substitution - coding silent 1:6595503-6595503 - H1155 COSM911656 c.1711C>T p.R571C Substitution - Missense 1:6593448-6593448 - TCGA-IN-8462-01 COSM4009495 c.1573G>T p.E525* Substitution - Nonsense 1:6593586-6593586 - TCGA-CC-A7IJ-01 COSM4924617 c.930G>T p.Q310H Substitution - Missense 1:6601888-6601888 - CSCC-62-T COSM4529384 c.1608G>A p.E536E Substitution - coding silent 1:6593551-6593551 - TCGA-A4-A6HP-01 COSM3985203 c.1355A>G p.D452G Substitution - Missense 1:6599119-6599119 - tumor_4135099 COSM5947117 c.789G>C p.A263A Substitution - coding silent 1:6602029-6602029 - 631076 COSM321277 c.1316A>C p.Q439P Substitution - Missense 1:6599158-6599158 - PTC-7C COSM426608 c.1029C>T p.S343S Substitution - coding silent 1:6599445-6599445 - TCGA-E2-A10F-01 COSM426607 c.1030G>A p.D344N Substitution - Missense 1:6599444-6599444 - C086 COSM5533465 c.1719C>T p.F573F Substitution - coding silent 1:6593440-6593440 - LIM2405 COSM4642037 c.1505A>G p.H502R Substitution - Missense 1:6593654-6593654 - sysucc-627T COSM5468134 c.1089G>A p.A363A Substitution - coding silent 1:6599385-6599385 - GB07 COSM1743661 c.1281C>T p.I427I Substitution - coding silent 1:6599193-6599193 - TCGA-F1-6177-01 COSM4009498 c.1144G>A p.G382R Substitution - Missense 1:6599330-6599330 - RKO COSM2239678 c.1536delG p.K513fs*18 Deletion - Frameshift 1:6593623-6593623 - TCGA-AZ-6607-01 COSM3689819 c.1196C>T p.T399I Substitution - Missense 1:6599278-6599278 - CPCG0158-F1 COSM4966285 c.780C>A p.F260L Substitution - Missense 1:6602038-6602038 - T3064 COSM4696484 c.1581G>A p.S527S Substitution - coding silent 1:6593578-6593578 - 23_tFL COSM4170660 c.199G>A p.G67R Substitution - Missense 1:6602619-6602619 - OSCC-GB_00980111 COSM4882138 c.337G>T p.A113S Substitution - Missense 1:6602481-6602481 - TCGA-BF-A3DM-01 COSM3866025 c.1550C>T p.S517F Substitution - Missense 1:6593609-6593609 - 442 COSM4434620 c.1237G>A p.D413N Substitution - Missense 1:6599237-6599237 - TCGA-B5-A11Y-01 COSM911658 c.1613G>A p.R538H Substitution - Missense 1:6593546-6593546 - TCGA-AX-A0J0-01 COSM911661 c.1500+7T>G p.? Unknown 1:6595478-6595478 - TCGA-AP-A059-01 COSM911662 c.1054G>A p.V352M Substitution - Missense 1:6599420-6599420 - T2932 COSM4696482 c.1720G>A p.E574K Substitution - Missense 1:6593439-6593439 - TCGA-EJ-5508-01 COSM1126956 c.1397C>T p.A466V Substitution - Missense 1:6599077-6599077 - ESO-153 COSM1255969 c.1585G>A p.V529M Substitution - Missense 1:6593574-6593574 - TCGA-BR-4256-01 COSM4009499 c.1116C>T p.R372R Substitution - coding silent 1:6599358-6599358 - Pat_34_A COSM5847215 c.1546_1547GT>AG p.V516S Substitution - Missense 1:6593612-6593613 - TCGA-EE-A29A-06 COSM3491906 c.1330G>A p.D444N Substitution - Missense 1:6599144-6599144 - 587338 COSM1212620 c.1075G>A p.V359M Substitution - Missense 1:6599399-6599399 - TCGA-CM-6162-01 COSM1343948 c.1514_1515insG p.S506fs*20 Insertion - Frameshift 1:6593644-6593645 - ICGC_MB68 COSM3764205 c.1379C>A p.S460Y Substitution - Missense 1:6599095-6599095 - OSCC-GB_01040111 COSM4886102 c.824G>T p.R275L Substitution - Missense 1:6601994-6601994 - 587256 COSM1212621 c.536C>T p.A179V Substitution - Missense 1:6602282-6602282 - TCGA-BR-A4QL-01 COSM4009496 c.1320C>T p.C440C Substitution - coding silent 1:6599154-6599154 - OSCC-GB_01370111 COSM5955698 c.1447G>A p.D483N Substitution - Missense 1:6595538-6595538 - ESCC_159 COSM5646987 c.94C>T p.R32C Substitution - Missense 1:6602724-6602724 - CSCC-31-T COSM4465508 c.1387C>T p.P463S Substitution - Missense 1:6599087-6599087 - T3090 COSM4696483 c.1687A>G p.M563V Substitution - Missense 1:6593472-6593472 - SS6003314 COSM4054997 c.955G>A p.E319K Substitution - Missense 1:6601863-6601863 - TCGA-AA-3492-01 COSM242553 c.1525G>A p.V509I Substitution - Missense 1:6593634-6593634 - 40M COSM5585622 c.126G>A p.A42A Substitution - coding silent 1:6602692-6602692 - T2944 COSM4696486 c.1098G>A p.A366A Substitution - coding silent 1:6599376-6599376 - TCGA-CG-5721-01 COSM4009497 c.1180C>T p.R394C Substitution - Missense 1:6599294-6599294 - ESCC_12 COSM5624783 c.1167C>A p.A389A Substitution - coding silent 1:6599307-6599307 - ESCC_159 COSM5646988 c.93G>A p.E31E Substitution - coding silent 1:6602725-6602725 - ESCC_112 COSM5649823 c.778T>A p.F260I Substitution - Missense 1:6602040-6602040 - S00936 COSM312370 c.1384G>A p.A462T Substitution - Missense 1:6599090-6599090 - PR-2762 COSM242553 c.1525G>A p.V509I Substitution - Missense 1:6593634-6593634 - LIM2405 COSM4642038 c.1181G>A p.R394H Substitution - Missense 1:6599293-6599293 - TCGA-AD-6895-01 COSM1343947 c.1633C>T p.R545W Substitution - Missense 1:6593526-6593526 - TCGA-DD-A118-01 COSM4937922 c.1009A>T p.I337F Substitution - Missense 1:6601809-6601809 - tumor_4144951 COSM5948846 c.958T>A p.F320I Substitution - Missense 1:6601860-6601860 - TCGA-CZ-4858-01 COSM3360983 c.972G>T p.L324L Substitution - coding silent 1:6601846-6601846 - tumor_4147081 COSM5949425 c.700C>T p.L234L Substitution - coding silent 1:6602118-6602118 - PASFXA COSM5005853 c.1398G>T p.A466A Substitution - coding silent 1:6599076-6599076 - LUAD-U6SJ7 COSM400219 c.299C>T p.A100V Substitution - Missense 1:6602519-6602519 - TCGA-FI-A2D2-01 COSM911660 c.1506T>C p.H502H Substitution - coding silent 1:6593653-6593653 - TCGA-EE-A3JB-06 COSM4898685 c.1528C>T p.L510F Substitution - Missense 1:6593631-6593631 - STC297 COSM5053653 c.1757G>A p.R586Q Substitution - Missense 1:6593402-6593402 - sysucc-783T COSM5484040 c.1165G>A p.A389T Substitution - Missense 1:6599309-6599309 - TCGA-AP-A0LE-01 COSM911656 c.1711C>T p.R571C Substitution - Missense 1:6593448-6593448 - tumor_4144951 COSM5948894 c.925C>G p.P309A Substitution - Missense 1:6601893-6601893 - QC2-36-T2 COSM5655198 c.396G>T p.Q132H Substitution - Missense 1:6602422-6602422 - pfg181T COSM4656214 c.359C>T p.A120V Substitution - Missense 1:6602459-6602459 - HX17T COSM1602629 c.1039C>T p.R347W Substitution - Missense 1:6599435-6599435 - tumor_4135099 COSM3774468 c.871G>T p.V291L Substitution - Missense 1:6601947-6601947 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.7753;Hs.7764 1p36.31 603420 2437012|CGAP|BC013383|A/G|non-coding||1789|Validated; 2437013|CGAP|BC013383|A/T|non-coding||1357|Validated; 2437023|CGAP|BC013383|A/G|coding|Arg4Gln|61|Candidate; 1511787|dbSNP|BC013383|A/T|non-coding||1357|Candidate; 2422431|dbSNP|BC013383|C/G|non-coding||1465|Validated; 2418238|CGAP|BC034039|C/T|non-coding||4177|Validated; 2418238|CGAP|BC091648|C/T|non-coding||4158|Validated; 1512395|dbSNP|BC034039|C/T|non-coding||4177|Validated; 1512395|dbSNP|BC091648|C/T|non-coding||4158|Validated; 2399305|dbSNP|BC034039|A/G|non-coding||3542|Validated; 2399305|dbSNP|BC091648|A/G|non-coding||3524|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C 3-UTRSNV . c.1791+1366T>G 1 6652062 HC - A Frameshift p.S497Vfs*29 c.1484dupT 1 6655561 LUAD A G Synonymous p.H502H c.1506T>C 1 6653713 UCEC C A Synonymous p.L324L c.972G>T 1 6661906 RCCC C A Synonymous p.P487P c.1461G>T 1 6655584 LUAD C - Frameshift p.G505Afs*26 c.1514delG 1 6653705 LUAD C T Missense p.A462T c.1384G>A 1 6659150 SCLC C T Missense p.D344N c.1030G>A 1 6659504 BRCA C T Missense p.D444N c.1330G>A 1 6659204 CM C T Missense p.G382R c.1144G>A 1 6659390 STAD C T Missense p.M498I c.1494G>A 1 6655551 RCCC C T Missense p.V529M c.1585G>A 1 6653634 ESCA C T Synonymous p.S568S c.1704G>A 1 6653515 UCEC G A 3-UTRSNV . c.1791+6C>T 1 6653422 CM G A IntronicSNV . c.1500+10C>T 1 6655535 CM G A Missense p.A466V c.1397C>T 1 6659137 PRAD G A Missense p.L510F c.1528C>T 1 6653691 CM G A Missense p.R571C c.1711C>T 1 6653508 UCEC G A Missense p.S449L c.1346C>T 1 6659188 ALL G A Missense p.S517F c.1550C>T 1 6653669 CM G A Synonymous p.F573F c.1719C>T 1 6653500 CM G A Synonymous p.R372R c.1116C>T 1 6659418 STAD T G Missense p.Q439P c.1316A>C 1 6659218 SCLC