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 10 27040664 27040664 + Missense_Mutation SNP G G A TCGA-OR-A5KV-01A-11D-A29I-10 TCGA-OR-A5KV-10A-01D-A29L-10 g.chr10:27040664G>A c.1214C>T c.(1213-1215)cCc>cTc p.P405L BLCA 10 27048155 27048155 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 g.chr10:27048155G>A c.914C>T c.(913-915)tCa>tTa p.S305L BLCA 10 27052865 27052865 + Missense_Mutation SNP G G T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 g.chr10:27052865G>T c.845C>A c.(844-846)tCt>tAt p.S282Y BLCA 10 27112207 27112207 + Missense_Mutation SNP C C T TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr10:27112207C>T c.145G>A c.(145-147)Gag>Aag p.E49K BLCA 10 27112231 27112231 + Missense_Mutation SNP T T C TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 g.chr10:27112231T>C c.121A>G c.(121-123)Aca>Gca p.T41A BLCA 10 27149698 27149698 + Missense_Mutation SNP T T C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 g.chr10:27149698T>C c.95A>G c.(94-96)tAc>tGc p.Y32C BRCA 10 27040638 27040638 + Missense_Mutation SNP G G A TCGA-BH-A0H9-01A-11W-A071-09 TCGA-BH-A0H9-11A-22W-A10F-09 g.chr10:27040638G>A c.1240C>T c.(1240-1242)Cca>Tca p.P414S BRCA 10 27048089 27048089 + Missense_Mutation SNP G G A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr10:27048089G>A c.980C>T c.(979-981)tCg>tTg p.S327L BRCA 10 27052815 27052815 + Missense_Mutation SNP C C A TCGA-E2-A14N-01A-31D-A135-09 TCGA-E2-A14N-10A-01D-A135-09 g.chr10:27052815C>A c.895G>T c.(895-897)Gtg>Ttg p.V299L CESC 10 27052880 27052880 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 g.chr10:27052880G>C c.830C>G c.(829-831)tCt>tGt p.S277C CESC 10 27112160 27112160 + Silent SNP T T C TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 g.chr10:27112160T>C c.192A>G c.(190-192)caA>caG p.Q64Q COAD 10 27037565 27037565 + Silent SNP G G A TCGA-AA-3837-01A-01W-0900-09 TCGA-AA-3837-10A-01W-0900-09 g.chr10:27037565G>A c.1461C>T c.(1459-1461)gtC>gtT p.V487V COAD 10 27040543 27040543 + Missense_Mutation SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr10:27040543C>A c.1335G>T c.(1333-1335)aaG>aaT p.K445N COAD 10 27040613 27040613 + Missense_Mutation SNP T T G TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr10:27040613T>G c.1265A>C c.(1264-1266)gAa>gCa p.E422A COAD 10 27112143 27112143 + Missense_Mutation SNP T T C TCGA-AA-A03J-01A-21W-A096-10 TCGA-AA-A03J-11A-11W-A096-10 g.chr10:27112143T>C c.209A>G c.(208-210)aAc>aGc p.N70S COADREAD 10 27037565 27037565 + Silent SNP G G A TCGA-AA-3837-01A-01W-0900-09 TCGA-AA-3837-10A-01W-0900-09 g.chr10:27037565G>A c.1461C>T c.(1459-1461)gtC>gtT p.V487V COADREAD 10 27040543 27040543 + Missense_Mutation SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr10:27040543C>A c.1335G>T c.(1333-1335)aaG>aaT p.K445N COADREAD 10 27040613 27040613 + Missense_Mutation SNP T T G TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr10:27040613T>G c.1265A>C c.(1264-1266)gAa>gCa p.E422A COADREAD 10 27048111 27048111 + Nonsense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr10:27048111G>A c.958C>T c.(958-960)Cga>Tga p.R320* COADREAD 10 27066141 27066141 + Silent SNP T T C TCGA-AH-6643-01A-11D-1826-10 TCGA-AH-6643-11A-01D-1826-10 g.chr10:27066141T>C c.315A>G c.(313-315)gcA>gcG p.A105A COADREAD 10 27112143 27112143 + Missense_Mutation SNP T T C TCGA-AA-A03J-01A-21W-A096-10 TCGA-AA-A03J-11A-11W-A096-10 g.chr10:27112143T>C c.209A>G c.(208-210)aAc>aGc p.N70S ESCA 10 27066072 27066072 + Silent SNP C C T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 g.chr10:27066072C>T c.384G>A c.(382-384)gcG>gcA p.A128A HNSC 10 27037639 27037639 + Missense_Mutation SNP C C T TCGA-CV-A6K2-01A-11D-A31L-08 TCGA-CV-A6K2-10A-01D-A31J-08 g.chr10:27037639C>T c.1387G>A c.(1387-1389)Gat>Aat p.D463N HNSC 10 27048143 27048143 + Missense_Mutation SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 g.chr10:27048143G>A c.926C>T c.(925-927)tCc>tTc p.S309F HNSC 10 27048155 27048155 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 g.chr10:27048155G>A c.914C>T c.(913-915)tCa>tTa p.S305L KIPAN 10 27054165 27054165 + Missense_Mutation SNP G G T TCGA-CJ-4903-01A-01D-1429-08 TCGA-CJ-4903-11A-01D-1429-08 g.chr10:27054165G>T c.802C>A c.(802-804)Cca>Aca p.P268T KIRC 10 27054165 27054165 + Missense_Mutation SNP G G T TCGA-CJ-4903-01A-01D-1429-08 TCGA-CJ-4903-11A-01D-1429-08 g.chr10:27054165G>T c.802C>A c.(802-804)Cca>Aca p.P268T LIHC 10 27044647 27044647 + Missense_Mutation SNP G G T TCGA-ES-A2HS-01A-11D-A183-10 TCGA-ES-A2HS-11A-11D-A183-10 g.chr10:27044647G>T c.1102C>A c.(1102-1104)Cct>Act p.P368T LUAD 10 27040623 27040624 + In_Frame_Ins INS - - TGG TCGA-86-A4JF-01A-11D-A24P-08 TCGA-86-A4JF-10A-01D-A24P-08 g.chr10:27040623_27040624insTGG c.1254_1255insCCA c.(1252-1257)ccagtg>ccaCCAgtg p.418_419insP LUAD 10 27048010 27048010 + Silent SNP T T A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 g.chr10:27048010T>A c.1059A>T c.(1057-1059)ccA>ccT p.P353P LUAD 10 27060003 27060003 + Splice_Site SNP C C A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 g.chr10:27060003C>A c.e4+1 LUAD 10 27112235 27112235 + Splice_Site SNP C C T TCGA-50-6590-01A-12D-1855-08 TCGA-50-6590-11A-01D-1855-08 g.chr10:27112235C>T c.e2-1 LUSC 10 27040691 27040691 + Missense_Mutation SNP G G A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 g.chr10:27040691G>A c.1187C>T c.(1186-1188)cCg>cTg p.P396L LUSC 10 27059274 27059275 + Splice_Site DNP GC GC AA TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 g.chr10:27059274_27059275GC>AA c.478_478GC>TT c.(478-480)GCca>TTcca p.A160F LUSC 10 27112098 27112098 + Missense_Mutation SNP C C T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 g.chr10:27112098C>T c.254G>A c.(253-255)aGa>aAa p.R85K OV 10 27044653 27044653 + Missense_Mutation SNP G G A TCGA-09-1673-01A-01W-0633-09 TCGA-09-1673-10A-01W-0633-09 g.chr10:27044653G>A c.1096C>T c.(1096-1098)Cct>Tct p.P366S PAAD 10 27149786 27149786 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr10:27149786C>T c.7G>A c.(7-9)Gag>Aag p.E3K PRAD 10 27048050 27048050 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr10:27048050G>A c.1019C>T c.(1018-1020)aCt>aTt p.T340I READ 10 27048111 27048111 + Nonsense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr10:27048111G>A c.958C>T c.(958-960)Cga>Tga p.R320* READ 10 27066141 27066141 + Silent SNP T T C TCGA-AH-6643-01A-11D-1826-10 TCGA-AH-6643-11A-01D-1826-10 g.chr10:27066141T>C c.315A>G c.(313-315)gcA>gcG p.A105A SKCM 10 27052863 27052863 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 g.chr10:27052863C>T c.847G>A c.(847-849)Gga>Aga p.G283R SKCM 10 27052880 27052880 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 g.chr10:27052880G>A c.830C>T c.(829-831)tCt>tTt p.S277F SKCM 10 27059205 27059205 + Missense_Mutation SNP T T C TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr10:27059205T>C c.547A>G c.(547-549)Agt>Ggt p.S183G SKCM 10 27059222 27059222 + Missense_Mutation SNP G G A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 g.chr10:27059222G>A c.530C>T c.(529-531)cCt>cTt p.P177L SKCM 10 27066037 27066037 + Missense_Mutation SNP G G A TCGA-EE-A29H-06A-12D-A197-08 TCGA-EE-A29H-10A-01D-A199-08 g.chr10:27066037G>A c.419C>T c.(418-420)cCt>cTt p.P140L SKCM 10 27149684 27149684 + Missense_Mutation SNP A A G TCGA-EE-A2MU-06A-21D-A196-08 TCGA-EE-A2MU-10A-01D-A198-08 g.chr10:27149684A>G c.109T>C c.(109-111)Tac>Cac p.Y37H

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 10 27149853 27149853 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant BLCA-CN 10 27149853 27149853 single base substitution G A upstream_gene_variant BLCA-US 10 27048155 27048155 single base substitution G A intron_variant BLCA-US 10 27048155 27048155 single base substitution G A missense_variant S272L 815C>T BLCA-US 10 27048155 27048155 single base substitution G A missense_variant S273L 818C>T BLCA-US 10 27048155 27048155 single base substitution G A missense_variant S277L 830C>T BLCA-US 10 27048155 27048155 single base substitution G A missense_variant S278L 833C>T BLCA-US 10 27048155 27048155 single base substitution G A missense_variant S279L 836C>T BLCA-US 10 27048155 27048155 single base substitution G A missense_variant S305L 914C>T BLCA-US 10 27048155 27048155 single base substitution G A missense_variant S306L 917C>T BLCA-US 10 27048155 27048155 single base substitution G A missense_variant S322L 965C>T BLCA-US 10 27052865 27052865 single base substitution G T intron_variant BLCA-US 10 27052865 27052865 single base substitution G T missense_variant S282Y 845C>A BLCA-US 10 27052865 27052865 single base substitution G T missense_variant S283Y 848C>A BLCA-US 10 27052865 27052865 single base substitution G T missense_variant S299Y 896C>A BLCA-US 10 27112231 27112231 single base substitution T C missense_variant T41A 121A>G BLCA-US 10 27112231 27112231 single base substitution T C missense_variant T58A 172A>G BLCA-US 10 27112231 27112231 single base substitution T C upstream_gene_variant BLCA-US 10 27149698 27149698 single base substitution T C missense_variant Y32C 95A>G BRCA-EU 10 27031049 27031049 single base substitution G A downstream_gene_variant BRCA-EU 10 27031516 27031516 insertion of <=200bp - T downstream_gene_variant BRCA-EU 10 27034539 27034539 single base substitution G A downstream_gene_variant BRCA-EU 10 27034646 27034646 single base substitution C T downstream_gene_variant BRCA-EU 10 27034918 27034918 insertion of <=200bp - T downstream_gene_variant BRCA-EU 10 27035045 27035045 single base substitution C T downstream_gene_variant BRCA-EU 10 27036320 27036320 single base substitution T A 3_prime_UTR_variant BRCA-EU 10 27036320 27036320 single base substitution T A downstream_gene_variant BRCA-EU 10 27037622 27037633 deletion of <=200bp CATAAATGACAG - inframe_deletion LSFM286 BRCA-EU 10 27037622 27037633 deletion of <=200bp CATAAATGACAG - inframe_deletion LSFM351 BRCA-EU 10 27037622 27037633 deletion of <=200bp CATAAATGACAG - inframe_deletion LSFM380 BRCA-EU 10 27037622 27037633 deletion of <=200bp CATAAATGACAG - inframe_deletion LSFM403 BRCA-EU 10 27037622 27037633 deletion of <=200bp CATAAATGACAG - inframe_deletion LSFM408 BRCA-EU 10 27037622 27037633 deletion of <=200bp CATAAATGACAG - inframe_deletion LSFM409 BRCA-EU 10 27037622 27037633 deletion of <=200bp CATAAATGACAG - inframe_deletion LSFM432 BRCA-EU 10 27037622 27037633 deletion of <=200bp CATAAATGACAG - inframe_deletion LSFM433 BRCA-EU 10 27037622 27037633 deletion of <=200bp CATAAATGACAG - inframe_deletion LSFM437 BRCA-EU 10 27037622 27037633 deletion of <=200bp CATAAATGACAG - inframe_deletion LSFM438 BRCA-EU 10 27037622 27037633 deletion of <=200bp CATAAATGACAG - inframe_deletion LSFM439 BRCA-EU 10 27037622 27037633 deletion of <=200bp CATAAATGACAG - inframe_deletion LSFM453 BRCA-EU 10 27037622 27037633 deletion of <=200bp CATAAATGACAG - inframe_deletion LSFM465 BRCA-EU 10 27037622 27037633 deletion of <=200bp CATAAATGACAG - inframe_deletion LSFM466 BRCA-EU 10 27039005 27039005 single base substitution A T intron_variant BRCA-EU 10 27039979 27039979 single base substitution G A intron_variant BRCA-EU 10 27040137 27040137 single base substitution C T intron_variant BRCA-EU 10 27041535 27041535 single base substitution A T intron_variant BRCA-EU 10 27041831 27041831 single base substitution C A intron_variant BRCA-EU 10 27043768 27043768 single base substitution G C intron_variant BRCA-EU 10 27043914 27043914 single base substitution G C intron_variant BRCA-EU 10 27044000 27044000 single base substitution G C intron_variant BRCA-EU 10 27044062 27044062 single base substitution C G intron_variant BRCA-EU 10 27044217 27044217 single base substitution G C intron_variant BRCA-EU 10 27044436 27044436 single base substitution C G intron_variant BRCA-EU 10 27045123 27045123 single base substitution C A intron_variant BRCA-EU 10 27045347 27045350 deletion of <=200bp TCAG - intron_variant BRCA-EU 10 27045708 27045708 single base substitution T C intron_variant BRCA-EU 10 27046369 27046369 single base substitution A G intron_variant BRCA-EU 10 27046591 27046591 deletion of <=200bp A - intron_variant BRCA-EU 10 27046789 27046789 single base substitution G C intron_variant BRCA-EU 10 27046991 27046991 single base substitution C G intron_variant BRCA-EU 10 27047684 27047684 deletion of <=200bp T - intron_variant BRCA-EU 10 27048356 27048356 deletion of <=200bp A - intron_variant BRCA-EU 10 27049013 27049013 single base substitution A T intron_variant BRCA-EU 10 27049677 27049677 single base substitution G C intron_variant BRCA-EU 10 27051560 27051560 single base substitution G A intron_variant BRCA-EU 10 27052207 27052207 single base substitution T C intron_variant BRCA-EU 10 27052812 27052812 single base substitution T G intron_variant BRCA-EU 10 27052812 27052812 single base substitution T G missense_variant I300L 898A>C BRCA-EU 10 27052812 27052812 single base substitution T G missense_variant I301L 901A>C BRCA-EU 10 27052812 27052812 single base substitution T G missense_variant I317L 949A>C BRCA-EU 10 27054034 27054034 single base substitution C G intron_variant BRCA-EU 10 27054297 27054297 deletion of <=200bp A - intron_variant BRCA-EU 10 27054935 27054935 single base substitution G C intron_variant BRCA-EU 10 27055098 27055098 single base substitution G A intron_variant BRCA-EU 10 27055359 27055359 single base substitution T A intron_variant BRCA-EU 10 27055524 27055524 single base substitution G A intron_variant BRCA-EU 10 27055641 27055641 single base substitution C T intron_variant BRCA-EU 10 27056300 27056300 single base substitution G A intron_variant BRCA-EU 10 27058043 27058043 single base substitution A C intron_variant BRCA-EU 10 27058463 27058463 single base substitution A T intron_variant BRCA-EU 10 27058470 27058473 deletion of <=200bp TGAT - intron_variant BRCA-EU 10 27060133 27060133 single base substitution C G intron_variant BRCA-EU 10 27061095 27061095 single base substitution G C downstream_gene_variant BRCA-EU 10 27061095 27061095 single base substitution G C intron_variant BRCA-EU 10 27061441 27061441 single base substitution T A downstream_gene_variant BRCA-EU 10 27061441 27061441 single base substitution T A intron_variant BRCA-EU 10 27062063 27062063 single base substitution G C downstream_gene_variant BRCA-EU 10 27062063 27062063 single base substitution G C intron_variant BRCA-EU 10 27062574 27062574 single base substitution G C downstream_gene_variant BRCA-EU 10 27062574 27062574 single base substitution G C intron_variant BRCA-EU 10 27064414 27064414 single base substitution A T downstream_gene_variant BRCA-EU 10 27064414 27064414 single base substitution A T intron_variant BRCA-EU 10 27066703 27066703 deletion of <=200bp A - intron_variant BRCA-EU 10 27067161 27067161 single base substitution T G intron_variant BRCA-EU 10 27067186 27067186 single base substitution G C intron_variant BRCA-EU 10 27068307 27068307 single base substitution T C intron_variant BRCA-EU 10 27068576 27068576 single base substitution A T intron_variant BRCA-EU 10 27068831 27068831 single base substitution C T intron_variant BRCA-EU 10 27069104 27069104 single base substitution A T intron_variant BRCA-EU 10 27069264 27069264 single base substitution C A intron_variant BRCA-EU 10 27069745 27069745 single base substitution G C intron_variant BRCA-EU 10 27070679 27070679 single base substitution A G intron_variant BRCA-EU 10 27070689 27070689 single base substitution C T intron_variant BRCA-EU 10 27072979 27072979 single base substitution C G intron_variant BRCA-EU 10 27073782 27073782 single base substitution C T intron_variant BRCA-EU 10 27074630 27074630 single base substitution G A intron_variant BRCA-EU 10 27074632 27074632 single base substitution C T intron_variant BRCA-EU 10 27075397 27075397 single base substitution C T intron_variant BRCA-EU 10 27075446 27075446 single base substitution G A intron_variant BRCA-EU 10 27075774 27075774 single base substitution T C intron_variant BRCA-EU 10 27075777 27075777 single base substitution C G intron_variant BRCA-EU 10 27077929 27077929 single base substitution A G intron_variant BRCA-EU 10 27079333 27079333 single base substitution A C intron_variant BRCA-EU 10 27079590 27079590 insertion of <=200bp - TA intron_variant BRCA-EU 10 27080625 27080625 deletion of <=200bp A - intron_variant BRCA-EU 10 27080722 27080722 insertion of <=200bp - A intron_variant BRCA-EU 10 27081006 27081006 single base substitution G A intron_variant BRCA-EU 10 27083036 27083036 single base substitution G A intron_variant BRCA-EU 10 27083265 27083265 single base substitution G C intron_variant BRCA-EU 10 27084154 27084154 single base substitution A T intron_variant BRCA-EU 10 27084169 27084169 single base substitution G T intron_variant BRCA-EU 10 27085386 27085386 single base substitution G A intron_variant BRCA-EU 10 27085578 27085578 single base substitution G C intron_variant BRCA-EU 10 27086347 27086347 single base substitution T C intron_variant BRCA-EU 10 27086952 27086952 single base substitution A C intron_variant BRCA-EU 10 27087238 27087238 deletion of <=200bp G - intron_variant BRCA-EU 10 27087737 27087737 single base substitution C G intron_variant BRCA-EU 10 27088560 27088560 single base substitution G C intron_variant BRCA-EU 10 27089371 27089371 single base substitution C T intron_variant BRCA-EU 10 27089431 27089431 single base substitution G A intron_variant BRCA-EU 10 27091120 27091120 single base substitution A G intron_variant BRCA-EU 10 27092822 27092822 single base substitution T A intron_variant BRCA-EU 10 27093100 27093100 single base substitution T C intron_variant BRCA-EU 10 27093312 27093312 single base substitution A T intron_variant BRCA-EU 10 27094352 27094352 single base substitution A C intron_variant BRCA-EU 10 27094472 27094472 single base substitution G C intron_variant BRCA-EU 10 27096054 27096054 single base substitution C T intron_variant BRCA-EU 10 27097017 27097017 insertion of <=200bp - A intron_variant BRCA-EU 10 27097534 27097534 single base substitution C G intron_variant BRCA-EU 10 27099210 27099210 single base substitution G T intron_variant BRCA-EU 10 27099338 27099338 deletion of <=200bp A - intron_variant BRCA-EU 10 27099434 27099434 single base substitution G C intron_variant BRCA-EU 10 27099547 27099547 single base substitution G T intron_variant BRCA-EU 10 27099974 27099974 single base substitution G C intron_variant BRCA-EU 10 27100499 27100499 single base substitution G A intron_variant BRCA-EU 10 27101215 27101215 single base substitution C G intron_variant BRCA-EU 10 27103655 27103655 single base substitution G T intron_variant BRCA-EU 10 27104409 27104409 single base substitution A C intron_variant BRCA-EU 10 27104419 27104419 single base substitution A T intron_variant BRCA-EU 10 27104447 27104447 insertion of <=200bp - AAAC intron_variant BRCA-EU 10 27105057 27105057 single base substitution G A intron_variant BRCA-EU 10 27105194 27105194 single base substitution G T intron_variant BRCA-EU 10 27105195 27105195 single base substitution A T intron_variant BRCA-EU 10 27108140 27108140 insertion of <=200bp - C intron_variant BRCA-EU 10 27108171 27108171 single base substitution C G intron_variant BRCA-EU 10 27108620 27108620 single base substitution T C intron_variant BRCA-EU 10 27108717 27108717 deletion of <=200bp G - intron_variant BRCA-EU 10 27108879 27108879 deletion of <=200bp C - intron_variant BRCA-EU 10 27108959 27108959 single base substitution G T intron_variant BRCA-EU 10 27108973 27108973 single base substitution G C intron_variant BRCA-EU 10 27110157 27110157 single base substitution G C intron_variant BRCA-EU 10 27112031 27112031 single base substitution T C intron_variant BRCA-EU 10 27114233 27114233 single base substitution T C intron_variant BRCA-EU 10 27114233 27114233 single base substitution T C upstream_gene_variant BRCA-EU 10 27114286 27114286 single base substitution C G intron_variant BRCA-EU 10 27114286 27114286 single base substitution C G upstream_gene_variant BRCA-EU 10 27116034 27116034 single base substitution G C intron_variant BRCA-EU 10 27116034 27116034 single base substitution G C upstream_gene_variant BRCA-EU 10 27116134 27116134 single base substitution G A intron_variant BRCA-EU 10 27116134 27116134 single base substitution G A upstream_gene_variant BRCA-EU 10 27116890 27116890 single base substitution C T intron_variant BRCA-EU 10 27116890 27116890 single base substitution C T upstream_gene_variant BRCA-EU 10 27117931 27117931 single base substitution G A intron_variant BRCA-EU 10 27117980 27117980 single base substitution C T intron_variant BRCA-EU 10 27118353 27118353 single base substitution T A intron_variant BRCA-EU 10 27118540 27118540 single base substitution C T intron_variant BRCA-EU 10 27120477 27120477 deletion of <=200bp A - intron_variant BRCA-EU 10 27121691 27121691 single base substitution G A intron_variant BRCA-EU 10 27121772 27121772 single base substitution T A intron_variant BRCA-EU 10 27121950 27121950 single base substitution A C intron_variant BRCA-EU 10 27122539 27122539 single base substitution A T intron_variant BRCA-EU 10 27122608 27122608 single base substitution G A intron_variant BRCA-EU 10 27123039 27123039 single base substitution A T intron_variant BRCA-EU 10 27123885 27123885 single base substitution A T intron_variant BRCA-EU 10 27124847 27124847 deletion of <=200bp T - intron_variant BRCA-EU 10 27125252 27125252 single base substitution G A intron_variant BRCA-EU 10 27125542 27125542 single base substitution C T intron_variant BRCA-EU 10 27126263 27126263 single base substitution A G intron_variant BRCA-EU 10 27126413 27126413 deletion of <=200bp G - intron_variant BRCA-EU 10 27127958 27127958 single base substitution G C intron_variant BRCA-EU 10 27128443 27128443 deletion of <=200bp A - intron_variant BRCA-EU 10 27130297 27130297 single base substitution A C intron_variant BRCA-EU 10 27130849 27130849 single base substitution G A intron_variant BRCA-EU 10 27131534 27131534 single base substitution G A intron_variant BRCA-EU 10 27132327 27132327 single base substitution G A intron_variant BRCA-EU 10 27134113 27134113 single base substitution T C intron_variant BRCA-EU 10 27135104 27135104 single base substitution C T intron_variant BRCA-EU 10 27135378 27135378 single base substitution T G intron_variant BRCA-EU 10 27135611 27135611 insertion of <=200bp - A intron_variant BRCA-EU 10 27136082 27136082 single base substitution C T intron_variant BRCA-EU 10 27136554 27136554 deletion of <=200bp A - intron_variant BRCA-EU 10 27136657 27136657 single base substitution G T intron_variant BRCA-EU 10 27138061 27138061 single base substitution G A intron_variant BRCA-EU 10 27138239 27138239 single base substitution C A intron_variant BRCA-EU 10 27138722 27138722 single base substitution C G intron_variant BRCA-EU 10 27138746 27138746 deletion of <=200bp T - intron_variant BRCA-EU 10 27139433 27139433 insertion of <=200bp - A intron_variant BRCA-EU 10 27139623 27139623 single base substitution C A intron_variant BRCA-EU 10 27140455 27140455 single base substitution G A intron_variant BRCA-EU 10 27140838 27140838 single base substitution G C intron_variant BRCA-EU 10 27141137 27141137 single base substitution G A intron_variant BRCA-EU 10 27142386 27142386 insertion of <=200bp - A intron_variant BRCA-EU 10 27144014 27144014 single base substitution A G intron_variant BRCA-EU 10 27144147 27144147 single base substitution A G intron_variant BRCA-EU 10 27144331 27144339 deletion of <=200bp AGCCTATGG - intron_variant BRCA-EU 10 27144819 27144819 single base substitution G C intron_variant BRCA-EU 10 27145151 27145151 single base substitution G A intron_variant BRCA-EU 10 27146362 27146362 single base substitution G A intron_variant BRCA-EU 10 27146404 27146404 single base substitution T C intron_variant BRCA-EU 10 27147183 27147183 single base substitution C T intron_variant BRCA-EU 10 27148174 27148174 insertion of <=200bp - A intron_variant BRCA-EU 10 27148676 27148676 single base substitution G A intron_variant BRCA-EU 10 27150064 27150064 single base substitution T C upstream_gene_variant BRCA-EU 10 27150222 27150222 single base substitution A C upstream_gene_variant BRCA-EU 10 27150925 27150925 single base substitution G T upstream_gene_variant BRCA-EU 10 27152681 27152681 single base substitution C T upstream_gene_variant BRCA-EU 10 27153247 27153247 single base substitution C A upstream_gene_variant BRCA-EU 10 27153438 27153438 single base substitution G A upstream_gene_variant BRCA-EU 10 27153835 27153835 single base substitution G C upstream_gene_variant BRCA-EU 10 27154609 27154609 single base substitution G A upstream_gene_variant BRCA-EU 10 27154691 27154691 single base substitution C T upstream_gene_variant BRCA-EU 10 27154849 27154849 single base substitution G A upstream_gene_variant BRCA-FR 10 27035740 27035740 single base substitution A G 3_prime_UTR_variant BRCA-FR 10 27035740 27035740 single base substitution A G downstream_gene_variant BRCA-FR 10 27041535 27041535 single base substitution A T intron_variant BRCA-FR 10 27045708 27045708 single base substitution T C intron_variant BRCA-FR 10 27055524 27055524 single base substitution G A intron_variant BRCA-FR 10 27075446 27075446 single base substitution G A intron_variant BRCA-FR 10 27075777 27075777 single base substitution C G intron_variant BRCA-FR 10 27079941 27079941 single base substitution A G intron_variant BRCA-FR 10 27080913 27080913 single base substitution G A intron_variant BRCA-FR 10 27081006 27081006 single base substitution G A intron_variant BRCA-FR 10 27083036 27083036 single base substitution G A intron_variant BRCA-FR 10 27083265 27083265 single base substitution G C intron_variant BRCA-FR 10 27084169 27084169 single base substitution G T intron_variant BRCA-FR 10 27089371 27089371 single base substitution C T intron_variant BRCA-FR 10 27097534 27097534 single base substitution C G intron_variant BRCA-FR 10 27105194 27105194 single base substitution G T intron_variant BRCA-FR 10 27114233 27114233 single base substitution T C intron_variant BRCA-FR 10 27114233 27114233 single base substitution T C upstream_gene_variant BRCA-FR 10 27114584 27114584 single base substitution C G intron_variant BRCA-FR 10 27114584 27114584 single base substitution C G upstream_gene_variant BRCA-FR 10 27130297 27130297 single base substitution A C intron_variant BRCA-FR 10 27132327 27132327 single base substitution G A intron_variant BRCA-FR 10 27138239 27138239 single base substitution C A intron_variant BRCA-FR 10 27148147 27148147 single base substitution C T intron_variant BRCA-FR 10 27152987 27152987 single base substitution T G upstream_gene_variant BRCA-FR 10 27153835 27153835 single base substitution G C upstream_gene_variant BRCA-KR 10 27048015 27048015 single base substitution C T intron_variant BRCA-KR 10 27048015 27048015 single base substitution C T missense_variant G319S 955G>A BRCA-KR 10 27048015 27048015 single base substitution C T missense_variant G320S 958G>A BRCA-KR 10 27048015 27048015 single base substitution C T missense_variant G324S 970G>A BRCA-KR 10 27048015 27048015 single base substitution C T missense_variant G325S 973G>A BRCA-KR 10 27048015 27048015 single base substitution C T missense_variant G326S 976G>A BRCA-KR 10 27048015 27048015 single base substitution C T missense_variant G352S 1054G>A BRCA-KR 10 27048015 27048015 single base substitution C T missense_variant G353S 1057G>A BRCA-KR 10 27048015 27048015 single base substitution C T missense_variant G369S 1105G>A BRCA-UK 10 27044380 27044380 single base substitution G A intron_variant BRCA-UK 10 27052207 27052207 single base substitution T C intron_variant BRCA-UK 10 27089307 27089307 single base substitution G A intron_variant BRCA-UK 10 27094472 27094472 single base substitution G C intron_variant BRCA-UK 10 27096224 27096224 single base substitution G A intron_variant BRCA-UK 10 27144819 27144819 single base substitution G C intron_variant BRCA-US 10 27040638 27040638 single base substitution G A missense_variant P235S 703C>T BRCA-US 10 27040638 27040638 single base substitution G A missense_variant P300S 898C>T BRCA-US 10 27040638 27040638 single base substitution G A missense_variant P329S 985C>T BRCA-US 10 27040638 27040638 single base substitution G A missense_variant P352S 1054C>T BRCA-US 10 27040638 27040638 single base substitution G A missense_variant P357S 1069C>T BRCA-US 10 27040638 27040638 single base substitution G A missense_variant P358S 1072C>T BRCA-US 10 27040638 27040638 single base substitution G A missense_variant P381S 1141C>T BRCA-US 10 27040638 27040638 single base substitution G A missense_variant P382S 1144C>T BRCA-US 10 27040638 27040638 single base substitution G A missense_variant P386S 1156C>T BRCA-US 10 27040638 27040638 single base substitution G A missense_variant P387S 1159C>T BRCA-US 10 27040638 27040638 single base substitution G A missense_variant P388S 1162C>T BRCA-US 10 27040638 27040638 single base substitution G A missense_variant P402S 1204C>T BRCA-US 10 27040638 27040638 single base substitution G A missense_variant P414S 1240C>T BRCA-US 10 27040638 27040638 single base substitution G A missense_variant P415S 1243C>T BRCA-US 10 27048089 27048089 single base substitution G A intron_variant BRCA-US 10 27048089 27048089 single base substitution G A missense_variant S294L 881C>T BRCA-US 10 27048089 27048089 single base substitution G A missense_variant S295L 884C>T BRCA-US 10 27048089 27048089 single base substitution G A missense_variant S299L 896C>T BRCA-US 10 27048089 27048089 single base substitution G A missense_variant S300L 899C>T BRCA-US 10 27048089 27048089 single base substitution G A missense_variant S301L 902C>T BRCA-US 10 27048089 27048089 single base substitution G A missense_variant S327L 980C>T BRCA-US 10 27048089 27048089 single base substitution G A missense_variant S328L 983C>T BRCA-US 10 27048089 27048089 single base substitution G A missense_variant S344L 1031C>T BRCA-US 10 27052815 27052815 single base substitution C A intron_variant BRCA-US 10 27052815 27052815 single base substitution C A missense_variant V299L 895G>T BRCA-US 10 27052815 27052815 single base substitution C A missense_variant V300L 898G>T BRCA-US 10 27052815 27052815 single base substitution C A missense_variant V316L 946G>T BTCA-JP 10 27048111 27048111 single base substitution G A intron_variant BTCA-JP 10 27048111 27048111 single base substitution G A stop_gained R287* 859C>T BTCA-JP 10 27048111 27048111 single base substitution G A stop_gained R288* 862C>T BTCA-JP 10 27048111 27048111 single base substitution G A stop_gained R292* 874C>T BTCA-JP 10 27048111 27048111 single base substitution G A stop_gained R293* 877C>T BTCA-JP 10 27048111 27048111 single base substitution G A stop_gained R294* 880C>T BTCA-JP 10 27048111 27048111 single base substitution G A stop_gained R320* 958C>T BTCA-JP 10 27048111 27048111 single base substitution G A stop_gained R321* 961C>T BTCA-JP 10 27048111 27048111 single base substitution G A stop_gained R337* 1009C>T BTCA-JP 10 27054263 27054263 single base substitution A C intron_variant BTCA-JP 10 27128595 27128595 single base substitution A T intron_variant BTCA-JP 10 27149903 27149903 single base substitution C G 5_prime_UTR_variant BTCA-JP 10 27149903 27149903 single base substitution C G upstream_gene_variant CESC-US 10 27052880 27052880 single base substitution G C intron_variant CESC-US 10 27052880 27052880 single base substitution G C missense_variant S277C 830C>G CESC-US 10 27052880 27052880 single base substitution G C missense_variant S278C 833C>G CESC-US 10 27052880 27052880 single base substitution G C missense_variant S294C 881C>G CESC-US 10 27112160 27112160 single base substitution T C exon_variant CESC-US 10 27112160 27112160 single base substitution T C synonymous_variant Q64Q 192A>G CESC-US 10 27112160 27112160 single base substitution T C synonymous_variant Q81Q 243A>G CLLE-ES 10 27059033 27059033 single base substitution T C intron_variant CLLE-ES 10 27061956 27061956 single base substitution T A downstream_gene_variant CLLE-ES 10 27061956 27061956 single base substitution T A intron_variant CLLE-ES 10 27062002 27062002 single base substitution T C downstream_gene_variant CLLE-ES 10 27062002 27062002 single base substitution T C intron_variant CLLE-ES 10 27074050 27074050 single base substitution T C intron_variant CLLE-ES 10 27093765 27093765 single base substitution A T intron_variant CLLE-ES 10 27120785 27120785 single base substitution G A intron_variant CLLE-ES 10 27146732 27146732 single base substitution C T intron_variant COAD-US 10 27040543 27040543 single base substitution C A missense_variant K266N 798G>T COAD-US 10 27040543 27040543 single base substitution C A missense_variant K331N 993G>T COAD-US 10 27040543 27040543 single base substitution C A missense_variant K360N 1080G>T COAD-US 10 27040543 27040543 single base substitution C A missense_variant K383N 1149G>T COAD-US 10 27040543 27040543 single base substitution C A missense_variant K388N 1164G>T COAD-US 10 27040543 27040543 single base substitution C A missense_variant K389N 1167G>T COAD-US 10 27040543 27040543 single base substitution C A missense_variant K412N 1236G>T COAD-US 10 27040543 27040543 single base substitution C A missense_variant K413N 1239G>T COAD-US 10 27040543 27040543 single base substitution C A missense_variant K417N 1251G>T COAD-US 10 27040543 27040543 single base substitution C A missense_variant K418N 1254G>T COAD-US 10 27040543 27040543 single base substitution C A missense_variant K419N 1257G>T COAD-US 10 27040543 27040543 single base substitution C A missense_variant K433N 1299G>T COAD-US 10 27040543 27040543 single base substitution C A missense_variant K445N 1335G>T COAD-US 10 27040543 27040543 single base substitution C A missense_variant K446N 1338G>T COAD-US 10 27048160 27048160 single base substitution C T intron_variant COAD-US 10 27048160 27048160 single base substitution C T synonymous_variant P270P 810G>A COAD-US 10 27048160 27048160 single base substitution C T synonymous_variant P271P 813G>A COAD-US 10 27048160 27048160 single base substitution C T synonymous_variant P275P 825G>A COAD-US 10 27048160 27048160 single base substitution C T synonymous_variant P276P 828G>A COAD-US 10 27048160 27048160 single base substitution C T synonymous_variant P277P 831G>A COAD-US 10 27048160 27048160 single base substitution C T synonymous_variant P303P 909G>A COAD-US 10 27048160 27048160 single base substitution C T synonymous_variant P304P 912G>A COAD-US 10 27048160 27048160 single base substitution C T synonymous_variant P320P 960G>A COCA-CN 10 27035310 27035310 single base substitution G A downstream_gene_variant COCA-CN 10 27044717 27044717 single base substitution A G intron_variant COCA-CN 10 27056065 27056065 single base substitution T C intron_variant COCA-CN 10 27057931 27057931 single base substitution C T intron_variant COCA-CN 10 27059137 27059137 single base substitution A G intron_variant COCA-CN 10 27059912 27059912 single base substitution A C intron_variant COCA-CN 10 27063497 27063497 single base substitution C T downstream_gene_variant COCA-CN 10 27063497 27063497 single base substitution C T intron_variant COCA-CN 10 27066006 27066006 single base substitution G A exon_variant COCA-CN 10 27066006 27066006 single base substitution G A intron_variant COCA-CN 10 27066006 27066006 single base substitution G A synonymous_variant G150G 450C>T COCA-CN 10 27066006 27066006 single base substitution G A synonymous_variant G167G 501C>T COCA-CN 10 27066139 27066139 single base substitution C T exon_variant COCA-CN 10 27066139 27066139 single base substitution C T intron_variant COCA-CN 10 27066139 27066139 single base substitution C T missense_variant R106Q 317G>A COCA-CN 10 27066139 27066139 single base substitution C T missense_variant R123Q 368G>A COCA-CN 10 27075162 27075162 single base substitution T C intron_variant COCA-CN 10 27098198 27098198 single base substitution A C intron_variant COCA-CN 10 27100702 27100702 single base substitution G A intron_variant COCA-CN 10 27120548 27120548 single base substitution G C intron_variant COCA-CN 10 27124030 27124030 single base substitution A C intron_variant COCA-CN 10 27126732 27126732 single base substitution C T intron_variant COCA-CN 10 27128740 27128740 single base substitution C A intron_variant COCA-CN 10 27147482 27147482 single base substitution A C intron_variant EOPC-DE 10 27072379 27072379 single base substitution A G intron_variant EOPC-DE 10 27072400 27072400 single base substitution A T intron_variant EOPC-DE 10 27096538 27096538 single base substitution C T intron_variant EOPC-DE 10 27102322 27102322 single base substitution C A intron_variant ESAD-UK 10 27031788 27031788 single base substitution G T downstream_gene_variant ESAD-UK 10 27034103 27034103 single base substitution T A downstream_gene_variant ESAD-UK 10 27034918 27034918 insertion of <=200bp - T downstream_gene_variant ESAD-UK 10 27036699 27036699 single base substitution A T 3_prime_UTR_variant ESAD-UK 10 27036699 27036699 single base substitution A T downstream_gene_variant ESAD-UK 10 27037603 27037603 single base substitution C G missense_variant V296L 886G>C ESAD-UK 10 27037603 27037603 single base substitution C G missense_variant V361L 1081G>C ESAD-UK 10 27037603 27037603 single base substitution C G missense_variant V390L 1168G>C ESAD-UK 10 27037603 27037603 single base substitution C G missense_variant V413L 1237G>C ESAD-UK 10 27037603 27037603 single base substitution C G missense_variant V418L 1252G>C ESAD-UK 10 27037603 27037603 single base substitution C G missense_variant V419L 1255G>C ESAD-UK 10 27037603 27037603 single base substitution C G missense_variant V442L 1324G>C ESAD-UK 10 27037603 27037603 single base substitution C G missense_variant V443L 1327G>C ESAD-UK 10 27037603 27037603 single base substitution C G missense_variant V447L 1339G>C ESAD-UK 10 27037603 27037603 single base substitution C G missense_variant V448L 1342G>C ESAD-UK 10 27037603 27037603 single base substitution C G missense_variant V449L 1345G>C ESAD-UK 10 27037603 27037603 single base substitution C G missense_variant V463L 1387G>C ESAD-UK 10 27037603 27037603 single base substitution C G missense_variant V475L 1423G>C ESAD-UK 10 27037603 27037603 single base substitution C G missense_variant V476L 1426G>C ESAD-UK 10 27037604 27037604 single base substitution A T stop_gained Y295* 885T>A ESAD-UK 10 27037604 27037604 single base substitution A T stop_gained Y360* 1080T>A ESAD-UK 10 27037604 27037604 single base substitution A T stop_gained Y389* 1167T>A ESAD-UK 10 27037604 27037604 single base substitution A T stop_gained Y412* 1236T>A ESAD-UK 10 27037604 27037604 single base substitution A T stop_gained Y417* 1251T>A ESAD-UK 10 27037604 27037604 single base substitution A T stop_gained Y418* 1254T>A ESAD-UK 10 27037604 27037604 single base substitution A T stop_gained Y441* 1323T>A ESAD-UK 10 27037604 27037604 single base substitution A T stop_gained Y442* 1326T>A ESAD-UK 10 27037604 27037604 single base substitution A T stop_gained Y446* 1338T>A ESAD-UK 10 27037604 27037604 single base substitution A T stop_gained Y447* 1341T>A ESAD-UK 10 27037604 27037604 single base substitution A T stop_gained Y448* 1344T>A ESAD-UK 10 27037604 27037604 single base substitution A T stop_gained Y462* 1386T>A ESAD-UK 10 27037604 27037604 single base substitution A T stop_gained Y474* 1422T>A ESAD-UK 10 27037604 27037604 single base substitution A T stop_gained Y475* 1425T>A ESAD-UK 10 27038166 27038166 single base substitution T A intron_variant ESAD-UK 10 27038534 27038534 single base substitution A G intron_variant ESAD-UK 10 27038543 27038543 single base substitution G C intron_variant ESAD-UK 10 27044631 27044631 single base substitution G A intron_variant ESAD-UK 10 27044631 27044631 single base substitution G A missense_variant T288I 863C>T ESAD-UK 10 27044631 27044631 single base substitution G A missense_variant T340I 1019C>T ESAD-UK 10 27044631 27044631 single base substitution G A missense_variant T341I 1022C>T ESAD-UK 10 27044631 27044631 single base substitution G A missense_variant T345I 1034C>T ESAD-UK 10 27044631 27044631 single base substitution G A missense_variant T346I 1037C>T ESAD-UK 10 27044631 27044631 single base substitution G A missense_variant T347I 1040C>T ESAD-UK 10 27044631 27044631 single base substitution G A missense_variant T373I 1118C>T ESAD-UK 10 27044631 27044631 single base substitution G A missense_variant T374I 1121C>T ESAD-UK 10 27047719 27047719 single base substitution G A intron_variant ESAD-UK 10 27051707 27051707 single base substitution G A intron_variant ESAD-UK 10 27054297 27054297 single base substitution A T intron_variant ESAD-UK 10 27054322 27054322 single base substitution C A intron_variant ESAD-UK 10 27055752 27055752 single base substitution C A intron_variant ESAD-UK 10 27058069 27058069 single base substitution C A intron_variant ESAD-UK 10 27058371 27058371 single base substitution A C intron_variant ESAD-UK 10 27059564 27059564 single base substitution C T intron_variant ESAD-UK 10 27060038 27060038 deletion of <=200bp G - intron_variant ESAD-UK 10 27060127 27060127 deletion of <=200bp T - intron_variant ESAD-UK 10 27063739 27063739 single base substitution T G downstream_gene_variant ESAD-UK 10 27063739 27063739 single base substitution T G intron_variant ESAD-UK 10 27064703 27064703 insertion of <=200bp - T downstream_gene_variant ESAD-UK 10 27064703 27064703 insertion of <=200bp - T intron_variant ESAD-UK 10 27070611 27070611 single base substitution A G intron_variant ESAD-UK 10 27071571 27071571 single base substitution G C intron_variant ESAD-UK 10 27072394 27072394 single base substitution T A intron_variant ESAD-UK 10 27072403 27072403 single base substitution T A intron_variant ESAD-UK 10 27076978 27076978 single base substitution C T intron_variant ESAD-UK 10 27080009 27080009 single base substitution A C intron_variant ESAD-UK 10 27080277 27080277 deletion of <=200bp A - intron_variant ESAD-UK 10 27081224 27081224 single base substitution C T intron_variant ESAD-UK 10 27082537 27082537 single base substitution T C intron_variant ESAD-UK 10 27083127 27083127 single base substitution G A intron_variant ESAD-UK 10 27083465 27083465 single base substitution G A intron_variant ESAD-UK 10 27084066 27084066 single base substitution G C intron_variant ESAD-UK 10 27087238 27087238 insertion of <=200bp - G intron_variant ESAD-UK 10 27088656 27088656 single base substitution A C intron_variant ESAD-UK 10 27089215 27089215 single base substitution G A intron_variant ESAD-UK 10 27090075 27090075 single base substitution C T intron_variant ESAD-UK 10 27092466 27092466 single base substitution T A intron_variant ESAD-UK 10 27096484 27096484 single base substitution G A intron_variant ESAD-UK 10 27099929 27099929 single base substitution A C intron_variant ESAD-UK 10 27104130 27104130 deletion of <=200bp C - intron_variant ESAD-UK 10 27104426 27104426 single base substitution G A intron_variant ESAD-UK 10 27104466 27104466 single base substitution G A intron_variant ESAD-UK 10 27104901 27104901 single base substitution C A intron_variant ESAD-UK 10 27104953 27104953 single base substitution T C intron_variant ESAD-UK 10 27106330 27106330 deletion of <=200bp A - intron_variant ESAD-UK 10 27108140 27108140 deletion of <=200bp C - intron_variant ESAD-UK 10 27111112 27111112 single base substitution C A intron_variant ESAD-UK 10 27112557 27112557 single base substitution G A intron_variant ESAD-UK 10 27112557 27112557 single base substitution G A upstream_gene_variant ESAD-UK 10 27115462 27115462 single base substitution C A intron_variant ESAD-UK 10 27115462 27115462 single base substitution C A upstream_gene_variant ESAD-UK 10 27116164 27116164 deletion of <=200bp A - intron_variant ESAD-UK 10 27116164 27116164 deletion of <=200bp A - upstream_gene_variant ESAD-UK 10 27116448 27116448 single base substitution A G intron_variant ESAD-UK 10 27116448 27116448 single base substitution A G upstream_gene_variant ESAD-UK 10 27119830 27119830 deletion of <=200bp T - intron_variant ESAD-UK 10 27120834 27120834 single base substitution C T intron_variant ESAD-UK 10 27121739 27121739 single base substitution G A intron_variant ESAD-UK 10 27122817 27122817 deletion of <=200bp A - intron_variant ESAD-UK 10 27124858 27124858 single base substitution T C intron_variant ESAD-UK 10 27125334 27125334 single base substitution G A intron_variant ESAD-UK 10 27126855 27126855 single base substitution G A intron_variant ESAD-UK 10 27127386 27127386 single base substitution A T intron_variant ESAD-UK 10 27127829 27127829 single base substitution C T intron_variant ESAD-UK 10 27128442 27128442 single base substitution G A intron_variant ESAD-UK 10 27130593 27130593 single base substitution T A intron_variant ESAD-UK 10 27130678 27130678 single base substitution G T intron_variant ESAD-UK 10 27132020 27132020 single base substitution G A intron_variant ESAD-UK 10 27132914 27132914 single base substitution T C intron_variant ESAD-UK 10 27134447 27134447 single base substitution C A intron_variant ESAD-UK 10 27136049 27136049 single base substitution A G intron_variant ESAD-UK 10 27136554 27136554 insertion of <=200bp - A intron_variant ESAD-UK 10 27142240 27142240 single base substitution T A intron_variant ESAD-UK 10 27142241 27142241 single base substitution T A intron_variant ESAD-UK 10 27145615 27145615 single base substitution C T intron_variant ESAD-UK 10 27148474 27148474 single base substitution C T intron_variant ESAD-UK 10 27150690 27150690 single base substitution T C upstream_gene_variant ESAD-UK 10 27150981 27150981 single base substitution C T upstream_gene_variant ESAD-UK 10 27153792 27153793 deletion of <=200bp AA - upstream_gene_variant ESAD-UK 10 27153984 27153984 single base substitution T C upstream_gene_variant ESAD-UK 10 27155011 27155011 single base substitution A C upstream_gene_variant GACA-CN 10 27037546 27037546 single base substitution G T missense_variant L315M 943C>A GACA-CN 10 27037546 27037546 single base substitution G T missense_variant L380M 1138C>A GACA-CN 10 27037546 27037546 single base substitution G T missense_variant L409M 1225C>A GACA-CN 10 27037546 27037546 single base substitution G T missense_variant L432M 1294C>A GACA-CN 10 27037546 27037546 single base substitution G T missense_variant L437M 1309C>A GACA-CN 10 27037546 27037546 single base substitution G T missense_variant L438M 1312C>A GACA-CN 10 27037546 27037546 single base substitution G T missense_variant L461M 1381C>A GACA-CN 10 27037546 27037546 single base substitution G T missense_variant L462M 1384C>A GACA-CN 10 27037546 27037546 single base substitution G T missense_variant L466M 1396C>A GACA-CN 10 27037546 27037546 single base substitution G T missense_variant L467M 1399C>A GACA-CN 10 27037546 27037546 single base substitution G T missense_variant L468M 1402C>A GACA-CN 10 27037546 27037546 single base substitution G T missense_variant L482M 1444C>A GACA-CN 10 27037546 27037546 single base substitution G T missense_variant L494M 1480C>A GACA-CN 10 27037546 27037546 single base substitution G T missense_variant L495M 1483C>A KIRC-US 10 27054165 27054165 single base substitution G T missense_variant P204T 610C>A KIRC-US 10 27054165 27054165 single base substitution G T missense_variant P263T 787C>A KIRC-US 10 27054165 27054165 single base substitution G T missense_variant P268T 802C>A KIRC-US 10 27054165 27054165 single base substitution G T missense_variant P269T 805C>A KIRC-US 10 27054165 27054165 single base substitution G T missense_variant P285T 853C>A LAML-KR 10 27057755 27057755 single base substitution T C intron_variant LAML-KR 10 27075163 27075163 single base substitution G T intron_variant LICA-FR 10 27033574 27033574 single base substitution C T downstream_gene_variant LICA-FR 10 27034358 27034358 single base substitution T G downstream_gene_variant LICA-FR 10 27041844 27041844 single base substitution G T intron_variant LICA-FR 10 27062145 27062145 insertion of <=200bp - TTTTT downstream_gene_variant LICA-FR 10 27062145 27062145 insertion of <=200bp - TTTTT intron_variant LICA-FR 10 27078863 27078863 single base substitution T C intron_variant LICA-FR 10 27089639 27089639 single base substitution G A intron_variant LICA-FR 10 27124637 27124637 single base substitution T C intron_variant LICA-FR 10 27130247 27130247 single base substitution T C intron_variant LINC-JP 10 27035253 27035253 single base substitution A G downstream_gene_variant LINC-JP 10 27036170 27036170 single base substitution T C 3_prime_UTR_variant LINC-JP 10 27036170 27036170 single base substitution T C downstream_gene_variant LINC-JP 10 27044955 27044955 single base substitution T C intron_variant LINC-JP 10 27054297 27054297 deletion of <=200bp A - intron_variant LINC-JP 10 27054297 27054297 single base substitution A T intron_variant LINC-JP 10 27063481 27063481 single base substitution T C downstream_gene_variant LINC-JP 10 27063481 27063481 single base substitution T C intron_variant LINC-JP 10 27100688 27100697 deletion of <=200bp ATTTGTATAA - intron_variant LINC-JP 10 27103476 27103476 single base substitution T C intron_variant LINC-JP 10 27112897 27112897 deletion of <=200bp A - intron_variant LINC-JP 10 27112897 27112897 deletion of <=200bp A - upstream_gene_variant LINC-JP 10 27114613 27114613 single base substitution T C intron_variant LINC-JP 10 27114613 27114613 single base substitution T C upstream_gene_variant LINC-JP 10 27123295 27123295 single base substitution G A intron_variant LIRI-JP 10 27030714 27030714 single base substitution G A downstream_gene_variant LIRI-JP 10 27031665 27031665 single base substitution T A downstream_gene_variant LIRI-JP 10 27032906 27032906 single base substitution T G downstream_gene_variant LIRI-JP 10 27034176 27034176 single base substitution T G downstream_gene_variant LIRI-JP 10 27035210 27035210 single base substitution G T downstream_gene_variant LIRI-JP 10 27035211 27035211 single base substitution C T downstream_gene_variant LIRI-JP 10 27036254 27036254 single base substitution A G 3_prime_UTR_variant LIRI-JP 10 27036254 27036254 single base substitution A G downstream_gene_variant LIRI-JP 10 27037842 27037842 insertion of <=200bp - AA intron_variant LIRI-JP 10 27039014 27039014 single base substitution A C intron_variant LIRI-JP 10 27039033 27039033 single base substitution T C intron_variant LIRI-JP 10 27042194 27042194 deletion of <=200bp A - intron_variant LIRI-JP 10 27043694 27043694 single base substitution T A intron_variant LIRI-JP 10 27045857 27045872 deletion of <=200bp CATTGTATAGCTAAAG - intron_variant LIRI-JP 10 27046404 27046405 deletion of <=200bp AC - intron_variant LIRI-JP 10 27048454 27048454 single base substitution T C intron_variant LIRI-JP 10 27048943 27048943 single base substitution G C intron_variant LIRI-JP 10 27051221 27051221 single base substitution G C intron_variant LIRI-JP 10 27051239 27051239 single base substitution A G intron_variant LIRI-JP 10 27051860 27051860 single base substitution T C intron_variant LIRI-JP 10 27052503 27052503 single base substitution A C intron_variant LIRI-JP 10 27052716 27052716 single base substitution T C intron_variant LIRI-JP 10 27052931 27052931 single base substitution G A intron_variant LIRI-JP 10 27054128 27054128 insertion of <=200bp - A intron_variant LIRI-JP 10 27055946 27055946 single base substitution C T intron_variant LIRI-JP 10 27055961 27055961 single base substitution A T intron_variant LIRI-JP 10 27056218 27056218 single base substitution G A intron_variant LIRI-JP 10 27057521 27057521 single base substitution C G intron_variant LIRI-JP 10 27058117 27058117 single base substitution T C intron_variant LIRI-JP 10 27058368 27058368 single base substitution A G intron_variant LIRI-JP 10 27058746 27058764 deletion of <=200bp CAGACACCAATAGGCGAAA - intron_variant LIRI-JP 10 27060448 27060448 single base substitution T C intron_variant LIRI-JP 10 27063847 27063847 single base substitution T C downstream_gene_variant LIRI-JP 10 27063847 27063847 single base substitution T C intron_variant LIRI-JP 10 27064014 27064014 single base substitution T C downstream_gene_variant LIRI-JP 10 27064014 27064014 single base substitution T C intron_variant LIRI-JP 10 27066691 27066691 single base substitution A C intron_variant LIRI-JP 10 27068086 27068086 single base substitution A G intron_variant LIRI-JP 10 27068556 27068556 single base substitution G C intron_variant LIRI-JP 10 27070013 27070013 single base substitution A C intron_variant LIRI-JP 10 27072239 27072239 single base substitution G C intron_variant LIRI-JP 10 27072657 27072657 single base substitution T A intron_variant LIRI-JP 10 27076555 27076555 single base substitution G A intron_variant LIRI-JP 10 27076556 27076556 single base substitution C A intron_variant LIRI-JP 10 27077209 27077209 single base substitution C T intron_variant LIRI-JP 10 27077579 27077579 single base substitution C A intron_variant LIRI-JP 10 27078867 27078867 single base substitution T A intron_variant LIRI-JP 10 27080904 27080904 single base substitution T C intron_variant LIRI-JP 10 27081020 27081020 single base substitution C T intron_variant LIRI-JP 10 27082652 27082652 single base substitution T G intron_variant LIRI-JP 10 27083626 27083626 single base substitution T C intron_variant LIRI-JP 10 27084472 27084472 single base substitution G C intron_variant LIRI-JP 10 27084559 27084559 single base substitution A C intron_variant LIRI-JP 10 27085386 27085386 single base substitution G A intron_variant LIRI-JP 10 27087534 27087534 single base substitution G T intron_variant LIRI-JP 10 27088215 27088215 single base substitution G T intron_variant LIRI-JP 10 27089029 27089029 single base substitution C T intron_variant LIRI-JP 10 27089958 27089958 single base substitution G A intron_variant LIRI-JP 10 27092906 27092906 single base substitution C T intron_variant LIRI-JP 10 27094482 27094482 single base substitution C T intron_variant LIRI-JP 10 27095589 27095589 single base substitution T C intron_variant LIRI-JP 10 27097256 27097256 single base substitution T C intron_variant LIRI-JP 10 27098191 27098191 single base substitution T C intron_variant LIRI-JP 10 27098641 27098641 single base substitution T C intron_variant LIRI-JP 10 27101330 27101330 single base substitution C T intron_variant LIRI-JP 10 27101338 27101338 single base substitution A G intron_variant LIRI-JP 10 27102456 27102456 single base substitution T C intron_variant LIRI-JP 10 27105175 27105175 single base substitution T C intron_variant LIRI-JP 10 27105186 27105186 single base substitution T G intron_variant LIRI-JP 10 27106233 27106233 single base substitution T C intron_variant LIRI-JP 10 27107911 27107911 single base substitution G A intron_variant LIRI-JP 10 27109151 27109151 single base substitution T C intron_variant LIRI-JP 10 27111106 27111106 single base substitution T A intron_variant LIRI-JP 10 27113439 27113439 single base substitution T A intron_variant LIRI-JP 10 27113439 27113439 single base substitution T A upstream_gene_variant LIRI-JP 10 27114504 27114504 single base substitution C T intron_variant LIRI-JP 10 27114504 27114504 single base substitution C T upstream_gene_variant LIRI-JP 10 27119211 27119211 single base substitution T C intron_variant LIRI-JP 10 27123438 27123438 single base substitution T A intron_variant LIRI-JP 10 27125543 27125543 single base substitution G T intron_variant LIRI-JP 10 27125550 27125550 single base substitution T G intron_variant LIRI-JP 10 27125692 27125692 single base substitution T A intron_variant LIRI-JP 10 27125845 27125845 single base substitution G A intron_variant LIRI-JP 10 27127535 27127535 single base substitution A G intron_variant LIRI-JP 10 27128735 27128735 single base substitution T C intron_variant LIRI-JP 10 27129646 27129646 single base substitution G C intron_variant LIRI-JP 10 27129719 27129719 single base substitution G C intron_variant LIRI-JP 10 27129783 27129783 single base substitution G A intron_variant LIRI-JP 10 27130729 27130729 single base substitution T C intron_variant LIRI-JP 10 27134991 27134991 single base substitution A C intron_variant LIRI-JP 10 27135021 27135021 single base substitution A C intron_variant LIRI-JP 10 27135744 27135744 single base substitution A G intron_variant LIRI-JP 10 27135827 27135827 single base substitution A C intron_variant LIRI-JP 10 27140269 27140269 single base substitution C G intron_variant LIRI-JP 10 27142821 27142821 single base substitution T C intron_variant LIRI-JP 10 27144020 27144020 single base substitution A G intron_variant LIRI-JP 10 27145490 27145490 single base substitution A T intron_variant LIRI-JP 10 27148116 27148116 single base substitution G T intron_variant LIRI-JP 10 27148224 27148224 single base substitution G A intron_variant LIRI-JP 10 27148239 27148239 single base substitution A G intron_variant LIRI-JP 10 27148646 27148646 single base substitution A T intron_variant LIRI-JP 10 27151879 27151879 single base substitution C T upstream_gene_variant LUSC-KR 10 27034784 27034784 single base substitution G C downstream_gene_variant LUSC-KR 10 27037768 27037768 single base substitution A T intron_variant LUSC-KR 10 27041523 27041523 single base substitution G A intron_variant LUSC-KR 10 27041610 27041610 single base substitution G C intron_variant LUSC-KR 10 27041622 27041622 single base substitution T C intron_variant LUSC-KR 10 27043927 27043927 single base substitution T G intron_variant LUSC-KR 10 27051552 27051552 single base substitution T C intron_variant LUSC-KR 10 27071052 27071052 single base substitution T C intron_variant LUSC-KR 10 27073392 27073392 single base substitution C T intron_variant LUSC-KR 10 27092340 27092340 single base substitution C A intron_variant LUSC-KR 10 27103681 27103681 single base substitution T A intron_variant LUSC-KR 10 27109535 27109535 single base substitution G T intron_variant LUSC-KR 10 27112434 27112434 single base substitution C T intron_variant LUSC-KR 10 27112434 27112434 single base substitution C T upstream_gene_variant LUSC-KR 10 27116515 27116515 single base substitution T C intron_variant LUSC-KR 10 27116515 27116515 single base substitution T C upstream_gene_variant LUSC-KR 10 27122255 27122255 single base substitution C T intron_variant LUSC-KR 10 27130181 27130181 single base substitution T C intron_variant LUSC-KR 10 27133526 27133526 single base substitution T A intron_variant LUSC-KR 10 27136426 27136426 single base substitution C A intron_variant LUSC-KR 10 27138492 27138492 single base substitution C A intron_variant LUSC-KR 10 27140637 27140637 single base substitution T G intron_variant LUSC-KR 10 27147451 27147451 single base substitution G C intron_variant LUSC-KR 10 27149908 27149908 single base substitution G A 5_prime_UTR_variant LUSC-KR 10 27149908 27149908 single base substitution G A upstream_gene_variant LUSC-US 10 27040691 27040691 single base substitution G A missense_variant P217L 650C>T LUSC-US 10 27040691 27040691 single base substitution G A missense_variant P282L 845C>T LUSC-US 10 27040691 27040691 single base substitution G A missense_variant P311L 932C>T LUSC-US 10 27040691 27040691 single base substitution G A missense_variant P334L 1001C>T LUSC-US 10 27040691 27040691 single base substitution G A missense_variant P339L 1016C>T LUSC-US 10 27040691 27040691 single base substitution G A missense_variant P340L 1019C>T LUSC-US 10 27040691 27040691 single base substitution G A missense_variant P363L 1088C>T LUSC-US 10 27040691 27040691 single base substitution G A missense_variant P364L 1091C>T LUSC-US 10 27040691 27040691 single base substitution G A missense_variant P368L 1103C>T LUSC-US 10 27040691 27040691 single base substitution G A missense_variant P369L 1106C>T LUSC-US 10 27040691 27040691 single base substitution G A missense_variant P370L 1109C>T LUSC-US 10 27040691 27040691 single base substitution G A missense_variant P384L 1151C>T LUSC-US 10 27040691 27040691 single base substitution G A missense_variant P396L 1187C>T LUSC-US 10 27040691 27040691 single base substitution G A missense_variant P397L 1190C>T LUSC-US 10 27059274 27059274 single base substitution G A missense_variant H155Y 463C>T LUSC-US 10 27059274 27059274 single base substitution G A missense_variant H160Y 478C>T LUSC-US 10 27059274 27059274 single base substitution G A missense_variant H161Y 481C>T LUSC-US 10 27059274 27059274 single base substitution G A missense_variant H177Y 529C>T LUSC-US 10 27059274 27059274 single base substitution G A missense_variant H96Y 286C>T LUSC-US 10 27059275 27059275 single base substitution C A splice_acceptor_variant LUSC-US 10 27112098 27112098 single base substitution C T exon_variant LUSC-US 10 27112098 27112098 single base substitution C T missense_variant R102K 305G>A LUSC-US 10 27112098 27112098 single base substitution C T missense_variant R85K 254G>A MALY-DE 10 27031264 27031264 single base substitution C T downstream_gene_variant MALY-DE 10 27031303 27031303 single base substitution G C downstream_gene_variant MALY-DE 10 27031310 27031310 single base substitution A G downstream_gene_variant MALY-DE 10 27034868 27034868 single base substitution T C downstream_gene_variant MALY-DE 10 27035737 27035737 single base substitution T C 3_prime_UTR_variant MALY-DE 10 27035737 27035737 single base substitution T C downstream_gene_variant MALY-DE 10 27036730 27036730 single base substitution A G 3_prime_UTR_variant MALY-DE 10 27036730 27036730 single base substitution A G downstream_gene_variant MALY-DE 10 27041875 27041875 single base substitution A G intron_variant MALY-DE 10 27044664 27044664 single base substitution A C intron_variant MALY-DE 10 27044664 27044664 single base substitution A C missense_variant I277S 830T>G MALY-DE 10 27044664 27044664 single base substitution A C missense_variant I329S 986T>G MALY-DE 10 27044664 27044664 single base substitution A C missense_variant I330S 989T>G MALY-DE 10 27044664 27044664 single base substitution A C missense_variant I334S 1001T>G MALY-DE 10 27044664 27044664 single base substitution A C missense_variant I335S 1004T>G MALY-DE 10 27044664 27044664 single base substitution A C missense_variant I336S 1007T>G MALY-DE 10 27044664 27044664 single base substitution A C missense_variant I362S 1085T>G MALY-DE 10 27044664 27044664 single base substitution A C missense_variant I363S 1088T>G MALY-DE 10 27045113 27045113 single base substitution T C intron_variant MALY-DE 10 27045655 27045655 single base substitution G T intron_variant MALY-DE 10 27045930 27045930 single base substitution C T intron_variant MALY-DE 10 27057262 27057262 single base substitution G A intron_variant MALY-DE 10 27060325 27060329 deletion of <=200bp AGATG - intron_variant MALY-DE 10 27069279 27069279 single base substitution C T intron_variant MALY-DE 10 27074632 27074632 single base substitution C T intron_variant MALY-DE 10 27077837 27077837 single base substitution G A intron_variant MALY-DE 10 27079352 27079352 single base substitution A C intron_variant MALY-DE 10 27079423 27079423 single base substitution T G intron_variant MALY-DE 10 27080506 27080506 single base substitution G A intron_variant MALY-DE 10 27084588 27084588 deletion of <=200bp A - intron_variant MALY-DE 10 27084798 27084800 deletion of <=200bp TCC - intron_variant MALY-DE 10 27091597 27091597 single base substitution A T intron_variant MALY-DE 10 27094501 27094501 single base substitution A G intron_variant MALY-DE 10 27106013 27106013 single base substitution C T intron_variant MALY-DE 10 27127223 27127223 single base substitution T C intron_variant MALY-DE 10 27138083 27138085 deletion of <=200bp TAC - intron_variant MALY-DE 10 27145219 27145219 single base substitution A C intron_variant MALY-DE 10 27150892 27150892 single base substitution C T upstream_gene_variant MELA-AU 10 27033972 27033972 single base substitution A G downstream_gene_variant MELA-AU 10 27034092 27034092 single base substitution C T downstream_gene_variant MELA-AU 10 27035364 27035364 single base substitution A G downstream_gene_variant MELA-AU 10 27035489 27035489 single base substitution G A downstream_gene_variant MELA-AU 10 27038170 27038170 single base substitution G A intron_variant MELA-AU 10 27038930 27038931 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 10 27040264 27040264 single base substitution C T intron_variant MELA-AU 10 27044890 27044890 single base substitution T C intron_variant MELA-AU 10 27049303 27049304 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 10 27050015 27050015 single base substitution G T intron_variant MELA-AU 10 27050592 27050592 single base substitution C T intron_variant MELA-AU 10 27051101 27051101 single base substitution A T intron_variant MELA-AU 10 27052863 27052863 single base substitution C T intron_variant MELA-AU 10 27052863 27052863 single base substitution C T missense_variant G283R 847G>A MELA-AU 10 27052863 27052863 single base substitution C T missense_variant G284R 850G>A MELA-AU 10 27052863 27052863 single base substitution C T missense_variant G300R 898G>A MELA-AU 10 27053209 27053209 single base substitution T A intron_variant MELA-AU 10 27053947 27053947 single base substitution G A intron_variant MELA-AU 10 27054411 27054411 single base substitution G T intron_variant MELA-AU 10 27054544 27054544 single base substitution C T intron_variant MELA-AU 10 27054631 27054631 single base substitution G A intron_variant MELA-AU 10 27057911 27057911 single base substitution G A missense_variant P133S 397C>T MELA-AU 10 27057911 27057911 single base substitution G A missense_variant P192S 574C>T MELA-AU 10 27057911 27057911 single base substitution G A missense_variant P197S 589C>T MELA-AU 10 27057911 27057911 single base substitution G A missense_variant P198S 592C>T MELA-AU 10 27057911 27057911 single base substitution G A missense_variant P214S 640C>T MELA-AU 10 27057957 27057957 single base substitution A C intron_variant MELA-AU 10 27058432 27058432 single base substitution G A intron_variant MELA-AU 10 27058761 27058761 single base substitution G A intron_variant MELA-AU 10 27059289 27059289 single base substitution G A intron_variant MELA-AU 10 27060045 27060045 deletion of <=200bp A - intron_variant MELA-AU 10 27060071 27060072 deletion of <=200bp GT - intron_variant MELA-AU 10 27061438 27061438 single base substitution G A downstream_gene_variant MELA-AU 10 27061438 27061438 single base substitution G A intron_variant MELA-AU 10 27061865 27061865 single base substitution G A downstream_gene_variant MELA-AU 10 27061865 27061865 single base substitution G A intron_variant MELA-AU 10 27062266 27062266 single base substitution G A downstream_gene_variant MELA-AU 10 27062266 27062266 single base substitution G A intron_variant MELA-AU 10 27062349 27062349 single base substitution G A downstream_gene_variant MELA-AU 10 27062349 27062349 single base substitution G A intron_variant MELA-AU 10 27062738 27062738 single base substitution C T downstream_gene_variant MELA-AU 10 27062738 27062738 single base substitution C T intron_variant MELA-AU 10 27063910 27063910 single base substitution A T downstream_gene_variant MELA-AU 10 27063910 27063910 single base substitution A T intron_variant MELA-AU 10 27065307 27065308 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 10 27065307 27065308 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 10 27065524 27065524 single base substitution G A downstream_gene_variant MELA-AU 10 27065524 27065524 single base substitution G A intron_variant MELA-AU 10 27065765 27065765 single base substitution G A exon_variant MELA-AU 10 27065765 27065765 single base substitution G A intron_variant MELA-AU 10 27067454 27067454 single base substitution G A intron_variant MELA-AU 10 27068107 27068107 single base substitution G A intron_variant MELA-AU 10 27069575 27069575 single base substitution T C intron_variant MELA-AU 10 27070324 27070324 single base substitution C A intron_variant MELA-AU 10 27070922 27070922 single base substitution G A intron_variant MELA-AU 10 27072644 27072644 single base substitution G C intron_variant MELA-AU 10 27073419 27073420 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 10 27075024 27075024 single base substitution G A intron_variant MELA-AU 10 27075876 27075876 single base substitution A G intron_variant MELA-AU 10 27075942 27075942 single base substitution G A intron_variant MELA-AU 10 27077214 27077214 single base substitution T A intron_variant MELA-AU 10 27077282 27077283 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 10 27077686 27077686 insertion of <=200bp - A intron_variant MELA-AU 10 27077759 27077759 single base substitution A G intron_variant MELA-AU 10 27077829 27077829 single base substitution G A intron_variant MELA-AU 10 27078088 27078088 single base substitution G A intron_variant MELA-AU 10 27078880 27078880 single base substitution G A intron_variant MELA-AU 10 27079101 27079101 single base substitution G A intron_variant MELA-AU 10 27079515 27079515 single base substitution G A intron_variant MELA-AU 10 27079812 27079812 single base substitution A G intron_variant MELA-AU 10 27080804 27080804 single base substitution T G intron_variant MELA-AU 10 27080887 27080887 single base substitution G A intron_variant MELA-AU 10 27083251 27083251 single base substitution G T intron_variant MELA-AU 10 27083849 27083849 single base substitution G A intron_variant MELA-AU 10 27083894 27083894 single base substitution G A intron_variant MELA-AU 10 27084552 27084552 single base substitution G A intron_variant MELA-AU 10 27084873 27084873 single base substitution G A intron_variant MELA-AU 10 27085147 27085147 single base substitution G A intron_variant MELA-AU 10 27085170 27085170 single base substitution G A intron_variant MELA-AU 10 27085183 27085183 single base substitution A G intron_variant MELA-AU 10 27085559 27085559 single base substitution G A intron_variant MELA-AU 10 27085855 27085855 single base substitution G A intron_variant MELA-AU 10 27086017 27086017 single base substitution C T intron_variant MELA-AU 10 27086348 27086348 single base substitution G A intron_variant MELA-AU 10 27087240 27087240 single base substitution G A intron_variant MELA-AU 10 27087630 27087630 single base substitution A C intron_variant MELA-AU 10 27087908 27087908 single base substitution A T intron_variant MELA-AU 10 27088404 27088404 single base substitution G A intron_variant MELA-AU 10 27088592 27088592 single base substitution G A intron_variant MELA-AU 10 27088706 27088706 single base substitution T C intron_variant MELA-AU 10 27089134 27089134 single base substitution G A intron_variant MELA-AU 10 27089593 27089593 single base substitution G A intron_variant MELA-AU 10 27091194 27091194 single base substitution G A intron_variant MELA-AU 10 27092475 27092475 single base substitution T A intron_variant MELA-AU 10 27092540 27092540 single base substitution C T intron_variant MELA-AU 10 27092932 27092932 single base substitution A C intron_variant MELA-AU 10 27092981 27092981 single base substitution A C intron_variant MELA-AU 10 27094282 27094282 single base substitution G A intron_variant MELA-AU 10 27094383 27094384 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 10 27094544 27094544 single base substitution A G intron_variant MELA-AU 10 27094560 27094560 single base substitution G A intron_variant MELA-AU 10 27094835 27094835 single base substitution G A intron_variant MELA-AU 10 27095890 27095890 single base substitution T C intron_variant MELA-AU 10 27095910 27095910 single base substitution A C intron_variant MELA-AU 10 27096249 27096249 single base substitution G A intron_variant MELA-AU 10 27096363 27096363 single base substitution A T intron_variant MELA-AU 10 27096659 27096659 single base substitution G A intron_variant MELA-AU 10 27097311 27097311 single base substitution G A intron_variant MELA-AU 10 27097711 27097711 single base substitution G A intron_variant MELA-AU 10 27098008 27098008 single base substitution G A intron_variant MELA-AU 10 27098474 27098474 single base substitution G A intron_variant MELA-AU 10 27098774 27098774 single base substitution G A intron_variant MELA-AU 10 27099602 27099602 single base substitution A C intron_variant MELA-AU 10 27099841 27099841 single base substitution G A intron_variant MELA-AU 10 27099872 27099872 single base substitution G A intron_variant MELA-AU 10 27101082 27101082 single base substitution G A intron_variant MELA-AU 10 27101161 27101161 single base substitution G A intron_variant MELA-AU 10 27101445 27101445 single base substitution C T intron_variant MELA-AU 10 27101456 27101456 single base substitution G A intron_variant MELA-AU 10 27102154 27102154 single base substitution G A intron_variant MELA-AU 10 27102227 27102227 single base substitution G A intron_variant MELA-AU 10 27102268 27102268 single base substitution G A intron_variant MELA-AU 10 27102332 27102332 single base substitution G A intron_variant MELA-AU 10 27103247 27103247 single base substitution T A intron_variant MELA-AU 10 27103300 27103300 single base substitution G A intron_variant MELA-AU 10 27103383 27103383 single base substitution A G intron_variant MELA-AU 10 27103660 27103660 single base substitution G A intron_variant MELA-AU 10 27105329 27105329 single base substitution G T intron_variant MELA-AU 10 27105668 27105668 single base substitution G A intron_variant MELA-AU 10 27105753 27105754 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 10 27106113 27106113 single base substitution G A intron_variant MELA-AU 10 27106558 27106559 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 10 27106659 27106659 single base substitution A T intron_variant MELA-AU 10 27107401 27107401 single base substitution A G intron_variant MELA-AU 10 27107703 27107703 single base substitution G A intron_variant MELA-AU 10 27107798 27107798 single base substitution A T intron_variant MELA-AU 10 27107890 27107890 single base substitution C T intron_variant MELA-AU 10 27107946 27107946 single base substitution G C intron_variant MELA-AU 10 27108965 27108965 single base substitution G A intron_variant MELA-AU 10 27110073 27110073 single base substitution G A intron_variant MELA-AU 10 27110223 27110223 single base substitution G A intron_variant MELA-AU 10 27110392 27110392 single base substitution G T intron_variant MELA-AU 10 27110601 27110601 single base substitution G A intron_variant MELA-AU 10 27110655 27110655 single base substitution G A intron_variant MELA-AU 10 27110663 27110663 single base substitution G A intron_variant MELA-AU 10 27111512 27111512 single base substitution G A intron_variant MELA-AU 10 27111622 27111622 single base substitution G A intron_variant MELA-AU 10 27111636 27111636 single base substitution G A intron_variant MELA-AU 10 27111909 27111910 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 10 27112702 27112702 insertion of <=200bp - A intron_variant MELA-AU 10 27112702 27112702 insertion of <=200bp - A upstream_gene_variant MELA-AU 10 27113382 27113382 single base substitution A G intron_variant MELA-AU 10 27113382 27113382 single base substitution A G upstream_gene_variant MELA-AU 10 27113397 27113397 single base substitution C T intron_variant MELA-AU 10 27113397 27113397 single base substitution C T upstream_gene_variant MELA-AU 10 27114290 27114290 single base substitution G A intron_variant MELA-AU 10 27114290 27114290 single base substitution G A upstream_gene_variant MELA-AU 10 27114387 27114387 single base substitution C T intron_variant MELA-AU 10 27114387 27114387 single base substitution C T upstream_gene_variant MELA-AU 10 27114644 27114644 single base substitution G A intron_variant MELA-AU 10 27114644 27114644 single base substitution G A upstream_gene_variant MELA-AU 10 27114996 27114996 single base substitution G A intron_variant MELA-AU 10 27114996 27114996 single base substitution G A upstream_gene_variant MELA-AU 10 27115004 27115004 single base substitution G A intron_variant MELA-AU 10 27115004 27115004 single base substitution G A upstream_gene_variant MELA-AU 10 27115769 27115769 single base substitution C T intron_variant MELA-AU 10 27115769 27115769 single base substitution C T upstream_gene_variant MELA-AU 10 27116099 27116099 single base substitution C T intron_variant MELA-AU 10 27116099 27116099 single base substitution C T upstream_gene_variant MELA-AU 10 27118041 27118041 single base substitution G A intron_variant MELA-AU 10 27118830 27118830 single base substitution G T intron_variant MELA-AU 10 27119797 27119797 single base substitution C A intron_variant MELA-AU 10 27121571 27121571 single base substitution G A intron_variant MELA-AU 10 27122158 27122158 deletion of <=200bp A - intron_variant MELA-AU 10 27123257 27123257 single base substitution G T intron_variant MELA-AU 10 27124787 27124787 single base substitution G A intron_variant MELA-AU 10 27125010 27125010 single base substitution G A intron_variant MELA-AU 10 27126378 27126378 single base substitution G A intron_variant MELA-AU 10 27126433 27126433 single base substitution C A intron_variant MELA-AU 10 27126772 27126772 single base substitution G A intron_variant MELA-AU 10 27127189 27127189 single base substitution G A intron_variant MELA-AU 10 27127722 27127722 single base substitution G A intron_variant MELA-AU 10 27127790 27127790 single base substitution C A intron_variant MELA-AU 10 27128870 27128870 single base substitution G A intron_variant MELA-AU 10 27129109 27129109 single base substitution G A intron_variant MELA-AU 10 27129282 27129282 single base substitution T G intron_variant MELA-AU 10 27129650 27129650 single base substitution A T intron_variant MELA-AU 10 27134187 27134187 single base substitution A G intron_variant MELA-AU 10 27134560 27134560 single base substitution G A intron_variant MELA-AU 10 27135461 27135462 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 10 27136195 27136195 single base substitution G A intron_variant MELA-AU 10 27136361 27136361 single base substitution G A intron_variant MELA-AU 10 27139531 27139531 single base substitution G A intron_variant MELA-AU 10 27139966 27139966 single base substitution G A intron_variant MELA-AU 10 27140327 27140328 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 10 27140955 27140956 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 10 27141617 27141617 single base substitution A G intron_variant MELA-AU 10 27141655 27141655 single base substitution C A intron_variant MELA-AU 10 27142252 27142252 single base substitution C A intron_variant MELA-AU 10 27142918 27142918 single base substitution T A intron_variant MELA-AU 10 27143525 27143525 single base substitution G A intron_variant MELA-AU 10 27143950 27143950 single base substitution A T intron_variant MELA-AU 10 27144547 27144547 single base substitution C T intron_variant MELA-AU 10 27144686 27144686 single base substitution G A intron_variant MELA-AU 10 27146577 27146577 single base substitution A T intron_variant MELA-AU 10 27148280 27148280 single base substitution C T intron_variant MELA-AU 10 27149835 27149835 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 10 27149835 27149835 single base substitution G A upstream_gene_variant MELA-AU 10 27150014 27150014 single base substitution C T 5_prime_UTR_variant MELA-AU 10 27150014 27150014 single base substitution C T upstream_gene_variant MELA-AU 10 27150028 27150028 single base substitution G A upstream_gene_variant MELA-AU 10 27150082 27150082 single base substitution C T upstream_gene_variant MELA-AU 10 27150679 27150679 single base substitution G A upstream_gene_variant MELA-AU 10 27151286 27151286 single base substitution C T upstream_gene_variant MELA-AU 10 27152218 27152218 single base substitution G A upstream_gene_variant MELA-AU 10 27152697 27152697 single base substitution C T upstream_gene_variant MELA-AU 10 27152824 27152824 single base substitution G A upstream_gene_variant MELA-AU 10 27152918 27152918 single base substitution G A upstream_gene_variant MELA-AU 10 27153178 27153178 single base substitution G T upstream_gene_variant MELA-AU 10 27153647 27153647 single base substitution C T upstream_gene_variant MELA-AU 10 27153940 27153940 single base substitution G A upstream_gene_variant MELA-AU 10 27154369 27154369 single base substitution G C upstream_gene_variant ORCA-IN 10 27046910 27046910 single base substitution T C intron_variant ORCA-IN 10 27049584 27049584 single base substitution C T intron_variant ORCA-IN 10 27053448 27053448 single base substitution C A intron_variant ORCA-IN 10 27101640 27101640 single base substitution G C intron_variant ORCA-IN 10 27116971 27116971 single base substitution G A intron_variant ORCA-IN 10 27116971 27116971 single base substitution G A upstream_gene_variant OV-AU 10 27033501 27033501 single base substitution G C downstream_gene_variant OV-AU 10 27038011 27038011 single base substitution T G intron_variant OV-AU 10 27039420 27039420 single base substitution C T intron_variant OV-AU 10 27045674 27045674 single base substitution G A intron_variant OV-AU 10 27053238 27053238 single base substitution C G intron_variant OV-AU 10 27054624 27054624 single base substitution T G intron_variant OV-AU 10 27055732 27055732 single base substitution T C intron_variant OV-AU 10 27067878 27067878 single base substitution G C intron_variant OV-AU 10 27071148 27071148 single base substitution T A intron_variant OV-AU 10 27075350 27075350 single base substitution G A intron_variant OV-AU 10 27076730 27076730 single base substitution C A intron_variant OV-AU 10 27082916 27082916 single base substitution A G intron_variant OV-AU 10 27085704 27085704 single base substitution C G intron_variant OV-AU 10 27086764 27086764 single base substitution T C intron_variant OV-AU 10 27089008 27089008 single base substitution T C intron_variant OV-AU 10 27089045 27089045 single base substitution G C intron_variant OV-AU 10 27097202 27097202 single base substitution T A intron_variant OV-AU 10 27100970 27100970 single base substitution A T intron_variant OV-AU 10 27108930 27108930 single base substitution G A intron_variant OV-AU 10 27110288 27110288 single base substitution A T intron_variant OV-AU 10 27111012 27111012 single base substitution G C intron_variant OV-AU 10 27115237 27115237 single base substitution T C intron_variant OV-AU 10 27115237 27115237 single base substitution T C upstream_gene_variant OV-AU 10 27121364 27121364 single base substitution T A intron_variant OV-AU 10 27124082 27124082 single base substitution G T intron_variant OV-AU 10 27127366 27127366 single base substitution A G intron_variant OV-AU 10 27129063 27129063 single base substitution C T intron_variant OV-AU 10 27131021 27131021 single base substitution T A intron_variant OV-AU 10 27135512 27135512 single base substitution T A intron_variant OV-AU 10 27141350 27141350 single base substitution G T intron_variant OV-AU 10 27145840 27145840 single base substitution C A intron_variant OV-AU 10 27153365 27153365 single base substitution G T upstream_gene_variant PACA-AU 10 27032162 27032162 deletion of <=200bp T - downstream_gene_variant PACA-AU 10 27037245 27037245 single base substitution C A 3_prime_UTR_variant PACA-AU 10 27037245 27037245 single base substitution C A downstream_gene_variant PACA-AU 10 27039931 27039931 single base substitution C T intron_variant PACA-AU 10 27043881 27043881 single base substitution C A intron_variant PACA-AU 10 27045375 27045375 single base substitution A G intron_variant PACA-AU 10 27051292 27051292 single base substitution C T intron_variant PACA-AU 10 27060045 27060045 deletion of <=200bp A - intron_variant PACA-AU 10 27061403 27061403 single base substitution T A downstream_gene_variant PACA-AU 10 27061403 27061403 single base substitution T A intron_variant PACA-AU 10 27083168 27083173 deletion of <=200bp AAATAA - intron_variant PACA-AU 10 27084246 27084246 single base substitution G A intron_variant PACA-AU 10 27085286 27085286 single base substitution T C intron_variant PACA-AU 10 27088393 27088393 single base substitution C T intron_variant PACA-AU 10 27093922 27093922 single base substitution G C intron_variant PACA-AU 10 27098552 27098552 deletion of <=200bp A - intron_variant PACA-AU 10 27099133 27099133 single base substitution C G intron_variant PACA-AU 10 27099134 27099134 single base substitution C A intron_variant PACA-AU 10 27108255 27108255 single base substitution C T intron_variant PACA-AU 10 27111951 27111951 single base substitution T G intron_variant PACA-AU 10 27128046 27128046 single base substitution T G intron_variant PACA-AU 10 27128906 27128906 single base substitution G C intron_variant PACA-AU 10 27128957 27128957 single base substitution G A intron_variant PACA-AU 10 27129025 27129025 single base substitution G C intron_variant PACA-AU 10 27129079 27129079 single base substitution G C intron_variant PACA-AU 10 27129275 27129275 single base substitution G A intron_variant PACA-AU 10 27129294 27129294 single base substitution G C intron_variant PACA-AU 10 27129385 27129385 single base substitution G C intron_variant PACA-AU 10 27129428 27129428 single base substitution G A intron_variant PACA-AU 10 27129500 27129500 single base substitution G C intron_variant PACA-AU 10 27129861 27129861 single base substitution G A intron_variant PACA-AU 10 27129901 27129901 single base substitution G T intron_variant PACA-AU 10 27130144 27130144 single base substitution G A intron_variant PACA-AU 10 27130771 27130771 single base substitution G A intron_variant PACA-AU 10 27130835 27130835 single base substitution G C intron_variant PACA-AU 10 27131105 27131105 single base substitution G A intron_variant PACA-AU 10 27133436 27133436 single base substitution A C intron_variant PACA-AU 10 27139915 27139917 deletion of <=200bp GAA - intron_variant PACA-AU 10 27141131 27141131 single base substitution G A intron_variant PACA-AU 10 27142004 27142004 single base substitution G T intron_variant PACA-AU 10 27142241 27142241 single base substitution T A intron_variant PACA-AU 10 27143034 27143034 single base substitution C A intron_variant PACA-AU 10 27147506 27147507 deletion of <=200bp TG - intron_variant PACA-AU 10 27148314 27148314 deletion of <=200bp G - intron_variant PACA-AU 10 27151293 27151293 single base substitution C A upstream_gene_variant PACA-AU 10 27152244 27152244 single base substitution G T upstream_gene_variant PACA-AU 10 27154714 27154714 single base substitution G C upstream_gene_variant PACA-CA 10 27030929 27030929 single base substitution C T downstream_gene_variant PACA-CA 10 27036525 27036525 single base substitution A G 3_prime_UTR_variant PACA-CA 10 27036525 27036525 single base substitution A G downstream_gene_variant PACA-CA 10 27043482 27043482 single base substitution G A intron_variant PACA-CA 10 27045301 27045301 single base substitution T C intron_variant PACA-CA 10 27056836 27056836 single base substitution G A intron_variant PACA-CA 10 27059345 27059345 insertion of <=200bp - T intron_variant PACA-CA 10 27059930 27059930 single base substitution A T intron_variant PACA-CA 10 27062089 27062089 single base substitution T C downstream_gene_variant PACA-CA 10 27062089 27062089 single base substitution T C intron_variant PACA-CA 10 27064427 27064427 single base substitution A G downstream_gene_variant PACA-CA 10 27064427 27064427 single base substitution A G intron_variant PACA-CA 10 27066092 27066092 single base substitution G A exon_variant PACA-CA 10 27066092 27066092 single base substitution G A intron_variant PACA-CA 10 27066092 27066092 single base substitution G A missense_variant H122Y 364C>T PACA-CA 10 27066092 27066092 single base substitution G A missense_variant H139Y 415C>T PACA-CA 10 27066100 27066100 single base substitution G C exon_variant PACA-CA 10 27066100 27066100 single base substitution G C intron_variant PACA-CA 10 27066100 27066100 single base substitution G C stop_gained S119* 356C>G PACA-CA 10 27066100 27066100 single base substitution G C stop_gained S136* 407C>G PACA-CA 10 27066185 27066185 single base substitution G C intron_variant PACA-CA 10 27066240 27066240 single base substitution G A intron_variant PACA-CA 10 27067188 27067188 single base substitution T C intron_variant PACA-CA 10 27076169 27076169 single base substitution G T intron_variant PACA-CA 10 27077078 27077078 single base substitution G C intron_variant PACA-CA 10 27080700 27080700 single base substitution G A intron_variant PACA-CA 10 27084531 27084531 single base substitution C A intron_variant PACA-CA 10 27086383 27086383 single base substitution T C intron_variant PACA-CA 10 27091399 27091399 insertion of <=200bp - GA intron_variant PACA-CA 10 27093940 27093940 single base substitution G A intron_variant PACA-CA 10 27096742 27096742 single base substitution C T intron_variant PACA-CA 10 27097180 27097180 single base substitution T C intron_variant PACA-CA 10 27098712 27098712 single base substitution A T intron_variant PACA-CA 10 27100145 27100145 single base substitution A G intron_variant PACA-CA 10 27100497 27100497 single base substitution C G intron_variant PACA-CA 10 27101569 27101569 single base substitution C T intron_variant PACA-CA 10 27102294 27102294 single base substitution G A intron_variant PACA-CA 10 27104021 27104021 single base substitution A T intron_variant PACA-CA 10 27104129 27104129 insertion of <=200bp - C intron_variant PACA-CA 10 27104130 27104130 deletion of <=200bp C - intron_variant PACA-CA 10 27108147 27108147 single base substitution C A intron_variant PACA-CA 10 27113581 27113581 single base substitution C G intron_variant PACA-CA 10 27113581 27113581 single base substitution C G upstream_gene_variant PACA-CA 10 27114143 27114143 single base substitution T C intron_variant PACA-CA 10 27114143 27114143 single base substitution T C upstream_gene_variant PACA-CA 10 27128939 27128939 insertion of <=200bp - A intron_variant PACA-CA 10 27133343 27133343 single base substitution A T intron_variant PACA-CA 10 27138364 27138364 single base substitution G A intron_variant PACA-CA 10 27139038 27139038 single base substitution C A intron_variant PACA-CA 10 27143429 27143429 single base substitution T C intron_variant PACA-CA 10 27145944 27145944 single base substitution A G intron_variant PACA-CA 10 27154250 27154250 single base substitution G T upstream_gene_variant PAEN-AU 10 27052229 27052229 single base substitution G A intron_variant PAEN-AU 10 27091443 27091443 single base substitution T C intron_variant PAEN-AU 10 27106929 27106929 single base substitution A G intron_variant PAEN-IT 10 27031276 27031276 single base substitution C A downstream_gene_variant PAEN-IT 10 27068831 27068831 single base substitution C T intron_variant PBCA-DE 10 27033586 27033586 single base substitution G A downstream_gene_variant PBCA-DE 10 27041535 27041535 insertion of <=200bp - A intron_variant PBCA-DE 10 27046155 27046155 single base substitution A T intron_variant PBCA-DE 10 27053913 27053913 deletion of <=200bp T - intron_variant PBCA-DE 10 27059698 27059699 deletion of <=200bp TG - intron_variant PBCA-DE 10 27084361 27084361 insertion of <=200bp - A intron_variant PBCA-DE 10 27094095 27094095 single base substitution G C intron_variant PBCA-DE 10 27094478 27094478 single base substitution C T intron_variant PBCA-DE 10 27100149 27100149 single base substitution T G intron_variant PBCA-DE 10 27100688 27100697 deletion of <=200bp ATTTGTATAA - intron_variant PBCA-DE 10 27113540 27113540 deletion of <=200bp A - intron_variant PBCA-DE 10 27113540 27113540 deletion of <=200bp A - upstream_gene_variant PBCA-DE 10 27117696 27117696 single base substitution T C intron_variant PBCA-DE 10 27117749 27117749 single base substitution C T intron_variant PBCA-DE 10 27124510 27124510 deletion of <=200bp A - intron_variant PBCA-DE 10 27150862 27150862 single base substitution C T upstream_gene_variant PBCA-DE 10 27154565 27154565 single base substitution T C upstream_gene_variant PRAD-CA 10 27036173 27036173 single base substitution C G 3_prime_UTR_variant PRAD-CA 10 27036173 27036173 single base substitution C G downstream_gene_variant PRAD-CA 10 27052788 27052788 single base substitution C T intron_variant PRAD-CA 10 27064774 27064774 single base substitution C T downstream_gene_variant PRAD-CA 10 27064774 27064774 single base substitution C T intron_variant PRAD-CA 10 27089560 27089560 single base substitution T A intron_variant PRAD-CA 10 27093311 27093311 single base substitution A T intron_variant PRAD-CA 10 27152129 27152129 single base substitution A C upstream_gene_variant PRAD-CA 10 27153488 27153488 single base substitution G A upstream_gene_variant PRAD-UK 10 27047080 27047080 single base substitution G C intron_variant PRAD-UK 10 27070770 27070770 single base substitution C T intron_variant PRAD-UK 10 27074545 27074545 single base substitution C T intron_variant PRAD-UK 10 27077182 27077182 single base substitution C T intron_variant PRAD-UK 10 27081222 27081222 single base substitution C T intron_variant PRAD-UK 10 27082350 27082353 deletion of <=200bp ATAG - intron_variant PRAD-UK 10 27092485 27092485 deletion of <=200bp T - intron_variant PRAD-UK 10 27112339 27112339 single base substitution A T intron_variant PRAD-UK 10 27112339 27112339 single base substitution A T upstream_gene_variant PRAD-UK 10 27113430 27113430 single base substitution G C intron_variant PRAD-UK 10 27113430 27113430 single base substitution G C upstream_gene_variant PRAD-UK 10 27119981 27119981 single base substitution C A intron_variant PRAD-UK 10 27141940 27141940 deletion of <=200bp G - intron_variant PRAD-UK 10 27151847 27151847 single base substitution A G upstream_gene_variant RECA-EU 10 27071458 27071458 single base substitution C T intron_variant RECA-EU 10 27074685 27074685 single base substitution G T intron_variant RECA-EU 10 27078362 27078362 single base substitution G A intron_variant RECA-EU 10 27080016 27080016 single base substitution A C intron_variant RECA-EU 10 27084490 27084490 single base substitution G T intron_variant RECA-EU 10 27093661 27093661 single base substitution A T intron_variant RECA-EU 10 27095801 27095801 single base substitution A G intron_variant RECA-EU 10 27103726 27103726 single base substitution C T intron_variant RECA-EU 10 27105627 27105627 single base substitution T A intron_variant RECA-EU 10 27119801 27119801 single base substitution A C intron_variant RECA-EU 10 27125391 27125391 single base substitution T C intron_variant RECA-EU 10 27125664 27125664 single base substitution T C intron_variant RECA-EU 10 27141136 27141136 single base substitution C T intron_variant RECA-EU 10 27146731 27146731 single base substitution T G intron_variant RECA-EU 10 27153955 27153955 single base substitution A G upstream_gene_variant SKCA-BR 10 27031239 27031239 single base substitution A G downstream_gene_variant SKCA-BR 10 27041167 27041167 single base substitution C A intron_variant SKCA-BR 10 27042072 27042072 single base substitution C T intron_variant SKCA-BR 10 27046997 27046999 deletion of <=200bp CAA - intron_variant SKCA-BR 10 27047523 27047523 single base substitution G A intron_variant SKCA-BR 10 27048428 27048428 single base substitution C G intron_variant SKCA-BR 10 27049011 27049011 single base substitution T A intron_variant SKCA-BR 10 27059400 27059400 single base substitution A C intron_variant SKCA-BR 10 27063952 27063952 single base substitution C T downstream_gene_variant SKCA-BR 10 27063952 27063952 single base substitution C T intron_variant SKCA-BR 10 27065429 27065429 single base substitution T C downstream_gene_variant SKCA-BR 10 27065429 27065429 single base substitution T C intron_variant SKCA-BR 10 27067575 27067575 single base substitution G A intron_variant SKCA-BR 10 27071650 27071651 deletion of <=200bp CA - intron_variant SKCA-BR 10 27074443 27074443 single base substitution G A intron_variant SKCA-BR 10 27076205 27076205 single base substitution T A intron_variant SKCA-BR 10 27076801 27076801 single base substitution A T intron_variant SKCA-BR 10 27078481 27078481 single base substitution A C intron_variant SKCA-BR 10 27081081 27081081 single base substitution G A intron_variant SKCA-BR 10 27086001 27086001 single base substitution A C intron_variant SKCA-BR 10 27091439 27091439 single base substitution G A intron_variant SKCA-BR 10 27094201 27094201 single base substitution T G intron_variant SKCA-BR 10 27096744 27096744 single base substitution G A intron_variant SKCA-BR 10 27097993 27097993 single base substitution G A intron_variant SKCA-BR 10 27102183 27102183 insertion of <=200bp - CA intron_variant SKCA-BR 10 27102316 27102316 single base substitution G A intron_variant SKCA-BR 10 27104759 27104759 single base substitution G T intron_variant SKCA-BR 10 27105443 27105443 single base substitution G A intron_variant SKCA-BR 10 27109517 27109517 insertion of <=200bp - CT intron_variant SKCA-BR 10 27110172 27110172 insertion of <=200bp - TAA intron_variant SKCA-BR 10 27112008 27112008 single base substitution C T intron_variant SKCA-BR 10 27115839 27115840 deletion of <=200bp AT - intron_variant SKCA-BR 10 27115839 27115840 deletion of <=200bp AT - upstream_gene_variant SKCA-BR 10 27115854 27115854 single base substitution C T intron_variant SKCA-BR 10 27115854 27115854 single base substitution C T upstream_gene_variant SKCA-BR 10 27115861 27115861 single base substitution G T intron_variant SKCA-BR 10 27115861 27115861 single base substitution G T upstream_gene_variant SKCA-BR 10 27119553 27119553 insertion of <=200bp - TA intron_variant SKCA-BR 10 27121567 27121567 single base substitution G A intron_variant SKCA-BR 10 27124035 27124035 insertion of <=200bp - AAC intron_variant SKCA-BR 10 27124707 27124707 single base substitution T A intron_variant SKCA-BR 10 27125732 27125732 single base substitution A T intron_variant SKCA-BR 10 27125887 27125887 single base substitution T A intron_variant SKCA-BR 10 27126186 27126186 single base substitution G A intron_variant SKCA-BR 10 27126888 27126888 single base substitution G A intron_variant SKCA-BR 10 27128594 27128594 single base substitution A T intron_variant SKCA-BR 10 27128595 27128595 insertion of <=200bp - AAT intron_variant SKCA-BR 10 27129206 27129206 single base substitution C T intron_variant SKCA-BR 10 27132408 27132424 deletion of <=200bp AAAAAAAATATATATAT - intron_variant SKCA-BR 10 27132409 27132422 deletion of <=200bp AAAAAAATATATAT - intron_variant SKCA-BR 10 27132603 27132603 single base substitution C T intron_variant SKCA-BR 10 27137149 27137155 deletion of <=200bp AAAGAAG - intron_variant SKCA-BR 10 27137315 27137315 single base substitution T A intron_variant SKCA-BR 10 27139670 27139670 single base substitution G A intron_variant SKCA-BR 10 27140277 27140277 insertion of <=200bp - ATT intron_variant SKCA-BR 10 27142385 27142385 single base substitution G A intron_variant SKCA-BR 10 27142458 27142462 deletion of <=200bp CTTTT - intron_variant SKCA-BR 10 27146572 27146574 deletion of <=200bp CAA - intron_variant SKCA-BR 10 27147465 27147466 deletion of <=200bp AG - intron_variant SKCA-BR 10 27147473 27147473 single base substitution A G intron_variant SKCA-BR 10 27148201 27148201 single base substitution A T intron_variant SKCA-BR 10 27149815 27149815 single base substitution C T 5_prime_UTR_variant SKCA-BR 10 27149815 27149815 single base substitution C T upstream_gene_variant SKCA-BR 10 27154656 27154656 single base substitution T G upstream_gene_variant SKCA-BR 10 27154972 27154973 deletion of <=200bp AG - upstream_gene_variant SKCA-BR 10 27154973 27154973 single base substitution G A upstream_gene_variant SKCM-US 10 27052863 27052863 single base substitution C T intron_variant SKCM-US 10 27052863 27052863 single base substitution C T missense_variant G283R 847G>A SKCM-US 10 27052863 27052863 single base substitution C T missense_variant G284R 850G>A SKCM-US 10 27052863 27052863 single base substitution C T missense_variant G300R 898G>A SKCM-US 10 27052880 27052880 single base substitution G A intron_variant SKCM-US 10 27052880 27052880 single base substitution G A missense_variant S277F 830C>T SKCM-US 10 27052880 27052880 single base substitution G A missense_variant S278F 833C>T SKCM-US 10 27052880 27052880 single base substitution G A missense_variant S294F 881C>T SKCM-US 10 27059205 27059205 single base substitution T C missense_variant S119G 355A>G SKCM-US 10 27059205 27059205 single base substitution T C missense_variant S178G 532A>G SKCM-US 10 27059205 27059205 single base substitution T C missense_variant S183G 547A>G SKCM-US 10 27059205 27059205 single base substitution T C missense_variant S184G 550A>G SKCM-US 10 27059205 27059205 single base substitution T C missense_variant S200G 598A>G SKCM-US 10 27059222 27059222 single base substitution G A missense_variant P113L 338C>T SKCM-US 10 27059222 27059222 single base substitution G A missense_variant P172L 515C>T SKCM-US 10 27059222 27059222 single base substitution G A missense_variant P177L 530C>T SKCM-US 10 27059222 27059222 single base substitution G A missense_variant P178L 533C>T SKCM-US 10 27059222 27059222 single base substitution G A missense_variant P194L 581C>T SKCM-US 10 27066037 27066037 single base substitution G A exon_variant SKCM-US 10 27066037 27066037 single base substitution G A intron_variant SKCM-US 10 27066037 27066037 single base substitution G A missense_variant P140L 419C>T SKCM-US 10 27066037 27066037 single base substitution G A missense_variant P157L 470C>T SKCM-US 10 27149684 27149684 single base substitution A G missense_variant Y37H 109T>C STAD-US 10 27037590 27037592 deletion of <=200bp TTC - disruptive_inframe_deletion KN299N STAD-US 10 27037590 27037592 deletion of <=200bp TTC - disruptive_inframe_deletion KN364N STAD-US 10 27037590 27037592 deletion of <=200bp TTC - disruptive_inframe_deletion KN393N STAD-US 10 27037590 27037592 deletion of <=200bp TTC - disruptive_inframe_deletion KN416N STAD-US 10 27037590 27037592 deletion of <=200bp TTC - disruptive_inframe_deletion KN421N STAD-US 10 27037590 27037592 deletion of <=200bp TTC - disruptive_inframe_deletion KN422N STAD-US 10 27037590 27037592 deletion of <=200bp TTC - disruptive_inframe_deletion KN445N STAD-US 10 27037590 27037592 deletion of <=200bp TTC - disruptive_inframe_deletion KN446N STAD-US 10 27037590 27037592 deletion of <=200bp TTC - disruptive_inframe_deletion KN450N STAD-US 10 27037590 27037592 deletion of <=200bp TTC - disruptive_inframe_deletion KN451N STAD-US 10 27037590 27037592 deletion of <=200bp TTC - disruptive_inframe_deletion KN452N STAD-US 10 27037590 27037592 deletion of <=200bp TTC - disruptive_inframe_deletion KN466N STAD-US 10 27037590 27037592 deletion of <=200bp TTC - disruptive_inframe_deletion KN478N STAD-US 10 27037590 27037592 deletion of <=200bp TTC - disruptive_inframe_deletion KN479N STAD-US 10 27040626 27040626 single base substitution G A missense_variant P239S 715C>T STAD-US 10 27040626 27040626 single base substitution G A missense_variant P304S 910C>T STAD-US 10 27040626 27040626 single base substitution G A missense_variant P333S 997C>T STAD-US 10 27040626 27040626 single base substitution G A missense_variant P356S 1066C>T STAD-US 10 27040626 27040626 single base substitution G A missense_variant P361S 1081C>T STAD-US 10 27040626 27040626 single base substitution G A missense_variant P362S 1084C>T STAD-US 10 27040626 27040626 single base substitution G A missense_variant P385S 1153C>T STAD-US 10 27040626 27040626 single base substitution G A missense_variant P386S 1156C>T STAD-US 10 27040626 27040626 single base substitution G A missense_variant P390S 1168C>T STAD-US 10 27040626 27040626 single base substitution G A missense_variant P391S 1171C>T STAD-US 10 27040626 27040626 single base substitution G A missense_variant P392S 1174C>T STAD-US 10 27040626 27040626 single base substitution G A missense_variant P406S 1216C>T STAD-US 10 27040626 27040626 single base substitution G A missense_variant P418S 1252C>T STAD-US 10 27040626 27040626 single base substitution G A missense_variant P419S 1255C>T STAD-US 10 27057879 27057879 single base substitution T C synonymous_variant P143P 429A>G STAD-US 10 27057879 27057879 single base substitution T C synonymous_variant P202P 606A>G STAD-US 10 27057879 27057879 single base substitution T C synonymous_variant P207P 621A>G STAD-US 10 27057879 27057879 single base substitution T C synonymous_variant P208P 624A>G STAD-US 10 27057879 27057879 single base substitution T C synonymous_variant P224P 672A>G STAD-US 10 27066139 27066139 single base substitution C T exon_variant STAD-US 10 27066139 27066139 single base substitution C T intron_variant STAD-US 10 27066139 27066139 single base substitution C T missense_variant R106Q 317G>A STAD-US 10 27066139 27066139 single base substitution C T missense_variant R123Q 368G>A STAD-US 10 27066140 27066140 single base substitution G A exon_variant STAD-US 10 27066140 27066140 single base substitution G A intron_variant STAD-US 10 27066140 27066140 single base substitution G A stop_gained R106* 316C>T STAD-US 10 27066140 27066140 single base substitution G A stop_gained R123* 367C>T STAD-US 10 27149760 27149760 single base substitution C T synonymous_variant E11E 33G>A THCA-US 10 27035361 27035361 single base substitution C A downstream_gene_variant UCEC-US 10 27035267 27035267 single base substitution T A downstream_gene_variant UCEC-US 10 27037652 27037652 single base substitution T C synonymous_variant T279T 837A>G UCEC-US 10 27037652 27037652 single base substitution T C synonymous_variant T344T 1032A>G UCEC-US 10 27037652 27037652 single base substitution T C synonymous_variant T373T 1119A>G UCEC-US 10 27037652 27037652 single base substitution T C synonymous_variant T396T 1188A>G UCEC-US 10 27037652 27037652 single base substitution T C synonymous_variant T401T 1203A>G UCEC-US 10 27037652 27037652 single base substitution T C synonymous_variant T402T 1206A>G UCEC-US 10 27037652 27037652 single base substitution T C synonymous_variant T425T 1275A>G UCEC-US 10 27037652 27037652 single base substitution T C synonymous_variant T426T 1278A>G UCEC-US 10 27037652 27037652 single base substitution T C synonymous_variant T430T 1290A>G UCEC-US 10 27037652 27037652 single base substitution T C synonymous_variant T431T 1293A>G UCEC-US 10 27037652 27037652 single base substitution T C synonymous_variant T432T 1296A>G UCEC-US 10 27037652 27037652 single base substitution T C synonymous_variant T446T 1338A>G UCEC-US 10 27037652 27037652 single base substitution T C synonymous_variant T458T 1374A>G UCEC-US 10 27037652 27037652 single base substitution T C synonymous_variant T459T 1377A>G UCEC-US 10 27037669 27037669 single base substitution C T missense_variant A274T 820G>A UCEC-US 10 27037669 27037669 single base substitution C T missense_variant A339T 1015G>A UCEC-US 10 27037669 27037669 single base substitution C T missense_variant A368T 1102G>A UCEC-US 10 27037669 27037669 single base substitution C T missense_variant A391T 1171G>A UCEC-US 10 27037669 27037669 single base substitution C T missense_variant A396T 1186G>A UCEC-US 10 27037669 27037669 single base substitution C T missense_variant A397T 1189G>A UCEC-US 10 27037669 27037669 single base substitution C T missense_variant A420T 1258G>A UCEC-US 10 27037669 27037669 single base substitution C T missense_variant A421T 1261G>A UCEC-US 10 27037669 27037669 single base substitution C T missense_variant A425T 1273G>A UCEC-US 10 27037669 27037669 single base substitution C T missense_variant A426T 1276G>A UCEC-US 10 27037669 27037669 single base substitution C T missense_variant A427T 1279G>A UCEC-US 10 27037669 27037669 single base substitution C T missense_variant A441T 1321G>A UCEC-US 10 27037669 27037669 single base substitution C T missense_variant A453T 1357G>A UCEC-US 10 27037669 27037669 single base substitution C T missense_variant A454T 1360G>A UCEC-US 10 27040543 27040543 single base substitution C A missense_variant K266N 798G>T UCEC-US 10 27040543 27040543 single base substitution C A missense_variant K331N 993G>T UCEC-US 10 27040543 27040543 single base substitution C A missense_variant K360N 1080G>T UCEC-US 10 27040543 27040543 single base substitution C A missense_variant K383N 1149G>T UCEC-US 10 27040543 27040543 single base substitution C A missense_variant K388N 1164G>T UCEC-US 10 27040543 27040543 single base substitution C A missense_variant K389N 1167G>T UCEC-US 10 27040543 27040543 single base substitution C A missense_variant K412N 1236G>T UCEC-US 10 27040543 27040543 single base substitution C A missense_variant K413N 1239G>T UCEC-US 10 27040543 27040543 single base substitution C A missense_variant K417N 1251G>T UCEC-US 10 27040543 27040543 single base substitution C A missense_variant K418N 1254G>T UCEC-US 10 27040543 27040543 single base substitution C A missense_variant K419N 1257G>T UCEC-US 10 27040543 27040543 single base substitution C A missense_variant K433N 1299G>T UCEC-US 10 27040543 27040543 single base substitution C A missense_variant K445N 1335G>T UCEC-US 10 27040543 27040543 single base substitution C A missense_variant K446N 1338G>T UCEC-US 10 27040684 27040684 single base substitution T C synonymous_variant P219P 657A>G UCEC-US 10 27040684 27040684 single base substitution T C synonymous_variant P284P 852A>G UCEC-US 10 27040684 27040684 single base substitution T C synonymous_variant P313P 939A>G UCEC-US 10 27040684 27040684 single base substitution T C synonymous_variant P336P 1008A>G UCEC-US 10 27040684 27040684 single base substitution T C synonymous_variant P341P 1023A>G UCEC-US 10 27040684 27040684 single base substitution T C synonymous_variant P342P 1026A>G UCEC-US 10 27040684 27040684 single base substitution T C synonymous_variant P365P 1095A>G UCEC-US 10 27040684 27040684 single base substitution T C synonymous_variant P366P 1098A>G UCEC-US 10 27040684 27040684 single base substitution T C synonymous_variant P370P 1110A>G UCEC-US 10 27040684 27040684 single base substitution T C synonymous_variant P371P 1113A>G UCEC-US 10 27040684 27040684 single base substitution T C synonymous_variant P372P 1116A>G UCEC-US 10 27040684 27040684 single base substitution T C synonymous_variant P386P 1158A>G UCEC-US 10 27040684 27040684 single base substitution T C synonymous_variant P398P 1194A>G UCEC-US 10 27040684 27040684 single base substitution T C synonymous_variant P399P 1197A>G UCEC-US 10 27066126 27066126 single base substitution A G exon_variant UCEC-US 10 27066126 27066126 single base substitution A G intron_variant UCEC-US 10 27066126 27066126 single base substitution A G synonymous_variant G110G 330T>C UCEC-US 10 27066126 27066126 single base substitution A G synonymous_variant G127G 381T>C UCEC-US 10 27112187 27112187 single base substitution G T exon_variant UCEC-US 10 27112187 27112187 single base substitution G T synonymous_variant T55T 165C>A UCEC-US 10 27112187 27112187 single base substitution G T synonymous_variant T72T 216C>A UCEC-US 10 27149700 27149700 single base substitution G A synonymous_variant D31D 93C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-FD-A3SN-01 COSM3790701 c.914C>T p.S305L Substitution - Missense 10:26759226-26759226 - TCGA-CK-5916-01 COSM3686691 c.909G>A p.P303P Substitution - coding silent 10:26759231-26759231 - CSCC-44-T COSM4504639 c.619C>T p.P207S Substitution - Missense 10:26768952-26768952 - CSCC-7-T COSM4462158 c.1235C>T p.P412L Substitution - Missense 10:26751714-26751714 - T2932 COSM4658528 c.516G>A p.S172S Substitution - coding silent 10:26770307-26770307 - TCGA-D1-A16X-01 COSM917354 c.1335G>T p.K445N Substitution - Missense 10:26751614-26751614 - PD9539a COSM5789459 c.898A>C p.I300L Substitution - Missense 10:26763883-26763883 - TCGA-22-5477-01 COSM683540 c.1187C>T p.P396L Substitution - Missense 10:26751762-26751762 - TCGA-21-5782-01 COSM683536 c.254G>A p.R85K Substitution - Missense 10:26823169-26823169 - TCGA-AX-A05Z-01 COSM917354 c.1335G>T p.K445N Substitution - Missense 10:26751614-26751614 - TCGA-FP-7829-01 COSM4013525 c.621A>G p.P207P Substitution - coding silent 10:26768950-26768950 - TCGA-D7-6524-01 COSM4013524 c.1252C>T p.P418S Substitution - Missense 10:26751697-26751697 - TCGA-AN-A046-01 COSM3806972 c.980C>T p.S327L Substitution - Missense 10:26759160-26759160 - TCGA-BS-A0U7-01 COSM917352 c.1374A>G p.T458T Substitution - coding silent 10:26748723-26748723 - TCGA-BR-8680-01 COSM2134198 c.317G>A p.R106Q Substitution - Missense 10:26777210-26777210 - pfg121T COSM4751591 c.919C>A p.P307T Substitution - Missense 10:26759221-26759221 - TCGA-GV-A3QI-01 COSM1297190 c.845C>A p.S282Y Substitution - Missense 10:26763936-26763936 - TCGA-BH-A0H9-01 COSM427420 c.1240C>T p.P414S Substitution - Missense 10:26751709-26751709 - TCGA-B5-A0JY-01 COSM917354 c.1335G>T p.K445N Substitution - Missense 10:26751614-26751614 - TCGA-B5-A11E-01 COSM917359 c.93C>T p.D31D Substitution - coding silent 10:26860771-26860771 - TCGA-HM-A3JK-01 COSM4854944 c.192A>G p.Q64Q Substitution - coding silent 10:26823231-26823231 - S06-38853-TP COSM4989945 c.398C>T p.P133L Substitution - Missense 10:26777129-26777129 - TCGA-E2-A14N-01 COSM427421 c.895G>T p.V299L Substitution - Missense 10:26763886-26763886 - TCGA-AX-A060-01 COSM917358 c.165C>A p.T55T Substitution - coding silent 10:26823258-26823258 - ME011T COSM224366 c.719+1G>A p.? Unknown 10:26768851-26768851 - HN_62814 COSM120825 c.1297G>A p.D433N Substitution - Missense 10:26751652-26751652 - GC_297_T-GC_297_N COSM3730761 c.720-9delT p.? Unknown 10:26765327-26765327 - GC1_T COSM3748501 c.1480C>A p.L494M Substitution - Missense 10:26748617-26748617 - T613 COSM3686691 c.909G>A p.P303P Substitution - coding silent 10:26759231-26759231 - SNU-C2B COSM4176818 c.1490G>T p.G497V Substitution - Missense 10:26748607-26748607 - SS6003312 COSM3716692 c.1118C>T p.T373I Substitution - Missense 10:26755702-26755702 - TCGA-D1-A17Q-01 COSM917354 c.1335G>T p.K445N Substitution - Missense 10:26751614-26751614 - TCGA-B5-A0JY-01 COSM917353 c.1357G>A p.A453T Substitution - Missense 10:26748740-26748740 - SH-4435 COSM1721131 c.1252_1254delCCA p.P418delP Deletion - In frame 10:26751695-26751697 - T84 COSM2134193 c.457G>T p.V153F Substitution - Missense 10:26777070-26777070 - TCGA-EE-A29H-06 COSM3436894 c.419C>T p.P140L Substitution - Missense 10:26777108-26777108 - TCGA-AA-3837-01 COSM295113 c.1461C>T p.V487V Substitution - coding silent 10:26748636-26748636 - 2250221 COSM5029424 c.336G>C p.L112F Substitution - Missense 10:26777191-26777191 - S00936 COSM308788 c.395G>A p.R132H Substitution - Missense 10:26777132-26777132 - PT25 COSM5904918 c.569G>A p.G190E Substitution - Missense 10:26770254-26770254 - KPOPBR-46-T COSM5964704 c.1054G>A p.G352S Substitution - Missense 10:26759086-26759086 - TCGA-AX-A0J0-01 COSM917355 c.1194A>G p.P398P Substitution - coding silent 10:26751755-26751755 - TCGA-IR-A3LH-01 COSM4832966 c.830C>G p.S277C Substitution - Missense 10:26763951-26763951 - TCGA-AA-A03J-01 COSM301158 c.209A>G p.N70S Substitution - Missense 10:26823214-26823214 - TCGA-D9-A6EC-06 COSM4401564 c.547A>G p.S183G Substitution - Missense 10:26770276-26770276 - SC_9100 COSM5556407 c.670C>T p.H224Y Substitution - Missense 10:26768901-26768901 - TCGA-HU-A4GY-01 COSM4013527 c.33G>A p.E11E Substitution - coding silent 10:26860831-26860831 - 1_RESISTANT COSM1721131 c.1252_1254delCCA p.P418delP Deletion - In frame 10:26751695-26751697 - TCGA-BR-4362-01 COSM4013526 c.316C>T p.R106* Substitution - Nonsense 10:26777211-26777211 - TCGA-EE-A2MU-06 COSM3436895 c.109T>C p.Y37H Substitution - Missense 10:26860755-26860755 - YUKAT COSM4013524 c.1252C>T p.P418S Substitution - Missense 10:26751697-26751697 - TCGA-51-4080-01 COSM683539 c.478C>T p.H160Y Substitution - Missense 10:26770345-26770345 - TCGA-DK-A1A7-01 COSM415061 c.121A>G p.T41A Substitution - Missense 10:26823302-26823302 - TCGA-CJ-4903-01 COSM465561 c.802C>A p.P268T Substitution - Missense 10:26765236-26765236 - TCGA-FS-A1Z0-06 COSM3436893 c.830C>T p.S277F Substitution - Missense 10:26763951-26763951 - TCGA-GF-A6C8-06 COSM3867071 c.530C>T p.P177L Substitution - Missense 10:26770293-26770293 - PD11342a COSM5801234 c.1393_1404del12 p.L465_M468delLSFM Deletion - In frame 10:26748693-26748704 - 39 COSM5733796 c.854C>T p.P285L Substitution - Missense 10:26763927-26763927 - S02-14875-TP COSM4989944 c.897G>A p.V299V Substitution - coding silent 10:26763884-26763884 - LS411 COSM2134169 c.1163delA p.N388fs*41 Deletion - Frameshift 10:26755657-26755657 - TCGA-EE-A2ML-06 COSM3436892 c.847G>A p.G283R Substitution - Missense 10:26763934-26763934 - TCGA-CZ-5470-01 COSM465562 c.392A>G p.E131G Substitution - Missense 10:26777135-26777135 - Pat_40_A COSM5836720 c.1468C>T p.R490* Substitution - Nonsense 10:26748629-26748629 - TCGA-CA-6717-01 COSM917354 c.1335G>T p.K445N Substitution - Missense 10:26751614-26751614 - TCGA-AP-A056-01 COSM917357 c.330T>C p.G110G Substitution - coding silent 10:26777197-26777197 - QC2-05-T2 COSM5651943 c.584A>G p.N195S Substitution - Missense 10:26768987-26768987 - PTC-10C COSM4144612 c.38C>A p.P13Q Substitution - Missense 10:26860826-26860826 - TCGA-BT-A2LB-01 COSM3790702 c.95A>G p.Y32C Substitution - Missense 10:26860769-26860769 - TCGA-51-4080-01 COSM683537 c.478-1G>T p.? Unknown 10:26770346-26770346 - sysucc-1062T COSM5763347 c.579-10G>A p.? Unknown 10:26769002-26769002 - BD143T COSM170260 c.958C>T p.R320* Substitution - Nonsense 10:26759182-26759182 - 587400 COSM1181420 c.412C>T p.R138W Substitution - Missense 10:26777115-26777115 - TCGA-09-1673-01 COSM1321400 c.1096C>T p.P366S Substitution - Missense 10:26755724-26755724 - 234 COSM3730761 c.720-9delT p.? Unknown 10:26765327-26765327 - YUKAT COSM5370499 c.919C>T p.P307S Substitution - Missense 10:26759221-26759221 - SNU-C4 COSM4651779 c.74A>G p.N25S Substitution - Missense 10:26860790-26860790 - Pat_06_A COSM5836721 c.338C>G p.T113R Substitution - Missense 10:26777189-26777189 - LUAD-NYU1026 COSM368280 c.390G>C p.M130I Substitution - Missense 10:26777137-26777137 - TCGA-D1-A17D-01 COSM917356 c.371T>C p.I124T Substitution - Missense 10:26777156-26777156 - Pat_26_B COSM1721131 c.1252_1254delCCA p.P418delP Deletion - In frame 10:26751695-26751697 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.508115;Hs.508117;Hs.508131;Hs.508145;Hs.508148 10p11.2 603050

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C IntronicSNV . c.118-13326T>G 10 27125560 CLL A G 3-UTRSNV . c.1524+1248T>C 10 27036254 HC A G Missense p.Y37H c.109T>C 10 27149684 CM A - IntronicDeletion . c.463-13delT 10 27060031 STAD C A Missense p.R194L c.581G>T 10 27057919 CM C A Missense p.V299L c.895G>T 10 27052815 BRCA C A SpliceAcceptorSNV . c.478-1G>T 10 27059275 LUSC C T 5-UTRSNV . c.1-18G>A 10 27149810 STAD C T IntronicSNV . c.117+2944G>A 10 27146732 CLL C T Missense p.D433N c.1297G>A 10 27040581 HNSC C T Missense p.G283R c.847G>A 10 27052863 CM C T Missense p.G332E c.995G>A 10 27048074 CM C T Missense p.R132H c.395G>A 10 27066061 SCLC C T Missense p.R173K c.518G>A 10 27059234 HNSC C T Missense p.R85K c.254G>A 10 27112098 LUSC C T SpliceAcceptorSNV . c.118-1G>A 10 27112235 LUAD G A Missense p.H160Y c.478C>T 10 27059274 LUSC G A Missense p.P140L c.419C>T 10 27066037 CM G A Missense p.P203L c.608C>T 10 27057892 CM G A Missense p.P396L c.1187C>T 10 27040691 LUSC G A Missense p.P414S c.1240C>T 10 27040638 BRCA G A Missense p.P418S c.1252C>T 10 27040626 STAD G A Missense p.S277F c.830C>T 10 27052880 CM G A Missense p.S305L c.914C>T 10 27048155 HNSC G A Missense p.S309F c.926C>T 10 27048143 HNSC G A Synonymous p.V487V c.1461C>T 10 27037565 COREAD G T Missense p.P268T c.802C>A 10 27054165 RCCC G T Missense p.S282Y c.845C>A 10 27052865 BLCA G T Synonymous p.I141I c.423C>A 10 27066033 CM G T Synonymous p.T55T c.165C>A 10 27112187 UCEC T A IntronicSNV . c.463-1938A>T 10 27061956 CLL T A Synonymous p.P353P c.1059A>T 10 27048010 LUAD T C IntronicSNV . c.463-1984A>G 10 27062002 CLL T C Missense p.N70S c.209A>G 10 27112143 COREAD T C Missense p.T41A c.121A>G 10 27112231 BLCA T C Missense p.Y32C c.95A>G 10 27149698 BLCA T C Synonymous p.T458T c.1374A>G 10 27037652 UCEC