Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 11 33763481 33763481 + Silent SNP G G A TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chr11:33763481G>A c.1389C>T c.(1387-1389)cgC>cgT p.R463R BLCA 11 33763508 33763508 + Silent SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 g.chr11:33763508C>G c.1362G>C c.(1360-1362)cgG>cgC p.R454R BLCA 11 33772145 33772145 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr11:33772145G>A c.872C>T c.(871-873)tCg>tTg p.S291L BLCA 11 33792317 33792317 + Missense_Mutation SNP C C T TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chr11:33792317C>T c.164G>A c.(163-165)aGa>aAa p.R55K BRCA 11 33790504 33790504 + Missense_Mutation SNP G G C TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 g.chr11:33790504G>C c.251C>G c.(250-252)tCt>tGt p.S84C BRCA 11 33795959 33795959 + Missense_Mutation SNP C C T TCGA-A2-A0YG-01A-21D-A10G-09 TCGA-A2-A0YG-10A-01D-A10G-09 g.chr11:33795959C>T c.85G>A c.(85-87)Gac>Aac p.D29N BRCA 11 33795989 33795989 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 g.chr11:33795989C>T c.55G>A c.(55-57)Gat>Aat p.D19N CESC 11 33763601 33763601 + Missense_Mutation SNP C C A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 g.chr11:33763601C>A c.1269G>T c.(1267-1269)atG>atT p.M423I COAD 11 33763464 33763464 + Missense_Mutation SNP C C T TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr11:33763464C>T c.1406G>A c.(1405-1407)cGc>cAc p.R469H COAD 11 33790443 33790443 + Missense_Mutation SNP C C A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr11:33790443C>A c.312G>T c.(310-312)aaG>aaT p.K104N COAD 11 33790479 33790479 + Missense_Mutation SNP A A C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr11:33790479A>C c.276T>G c.(274-276)caT>caG p.H92Q COADREAD 11 33763464 33763464 + Missense_Mutation SNP C C T TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr11:33763464C>T c.1406G>A c.(1405-1407)cGc>cAc p.R469H COADREAD 11 33777486 33777486 + Missense_Mutation SNP C C T TCGA-AG-A025-01A-01W-A00E-09 TCGA-AG-A025-10A-01W-A00E-09 g.chr11:33777486C>T c.509G>A c.(508-510)cGt>cAt p.R170H COADREAD 11 33790443 33790443 + Missense_Mutation SNP C C A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr11:33790443C>A c.312G>T c.(310-312)aaG>aaT p.K104N COADREAD 11 33790479 33790479 + Missense_Mutation SNP A A C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr11:33790479A>C c.276T>G c.(274-276)caT>caG p.H92Q ESCA 11 33763561 33763561 + Missense_Mutation SNP C C G TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 g.chr11:33763561C>G c.1309G>C c.(1309-1311)Gat>Cat p.D437H ESCA 11 33770429 33770429 + Missense_Mutation SNP C C T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 g.chr11:33770429C>T c.942G>A c.(940-942)atG>atA p.M314I ESCA 11 33777435 33777435 + Missense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 g.chr11:33777435C>T c.560G>A c.(559-561)aGa>aAa p.R187K ESCA 11 33792357 33792357 + Nonsense_Mutation SNP T T A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 g.chr11:33792357T>A c.124A>T c.(124-126)Aga>Tga p.R42* HNSC 11 33768700 33768700 + Silent SNP T T C TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 g.chr11:33768700T>C c.1215A>G c.(1213-1215)acA>acG p.T405T HNSC 11 33768826 33768826 + Silent SNP G G A TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 g.chr11:33768826G>A c.1089C>T c.(1087-1089)taC>taT p.Y363Y HNSC 11 33768856 33768856 + Silent SNP T T C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 g.chr11:33768856T>C c.1059A>G c.(1057-1059)ccA>ccG p.P353P HNSC 11 33772131 33772131 + Missense_Mutation SNP G G C TCGA-CN-5366-01A-01D-1434-08 TCGA-CN-5366-10A-01D-1434-08 g.chr11:33772131G>C c.886C>G c.(886-888)Ctt>Gtt p.L296V HNSC 11 33772198 33772198 + Silent SNP G G A TCGA-MT-A67G-01A-11D-A30E-08 TCGA-MT-A67G-10A-01D-A30H-08 g.chr11:33772198G>A c.819C>T c.(817-819)caC>caT p.H273H KICH 11 33770354 33770354 + Silent SNP G G A TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr11:33770354G>A c.1017C>T c.(1015-1017)gaC>gaT p.D339D KIPAN 11 33770331 33770331 + Missense_Mutation SNP C C T TCGA-B9-A44B-01A-11D-A25F-10 TCGA-B9-A44B-10A-01D-A25F-10 g.chr11:33770331C>T c.1040G>A c.(1039-1041)gGa>gAa p.G347E KIPAN 11 33770334 33770334 + Missense_Mutation SNP G G T TCGA-DW-7838-01A-11D-2136-08 TCGA-DW-7838-10A-01D-2136-08 g.chr11:33770334G>T c.1037C>A c.(1036-1038)cCt>cAt p.P346H KIPAN 11 33770354 33770354 + Silent SNP G G A TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr11:33770354G>A c.1017C>T c.(1015-1017)gaC>gaT p.D339D KIPAN 11 33790514 33790514 + Missense_Mutation SNP C C A TCGA-CJ-5683-01A-11D-1534-10 TCGA-CJ-5683-11A-01D-1535-10 g.chr11:33790514C>A c.241G>T c.(241-243)Gat>Tat p.D81Y KIPAN 11 33792303 33792304 + Frame_Shift_Ins INS - - T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr11:33792303_33792304insT c.177_178insA c.(175-180)aaatacfs p.Y60fs KIRC 11 33790514 33790514 + Missense_Mutation SNP C C A TCGA-CJ-5683-01A-11D-1534-10 TCGA-CJ-5683-11A-01D-1535-10 g.chr11:33790514C>A c.241G>T c.(241-243)Gat>Tat p.D81Y KIRC 11 33792303 33792304 + Frame_Shift_Ins INS - - T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr11:33792303_33792304insT c.177_178insA c.(175-180)aaatacfs p.Y60fs KIRP 11 33770331 33770331 + Missense_Mutation SNP C C T TCGA-B9-A44B-01A-11D-A25F-10 TCGA-B9-A44B-10A-01D-A25F-10 g.chr11:33770331C>T c.1040G>A c.(1039-1041)gGa>gAa p.G347E KIRP 11 33770334 33770334 + Missense_Mutation SNP G G T TCGA-DW-7838-01A-11D-2136-08 TCGA-DW-7838-10A-01D-2136-08 g.chr11:33770334G>T c.1037C>A c.(1036-1038)cCt>cAt p.P346H LIHC 11 33763518 33763518 + Missense_Mutation SNP T T C TCGA-ES-A2HS-01A-11D-A183-10 TCGA-ES-A2HS-11A-11D-A183-10 g.chr11:33763518T>C c.1352A>G c.(1351-1353)gAg>gGg p.E451G LIHC 11 33770421 33770421 + Missense_Mutation SNP T T C TCGA-FV-A2QR-01A-11D-A20W-10 TCGA-FV-A2QR-11A-11D-A20W-10 g.chr11:33770421T>C c.950A>G c.(949-951)gAt>gGt p.D317G LIHC 11 33790501 33790501 + Missense_Mutation SNP T T C TCGA-DD-A39X-01A-11D-A20W-10 TCGA-DD-A39X-11A-11D-A20W-10 g.chr11:33790501T>C c.254A>G c.(253-255)gAt>gGt p.D85G LUAD 11 33763479 33763479 + Missense_Mutation SNP C C A TCGA-55-8085-01A-11D-2238-08 TCGA-55-8085-10A-01D-2238-08 g.chr11:33763479C>A c.1391G>T c.(1390-1392)aGa>aTa p.R464I LUAD 11 33768852 33768852 + Missense_Mutation SNP T T A TCGA-50-5930-01A-11D-1753-08 TCGA-50-5930-11A-01D-1753-08 g.chr11:33768852T>A c.1063A>T c.(1063-1065)Atc>Ttc p.I355F LUAD 11 33777464 33777464 + Silent SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 g.chr11:33777464G>A c.531C>T c.(529-531)gtC>gtT p.V177V LUAD 11 33790492 33790492 + Missense_Mutation SNP C C G TCGA-86-8056-01A-11D-2238-08 TCGA-86-8056-10A-01D-2238-08 g.chr11:33790492C>G c.263G>C c.(262-264)aGa>aCa p.R88T LUAD 11 33790518 33790518 + Silent SNP G G A TCGA-17-Z045-01A-01W-0746-08 TCGA-17-Z045-11A-01W-0747-08 g.chr11:33790518G>A c.237C>T c.(235-237)ttC>ttT p.F79F LUAD 11 33792333 33792333 + Missense_Mutation SNP C C A TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr11:33792333C>A c.148G>T c.(148-150)Gat>Tat p.D50Y LUSC 11 33763558 33763558 + Missense_Mutation SNP C C G TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 g.chr11:33763558C>G c.1312G>C c.(1312-1314)Gat>Cat p.D438H PAAD 11 33763529 33763529 + Silent SNP T T C TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 g.chr11:33763529T>C c.1341A>G c.(1339-1341)gaA>gaG p.E447E PAAD 11 33763531 33763531 + Missense_Mutation SNP C C T TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 g.chr11:33763531C>T c.1339G>A c.(1339-1341)Gaa>Aaa p.E447K READ 11 33777486 33777486 + Missense_Mutation SNP C C T TCGA-AG-A025-01A-01W-A00E-09 TCGA-AG-A025-10A-01W-A00E-09 g.chr11:33777486C>T c.509G>A c.(508-510)cGt>cAt p.R170H SARC 11 33773135 33773135 + Nonsense_Mutation SNP C C T TCGA-3B-A9HI-01A-11D-A387-09 TCGA-3B-A9HI-10A-01D-A38A-09 g.chr11:33773135C>T c.743G>A c.(742-744)tGg>tAg p.W248* SKCM 11 33768802 33768802 + Silent SNP T T C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr11:33768802T>C c.1113A>G c.(1111-1113)acA>acG p.T371T SKCM 11 33777415 33777415 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr11:33777415G>A c.580C>T c.(580-582)Ctc>Ttc p.L194F SKCM 11 33777442 33777442 + Nonsense_Mutation SNP G G A TCGA-D3-A3C8-06A-12D-A19A-08 TCGA-D3-A3C8-10A-01D-A19A-08 g.chr11:33777442G>A c.553C>T c.(553-555)Cag>Tag p.Q185* SKCM 11 33790420 33790420 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 g.chr11:33790420G>A c.335C>T c.(334-336)cCt>cTt p.P112L SKCM 11 33790446 33790446 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 g.chr11:33790446G>A c.309C>T c.(307-309)ctC>ctT p.L103L SKCM 11 33795990 33795990 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 g.chr11:33795990G>A c.54C>T c.(52-54)acC>acT p.T18T SKCM 11 33795991 33795991 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 g.chr11:33795991G>A c.53C>T c.(52-54)aCc>aTc p.T18I

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 11 33773138 33773138 single base substitution T G 3_prime_UTR_variant BLCA-CN 11 33773138 33773138 single base substitution T G 5_prime_UTR_variant BLCA-CN 11 33773138 33773138 single base substitution T G downstream_gene_variant BLCA-CN 11 33773138 33773138 single base substitution T G exon_variant BLCA-CN 11 33773138 33773138 single base substitution T G missense_variant D134A 401A>C BLCA-CN 11 33773138 33773138 single base substitution T G missense_variant D242A 725A>C BLCA-CN 11 33773138 33773138 single base substitution T G missense_variant D247A 740A>C BLCA-CN 11 33773138 33773138 single base substitution T G upstream_gene_variant BLCA-US 11 33763508 33763508 single base substitution C G 3_prime_UTR_variant BLCA-US 11 33763508 33763508 single base substitution C G downstream_gene_variant BLCA-US 11 33763508 33763508 single base substitution C G exon_variant BLCA-US 11 33763508 33763508 single base substitution C G synonymous_variant R141R 423G>C BLCA-US 11 33763508 33763508 single base substitution C G synonymous_variant R341R 1023G>C BLCA-US 11 33763508 33763508 single base substitution C G synonymous_variant R454R 1362G>C BLCA-US 11 33772145 33772145 single base substitution G A 3_prime_UTR_variant BLCA-US 11 33772145 33772145 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant BLCA-US 11 33772145 33772145 single base substitution G A exon_variant BLCA-US 11 33772145 33772145 single base substitution G A missense_variant S178L 533C>T BLCA-US 11 33772145 33772145 single base substitution G A missense_variant S286L 857C>T BLCA-US 11 33772145 33772145 single base substitution G A missense_variant S291L 872C>T BLCA-US 11 33772145 33772145 single base substitution G A upstream_gene_variant BRCA-EU 11 33757667 33757667 single base substitution G T downstream_gene_variant BRCA-EU 11 33757724 33757766 deletion of <=200bp GATAAAATGAAGCCAGCGTTCGGCTAGGACACCGGGCCGCGGT - downstream_gene_variant BRCA-EU 11 33759072 33759072 single base substitution G A downstream_gene_variant BRCA-EU 11 33759504 33759504 single base substitution G A downstream_gene_variant BRCA-EU 11 33759796 33759796 single base substitution G C downstream_gene_variant BRCA-EU 11 33760875 33760875 single base substitution G A downstream_gene_variant BRCA-EU 11 33762542 33762542 single base substitution C T 3_prime_UTR_variant BRCA-EU 11 33762542 33762542 single base substitution C T downstream_gene_variant BRCA-EU 11 33762542 33762542 single base substitution C T exon_variant BRCA-EU 11 33763716 33763716 single base substitution C G 3_prime_UTR_variant BRCA-EU 11 33763716 33763716 single base substitution C G downstream_gene_variant BRCA-EU 11 33763716 33763716 single base substitution C G intron_variant BRCA-EU 11 33764213 33764213 single base substitution A G 3_prime_UTR_variant BRCA-EU 11 33764213 33764213 single base substitution A G downstream_gene_variant BRCA-EU 11 33764213 33764213 single base substitution A G intron_variant BRCA-EU 11 33765034 33765034 single base substitution C T 3_prime_UTR_variant BRCA-EU 11 33765034 33765034 single base substitution C T downstream_gene_variant BRCA-EU 11 33765034 33765034 single base substitution C T intron_variant BRCA-EU 11 33765376 33765376 single base substitution C G 3_prime_UTR_variant BRCA-EU 11 33765376 33765376 single base substitution C G downstream_gene_variant BRCA-EU 11 33765376 33765376 single base substitution C G intron_variant BRCA-EU 11 33767102 33767102 single base substitution G C 3_prime_UTR_variant BRCA-EU 11 33767102 33767102 single base substitution G C downstream_gene_variant BRCA-EU 11 33767102 33767102 single base substitution G C intron_variant BRCA-EU 11 33772008 33772008 single base substitution C G intron_variant BRCA-EU 11 33772008 33772008 single base substitution C G upstream_gene_variant BRCA-EU 11 33780789 33780789 single base substitution G C downstream_gene_variant BRCA-EU 11 33780789 33780789 single base substitution G C intron_variant BRCA-EU 11 33781284 33781284 single base substitution C G downstream_gene_variant BRCA-EU 11 33781284 33781284 single base substitution C G intron_variant BRCA-EU 11 33781887 33781887 single base substitution C T downstream_gene_variant BRCA-EU 11 33781887 33781887 single base substitution C T intron_variant BRCA-EU 11 33782688 33782688 deletion of <=200bp A - downstream_gene_variant BRCA-EU 11 33782688 33782688 deletion of <=200bp A - intron_variant BRCA-EU 11 33783073 33783073 deletion of <=200bp A - downstream_gene_variant BRCA-EU 11 33783073 33783073 deletion of <=200bp A - intron_variant BRCA-EU 11 33783451 33783451 single base substitution T C downstream_gene_variant BRCA-EU 11 33783451 33783451 single base substitution T C intron_variant BRCA-EU 11 33784662 33784662 single base substitution A G downstream_gene_variant BRCA-EU 11 33784662 33784662 single base substitution A G intron_variant BRCA-EU 11 33784785 33784785 single base substitution C A 3_prime_UTR_variant BRCA-EU 11 33784785 33784785 single base substitution C A exon_variant BRCA-EU 11 33784785 33784785 single base substitution C A intron_variant BRCA-EU 11 33785589 33785589 single base substitution G C intron_variant BRCA-EU 11 33785645 33785645 single base substitution A C intron_variant BRCA-EU 11 33785834 33785834 single base substitution A C intron_variant BRCA-EU 11 33788396 33788396 single base substitution A C intron_variant BRCA-EU 11 33788841 33788841 single base substitution T G intron_variant BRCA-EU 11 33789976 33789976 single base substitution G T intron_variant BRCA-EU 11 33790360 33790360 single base substitution A G intron_variant BRCA-EU 11 33791272 33791272 single base substitution G A intron_variant BRCA-EU 11 33791878 33791878 single base substitution C T intron_variant BRCA-EU 11 33791941 33791941 single base substitution C T intron_variant BRCA-EU 11 33792173 33792173 single base substitution G A intron_variant BRCA-EU 11 33792213 33792213 single base substitution G C intron_variant BRCA-EU 11 33792288 33792288 single base substitution C T missense_variant E60K 178G>A BRCA-EU 11 33792288 33792288 single base substitution C T missense_variant E65K 193G>A BRCA-EU 11 33792288 33792288 single base substitution C T splice_region_variant BRCA-EU 11 33793978 33793978 single base substitution C T 5_prime_UTR_variant BRCA-EU 11 33793978 33793978 single base substitution C T intron_variant BRCA-EU 11 33793978 33793978 single base substitution C T upstream_gene_variant BRCA-EU 11 33795688 33795688 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 11 33795688 33795688 single base substitution G A intron_variant BRCA-EU 11 33795688 33795688 single base substitution G A upstream_gene_variant BRCA-EU 11 33798001 33798001 deletion of <=200bp A - upstream_gene_variant BRCA-EU 11 33798245 33798245 single base substitution C A upstream_gene_variant BRCA-EU 11 33798758 33798758 single base substitution G A upstream_gene_variant BRCA-EU 11 33799304 33799304 single base substitution T A upstream_gene_variant BRCA-FR 11 33772008 33772008 single base substitution C G intron_variant BRCA-FR 11 33772008 33772008 single base substitution C G upstream_gene_variant BRCA-FR 11 33776920 33776920 single base substitution G T downstream_gene_variant BRCA-FR 11 33776920 33776920 single base substitution G T intron_variant BRCA-FR 11 33776920 33776920 single base substitution G T upstream_gene_variant BRCA-FR 11 33781887 33781887 single base substitution C T downstream_gene_variant BRCA-FR 11 33781887 33781887 single base substitution C T intron_variant BRCA-FR 11 33788198 33788198 single base substitution G C intron_variant BRCA-FR 11 33791941 33791941 single base substitution C T intron_variant BRCA-FR 11 33794087 33794087 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant BRCA-FR 11 33794087 33794087 single base substitution G A intron_variant BRCA-FR 11 33794087 33794087 single base substitution G A upstream_gene_variant BRCA-UK 11 33759504 33759504 single base substitution G A downstream_gene_variant BRCA-UK 11 33759796 33759796 single base substitution G C downstream_gene_variant BRCA-UK 11 33772157 33772157 single base substitution G A 3_prime_UTR_variant BRCA-UK 11 33772157 33772157 single base substitution G A 5_prime_UTR_variant BRCA-UK 11 33772157 33772157 single base substitution G A exon_variant BRCA-UK 11 33772157 33772157 single base substitution G A missense_variant S174L 521C>T BRCA-UK 11 33772157 33772157 single base substitution G A missense_variant S282L 845C>T BRCA-UK 11 33772157 33772157 single base substitution G A missense_variant S287L 860C>T BRCA-UK 11 33772157 33772157 single base substitution G A upstream_gene_variant BRCA-UK 11 33788396 33788396 single base substitution A C intron_variant BRCA-UK 11 33793978 33793978 single base substitution C T 5_prime_UTR_variant BRCA-UK 11 33793978 33793978 single base substitution C T intron_variant BRCA-UK 11 33793978 33793978 single base substitution C T upstream_gene_variant BRCA-UK 11 33799304 33799304 single base substitution T A upstream_gene_variant BRCA-US 11 33790504 33790504 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant BRCA-US 11 33790504 33790504 single base substitution G C exon_variant BRCA-US 11 33790504 33790504 single base substitution G C missense_variant S79C 236C>G BRCA-US 11 33790504 33790504 single base substitution G C missense_variant S84C 251C>G BRCA-US 11 33795959 33795959 single base substitution C T exon_variant BRCA-US 11 33795959 33795959 single base substitution C T missense_variant D29N 85G>A BRCA-US 11 33795959 33795959 single base substitution C T upstream_gene_variant BRCA-US 11 33795989 33795989 single base substitution C T exon_variant BRCA-US 11 33795989 33795989 single base substitution C T missense_variant D19N 55G>A BRCA-US 11 33795989 33795989 single base substitution C T upstream_gene_variant BTCA-JP 11 33770276 33770276 single base substitution T A intron_variant BTCA-JP 11 33778446 33778446 single base substitution T C downstream_gene_variant BTCA-JP 11 33778446 33778446 single base substitution T C intron_variant BTCA-JP 11 33778446 33778446 single base substitution T C upstream_gene_variant BTCA-JP 11 33778615 33778615 insertion of <=200bp - GATC downstream_gene_variant BTCA-JP 11 33778615 33778615 insertion of <=200bp - GATC intron_variant BTCA-JP 11 33778615 33778615 insertion of <=200bp - GATC upstream_gene_variant BTCA-JP 11 33784885 33784885 single base substitution T C intron_variant BTCA-JP 11 33792084 33792084 single base substitution T C intron_variant CESC-US 11 33763601 33763601 single base substitution C A 3_prime_UTR_variant CESC-US 11 33763601 33763601 single base substitution C A downstream_gene_variant CESC-US 11 33763601 33763601 single base substitution C A exon_variant CESC-US 11 33763601 33763601 single base substitution C A missense_variant M110I 330G>T CESC-US 11 33763601 33763601 single base substitution C A missense_variant M310I 930G>T CESC-US 11 33763601 33763601 single base substitution C A missense_variant M423I 1269G>T CESC-US 11 33795773 33795773 single base substitution C T 5_prime_UTR_variant CESC-US 11 33795773 33795773 single base substitution C T exon_variant CESC-US 11 33795773 33795773 single base substitution C T intron_variant CESC-US 11 33795773 33795773 single base substitution C T upstream_gene_variant CLLE-ES 11 33800080 33800080 single base substitution C T upstream_gene_variant COCA-CN 11 33761950 33761950 single base substitution G A downstream_gene_variant COCA-CN 11 33767885 33767885 single base substitution C A 3_prime_UTR_variant COCA-CN 11 33767885 33767885 single base substitution C A downstream_gene_variant COCA-CN 11 33767885 33767885 single base substitution C A intron_variant COCA-CN 11 33768189 33768189 single base substitution T C 3_prime_UTR_variant COCA-CN 11 33768189 33768189 single base substitution T C downstream_gene_variant COCA-CN 11 33768189 33768189 single base substitution T C intron_variant COCA-CN 11 33768189 33768189 single base substitution T C missense_variant T418A 1252A>G COCA-CN 11 33770309 33770309 single base substitution C A intron_variant COCA-CN 11 33771174 33771174 single base substitution T G intron_variant COCA-CN 11 33771174 33771174 single base substitution T G upstream_gene_variant COCA-CN 11 33772080 33772080 single base substitution C T splice_region_variant COCA-CN 11 33772080 33772080 single base substitution C T upstream_gene_variant COCA-CN 11 33772271 33772271 single base substitution A C intron_variant COCA-CN 11 33772271 33772271 single base substitution A C upstream_gene_variant COCA-CN 11 33775942 33775942 single base substitution T A downstream_gene_variant COCA-CN 11 33775942 33775942 single base substitution T A exon_variant COCA-CN 11 33775942 33775942 single base substitution T A intron_variant COCA-CN 11 33775942 33775942 single base substitution T A upstream_gene_variant COCA-CN 11 33777452 33777452 single base substitution G A downstream_gene_variant COCA-CN 11 33777452 33777452 single base substitution G A exon_variant COCA-CN 11 33777452 33777452 single base substitution G A intron_variant COCA-CN 11 33777452 33777452 single base substitution G A synonymous_variant A176A 528C>T COCA-CN 11 33777452 33777452 single base substitution G A synonymous_variant A181A 543C>T COCA-CN 11 33777452 33777452 single base substitution G A synonymous_variant A68A 204C>T COCA-CN 11 33777452 33777452 single base substitution G A upstream_gene_variant COCA-CN 11 33778731 33778731 single base substitution C A downstream_gene_variant COCA-CN 11 33778731 33778731 single base substitution C A intron_variant COCA-CN 11 33778731 33778731 single base substitution C A upstream_gene_variant COCA-CN 11 33780195 33780195 single base substitution C A downstream_gene_variant COCA-CN 11 33780195 33780195 single base substitution C A intron_variant COCA-CN 11 33780486 33780486 single base substitution G A downstream_gene_variant COCA-CN 11 33780486 33780486 single base substitution G A intron_variant COCA-CN 11 33784735 33784735 single base substitution A C downstream_gene_variant COCA-CN 11 33784735 33784735 single base substitution A C intron_variant COCA-CN 11 33785268 33785268 single base substitution C T intron_variant EOPC-DE 11 33799305 33799305 single base substitution A T upstream_gene_variant ESAD-UK 11 33757865 33757865 single base substitution A C downstream_gene_variant ESAD-UK 11 33760015 33760015 single base substitution C T downstream_gene_variant ESAD-UK 11 33761438 33761438 insertion of <=200bp - C downstream_gene_variant ESAD-UK 11 33762319 33762319 single base substitution A G downstream_gene_variant ESAD-UK 11 33762537 33762537 single base substitution G A 3_prime_UTR_variant ESAD-UK 11 33762537 33762537 single base substitution G A downstream_gene_variant ESAD-UK 11 33762537 33762537 single base substitution G A exon_variant ESAD-UK 11 33764252 33764252 single base substitution G A 3_prime_UTR_variant ESAD-UK 11 33764252 33764252 single base substitution G A downstream_gene_variant ESAD-UK 11 33764252 33764252 single base substitution G A intron_variant ESAD-UK 11 33764777 33764777 single base substitution T C 3_prime_UTR_variant ESAD-UK 11 33764777 33764777 single base substitution T C downstream_gene_variant ESAD-UK 11 33764777 33764777 single base substitution T C intron_variant ESAD-UK 11 33766842 33766842 single base substitution C T 3_prime_UTR_variant ESAD-UK 11 33766842 33766842 single base substitution C T downstream_gene_variant ESAD-UK 11 33766842 33766842 single base substitution C T intron_variant ESAD-UK 11 33768722 33768722 single base substitution C T downstream_gene_variant ESAD-UK 11 33768722 33768722 single base substitution C T exon_variant ESAD-UK 11 33768722 33768722 single base substitution C T missense_variant R285Q 854G>A ESAD-UK 11 33768722 33768722 single base substitution C T missense_variant R393Q 1178G>A ESAD-UK 11 33768722 33768722 single base substitution C T missense_variant R398Q 1193G>A ESAD-UK 11 33768722 33768722 single base substitution C T missense_variant R85Q 254G>A ESAD-UK 11 33770122 33770122 insertion of <=200bp - A intron_variant ESAD-UK 11 33770242 33770242 single base substitution T G intron_variant ESAD-UK 11 33774804 33774804 single base substitution C T 5_prime_UTR_variant ESAD-UK 11 33774804 33774804 single base substitution C T downstream_gene_variant ESAD-UK 11 33774804 33774804 single base substitution C T exon_variant ESAD-UK 11 33774804 33774804 single base substitution C T intron_variant ESAD-UK 11 33774804 33774804 single base substitution C T upstream_gene_variant ESAD-UK 11 33775506 33775506 single base substitution C T downstream_gene_variant ESAD-UK 11 33775506 33775506 single base substitution C T exon_variant ESAD-UK 11 33775506 33775506 single base substitution C T intron_variant ESAD-UK 11 33775506 33775506 single base substitution C T upstream_gene_variant ESAD-UK 11 33777349 33777349 single base substitution G A downstream_gene_variant ESAD-UK 11 33777349 33777349 single base substitution G A exon_variant ESAD-UK 11 33777349 33777349 single base substitution G A intron_variant ESAD-UK 11 33777349 33777349 single base substitution G A stop_gained R103* 307C>T ESAD-UK 11 33777349 33777349 single base substitution G A stop_gained R211* 631C>T ESAD-UK 11 33777349 33777349 single base substitution G A stop_gained R216* 646C>T ESAD-UK 11 33777349 33777349 single base substitution G A upstream_gene_variant ESAD-UK 11 33778390 33778390 single base substitution C G downstream_gene_variant ESAD-UK 11 33778390 33778390 single base substitution C G intron_variant ESAD-UK 11 33778390 33778390 single base substitution C G upstream_gene_variant ESAD-UK 11 33780166 33780166 single base substitution G C downstream_gene_variant ESAD-UK 11 33780166 33780166 single base substitution G C intron_variant ESAD-UK 11 33780780 33780780 single base substitution G A downstream_gene_variant ESAD-UK 11 33780780 33780780 single base substitution G A intron_variant ESAD-UK 11 33781423 33781423 single base substitution T G downstream_gene_variant ESAD-UK 11 33781423 33781423 single base substitution T G intron_variant ESAD-UK 11 33782657 33782657 single base substitution A G downstream_gene_variant ESAD-UK 11 33782657 33782657 single base substitution A G intron_variant ESAD-UK 11 33783981 33783981 single base substitution C A downstream_gene_variant ESAD-UK 11 33783981 33783981 single base substitution C A intron_variant ESAD-UK 11 33786290 33786290 single base substitution C T intron_variant ESAD-UK 11 33788841 33788841 single base substitution T G intron_variant ESAD-UK 11 33789136 33789136 single base substitution C T intron_variant ESAD-UK 11 33789996 33789996 single base substitution T C intron_variant ESAD-UK 11 33792328 33792328 single base substitution C T 5_prime_UTR_variant ESAD-UK 11 33792328 33792328 single base substitution C T exon_variant ESAD-UK 11 33792328 33792328 single base substitution C T synonymous_variant P46P 138G>A ESAD-UK 11 33792328 33792328 single base substitution C T synonymous_variant P51P 153G>A ESAD-UK 11 33797589 33797589 single base substitution A T upstream_gene_variant ESAD-UK 11 33798106 33798106 single base substitution C T upstream_gene_variant ESAD-UK 11 33799304 33799304 single base substitution T A upstream_gene_variant ESAD-UK 11 33799686 33799686 single base substitution G C upstream_gene_variant ESCA-CN 11 33790555 33790555 single base substitution T C 5_prime_UTR_variant ESCA-CN 11 33790555 33790555 single base substitution T C exon_variant ESCA-CN 11 33790555 33790555 single base substitution T C missense_variant E62G 185A>G ESCA-CN 11 33790555 33790555 single base substitution T C missense_variant E67G 200A>G KIRC-US 11 33763575 33763575 single base substitution T A 3_prime_UTR_variant KIRC-US 11 33763575 33763575 single base substitution T A downstream_gene_variant KIRC-US 11 33763575 33763575 single base substitution T A exon_variant KIRC-US 11 33763575 33763575 single base substitution T A missense_variant E119V 356A>T KIRC-US 11 33763575 33763575 single base substitution T A missense_variant E319V 956A>T KIRC-US 11 33763575 33763575 single base substitution T A missense_variant E432V 1295A>T KIRC-US 11 33790514 33790514 single base substitution C A 5_prime_UTR_variant KIRC-US 11 33790514 33790514 single base substitution C A exon_variant KIRC-US 11 33790514 33790514 single base substitution C A missense_variant D76Y 226G>T KIRC-US 11 33790514 33790514 single base substitution C A missense_variant D81Y 241G>T KIRP-US 11 33770331 33770331 single base substitution C T 3_prime_UTR_variant KIRP-US 11 33770331 33770331 single base substitution C T exon_variant KIRP-US 11 33770331 33770331 single base substitution C T missense_variant G234E 701G>A KIRP-US 11 33770331 33770331 single base substitution C T missense_variant G342E 1025G>A KIRP-US 11 33770331 33770331 single base substitution C T missense_variant G347E 1040G>A KIRP-US 11 33770331 33770331 single base substitution C T missense_variant G34E 101G>A KIRP-US 11 33770334 33770334 single base substitution G T 3_prime_UTR_variant KIRP-US 11 33770334 33770334 single base substitution G T exon_variant KIRP-US 11 33770334 33770334 single base substitution G T missense_variant P233H 698C>A KIRP-US 11 33770334 33770334 single base substitution G T missense_variant P33H 98C>A KIRP-US 11 33770334 33770334 single base substitution G T missense_variant P341H 1022C>A KIRP-US 11 33770334 33770334 single base substitution G T missense_variant P346H 1037C>A LAML-KR 11 33775982 33775982 single base substitution A G downstream_gene_variant LAML-KR 11 33775982 33775982 single base substitution A G exon_variant LAML-KR 11 33775982 33775982 single base substitution A G intron_variant LAML-KR 11 33775982 33775982 single base substitution A G upstream_gene_variant LICA-CN 11 33770319 33770319 single base substitution A G intron_variant LICA-CN 11 33770319 33770319 single base substitution A G splice_region_variant LICA-CN 11 33780122 33780122 single base substitution A G 3_prime_UTR_variant LICA-CN 11 33780122 33780122 single base substitution A G downstream_gene_variant LICA-CN 11 33780122 33780122 single base substitution A G exon_variant LICA-CN 11 33780122 33780122 single base substitution A G synonymous_variant D123D 369T>C LICA-CN 11 33780122 33780122 single base substitution A G synonymous_variant D128D 384T>C LICA-CN 11 33780122 33780122 single base substitution A G synonymous_variant D15D 45T>C LICA-FR 11 33780081 33780081 single base substitution T C 3_prime_UTR_variant LICA-FR 11 33780081 33780081 single base substitution T C downstream_gene_variant LICA-FR 11 33780081 33780081 single base substitution T C exon_variant LICA-FR 11 33780081 33780081 single base substitution T C missense_variant Y137C 410A>G LICA-FR 11 33780081 33780081 single base substitution T C missense_variant Y142C 425A>G LICA-FR 11 33780081 33780081 single base substitution T C missense_variant Y29C 86A>G LICA-FR 11 33790487 33790487 single base substitution T G 5_prime_UTR_variant LICA-FR 11 33790487 33790487 single base substitution T G exon_variant LICA-FR 11 33790487 33790487 single base substitution T G missense_variant I85L 253A>C LICA-FR 11 33790487 33790487 single base substitution T G missense_variant I90L 268A>C LIHC-US 11 33790501 33790501 single base substitution T C 5_prime_UTR_variant LIHC-US 11 33790501 33790501 single base substitution T C exon_variant LIHC-US 11 33790501 33790501 single base substitution T C missense_variant D80G 239A>G LIHC-US 11 33790501 33790501 single base substitution T C missense_variant D85G 254A>G LINC-JP 11 33774915 33774915 single base substitution G A 5_prime_UTR_variant LINC-JP 11 33774915 33774915 single base substitution G A downstream_gene_variant LINC-JP 11 33774915 33774915 single base substitution G A exon_variant LINC-JP 11 33774915 33774915 single base substitution G A intron_variant LINC-JP 11 33774915 33774915 single base substitution G A upstream_gene_variant LINC-JP 11 33777147 33777147 single base substitution C A downstream_gene_variant LINC-JP 11 33777147 33777147 single base substitution C A intron_variant LINC-JP 11 33777147 33777147 single base substitution C A upstream_gene_variant LINC-JP 11 33777306 33777306 single base substitution G A downstream_gene_variant LINC-JP 11 33777306 33777306 single base substitution G A intron_variant LINC-JP 11 33777306 33777306 single base substitution G A upstream_gene_variant LINC-JP 11 33778641 33778642 deletion of <=200bp AT - downstream_gene_variant LINC-JP 11 33778641 33778642 deletion of <=200bp AT - intron_variant LINC-JP 11 33778641 33778642 deletion of <=200bp AT - upstream_gene_variant LINC-JP 11 33795988 33795988 single base substitution T C exon_variant LINC-JP 11 33795988 33795988 single base substitution T C missense_variant D19G 56A>G LINC-JP 11 33795988 33795988 single base substitution T C upstream_gene_variant LIRI-JP 11 33758764 33758765 deletion of <=200bp AC - downstream_gene_variant LIRI-JP 11 33760759 33760759 single base substitution A T downstream_gene_variant LIRI-JP 11 33761739 33761739 single base substitution A C downstream_gene_variant LIRI-JP 11 33762137 33762137 insertion of <=200bp - CTGA downstream_gene_variant LIRI-JP 11 33764173 33764173 single base substitution T C 3_prime_UTR_variant LIRI-JP 11 33764173 33764173 single base substitution T C downstream_gene_variant LIRI-JP 11 33764173 33764173 single base substitution T C intron_variant LIRI-JP 11 33764193 33764193 single base substitution T A 3_prime_UTR_variant LIRI-JP 11 33764193 33764193 single base substitution T A downstream_gene_variant LIRI-JP 11 33764193 33764193 single base substitution T A intron_variant LIRI-JP 11 33764468 33764468 single base substitution T C 3_prime_UTR_variant LIRI-JP 11 33764468 33764468 single base substitution T C downstream_gene_variant LIRI-JP 11 33764468 33764468 single base substitution T C intron_variant LIRI-JP 11 33769159 33769159 single base substitution G A intron_variant LIRI-JP 11 33769863 33769863 single base substitution T C intron_variant LIRI-JP 11 33774034 33774034 single base substitution T C downstream_gene_variant LIRI-JP 11 33774034 33774034 single base substitution T C intron_variant LIRI-JP 11 33774034 33774034 single base substitution T C upstream_gene_variant LIRI-JP 11 33774231 33774231 single base substitution G A downstream_gene_variant LIRI-JP 11 33774231 33774231 single base substitution G A intron_variant LIRI-JP 11 33774231 33774231 single base substitution G A upstream_gene_variant LIRI-JP 11 33774328 33774328 deletion of <=200bp T - downstream_gene_variant LIRI-JP 11 33774328 33774328 deletion of <=200bp T - intron_variant LIRI-JP 11 33774328 33774328 deletion of <=200bp T - upstream_gene_variant LIRI-JP 11 33775222 33775222 single base substitution T C downstream_gene_variant LIRI-JP 11 33775222 33775222 single base substitution T C exon_variant LIRI-JP 11 33775222 33775222 single base substitution T C intron_variant LIRI-JP 11 33775222 33775222 single base substitution T C upstream_gene_variant LIRI-JP 11 33777126 33777126 single base substitution T C downstream_gene_variant LIRI-JP 11 33777126 33777126 single base substitution T C intron_variant LIRI-JP 11 33777126 33777126 single base substitution T C upstream_gene_variant LIRI-JP 11 33777252 33777252 single base substitution T C downstream_gene_variant LIRI-JP 11 33777252 33777252 single base substitution T C intron_variant LIRI-JP 11 33777252 33777252 single base substitution T C upstream_gene_variant LIRI-JP 11 33778213 33778213 single base substitution T A downstream_gene_variant LIRI-JP 11 33778213 33778213 single base substitution T A intron_variant LIRI-JP 11 33778213 33778213 single base substitution T A upstream_gene_variant LIRI-JP 11 33778338 33778338 single base substitution A G downstream_gene_variant LIRI-JP 11 33778338 33778338 single base substitution A G intron_variant LIRI-JP 11 33778338 33778338 single base substitution A G upstream_gene_variant LIRI-JP 11 33779696 33779696 single base substitution C T downstream_gene_variant LIRI-JP 11 33779696 33779696 single base substitution C T intron_variant LIRI-JP 11 33779696 33779696 single base substitution C T upstream_gene_variant LIRI-JP 11 33780310 33780310 single base substitution C T downstream_gene_variant LIRI-JP 11 33780310 33780310 single base substitution C T intron_variant LIRI-JP 11 33781804 33781804 single base substitution T C downstream_gene_variant LIRI-JP 11 33781804 33781804 single base substitution T C intron_variant LIRI-JP 11 33784376 33784376 single base substitution G A downstream_gene_variant LIRI-JP 11 33784376 33784376 single base substitution G A intron_variant LIRI-JP 11 33784975 33784975 single base substitution G T intron_variant LIRI-JP 11 33785353 33785353 single base substitution T C intron_variant LIRI-JP 11 33788532 33788532 deletion of <=200bp A - intron_variant LIRI-JP 11 33790480 33790480 single base substitution T C 5_prime_UTR_variant LIRI-JP 11 33790480 33790480 single base substitution T C exon_variant LIRI-JP 11 33790480 33790480 single base substitution T C missense_variant H87R 260A>G LIRI-JP 11 33790480 33790480 single base substitution T C missense_variant H92R 275A>G LIRI-JP 11 33792255 33792255 single base substitution T A intron_variant LIRI-JP 11 33792333 33792333 single base substitution C T 5_prime_UTR_variant LIRI-JP 11 33792333 33792333 single base substitution C T exon_variant LIRI-JP 11 33792333 33792333 single base substitution C T missense_variant D45N 133G>A LIRI-JP 11 33792333 33792333 single base substitution C T missense_variant D50N 148G>A LIRI-JP 11 33794793 33794793 single base substitution T A 5_prime_UTR_variant LIRI-JP 11 33794793 33794793 single base substitution T A intron_variant LIRI-JP 11 33794793 33794793 single base substitution T A upstream_gene_variant LIRI-JP 11 33796413 33796413 single base substitution A C upstream_gene_variant LIRI-JP 11 33800068 33800068 single base substitution T C upstream_gene_variant LIRI-JP 11 33800207 33800207 single base substitution A G upstream_gene_variant LIRI-JP 11 33800358 33800358 single base substitution G A upstream_gene_variant LUSC-KR 11 33758492 33758492 single base substitution A T downstream_gene_variant LUSC-KR 11 33759153 33759153 single base substitution C G downstream_gene_variant LUSC-KR 11 33763609 33763609 single base substitution C A 3_prime_UTR_variant LUSC-KR 11 33763609 33763609 single base substitution C A downstream_gene_variant LUSC-KR 11 33763609 33763609 single base substitution C A exon_variant LUSC-KR 11 33763609 33763609 single base substitution C A stop_gained E108* 322G>T LUSC-KR 11 33763609 33763609 single base substitution C A stop_gained E308* 922G>T LUSC-KR 11 33763609 33763609 single base substitution C A stop_gained E421* 1261G>T LUSC-KR 11 33775982 33775982 single base substitution A G downstream_gene_variant LUSC-KR 11 33775982 33775982 single base substitution A G exon_variant LUSC-KR 11 33775982 33775982 single base substitution A G intron_variant LUSC-KR 11 33775982 33775982 single base substitution A G upstream_gene_variant LUSC-KR 11 33779569 33779569 single base substitution C G downstream_gene_variant LUSC-KR 11 33779569 33779569 single base substitution C G intron_variant LUSC-KR 11 33779569 33779569 single base substitution C G upstream_gene_variant LUSC-KR 11 33784209 33784209 single base substitution C T downstream_gene_variant LUSC-KR 11 33784209 33784209 single base substitution C T intron_variant LUSC-KR 11 33785572 33785572 single base substitution C A intron_variant LUSC-KR 11 33786746 33786746 single base substitution C T intron_variant LUSC-KR 11 33790268 33790268 single base substitution G C intron_variant LUSC-KR 11 33791393 33791393 single base substitution A G intron_variant LUSC-KR 11 33795524 33795524 single base substitution C A 5_prime_UTR_variant LUSC-KR 11 33795524 33795524 single base substitution C A intron_variant LUSC-KR 11 33795524 33795524 single base substitution C A upstream_gene_variant LUSC-KR 11 33799777 33799777 single base substitution C T upstream_gene_variant LUSC-US 11 33763558 33763558 single base substitution C G 3_prime_UTR_variant LUSC-US 11 33763558 33763558 single base substitution C G downstream_gene_variant LUSC-US 11 33763558 33763558 single base substitution C G exon_variant LUSC-US 11 33763558 33763558 single base substitution C G missense_variant D125H 373G>C LUSC-US 11 33763558 33763558 single base substitution C G missense_variant D325H 973G>C LUSC-US 11 33763558 33763558 single base substitution C G missense_variant D438H 1312G>C MALY-DE 11 33760279 33760279 single base substitution A T downstream_gene_variant MALY-DE 11 33780326 33780326 single base substitution C T downstream_gene_variant MALY-DE 11 33780326 33780326 single base substitution C T intron_variant MALY-DE 11 33789674 33789674 single base substitution T C intron_variant MALY-DE 11 33791270 33791271 deletion of <=200bp GA - intron_variant MALY-DE 11 33794707 33794707 single base substitution T C 5_prime_UTR_variant MALY-DE 11 33794707 33794707 single base substitution T C intron_variant MALY-DE 11 33794707 33794707 single base substitution T C upstream_gene_variant MALY-DE 11 33799305 33799305 single base substitution A T upstream_gene_variant MELA-AU 11 33757650 33757651 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 11 33757740 33757740 single base substitution C A downstream_gene_variant MELA-AU 11 33757831 33757831 single base substitution G A downstream_gene_variant MELA-AU 11 33758015 33758015 single base substitution C T downstream_gene_variant MELA-AU 11 33761475 33761475 single base substitution C T downstream_gene_variant MELA-AU 11 33762308 33762308 single base substitution G A downstream_gene_variant MELA-AU 11 33762446 33762446 single base substitution T A downstream_gene_variant MELA-AU 11 33762897 33762897 single base substitution G A 3_prime_UTR_variant MELA-AU 11 33762897 33762897 single base substitution G A downstream_gene_variant MELA-AU 11 33762897 33762897 single base substitution G A exon_variant MELA-AU 11 33763205 33763205 single base substitution G A 3_prime_UTR_variant MELA-AU 11 33763205 33763205 single base substitution G A downstream_gene_variant MELA-AU 11 33763205 33763205 single base substitution G A exon_variant MELA-AU 11 33763234 33763234 single base substitution G A 3_prime_UTR_variant MELA-AU 11 33763234 33763234 single base substitution G A downstream_gene_variant MELA-AU 11 33763234 33763234 single base substitution G A exon_variant MELA-AU 11 33763372 33763372 single base substitution G A 3_prime_UTR_variant MELA-AU 11 33763372 33763372 single base substitution G A downstream_gene_variant MELA-AU 11 33763372 33763372 single base substitution G A exon_variant MELA-AU 11 33763661 33763661 single base substitution A C 3_prime_UTR_variant MELA-AU 11 33763661 33763661 single base substitution A C downstream_gene_variant MELA-AU 11 33763661 33763661 single base substitution A C intron_variant MELA-AU 11 33764068 33764068 single base substitution A C 3_prime_UTR_variant MELA-AU 11 33764068 33764068 single base substitution A C downstream_gene_variant MELA-AU 11 33764068 33764068 single base substitution A C intron_variant MELA-AU 11 33764089 33764090 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 11 33764089 33764090 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 11 33764089 33764090 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 33764526 33764526 single base substitution G A 3_prime_UTR_variant MELA-AU 11 33764526 33764526 single base substitution G A downstream_gene_variant MELA-AU 11 33764526 33764526 single base substitution G A intron_variant MELA-AU 11 33764530 33764530 single base substitution G A 3_prime_UTR_variant MELA-AU 11 33764530 33764530 single base substitution G A downstream_gene_variant MELA-AU 11 33764530 33764530 single base substitution G A intron_variant MELA-AU 11 33764682 33764682 single base substitution G A 3_prime_UTR_variant MELA-AU 11 33764682 33764682 single base substitution G A downstream_gene_variant MELA-AU 11 33764682 33764682 single base substitution G A intron_variant MELA-AU 11 33765019 33765019 single base substitution G A 3_prime_UTR_variant MELA-AU 11 33765019 33765019 single base substitution G A downstream_gene_variant MELA-AU 11 33765019 33765019 single base substitution G A intron_variant MELA-AU 11 33765378 33765378 single base substitution C T 3_prime_UTR_variant MELA-AU 11 33765378 33765378 single base substitution C T downstream_gene_variant MELA-AU 11 33765378 33765378 single base substitution C T intron_variant MELA-AU 11 33765486 33765486 single base substitution G A 3_prime_UTR_variant MELA-AU 11 33765486 33765486 single base substitution G A downstream_gene_variant MELA-AU 11 33765486 33765486 single base substitution G A intron_variant MELA-AU 11 33765562 33765562 single base substitution G A 3_prime_UTR_variant MELA-AU 11 33765562 33765562 single base substitution G A downstream_gene_variant MELA-AU 11 33765562 33765562 single base substitution G A intron_variant MELA-AU 11 33765836 33765836 single base substitution G A 3_prime_UTR_variant MELA-AU 11 33765836 33765836 single base substitution G A downstream_gene_variant MELA-AU 11 33765836 33765836 single base substitution G A intron_variant MELA-AU 11 33766154 33766154 single base substitution T C 3_prime_UTR_variant MELA-AU 11 33766154 33766154 single base substitution T C downstream_gene_variant MELA-AU 11 33766154 33766154 single base substitution T C intron_variant MELA-AU 11 33766312 33766312 single base substitution G A 3_prime_UTR_variant MELA-AU 11 33766312 33766312 single base substitution G A downstream_gene_variant MELA-AU 11 33766312 33766312 single base substitution G A intron_variant MELA-AU 11 33766646 33766646 single base substitution G A 3_prime_UTR_variant MELA-AU 11 33766646 33766646 single base substitution G A downstream_gene_variant MELA-AU 11 33766646 33766646 single base substitution G A intron_variant MELA-AU 11 33767232 33767232 single base substitution G A 3_prime_UTR_variant MELA-AU 11 33767232 33767232 single base substitution G A downstream_gene_variant MELA-AU 11 33767232 33767232 single base substitution G A intron_variant MELA-AU 11 33767653 33767653 single base substitution C T 3_prime_UTR_variant MELA-AU 11 33767653 33767653 single base substitution C T downstream_gene_variant MELA-AU 11 33767653 33767653 single base substitution C T intron_variant MELA-AU 11 33767728 33767728 single base substitution G A 3_prime_UTR_variant MELA-AU 11 33767728 33767728 single base substitution G A downstream_gene_variant MELA-AU 11 33767728 33767728 single base substitution G A intron_variant MELA-AU 11 33768347 33768347 single base substitution G A 3_prime_UTR_variant MELA-AU 11 33768347 33768347 single base substitution G A downstream_gene_variant MELA-AU 11 33768347 33768347 single base substitution G A intron_variant MELA-AU 11 33768569 33768569 single base substitution T G 3_prime_UTR_variant MELA-AU 11 33768569 33768569 single base substitution T G downstream_gene_variant MELA-AU 11 33768569 33768569 single base substitution T G intron_variant MELA-AU 11 33768858 33768858 single base substitution G A 3_prime_UTR_variant MELA-AU 11 33768858 33768858 single base substitution G A exon_variant MELA-AU 11 33768858 33768858 single base substitution G A missense_variant P240S 718C>T MELA-AU 11 33768858 33768858 single base substitution G A missense_variant P348S 1042C>T MELA-AU 11 33768858 33768858 single base substitution G A missense_variant P353S 1057C>T MELA-AU 11 33768858 33768858 single base substitution G A missense_variant P40S 118C>T MELA-AU 11 33768930 33768930 single base substitution G T intron_variant MELA-AU 11 33769340 33769340 single base substitution G A intron_variant MELA-AU 11 33769434 33769434 single base substitution A T intron_variant MELA-AU 11 33769898 33769898 single base substitution C A intron_variant MELA-AU 11 33770048 33770048 single base substitution G A intron_variant MELA-AU 11 33770124 33770124 single base substitution A G intron_variant MELA-AU 11 33770448 33770448 single base substitution G A intron_variant MELA-AU 11 33770448 33770448 single base substitution G A upstream_gene_variant MELA-AU 11 33770567 33770567 single base substitution C T intron_variant MELA-AU 11 33770567 33770567 single base substitution C T upstream_gene_variant MELA-AU 11 33772078 33772078 single base substitution T A splice_region_variant MELA-AU 11 33772078 33772078 single base substitution T A upstream_gene_variant MELA-AU 11 33772474 33772474 single base substitution A T intron_variant MELA-AU 11 33772474 33772474 single base substitution A T upstream_gene_variant MELA-AU 11 33772864 33772864 single base substitution G A downstream_gene_variant MELA-AU 11 33772864 33772864 single base substitution G A intron_variant MELA-AU 11 33772864 33772864 single base substitution G A upstream_gene_variant MELA-AU 11 33773873 33773873 single base substitution A T downstream_gene_variant MELA-AU 11 33773873 33773873 single base substitution A T intron_variant MELA-AU 11 33773873 33773873 single base substitution A T upstream_gene_variant MELA-AU 11 33774277 33774277 single base substitution A T downstream_gene_variant MELA-AU 11 33774277 33774277 single base substitution A T intron_variant MELA-AU 11 33774277 33774277 single base substitution A T upstream_gene_variant MELA-AU 11 33774862 33774862 single base substitution C T 5_prime_UTR_variant MELA-AU 11 33774862 33774862 single base substitution C T downstream_gene_variant MELA-AU 11 33774862 33774862 single base substitution C T exon_variant MELA-AU 11 33774862 33774862 single base substitution C T intron_variant MELA-AU 11 33774862 33774862 single base substitution C T upstream_gene_variant MELA-AU 11 33776098 33776098 single base substitution C T downstream_gene_variant MELA-AU 11 33776098 33776098 single base substitution C T intron_variant MELA-AU 11 33776098 33776098 single base substitution C T upstream_gene_variant MELA-AU 11 33776207 33776207 single base substitution A T downstream_gene_variant MELA-AU 11 33776207 33776207 single base substitution A T intron_variant MELA-AU 11 33776207 33776207 single base substitution A T upstream_gene_variant MELA-AU 11 33776310 33776310 single base substitution G A downstream_gene_variant MELA-AU 11 33776310 33776310 single base substitution G A intron_variant MELA-AU 11 33776310 33776310 single base substitution G A upstream_gene_variant MELA-AU 11 33776453 33776453 single base substitution C T downstream_gene_variant MELA-AU 11 33776453 33776453 single base substitution C T intron_variant MELA-AU 11 33776453 33776453 single base substitution C T upstream_gene_variant MELA-AU 11 33778337 33778337 single base substitution G A downstream_gene_variant MELA-AU 11 33778337 33778337 single base substitution G A intron_variant MELA-AU 11 33778337 33778337 single base substitution G A upstream_gene_variant MELA-AU 11 33778514 33778514 single base substitution G T downstream_gene_variant MELA-AU 11 33778514 33778514 single base substitution G T intron_variant MELA-AU 11 33778514 33778514 single base substitution G T upstream_gene_variant MELA-AU 11 33778801 33778801 single base substitution A G downstream_gene_variant MELA-AU 11 33778801 33778801 single base substitution A G intron_variant MELA-AU 11 33778801 33778801 single base substitution A G upstream_gene_variant MELA-AU 11 33779910 33779910 single base substitution G A downstream_gene_variant MELA-AU 11 33779910 33779910 single base substitution G A intron_variant MELA-AU 11 33779910 33779910 single base substitution G A upstream_gene_variant MELA-AU 11 33779919 33779920 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 11 33779919 33779920 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 33779919 33779920 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 11 33780346 33780346 single base substitution G A downstream_gene_variant MELA-AU 11 33780346 33780346 single base substitution G A intron_variant MELA-AU 11 33780834 33780834 single base substitution G A downstream_gene_variant MELA-AU 11 33780834 33780834 single base substitution G A intron_variant MELA-AU 11 33780907 33780907 single base substitution C T downstream_gene_variant MELA-AU 11 33780907 33780907 single base substitution C T intron_variant MELA-AU 11 33781264 33781264 single base substitution G A downstream_gene_variant MELA-AU 11 33781264 33781264 single base substitution G A intron_variant MELA-AU 11 33781356 33781356 single base substitution G A downstream_gene_variant MELA-AU 11 33781356 33781356 single base substitution G A intron_variant MELA-AU 11 33781444 33781444 single base substitution A T downstream_gene_variant MELA-AU 11 33781444 33781444 single base substitution A T intron_variant MELA-AU 11 33782827 33782827 single base substitution G A downstream_gene_variant MELA-AU 11 33782827 33782827 single base substitution G A intron_variant MELA-AU 11 33783105 33783105 single base substitution G A downstream_gene_variant MELA-AU 11 33783105 33783105 single base substitution G A intron_variant MELA-AU 11 33783119 33783119 single base substitution G A downstream_gene_variant MELA-AU 11 33783119 33783119 single base substitution G A intron_variant MELA-AU 11 33784195 33784195 single base substitution G A downstream_gene_variant MELA-AU 11 33784195 33784195 single base substitution G A intron_variant MELA-AU 11 33784196 33784196 single base substitution G A downstream_gene_variant MELA-AU 11 33784196 33784196 single base substitution G A intron_variant MELA-AU 11 33784465 33784465 single base substitution A G downstream_gene_variant MELA-AU 11 33784465 33784465 single base substitution A G intron_variant MELA-AU 11 33785403 33785403 single base substitution G A intron_variant MELA-AU 11 33786415 33786415 single base substitution G A intron_variant MELA-AU 11 33786650 33786650 single base substitution G A intron_variant MELA-AU 11 33786671 33786671 single base substitution G A intron_variant MELA-AU 11 33786672 33786672 single base substitution G A intron_variant MELA-AU 11 33787078 33787078 single base substitution G A intron_variant MELA-AU 11 33787154 33787154 single base substitution C T intron_variant MELA-AU 11 33787435 33787435 single base substitution G A intron_variant MELA-AU 11 33787440 33787440 single base substitution C T intron_variant MELA-AU 11 33788323 33788323 single base substitution C T intron_variant MELA-AU 11 33788506 33788506 single base substitution G A intron_variant MELA-AU 11 33789036 33789036 single base substitution G A intron_variant MELA-AU 11 33789585 33789585 single base substitution G A intron_variant MELA-AU 11 33789799 33789799 single base substitution T C intron_variant MELA-AU 11 33790428 33790428 single base substitution G A 5_prime_UTR_variant MELA-AU 11 33790428 33790428 single base substitution G A exon_variant MELA-AU 11 33790428 33790428 single base substitution G A synonymous_variant P104P 312C>T MELA-AU 11 33790428 33790428 single base substitution G A synonymous_variant P109P 327C>T MELA-AU 11 33790835 33790835 single base substitution A T intron_variant MELA-AU 11 33791194 33791194 single base substitution G A intron_variant MELA-AU 11 33791314 33791314 single base substitution G A intron_variant MELA-AU 11 33791554 33791554 single base substitution G A intron_variant MELA-AU 11 33792029 33792029 single base substitution G A intron_variant MELA-AU 11 33792254 33792254 single base substitution G A intron_variant MELA-AU 11 33793049 33793050 multiple base substitution (>=2bp and <=200bp) CC TT 5_prime_UTR_variant MELA-AU 11 33793049 33793050 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 33793804 33793804 single base substitution G A 5_prime_UTR_variant MELA-AU 11 33793804 33793804 single base substitution G A intron_variant MELA-AU 11 33793804 33793804 single base substitution G A upstream_gene_variant MELA-AU 11 33794206 33794206 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 11 33794206 33794206 single base substitution G A intron_variant MELA-AU 11 33794206 33794206 single base substitution G A upstream_gene_variant MELA-AU 11 33794376 33794376 single base substitution G A 5_prime_UTR_variant MELA-AU 11 33794376 33794376 single base substitution G A intron_variant MELA-AU 11 33794376 33794376 single base substitution G A upstream_gene_variant MELA-AU 11 33794487 33794488 multiple base substitution (>=2bp and <=200bp) GA AC 5_prime_UTR_variant MELA-AU 11 33794487 33794488 multiple base substitution (>=2bp and <=200bp) GA AC intron_variant MELA-AU 11 33794487 33794488 multiple base substitution (>=2bp and <=200bp) GA AC upstream_gene_variant MELA-AU 11 33797009 33797009 single base substitution G A upstream_gene_variant MELA-AU 11 33797208 33797208 single base substitution C T upstream_gene_variant MELA-AU 11 33797499 33797499 single base substitution C T upstream_gene_variant MELA-AU 11 33798132 33798132 single base substitution G A upstream_gene_variant MELA-AU 11 33798226 33798226 single base substitution C T upstream_gene_variant MELA-AU 11 33798622 33798622 single base substitution C T upstream_gene_variant MELA-AU 11 33798681 33798681 single base substitution C T upstream_gene_variant MELA-AU 11 33798695 33798695 single base substitution C T upstream_gene_variant MELA-AU 11 33798839 33798840 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 11 33798880 33798880 single base substitution G A upstream_gene_variant MELA-AU 11 33799035 33799035 single base substitution C T upstream_gene_variant MELA-AU 11 33799305 33799305 single base substitution A T upstream_gene_variant MELA-AU 11 33799477 33799477 single base substitution C T upstream_gene_variant MELA-AU 11 33799895 33799895 single base substitution G A upstream_gene_variant MELA-AU 11 33800074 33800074 single base substitution G A upstream_gene_variant MELA-AU 11 33800249 33800249 single base substitution C T upstream_gene_variant MELA-AU 11 33800383 33800384 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant OV-AU 11 33766073 33766073 single base substitution G A 3_prime_UTR_variant OV-AU 11 33766073 33766073 single base substitution G A downstream_gene_variant OV-AU 11 33766073 33766073 single base substitution G A intron_variant OV-AU 11 33766785 33766785 single base substitution C G 3_prime_UTR_variant OV-AU 11 33766785 33766785 single base substitution C G downstream_gene_variant OV-AU 11 33766785 33766785 single base substitution C G intron_variant OV-AU 11 33776522 33776522 single base substitution C A downstream_gene_variant OV-AU 11 33776522 33776522 single base substitution C A intron_variant OV-AU 11 33776522 33776522 single base substitution C A upstream_gene_variant OV-AU 11 33784422 33784422 single base substitution T C downstream_gene_variant OV-AU 11 33784422 33784422 single base substitution T C intron_variant OV-AU 11 33793449 33793449 single base substitution A G 5_prime_UTR_variant OV-AU 11 33793449 33793449 single base substitution A G exon_variant OV-AU 11 33793449 33793449 single base substitution A G intron_variant OV-AU 11 33794550 33794550 single base substitution A G 5_prime_UTR_variant OV-AU 11 33794550 33794550 single base substitution A G intron_variant OV-AU 11 33794550 33794550 single base substitution A G upstream_gene_variant OV-AU 11 33800819 33800819 single base substitution C G upstream_gene_variant PACA-AU 11 33758249 33758249 single base substitution G T downstream_gene_variant PACA-AU 11 33770155 33770155 single base substitution A T intron_variant PACA-AU 11 33772003 33772003 single base substitution C G intron_variant PACA-AU 11 33772003 33772003 single base substitution C G upstream_gene_variant PACA-AU 11 33780379 33780379 deletion of <=200bp G - downstream_gene_variant PACA-AU 11 33780379 33780379 deletion of <=200bp G - intron_variant PACA-AU 11 33780606 33780606 single base substitution A G downstream_gene_variant PACA-AU 11 33780606 33780606 single base substitution A G intron_variant PACA-AU 11 33794100 33794100 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant PACA-AU 11 33794100 33794100 single base substitution G A intron_variant PACA-AU 11 33794100 33794100 single base substitution G A upstream_gene_variant PACA-AU 11 33797983 33797983 single base substitution A T upstream_gene_variant PACA-CA 11 33758060 33758060 single base substitution G C downstream_gene_variant PACA-CA 11 33768185 33768185 single base substitution C T 3_prime_UTR_variant PACA-CA 11 33768185 33768185 single base substitution C T downstream_gene_variant PACA-CA 11 33768185 33768185 single base substitution C T intron_variant PACA-CA 11 33768185 33768185 single base substitution C T missense_variant S419N 1256G>A PACA-CA 11 33771068 33771068 single base substitution T C intron_variant PACA-CA 11 33771068 33771068 single base substitution T C upstream_gene_variant PACA-CA 11 33771081 33771081 single base substitution T A intron_variant PACA-CA 11 33771081 33771081 single base substitution T A upstream_gene_variant PACA-CA 11 33772538 33772538 single base substitution G A downstream_gene_variant PACA-CA 11 33772538 33772538 single base substitution G A intron_variant PACA-CA 11 33772538 33772538 single base substitution G A upstream_gene_variant PACA-CA 11 33774094 33774094 single base substitution A C downstream_gene_variant PACA-CA 11 33774094 33774094 single base substitution A C intron_variant PACA-CA 11 33774094 33774094 single base substitution A C upstream_gene_variant PACA-CA 11 33774415 33774415 deletion of <=200bp A - downstream_gene_variant PACA-CA 11 33774415 33774415 deletion of <=200bp A - intron_variant PACA-CA 11 33774415 33774415 deletion of <=200bp A - upstream_gene_variant PACA-CA 11 33775255 33775255 single base substitution C G downstream_gene_variant PACA-CA 11 33775255 33775255 single base substitution C G exon_variant PACA-CA 11 33775255 33775255 single base substitution C G intron_variant PACA-CA 11 33775255 33775255 single base substitution C G upstream_gene_variant PACA-CA 11 33779008 33779008 insertion of <=200bp - TAC downstream_gene_variant PACA-CA 11 33779008 33779008 insertion of <=200bp - TAC intron_variant PACA-CA 11 33779008 33779008 insertion of <=200bp - TAC upstream_gene_variant PACA-CA 11 33783338 33783338 single base substitution C G downstream_gene_variant PACA-CA 11 33783338 33783338 single base substitution C G intron_variant PACA-CA 11 33788841 33788841 single base substitution T G intron_variant PACA-CA 11 33796631 33796635 deletion of <=200bp CTTAA - upstream_gene_variant PACA-CA 11 33796786 33796786 deletion of <=200bp T - upstream_gene_variant PACA-CA 11 33797920 33797920 single base substitution A T upstream_gene_variant PACA-CA 11 33799304 33799304 single base substitution T A upstream_gene_variant PACA-CA 11 33799836 33799836 single base substitution G A upstream_gene_variant PAEN-AU 11 33766371 33766371 single base substitution T G 3_prime_UTR_variant PAEN-AU 11 33766371 33766371 single base substitution T G downstream_gene_variant PAEN-AU 11 33766371 33766371 single base substitution T G intron_variant PBCA-DE 11 33773770 33773770 single base substitution G A downstream_gene_variant PBCA-DE 11 33773770 33773770 single base substitution G A intron_variant PBCA-DE 11 33773770 33773770 single base substitution G A upstream_gene_variant PBCA-DE 11 33794550 33794550 single base substitution A G 5_prime_UTR_variant PBCA-DE 11 33794550 33794550 single base substitution A G intron_variant PBCA-DE 11 33794550 33794550 single base substitution A G upstream_gene_variant PBCA-DE 11 33797581 33797602 deletion of <=200bp ATTCAACAACTAGAAAGTTTAA - upstream_gene_variant PBCA-DE 11 33799671 33799671 single base substitution A G upstream_gene_variant PRAD-CA 11 33778796 33778796 single base substitution T G downstream_gene_variant PRAD-CA 11 33778796 33778796 single base substitution T G intron_variant PRAD-CA 11 33778796 33778796 single base substitution T G upstream_gene_variant PRAD-CA 11 33788546 33788546 single base substitution A G intron_variant PRAD-UK 11 33760112 33760112 single base substitution A T downstream_gene_variant PRAD-UK 11 33761571 33761571 single base substitution A G downstream_gene_variant PRAD-UK 11 33764334 33764334 insertion of <=200bp - A 3_prime_UTR_variant PRAD-UK 11 33764334 33764334 insertion of <=200bp - A downstream_gene_variant PRAD-UK 11 33764334 33764334 insertion of <=200bp - A intron_variant PRAD-UK 11 33794141 33794141 single base substitution A G 5_prime_UTR_variant PRAD-UK 11 33794141 33794141 single base substitution A G intron_variant PRAD-UK 11 33794141 33794141 single base substitution A G upstream_gene_variant PRAD-UK 11 33799304 33799304 single base substitution T A upstream_gene_variant READ-US 11 33780086 33780086 single base substitution G A 3_prime_UTR_variant READ-US 11 33780086 33780086 single base substitution G A downstream_gene_variant READ-US 11 33780086 33780086 single base substitution G A exon_variant READ-US 11 33780086 33780086 single base substitution G A synonymous_variant D135D 405C>T READ-US 11 33780086 33780086 single base substitution G A synonymous_variant D140D 420C>T READ-US 11 33780086 33780086 single base substitution G A synonymous_variant D27D 81C>T RECA-EU 11 33760699 33760699 single base substitution A G downstream_gene_variant RECA-EU 11 33765461 33765461 single base substitution A T 3_prime_UTR_variant RECA-EU 11 33765461 33765461 single base substitution A T downstream_gene_variant RECA-EU 11 33765461 33765461 single base substitution A T intron_variant RECA-EU 11 33766843 33766843 single base substitution C A 3_prime_UTR_variant RECA-EU 11 33766843 33766843 single base substitution C A downstream_gene_variant RECA-EU 11 33766843 33766843 single base substitution C A intron_variant RECA-EU 11 33775592 33775592 single base substitution G A downstream_gene_variant RECA-EU 11 33775592 33775592 single base substitution G A exon_variant RECA-EU 11 33775592 33775592 single base substitution G A intron_variant RECA-EU 11 33775592 33775592 single base substitution G A upstream_gene_variant RECA-EU 11 33779901 33779901 single base substitution G A downstream_gene_variant RECA-EU 11 33779901 33779901 single base substitution G A intron_variant RECA-EU 11 33779901 33779901 single base substitution G A upstream_gene_variant SKCA-BR 11 33758277 33758277 single base substitution T C downstream_gene_variant SKCA-BR 11 33758781 33758791 deletion of <=200bp GACACACACAC - downstream_gene_variant SKCA-BR 11 33758973 33758973 single base substitution T A downstream_gene_variant SKCA-BR 11 33760945 33760945 single base substitution G A downstream_gene_variant SKCA-BR 11 33762111 33762111 single base substitution G A downstream_gene_variant SKCA-BR 11 33768945 33768945 single base substitution G A intron_variant SKCA-BR 11 33770210 33770210 single base substitution G A intron_variant SKCA-BR 11 33770825 33770825 single base substitution G A intron_variant SKCA-BR 11 33770825 33770825 single base substitution G A upstream_gene_variant SKCA-BR 11 33774204 33774204 single base substitution T A downstream_gene_variant SKCA-BR 11 33774204 33774204 single base substitution T A intron_variant SKCA-BR 11 33774204 33774204 single base substitution T A upstream_gene_variant SKCA-BR 11 33774326 33774326 single base substitution A G downstream_gene_variant SKCA-BR 11 33774326 33774326 single base substitution A G intron_variant SKCA-BR 11 33774326 33774326 single base substitution A G upstream_gene_variant SKCA-BR 11 33776415 33776415 insertion of <=200bp - CT downstream_gene_variant SKCA-BR 11 33776415 33776415 insertion of <=200bp - CT intron_variant SKCA-BR 11 33776415 33776415 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 11 33778625 33778625 single base substitution G T downstream_gene_variant SKCA-BR 11 33778625 33778625 single base substitution G T intron_variant SKCA-BR 11 33778625 33778625 single base substitution G T upstream_gene_variant SKCA-BR 11 33779724 33779724 single base substitution G A downstream_gene_variant SKCA-BR 11 33779724 33779724 single base substitution G A intron_variant SKCA-BR 11 33779724 33779724 single base substitution G A upstream_gene_variant SKCA-BR 11 33781537 33781537 single base substitution A C downstream_gene_variant SKCA-BR 11 33781537 33781537 single base substitution A C intron_variant SKCA-BR 11 33782047 33782047 single base substitution G A downstream_gene_variant SKCA-BR 11 33782047 33782047 single base substitution G A intron_variant SKCA-BR 11 33783569 33783569 single base substitution G A downstream_gene_variant SKCA-BR 11 33783569 33783569 single base substitution G A intron_variant SKCA-BR 11 33785172 33785173 deletion of <=200bp CA - intron_variant SKCA-BR 11 33786415 33786415 single base substitution G A intron_variant SKCA-BR 11 33787780 33787780 single base substitution G C intron_variant SKCA-BR 11 33788547 33788547 single base substitution A G intron_variant SKCA-BR 11 33791173 33791173 single base substitution G A intron_variant SKCA-BR 11 33797099 33797099 single base substitution C T upstream_gene_variant SKCA-BR 11 33799305 33799305 single base substitution A T upstream_gene_variant SKCA-BR 11 33800089 33800089 single base substitution C T upstream_gene_variant SKCM-US 11 33777415 33777415 single base substitution G A downstream_gene_variant SKCM-US 11 33777415 33777415 single base substitution G A exon_variant SKCM-US 11 33777415 33777415 single base substitution G A intron_variant SKCM-US 11 33777415 33777415 single base substitution G A missense_variant L189F 565C>T SKCM-US 11 33777415 33777415 single base substitution G A missense_variant L194F 580C>T SKCM-US 11 33777415 33777415 single base substitution G A missense_variant L81F 241C>T SKCM-US 11 33777415 33777415 single base substitution G A upstream_gene_variant SKCM-US 11 33777442 33777442 single base substitution G A downstream_gene_variant SKCM-US 11 33777442 33777442 single base substitution G A exon_variant SKCM-US 11 33777442 33777442 single base substitution G A intron_variant SKCM-US 11 33777442 33777442 single base substitution G A stop_gained Q180* 538C>T SKCM-US 11 33777442 33777442 single base substitution G A stop_gained Q185* 553C>T SKCM-US 11 33777442 33777442 single base substitution G A stop_gained Q72* 214C>T SKCM-US 11 33777442 33777442 single base substitution G A upstream_gene_variant SKCM-US 11 33790420 33790420 single base substitution G A 5_prime_UTR_variant SKCM-US 11 33790420 33790420 single base substitution G A exon_variant SKCM-US 11 33790420 33790420 single base substitution G A missense_variant P107L 320C>T SKCM-US 11 33790420 33790420 single base substitution G A missense_variant P112L 335C>T SKCM-US 11 33790446 33790446 single base substitution G A 5_prime_UTR_variant SKCM-US 11 33790446 33790446 single base substitution G A exon_variant SKCM-US 11 33790446 33790446 single base substitution G A synonymous_variant L103L 309C>T SKCM-US 11 33790446 33790446 single base substitution G A synonymous_variant L98L 294C>T STAD-US 11 33772171 33772171 single base substitution C T 3_prime_UTR_variant STAD-US 11 33772171 33772171 single base substitution C T 5_prime_UTR_variant STAD-US 11 33772171 33772171 single base substitution C T exon_variant STAD-US 11 33772171 33772171 single base substitution C T synonymous_variant G169G 507G>A STAD-US 11 33772171 33772171 single base substitution C T synonymous_variant G277G 831G>A STAD-US 11 33772171 33772171 single base substitution C T synonymous_variant G282G 846G>A STAD-US 11 33772171 33772171 single base substitution C T upstream_gene_variant STAD-US 11 33772191 33772191 single base substitution C A 3_prime_UTR_variant STAD-US 11 33772191 33772191 single base substitution C A 5_prime_UTR_variant STAD-US 11 33772191 33772191 single base substitution C A exon_variant STAD-US 11 33772191 33772191 single base substitution C A stop_gained E163* 487G>T STAD-US 11 33772191 33772191 single base substitution C A stop_gained E271* 811G>T STAD-US 11 33772191 33772191 single base substitution C A stop_gained E276* 826G>T STAD-US 11 33772191 33772191 single base substitution C A upstream_gene_variant STAD-US 11 33773099 33773099 single base substitution C T 3_prime_UTR_variant STAD-US 11 33773099 33773099 single base substitution C T 5_prime_UTR_variant STAD-US 11 33773099 33773099 single base substitution C T downstream_gene_variant STAD-US 11 33773099 33773099 single base substitution C T exon_variant STAD-US 11 33773099 33773099 single base substitution C T missense_variant G147D 440G>A STAD-US 11 33773099 33773099 single base substitution C T missense_variant G255D 764G>A STAD-US 11 33773099 33773099 single base substitution C T missense_variant G260D 779G>A STAD-US 11 33773099 33773099 single base substitution C T upstream_gene_variant STAD-US 11 33780074 33780074 single base substitution A G 3_prime_UTR_variant STAD-US 11 33780074 33780074 single base substitution A G downstream_gene_variant STAD-US 11 33780074 33780074 single base substitution A G exon_variant STAD-US 11 33780074 33780074 single base substitution A G synonymous_variant C139C 417T>C STAD-US 11 33780074 33780074 single base substitution A G synonymous_variant C144C 432T>C STAD-US 11 33780074 33780074 single base substitution A G synonymous_variant C31C 93T>C STAD-US 11 33790478 33790478 single base substitution A G 5_prime_UTR_variant STAD-US 11 33790478 33790478 single base substitution A G exon_variant STAD-US 11 33790478 33790478 single base substitution A G missense_variant Y88H 262T>C STAD-US 11 33790478 33790478 single base substitution A G missense_variant Y93H 277T>C STAD-US 11 33792304 33792304 deletion of <=200bp T - 5_prime_UTR_variant STAD-US 11 33792304 33792304 deletion of <=200bp T - exon_variant STAD-US 11 33792304 33792304 deletion of <=200bp T - frameshift_variant K54 STAD-US 11 33792304 33792304 deletion of <=200bp T - frameshift_variant K59 THCA-SA 11 33777334 33777334 single base substitution C T downstream_gene_variant THCA-SA 11 33777334 33777334 single base substitution C T exon_variant THCA-SA 11 33777334 33777334 single base substitution C T intron_variant THCA-SA 11 33777334 33777334 single base substitution C T missense_variant V108I 322G>A THCA-SA 11 33777334 33777334 single base substitution C T missense_variant V216I 646G>A THCA-SA 11 33777334 33777334 single base substitution C T missense_variant V221I 661G>A THCA-SA 11 33777334 33777334 single base substitution C T upstream_gene_variant THCA-US 11 33777500 33777500 single base substitution C T 3_prime_UTR_variant THCA-US 11 33777500 33777500 single base substitution C T downstream_gene_variant THCA-US 11 33777500 33777500 single base substitution C T exon_variant THCA-US 11 33777500 33777500 single base substitution C T intron_variant THCA-US 11 33777500 33777500 single base substitution C T synonymous_variant L160L 480G>A THCA-US 11 33777500 33777500 single base substitution C T synonymous_variant L165L 495G>A THCA-US 11 33777500 33777500 single base substitution C T synonymous_variant L52L 156G>A THCA-US 11 33777500 33777500 single base substitution C T upstream_gene_variant UCEC-US 11 33768742 33768742 single base substitution G T downstream_gene_variant UCEC-US 11 33768742 33768742 single base substitution G T exon_variant UCEC-US 11 33768742 33768742 single base substitution G T synonymous_variant I278I 834C>A UCEC-US 11 33768742 33768742 single base substitution G T synonymous_variant I386I 1158C>A UCEC-US 11 33768742 33768742 single base substitution G T synonymous_variant I391I 1173C>A UCEC-US 11 33768742 33768742 single base substitution G T synonymous_variant I78I 234C>A UCEC-US 11 33770434 33770434 single base substitution C A 3_prime_UTR_variant UCEC-US 11 33770434 33770434 single base substitution C A 5_prime_UTR_variant UCEC-US 11 33770434 33770434 single base substitution C A exon_variant UCEC-US 11 33770434 33770434 single base substitution C A stop_gained E200* 598G>T UCEC-US 11 33770434 33770434 single base substitution C A stop_gained E308* 922G>T UCEC-US 11 33770434 33770434 single base substitution C A stop_gained E313* 937G>T UCEC-US 11 33770434 33770434 single base substitution C A upstream_gene_variant UCEC-US 11 33776033 33776033 single base substitution C T downstream_gene_variant UCEC-US 11 33776033 33776033 single base substitution C T exon_variant UCEC-US 11 33776033 33776033 single base substitution C T missense_variant R118Q 353G>A UCEC-US 11 33776033 33776033 single base substitution C T missense_variant R226Q 677G>A UCEC-US 11 33776033 33776033 single base substitution C T missense_variant R231Q 692G>A UCEC-US 11 33776033 33776033 single base substitution C T upstream_gene_variant UCEC-US 11 33777332 33777332 single base substitution A C downstream_gene_variant UCEC-US 11 33777332 33777332 single base substitution A C exon_variant UCEC-US 11 33777332 33777332 single base substitution A C intron_variant UCEC-US 11 33777332 33777332 single base substitution A C synonymous_variant V108V 324T>G UCEC-US 11 33777332 33777332 single base substitution A C synonymous_variant V216V 648T>G UCEC-US 11 33777332 33777332 single base substitution A C synonymous_variant V221V 663T>G UCEC-US 11 33777332 33777332 single base substitution A C upstream_gene_variant UCEC-US 11 33777361 33777361 single base substitution C A downstream_gene_variant UCEC-US 11 33777361 33777361 single base substitution C A exon_variant UCEC-US 11 33777361 33777361 single base substitution C A intron_variant UCEC-US 11 33777361 33777361 single base substitution C A missense_variant A207S 619G>T UCEC-US 11 33777361 33777361 single base substitution C A missense_variant A212S 634G>T UCEC-US 11 33777361 33777361 single base substitution C A missense_variant A99S 295G>T UCEC-US 11 33777361 33777361 single base substitution C A upstream_gene_variant UCEC-US 11 33777486 33777486 single base substitution C T downstream_gene_variant UCEC-US 11 33777486 33777486 single base substitution C T exon_variant UCEC-US 11 33777486 33777486 single base substitution C T intron_variant UCEC-US 11 33777486 33777486 single base substitution C T missense_variant R165H 494G>A UCEC-US 11 33777486 33777486 single base substitution C T missense_variant R170H 509G>A UCEC-US 11 33777486 33777486 single base substitution C T missense_variant R57H 170G>A UCEC-US 11 33777486 33777486 single base substitution C T upstream_gene_variant UCEC-US 11 33790506 33790506 single base substitution G A 5_prime_UTR_variant UCEC-US 11 33790506 33790506 single base substitution G A exon_variant UCEC-US 11 33790506 33790506 single base substitution G A synonymous_variant Y78Y 234C>T UCEC-US 11 33790506 33790506 single base substitution G A synonymous_variant Y83Y 249C>T UCEC-US 11 33792360 33792360 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 11 33792360 33792360 single base substitution G A exon_variant UCEC-US 11 33792360 33792360 single base substitution G A stop_gained R36* 106C>T UCEC-US 11 33792360 33792360 single base substitution G A stop_gained R41* 121C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand CRC-23T COSM5482506 c.543C>T p.A181A Substitution - coding silent 11:33755906-33755906 - TCGA-B5-A0JY-01 COSM926559 c.249C>T p.Y83Y Substitution - coding silent 11:33768960-33768960 - ZZUFHECRKL-G040T COSM5431031 c.200A>G p.E67G Substitution - Missense 11:33769009-33769009 - TCGA-DW-7838-01 COSM3986134 c.1037C>A p.P346H Substitution - Missense 11:33748788-33748788 - TCGA-FW-A3R5-06 COSM3869104 c.580C>T p.L194F Substitution - Missense 11:33755869-33755869 - TCGA-F5-6814-01 COSM2115297 c.420C>T p.D140D Substitution - coding silent 11:33758540-33758540 - TCGA-BR-4257-01 COSM4032484 c.846G>A p.G282G Substitution - coding silent 11:33750625-33750625 - TCGA-A2-A0YG-01 COSM428932 c.85G>A p.D29N Substitution - Missense 11:33774413-33774413 - sysucc-311T COSM5477557 c.932+5G>A p.? Unknown 11:33750534-33750534 - MD-143 COSM302210 c.1006G>A p.A336T Substitution - Missense 11:33748819-33748819 - CHC432T COSM4953956 c.425A>G p.Y142C Substitution - Missense 11:33758535-33758535 - 2492702 COSM5599541 c.21G>C p.E7D Substitution - Missense 11:33774477-33774477 - TCGA-BS-A0UV-01 COSM926554 c.1173C>A p.I391I Substitution - coding silent 11:33747196-33747196 - LIM1215 COSM4191151 c.154C>A p.L52M Substitution - Missense 11:33770781-33770781 - T3351 COSM926560 c.121C>T p.R41* Substitution - Nonsense 11:33770814-33770814 - TARGET-30-PASYMX COSM1284931 c.852T>G p.I284M Substitution - Missense 11:33750619-33750619 - TCGA-AP-A059-01 COSM926556 c.692G>A p.R231Q Substitution - Missense 11:33754487-33754487 - RKO COSM2115289 c.750C>A p.T250T Substitution - coding silent 11:33751582-33751582 - 587336 COSM1206823 c.986G>A p.R329H Substitution - Missense 11:33748839-33748839 - YUPAT COSM1703796 c.12G>A p.M4I Substitution - Missense 11:33774486-33774486 - 9227_T COSM5042066 c.1318G>A p.A440T Substitution - Missense 11:33742006-33742006 - TCGA-AP-A059-01 COSM290367 c.509G>A p.R170H Substitution - Missense 11:33755940-33755940 - YUROG COSM5372380 c.1281G>A p.E427E Substitution - coding silent 11:33742043-33742043 - HCC30T COSM1604497 c.56A>G p.D19G Substitution - Missense 11:33774442-33774442 - RW7213 COSM4191151 c.154C>A p.L52M Substitution - Missense 11:33770781-33770781 - CHC1085T COSM4788670 c.268A>C p.I90L Substitution - Missense 11:33768941-33768941 - TCGA-B9-A44B-01 COSM3986133 c.1040G>A p.G347E Substitution - Missense 11:33748785-33748785 - Au2 COSM5599541 c.21G>C p.E7D Substitution - Missense 11:33774477-33774477 - SC_9096 COSM4191148 c.1278G>A p.E426E Substitution - coding silent 11:33742046-33742046 - TCGA-D3-A3C8-06 COSM3446885 c.553C>T p.Q185* Substitution - Nonsense 11:33755896-33755896 - ESOCB11T COSM1171777 c.725G>C p.G242A Substitution - Missense 11:33751607-33751607 - HCC118T COSM5813726 c.384T>C p.D128D Substitution - coding silent 11:33758576-33758576 - T3118 COSM4683953 c.1405C>T p.R469C Substitution - Missense 11:33741919-33741919 - ESCC_5 COSM4191145 c.1290A>G p.E430E Substitution - coding silent 11:33742034-33742034 - OST201PT COSM1732330 c.1348G>A p.E450K Substitution - Missense 11:33741976-33741976 - TCGA-CG-5721-01 COSM4032487 c.432T>C p.C144C Substitution - coding silent 11:33758528-33758528 - RK181_C01 COSM3739031 c.275A>G p.H92R Substitution - Missense 11:33768934-33768934 - STC297 COSM5050782 c.118A>G p.S40G Substitution - Missense 11:33770817-33770817 - TCGA-DD-A39X-01 COSM4940805 c.254A>G p.D85G Substitution - Missense 11:33768955-33768955 - PD4601a COSM161014 c.860C>T p.S287L Substitution - Missense 11:33750611-33750611 - C008 COSM5522673 c.583C>T p.P195S Substitution - Missense 11:33755866-33755866 - ACINAR01 COSM1734296 c.529G>T p.V177F Substitution - Missense 11:33755920-33755920 - YURUS COSM1703794 c.450T>A p.N150K Substitution - Missense 11:33758510-33758510 - TCGA-DK-A3WW-01 COSM3791457 c.872C>T p.S291L Substitution - Missense 11:33750599-33750599 - TCGA-B5-A11G-01 COSM926560 c.121C>T p.R41* Substitution - Nonsense 11:33770814-33770814 - 1N57-VS-1T57 COSM4977316 c.1300G>A p.D434N Substitution - Missense 11:33742024-33742024 - B96-Tumor COSM1746217 c.740A>C p.D247A Substitution - Missense 11:33751592-33751592 - YUPAT COSM1703795 c.13G>A p.E5K Substitution - Missense 11:33774485-33774485 - In-6 COSM144812 c.883G>T p.E295* Substitution - Nonsense 11:33750588-33750588 - TCGA-B5-A0JY-01 COSM926557 c.663T>G p.V221V Substitution - coding silent 11:33755786-33755786 - TCGA-C5-A1BM-01 COSM4826439 c.1269G>T p.M423I Substitution - Missense 11:33742055-33742055 - 2492700 COSM5599541 c.21G>C p.E7D Substitution - Missense 11:33774477-33774477 - TCGA-CD-A486-01 COSM4032485 c.826G>T p.E276* Substitution - Nonsense 11:33750645-33750645 - HCC100T COSM5811128 c.1048+4T>C p.? Unknown 11:33748773-33748773 - C391 COSM2115293 c.532G>A p.D178N Substitution - Missense 11:33755917-33755917 - BZ10 COSM5758121 c.918C>T p.F306F Substitution - coding silent 11:33750553-33750553 - TCGA-BT-A3PH-01 COSM1297988 c.1362G>C p.R454R Substitution - coding silent 11:33741962-33741962 - HCC30 COSM1604497 c.56A>G p.D19G Substitution - Missense 11:33774442-33774442 - BZ10 COSM5758122 c.823C>A p.P275T Substitution - Missense 11:33750648-33750648 - 2211644 COSM4169196 c.1239+2T>A p.? Unknown 11:33747128-33747128 - TCGA-BS-A0UF-01 COSM926555 c.937G>T p.E313* Substitution - Nonsense 11:33748888-33748888 - CHC1085T COSM4788670 c.268A>C p.I90L Substitution - Missense 11:33768941-33768941 - TCGA-AG-A025-01 COSM290367 c.509G>A p.R170H Substitution - Missense 11:33755940-33755940 - S01861 COSM5670978 c.142A>T p.S48C Substitution - Missense 11:33770793-33770793 - T3024 COSM3791457 c.872C>T p.S291L Substitution - Missense 11:33750599-33750599 - Pa01C COSM84057 c.529G>A p.V177I Substitution - Missense 11:33755920-33755920 - TCGA-FS-A1ZK-06 COSM3446886 c.335C>T p.P112L Substitution - Missense 11:33768874-33768874 - 2492701 COSM5599541 c.21G>C p.E7D Substitution - Missense 11:33774477-33774477 - RK212_C01 COSM3739032 c.148G>A p.D50N Substitution - Missense 11:33770787-33770787 - CSCC-29-T COSM4461923 c.1226C>T p.S409F Substitution - Missense 11:33747143-33747143 - TCGA-DE-A4M8-01 COSM3368351 c.495G>A p.L165L Substitution - coding silent 11:33755954-33755954 - NPC33F COSM4994968 c.1360C>T p.R454W Substitution - Missense 11:33741964-33741964 - TCGA-34-5928-01 COSM687466 c.1312G>C p.D438H Substitution - Missense 11:33742012-33742012 - CHC432T COSM4953956 c.425A>G p.Y142C Substitution - Missense 11:33758535-33758535 - KM12 COSM1675935 c.1132G>A p.G378R Substitution - Missense 11:33747237-33747237 - TCGA-AP-A059-01 COSM926558 c.634G>T p.A212S Substitution - Missense 11:33755815-33755815 - 07-058 COSM3736039 c.661G>A p.V221I Substitution - Missense 11:33755788-33755788 - STC252 COSM5050781 c.474-2A>G p.? Unknown 11:33755977-33755977 - TCGA-CJ-5683-01 COSM466764 c.241G>T p.D81Y Substitution - Missense 11:33768968-33768968 - TCGA-CZ-4858-01 COSM3359166 c.1295A>T p.E432V Substitution - Missense 11:33742029-33742029 - TCGA-BR-4363-01 COSM4032486 c.779G>A p.G260D Substitution - Missense 11:33751553-33751553 - TCGA-AN-A0XW-01 COSM428931 c.251C>G p.S84C Substitution - Missense 11:33768958-33768958 - TCGA-BR-4368-01 COSM4032488 c.277T>C p.Y93H Substitution - Missense 11:33768932-33768932 - QC2-26-T2 COSM3736039 c.661G>A p.V221I Substitution - Missense 11:33755788-33755788 - 2492703 COSM5599541 c.21G>C p.E7D Substitution - Missense 11:33774477-33774477 - ESCC_117 COSM4191148 c.1278G>A p.E426E Substitution - coding silent 11:33742046-33742046 - TCGA-D8-A1JA-01 COSM3809136 c.55G>A p.D19N Substitution - Missense 11:33774443-33774443 - ESCC_5 COSM4191146 c.1287G>A p.E429E Substitution - coding silent 11:33742037-33742037 - LC_C22 COSM1188203 c.26C>T p.A9V Substitution - Missense 11:33774472-33774472 - CADO-ES1 COSM4574326 c.1287_1289delGGA p.E433delE Deletion - In frame 11:33742035-33742037 - LP6007594 COSM4409943 c.153G>A p.P51P Substitution - coding silent 11:33770782-33770782 - B96 COSM1746217 c.740A>C p.D247A Substitution - Missense 11:33751592-33751592 - TCGA-D9-A1JW-06 COSM3446887 c.309C>T p.L103L Substitution - coding silent 11:33768900-33768900 - Au10 COSM5598299 c.969C>T p.A323A Substitution - coding silent 11:33748856-33748856 - PT40 COSM5923913 c.1198C>A p.H400N Substitution - Missense 11:33747171-33747171 - GC1_T COSM147175 c.933-3T>C p.? Unknown 11:33748895-33748895 - LUAD_E00522 COSM352367 c.219G>T p.Q73H Substitution - Missense 11:33768990-33768990 - TCGA-AA-3672-01 COSM266530 c.1406G>A p.R469H Substitution - Missense 11:33741918-33741918 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.406781;Hs.406787 11p13 609089

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.C193G c.577T>G 11 33777418 CM A C Missense p.I284M c.852T>G 11 33772165 NB A G IntronicSNV . c.104+1390T>C 11 33794550 MB A G IntronicSNV . c.724+128T>C 11 33775873 CM A G Missense p.Y93H c.277T>C 11 33790478 STAD C A Missense p.D50Y c.148G>T 11 33792333 LUAD C A Missense p.D81Y c.241G>T 11 33790514 RCCC C A Missense p.L160F c.480G>T 11 33777515 LUAD C G Missense p.D438H c.1312G>C 11 33763558 LUSC C G Synonymous p.R454R c.1362G>C 11 33763508 BLCA C T Missense p.D29N c.85G>A 11 33795959 BRCA C T Missense p.G260D c.779G>A 11 33773099 STAD C T Missense p.R170H c.509G>A 11 33777486 COREAD C T Synonymous p.G282G c.846G>A 11 33772171 STAD G A IntronicSNV . c.724+81C>T 11 33775920 CM G A Missense p.P112L c.335C>T 11 33790420 CM G A Missense p.S287L c.860C>T 11 33772157 BRCA G A Missense p.V177I c.529G>A 11 33777466 PAAD G A Nonsense p.Q185* c.553C>T 11 33777442 CM G A Nonsense p.R41* c.121C>T 11 33792360 UCEC G A Synonymous p.L103L c.309C>T 11 33790446 CM G C Missense p.L296V c.886C>G 11 33772131 HNSC G C Missense p.S84C c.251C>G 11 33790504 BRCA G C Nonsense p.S439* c.1316C>G 11 33763554 BRCA T A Missense p.E432V c.1295A>T 11 33763575 RCCC T C IntronicSNV . c.1240-838A>G 11 33764468 HC T C Synonymous p.P353P c.1059A>G 11 33768856 HNSC T C Synonymous p.T371T c.1113A>G 11 33768802 CM