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 7 129664312 129664312 + Missense_Mutation SNP T T C TCGA-OR-A5JC-01A-11D-A29I-10 TCGA-OR-A5JC-10A-01D-A29L-10 g.chr7:129664312T>C c.811A>G c.(811-813)Aca>Gca p.T271A BLCA 7 129658505 129658505 + Nonstop_Mutation SNP C C G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 g.chr7:129658505C>G c.1508G>C c.(1507-1509)tGa>tCa p.*503S BLCA 7 129663417 129663417 + Silent SNP G G C TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 g.chr7:129663417G>C c.1167C>G c.(1165-1167)ggC>ggG p.G389G BLCA 7 129666041 129666041 + Missense_Mutation SNP G G C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 g.chr7:129666041G>C c.733C>G c.(733-735)Cac>Gac p.H245D BLCA 7 129668804 129668804 + Nonsense_Mutation SNP G G A TCGA-XF-AAMG-01A-11D-A42E-08 TCGA-XF-AAMG-10A-01D-A42H-08 g.chr7:129668804G>A c.559C>T c.(559-561)Caa>Taa p.Q187* BLCA 7 129680811 129680811 + Missense_Mutation SNP G G T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 g.chr7:129680811G>T c.389C>A c.(388-390)cCa>cAa p.P130Q BLCA 7 129680855 129680855 + Silent SNP G G C TCGA-FD-A62P-01A-32D-A30E-08 TCGA-FD-A62P-10A-01D-A30H-08 g.chr7:129680855G>C c.345C>G c.(343-345)ctC>ctG p.L115L BLCA 7 129680905 129680905 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 g.chr7:129680905G>C c.295C>G c.(295-297)Cca>Gca p.P99A BLCA 7 129688905 129688905 + Missense_Mutation SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 g.chr7:129688905C>G c.226G>C c.(226-228)Gaa>Caa p.E76Q BLCA 7 129691095 129691095 + Missense_Mutation SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 g.chr7:129691095C>T c.112G>A c.(112-114)Gag>Aag p.E38K BLCA 7 129691095 129691095 + Missense_Mutation SNP C C T TCGA-K4-A54R-01A-11D-A26M-08 TCGA-K4-A54R-10A-01D-A26K-08 g.chr7:129691095C>T c.112G>A c.(112-114)Gag>Aag p.E38K BLCA 7 129691140 129691140 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 g.chr7:129691140G>A c.67C>T c.(67-69)Cgc>Tgc p.R23C BRCA 7 129663533 129663533 + Nonsense_Mutation SNP G G A TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 g.chr7:129663533G>A c.1051C>T c.(1051-1053)Cga>Tga p.R351* BRCA 7 129664182 129664182 + Missense_Mutation SNP C C A TCGA-D8-A27N-01A-11D-A16D-09 TCGA-D8-A27N-10A-01D-A16D-09 g.chr7:129664182C>A c.941G>T c.(940-942)cGc>cTc p.R314L BRCA 7 129666140 129666140 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 g.chr7:129666140C>G c.634G>C c.(634-636)Gac>Cac p.D212H BRCA 7 129680797 129680797 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 g.chr7:129680797C>G c.403G>C c.(403-405)Gac>Cac p.D135H CESC 7 129688889 129688889 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr7:129688889C>G c.242G>C c.(241-243)aGa>aCa p.R81T COAD 7 129662198 129662198 + Silent SNP C C T TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr7:129662198C>T c.1401G>A c.(1399-1401)gcG>gcA p.A467A COAD 7 129662246 129662246 + Silent SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr7:129662246G>A c.1353C>T c.(1351-1353)agC>agT p.S451S COAD 7 129663502 129663502 + Missense_Mutation SNP A A G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr7:129663502A>G c.1082T>C c.(1081-1083)gTt>gCt p.V361A COAD 7 129664189 129664189 + Missense_Mutation SNP G G A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr7:129664189G>A c.934C>T c.(934-936)Cca>Tca p.P312S COAD 7 129664310 129664310 + Silent SNP T T C TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr7:129664310T>C c.813A>G c.(811-813)acA>acG p.T271T COAD 7 129666089 129666089 + Missense_Mutation SNP T T A TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr7:129666089T>A c.685A>T c.(685-687)Act>Tct p.T229S COAD 7 129668768 129668768 + Missense_Mutation SNP G G T TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr7:129668768G>T c.595C>A c.(595-597)Cta>Ata p.L199I COAD 7 129688904 129688904 + Missense_Mutation SNP T T A TCGA-AA-3860-01A-02W-0900-09 TCGA-AA-3860-10A-01W-0902-09 g.chr7:129688904T>A c.227A>T c.(226-228)gAa>gTa p.E76V COADREAD 7 129658533 129658533 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:129658533G>A c.1480C>T c.(1480-1482)Cgg>Tgg p.R494W COADREAD 7 129662198 129662198 + Silent SNP C C T TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr7:129662198C>T c.1401G>A c.(1399-1401)gcG>gcA p.A467A COADREAD 7 129662246 129662246 + Silent SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr7:129662246G>A c.1353C>T c.(1351-1353)agC>agT p.S451S COADREAD 7 129663442 129663442 + Missense_Mutation SNP C C G TCGA-AG-A036-01A-12W-A096-10 TCGA-AG-A036-11A-11W-A096-10 g.chr7:129663442C>G c.1142G>C c.(1141-1143)aGc>aCc p.S381T COADREAD 7 129663502 129663502 + Missense_Mutation SNP A A G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr7:129663502A>G c.1082T>C c.(1081-1083)gTt>gCt p.V361A COADREAD 7 129664189 129664189 + Missense_Mutation SNP G G A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr7:129664189G>A c.934C>T c.(934-936)Cca>Tca p.P312S COADREAD 7 129664310 129664310 + Silent SNP T T C TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr7:129664310T>C c.813A>G c.(811-813)acA>acG p.T271T COADREAD 7 129666089 129666089 + Missense_Mutation SNP T T A TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr7:129666089T>A c.685A>T c.(685-687)Act>Tct p.T229S COADREAD 7 129668768 129668768 + Missense_Mutation SNP G G T TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr7:129668768G>T c.595C>A c.(595-597)Cta>Ata p.L199I COADREAD 7 129668806 129668806 + Missense_Mutation SNP A A C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:129668806A>C c.557T>G c.(556-558)tTt>tGt p.F186C COADREAD 7 129688904 129688904 + Missense_Mutation SNP T T A TCGA-AA-3860-01A-02W-0900-09 TCGA-AA-3860-10A-01W-0902-09 g.chr7:129688904T>A c.227A>T c.(226-228)gAa>gTa p.E76V COADREAD 7 129691182 129691182 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:129691182C>A c.25G>T c.(25-27)Gcg>Tcg p.A9S DLBC 7 129663533 129663533 + Nonsense_Mutation SNP G G A TCGA-G8-6906-01A-11D-2210-10 TCGA-G8-6906-14A-01D-2210-10 g.chr7:129663533G>A c.1051C>T c.(1051-1053)Cga>Tga p.R351* DLBC 7 129664301 129664301 + Silent SNP T T C TCGA-G8-6909-01A-11D-2210-10 TCGA-G8-6909-14A-01D-2210-10 g.chr7:129664301T>C c.822A>G c.(820-822)caA>caG p.Q274Q ESCA 7 129680892 129680892 + Missense_Mutation SNP G G T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 g.chr7:129680892G>T c.308C>A c.(307-309)gCa>gAa p.A103E ESCA 7 129688937 129688937 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr7:129688937G>A c.194C>T c.(193-195)gCg>gTg p.A65V GBM 7 129662254 129662254 + Missense_Mutation SNP C C T TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 g.chr7:129662254C>T c.1345G>A c.(1345-1347)Gat>Aat p.D449N GBMLGG 7 129662254 129662254 + Missense_Mutation SNP C C T TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 g.chr7:129662254C>T c.1345G>A c.(1345-1347)Gat>Aat p.D449N HNSC 7 129663445 129663445 + Missense_Mutation SNP C C T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 g.chr7:129663445C>T c.1139G>A c.(1138-1140)cGa>cAa p.R380Q HNSC 7 129679338 129679338 + Silent SNP C C T TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 g.chr7:129679338C>T c.459G>A c.(457-459)gaG>gaA p.E153E HNSC 7 129691187 129691187 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr7:129691187C>T c.20G>A c.(19-21)gGa>gAa p.G7E HNSC 7 129691188 129691188 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr7:129691188C>T c.19G>A c.(19-21)Gga>Aga p.G7R KIPAN 7 129663471 129663471 + Frame_Shift_Del DEL G G - TCGA-B0-4823-01A-02D-1421-08 TCGA-B0-4823-11A-01D-1421-08 g.chr7:129663471delG c.1113delC c.(1111-1113)cccfs p.P371fs KIPAN 7 129666109 129666110 + Missense_Mutation DNP TC TC AA TCGA-B0-5096-01A-01D-1421-08 TCGA-B0-5096-11A-01D-1421-08 g.chr7:129666109_129666110TC>AA c.664_665GA>TT c.(664-666)GAa>TTa p.E222L KIRC 7 129663471 129663471 + Frame_Shift_Del DEL G G - TCGA-B0-4823-01A-02D-1421-08 TCGA-B0-4823-11A-01D-1421-08 g.chr7:129663471delG c.1113delC c.(1111-1113)cccfs p.P371fs KIRC 7 129666109 129666110 + Missense_Mutation DNP TC TC AA TCGA-B0-5096-01A-01D-1421-08 TCGA-B0-5096-11A-01D-1421-08 g.chr7:129666109_129666110TC>AA c.664_665GA>TT c.(664-666)GAa>TTa p.E222L LAML 7 129666032 129666032 + Missense_Mutation SNP C C T TCGA-AB-2832-03B-01W-0728-08 TCGA-AB-2832-11B-01W-0729-08 g.chr7:129666032C>T c.742G>A c.(742-744)Gcc>Acc p.A248T LUAD 7 129658511 129658511 + Missense_Mutation SNP G G A TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr7:129658511G>A c.1502C>T c.(1501-1503)tCa>tTa p.S501L LUAD 7 129663356 129663356 + Missense_Mutation SNP T T A TCGA-55-8510-01A-11D-2393-08 TCGA-55-8510-10A-01D-2393-08 g.chr7:129663356T>A c.1228A>T c.(1228-1230)Agt>Tgt p.S410C LUSC 7 129666074 129666074 + Missense_Mutation SNP T T A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 g.chr7:129666074T>A c.700A>T c.(700-702)Act>Tct p.T234S PAAD 7 129680929 129680929 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr7:129680929C>T c.271G>A c.(271-273)Gca>Aca p.A91T PRAD 7 129664155 129664155 + Missense_Mutation SNP C C A TCGA-CH-5767-01A-11D-1786-08 TCGA-CH-5767-11B-01D-1786-08 g.chr7:129664155C>A c.968G>T c.(967-969)cGg>cTg p.R323L READ 7 129658533 129658533 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:129658533G>A c.1480C>T c.(1480-1482)Cgg>Tgg p.R494W READ 7 129663442 129663442 + Missense_Mutation SNP C C G TCGA-AG-A036-01A-12W-A096-10 TCGA-AG-A036-11A-11W-A096-10 g.chr7:129663442C>G c.1142G>C c.(1141-1143)aGc>aCc p.S381T READ 7 129668806 129668806 + Missense_Mutation SNP A A C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:129668806A>C c.557T>G c.(556-558)tTt>tGt p.F186C READ 7 129691182 129691182 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:129691182C>A c.25G>T c.(25-27)Gcg>Tcg p.A9S SKCM 7 129658533 129658533 + Missense_Mutation SNP G G A TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr7:129658533G>A c.1480C>T c.(1480-1482)Cgg>Tgg p.R494W SKCM 7 129658543 129658543 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 g.chr7:129658543G>A c.1470C>T c.(1468-1470)ttC>ttT p.F490F SKCM 7 129662210 129662210 + Silent SNP G G A TCGA-D3-A3MU-06A-11D-A21A-08 TCGA-D3-A3MU-10A-01D-A21A-08 g.chr7:129662210G>A c.1389C>T c.(1387-1389)acC>acT p.T463T SKCM 7 129663406 129663406 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr7:129663406G>A c.1178C>T c.(1177-1179)cCa>cTa p.P393L SKCM 7 129663458 129663458 + Missense_Mutation SNP G G A TCGA-EE-A2GP-06A-11D-A197-08 TCGA-EE-A2GP-10A-01D-A199-08 g.chr7:129663458G>A c.1126C>T c.(1126-1128)Cgc>Tgc p.R376C SKCM 7 129664305 129664305 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr7:129664305G>A c.818C>T c.(817-819)tCg>tTg p.S273L SKCM 7 129668810 129668810 + Missense_Mutation SNP G G A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 g.chr7:129668810G>A c.553C>T c.(553-555)Cgt>Tgt p.R185C SKCM 7 129668810 129668810 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr7:129668810G>A c.553C>T c.(553-555)Cgt>Tgt p.R185C SKCM 7 129679332 129679332 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 g.chr7:129679332G>A c.465C>T c.(463-465)ttC>ttT p.F155F SKCM 7 129688901 129688901 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 g.chr7:129688901G>A c.230C>T c.(229-231)gCc>gTc p.A77V SKCM 7 129691083 129691083 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr7:129691083G>A c.124C>T c.(124-126)Ccg>Tcg p.P42S SKCM 7 129691111 129691111 + Silent SNP G G A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 g.chr7:129691111G>A c.96C>T c.(94-96)atC>atT p.I32I

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 7 129666004 129666004 single base substitution G A 3_prime_UTR_variant BLCA-CN 7 129666004 129666004 single base substitution G A downstream_gene_variant BLCA-CN 7 129666004 129666004 single base substitution G A exon_variant BLCA-CN 7 129666004 129666004 single base substitution G A missense_variant A236V 707C>T BLCA-CN 7 129666004 129666004 single base substitution G A missense_variant A257V 770C>T BLCA-US 7 129663417 129663417 single base substitution G C 3_prime_UTR_variant BLCA-US 7 129663417 129663417 single base substitution G C downstream_gene_variant BLCA-US 7 129663417 129663417 single base substitution G C exon_variant BLCA-US 7 129663417 129663417 single base substitution G C intron_variant BLCA-US 7 129663417 129663417 single base substitution G C synonymous_variant G346G 1038C>G BLCA-US 7 129663417 129663417 single base substitution G C synonymous_variant G368G 1104C>G BLCA-US 7 129663417 129663417 single base substitution G C synonymous_variant G389G 1167C>G BLCA-US 7 129680811 129680811 single base substitution G T 3_prime_UTR_variant BLCA-US 7 129680811 129680811 single base substitution G T intron_variant BLCA-US 7 129680811 129680811 single base substitution G T missense_variant P109Q 326C>A BLCA-US 7 129680811 129680811 single base substitution G T missense_variant P130Q 389C>A BLCA-US 7 129680811 129680811 single base substitution G T upstream_gene_variant BLCA-US 7 129680905 129680905 single base substitution G C 3_prime_UTR_variant BLCA-US 7 129680905 129680905 single base substitution G C intron_variant BLCA-US 7 129680905 129680905 single base substitution G C missense_variant P78A 232C>G BLCA-US 7 129680905 129680905 single base substitution G C missense_variant P99A 295C>G BLCA-US 7 129680905 129680905 single base substitution G C upstream_gene_variant BLCA-US 7 129688905 129688905 single base substitution C G 3_prime_UTR_variant BLCA-US 7 129688905 129688905 single base substitution C G exon_variant BLCA-US 7 129688905 129688905 single base substitution C G intron_variant BLCA-US 7 129688905 129688905 single base substitution C G missense_variant E55Q 163G>C BLCA-US 7 129688905 129688905 single base substitution C G missense_variant E76Q 226G>C BLCA-US 7 129691140 129691140 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant BLCA-US 7 129691140 129691140 single base substitution G A exon_variant BLCA-US 7 129691140 129691140 single base substitution G A missense_variant R23C 67C>T BRCA-EU 7 129653260 129653260 single base substitution C G downstream_gene_variant BRCA-EU 7 129653823 129653823 single base substitution G C downstream_gene_variant BRCA-EU 7 129654023 129654023 single base substitution C G downstream_gene_variant BRCA-EU 7 129655437 129655437 single base substitution C G downstream_gene_variant BRCA-EU 7 129656335 129656335 single base substitution G T downstream_gene_variant BRCA-EU 7 129656720 129656720 single base substitution C G downstream_gene_variant BRCA-EU 7 129658699 129658699 single base substitution C T downstream_gene_variant BRCA-EU 7 129658699 129658699 single base substitution C T intron_variant BRCA-EU 7 129660008 129660008 single base substitution C T downstream_gene_variant BRCA-EU 7 129660008 129660008 single base substitution C T intron_variant BRCA-EU 7 129660088 129660088 single base substitution G C downstream_gene_variant BRCA-EU 7 129660088 129660088 single base substitution G C intron_variant BRCA-EU 7 129660321 129660321 single base substitution C G downstream_gene_variant BRCA-EU 7 129660321 129660321 single base substitution C G intron_variant BRCA-EU 7 129664480 129664480 single base substitution C G downstream_gene_variant BRCA-EU 7 129664480 129664480 single base substitution C G intron_variant BRCA-EU 7 129664828 129664828 single base substitution C A downstream_gene_variant BRCA-EU 7 129664828 129664828 single base substitution C A intron_variant BRCA-EU 7 129665110 129665110 single base substitution G C downstream_gene_variant BRCA-EU 7 129665110 129665110 single base substitution G C intron_variant BRCA-EU 7 129666238 129666238 single base substitution C T intron_variant BRCA-EU 7 129668548 129668548 insertion of <=200bp - A intron_variant BRCA-EU 7 129668930 129668930 single base substitution G A intron_variant BRCA-EU 7 129671090 129671090 single base substitution C T intron_variant BRCA-EU 7 129673575 129673610 deletion of <=200bp AGCCACCACGCCTGGCCTGTCTGTAGCATTCTTGAA - intron_variant BRCA-EU 7 129673838 129673838 deletion of <=200bp T - intron_variant BRCA-EU 7 129675250 129675250 single base substitution A G downstream_gene_variant BRCA-EU 7 129675250 129675250 single base substitution A G intron_variant BRCA-EU 7 129675968 129675968 single base substitution T C downstream_gene_variant BRCA-EU 7 129675968 129675968 single base substitution T C intron_variant BRCA-EU 7 129676230 129676230 single base substitution C T downstream_gene_variant BRCA-EU 7 129676230 129676230 single base substitution C T intron_variant BRCA-EU 7 129676479 129676479 deletion of <=200bp A - downstream_gene_variant BRCA-EU 7 129676479 129676479 deletion of <=200bp A - intron_variant BRCA-EU 7 129678268 129678268 single base substitution C G downstream_gene_variant BRCA-EU 7 129678268 129678268 single base substitution C G intron_variant BRCA-EU 7 129678900 129678900 single base substitution C G downstream_gene_variant BRCA-EU 7 129678900 129678900 single base substitution C G intron_variant BRCA-EU 7 129679045 129679045 single base substitution G A downstream_gene_variant BRCA-EU 7 129679045 129679045 single base substitution G A intron_variant BRCA-EU 7 129679435 129679435 single base substitution C G exon_variant BRCA-EU 7 129679435 129679435 single base substitution C G intron_variant BRCA-EU 7 129679534 129679534 single base substitution C G intron_variant BRCA-EU 7 129679534 129679534 single base substitution C G upstream_gene_variant BRCA-EU 7 129679711 129679711 single base substitution C T intron_variant BRCA-EU 7 129679711 129679711 single base substitution C T upstream_gene_variant BRCA-EU 7 129679756 129679756 single base substitution C G intron_variant BRCA-EU 7 129679756 129679756 single base substitution C G upstream_gene_variant BRCA-EU 7 129679779 129679779 single base substitution C T intron_variant BRCA-EU 7 129679779 129679779 single base substitution C T upstream_gene_variant BRCA-EU 7 129680425 129680425 single base substitution C G intron_variant BRCA-EU 7 129680425 129680425 single base substitution C G upstream_gene_variant BRCA-EU 7 129680624 129680624 single base substitution T A intron_variant BRCA-EU 7 129680624 129680624 single base substitution T A upstream_gene_variant BRCA-EU 7 129680715 129680715 deletion of <=200bp T - intron_variant BRCA-EU 7 129680715 129680715 deletion of <=200bp T - upstream_gene_variant BRCA-EU 7 129682632 129682632 single base substitution C G intron_variant BRCA-EU 7 129682632 129682632 single base substitution C G upstream_gene_variant BRCA-EU 7 129682918 129682918 single base substitution C A intron_variant BRCA-EU 7 129682918 129682918 single base substitution C A upstream_gene_variant BRCA-EU 7 129683919 129683919 insertion of <=200bp - TG intron_variant BRCA-EU 7 129683919 129683919 insertion of <=200bp - TG upstream_gene_variant BRCA-EU 7 129685329 129685329 single base substitution C G intron_variant BRCA-EU 7 129685329 129685329 single base substitution C G splice_acceptor_variant BRCA-EU 7 129686571 129686571 single base substitution C T intron_variant BRCA-EU 7 129689963 129689963 single base substitution G C intron_variant BRCA-EU 7 129690804 129690804 single base substitution C T intron_variant BRCA-EU 7 129690933 129690933 single base substitution C G intron_variant BRCA-EU 7 129691799 129691799 deletion of <=200bp A - upstream_gene_variant BRCA-EU 7 129693290 129693290 single base substitution A G upstream_gene_variant BRCA-EU 7 129693682 129693682 single base substitution G A upstream_gene_variant BRCA-EU 7 129694060 129694060 single base substitution C G upstream_gene_variant BRCA-EU 7 129694501 129694501 deletion of <=200bp T - upstream_gene_variant BRCA-FR 7 129660008 129660008 single base substitution C T downstream_gene_variant BRCA-FR 7 129660008 129660008 single base substitution C T intron_variant BRCA-FR 7 129690933 129690933 single base substitution C G intron_variant BRCA-UK 7 129680624 129680624 single base substitution T A intron_variant BRCA-UK 7 129680624 129680624 single base substitution T A upstream_gene_variant BRCA-UK 7 129686571 129686571 single base substitution C T intron_variant BRCA-US 7 129663533 129663533 single base substitution G A 3_prime_UTR_variant BRCA-US 7 129663533 129663533 single base substitution G A downstream_gene_variant BRCA-US 7 129663533 129663533 single base substitution G A exon_variant BRCA-US 7 129663533 129663533 single base substitution G A intron_variant BRCA-US 7 129663533 129663533 single base substitution G A stop_gained R308* 922C>T BRCA-US 7 129663533 129663533 single base substitution G A stop_gained R330* 988C>T BRCA-US 7 129663533 129663533 single base substitution G A stop_gained R351* 1051C>T BRCA-US 7 129664182 129664182 single base substitution C A 3_prime_UTR_variant BRCA-US 7 129664182 129664182 single base substitution C A downstream_gene_variant BRCA-US 7 129664182 129664182 single base substitution C A exon_variant BRCA-US 7 129664182 129664182 single base substitution C A missense_variant R271L 812G>T BRCA-US 7 129664182 129664182 single base substitution C A missense_variant R293L 878G>T BRCA-US 7 129664182 129664182 single base substitution C A missense_variant R314L 941G>T BRCA-US 7 129666140 129666140 single base substitution C G 3_prime_UTR_variant BRCA-US 7 129666140 129666140 single base substitution C G exon_variant BRCA-US 7 129666140 129666140 single base substitution C G missense_variant D191H 571G>C BRCA-US 7 129666140 129666140 single base substitution C G missense_variant D212H 634G>C BRCA-US 7 129680797 129680797 single base substitution C G 3_prime_UTR_variant BRCA-US 7 129680797 129680797 single base substitution C G intron_variant BRCA-US 7 129680797 129680797 single base substitution C G missense_variant D114H 340G>C BRCA-US 7 129680797 129680797 single base substitution C G missense_variant D135H 403G>C BRCA-US 7 129680797 129680797 single base substitution C G upstream_gene_variant BTCA-JP 7 129666003 129666003 single base substitution C T 3_prime_UTR_variant BTCA-JP 7 129666003 129666003 single base substitution C T downstream_gene_variant BTCA-JP 7 129666003 129666003 single base substitution C T exon_variant BTCA-JP 7 129666003 129666003 single base substitution C T synonymous_variant A236A 708G>A BTCA-JP 7 129666003 129666003 single base substitution C T synonymous_variant A257A 771G>A BTCA-JP 7 129685272 129685272 single base substitution C T 3_prime_UTR_variant BTCA-JP 7 129685272 129685272 single base substitution C T intron_variant BTCA-JP 7 129691119 129691119 deletion of <=200bp G - 5_prime_UTR_variant BTCA-JP 7 129691119 129691119 deletion of <=200bp G - exon_variant BTCA-JP 7 129691119 129691119 deletion of <=200bp G - frameshift_variant Q30 CESC-US 7 129688889 129688889 single base substitution C G 3_prime_UTR_variant CESC-US 7 129688889 129688889 single base substitution C G exon_variant CESC-US 7 129688889 129688889 single base substitution C G intron_variant CESC-US 7 129688889 129688889 single base substitution C G missense_variant R60T 179G>C CESC-US 7 129688889 129688889 single base substitution C G missense_variant R81T 242G>C CLLE-ES 7 129657266 129657266 insertion of <=200bp - T downstream_gene_variant CLLE-ES 7 129659946 129659946 single base substitution C T downstream_gene_variant CLLE-ES 7 129659946 129659946 single base substitution C T intron_variant CLLE-ES 7 129681662 129681662 single base substitution C T intron_variant CLLE-ES 7 129681662 129681662 single base substitution C T upstream_gene_variant CLLE-ES 7 129688059 129688059 single base substitution G C intron_variant CLLE-ES 7 129688197 129688197 single base substitution G C intron_variant COAD-US 7 129663496 129663496 single base substitution C T 3_prime_UTR_variant COAD-US 7 129663496 129663496 single base substitution C T downstream_gene_variant COAD-US 7 129663496 129663496 single base substitution C T exon_variant COAD-US 7 129663496 129663496 single base substitution C T intron_variant COAD-US 7 129663496 129663496 single base substitution C T missense_variant R320H 959G>A COAD-US 7 129663496 129663496 single base substitution C T missense_variant R342H 1025G>A COAD-US 7 129663496 129663496 single base substitution C T missense_variant R363H 1088G>A COAD-US 7 129666089 129666089 single base substitution T A 3_prime_UTR_variant COAD-US 7 129666089 129666089 single base substitution T A exon_variant COAD-US 7 129666089 129666089 single base substitution T A missense_variant T208S 622A>T COAD-US 7 129666089 129666089 single base substitution T A missense_variant T229S 685A>T COAD-US 7 129668768 129668768 single base substitution G T 3_prime_UTR_variant COAD-US 7 129668768 129668768 single base substitution G T exon_variant COAD-US 7 129668768 129668768 single base substitution G T missense_variant L178I 532C>A COAD-US 7 129668768 129668768 single base substitution G T missense_variant L199I 595C>A COCA-CN 7 129657504 129657504 single base substitution A G downstream_gene_variant COCA-CN 7 129657511 129657511 single base substitution T C downstream_gene_variant COCA-CN 7 129658655 129658655 single base substitution A G downstream_gene_variant COCA-CN 7 129658655 129658655 single base substitution A G intron_variant COCA-CN 7 129662383 129662383 single base substitution G T downstream_gene_variant COCA-CN 7 129662383 129662383 single base substitution G T intron_variant COCA-CN 7 129664257 129664257 single base substitution G T 3_prime_UTR_variant COCA-CN 7 129664257 129664257 single base substitution G T downstream_gene_variant COCA-CN 7 129664257 129664257 single base substitution G T exon_variant COCA-CN 7 129664257 129664257 single base substitution G T intron_variant COCA-CN 7 129664257 129664257 single base substitution G T stop_gained S268* 803C>A COCA-CN 7 129664257 129664257 single base substitution G T stop_gained S289* 866C>A COCA-CN 7 129679252 129679252 single base substitution A C downstream_gene_variant COCA-CN 7 129679252 129679252 single base substitution A C intron_variant COCA-CN 7 129680668 129680668 single base substitution A T intron_variant COCA-CN 7 129680668 129680668 single base substitution A T upstream_gene_variant COCA-CN 7 129680720 129680720 single base substitution T C intron_variant COCA-CN 7 129680720 129680720 single base substitution T C upstream_gene_variant COCA-CN 7 129685236 129685236 single base substitution G A 3_prime_UTR_variant COCA-CN 7 129685236 129685236 single base substitution G A intron_variant COCA-CN 7 129691309 129691309 single base substitution C G upstream_gene_variant EOPC-DE 7 129695503 129695503 single base substitution A G upstream_gene_variant ESAD-UK 7 129653788 129653788 single base substitution C A downstream_gene_variant ESAD-UK 7 129654148 129654148 single base substitution T A downstream_gene_variant ESAD-UK 7 129656753 129656753 single base substitution C T downstream_gene_variant ESAD-UK 7 129657630 129657630 single base substitution T A downstream_gene_variant ESAD-UK 7 129659090 129659090 single base substitution C T downstream_gene_variant ESAD-UK 7 129659090 129659090 single base substitution C T intron_variant ESAD-UK 7 129660672 129660672 single base substitution C T downstream_gene_variant ESAD-UK 7 129660672 129660672 single base substitution C T intron_variant ESAD-UK 7 129661679 129661679 single base substitution G A downstream_gene_variant ESAD-UK 7 129661679 129661679 single base substitution G A intron_variant ESAD-UK 7 129663457 129663457 single base substitution C T 3_prime_UTR_variant ESAD-UK 7 129663457 129663457 single base substitution C T downstream_gene_variant ESAD-UK 7 129663457 129663457 single base substitution C T exon_variant ESAD-UK 7 129663457 129663457 single base substitution C T intron_variant ESAD-UK 7 129663457 129663457 single base substitution C T missense_variant R333H 998G>A ESAD-UK 7 129663457 129663457 single base substitution C T missense_variant R355H 1064G>A ESAD-UK 7 129663457 129663457 single base substitution C T missense_variant R376H 1127G>A ESAD-UK 7 129663883 129663883 single base substitution G T downstream_gene_variant ESAD-UK 7 129663883 129663883 single base substitution G T intron_variant ESAD-UK 7 129666670 129666670 single base substitution C T intron_variant ESAD-UK 7 129668395 129668395 insertion of <=200bp - TAC intron_variant ESAD-UK 7 129669252 129669252 single base substitution T C intron_variant ESAD-UK 7 129680610 129680610 single base substitution C A intron_variant ESAD-UK 7 129680610 129680610 single base substitution C A upstream_gene_variant ESAD-UK 7 129680715 129680715 deletion of <=200bp T - intron_variant ESAD-UK 7 129680715 129680715 deletion of <=200bp T - upstream_gene_variant ESAD-UK 7 129682513 129682513 insertion of <=200bp - T intron_variant ESAD-UK 7 129682513 129682513 insertion of <=200bp - T upstream_gene_variant ESAD-UK 7 129682802 129682802 single base substitution G A intron_variant ESAD-UK 7 129682802 129682802 single base substitution G A upstream_gene_variant ESAD-UK 7 129684158 129684158 single base substitution C T intron_variant ESAD-UK 7 129684158 129684158 single base substitution C T upstream_gene_variant ESAD-UK 7 129685241 129685241 single base substitution C T 3_prime_UTR_variant ESAD-UK 7 129685241 129685241 single base substitution C T intron_variant ESAD-UK 7 129687530 129687530 single base substitution C T intron_variant ESAD-UK 7 129687651 129687651 single base substitution T C intron_variant ESAD-UK 7 129688872 129688872 single base substitution T C exon_variant ESAD-UK 7 129688872 129688872 single base substitution T C intron_variant ESAD-UK 7 129688872 129688872 single base substitution T C splice_donor_variant ESAD-UK 7 129691640 129691640 single base substitution A C upstream_gene_variant ESAD-UK 7 129694445 129694445 single base substitution C T upstream_gene_variant ESCA-CN 7 129663487 129663487 single base substitution G T 3_prime_UTR_variant ESCA-CN 7 129663487 129663487 single base substitution G T downstream_gene_variant ESCA-CN 7 129663487 129663487 single base substitution G T exon_variant ESCA-CN 7 129663487 129663487 single base substitution G T intron_variant ESCA-CN 7 129663487 129663487 single base substitution G T missense_variant P323Q 968C>A ESCA-CN 7 129663487 129663487 single base substitution G T missense_variant P345Q 1034C>A ESCA-CN 7 129663487 129663487 single base substitution G T missense_variant P366Q 1097C>A ESCA-CN 7 129663532 129663532 single base substitution C T 3_prime_UTR_variant ESCA-CN 7 129663532 129663532 single base substitution C T downstream_gene_variant ESCA-CN 7 129663532 129663532 single base substitution C T exon_variant ESCA-CN 7 129663532 129663532 single base substitution C T intron_variant ESCA-CN 7 129663532 129663532 single base substitution C T missense_variant R308Q 923G>A ESCA-CN 7 129663532 129663532 single base substitution C T missense_variant R330Q 989G>A ESCA-CN 7 129663532 129663532 single base substitution C T missense_variant R351Q 1052G>A ESCA-CN 7 129664140 129664140 single base substitution C T 3_prime_UTR_variant ESCA-CN 7 129664140 129664140 single base substitution C T downstream_gene_variant ESCA-CN 7 129664140 129664140 single base substitution C T exon_variant ESCA-CN 7 129664140 129664140 single base substitution C T missense_variant R285Q 854G>A ESCA-CN 7 129664140 129664140 single base substitution C T missense_variant R307Q 920G>A ESCA-CN 7 129664140 129664140 single base substitution C T missense_variant R328Q 983G>A ESCA-CN 7 129691309 129691309 single base substitution C G upstream_gene_variant GBM-US 7 129662254 129662254 single base substitution C T 3_prime_UTR_variant GBM-US 7 129662254 129662254 single base substitution C T downstream_gene_variant GBM-US 7 129662254 129662254 single base substitution C T missense_variant D378N 1132G>A GBM-US 7 129662254 129662254 single base substitution C T missense_variant D406N 1216G>A GBM-US 7 129662254 129662254 single base substitution C T missense_variant D428N 1282G>A GBM-US 7 129662254 129662254 single base substitution C T missense_variant D449N 1345G>A KIRC-US 7 129663471 129663471 deletion of <=200bp G - 3_prime_UTR_variant KIRC-US 7 129663471 129663471 deletion of <=200bp G - downstream_gene_variant KIRC-US 7 129663471 129663471 deletion of <=200bp G - exon_variant KIRC-US 7 129663471 129663471 deletion of <=200bp G - frameshift_variant P328 KIRC-US 7 129663471 129663471 deletion of <=200bp G - frameshift_variant P350 KIRC-US 7 129663471 129663471 deletion of <=200bp G - frameshift_variant P371 KIRC-US 7 129663471 129663471 deletion of <=200bp G - intron_variant KIRC-US 7 129666109 129666109 single base substitution T A 3_prime_UTR_variant KIRC-US 7 129666109 129666109 single base substitution T A exon_variant KIRC-US 7 129666109 129666109 single base substitution T A missense_variant E201V 602A>T KIRC-US 7 129666109 129666109 single base substitution T A missense_variant E222V 665A>T KIRC-US 7 129666110 129666110 single base substitution C A 3_prime_UTR_variant KIRC-US 7 129666110 129666110 single base substitution C A exon_variant KIRC-US 7 129666110 129666110 single base substitution C A stop_gained E201* 601G>T KIRC-US 7 129666110 129666110 single base substitution C A stop_gained E222* 664G>T LAML-KR 7 129657147 129657147 single base substitution A G downstream_gene_variant LAML-KR 7 129672620 129672620 single base substitution G A intron_variant LICA-FR 7 129655301 129655301 single base substitution T G downstream_gene_variant LICA-FR 7 129655410 129655410 single base substitution C G downstream_gene_variant LICA-FR 7 129682143 129682143 deletion of <=200bp A - intron_variant LICA-FR 7 129682143 129682143 deletion of <=200bp A - upstream_gene_variant LICA-FR 7 129690447 129690447 single base substitution T C intron_variant LICA-FR 7 129695057 129695057 single base substitution T G upstream_gene_variant LIHC-US 7 129664107 129664107 single base substitution T C 3_prime_UTR_variant LIHC-US 7 129664107 129664107 single base substitution T C downstream_gene_variant LIHC-US 7 129664107 129664107 single base substitution T C exon_variant LIHC-US 7 129664107 129664107 single base substitution T C missense_variant E296G 887A>G LIHC-US 7 129664107 129664107 single base substitution T C missense_variant E318G 953A>G LIHC-US 7 129664107 129664107 single base substitution T C missense_variant E339G 1016A>G LINC-JP 7 129657016 129657016 single base substitution C A downstream_gene_variant LINC-JP 7 129661869 129661869 single base substitution G A downstream_gene_variant LINC-JP 7 129661869 129661869 single base substitution G A intron_variant LINC-JP 7 129680984 129680984 single base substitution A G intron_variant LINC-JP 7 129680984 129680984 single base substitution A G upstream_gene_variant LINC-JP 7 129681018 129681018 single base substitution A G intron_variant LINC-JP 7 129681018 129681018 single base substitution A G upstream_gene_variant LINC-JP 7 129681021 129681021 single base substitution C T intron_variant LINC-JP 7 129681021 129681021 single base substitution C T upstream_gene_variant LINC-JP 7 129684676 129684676 single base substitution G T intron_variant LINC-JP 7 129687558 129687558 single base substitution G A intron_variant LINC-JP 7 129691010 129691010 single base substitution A G intron_variant LINC-JP 7 129691191 129691191 single base substitution C T 5_prime_UTR_variant LINC-JP 7 129691191 129691191 single base substitution C T exon_variant LINC-JP 7 129691191 129691191 single base substitution C T missense_variant E6K 16G>A LIRI-JP 7 129653458 129653458 single base substitution C T downstream_gene_variant LIRI-JP 7 129653722 129653722 single base substitution T A downstream_gene_variant LIRI-JP 7 129653733 129653733 single base substitution T G downstream_gene_variant LIRI-JP 7 129656144 129656144 single base substitution T C downstream_gene_variant LIRI-JP 7 129656698 129656698 single base substitution C A downstream_gene_variant LIRI-JP 7 129657152 129657152 single base substitution G C downstream_gene_variant LIRI-JP 7 129657159 129657159 single base substitution C T downstream_gene_variant LIRI-JP 7 129657417 129657417 single base substitution C A downstream_gene_variant LIRI-JP 7 129658004 129658004 single base substitution T A downstream_gene_variant LIRI-JP 7 129660812 129660812 single base substitution A G downstream_gene_variant LIRI-JP 7 129660812 129660812 single base substitution A G intron_variant LIRI-JP 7 129662403 129662403 single base substitution A C downstream_gene_variant LIRI-JP 7 129662403 129662403 single base substitution A C intron_variant LIRI-JP 7 129663121 129663121 single base substitution A G downstream_gene_variant LIRI-JP 7 129663121 129663121 single base substitution A G intron_variant LIRI-JP 7 129663626 129663626 single base substitution T G downstream_gene_variant LIRI-JP 7 129663626 129663626 single base substitution T G intron_variant LIRI-JP 7 129664236 129664236 single base substitution G A 3_prime_UTR_variant LIRI-JP 7 129664236 129664236 single base substitution G A downstream_gene_variant LIRI-JP 7 129664236 129664236 single base substitution G A exon_variant LIRI-JP 7 129664236 129664236 single base substitution G A intron_variant LIRI-JP 7 129664236 129664236 single base substitution G A missense_variant A275V 824C>T LIRI-JP 7 129664236 129664236 single base substitution G A missense_variant A296V 887C>T LIRI-JP 7 129664648 129664648 single base substitution C T downstream_gene_variant LIRI-JP 7 129664648 129664648 single base substitution C T intron_variant LIRI-JP 7 129665220 129665220 single base substitution A C downstream_gene_variant LIRI-JP 7 129665220 129665220 single base substitution A C intron_variant LIRI-JP 7 129666275 129666275 single base substitution T G intron_variant LIRI-JP 7 129668738 129668738 single base substitution T C splice_region_variant LIRI-JP 7 129669267 129669267 single base substitution G A intron_variant LIRI-JP 7 129669282 129669282 single base substitution T C intron_variant LIRI-JP 7 129669445 129669445 single base substitution G A intron_variant LIRI-JP 7 129670440 129670440 single base substitution G A intron_variant LIRI-JP 7 129672181 129672181 single base substitution T A intron_variant LIRI-JP 7 129672750 129672750 single base substitution T C intron_variant LIRI-JP 7 129674849 129674849 single base substitution G C downstream_gene_variant LIRI-JP 7 129674849 129674849 single base substitution G C intron_variant LIRI-JP 7 129677190 129677190 single base substitution A T downstream_gene_variant LIRI-JP 7 129677190 129677190 single base substitution A T intron_variant LIRI-JP 7 129677512 129677512 single base substitution G A downstream_gene_variant LIRI-JP 7 129677512 129677512 single base substitution G A intron_variant LIRI-JP 7 129678245 129678245 single base substitution C T downstream_gene_variant LIRI-JP 7 129678245 129678245 single base substitution C T intron_variant LIRI-JP 7 129683559 129683559 single base substitution C T 3_prime_UTR_variant LIRI-JP 7 129683559 129683559 single base substitution C T intron_variant LIRI-JP 7 129683559 129683559 single base substitution C T upstream_gene_variant LIRI-JP 7 129689628 129689628 single base substitution G A intron_variant LIRI-JP 7 129689967 129689967 single base substitution G A intron_variant LIRI-JP 7 129691470 129691470 single base substitution A T upstream_gene_variant LIRI-JP 7 129691979 129691979 single base substitution T C upstream_gene_variant LIRI-JP 7 129693021 129693021 single base substitution A G upstream_gene_variant LIRI-JP 7 129695026 129695026 single base substitution C T upstream_gene_variant LUSC-KR 7 129657147 129657147 single base substitution A G downstream_gene_variant LUSC-KR 7 129658872 129658872 single base substitution C A downstream_gene_variant LUSC-KR 7 129658872 129658872 single base substitution C A intron_variant LUSC-KR 7 129672541 129672541 single base substitution G A intron_variant LUSC-KR 7 129672581 129672581 single base substitution C G intron_variant LUSC-KR 7 129672584 129672584 single base substitution T G intron_variant LUSC-KR 7 129674010 129674010 single base substitution A T intron_variant LUSC-KR 7 129675289 129675289 single base substitution G T downstream_gene_variant LUSC-KR 7 129675289 129675289 single base substitution G T intron_variant LUSC-KR 7 129681382 129681382 single base substitution C T intron_variant LUSC-KR 7 129681382 129681382 single base substitution C T upstream_gene_variant LUSC-KR 7 129687914 129687914 single base substitution G C intron_variant LUSC-KR 7 129688012 129688012 single base substitution C T intron_variant LUSC-US 7 129666074 129666074 single base substitution T A 3_prime_UTR_variant LUSC-US 7 129666074 129666074 single base substitution T A downstream_gene_variant LUSC-US 7 129666074 129666074 single base substitution T A exon_variant LUSC-US 7 129666074 129666074 single base substitution T A missense_variant T213S 637A>T LUSC-US 7 129666074 129666074 single base substitution T A missense_variant T234S 700A>T MALY-DE 7 129653884 129653884 single base substitution A C downstream_gene_variant MALY-DE 7 129666692 129666692 single base substitution C T intron_variant MALY-DE 7 129672463 129672464 deletion of <=200bp GA - intron_variant MALY-DE 7 129688705 129688705 single base substitution C T intron_variant MALY-DE 7 129689244 129689244 single base substitution T C intron_variant MELA-AU 7 129653382 129653382 single base substitution G T downstream_gene_variant MELA-AU 7 129653968 129653968 single base substitution G A downstream_gene_variant MELA-AU 7 129655184 129655184 single base substitution C T downstream_gene_variant MELA-AU 7 129655792 129655792 single base substitution G A downstream_gene_variant MELA-AU 7 129655877 129655877 single base substitution G A downstream_gene_variant MELA-AU 7 129657196 129657197 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 7 129657671 129657671 single base substitution G A downstream_gene_variant MELA-AU 7 129657819 129657819 single base substitution G A downstream_gene_variant MELA-AU 7 129657958 129657958 single base substitution C T downstream_gene_variant MELA-AU 7 129658533 129658533 single base substitution G A 3_prime_UTR_variant MELA-AU 7 129658533 129658533 single base substitution G A downstream_gene_variant MELA-AU 7 129658533 129658533 single base substitution G A missense_variant R423W 1267C>T MELA-AU 7 129658533 129658533 single base substitution G A missense_variant R451W 1351C>T MELA-AU 7 129658533 129658533 single base substitution G A missense_variant R473W 1417C>T MELA-AU 7 129658533 129658533 single base substitution G A missense_variant R494W 1480C>T MELA-AU 7 129658606 129658607 multiple base substitution (>=2bp and <=200bp) GT AA downstream_gene_variant MELA-AU 7 129658606 129658607 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 7 129658964 129658964 single base substitution G A downstream_gene_variant MELA-AU 7 129658964 129658964 single base substitution G A intron_variant MELA-AU 7 129659111 129659111 single base substitution G A downstream_gene_variant MELA-AU 7 129659111 129659111 single base substitution G A intron_variant MELA-AU 7 129659475 129659476 deletion of <=200bp AA - downstream_gene_variant MELA-AU 7 129659475 129659476 deletion of <=200bp AA - intron_variant MELA-AU 7 129659751 129659751 single base substitution G A downstream_gene_variant MELA-AU 7 129659751 129659751 single base substitution G A intron_variant MELA-AU 7 129660136 129660136 single base substitution G A downstream_gene_variant MELA-AU 7 129660136 129660136 single base substitution G A intron_variant MELA-AU 7 129660227 129660227 single base substitution G A downstream_gene_variant MELA-AU 7 129660227 129660227 single base substitution G A intron_variant MELA-AU 7 129660448 129660448 single base substitution A C downstream_gene_variant MELA-AU 7 129660448 129660448 single base substitution A C intron_variant MELA-AU 7 129660508 129660508 single base substitution G A downstream_gene_variant MELA-AU 7 129660508 129660508 single base substitution G A intron_variant MELA-AU 7 129660673 129660673 single base substitution G A downstream_gene_variant MELA-AU 7 129660673 129660673 single base substitution G A intron_variant MELA-AU 7 129660698 129660698 single base substitution G A downstream_gene_variant MELA-AU 7 129660698 129660698 single base substitution G A intron_variant MELA-AU 7 129660806 129660806 single base substitution C T downstream_gene_variant MELA-AU 7 129660806 129660806 single base substitution C T intron_variant MELA-AU 7 129661005 129661005 single base substitution C A downstream_gene_variant MELA-AU 7 129661005 129661005 single base substitution C A intron_variant MELA-AU 7 129661240 129661240 single base substitution G A downstream_gene_variant MELA-AU 7 129661240 129661240 single base substitution G A intron_variant MELA-AU 7 129661703 129661703 single base substitution G A downstream_gene_variant MELA-AU 7 129661703 129661703 single base substitution G A intron_variant MELA-AU 7 129661906 129661906 single base substitution G A downstream_gene_variant MELA-AU 7 129661906 129661906 single base substitution G A intron_variant MELA-AU 7 129661999 129661999 single base substitution G A downstream_gene_variant MELA-AU 7 129661999 129661999 single base substitution G A intron_variant MELA-AU 7 129662374 129662374 single base substitution G A downstream_gene_variant MELA-AU 7 129662374 129662374 single base substitution G A intron_variant MELA-AU 7 129662396 129662396 single base substitution T C downstream_gene_variant MELA-AU 7 129662396 129662396 single base substitution T C intron_variant MELA-AU 7 129662824 129662824 single base substitution G A downstream_gene_variant MELA-AU 7 129662824 129662824 single base substitution G A intron_variant MELA-AU 7 129663236 129663236 single base substitution G A downstream_gene_variant MELA-AU 7 129663236 129663236 single base substitution G A intron_variant MELA-AU 7 129663260 129663261 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 7 129663260 129663261 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 129663265 129663265 single base substitution G A downstream_gene_variant MELA-AU 7 129663265 129663265 single base substitution G A intron_variant MELA-AU 7 129663455 129663455 single base substitution G A 3_prime_UTR_variant MELA-AU 7 129663455 129663455 single base substitution G A downstream_gene_variant MELA-AU 7 129663455 129663455 single base substitution G A exon_variant MELA-AU 7 129663455 129663455 single base substitution G A intron_variant MELA-AU 7 129663455 129663455 single base substitution G A missense_variant P334S 1000C>T MELA-AU 7 129663455 129663455 single base substitution G A missense_variant P356S 1066C>T MELA-AU 7 129663455 129663455 single base substitution G A missense_variant P377S 1129C>T MELA-AU 7 129664826 129664826 single base substitution A G downstream_gene_variant MELA-AU 7 129664826 129664826 single base substitution A G intron_variant MELA-AU 7 129665610 129665610 single base substitution G A downstream_gene_variant MELA-AU 7 129665610 129665610 single base substitution G A intron_variant MELA-AU 7 129666229 129666229 single base substitution G A intron_variant MELA-AU 7 129666572 129666572 single base substitution G A intron_variant MELA-AU 7 129666793 129666793 single base substitution G A intron_variant MELA-AU 7 129666901 129666901 single base substitution A G intron_variant MELA-AU 7 129667249 129667249 single base substitution T C intron_variant MELA-AU 7 129667357 129667357 single base substitution A G intron_variant MELA-AU 7 129667534 129667534 single base substitution T A intron_variant MELA-AU 7 129667768 129667768 single base substitution G A intron_variant MELA-AU 7 129667929 129667929 single base substitution C A intron_variant MELA-AU 7 129668182 129668182 single base substitution G A intron_variant MELA-AU 7 129668810 129668810 single base substitution G A 3_prime_UTR_variant MELA-AU 7 129668810 129668810 single base substitution G A exon_variant MELA-AU 7 129668810 129668810 single base substitution G A missense_variant R164C 490C>T MELA-AU 7 129668810 129668810 single base substitution G A missense_variant R185C 553C>T MELA-AU 7 129669107 129669107 single base substitution G A intron_variant MELA-AU 7 129669523 129669523 single base substitution G A intron_variant MELA-AU 7 129669629 129669629 single base substitution G A intron_variant MELA-AU 7 129670391 129670391 single base substitution G A intron_variant MELA-AU 7 129670938 129670938 single base substitution G A intron_variant MELA-AU 7 129671282 129671282 single base substitution G A intron_variant MELA-AU 7 129671787 129671787 single base substitution C T intron_variant MELA-AU 7 129671798 129671798 single base substitution G A intron_variant MELA-AU 7 129671907 129671907 single base substitution T C intron_variant MELA-AU 7 129672065 129672065 single base substitution A G intron_variant MELA-AU 7 129672136 129672136 single base substitution G A intron_variant MELA-AU 7 129672319 129672319 single base substitution C T intron_variant MELA-AU 7 129673703 129673703 single base substitution G A intron_variant MELA-AU 7 129673964 129673964 single base substitution T C intron_variant MELA-AU 7 129674116 129674116 single base substitution G A downstream_gene_variant MELA-AU 7 129674116 129674116 single base substitution G A intron_variant MELA-AU 7 129674685 129674685 single base substitution G A downstream_gene_variant MELA-AU 7 129674685 129674685 single base substitution G A intron_variant MELA-AU 7 129674840 129674840 single base substitution G A downstream_gene_variant MELA-AU 7 129674840 129674840 single base substitution G A intron_variant MELA-AU 7 129675664 129675664 single base substitution G A downstream_gene_variant MELA-AU 7 129675664 129675664 single base substitution G A intron_variant MELA-AU 7 129675737 129675737 single base substitution G A downstream_gene_variant MELA-AU 7 129675737 129675737 single base substitution G A intron_variant MELA-AU 7 129675981 129675981 single base substitution G A downstream_gene_variant MELA-AU 7 129675981 129675981 single base substitution G A intron_variant MELA-AU 7 129676189 129676189 single base substitution A C downstream_gene_variant MELA-AU 7 129676189 129676189 single base substitution A C intron_variant MELA-AU 7 129676247 129676247 single base substitution G A downstream_gene_variant MELA-AU 7 129676247 129676247 single base substitution G A intron_variant MELA-AU 7 129676767 129676767 single base substitution G A 3_prime_UTR_variant MELA-AU 7 129676767 129676767 single base substitution G A downstream_gene_variant MELA-AU 7 129676767 129676767 single base substitution G A intron_variant MELA-AU 7 129676976 129676976 single base substitution G A downstream_gene_variant MELA-AU 7 129676976 129676976 single base substitution G A intron_variant MELA-AU 7 129678031 129678031 single base substitution G A downstream_gene_variant MELA-AU 7 129678031 129678031 single base substitution G A intron_variant MELA-AU 7 129678040 129678066 deletion of <=200bp GTCCTCTCATGGCCCTTATATAGACAG - downstream_gene_variant MELA-AU 7 129678040 129678066 deletion of <=200bp GTCCTCTCATGGCCCTTATATAGACAG - intron_variant MELA-AU 7 129678751 129678751 single base substitution C T downstream_gene_variant MELA-AU 7 129678751 129678751 single base substitution C T intron_variant MELA-AU 7 129680261 129680261 single base substitution G A intron_variant MELA-AU 7 129680261 129680261 single base substitution G A upstream_gene_variant MELA-AU 7 129680469 129680469 single base substitution A T intron_variant MELA-AU 7 129680469 129680469 single base substitution A T upstream_gene_variant MELA-AU 7 129680543 129680543 single base substitution G A intron_variant MELA-AU 7 129680543 129680543 single base substitution G A upstream_gene_variant MELA-AU 7 129680668 129680668 single base substitution A G intron_variant MELA-AU 7 129680668 129680668 single base substitution A G upstream_gene_variant MELA-AU 7 129680719 129680719 single base substitution T C intron_variant MELA-AU 7 129680719 129680719 single base substitution T C upstream_gene_variant MELA-AU 7 129680739 129680739 single base substitution G A intron_variant MELA-AU 7 129680739 129680739 single base substitution G A upstream_gene_variant MELA-AU 7 129680992 129680992 single base substitution G A intron_variant MELA-AU 7 129680992 129680992 single base substitution G A upstream_gene_variant MELA-AU 7 129680994 129680994 single base substitution A G intron_variant MELA-AU 7 129680994 129680994 single base substitution A G upstream_gene_variant MELA-AU 7 129681703 129681703 single base substitution G A intron_variant MELA-AU 7 129681703 129681703 single base substitution G A upstream_gene_variant MELA-AU 7 129682534 129682534 single base substitution G A intron_variant MELA-AU 7 129682534 129682534 single base substitution G A upstream_gene_variant MELA-AU 7 129682760 129682760 single base substitution C T intron_variant MELA-AU 7 129682760 129682760 single base substitution C T upstream_gene_variant MELA-AU 7 129683201 129683201 single base substitution A C intron_variant MELA-AU 7 129683201 129683201 single base substitution A C upstream_gene_variant MELA-AU 7 129683395 129683395 single base substitution G A intron_variant MELA-AU 7 129683395 129683395 single base substitution G A upstream_gene_variant MELA-AU 7 129683704 129683704 single base substitution G A exon_variant MELA-AU 7 129683704 129683704 single base substitution G A intron_variant MELA-AU 7 129683704 129683704 single base substitution G A upstream_gene_variant MELA-AU 7 129684198 129684198 single base substitution G A intron_variant MELA-AU 7 129684198 129684198 single base substitution G A upstream_gene_variant MELA-AU 7 129684235 129684235 single base substitution G A intron_variant MELA-AU 7 129684235 129684235 single base substitution G A upstream_gene_variant MELA-AU 7 129684253 129684253 single base substitution G A intron_variant MELA-AU 7 129684253 129684253 single base substitution G A upstream_gene_variant MELA-AU 7 129684362 129684362 single base substitution G A intron_variant MELA-AU 7 129684362 129684362 single base substitution G A upstream_gene_variant MELA-AU 7 129684539 129684539 single base substitution G A intron_variant MELA-AU 7 129684615 129684615 single base substitution G A intron_variant MELA-AU 7 129685351 129685351 single base substitution C T intron_variant MELA-AU 7 129685356 129685356 single base substitution G A intron_variant MELA-AU 7 129685724 129685724 single base substitution C T intron_variant MELA-AU 7 129686469 129686469 single base substitution G A intron_variant MELA-AU 7 129686653 129686653 single base substitution G A intron_variant MELA-AU 7 129686764 129686764 single base substitution G A intron_variant MELA-AU 7 129687128 129687128 single base substitution G A intron_variant MELA-AU 7 129687316 129687316 single base substitution G A intron_variant MELA-AU 7 129687394 129687394 single base substitution C T intron_variant MELA-AU 7 129687520 129687520 single base substitution G A intron_variant MELA-AU 7 129687542 129687542 single base substitution G A intron_variant MELA-AU 7 129689087 129689087 single base substitution G A intron_variant MELA-AU 7 129689912 129689912 single base substitution G A intron_variant MELA-AU 7 129689938 129689938 single base substitution G A intron_variant MELA-AU 7 129690155 129690155 single base substitution G A intron_variant MELA-AU 7 129691053 129691053 single base substitution G A intron_variant MELA-AU 7 129691706 129691706 single base substitution G A upstream_gene_variant MELA-AU 7 129692243 129692243 single base substitution G A upstream_gene_variant MELA-AU 7 129692350 129692350 single base substitution A G upstream_gene_variant MELA-AU 7 129692615 129692615 single base substitution G A upstream_gene_variant MELA-AU 7 129693000 129693000 single base substitution G A upstream_gene_variant MELA-AU 7 129693609 129693609 single base substitution G A upstream_gene_variant MELA-AU 7 129693782 129693782 single base substitution G A upstream_gene_variant MELA-AU 7 129694374 129694374 single base substitution G A upstream_gene_variant MELA-AU 7 129694395 129694395 single base substitution G A upstream_gene_variant MELA-AU 7 129694486 129694486 single base substitution G A upstream_gene_variant MELA-AU 7 129694487 129694487 single base substitution G A upstream_gene_variant MELA-AU 7 129694509 129694509 single base substitution G A upstream_gene_variant MELA-AU 7 129694553 129694553 single base substitution C T upstream_gene_variant MELA-AU 7 129694747 129694747 single base substitution G A upstream_gene_variant MELA-AU 7 129695122 129695122 single base substitution T C upstream_gene_variant MELA-AU 7 129695146 129695146 single base substitution G A upstream_gene_variant MELA-AU 7 129695406 129695406 single base substitution G A upstream_gene_variant MELA-AU 7 129695758 129695758 single base substitution G A upstream_gene_variant MELA-AU 7 129695966 129695966 single base substitution C T upstream_gene_variant MELA-AU 7 129695969 129695969 single base substitution C T upstream_gene_variant MELA-AU 7 129695975 129695976 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant ORCA-IN 7 129660424 129660424 single base substitution G A downstream_gene_variant ORCA-IN 7 129660424 129660424 single base substitution G A intron_variant ORCA-IN 7 129680990 129680990 single base substitution G A intron_variant ORCA-IN 7 129680990 129680990 single base substitution G A upstream_gene_variant ORCA-IN 7 129691234 129691234 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant ORCA-IN 7 129691234 129691234 single base substitution G C upstream_gene_variant OV-AU 7 129656009 129656009 single base substitution C A downstream_gene_variant OV-AU 7 129659184 129659184 single base substitution C T downstream_gene_variant OV-AU 7 129659184 129659184 single base substitution C T intron_variant OV-AU 7 129661547 129661547 single base substitution C T downstream_gene_variant OV-AU 7 129661547 129661547 single base substitution C T intron_variant OV-AU 7 129666351 129666351 single base substitution C G intron_variant OV-AU 7 129674054 129674054 single base substitution T A intron_variant OV-AU 7 129691233 129691233 single base substitution C G 5_prime_UTR_variant OV-AU 7 129691233 129691233 single base substitution C G upstream_gene_variant PACA-AU 7 129666164 129666164 single base substitution C T intron_variant PACA-AU 7 129666982 129666982 single base substitution T C intron_variant PACA-AU 7 129669590 129669590 deletion of <=200bp A - intron_variant PACA-AU 7 129680491 129680491 single base substitution A C intron_variant PACA-AU 7 129680491 129680491 single base substitution A C upstream_gene_variant PACA-AU 7 129686572 129686572 single base substitution G A intron_variant PACA-AU 7 129689131 129689131 deletion of <=200bp A - intron_variant PACA-AU 7 129691746 129691746 single base substitution C T upstream_gene_variant PACA-AU 7 129691954 129691954 single base substitution G C upstream_gene_variant PACA-CA 7 129653536 129653536 single base substitution G A downstream_gene_variant PACA-CA 7 129653899 129653899 single base substitution G A downstream_gene_variant PACA-CA 7 129654425 129654425 single base substitution C A downstream_gene_variant PACA-CA 7 129654576 129654576 single base substitution C T downstream_gene_variant PACA-CA 7 129658867 129658867 single base substitution T C downstream_gene_variant PACA-CA 7 129658867 129658867 single base substitution T C intron_variant PACA-CA 7 129661548 129661548 single base substitution G A downstream_gene_variant PACA-CA 7 129661548 129661548 single base substitution G A intron_variant PACA-CA 7 129663510 129663510 single base substitution G T 3_prime_UTR_variant PACA-CA 7 129663510 129663510 single base substitution G T downstream_gene_variant PACA-CA 7 129663510 129663510 single base substitution G T exon_variant PACA-CA 7 129663510 129663510 single base substitution G T intron_variant PACA-CA 7 129663510 129663510 single base substitution G T synonymous_variant S315S 945C>A PACA-CA 7 129663510 129663510 single base substitution G T synonymous_variant S337S 1011C>A PACA-CA 7 129663510 129663510 single base substitution G T synonymous_variant S358S 1074C>A PACA-CA 7 129664178 129664178 single base substitution T C 3_prime_UTR_variant PACA-CA 7 129664178 129664178 single base substitution T C downstream_gene_variant PACA-CA 7 129664178 129664178 single base substitution T C exon_variant PACA-CA 7 129664178 129664178 single base substitution T C synonymous_variant L272L 816A>G PACA-CA 7 129664178 129664178 single base substitution T C synonymous_variant L294L 882A>G PACA-CA 7 129664178 129664178 single base substitution T C synonymous_variant L315L 945A>G PACA-CA 7 129669037 129669037 single base substitution C T intron_variant PACA-CA 7 129670395 129670395 single base substitution A T intron_variant PACA-CA 7 129670568 129670568 single base substitution C T intron_variant PACA-CA 7 129671440 129671440 single base substitution C G intron_variant PACA-CA 7 129675425 129675425 single base substitution A G downstream_gene_variant PACA-CA 7 129675425 129675425 single base substitution A G intron_variant PACA-CA 7 129678378 129678378 single base substitution T C downstream_gene_variant PACA-CA 7 129678378 129678378 single base substitution T C intron_variant PACA-CA 7 129679241 129679241 single base substitution G C downstream_gene_variant PACA-CA 7 129679241 129679241 single base substitution G C intron_variant PACA-CA 7 129682742 129682742 single base substitution C T intron_variant PACA-CA 7 129682742 129682742 single base substitution C T upstream_gene_variant PACA-CA 7 129682965 129682965 single base substitution A C intron_variant PACA-CA 7 129682965 129682965 single base substitution A C upstream_gene_variant PACA-CA 7 129686111 129686111 single base substitution C A intron_variant PACA-CA 7 129687254 129687254 deletion of <=200bp A - intron_variant PACA-CA 7 129687945 129687945 single base substitution G A intron_variant PACA-CA 7 129688472 129688472 single base substitution C A intron_variant PAEN-AU 7 129664239 129664239 single base substitution T C 3_prime_UTR_variant PAEN-AU 7 129664239 129664239 single base substitution T C downstream_gene_variant PAEN-AU 7 129664239 129664239 single base substitution T C exon_variant PAEN-AU 7 129664239 129664239 single base substitution T C intron_variant PAEN-AU 7 129664239 129664239 single base substitution T C missense_variant D274G 821A>G PAEN-AU 7 129664239 129664239 single base substitution T C missense_variant D295G 884A>G PAEN-IT 7 129672855 129672855 single base substitution C T intron_variant PAEN-IT 7 129684779 129684779 single base substitution G T intron_variant PAEN-IT 7 129690074 129690074 single base substitution C T intron_variant PBCA-DE 7 129659803 129659803 single base substitution T A downstream_gene_variant PBCA-DE 7 129659803 129659803 single base substitution T A intron_variant PBCA-DE 7 129666284 129666284 single base substitution A G intron_variant PBCA-DE 7 129672463 129672464 deletion of <=200bp GA - intron_variant PBCA-DE 7 129673283 129673289 deletion of <=200bp TTCTTTT - intron_variant PBCA-DE 7 129679109 129679109 single base substitution G A downstream_gene_variant PBCA-DE 7 129679109 129679109 single base substitution G A intron_variant PBCA-DE 7 129689333 129689333 single base substitution T C intron_variant PRAD-UK 7 129656767 129656767 single base substitution G C downstream_gene_variant PRAD-UK 7 129689798 129689798 single base substitution C T intron_variant PRAD-US 7 129664155 129664155 single base substitution C A 3_prime_UTR_variant PRAD-US 7 129664155 129664155 single base substitution C A downstream_gene_variant PRAD-US 7 129664155 129664155 single base substitution C A exon_variant PRAD-US 7 129664155 129664155 single base substitution C A missense_variant R280L 839G>T PRAD-US 7 129664155 129664155 single base substitution C A missense_variant R302L 905G>T PRAD-US 7 129664155 129664155 single base substitution C A missense_variant R323L 968G>T READ-US 7 129662345 129662345 single base substitution G T 3_prime_UTR_variant READ-US 7 129662345 129662345 single base substitution G T downstream_gene_variant READ-US 7 129662345 129662345 single base substitution G T missense_variant F347L 1041C>A READ-US 7 129662345 129662345 single base substitution G T missense_variant F375L 1125C>A READ-US 7 129662345 129662345 single base substitution G T missense_variant F397L 1191C>A READ-US 7 129662345 129662345 single base substitution G T missense_variant F418L 1254C>A READ-US 7 129688954 129688954 single base substitution A C 3_prime_UTR_variant READ-US 7 129688954 129688954 single base substitution A C exon_variant READ-US 7 129688954 129688954 single base substitution A C intron_variant READ-US 7 129688954 129688954 single base substitution A C synonymous_variant V38V 114T>G READ-US 7 129688954 129688954 single base substitution A C synonymous_variant V59V 177T>G RECA-EU 7 129653206 129653206 single base substitution C A downstream_gene_variant RECA-EU 7 129658898 129658898 single base substitution T C downstream_gene_variant RECA-EU 7 129658898 129658898 single base substitution T C intron_variant RECA-EU 7 129664204 129664204 single base substitution C T 3_prime_UTR_variant RECA-EU 7 129664204 129664204 single base substitution C T downstream_gene_variant RECA-EU 7 129664204 129664204 single base substitution C T exon_variant RECA-EU 7 129664204 129664204 single base substitution C T missense_variant G264S 790G>A RECA-EU 7 129664204 129664204 single base substitution C T missense_variant G286S 856G>A RECA-EU 7 129664204 129664204 single base substitution C T missense_variant G307S 919G>A RECA-EU 7 129671164 129671164 single base substitution C A intron_variant RECA-EU 7 129675566 129675566 single base substitution C T downstream_gene_variant RECA-EU 7 129675566 129675566 single base substitution C T intron_variant RECA-EU 7 129680205 129680205 single base substitution G A intron_variant RECA-EU 7 129680205 129680205 single base substitution G A upstream_gene_variant RECA-EU 7 129684592 129684592 single base substitution A G intron_variant RECA-EU 7 129693625 129693625 single base substitution G C upstream_gene_variant SKCA-BR 7 129654129 129654129 single base substitution G A downstream_gene_variant SKCA-BR 7 129656942 129656942 single base substitution C T downstream_gene_variant SKCA-BR 7 129657119 129657119 single base substitution T C downstream_gene_variant SKCA-BR 7 129658325 129658325 single base substitution G A 3_prime_UTR_variant SKCA-BR 7 129659159 129659159 single base substitution G A downstream_gene_variant SKCA-BR 7 129659159 129659159 single base substitution G A intron_variant SKCA-BR 7 129659872 129659872 single base substitution G A downstream_gene_variant SKCA-BR 7 129659872 129659872 single base substitution G A intron_variant SKCA-BR 7 129661792 129661792 single base substitution A G downstream_gene_variant SKCA-BR 7 129661792 129661792 single base substitution A G intron_variant SKCA-BR 7 129661999 129661999 single base substitution G A downstream_gene_variant SKCA-BR 7 129661999 129661999 single base substitution G A intron_variant SKCA-BR 7 129662355 129662355 single base substitution G A 3_prime_UTR_variant SKCA-BR 7 129662355 129662355 single base substitution G A downstream_gene_variant SKCA-BR 7 129662355 129662355 single base substitution G A missense_variant S344F 1031C>T SKCA-BR 7 129662355 129662355 single base substitution G A missense_variant S372F 1115C>T SKCA-BR 7 129662355 129662355 single base substitution G A missense_variant S394F 1181C>T SKCA-BR 7 129662355 129662355 single base substitution G A missense_variant S415F 1244C>T SKCA-BR 7 129676132 129676132 single base substitution T G downstream_gene_variant SKCA-BR 7 129676132 129676132 single base substitution T G intron_variant SKCA-BR 7 129676135 129676135 single base substitution A G downstream_gene_variant SKCA-BR 7 129676135 129676135 single base substitution A G intron_variant SKCA-BR 7 129676247 129676247 single base substitution G A downstream_gene_variant SKCA-BR 7 129676247 129676247 single base substitution G A intron_variant SKCA-BR 7 129676339 129676339 single base substitution T G downstream_gene_variant SKCA-BR 7 129676339 129676339 single base substitution T G intron_variant SKCA-BR 7 129676671 129676671 single base substitution G A 3_prime_UTR_variant SKCA-BR 7 129676671 129676671 single base substitution G A downstream_gene_variant SKCA-BR 7 129676671 129676671 single base substitution G A intron_variant SKCA-BR 7 129677476 129677476 single base substitution C T downstream_gene_variant SKCA-BR 7 129677476 129677476 single base substitution C T intron_variant SKCA-BR 7 129680982 129680982 insertion of <=200bp - ATG intron_variant SKCA-BR 7 129680982 129680982 insertion of <=200bp - ATG upstream_gene_variant SKCA-BR 7 129684755 129684755 single base substitution T C intron_variant SKCA-BR 7 129684913 129684913 single base substitution G A intron_variant SKCA-BR 7 129687324 129687324 single base substitution G A intron_variant SKCA-BR 7 129687649 129687649 single base substitution T A intron_variant SKCA-BR 7 129688421 129688421 single base substitution G A intron_variant SKCA-BR 7 129693639 129693639 single base substitution G A upstream_gene_variant SKCM-US 7 129658533 129658533 single base substitution G A 3_prime_UTR_variant SKCM-US 7 129658533 129658533 single base substitution G A downstream_gene_variant SKCM-US 7 129658533 129658533 single base substitution G A missense_variant R423W 1267C>T SKCM-US 7 129658533 129658533 single base substitution G A missense_variant R451W 1351C>T SKCM-US 7 129658533 129658533 single base substitution G A missense_variant R473W 1417C>T SKCM-US 7 129658533 129658533 single base substitution G A missense_variant R494W 1480C>T SKCM-US 7 129658543 129658543 single base substitution G A 3_prime_UTR_variant SKCM-US 7 129658543 129658543 single base substitution G A downstream_gene_variant SKCM-US 7 129658543 129658543 single base substitution G A synonymous_variant F419F 1257C>T SKCM-US 7 129658543 129658543 single base substitution G A synonymous_variant F447F 1341C>T SKCM-US 7 129658543 129658543 single base substitution G A synonymous_variant F469F 1407C>T SKCM-US 7 129658543 129658543 single base substitution G A synonymous_variant F490F 1470C>T SKCM-US 7 129662210 129662210 single base substitution G A 3_prime_UTR_variant SKCM-US 7 129662210 129662210 single base substitution G A downstream_gene_variant SKCM-US 7 129662210 129662210 single base substitution G A synonymous_variant T392T 1176C>T SKCM-US 7 129662210 129662210 single base substitution G A synonymous_variant T420T 1260C>T SKCM-US 7 129662210 129662210 single base substitution G A synonymous_variant T442T 1326C>T SKCM-US 7 129662210 129662210 single base substitution G A synonymous_variant T463T 1389C>T SKCM-US 7 129663406 129663406 single base substitution G A 3_prime_UTR_variant SKCM-US 7 129663406 129663406 single base substitution G A downstream_gene_variant SKCM-US 7 129663406 129663406 single base substitution G A exon_variant SKCM-US 7 129663406 129663406 single base substitution G A intron_variant SKCM-US 7 129663406 129663406 single base substitution G A missense_variant P350L 1049C>T SKCM-US 7 129663406 129663406 single base substitution G A missense_variant P372L 1115C>T SKCM-US 7 129663406 129663406 single base substitution G A missense_variant P393L 1178C>T SKCM-US 7 129663458 129663458 single base substitution G A 3_prime_UTR_variant SKCM-US 7 129663458 129663458 single base substitution G A downstream_gene_variant SKCM-US 7 129663458 129663458 single base substitution G A exon_variant SKCM-US 7 129663458 129663458 single base substitution G A intron_variant SKCM-US 7 129663458 129663458 single base substitution G A missense_variant R333C 997C>T SKCM-US 7 129663458 129663458 single base substitution G A missense_variant R355C 1063C>T SKCM-US 7 129663458 129663458 single base substitution G A missense_variant R376C 1126C>T SKCM-US 7 129664305 129664305 single base substitution G A 3_prime_UTR_variant SKCM-US 7 129664305 129664305 single base substitution G A downstream_gene_variant SKCM-US 7 129664305 129664305 single base substitution G A exon_variant SKCM-US 7 129664305 129664305 single base substitution G A intron_variant SKCM-US 7 129664305 129664305 single base substitution G A missense_variant S252L 755C>T SKCM-US 7 129664305 129664305 single base substitution G A missense_variant S273L 818C>T SKCM-US 7 129668810 129668810 single base substitution G A 3_prime_UTR_variant SKCM-US 7 129668810 129668810 single base substitution G A exon_variant SKCM-US 7 129668810 129668810 single base substitution G A missense_variant R164C 490C>T SKCM-US 7 129668810 129668810 single base substitution G A missense_variant R185C 553C>T SKCM-US 7 129679332 129679332 single base substitution G A 3_prime_UTR_variant SKCM-US 7 129679332 129679332 single base substitution G A downstream_gene_variant SKCM-US 7 129679332 129679332 single base substitution G A exon_variant SKCM-US 7 129679332 129679332 single base substitution G A synonymous_variant F134F 402C>T SKCM-US 7 129679332 129679332 single base substitution G A synonymous_variant F155F 465C>T SKCM-US 7 129688901 129688901 single base substitution G A 3_prime_UTR_variant SKCM-US 7 129688901 129688901 single base substitution G A exon_variant SKCM-US 7 129688901 129688901 single base substitution G A intron_variant SKCM-US 7 129688901 129688901 single base substitution G A missense_variant A56V 167C>T SKCM-US 7 129688901 129688901 single base substitution G A missense_variant A77V 230C>T SKCM-US 7 129691083 129691083 single base substitution G A exon_variant SKCM-US 7 129691083 129691083 single base substitution G A missense_variant P42S 124C>T SKCM-US 7 129691083 129691083 single base substitution G A synonymous_variant P5P 15C>T SKCM-US 7 129691111 129691111 single base substitution G A 5_prime_UTR_variant SKCM-US 7 129691111 129691111 single base substitution G A exon_variant SKCM-US 7 129691111 129691111 single base substitution G A synonymous_variant I32I 96C>T STAD-US 7 129662199 129662199 single base substitution G A 3_prime_UTR_variant STAD-US 7 129662199 129662199 single base substitution G A downstream_gene_variant STAD-US 7 129662199 129662199 single base substitution G A missense_variant A396V 1187C>T STAD-US 7 129662199 129662199 single base substitution G A missense_variant A424V 1271C>T STAD-US 7 129662199 129662199 single base substitution G A missense_variant A446V 1337C>T STAD-US 7 129662199 129662199 single base substitution G A missense_variant A467V 1400C>T STAD-US 7 129663367 129663367 single base substitution C G 3_prime_UTR_variant STAD-US 7 129663367 129663367 single base substitution C G downstream_gene_variant STAD-US 7 129663367 129663367 single base substitution C G intron_variant STAD-US 7 129663367 129663367 single base substitution C G missense_variant C363S 1088G>C STAD-US 7 129663367 129663367 single base substitution C G missense_variant C385S 1154G>C STAD-US 7 129663367 129663367 single base substitution C G missense_variant C406S 1217G>C THCA-US 7 129666092 129666092 single base substitution G T 3_prime_UTR_variant THCA-US 7 129666092 129666092 single base substitution G T exon_variant THCA-US 7 129666092 129666092 single base substitution G T synonymous_variant R207R 619C>A THCA-US 7 129666092 129666092 single base substitution G T synonymous_variant R228R 682C>A UCEC-US 7 129658541 129658541 single base substitution C T 3_prime_UTR_variant UCEC-US 7 129658541 129658541 single base substitution C T downstream_gene_variant UCEC-US 7 129658541 129658541 single base substitution C T missense_variant R420Q 1259G>A UCEC-US 7 129658541 129658541 single base substitution C T missense_variant R448Q 1343G>A UCEC-US 7 129658541 129658541 single base substitution C T missense_variant R470Q 1409G>A UCEC-US 7 129658541 129658541 single base substitution C T missense_variant R491Q 1472G>A UCEC-US 7 129664192 129664192 single base substitution G T 3_prime_UTR_variant UCEC-US 7 129664192 129664192 single base substitution G T downstream_gene_variant UCEC-US 7 129664192 129664192 single base substitution G T exon_variant UCEC-US 7 129664192 129664192 single base substitution G T synonymous_variant R268R 802C>A UCEC-US 7 129664192 129664192 single base substitution G T synonymous_variant R290R 868C>A UCEC-US 7 129664192 129664192 single base substitution G T synonymous_variant R311R 931C>A UCEC-US 7 129666066 129666066 single base substitution G A 3_prime_UTR_variant UCEC-US 7 129666066 129666066 single base substitution G A downstream_gene_variant UCEC-US 7 129666066 129666066 single base substitution G A exon_variant UCEC-US 7 129666066 129666066 single base substitution G A synonymous_variant I215I 645C>T UCEC-US 7 129666066 129666066 single base substitution G A synonymous_variant I236I 708C>T UCEC-US 7 129666073 129666073 single base substitution G A 3_prime_UTR_variant UCEC-US 7 129666073 129666073 single base substitution G A downstream_gene_variant UCEC-US 7 129666073 129666073 single base substitution G A exon_variant UCEC-US 7 129666073 129666073 single base substitution G A missense_variant T213I 638C>T UCEC-US 7 129666073 129666073 single base substitution G A missense_variant T234I 701C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand ESCC-060T COSM3942017 c.1052G>A p.R351Q Substitution - Missense 7:130023692-130023692 - 2492703 COSM5716073 c.196G>A p.E66K Substitution - Missense 7:130049095-130049095 - TCGA-JW-A5VL-01 COSM4847582 c.242G>C p.R81T Substitution - Missense 7:130049049-130049049 - ESCC_45 COSM1488221 c.323T>G p.V108G Substitution - Missense 7:130041037-130041037 - TCGA-06-2564-01 COSM2152927 c.1345G>A p.D449N Substitution - Missense 7:130022414-130022414 - CSCC-11-T COSM4456338 c.1005C>T p.S335S Substitution - coding silent 7:130024278-130024278 - EV001-R1 COSM1161858 c.649C>A p.L217I Substitution - Missense 7:130026285-130026285 - AD58 COSM5966633 c.444_451delGTGTACTG p.L148fs*3 Deletion - Frameshift 7:130039506-130039513 - TCGA-FW-A3R5-06 COSM3922693 c.124C>T p.P42S Substitution - Missense 7:130051243-130051243 - TCGA-CJ-4644-01 COSM1137636 c.1310G>A p.G437D Substitution - Missense 7:130022449-130022449 - HT115 COSM2769876 c.1066G>C p.D356H Substitution - Missense 7:130023678-130023678 - YUKAT COSM5406497 c.99G>A p.R33R Substitution - coding silent 7:130051268-130051268 - pfg024T COSM1643243 c.1060A>T p.S354C Substitution - Missense 7:130023684-130023684 - sysucc-311T COSM5467015 c.866C>A p.S289* Substitution - Nonsense 7:130024417-130024417 - TCGA-EB-A44N-01 COSM3633220 c.1470C>T p.F490F Substitution - coding silent 7:130018703-130018703 - C0074T COSM4155409 c.919G>A p.G307S Substitution - Missense 7:130024364-130024364 - PCSI_0083_Pa_X COSM5420403 c.945A>G p.L315L Substitution - coding silent 7:130024338-130024338 - ESO-118 COSM1270768 c.156G>A p.T52T Substitution - coding silent 7:130049135-130049135 - TCGA-FD-A3SR-01 COSM3778106 c.389C>A p.P130Q Substitution - Missense 7:130040971-130040971 - EV001-M2a COSM1161858 c.649C>A p.L217I Substitution - Missense 7:130026285-130026285 - SC_9082 COSM5551297 c.13T>C p.C5R Substitution - Missense 7:130051354-130051354 - TCGA-DK-A1A3-01 COSM421599 c.67C>T p.R23C Substitution - Missense 7:130051300-130051300 - PCSI_0290_Pa_P_526 COSM4965139 c.1074C>A p.S358S Substitution - coding silent 7:130023670-130023670 - LUAD-YINHD COSM392685 c.35delT p.V12fs*10 Deletion - Frameshift 7:130051332-130051332 - ESCC-139T COSM3942019 c.983G>A p.R328Q Substitution - Missense 7:130024300-130024300 - SJACT005_D COSM4968058 c.667G>A p.D223N Substitution - Missense 7:130026267-130026267 - TCGA-CM-6674-01 COSM1448036 c.685A>T p.T229S Substitution - Missense 7:130026249-130026249 - PTC-28C COSM4161791 c.253T>C p.F85L Substitution - Missense 7:130049038-130049038 - STC297 COSM5062182 c.547C>T p.L183L Substitution - coding silent 7:130028976-130028976 - BD124T COSM5492309 c.88delC p.Q30fs*6 Deletion - Frameshift 7:130051279-130051279 - SE21PT COSM1488221 c.323T>G p.V108G Substitution - Missense 7:130041037-130041037 - TCGA-D3-A2JH-06 COSM3633230 c.230C>T p.A77V Substitution - Missense 7:130049061-130049061 - HDC87 COSM1755071 c.770C>T p.A257V Substitution - Missense 7:130026164-130026164 - TCGA-EE-A2MC-06 COSM3633232 c.96C>T p.I32I Substitution - coding silent 7:130051271-130051271 - TCGA-A5-A0VQ-01 COSM1085481 c.1472G>A p.R491Q Substitution - Missense 7:130018701-130018701 - TCGA-B0-5096-01 COSM484819 c.664_665GA>TT p.E222>? Complex 7:130026269-130026270 - TCGA-FW-A3R5-06 COSM3922689 c.1178C>T p.P393L Substitution - Missense 7:130023566-130023566 - HCC174 COSM3662925 c.16G>A p.E6K Substitution - Missense 7:130051351-130051351 - 87 COSM5014735 c.1115C>T p.T372I Substitution - Missense 7:130023629-130023629 - TCGA-AA-A010-01 COSM286635 c.1082T>C p.V361A Substitution - Missense 7:130023662-130023662 - pfg019T COSM1643242 c.1260T>C p.D420D Substitution - coding silent 7:130022499-130022499 - pfg143T COSM4761284 c.839G>A p.G280E Substitution - Missense 7:130024444-130024444 - TCGA-ER-A193-06 COSM3633226 c.553C>T p.R185C Substitution - Missense 7:130028970-130028970 - ESCC_66 COSM1488221 c.323T>G p.V108G Substitution - Missense 7:130041037-130041037 - TCGA-AP-A0LP-01 COSM1085485 c.680A>G p.H227R Substitution - Missense 7:130026254-130026254 - EV001-R5 COSM1161858 c.649C>A p.L217I Substitution - Missense 7:130026285-130026285 - 2492702 COSM5716073 c.196G>A p.E66K Substitution - Missense 7:130049095-130049095 - TCGA-D3-A3MU-06 COSM3633222 c.1389C>T p.T463T Substitution - coding silent 7:130022370-130022370 - S0045 COSM5884483 c.1234G>C p.D412H Substitution - Missense 7:130022525-130022525 - T3094 COSM4742346 c.144C>T p.D48D Substitution - coding silent 7:130051223-130051223 - ESO-157 COSM1270768 c.156G>A p.T52T Substitution - coding silent 7:130049135-130049135 - PT35 COSM5912729 c.1223C>T p.S408F Substitution - Missense 7:130023521-130023521 - Patient_4_Relapse COSM5415153 c.98G>T p.R33L Substitution - Missense 7:130051269-130051269 - ccRCC-68 COSM1665073 c.241A>G p.R81G Substitution - Missense 7:130049050-130049050 - PD4940a COSM3719341 c.642C>T p.I214I Substitution - coding silent 7:130026292-130026292 - TCGA-CC-A123-01 COSM4915262 c.1016A>G p.E339G Substitution - Missense 7:130024267-130024267 - Pat_32_A COSM5871822 c.496C>T p.R166* Substitution - Nonsense 7:130029027-130029027 - 001 COSM1161858 c.649C>A p.L217I Substitution - Missense 7:130026285-130026285 - T2269 COSM4742344 c.195G>A p.A65A Substitution - coding silent 7:130049096-130049096 - TCGA-AB-2832-03 COSM1319024 c.742G>A p.A248T Substitution - Missense 7:130026192-130026192 - EV001-R3 COSM1161858 c.649C>A p.L217I Substitution - Missense 7:130026285-130026285 - TCGA-F5-6814-01 COSM3431240 c.177T>G p.V59V Substitution - coding silent 7:130049114-130049114 - 2492701 COSM5716073 c.196G>A p.E66K Substitution - Missense 7:130049095-130049095 - 8065669 COSM4139332 c.884A>G p.D295G Substitution - Missense 7:130024399-130024399 - ESCC_BICR_066T COSM5444708 c.1097C>A p.P366Q Substitution - Missense 7:130023647-130023647 - YUOMEGA COSM3633226 c.553C>T p.R185C Substitution - Missense 7:130028970-130028970 - YUKAT COSM3633226 c.553C>T p.R185C Substitution - Missense 7:130028970-130028970 - TCGA-EE-A2GO-06 COSM177807 c.1480C>T p.R494W Substitution - Missense 7:130018693-130018693 - TCGA-A3-3365-01 COSM484821 c.43G>T p.E15* Substitution - Nonsense 7:130051324-130051324 - EV001-M2b COSM1161858 c.649C>A p.L217I Substitution - Missense 7:130026285-130026285 - EV001-R9 COSM1161858 c.649C>A p.L217I Substitution - Missense 7:130026285-130026285 - 256528 COSM3724996 c.70T>A p.S24T Substitution - Missense 7:130051297-130051297 - RK261_C02 COSM4779497 c.621+4A>G p.? Unknown 7:130028898-130028898 - TCGA-B0-5096-01 COSM484818 c.665A>T p.E222V Substitution - Missense 7:130026269-130026269 - TCGA-EE-A2GP-06 COSM3633224 c.1126C>T p.R376C Substitution - Missense 7:130023618-130023618 - RMS110_ COSM4987290 c.1193G>A p.R398Q Substitution - Missense 7:130023551-130023551 - TCGA-AA-3860-01 COSM272085 c.227A>T p.E76V Substitution - Missense 7:130049064-130049064 - HCC174T COSM3662925 c.16G>A p.E6K Substitution - Missense 7:130051351-130051351 - TCGA-C8-A26Y-01 COSM3831877 c.634G>C p.D212H Substitution - Missense 7:130026300-130026300 - I2L-P7-Tumor-Organoid COSM5358410 c.1409A>G p.Q470R Substitution - Missense 7:130022350-130022350 - TCGA-D1-A103-01 COSM1085484 c.701C>T p.T234I Substitution - Missense 7:130026233-130026233 - TCGA-EI-6917-01 COSM3431238 c.1254C>A p.F418L Substitution - Missense 7:130022505-130022505 - TCGA-FW-A3R5-06 COSM3922691 c.818C>T p.S273L Substitution - Missense 7:130024465-130024465 - B37-Tumor COSM1755071 c.770C>T p.A257V Substitution - Missense 7:130026164-130026164 - TCGA-FD-A3SL-01 COSM3778104 c.1167C>G p.G389G Substitution - coding silent 7:130023577-130023577 - TCGA-B0-5096-01 COSM484820 c.664G>T p.E222* Substitution - Nonsense 7:130026270-130026270 - CSCC-15-T COSM4462418 c.1246C>G p.R416G Substitution - Missense 7:130022513-130022513 - TCGA-A6-6140-01 COSM3762371 c.1088G>A p.R363H Substitution - Missense 7:130023656-130023656 - TCGA-AU-6004-01 COSM1448037 c.595C>A p.L199I Substitution - Missense 7:130028928-130028928 - C086 COSM5541948 c.1210C>T p.R404C Substitution - Missense 7:130023534-130023534 - TCGA-56-6546-01 COSM744572 c.700A>T p.T234S Substitution - Missense 7:130026234-130026234 - TCGA-B6-A0RE-01 COSM452327 c.1051C>T p.R351* Substitution - Nonsense 7:130023693-130023693 - EV001-R4 COSM1161858 c.649C>A p.L217I Substitution - Missense 7:130026285-130026285 - EV001-M1 COSM1161858 c.649C>A p.L217I Substitution - Missense 7:130026285-130026285 - TCGA-D8-A1J8-01 COSM3831879 c.403G>C p.D135H Substitution - Missense 7:130040957-130040957 - TCGA-HU-8602-01 COSM3878066 c.1400C>T p.A467V Substitution - Missense 7:130022359-130022359 - TCGA-CH-5767-01 COSM1471945 c.968G>T p.R323L Substitution - Missense 7:130024315-130024315 - 2492700 COSM5716073 c.196G>A p.E66K Substitution - Missense 7:130049095-130049095 - NB-2074 COSM1289019 c.1233G>A p.S411S Substitution - coding silent 7:130023511-130023511 - T3058 COSM4742342 c.289C>T p.L97L Substitution - coding silent 7:130041071-130041071 - TCGA-EE-A29R-06 COSM3633220 c.1470C>T p.F490F Substitution - coding silent 7:130018703-130018703 - EV001-R8 COSM1161858 c.649C>A p.L217I Substitution - Missense 7:130026285-130026285 - TCGA-D9-A3Z1-06 COSM3633228 c.465C>T p.F155F Substitution - coding silent 7:130039492-130039492 - 134421 COSM326907 c.1319G>A p.S440N Substitution - Missense 7:130022440-130022440 - PR-00-1823 COSM248428 c.769G>C p.A257P Substitution - Missense 7:130026165-130026165 - TCGA-EM-A3FO-01 COSM3374493 c.682C>A p.R228R Substitution - coding silent 7:130026252-130026252 - EV001-R2 COSM1161858 c.649C>A p.L217I Substitution - Missense 7:130026285-130026285 - TCGA-D8-A27N-01 COSM1488220 c.941G>T p.R314L Substitution - Missense 7:130024342-130024342 - PTC-28C COSM4161789 c.332A>C p.E111A Substitution - Missense 7:130041028-130041028 - B37 COSM1755071 c.770C>T p.A257V Substitution - Missense 7:130026164-130026164 - Pat_41_B COSM5871820 c.1483C>T p.Q495* Substitution - Nonsense 7:130018690-130018690 - HT55 COSM2769879 c.884A>T p.D295V Substitution - Missense 7:130024399-130024399 - TCGA-D1-A103-01 COSM1085482 c.931C>A p.R311R Substitution - coding silent 7:130024352-130024352 - TCGA-BR-7959-01 COSM3878068 c.1217G>C p.C406S Substitution - Missense 7:130023527-130023527 - YUWIA COSM5406495 c.1244C>T p.S415F Substitution - Missense 7:130022515-130022515 - NBL5 COSM1289020 c.862G>T p.E288* Substitution - Nonsense 7:130024421-130024421 - TCGA-AP-A0LM-01 COSM1085483 c.708C>T p.I236I Substitution - coding silent 7:130026226-130026226 - 9227_T COSM5043007 c.270G>A p.W90* Substitution - Nonsense 7:130041090-130041090 - 61 COSM5738159 c.1192C>T p.R398W Substitution - Missense 7:130023552-130023552 - TCGA-EJ-7125-01 COSM1471945 c.968G>T p.R323L Substitution - Missense 7:130024315-130024315 - Pat_45_B COSM5871824 c.338A>G p.D113G Substitution - Missense 7:130041022-130041022 - RK284_C01 COSM4943344 c.887C>T p.A296V Substitution - Missense 7:130024396-130024396 - TCGA-A3-3367-01 COSM484817 c.689A>C p.D230A Substitution - Missense 7:130026245-130026245 - TCGA-FD-A3SJ-01 COSM3778108 c.226G>C p.E76Q Substitution - Missense 7:130049065-130049065 - TCGA-DK-A3IS-01 COSM1312680 c.295C>G p.P99A Substitution - Missense 7:130041065-130041065 - ESO-250 COSM1270769 c.847G>A p.G283S Substitution - Missense 7:130024436-130024436 - I2L-P19Tb-Tumor-Biopsy COSM5358146 c.146C>T p.A49V Substitution - Missense 7:130051221-130051221 - I2L-P19Tb-Tumor-Organoid COSM5358146 c.146C>T p.A49V Substitution - Missense 7:130051221-130051221 - T3091 COSM4742340 c.755_756delCT p.S252fs*7 Deletion - Frameshift 7:130026178-130026179 - LUAD-CHTN-Z4716A COSM362579 c.1172A>T p.E391V Substitution - Missense 7:130023572-130023572 - PTC-7C COSM4161787 c.811A>G p.T271A Substitution - Missense 7:130024472-130024472 - TCGA-06-2564 COSM2152927 c.1345G>A p.D449N Substitution - Missense 7:130022414-130022414 - TCGA-EE-A2MK-06 COSM3633226 c.553C>T p.R185C Substitution - Missense 7:130028970-130028970 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.194152;Hs.194157 7q32.2 2411755|CGAP|BC011551|A/G|coding|Ala271Thr|811|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.V108G c.323T>G 7 129680877 BRCA ACTGTGA - Frameshift p.V108Gfs*35 c.323_329delTCACAGT 7 129680871 BRCA A G IntronicSNV . c.622-132T>C 7 129666284 MB A G Synonymous p.D420D c.1260T>C 7 129662339 STAD C A Missense p.D230Y c.688G>T 7 129666086 BRCA C A Missense p.R314L c.941G>T 7 129664182 BRCA C A Missense p.R323L c.968G>T 7 129664155 PRAD C A Nonsense p.E222* c.664G>T 7 129666110 RCCC C A Nonsense p.E288* c.862G>T 7 129664261 NB C G Missense p.S381T c.1142G>C 7 129663442 COREAD C T IntronicSNV . c.1441-1374G>A 7 129659946 CLL C T IntronicSNV . c.259-2618G>A 7 129683559 HC C T Missense p.A248T c.742G>A 7 129666032 AML C T Missense p.D113N c.337G>A 7 129680863 STAD C T Missense p.D449N c.1345G>A 7 129662254 GBM C T Missense p.G283S c.847G>A 7 129664276 ESCA C T Missense p.R380Q c.1139G>A 7 129663445 HNSC C T Missense p.R491Q c.1472G>A 7 129658541 UCEC C T Missense p.S440N c.1319G>A 7 129662280 SCLC C T Synonymous p.E153E c.459G>A 7 129679338 HNSC C T Synonymous p.S411S c.1233G>A 7 129663351 NB C T Synonymous p.T52T c.156G>A 7 129688975 ESCA G A Missense p.A126V c.377C>T 7 129680823 STAD G A Missense p.A77V c.230C>T 7 129688901 CM G A Missense p.R185C c.553C>T 7 129668810 CM G A Missense p.R23C c.67C>T 7 129691140 BLCA G A Missense p.R376C c.1126C>T 7 129663458 CM G A Missense p.R494W c.1480C>T 7 129658533 CM G A Nonsense p.R351* c.1051C>T 7 129663533 BRCA G A Synonymous p.F490F c.1470C>T 7 129658543 CM G A Synonymous p.I32I c.96C>T 7 129691111 CM G A Synonymous p.T301T c.903C>T 7 129664220 CM G A Synonymous p.T463T c.1389C>T 7 129662210 CM G C Missense p.P99A c.295C>G 7 129680905 BLCA G C Missense p.S471C c.1412C>G 7 129662187 MM G - Frameshift p.T372Pfs*7 c.1113delC 7 129663471 RCCC T A Missense p.E222V c.665A>T 7 129666109 RCCC T A Missense p.E76V c.227A>T 7 129688904 COREAD T A Missense p.S354C c.1060A>T 7 129663524 STAD T A Missense p.T234S c.700A>T 7 129666074 LUSC