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 17 79974915 79974916 + Frame_Shift_Del DEL CT CT - TCGA-OR-A5KO-01A-11D-A29I-10 TCGA-OR-A5KO-10A-01D-A29L-10 g.chr17:79974915_79974916delCT c.1574_1575delCT c.(1573-1575)cctfs p.P525fs BLCA 17 79941434 79941434 + Nonsense_Mutation SNP C C T TCGA-CU-A72E-01A-12D-A339-08 TCGA-CU-A72E-10A-01D-A339-08 g.chr17:79941434C>T c.163C>T c.(163-165)Cag>Tag p.Q55* BLCA 17 79941448 79941448 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr17:79941448C>T c.177C>T c.(175-177)ctC>ctT p.L59L BLCA 17 79943433 79943433 + Silent SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 g.chr17:79943433C>T c.324C>T c.(322-324)ttC>ttT p.F108F BLCA 17 79954396 79954396 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 g.chr17:79954396G>A c.607G>A c.(607-609)Gaa>Aaa p.E203K BLCA 17 79954410 79954410 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 g.chr17:79954410C>T c.621C>T c.(619-621)ctC>ctT p.L207L BLCA 17 79954451 79954451 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 g.chr17:79954451C>T c.662C>T c.(661-663)tCa>tTa p.S221L BLCA 17 79954649 79954649 + Missense_Mutation SNP C C T TCGA-E5-A4TZ-01A-11D-A31L-08 TCGA-E5-A4TZ-10B-01D-A31J-08 g.chr17:79954649C>T c.860C>T c.(859-861)tCg>tTg p.S287L BLCA 17 79970157 79970157 + Nonsense_Mutation SNP C C T TCGA-4Z-AA7Y-01A-11D-A391-08 TCGA-4Z-AA7Y-10A-01D-A394-08 g.chr17:79970157C>T c.1351C>T c.(1351-1353)Cag>Tag p.Q451* BLCA 17 79970159 79970159 + Splice_Site SNP G G A TCGA-GU-A42P-01A-11D-A23U-08 TCGA-GU-A42P-10A-01D-A23U-08 g.chr17:79970159G>A c.1353G>A c.(1351-1353)caG>caA p.Q451Q BRCA 17 79941456 79941456 + Missense_Mutation SNP C C A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr17:79941456C>A c.185C>A c.(184-186)tCt>tAt p.S62Y BRCA 17 79952733 79952733 + Silent SNP C C T TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr17:79952733C>T c.411C>T c.(409-411)gtC>gtT p.V137V BRCA 17 79966993 79966993 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 g.chr17:79966993G>A c.1014G>A c.(1012-1014)gcG>gcA p.A338A BRCA 17 79967367 79967367 + Missense_Mutation SNP G G A TCGA-AO-A128-01A-11D-A10M-09 TCGA-AO-A128-10A-01D-A10M-09 g.chr17:79967367G>A c.1094G>A c.(1093-1095)cGc>cAc p.R365H CESC 17 79954696 79954696 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 g.chr17:79954696C>T c.907C>T c.(907-909)Ccc>Tcc p.P303S COAD 17 79941511 79941511 + Silent SNP C C T TCGA-D5-6924-01A-11D-1924-10 TCGA-D5-6924-10A-01D-1924-10 g.chr17:79941511C>T c.240C>T c.(238-240)ccC>ccT p.P80P COAD 17 79943408 79943408 + Missense_Mutation SNP A A G TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr17:79943408A>G c.299A>G c.(298-300)gAt>gGt p.D100G COAD 17 79952696 79952696 + Splice_Site SNP G G T TCGA-D5-6532-01A-11D-1719-10 TCGA-D5-6532-10A-01D-1719-10 g.chr17:79952696G>T c.e5-1 COAD 17 79952744 79952744 + Missense_Mutation SNP C C T TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr17:79952744C>T c.422C>T c.(421-423)aCg>aTg p.T141M COADREAD 17 79941511 79941511 + Silent SNP C C T TCGA-D5-6924-01A-11D-1924-10 TCGA-D5-6924-10A-01D-1924-10 g.chr17:79941511C>T c.240C>T c.(238-240)ccC>ccT p.P80P COADREAD 17 79943408 79943408 + Missense_Mutation SNP A A G TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr17:79943408A>G c.299A>G c.(298-300)gAt>gGt p.D100G COADREAD 17 79952696 79952696 + Splice_Site SNP G G T TCGA-D5-6532-01A-11D-1719-10 TCGA-D5-6532-10A-01D-1719-10 g.chr17:79952696G>T c.e5-1 COADREAD 17 79952744 79952744 + Missense_Mutation SNP C C T TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr17:79952744C>T c.422C>T c.(421-423)aCg>aTg p.T141M COADREAD 17 79967066 79967066 + Splice_Site SNP C C T TCGA-DY-A0XA-01A-11D-A152-10 TCGA-DY-A0XA-10A-01D-A152-10 g.chr17:79967066C>T c.1087C>T c.(1087-1089)Cgg>Tgg p.R363W COADREAD 17 79974392 79974392 + Missense_Mutation SNP A A G TCGA-EF-5830-01A-01D-1657-10 TCGA-EF-5830-10A-01D-1657-10 g.chr17:79974392A>G c.1394A>G c.(1393-1395)gAg>gGg p.E465G DLBC 17 79941511 79941511 + Silent SNP C C T TCGA-G8-6906-01A-11D-2210-10 TCGA-G8-6906-14A-01D-2210-10 g.chr17:79941511C>T c.240C>T c.(238-240)ccC>ccT p.P80P DLBC 17 79941511 79941511 + Silent SNP C C T TCGA-GR-7351-01A-11D-2210-10 TCGA-GR-7351-10A-01D-2210-10 g.chr17:79941511C>T c.240C>T c.(238-240)ccC>ccT p.P80P DLBC 17 79943475 79943475 + Silent SNP A A G TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr17:79943475A>G c.366A>G c.(364-366)ccA>ccG p.P122P ESCA 17 79954650 79954650 + Silent SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 g.chr17:79954650G>A c.861G>A c.(859-861)tcG>tcA p.S287S ESCA 17 79970144 79970144 + Silent SNP G G A TCGA-L5-A43I-01A-11D-A247-09 TCGA-L5-A43I-11A-11D-A247-09 g.chr17:79970144G>A c.1338G>A c.(1336-1338)acG>acA p.T446T ESCA 17 79974398 79974398 + Missense_Mutation SNP C C T TCGA-LN-A4MQ-01A-11D-A28B-09 TCGA-LN-A4MQ-10A-01D-A28E-09 g.chr17:79974398C>T c.1400C>T c.(1399-1401)cCg>cTg p.P467L GBM 17 79953896 79953896 + Missense_Mutation SNP C C T TCGA-06-0155-01B-01D-1492-08 TCGA-06-0155-10A-01D-1492-08 g.chr17:79953896C>T c.461C>T c.(460-462)aCg>aTg p.T154M GBMLGG 17 79943447 79943447 + Missense_Mutation SNP C C G TCGA-FG-8188-01A-11D-2253-08 TCGA-FG-8188-10A-01D-2253-08 g.chr17:79943447C>G c.338C>G c.(337-339)aCc>aGc p.T113S GBMLGG 17 79953896 79953896 + Missense_Mutation SNP C C T TCGA-06-0155-01B-01D-1492-08 TCGA-06-0155-10A-01D-1492-08 g.chr17:79953896C>T c.461C>T c.(460-462)aCg>aTg p.T154M HNSC 17 79954344 79954344 + Silent SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 g.chr17:79954344G>C c.555G>C c.(553-555)ctG>ctC p.L185L HNSC 17 79954516 79954516 + Missense_Mutation SNP G G C TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 g.chr17:79954516G>C c.727G>C c.(727-729)Gtt>Ctt p.V243L HNSC 17 79954550 79954550 + Missense_Mutation SNP G G T TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 g.chr17:79954550G>T c.761G>T c.(760-762)gGc>gTc p.G254V HNSC 17 79966949 79966949 + Missense_Mutation SNP G G T TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 g.chr17:79966949G>T c.970G>T c.(970-972)Gtg>Ttg p.V324L HNSC 17 79974881 79974881 + Missense_Mutation SNP G G C TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 g.chr17:79974881G>C c.1540G>C c.(1540-1542)Gag>Cag p.E514Q KIPAN 17 79941541 79941541 + Silent SNP C C T TCGA-B0-5706-01A-11D-1534-10 TCGA-B0-5706-11A-01D-1534-10 g.chr17:79941541C>T c.270C>T c.(268-270)aaC>aaT p.N90N KIPAN 17 79954308 79954308 + Missense_Mutation SNP G G T TCGA-BP-4963-01A-01D-1462-08 TCGA-BP-4963-11A-01D-1462-08 g.chr17:79954308G>T c.519G>T c.(517-519)aaG>aaT p.K173N KIRC 17 79941541 79941541 + Silent SNP C C T TCGA-B0-5706-01A-11D-1534-10 TCGA-B0-5706-11A-01D-1534-10 g.chr17:79941541C>T c.270C>T c.(268-270)aaC>aaT p.N90N KIRC 17 79954308 79954308 + Missense_Mutation SNP G G T TCGA-BP-4963-01A-01D-1462-08 TCGA-BP-4963-11A-01D-1462-08 g.chr17:79954308G>T c.519G>T c.(517-519)aaG>aaT p.K173N LGG 17 79943447 79943447 + Missense_Mutation SNP C C G TCGA-FG-8188-01A-11D-2253-08 TCGA-FG-8188-10A-01D-2253-08 g.chr17:79943447C>G c.338C>G c.(337-339)aCc>aGc p.T113S LIHC 17 79954362 79954363 + Frame_Shift_Ins INS - - G TCGA-CC-5258-01A-01D-A12Z-10 TCGA-CC-5258-10A-01D-A12Z-10 g.chr17:79954362_79954363insG c.573_574insG c.(574-576)ggcfs p.G192fs LIHC 17 79974909 79974909 + Missense_Mutation SNP T T A TCGA-MI-A75H-01A-11D-A32G-10 TCGA-MI-A75H-10A-01D-A32G-10 g.chr17:79974909T>A c.1568T>A c.(1567-1569)gTc>gAc p.V523D LUAD 17 79943454 79943454 + Missense_Mutation SNP G G C TCGA-69-7765-01A-11D-2167-08 TCGA-69-7765-10A-01D-2167-08 g.chr17:79943454G>C c.345G>C c.(343-345)tgG>tgC p.W115C LUAD 17 79954395 79954395 + Missense_Mutation SNP G G T TCGA-50-5946-01A-11D-1753-08 TCGA-50-5946-10A-01D-1753-08 g.chr17:79954395G>T c.606G>T c.(604-606)ttG>ttT p.L202F LUAD 17 79954652 79954652 + Missense_Mutation SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 g.chr17:79954652G>T c.863G>T c.(862-864)gGc>gTc p.G288V LUAD 17 79968734 79968734 + Silent SNP C C A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 g.chr17:79968734C>A c.1227C>A c.(1225-1227)ccC>ccA p.P409P LUAD 17 79974936 79974936 + Missense_Mutation SNP C C T TCGA-55-7913-01B-11D-2238-08 TCGA-55-7913-10A-01D-2238-08 g.chr17:79974936C>T c.1595C>T c.(1594-1596)gCc>gTc p.A532V LUSC 17 79974718 79974718 + Missense_Mutation SNP C C T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 g.chr17:79974718C>T c.1448C>T c.(1447-1449)cCa>cTa p.P483L LUSC 17 79974979 79974979 + Silent SNP G G A TCGA-66-2793-01A-01D-1267-08 TCGA-66-2793-11A-01D-1267-08 g.chr17:79974979G>A c.1638G>A c.(1636-1638)ctG>ctA p.L546L OV 17 79974680 79974680 + Silent SNP C C G TCGA-29-1776-01A-01W-0639-09 TCGA-29-1776-10A-01W-0639-09 g.chr17:79974680C>G c.1410C>G c.(1408-1410)gtC>gtG p.V470V PRAD 17 79941442 79941442 + Silent SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr17:79941442C>T c.171C>T c.(169-171)agC>agT p.S57S PRAD 17 79954527 79954527 + Silent SNP G G A TCGA-KK-A59V-01A-11D-A29Q-08 TCGA-KK-A59V-11A-11D-A29Q-08 g.chr17:79954527G>A c.738G>A c.(736-738)tcG>tcA p.S246S READ 17 79967066 79967066 + Splice_Site SNP C C T TCGA-DY-A0XA-01A-11D-A152-10 TCGA-DY-A0XA-10A-01D-A152-10 g.chr17:79967066C>T c.1087C>T c.(1087-1089)Cgg>Tgg p.R363W READ 17 79974392 79974392 + Missense_Mutation SNP A A G TCGA-EF-5830-01A-01D-1657-10 TCGA-EF-5830-10A-01D-1657-10 g.chr17:79974392A>G c.1394A>G c.(1393-1395)gAg>gGg p.E465G SKCM 17 79941490 79941490 + Silent SNP T T C TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr17:79941490T>C c.219T>C c.(217-219)aaT>aaC p.N73N SKCM 17 79954353 79954353 + Silent SNP A A G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 g.chr17:79954353A>G c.564A>G c.(562-564)tcA>tcG p.S188S SKCM 17 79954429 79954429 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 g.chr17:79954429C>T c.640C>T c.(640-642)Cgt>Tgt p.R214C SKCM 17 79954519 79954519 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr17:79954519C>T c.730C>T c.(730-732)Cct>Tct p.P244S SKCM 17 79954519 79954519 + Missense_Mutation SNP C C T TCGA-FS-A1ZA-06A-11D-A197-08 TCGA-FS-A1ZA-10A-01D-A199-08 g.chr17:79954519C>T c.730C>T c.(730-732)Cct>Tct p.P244S SKCM 17 79954604 79954604 + Missense_Mutation SNP C C T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 g.chr17:79954604C>T c.815C>T c.(814-816)tCc>tTc p.S272F SKCM 17 79954661 79954661 + Missense_Mutation SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr17:79954661C>T c.872C>T c.(871-873)cCc>cTc p.P291L SKCM 17 79954687 79954687 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr17:79954687G>A c.898G>A c.(898-900)Gag>Aag p.E300K SKCM 17 79968740 79968740 + Silent SNP G G A TCGA-FR-A44A-06A-11D-A24R-08 TCGA-FR-A44A-10A-01D-A24R-08 g.chr17:79968740G>A c.1233G>A c.(1231-1233)gaG>gaA p.E411E SKCM 17 79974728 79974728 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 g.chr17:79974728C>T c.1458C>T c.(1456-1458)gcC>gcT p.A486A SKCM 17 79974915 79974915 + Missense_Mutation SNP C C T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 g.chr17:79974915C>T c.1574C>T c.(1573-1575)cCt>cTt p.P525L

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 17 79954337 79954337 single base substitution G A 3_prime_UTR_variant BLCA-CN 17 79954337 79954337 single base substitution G A downstream_gene_variant BLCA-CN 17 79954337 79954337 single base substitution G A exon_variant BLCA-CN 17 79954337 79954337 single base substitution G A intron_variant BLCA-CN 17 79954337 79954337 single base substitution G A missense_variant G106E 317G>A BLCA-CN 17 79954337 79954337 single base substitution G A missense_variant G12E 35G>A BLCA-CN 17 79954337 79954337 single base substitution G A missense_variant G180E 539G>A BLCA-CN 17 79954337 79954337 single base substitution G A missense_variant G183E 548G>A BLCA-CN 17 79977046 79977046 single base substitution T C downstream_gene_variant BLCA-US 17 79941448 79941448 single base substitution C T 3_prime_UTR_variant BLCA-US 17 79941448 79941448 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BLCA-US 17 79941448 79941448 single base substitution C T exon_variant BLCA-US 17 79941448 79941448 single base substitution C T synonymous_variant L39L 117C>T BLCA-US 17 79941448 79941448 single base substitution C T synonymous_variant L56L 168C>T BLCA-US 17 79941448 79941448 single base substitution C T synonymous_variant L59L 177C>T BLCA-US 17 79954451 79954451 single base substitution C T 3_prime_UTR_variant BLCA-US 17 79954451 79954451 single base substitution C T downstream_gene_variant BLCA-US 17 79954451 79954451 single base substitution C T exon_variant BLCA-US 17 79954451 79954451 single base substitution C T intron_variant BLCA-US 17 79954451 79954451 single base substitution C T missense_variant S144L 431C>T BLCA-US 17 79954451 79954451 single base substitution C T missense_variant S218L 653C>T BLCA-US 17 79954451 79954451 single base substitution C T missense_variant S221L 662C>T BLCA-US 17 79954451 79954451 single base substitution C T missense_variant S50L 149C>T BRCA-EU 17 79931189 79931189 single base substitution C A upstream_gene_variant BRCA-EU 17 79931508 79931508 single base substitution G A upstream_gene_variant BRCA-EU 17 79931993 79931993 single base substitution G A upstream_gene_variant BRCA-EU 17 79932373 79932373 insertion of <=200bp - GA upstream_gene_variant BRCA-EU 17 79932848 79932848 single base substitution G A upstream_gene_variant BRCA-EU 17 79933030 79933030 single base substitution A C upstream_gene_variant BRCA-EU 17 79934378 79934378 single base substitution C T upstream_gene_variant BRCA-EU 17 79935125 79935125 single base substitution G C intron_variant BRCA-EU 17 79935125 79935125 single base substitution G C upstream_gene_variant BRCA-EU 17 79936966 79936966 single base substitution C G intron_variant BRCA-EU 17 79937061 79937061 single base substitution T C intron_variant BRCA-EU 17 79937061 79937061 single base substitution T C missense_variant V15A 44T>C BRCA-EU 17 79937061 79937061 single base substitution T C missense_variant V32A 95T>C BRCA-EU 17 79937061 79937061 single base substitution T C missense_variant V35A 104T>C BRCA-EU 17 79937061 79937061 single base substitution T C splice_region_variant BRCA-EU 17 79937852 79937852 deletion of <=200bp T - intron_variant BRCA-EU 17 79937852 79937852 insertion of <=200bp - T intron_variant BRCA-EU 17 79938638 79938638 single base substitution G A intron_variant BRCA-EU 17 79940421 79940421 single base substitution G T intron_variant BRCA-EU 17 79940646 79940646 single base substitution C G intron_variant BRCA-EU 17 79940939 79940939 single base substitution C G intron_variant BRCA-EU 17 79940972 79940972 single base substitution C T intron_variant BRCA-EU 17 79943792 79943792 single base substitution C T downstream_gene_variant BRCA-EU 17 79943792 79943792 single base substitution C T intron_variant BRCA-EU 17 79943834 79943859 multiple base substitution (>=2bp and <=200bp) GGGATCATAAGGTCTCTTTTTTTTAA GCCCGAGT downstream_gene_variant BRCA-EU 17 79943834 79943859 multiple base substitution (>=2bp and <=200bp) GGGATCATAAGGTCTCTTTTTTTTAA GCCCGAGT intron_variant BRCA-EU 17 79945283 79945325 deletion of <=200bp GGAAAGATGAACGTCTGGAAGGAAATGCCCCTGGGCCGGGCGG - downstream_gene_variant BRCA-EU 17 79945283 79945325 deletion of <=200bp GGAAAGATGAACGTCTGGAAGGAAATGCCCCTGGGCCGGGCGG - intron_variant BRCA-EU 17 79946657 79946657 single base substitution G T intron_variant BRCA-EU 17 79948216 79948216 single base substitution G T intron_variant BRCA-EU 17 79949007 79949007 single base substitution C G intron_variant BRCA-EU 17 79949007 79949007 single base substitution C G upstream_gene_variant BRCA-EU 17 79949079 79949079 single base substitution C G intron_variant BRCA-EU 17 79949079 79949079 single base substitution C G upstream_gene_variant BRCA-EU 17 79949682 79949682 single base substitution C T intron_variant BRCA-EU 17 79949682 79949682 single base substitution C T upstream_gene_variant BRCA-EU 17 79950227 79950227 single base substitution C T intron_variant BRCA-EU 17 79950227 79950227 single base substitution C T upstream_gene_variant BRCA-EU 17 79950357 79950357 single base substitution G C intron_variant BRCA-EU 17 79950357 79950357 single base substitution G C upstream_gene_variant BRCA-EU 17 79950358 79950358 single base substitution G T intron_variant BRCA-EU 17 79950358 79950358 single base substitution G T upstream_gene_variant BRCA-EU 17 79950979 79950979 single base substitution C G intron_variant BRCA-EU 17 79950979 79950979 single base substitution C G upstream_gene_variant BRCA-EU 17 79951420 79951420 single base substitution C G intron_variant BRCA-EU 17 79951420 79951420 single base substitution C G upstream_gene_variant BRCA-EU 17 79954998 79954998 single base substitution G T downstream_gene_variant BRCA-EU 17 79954998 79954998 single base substitution G T intron_variant BRCA-EU 17 79955135 79955135 single base substitution G A downstream_gene_variant BRCA-EU 17 79955135 79955135 single base substitution G A intron_variant BRCA-EU 17 79956850 79956850 single base substitution C T downstream_gene_variant BRCA-EU 17 79956850 79956850 single base substitution C T intron_variant BRCA-EU 17 79957497 79957497 single base substitution C A downstream_gene_variant BRCA-EU 17 79957497 79957497 single base substitution C A intron_variant BRCA-EU 17 79957497 79957497 single base substitution C A upstream_gene_variant BRCA-EU 17 79958761 79958761 single base substitution C T downstream_gene_variant BRCA-EU 17 79958761 79958761 single base substitution C T intron_variant BRCA-EU 17 79958761 79958761 single base substitution C T upstream_gene_variant BRCA-EU 17 79959788 79959788 single base substitution G A intron_variant BRCA-EU 17 79959788 79959788 single base substitution G A upstream_gene_variant BRCA-EU 17 79960256 79960256 insertion of <=200bp - C intron_variant BRCA-EU 17 79960256 79960256 insertion of <=200bp - C upstream_gene_variant BRCA-EU 17 79961730 79961730 single base substitution G A intron_variant BRCA-EU 17 79961730 79961730 single base substitution G A upstream_gene_variant BRCA-EU 17 79962029 79962029 single base substitution A G intron_variant BRCA-EU 17 79962029 79962029 single base substitution A G upstream_gene_variant BRCA-EU 17 79963122 79963122 single base substitution C T exon_variant BRCA-EU 17 79963122 79963122 single base substitution C T intron_variant BRCA-EU 17 79963122 79963122 single base substitution C T upstream_gene_variant BRCA-EU 17 79964689 79964689 deletion of <=200bp G - exon_variant BRCA-EU 17 79964689 79964689 deletion of <=200bp G - intron_variant BRCA-EU 17 79964689 79964689 deletion of <=200bp G - upstream_gene_variant BRCA-EU 17 79966207 79966207 single base substitution G C exon_variant BRCA-EU 17 79966207 79966207 single base substitution G C intron_variant BRCA-EU 17 79966207 79966207 single base substitution G C upstream_gene_variant BRCA-EU 17 79967512 79967512 single base substitution G A downstream_gene_variant BRCA-EU 17 79967512 79967512 single base substitution G A intron_variant BRCA-EU 17 79967512 79967512 single base substitution G A upstream_gene_variant BRCA-EU 17 79969606 79969606 single base substitution C A downstream_gene_variant BRCA-EU 17 79969606 79969606 single base substitution C A intron_variant BRCA-EU 17 79969606 79969606 single base substitution C A upstream_gene_variant BRCA-EU 17 79969999 79969999 single base substitution C T downstream_gene_variant BRCA-EU 17 79969999 79969999 single base substitution C T exon_variant BRCA-EU 17 79969999 79969999 single base substitution C T intron_variant BRCA-EU 17 79969999 79969999 single base substitution C T upstream_gene_variant BRCA-EU 17 79971417 79971417 single base substitution C A downstream_gene_variant BRCA-EU 17 79971417 79971417 single base substitution C A exon_variant BRCA-EU 17 79971417 79971417 single base substitution C A intron_variant BRCA-EU 17 79971417 79971417 single base substitution C A upstream_gene_variant BRCA-EU 17 79971537 79971537 single base substitution A T downstream_gene_variant BRCA-EU 17 79971537 79971537 single base substitution A T exon_variant BRCA-EU 17 79971537 79971537 single base substitution A T intron_variant BRCA-EU 17 79971537 79971537 single base substitution A T upstream_gene_variant BRCA-EU 17 79972524 79972524 single base substitution C G downstream_gene_variant BRCA-EU 17 79972524 79972524 single base substitution C G exon_variant BRCA-EU 17 79972524 79972524 single base substitution C G intron_variant BRCA-EU 17 79972524 79972524 single base substitution C G upstream_gene_variant BRCA-EU 17 79973593 79973593 single base substitution A G downstream_gene_variant BRCA-EU 17 79973593 79973593 single base substitution A G exon_variant BRCA-EU 17 79973593 79973593 single base substitution A G intron_variant BRCA-EU 17 79973593 79973593 single base substitution A G upstream_gene_variant BRCA-EU 17 79975623 79975623 insertion of <=200bp - C downstream_gene_variant BRCA-EU 17 79976352 79976352 single base substitution G A downstream_gene_variant BRCA-EU 17 79977559 79977559 single base substitution C T downstream_gene_variant BRCA-EU 17 79979998 79979998 single base substitution G C downstream_gene_variant BRCA-EU 17 79980254 79980254 single base substitution G C downstream_gene_variant BRCA-FR 17 79931189 79931189 single base substitution C A upstream_gene_variant BRCA-FR 17 79931993 79931993 single base substitution G A upstream_gene_variant BRCA-FR 17 79935125 79935125 single base substitution G C intron_variant BRCA-FR 17 79935125 79935125 single base substitution G C upstream_gene_variant BRCA-FR 17 79961178 79961178 single base substitution G A intron_variant BRCA-FR 17 79961178 79961178 single base substitution G A upstream_gene_variant BRCA-FR 17 79971417 79971417 single base substitution C A downstream_gene_variant BRCA-FR 17 79971417 79971417 single base substitution C A exon_variant BRCA-FR 17 79971417 79971417 single base substitution C A intron_variant BRCA-FR 17 79971417 79971417 single base substitution C A upstream_gene_variant BRCA-UK 17 79968695 79968695 single base substitution G T 3_prime_UTR_variant BRCA-UK 17 79968695 79968695 single base substitution G T downstream_gene_variant BRCA-UK 17 79968695 79968695 single base substitution G T exon_variant BRCA-UK 17 79968695 79968695 single base substitution G T synonymous_variant L225L 675G>T BRCA-UK 17 79968695 79968695 single base substitution G T synonymous_variant L319L 957G>T BRCA-UK 17 79968695 79968695 single base substitution G T synonymous_variant L396L 1188G>T BRCA-UK 17 79968695 79968695 single base substitution G T synonymous_variant L3L 9G>T BRCA-UK 17 79968695 79968695 single base substitution G T upstream_gene_variant BRCA-UK 17 79969316 79969316 single base substitution C T downstream_gene_variant BRCA-UK 17 79969316 79969316 single base substitution C T intron_variant BRCA-UK 17 79969316 79969316 single base substitution C T upstream_gene_variant BRCA-UK 17 79969707 79969707 single base substitution C G downstream_gene_variant BRCA-UK 17 79969707 79969707 single base substitution C G intron_variant BRCA-UK 17 79969707 79969707 single base substitution C G upstream_gene_variant BRCA-UK 17 79971537 79971537 single base substitution A T downstream_gene_variant BRCA-UK 17 79971537 79971537 single base substitution A T exon_variant BRCA-UK 17 79971537 79971537 single base substitution A T intron_variant BRCA-UK 17 79971537 79971537 single base substitution A T upstream_gene_variant BRCA-UK 17 79972966 79972966 single base substitution C G downstream_gene_variant BRCA-UK 17 79972966 79972966 single base substitution C G exon_variant BRCA-UK 17 79972966 79972966 single base substitution C G intron_variant BRCA-UK 17 79972966 79972966 single base substitution C G missense_variant R457G 1369C>G BRCA-UK 17 79972966 79972966 single base substitution C G upstream_gene_variant BRCA-US 17 79941456 79941456 single base substitution C A 3_prime_UTR_variant BRCA-US 17 79941456 79941456 single base substitution C A 5_prime_UTR_variant BRCA-US 17 79941456 79941456 single base substitution C A exon_variant BRCA-US 17 79941456 79941456 single base substitution C A missense_variant S42Y 125C>A BRCA-US 17 79941456 79941456 single base substitution C A missense_variant S59Y 176C>A BRCA-US 17 79941456 79941456 single base substitution C A missense_variant S62Y 185C>A BRCA-US 17 79952733 79952733 single base substitution C T 3_prime_UTR_variant BRCA-US 17 79952733 79952733 single base substitution C T exon_variant BRCA-US 17 79952733 79952733 single base substitution C T intron_variant BRCA-US 17 79952733 79952733 single base substitution C T synonymous_variant V117V 351C>T BRCA-US 17 79952733 79952733 single base substitution C T synonymous_variant V134V 402C>T BRCA-US 17 79952733 79952733 single base substitution C T synonymous_variant V137V 411C>T BRCA-US 17 79952733 79952733 single base substitution C T synonymous_variant V60V 180C>T BRCA-US 17 79952733 79952733 single base substitution C T upstream_gene_variant BRCA-US 17 79966993 79966993 single base substitution G A downstream_gene_variant BRCA-US 17 79966993 79966993 single base substitution G A exon_variant BRCA-US 17 79966993 79966993 single base substitution G A synonymous_variant A167A 501G>A BRCA-US 17 79966993 79966993 single base substitution G A synonymous_variant A261A 783G>A BRCA-US 17 79966993 79966993 single base substitution G A synonymous_variant A338A 1014G>A BRCA-US 17 79966993 79966993 single base substitution G A upstream_gene_variant BRCA-US 17 79967367 79967367 single base substitution G A 3_prime_UTR_variant BRCA-US 17 79967367 79967367 single base substitution G A downstream_gene_variant BRCA-US 17 79967367 79967367 single base substitution G A exon_variant BRCA-US 17 79967367 79967367 single base substitution G A missense_variant R194H 581G>A BRCA-US 17 79967367 79967367 single base substitution G A missense_variant R288H 863G>A BRCA-US 17 79967367 79967367 single base substitution G A missense_variant R365H 1094G>A BRCA-US 17 79967367 79967367 single base substitution G A upstream_gene_variant BRCA-US 17 79973183 79973183 single base substitution G A downstream_gene_variant BRCA-US 17 79973183 79973183 single base substitution G A exon_variant BRCA-US 17 79973183 79973183 single base substitution G A intron_variant BRCA-US 17 79973183 79973183 single base substitution G A missense_variant G529D 1586G>A BRCA-US 17 79973183 79973183 single base substitution G A upstream_gene_variant BTCA-JP 17 79941342 79941342 single base substitution T G intron_variant BTCA-JP 17 79943116 79943116 single base substitution A G downstream_gene_variant BTCA-JP 17 79943116 79943116 single base substitution A G intron_variant BTCA-JP 17 79967978 79967978 single base substitution A T downstream_gene_variant BTCA-JP 17 79967978 79967978 single base substitution A T intron_variant BTCA-JP 17 79967978 79967978 single base substitution A T upstream_gene_variant BTCA-JP 17 79968604 79968604 single base substitution G T downstream_gene_variant BTCA-JP 17 79968604 79968604 single base substitution G T intron_variant BTCA-JP 17 79968604 79968604 single base substitution G T upstream_gene_variant BTCA-JP 17 79973230 79973230 single base substitution C T downstream_gene_variant BTCA-JP 17 79973230 79973230 single base substitution C T exon_variant BTCA-JP 17 79973230 79973230 single base substitution C T intron_variant BTCA-JP 17 79973230 79973230 single base substitution C T missense_variant R545W 1633C>T BTCA-JP 17 79973230 79973230 single base substitution C T splice_region_variant BTCA-JP 17 79973230 79973230 single base substitution C T upstream_gene_variant BTCA-JP 17 79977824 79977824 deletion of <=200bp C - downstream_gene_variant CESC-US 17 79954696 79954696 single base substitution C T 3_prime_UTR_variant CESC-US 17 79954696 79954696 single base substitution C T downstream_gene_variant CESC-US 17 79954696 79954696 single base substitution C T exon_variant CESC-US 17 79954696 79954696 single base substitution C T intron_variant CESC-US 17 79954696 79954696 single base substitution C T missense_variant P132S 394C>T CESC-US 17 79954696 79954696 single base substitution C T missense_variant P226S 676C>T CESC-US 17 79954696 79954696 single base substitution C T missense_variant P300S 898C>T CESC-US 17 79954696 79954696 single base substitution C T missense_variant P303S 907C>T CESC-US 17 79973017 79973017 single base substitution G C downstream_gene_variant CESC-US 17 79973017 79973017 single base substitution G C exon_variant CESC-US 17 79973017 79973017 single base substitution G C intron_variant CESC-US 17 79973017 79973017 single base substitution G C missense_variant E474Q 1420G>C CESC-US 17 79973017 79973017 single base substitution G C upstream_gene_variant CESC-US 17 79973128 79973128 single base substitution C T downstream_gene_variant CESC-US 17 79973128 79973128 single base substitution C T exon_variant CESC-US 17 79973128 79973128 single base substitution C T intron_variant CESC-US 17 79973128 79973128 single base substitution C T missense_variant P511S 1531C>T CESC-US 17 79973128 79973128 single base substitution C T upstream_gene_variant COAD-US 17 79941511 79941511 single base substitution C T 3_prime_UTR_variant COAD-US 17 79941511 79941511 single base substitution C T downstream_gene_variant COAD-US 17 79941511 79941511 single base substitution C T exon_variant COAD-US 17 79941511 79941511 single base substitution C T synonymous_variant P3P 9C>T COAD-US 17 79941511 79941511 single base substitution C T synonymous_variant P60P 180C>T COAD-US 17 79941511 79941511 single base substitution C T synonymous_variant P77P 231C>T COAD-US 17 79941511 79941511 single base substitution C T synonymous_variant P80P 240C>T COAD-US 17 79954349 79954349 single base substitution C T 3_prime_UTR_variant COAD-US 17 79954349 79954349 single base substitution C T downstream_gene_variant COAD-US 17 79954349 79954349 single base substitution C T exon_variant COAD-US 17 79954349 79954349 single base substitution C T intron_variant COAD-US 17 79954349 79954349 single base substitution C T missense_variant S110L 329C>T COAD-US 17 79954349 79954349 single base substitution C T missense_variant S16L 47C>T COAD-US 17 79954349 79954349 single base substitution C T missense_variant S184L 551C>T COAD-US 17 79954349 79954349 single base substitution C T missense_variant S187L 560C>T COAD-US 17 79974365 79974365 single base substitution C T exon_variant COAD-US 17 79974365 79974365 single base substitution C T missense_variant P285L 854C>T COAD-US 17 79974365 79974365 single base substitution C T missense_variant P404L 1211C>T COAD-US 17 79974365 79974365 single base substitution C T missense_variant P456L 1367C>T COAD-US 17 79974365 79974365 single base substitution C T missense_variant P550L 1649C>T COAD-US 17 79974365 79974365 single base substitution C T missense_variant P63L 188C>T COAD-US 17 79974909 79974909 insertion of <=200bp - C 3_prime_UTR_variant COAD-US 17 79974909 79974909 insertion of <=200bp - C exon_variant COAD-US 17 79974909 79974909 insertion of <=200bp - C frameshift_variant V130A? COAD-US 17 79974909 79974909 insertion of <=200bp - C frameshift_variant V352A? COAD-US 17 79974909 79974909 insertion of <=200bp - C frameshift_variant V471A? COAD-US 17 79974909 79974909 insertion of <=200bp - C frameshift_variant V523A? COAD-US 17 79974909 79974909 insertion of <=200bp - C frameshift_variant V617A? COAD-US 17 79977240 79977240 single base substitution C T downstream_gene_variant COCA-CN 17 79935411 79935411 single base substitution A G intron_variant COCA-CN 17 79935411 79935411 single base substitution A G upstream_gene_variant COCA-CN 17 79935414 79935414 single base substitution A G intron_variant COCA-CN 17 79935414 79935414 single base substitution A G upstream_gene_variant COCA-CN 17 79935636 79935636 single base substitution C G intron_variant COCA-CN 17 79935636 79935636 single base substitution C G upstream_gene_variant COCA-CN 17 79941349 79941349 single base substitution T C intron_variant COCA-CN 17 79941352 79941352 single base substitution G A intron_variant COCA-CN 17 79952452 79952452 single base substitution C T intron_variant COCA-CN 17 79952452 79952452 single base substitution C T upstream_gene_variant COCA-CN 17 79954494 79954494 single base substitution G A 3_prime_UTR_variant COCA-CN 17 79954494 79954494 single base substitution G A downstream_gene_variant COCA-CN 17 79954494 79954494 single base substitution G A exon_variant COCA-CN 17 79954494 79954494 single base substitution G A intron_variant COCA-CN 17 79954494 79954494 single base substitution G A synonymous_variant R158R 474G>A COCA-CN 17 79954494 79954494 single base substitution G A synonymous_variant R232R 696G>A COCA-CN 17 79954494 79954494 single base substitution G A synonymous_variant R235R 705G>A COCA-CN 17 79954494 79954494 single base substitution G A synonymous_variant R64R 192G>A COCA-CN 17 79954599 79954599 single base substitution G A 3_prime_UTR_variant COCA-CN 17 79954599 79954599 single base substitution G A downstream_gene_variant COCA-CN 17 79954599 79954599 single base substitution G A exon_variant COCA-CN 17 79954599 79954599 single base substitution G A intron_variant COCA-CN 17 79954599 79954599 single base substitution G A synonymous_variant P193P 579G>A COCA-CN 17 79954599 79954599 single base substitution G A synonymous_variant P267P 801G>A COCA-CN 17 79954599 79954599 single base substitution G A synonymous_variant P270P 810G>A COCA-CN 17 79954599 79954599 single base substitution G A synonymous_variant P99P 297G>A COCA-CN 17 79967431 79967431 single base substitution G T 3_prime_UTR_variant COCA-CN 17 79967431 79967431 single base substitution G T downstream_gene_variant COCA-CN 17 79967431 79967431 single base substitution G T exon_variant COCA-CN 17 79967431 79967431 single base substitution G T missense_variant E215D 645G>T COCA-CN 17 79967431 79967431 single base substitution G T missense_variant E309D 927G>T COCA-CN 17 79967431 79967431 single base substitution G T missense_variant E386D 1158G>T COCA-CN 17 79967431 79967431 single base substitution G T upstream_gene_variant COCA-CN 17 79967486 79967486 single base substitution G C downstream_gene_variant COCA-CN 17 79967486 79967486 single base substitution G C intron_variant COCA-CN 17 79967486 79967486 single base substitution G C upstream_gene_variant COCA-CN 17 79967872 79967872 single base substitution G A downstream_gene_variant COCA-CN 17 79967872 79967872 single base substitution G A exon_variant COCA-CN 17 79967872 79967872 single base substitution G A intron_variant COCA-CN 17 79967872 79967872 single base substitution G A upstream_gene_variant COCA-CN 17 79977813 79977813 single base substitution C G downstream_gene_variant EOPC-DE 17 79963966 79963966 single base substitution T C exon_variant EOPC-DE 17 79963966 79963966 single base substitution T C intron_variant EOPC-DE 17 79963966 79963966 single base substitution T C upstream_gene_variant ESAD-UK 17 79931346 79931346 single base substitution G T upstream_gene_variant ESAD-UK 17 79932575 79932575 single base substitution T A upstream_gene_variant ESAD-UK 17 79933108 79933108 single base substitution G A upstream_gene_variant ESAD-UK 17 79935107 79935107 single base substitution G A intron_variant ESAD-UK 17 79935107 79935107 single base substitution G A upstream_gene_variant ESAD-UK 17 79937350 79937350 single base substitution C T intron_variant ESAD-UK 17 79940374 79940374 single base substitution G A intron_variant ESAD-UK 17 79940682 79940682 single base substitution T C intron_variant ESAD-UK 17 79943351 79943351 single base substitution T C downstream_gene_variant ESAD-UK 17 79943351 79943351 single base substitution T C intron_variant ESAD-UK 17 79944888 79944888 single base substitution C T downstream_gene_variant ESAD-UK 17 79944888 79944888 single base substitution C T intron_variant ESAD-UK 17 79946012 79946012 single base substitution G A downstream_gene_variant ESAD-UK 17 79946012 79946012 single base substitution G A intron_variant ESAD-UK 17 79949062 79949062 single base substitution G C intron_variant ESAD-UK 17 79949062 79949062 single base substitution G C upstream_gene_variant ESAD-UK 17 79949852 79949852 single base substitution C G intron_variant ESAD-UK 17 79949852 79949852 single base substitution C G upstream_gene_variant ESAD-UK 17 79951072 79951072 deletion of <=200bp C - intron_variant ESAD-UK 17 79951072 79951072 deletion of <=200bp C - upstream_gene_variant ESAD-UK 17 79952773 79952773 single base substitution C T intron_variant ESAD-UK 17 79952773 79952773 single base substitution C T missense_variant L151F 451C>T ESAD-UK 17 79952773 79952773 single base substitution C T upstream_gene_variant ESAD-UK 17 79952923 79952923 single base substitution G A 3_prime_UTR_variant ESAD-UK 17 79952923 79952923 single base substitution G A intron_variant ESAD-UK 17 79952923 79952923 single base substitution G A synonymous_variant P154P 462G>A ESAD-UK 17 79952923 79952923 single base substitution G A upstream_gene_variant ESAD-UK 17 79955212 79955212 single base substitution G A downstream_gene_variant ESAD-UK 17 79955212 79955212 single base substitution G A intron_variant ESAD-UK 17 79958563 79958563 single base substitution C T downstream_gene_variant ESAD-UK 17 79958563 79958563 single base substitution C T intron_variant ESAD-UK 17 79958563 79958563 single base substitution C T upstream_gene_variant ESAD-UK 17 79960132 79960132 single base substitution T C intron_variant ESAD-UK 17 79960132 79960132 single base substitution T C upstream_gene_variant ESAD-UK 17 79960614 79960614 single base substitution A G intron_variant ESAD-UK 17 79960614 79960614 single base substitution A G upstream_gene_variant ESAD-UK 17 79962381 79962381 single base substitution C T exon_variant ESAD-UK 17 79962381 79962381 single base substitution C T intron_variant ESAD-UK 17 79962381 79962381 single base substitution C T upstream_gene_variant ESAD-UK 17 79962403 79962403 single base substitution C T exon_variant ESAD-UK 17 79962403 79962403 single base substitution C T intron_variant ESAD-UK 17 79962403 79962403 single base substitution C T upstream_gene_variant ESAD-UK 17 79965369 79965369 single base substitution C T exon_variant ESAD-UK 17 79965369 79965369 single base substitution C T intron_variant ESAD-UK 17 79965369 79965369 single base substitution C T upstream_gene_variant ESAD-UK 17 79965424 79965424 single base substitution G A exon_variant ESAD-UK 17 79965424 79965424 single base substitution G A intron_variant ESAD-UK 17 79965424 79965424 single base substitution G A upstream_gene_variant ESAD-UK 17 79965503 79965503 single base substitution C T exon_variant ESAD-UK 17 79965503 79965503 single base substitution C T intron_variant ESAD-UK 17 79965503 79965503 single base substitution C T upstream_gene_variant ESAD-UK 17 79965533 79965535 deletion of <=200bp CTC - exon_variant ESAD-UK 17 79965533 79965535 deletion of <=200bp CTC - intron_variant ESAD-UK 17 79965533 79965535 deletion of <=200bp CTC - upstream_gene_variant ESAD-UK 17 79970430 79970430 single base substitution C T downstream_gene_variant ESAD-UK 17 79970430 79970430 single base substitution C T intron_variant ESAD-UK 17 79970430 79970430 single base substitution C T upstream_gene_variant ESAD-UK 17 79975434 79975434 single base substitution G T downstream_gene_variant ESAD-UK 17 79977648 79977648 single base substitution C T downstream_gene_variant ESAD-UK 17 79978768 79978768 single base substitution C T downstream_gene_variant ESCA-CN 17 79967515 79967515 insertion of <=200bp - CG downstream_gene_variant ESCA-CN 17 79967515 79967515 insertion of <=200bp - CG intron_variant ESCA-CN 17 79967515 79967515 insertion of <=200bp - CG upstream_gene_variant ESCA-CN 17 79967516 79967516 insertion of <=200bp - A downstream_gene_variant ESCA-CN 17 79967516 79967516 insertion of <=200bp - A intron_variant ESCA-CN 17 79967516 79967516 insertion of <=200bp - A upstream_gene_variant ESCA-CN 17 79967542 79967542 single base substitution C G downstream_gene_variant ESCA-CN 17 79967542 79967542 single base substitution C G intron_variant ESCA-CN 17 79967542 79967542 single base substitution C G upstream_gene_variant ESCA-CN 17 79967563 79967563 single base substitution G A downstream_gene_variant ESCA-CN 17 79967563 79967563 single base substitution G A intron_variant ESCA-CN 17 79967563 79967563 single base substitution G A upstream_gene_variant GBM-US 17 79953896 79953896 single base substitution C T 3_prime_UTR_variant GBM-US 17 79953896 79953896 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant GBM-US 17 79953896 79953896 single base substitution C T downstream_gene_variant GBM-US 17 79953896 79953896 single base substitution C T exon_variant GBM-US 17 79953896 79953896 single base substitution C T intron_variant GBM-US 17 79953896 79953896 single base substitution C T missense_variant T151M 452C>T GBM-US 17 79953896 79953896 single base substitution C T missense_variant T154M 461C>T GBM-US 17 79953896 79953896 single base substitution C T missense_variant T77M 230C>T KIRC-US 17 79941541 79941541 single base substitution C T 3_prime_UTR_variant KIRC-US 17 79941541 79941541 single base substitution C T downstream_gene_variant KIRC-US 17 79941541 79941541 single base substitution C T exon_variant KIRC-US 17 79941541 79941541 single base substitution C T synonymous_variant N13N 39C>T KIRC-US 17 79941541 79941541 single base substitution C T synonymous_variant N70N 210C>T KIRC-US 17 79941541 79941541 single base substitution C T synonymous_variant N87N 261C>T KIRC-US 17 79941541 79941541 single base substitution C T synonymous_variant N90N 270C>T KIRC-US 17 79954308 79954308 single base substitution G T 3_prime_UTR_variant KIRC-US 17 79954308 79954308 single base substitution G T downstream_gene_variant KIRC-US 17 79954308 79954308 single base substitution G T exon_variant KIRC-US 17 79954308 79954308 single base substitution G T intron_variant KIRC-US 17 79954308 79954308 single base substitution G T missense_variant K170N 510G>T KIRC-US 17 79954308 79954308 single base substitution G T missense_variant K173N 519G>T KIRC-US 17 79954308 79954308 single base substitution G T missense_variant K2N 6G>T KIRC-US 17 79954308 79954308 single base substitution G T missense_variant K96N 288G>T LAML-KR 17 79941353 79941353 single base substitution A G intron_variant LAML-KR 17 79941356 79941356 single base substitution G T intron_variant LAML-KR 17 79946102 79946102 single base substitution C T downstream_gene_variant LAML-KR 17 79946102 79946102 single base substitution C T intron_variant LAML-KR 17 79946107 79946107 single base substitution T C downstream_gene_variant LAML-KR 17 79946107 79946107 single base substitution T C intron_variant LAML-KR 17 79948409 79948409 single base substitution T C intron_variant LAML-KR 17 79948409 79948409 single base substitution T C upstream_gene_variant LAML-KR 17 79952784 79952784 single base substitution C A intron_variant LAML-KR 17 79952784 79952784 single base substitution C A synonymous_variant S154S 462C>A LAML-KR 17 79952784 79952784 single base substitution C A upstream_gene_variant LAML-KR 17 79963978 79963978 single base substitution C T exon_variant LAML-KR 17 79963978 79963978 single base substitution C T intron_variant LAML-KR 17 79963978 79963978 single base substitution C T upstream_gene_variant LGG-US 17 79943447 79943447 single base substitution C G 3_prime_UTR_variant LGG-US 17 79943447 79943447 single base substitution C G downstream_gene_variant LGG-US 17 79943447 79943447 single base substitution C G exon_variant LGG-US 17 79943447 79943447 single base substitution C G missense_variant T110S 329C>G LGG-US 17 79943447 79943447 single base substitution C G missense_variant T113S 338C>G LGG-US 17 79943447 79943447 single base substitution C G missense_variant T36S 107C>G LGG-US 17 79943447 79943447 single base substitution C G missense_variant T93S 278C>G LICA-FR 17 79934563 79934563 single base substitution A G upstream_gene_variant LICA-FR 17 79947964 79947964 single base substitution T G intron_variant LICA-FR 17 79951727 79951727 single base substitution G A intron_variant LICA-FR 17 79951727 79951727 single base substitution G A upstream_gene_variant LICA-FR 17 79953921 79953921 single base substitution C T 3_prime_UTR_variant LICA-FR 17 79953921 79953921 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant LICA-FR 17 79953921 79953921 single base substitution C T downstream_gene_variant LICA-FR 17 79953921 79953921 single base substitution C T exon_variant LICA-FR 17 79953921 79953921 single base substitution C T intron_variant LICA-FR 17 79953921 79953921 single base substitution C T synonymous_variant T159T 477C>T LICA-FR 17 79953921 79953921 single base substitution C T synonymous_variant T162T 486C>T LICA-FR 17 79953921 79953921 single base substitution C T synonymous_variant T85T 255C>T LICA-FR 17 79954390 79954390 single base substitution C T 3_prime_UTR_variant LICA-FR 17 79954390 79954390 single base substitution C T downstream_gene_variant LICA-FR 17 79954390 79954390 single base substitution C T exon_variant LICA-FR 17 79954390 79954390 single base substitution C T intron_variant LICA-FR 17 79954390 79954390 single base substitution C T missense_variant P124S 370C>T LICA-FR 17 79954390 79954390 single base substitution C T missense_variant P198S 592C>T LICA-FR 17 79954390 79954390 single base substitution C T missense_variant P201S 601C>T LICA-FR 17 79954390 79954390 single base substitution C T missense_variant P30S 88C>T LICA-FR 17 79954434 79954434 single base substitution G A 3_prime_UTR_variant LICA-FR 17 79954434 79954434 single base substitution G A downstream_gene_variant LICA-FR 17 79954434 79954434 single base substitution G A exon_variant LICA-FR 17 79954434 79954434 single base substitution G A intron_variant LICA-FR 17 79954434 79954434 single base substitution G A synonymous_variant P138P 414G>A LICA-FR 17 79954434 79954434 single base substitution G A synonymous_variant P212P 636G>A LICA-FR 17 79954434 79954434 single base substitution G A synonymous_variant P215P 645G>A LICA-FR 17 79954434 79954434 single base substitution G A synonymous_variant P44P 132G>A LICA-FR 17 79955174 79955174 single base substitution T G downstream_gene_variant LICA-FR 17 79955174 79955174 single base substitution T G intron_variant LICA-FR 17 79979767 79979767 single base substitution C T downstream_gene_variant LIHC-US 17 79974909 79974909 single base substitution T A 3_prime_UTR_variant LIHC-US 17 79974909 79974909 single base substitution T A exon_variant LIHC-US 17 79974909 79974909 single base substitution T A missense_variant V130D 389T>A LIHC-US 17 79974909 79974909 single base substitution T A missense_variant V352D 1055T>A LIHC-US 17 79974909 79974909 single base substitution T A missense_variant V471D 1412T>A LIHC-US 17 79974909 79974909 single base substitution T A missense_variant V523D 1568T>A LIHC-US 17 79974909 79974909 single base substitution T A missense_variant V617D 1850T>A LINC-JP 17 79930673 79930673 single base substitution A T upstream_gene_variant LINC-JP 17 79941605 79941605 single base substitution G A downstream_gene_variant LINC-JP 17 79941605 79941605 single base substitution G A intron_variant LINC-JP 17 79942620 79942620 single base substitution C T downstream_gene_variant LINC-JP 17 79942620 79942620 single base substitution C T intron_variant LINC-JP 17 79953802 79953802 single base substitution G C downstream_gene_variant LINC-JP 17 79953802 79953802 single base substitution G C intron_variant LINC-JP 17 79953807 79953807 single base substitution G A downstream_gene_variant LINC-JP 17 79953807 79953807 single base substitution G A intron_variant LINC-JP 17 79958519 79958522 deletion of <=200bp AAAG - downstream_gene_variant LINC-JP 17 79958519 79958522 deletion of <=200bp AAAG - intron_variant LINC-JP 17 79958519 79958522 deletion of <=200bp AAAG - upstream_gene_variant LINC-JP 17 79961800 79961800 single base substitution G T intron_variant LINC-JP 17 79961800 79961800 single base substitution G T upstream_gene_variant LINC-JP 17 79966930 79966930 single base substitution C G downstream_gene_variant LINC-JP 17 79966930 79966930 single base substitution C G exon_variant LINC-JP 17 79966930 79966930 single base substitution C G synonymous_variant P146P 438C>G LINC-JP 17 79966930 79966930 single base substitution C G synonymous_variant P240P 720C>G LINC-JP 17 79966930 79966930 single base substitution C G synonymous_variant P317P 951C>G LINC-JP 17 79966930 79966930 single base substitution C G upstream_gene_variant LINC-JP 17 79967506 79967506 single base substitution G A downstream_gene_variant LINC-JP 17 79967506 79967506 single base substitution G A intron_variant LINC-JP 17 79967506 79967506 single base substitution G A upstream_gene_variant LINC-JP 17 79978558 79978558 single base substitution G A downstream_gene_variant LIRI-JP 17 79938728 79938728 single base substitution A G intron_variant LIRI-JP 17 79940392 79940392 single base substitution A G intron_variant LIRI-JP 17 79940986 79940986 single base substitution G A intron_variant LIRI-JP 17 79947798 79947798 single base substitution G A intron_variant LIRI-JP 17 79950313 79950313 single base substitution G T intron_variant LIRI-JP 17 79950313 79950313 single base substitution G T upstream_gene_variant LIRI-JP 17 79956061 79956061 single base substitution G A downstream_gene_variant LIRI-JP 17 79956061 79956061 single base substitution G A intron_variant LIRI-JP 17 79956725 79956725 single base substitution T G downstream_gene_variant LIRI-JP 17 79956725 79956725 single base substitution T G intron_variant LIRI-JP 17 79957611 79957611 single base substitution G A downstream_gene_variant LIRI-JP 17 79957611 79957611 single base substitution G A intron_variant LIRI-JP 17 79957611 79957611 single base substitution G A upstream_gene_variant LIRI-JP 17 79961160 79961160 single base substitution A C intron_variant LIRI-JP 17 79961160 79961160 single base substitution A C upstream_gene_variant LIRI-JP 17 79963230 79963230 single base substitution C T exon_variant LIRI-JP 17 79963230 79963230 single base substitution C T intron_variant LIRI-JP 17 79963230 79963230 single base substitution C T upstream_gene_variant LIRI-JP 17 79964241 79964241 single base substitution G A exon_variant LIRI-JP 17 79964241 79964241 single base substitution G A intron_variant LIRI-JP 17 79964241 79964241 single base substitution G A upstream_gene_variant LIRI-JP 17 79969887 79969887 single base substitution C T downstream_gene_variant LIRI-JP 17 79969887 79969887 single base substitution C T intron_variant LIRI-JP 17 79969887 79969887 single base substitution C T upstream_gene_variant LIRI-JP 17 79969940 79969940 single base substitution C A downstream_gene_variant LIRI-JP 17 79969940 79969940 single base substitution C A intron_variant LIRI-JP 17 79969940 79969940 single base substitution C A upstream_gene_variant LIRI-JP 17 79970271 79970271 single base substitution T C downstream_gene_variant LIRI-JP 17 79970271 79970271 single base substitution T C intron_variant LIRI-JP 17 79970271 79970271 single base substitution T C upstream_gene_variant LIRI-JP 17 79976526 79976526 single base substitution A G downstream_gene_variant LIRI-JP 17 79977212 79977212 single base substitution A C downstream_gene_variant LIRI-JP 17 79978703 79978703 single base substitution G A downstream_gene_variant LUSC-KR 17 79932679 79932679 single base substitution G T upstream_gene_variant LUSC-KR 17 79932842 79932842 single base substitution G C upstream_gene_variant LUSC-KR 17 79935390 79935390 single base substitution G T intron_variant LUSC-KR 17 79935390 79935390 single base substitution G T upstream_gene_variant LUSC-KR 17 79945289 79945289 single base substitution A T downstream_gene_variant LUSC-KR 17 79945289 79945289 single base substitution A T intron_variant LUSC-KR 17 79946330 79946330 single base substitution C A downstream_gene_variant LUSC-KR 17 79946330 79946330 single base substitution C A intron_variant LUSC-KR 17 79952486 79952486 single base substitution G T intron_variant LUSC-KR 17 79952486 79952486 single base substitution G T upstream_gene_variant LUSC-KR 17 79961747 79961747 single base substitution G C intron_variant LUSC-KR 17 79961747 79961747 single base substitution G C upstream_gene_variant LUSC-KR 17 79966098 79966098 single base substitution G T exon_variant LUSC-KR 17 79966098 79966098 single base substitution G T intron_variant LUSC-KR 17 79966098 79966098 single base substitution G T upstream_gene_variant LUSC-KR 17 79967506 79967506 single base substitution G A downstream_gene_variant LUSC-KR 17 79967506 79967506 single base substitution G A intron_variant LUSC-KR 17 79967506 79967506 single base substitution G A upstream_gene_variant LUSC-KR 17 79967507 79967507 single base substitution T C downstream_gene_variant LUSC-KR 17 79967507 79967507 single base substitution T C intron_variant LUSC-KR 17 79967507 79967507 single base substitution T C upstream_gene_variant LUSC-KR 17 79967511 79967511 single base substitution C T downstream_gene_variant LUSC-KR 17 79967511 79967511 single base substitution C T intron_variant LUSC-KR 17 79967511 79967511 single base substitution C T upstream_gene_variant LUSC-KR 17 79968540 79968540 single base substitution G T downstream_gene_variant LUSC-KR 17 79968540 79968540 single base substitution G T intron_variant LUSC-KR 17 79968540 79968540 single base substitution G T upstream_gene_variant LUSC-KR 17 79975405 79975405 single base substitution G C downstream_gene_variant LUSC-KR 17 79976960 79976960 single base substitution G C downstream_gene_variant LUSC-KR 17 79977214 79977214 single base substitution C A downstream_gene_variant LUSC-KR 17 79977813 79977813 single base substitution C G downstream_gene_variant LUSC-US 17 79974718 79974718 single base substitution C T exon_variant LUSC-US 17 79974718 79974718 single base substitution C T missense_variant P312L 935C>T LUSC-US 17 79974718 79974718 single base substitution C T missense_variant P431L 1292C>T LUSC-US 17 79974718 79974718 single base substitution C T missense_variant P483L 1448C>T LUSC-US 17 79974718 79974718 single base substitution C T missense_variant P577L 1730C>T LUSC-US 17 79974718 79974718 single base substitution C T missense_variant P90L 269C>T LUSC-US 17 79974979 79974979 single base substitution G A 3_prime_UTR_variant LUSC-US 17 79974979 79974979 single base substitution G A downstream_gene_variant LUSC-US 17 79974979 79974979 single base substitution G A exon_variant LUSC-US 17 79974979 79974979 single base substitution G A intron_variant LUSC-US 17 79974979 79974979 single base substitution G A synonymous_variant L494L 1482G>A LUSC-US 17 79974979 79974979 single base substitution G A synonymous_variant L546L 1638G>A LUSC-US 17 79974979 79974979 single base substitution G A synonymous_variant L640L 1920G>A MALY-DE 17 79930091 79930091 single base substitution C T upstream_gene_variant MALY-DE 17 79939222 79939222 insertion of <=200bp - G intron_variant MALY-DE 17 79939855 79939855 insertion of <=200bp - T intron_variant MALY-DE 17 79941335 79941335 single base substitution C T intron_variant MALY-DE 17 79941339 79941339 single base substitution G A intron_variant MALY-DE 17 79941342 79941342 single base substitution T G intron_variant MALY-DE 17 79941349 79941349 single base substitution T C intron_variant MALY-DE 17 79941353 79941353 single base substitution A G intron_variant MALY-DE 17 79941378 79941378 single base substitution A G intron_variant MALY-DE 17 79951429 79951429 single base substitution G A intron_variant MALY-DE 17 79951429 79951429 single base substitution G A upstream_gene_variant MALY-DE 17 79952488 79952488 single base substitution G A intron_variant MALY-DE 17 79952488 79952488 single base substitution G A upstream_gene_variant MALY-DE 17 79954959 79954959 single base substitution T C downstream_gene_variant MALY-DE 17 79954959 79954959 single base substitution T C intron_variant MALY-DE 17 79954980 79954980 single base substitution C G downstream_gene_variant MALY-DE 17 79954980 79954980 single base substitution C G intron_variant MALY-DE 17 79954981 79954981 single base substitution C G downstream_gene_variant MALY-DE 17 79954981 79954981 single base substitution C G intron_variant MALY-DE 17 79958126 79958126 single base substitution G A downstream_gene_variant MALY-DE 17 79958126 79958126 single base substitution G A intron_variant MALY-DE 17 79958126 79958126 single base substitution G A upstream_gene_variant MALY-DE 17 79964641 79964641 single base substitution C A exon_variant MALY-DE 17 79964641 79964641 single base substitution C A intron_variant MALY-DE 17 79964641 79964641 single base substitution C A upstream_gene_variant MALY-DE 17 79967599 79967599 deletion of <=200bp G - downstream_gene_variant MALY-DE 17 79967599 79967599 deletion of <=200bp G - intron_variant MALY-DE 17 79967599 79967599 deletion of <=200bp G - upstream_gene_variant MALY-DE 17 79972487 79972487 single base substitution C G downstream_gene_variant MALY-DE 17 79972487 79972487 single base substitution C G exon_variant MALY-DE 17 79972487 79972487 single base substitution C G intron_variant MALY-DE 17 79972487 79972487 single base substitution C G upstream_gene_variant MALY-DE 17 79977824 79977824 deletion of <=200bp C - downstream_gene_variant MELA-AU 17 79930217 79930218 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 79930655 79930655 single base substitution G A upstream_gene_variant MELA-AU 17 79930897 79930897 single base substitution C T upstream_gene_variant MELA-AU 17 79930902 79930902 single base substitution G A upstream_gene_variant MELA-AU 17 79931113 79931113 single base substitution C T upstream_gene_variant MELA-AU 17 79931533 79931533 single base substitution C T upstream_gene_variant MELA-AU 17 79931627 79931627 single base substitution C T upstream_gene_variant MELA-AU 17 79931847 79931847 single base substitution C T upstream_gene_variant MELA-AU 17 79932104 79932104 single base substitution G A upstream_gene_variant MELA-AU 17 79932658 79932658 single base substitution G A upstream_gene_variant MELA-AU 17 79932660 79932660 single base substitution G T upstream_gene_variant MELA-AU 17 79932662 79932662 single base substitution G A upstream_gene_variant MELA-AU 17 79932733 79932733 insertion of <=200bp - A upstream_gene_variant MELA-AU 17 79932884 79932884 single base substitution G A upstream_gene_variant MELA-AU 17 79932891 79932891 single base substitution G A upstream_gene_variant MELA-AU 17 79934418 79934418 single base substitution C T upstream_gene_variant MELA-AU 17 79935195 79935195 single base substitution G A intron_variant MELA-AU 17 79935195 79935195 single base substitution G A upstream_gene_variant MELA-AU 17 79935309 79935309 single base substitution C T intron_variant MELA-AU 17 79935309 79935309 single base substitution C T upstream_gene_variant MELA-AU 17 79935332 79935332 single base substitution C T intron_variant MELA-AU 17 79935332 79935332 single base substitution C T upstream_gene_variant MELA-AU 17 79935392 79935392 single base substitution G A intron_variant MELA-AU 17 79935392 79935392 single base substitution G A upstream_gene_variant MELA-AU 17 79935413 79935413 single base substitution G A intron_variant MELA-AU 17 79935413 79935413 single base substitution G A upstream_gene_variant MELA-AU 17 79935418 79935418 single base substitution G A intron_variant MELA-AU 17 79935418 79935418 single base substitution G A upstream_gene_variant MELA-AU 17 79935419 79935419 single base substitution G A intron_variant MELA-AU 17 79935419 79935419 single base substitution G A upstream_gene_variant MELA-AU 17 79935497 79935497 single base substitution C T 5_prime_UTR_variant MELA-AU 17 79935497 79935497 single base substitution C T intron_variant MELA-AU 17 79935497 79935497 single base substitution C T upstream_gene_variant MELA-AU 17 79935647 79935647 single base substitution G A intron_variant MELA-AU 17 79935647 79935647 single base substitution G A upstream_gene_variant MELA-AU 17 79937462 79937462 single base substitution C T intron_variant MELA-AU 17 79938258 79938258 insertion of <=200bp - GGA intron_variant MELA-AU 17 79938675 79938675 single base substitution C T intron_variant MELA-AU 17 79938686 79938686 single base substitution C T intron_variant MELA-AU 17 79938924 79938924 single base substitution A G intron_variant MELA-AU 17 79939079 79939079 single base substitution C T intron_variant MELA-AU 17 79939951 79939951 single base substitution C T intron_variant MELA-AU 17 79940307 79940307 single base substitution G A intron_variant MELA-AU 17 79940602 79940602 single base substitution C T intron_variant MELA-AU 17 79940687 79940687 single base substitution C T intron_variant MELA-AU 17 79940692 79940692 single base substitution C T intron_variant MELA-AU 17 79940918 79940918 single base substitution C T intron_variant MELA-AU 17 79940919 79940919 single base substitution C T intron_variant MELA-AU 17 79941206 79941206 single base substitution C T intron_variant MELA-AU 17 79941259 79941259 single base substitution G C intron_variant MELA-AU 17 79941287 79941287 single base substitution C T intron_variant MELA-AU 17 79941294 79941294 single base substitution T C intron_variant MELA-AU 17 79941507 79941507 single base substitution T C 3_prime_UTR_variant MELA-AU 17 79941507 79941507 single base substitution T C downstream_gene_variant MELA-AU 17 79941507 79941507 single base substitution T C exon_variant MELA-AU 17 79941507 79941507 single base substitution T C missense_variant V2A 5T>C MELA-AU 17 79941507 79941507 single base substitution T C missense_variant V59A 176T>C MELA-AU 17 79941507 79941507 single base substitution T C missense_variant V76A 227T>C MELA-AU 17 79941507 79941507 single base substitution T C missense_variant V79A 236T>C MELA-AU 17 79941673 79941673 single base substitution C T downstream_gene_variant MELA-AU 17 79941673 79941673 single base substitution C T intron_variant MELA-AU 17 79942361 79942361 single base substitution G A downstream_gene_variant MELA-AU 17 79942361 79942361 single base substitution G A intron_variant MELA-AU 17 79943429 79943429 single base substitution C T 3_prime_UTR_variant MELA-AU 17 79943429 79943429 single base substitution C T downstream_gene_variant MELA-AU 17 79943429 79943429 single base substitution C T exon_variant MELA-AU 17 79943429 79943429 single base substitution C T missense_variant S104F 311C>T MELA-AU 17 79943429 79943429 single base substitution C T missense_variant S107F 320C>T MELA-AU 17 79943429 79943429 single base substitution C T missense_variant S30F 89C>T MELA-AU 17 79943429 79943429 single base substitution C T missense_variant S87F 260C>T MELA-AU 17 79943516 79943516 single base substitution C T downstream_gene_variant MELA-AU 17 79943516 79943516 single base substitution C T intron_variant MELA-AU 17 79943696 79943696 single base substitution G A downstream_gene_variant MELA-AU 17 79943696 79943696 single base substitution G A intron_variant MELA-AU 17 79943990 79943990 single base substitution C T downstream_gene_variant MELA-AU 17 79943990 79943990 single base substitution C T intron_variant MELA-AU 17 79944666 79944666 single base substitution C T downstream_gene_variant MELA-AU 17 79944666 79944666 single base substitution C T intron_variant MELA-AU 17 79945186 79945186 single base substitution G A downstream_gene_variant MELA-AU 17 79945186 79945186 single base substitution G A intron_variant MELA-AU 17 79945388 79945388 single base substitution C T downstream_gene_variant MELA-AU 17 79945388 79945388 single base substitution C T intron_variant MELA-AU 17 79946086 79946086 single base substitution C T downstream_gene_variant MELA-AU 17 79946086 79946086 single base substitution C T intron_variant MELA-AU 17 79947122 79947122 single base substitution C T intron_variant MELA-AU 17 79947657 79947657 single base substitution G A intron_variant MELA-AU 17 79948112 79948112 single base substitution C T intron_variant MELA-AU 17 79948687 79948687 single base substitution C T intron_variant MELA-AU 17 79948687 79948687 single base substitution C T upstream_gene_variant MELA-AU 17 79948993 79948993 single base substitution T A intron_variant MELA-AU 17 79948993 79948993 single base substitution T A upstream_gene_variant MELA-AU 17 79950131 79950131 single base substitution G A intron_variant MELA-AU 17 79950131 79950131 single base substitution G A upstream_gene_variant MELA-AU 17 79950161 79950161 single base substitution C T intron_variant MELA-AU 17 79950161 79950161 single base substitution C T upstream_gene_variant MELA-AU 17 79950449 79950449 single base substitution C T intron_variant MELA-AU 17 79950449 79950449 single base substitution C T upstream_gene_variant MELA-AU 17 79950780 79950780 single base substitution G A intron_variant MELA-AU 17 79950780 79950780 single base substitution G A upstream_gene_variant MELA-AU 17 79950857 79950857 single base substitution G T intron_variant MELA-AU 17 79950857 79950857 single base substitution G T upstream_gene_variant MELA-AU 17 79950985 79950985 single base substitution C T intron_variant MELA-AU 17 79950985 79950985 single base substitution C T upstream_gene_variant MELA-AU 17 79951128 79951128 single base substitution C T intron_variant MELA-AU 17 79951128 79951128 single base substitution C T upstream_gene_variant MELA-AU 17 79952108 79952108 single base substitution A G intron_variant MELA-AU 17 79952108 79952108 single base substitution A G upstream_gene_variant MELA-AU 17 79952193 79952193 single base substitution C T intron_variant MELA-AU 17 79952193 79952193 single base substitution C T upstream_gene_variant MELA-AU 17 79952921 79952922 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 17 79952921 79952922 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 79952921 79952922 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant P154L 460CC>TT MELA-AU 17 79952921 79952922 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 79953234 79953234 single base substitution C T downstream_gene_variant MELA-AU 17 79953234 79953234 single base substitution C T intron_variant MELA-AU 17 79953234 79953234 single base substitution C T upstream_gene_variant MELA-AU 17 79953266 79953266 single base substitution C T downstream_gene_variant MELA-AU 17 79953266 79953266 single base substitution C T intron_variant MELA-AU 17 79953266 79953266 single base substitution C T upstream_gene_variant MELA-AU 17 79954132 79954132 single base substitution C T downstream_gene_variant MELA-AU 17 79954132 79954132 single base substitution C T intron_variant MELA-AU 17 79954206 79954206 single base substitution G T downstream_gene_variant MELA-AU 17 79954206 79954206 single base substitution G T intron_variant MELA-AU 17 79954246 79954246 single base substitution C T downstream_gene_variant MELA-AU 17 79954246 79954246 single base substitution C T intron_variant MELA-AU 17 79954390 79954390 single base substitution C T 3_prime_UTR_variant MELA-AU 17 79954390 79954390 single base substitution C T downstream_gene_variant MELA-AU 17 79954390 79954390 single base substitution C T exon_variant MELA-AU 17 79954390 79954390 single base substitution C T intron_variant MELA-AU 17 79954390 79954390 single base substitution C T missense_variant P124S 370C>T MELA-AU 17 79954390 79954390 single base substitution C T missense_variant P198S 592C>T MELA-AU 17 79954390 79954390 single base substitution C T missense_variant P201S 601C>T MELA-AU 17 79954390 79954390 single base substitution C T missense_variant P30S 88C>T MELA-AU 17 79954604 79954605 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 17 79954604 79954605 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 17 79954604 79954605 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 17 79954604 79954605 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 79954604 79954605 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant S101F 302CC>TT MELA-AU 17 79954604 79954605 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant S195F 584CC>TT MELA-AU 17 79954604 79954605 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant S269F 806CC>TT MELA-AU 17 79954604 79954605 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant S272F 815CC>TT MELA-AU 17 79954982 79955003 deletion of <=200bp GCTCCGGGATGAGGCCGTGTGG - downstream_gene_variant MELA-AU 17 79954982 79955003 deletion of <=200bp GCTCCGGGATGAGGCCGTGTGG - intron_variant MELA-AU 17 79955008 79955008 single base substitution C T downstream_gene_variant MELA-AU 17 79955008 79955008 single base substitution C T intron_variant MELA-AU 17 79955024 79955024 single base substitution T G downstream_gene_variant MELA-AU 17 79955024 79955024 single base substitution T G intron_variant MELA-AU 17 79955154 79955154 single base substitution C T downstream_gene_variant MELA-AU 17 79955154 79955154 single base substitution C T intron_variant MELA-AU 17 79955620 79955620 single base substitution C T downstream_gene_variant MELA-AU 17 79955620 79955620 single base substitution C T intron_variant MELA-AU 17 79955652 79955652 single base substitution A G downstream_gene_variant MELA-AU 17 79955652 79955652 single base substitution A G intron_variant MELA-AU 17 79955687 79955687 single base substitution C T downstream_gene_variant MELA-AU 17 79955687 79955687 single base substitution C T intron_variant MELA-AU 17 79956267 79956267 single base substitution C T downstream_gene_variant MELA-AU 17 79956267 79956267 single base substitution C T intron_variant MELA-AU 17 79956495 79956495 single base substitution C T downstream_gene_variant MELA-AU 17 79956495 79956495 single base substitution C T intron_variant MELA-AU 17 79956682 79956682 single base substitution C T downstream_gene_variant MELA-AU 17 79956682 79956682 single base substitution C T intron_variant MELA-AU 17 79956864 79956864 single base substitution C T downstream_gene_variant MELA-AU 17 79956864 79956864 single base substitution C T intron_variant MELA-AU 17 79957040 79957040 single base substitution C T downstream_gene_variant MELA-AU 17 79957040 79957040 single base substitution C T intron_variant MELA-AU 17 79957188 79957188 single base substitution C T downstream_gene_variant MELA-AU 17 79957188 79957188 single base substitution C T intron_variant MELA-AU 17 79957190 79957190 single base substitution C T downstream_gene_variant MELA-AU 17 79957190 79957190 single base substitution C T intron_variant MELA-AU 17 79957725 79957726 multiple base substitution (>=2bp and <=200bp) CC TA downstream_gene_variant MELA-AU 17 79957725 79957726 multiple base substitution (>=2bp and <=200bp) CC TA intron_variant MELA-AU 17 79957725 79957726 multiple base substitution (>=2bp and <=200bp) CC TA upstream_gene_variant MELA-AU 17 79958699 79958699 single base substitution C T downstream_gene_variant MELA-AU 17 79958699 79958699 single base substitution C T intron_variant MELA-AU 17 79958699 79958699 single base substitution C T upstream_gene_variant MELA-AU 17 79958832 79958832 single base substitution G A downstream_gene_variant MELA-AU 17 79958832 79958832 single base substitution G A intron_variant MELA-AU 17 79958832 79958832 single base substitution G A upstream_gene_variant MELA-AU 17 79958843 79958844 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 17 79958843 79958844 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 79958843 79958844 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 79959462 79959462 single base substitution G T downstream_gene_variant MELA-AU 17 79959462 79959462 single base substitution G T intron_variant MELA-AU 17 79959462 79959462 single base substitution G T upstream_gene_variant MELA-AU 17 79959520 79959520 single base substitution C T downstream_gene_variant MELA-AU 17 79959520 79959520 single base substitution C T intron_variant MELA-AU 17 79959520 79959520 single base substitution C T upstream_gene_variant MELA-AU 17 79959734 79959734 single base substitution C T intron_variant MELA-AU 17 79959734 79959734 single base substitution C T upstream_gene_variant MELA-AU 17 79960201 79960201 single base substitution C T intron_variant MELA-AU 17 79960201 79960201 single base substitution C T upstream_gene_variant MELA-AU 17 79961576 79961577 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 79961576 79961577 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 79963125 79963125 single base substitution C T exon_variant MELA-AU 17 79963125 79963125 single base substitution C T intron_variant MELA-AU 17 79963125 79963125 single base substitution C T upstream_gene_variant MELA-AU 17 79963292 79963292 single base substitution C T exon_variant MELA-AU 17 79963292 79963292 single base substitution C T intron_variant MELA-AU 17 79963292 79963292 single base substitution C T upstream_gene_variant MELA-AU 17 79963373 79963373 single base substitution T C exon_variant MELA-AU 17 79963373 79963373 single base substitution T C intron_variant MELA-AU 17 79963373 79963373 single base substitution T C upstream_gene_variant MELA-AU 17 79963524 79963525 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 17 79963524 79963525 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 79963524 79963525 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 79963584 79963585 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 17 79963584 79963585 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 79963584 79963585 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 79963989 79963989 single base substitution C T exon_variant MELA-AU 17 79963989 79963989 single base substitution C T intron_variant MELA-AU 17 79963989 79963989 single base substitution C T upstream_gene_variant MELA-AU 17 79964189 79964189 single base substitution C T exon_variant MELA-AU 17 79964189 79964189 single base substitution C T intron_variant MELA-AU 17 79964189 79964189 single base substitution C T upstream_gene_variant MELA-AU 17 79964379 79964379 single base substitution A C exon_variant MELA-AU 17 79964379 79964379 single base substitution A C intron_variant MELA-AU 17 79964379 79964379 single base substitution A C upstream_gene_variant MELA-AU 17 79964776 79964776 single base substitution C T exon_variant MELA-AU 17 79964776 79964776 single base substitution C T intron_variant MELA-AU 17 79964776 79964776 single base substitution C T upstream_gene_variant MELA-AU 17 79964798 79964798 single base substitution C A exon_variant MELA-AU 17 79964798 79964798 single base substitution C A intron_variant MELA-AU 17 79964798 79964798 single base substitution C A upstream_gene_variant MELA-AU 17 79965394 79965394 single base substitution C T exon_variant MELA-AU 17 79965394 79965394 single base substitution C T intron_variant MELA-AU 17 79965394 79965394 single base substitution C T upstream_gene_variant MELA-AU 17 79965849 79965850 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 17 79965849 79965850 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 79965849 79965850 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 79965884 79965884 single base substitution C A exon_variant MELA-AU 17 79965884 79965884 single base substitution C A intron_variant MELA-AU 17 79965884 79965884 single base substitution C A upstream_gene_variant MELA-AU 17 79966415 79966415 single base substitution G A exon_variant MELA-AU 17 79966415 79966415 single base substitution G A intron_variant MELA-AU 17 79966415 79966415 single base substitution G A upstream_gene_variant MELA-AU 17 79966421 79966421 single base substitution C T exon_variant MELA-AU 17 79966421 79966421 single base substitution C T intron_variant MELA-AU 17 79966421 79966421 single base substitution C T upstream_gene_variant MELA-AU 17 79966512 79966512 single base substitution C T exon_variant MELA-AU 17 79966512 79966512 single base substitution C T intron_variant MELA-AU 17 79966512 79966512 single base substitution C T upstream_gene_variant MELA-AU 17 79966515 79966515 single base substitution G A exon_variant MELA-AU 17 79966515 79966515 single base substitution G A intron_variant MELA-AU 17 79966515 79966515 single base substitution G A upstream_gene_variant MELA-AU 17 79966757 79966757 single base substitution C T exon_variant MELA-AU 17 79966757 79966757 single base substitution C T intron_variant MELA-AU 17 79966757 79966757 single base substitution C T upstream_gene_variant MELA-AU 17 79967176 79967176 single base substitution C T downstream_gene_variant MELA-AU 17 79967176 79967176 single base substitution C T intron_variant MELA-AU 17 79967176 79967176 single base substitution C T upstream_gene_variant MELA-AU 17 79967277 79967278 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 79967277 79967278 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 79967277 79967278 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 79967303 79967303 single base substitution C T downstream_gene_variant MELA-AU 17 79967303 79967303 single base substitution C T intron_variant MELA-AU 17 79967303 79967303 single base substitution C T upstream_gene_variant MELA-AU 17 79967352 79967352 single base substitution C T downstream_gene_variant MELA-AU 17 79967352 79967352 single base substitution C T intron_variant MELA-AU 17 79967352 79967352 single base substitution C T upstream_gene_variant MELA-AU 17 79967495 79967495 single base substitution C T downstream_gene_variant MELA-AU 17 79967495 79967495 single base substitution C T intron_variant MELA-AU 17 79967495 79967495 single base substitution C T upstream_gene_variant MELA-AU 17 79968193 79968193 single base substitution C T downstream_gene_variant MELA-AU 17 79968193 79968193 single base substitution C T intron_variant MELA-AU 17 79968193 79968193 single base substitution C T upstream_gene_variant MELA-AU 17 79968591 79968591 single base substitution C T downstream_gene_variant MELA-AU 17 79968591 79968591 single base substitution C T intron_variant MELA-AU 17 79968591 79968591 single base substitution C T upstream_gene_variant MELA-AU 17 79968812 79968812 single base substitution C T downstream_gene_variant MELA-AU 17 79968812 79968812 single base substitution C T intron_variant MELA-AU 17 79968812 79968812 single base substitution C T upstream_gene_variant MELA-AU 17 79968816 79968816 single base substitution C T downstream_gene_variant MELA-AU 17 79968816 79968816 single base substitution C T intron_variant MELA-AU 17 79968816 79968816 single base substitution C T upstream_gene_variant MELA-AU 17 79969052 79969052 single base substitution C G downstream_gene_variant MELA-AU 17 79969052 79969052 single base substitution C G intron_variant MELA-AU 17 79969052 79969052 single base substitution C G upstream_gene_variant MELA-AU 17 79969052 79969052 single base substitution C T downstream_gene_variant MELA-AU 17 79969052 79969052 single base substitution C T intron_variant MELA-AU 17 79969052 79969052 single base substitution C T upstream_gene_variant MELA-AU 17 79969142 79969143 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 17 79969142 79969143 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 79969142 79969143 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 79969576 79969576 single base substitution T A downstream_gene_variant MELA-AU 17 79969576 79969576 single base substitution T A intron_variant MELA-AU 17 79969576 79969576 single base substitution T A upstream_gene_variant MELA-AU 17 79969665 79969665 single base substitution C T downstream_gene_variant MELA-AU 17 79969665 79969665 single base substitution C T intron_variant MELA-AU 17 79969665 79969665 single base substitution C T upstream_gene_variant MELA-AU 17 79970010 79970010 single base substitution G A downstream_gene_variant MELA-AU 17 79970010 79970010 single base substitution G A exon_variant MELA-AU 17 79970010 79970010 single base substitution G A intron_variant MELA-AU 17 79970010 79970010 single base substitution G A upstream_gene_variant MELA-AU 17 79970082 79970082 single base substitution A T downstream_gene_variant MELA-AU 17 79970082 79970082 single base substitution A T exon_variant MELA-AU 17 79970082 79970082 single base substitution A T intron_variant MELA-AU 17 79970082 79970082 single base substitution A T missense_variant T374S 1120A>T MELA-AU 17 79970082 79970082 single base substitution A T upstream_gene_variant MELA-AU 17 79970590 79970590 single base substitution C T downstream_gene_variant MELA-AU 17 79970590 79970590 single base substitution C T intron_variant MELA-AU 17 79970590 79970590 single base substitution C T upstream_gene_variant MELA-AU 17 79970658 79970658 single base substitution C T downstream_gene_variant MELA-AU 17 79970658 79970658 single base substitution C T intron_variant MELA-AU 17 79970658 79970658 single base substitution C T upstream_gene_variant MELA-AU 17 79970728 79970728 single base substitution C T downstream_gene_variant MELA-AU 17 79970728 79970728 single base substitution C T intron_variant MELA-AU 17 79970728 79970728 single base substitution C T upstream_gene_variant MELA-AU 17 79971498 79971498 single base substitution G A downstream_gene_variant MELA-AU 17 79971498 79971498 single base substitution G A exon_variant MELA-AU 17 79971498 79971498 single base substitution G A intron_variant MELA-AU 17 79971498 79971498 single base substitution G A upstream_gene_variant MELA-AU 17 79972004 79972004 single base substitution C T downstream_gene_variant MELA-AU 17 79972004 79972004 single base substitution C T exon_variant MELA-AU 17 79972004 79972004 single base substitution C T intron_variant MELA-AU 17 79972004 79972004 single base substitution C T upstream_gene_variant MELA-AU 17 79972364 79972364 single base substitution C A downstream_gene_variant MELA-AU 17 79972364 79972364 single base substitution C A exon_variant MELA-AU 17 79972364 79972364 single base substitution C A intron_variant MELA-AU 17 79972364 79972364 single base substitution C A upstream_gene_variant MELA-AU 17 79972490 79972490 single base substitution C T downstream_gene_variant MELA-AU 17 79972490 79972490 single base substitution C T exon_variant MELA-AU 17 79972490 79972490 single base substitution C T intron_variant MELA-AU 17 79972490 79972490 single base substitution C T upstream_gene_variant MELA-AU 17 79972505 79972505 single base substitution G T downstream_gene_variant MELA-AU 17 79972505 79972505 single base substitution G T exon_variant MELA-AU 17 79972505 79972505 single base substitution G T intron_variant MELA-AU 17 79972505 79972505 single base substitution G T upstream_gene_variant MELA-AU 17 79972842 79972842 single base substitution C T downstream_gene_variant MELA-AU 17 79972842 79972842 single base substitution C T exon_variant MELA-AU 17 79972842 79972842 single base substitution C T intron_variant MELA-AU 17 79972842 79972842 single base substitution C T upstream_gene_variant MELA-AU 17 79972907 79972907 single base substitution C T downstream_gene_variant MELA-AU 17 79972907 79972907 single base substitution C T exon_variant MELA-AU 17 79972907 79972907 single base substitution C T intron_variant MELA-AU 17 79972907 79972907 single base substitution C T upstream_gene_variant MELA-AU 17 79973195 79973195 single base substitution G A downstream_gene_variant MELA-AU 17 79973195 79973195 single base substitution G A exon_variant MELA-AU 17 79973195 79973195 single base substitution G A intron_variant MELA-AU 17 79973195 79973195 single base substitution G A missense_variant R533Q 1598G>A MELA-AU 17 79973195 79973195 single base substitution G A upstream_gene_variant MELA-AU 17 79973604 79973604 single base substitution C T downstream_gene_variant MELA-AU 17 79973604 79973604 single base substitution C T exon_variant MELA-AU 17 79973604 79973604 single base substitution C T intron_variant MELA-AU 17 79973604 79973604 single base substitution C T upstream_gene_variant MELA-AU 17 79974368 79974369 multiple base substitution (>=2bp and <=200bp) CC AT exon_variant MELA-AU 17 79974368 79974369 multiple base substitution (>=2bp and <=200bp) CC AT missense_variant A286D 857CC>AT MELA-AU 17 79974368 79974369 multiple base substitution (>=2bp and <=200bp) CC AT missense_variant A405D 1214CC>AT MELA-AU 17 79974368 79974369 multiple base substitution (>=2bp and <=200bp) CC AT missense_variant A457D 1370CC>AT MELA-AU 17 79974368 79974369 multiple base substitution (>=2bp and <=200bp) CC AT missense_variant A551D 1652CC>AT MELA-AU 17 79974368 79974369 multiple base substitution (>=2bp and <=200bp) CC AT missense_variant A64D 191CC>AT MELA-AU 17 79974451 79974451 single base substitution C T exon_variant MELA-AU 17 79974451 79974451 single base substitution C T intron_variant MELA-AU 17 79974775 79974776 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 17 79974775 79974776 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 79974860 79974860 single base substitution C T exon_variant MELA-AU 17 79974860 79974860 single base substitution C T missense_variant P114S 340C>T MELA-AU 17 79974860 79974860 single base substitution C T missense_variant P336S 1006C>T MELA-AU 17 79974860 79974860 single base substitution C T missense_variant P455S 1363C>T MELA-AU 17 79974860 79974860 single base substitution C T missense_variant P507S 1519C>T MELA-AU 17 79974860 79974860 single base substitution C T missense_variant P601S 1801C>T MELA-AU 17 79975561 79975561 single base substitution G A downstream_gene_variant MELA-AU 17 79975748 79975748 single base substitution G A downstream_gene_variant MELA-AU 17 79976004 79976004 single base substitution A G downstream_gene_variant MELA-AU 17 79976359 79976359 single base substitution C T downstream_gene_variant MELA-AU 17 79977488 79977488 single base substitution C T downstream_gene_variant MELA-AU 17 79977524 79977524 single base substitution G A downstream_gene_variant MELA-AU 17 79978483 79978483 insertion of <=200bp - T downstream_gene_variant MELA-AU 17 79978995 79978995 single base substitution C T downstream_gene_variant ORCA-IN 17 79931286 79931286 single base substitution G A upstream_gene_variant ORCA-IN 17 79943140 79943140 single base substitution G C downstream_gene_variant ORCA-IN 17 79943140 79943140 single base substitution G C intron_variant ORCA-IN 17 79943712 79943712 single base substitution G A downstream_gene_variant ORCA-IN 17 79943712 79943712 single base substitution G A intron_variant ORCA-IN 17 79960667 79960667 single base substitution C T intron_variant ORCA-IN 17 79960667 79960667 single base substitution C T upstream_gene_variant ORCA-IN 17 79979270 79979270 single base substitution C T downstream_gene_variant OV-AU 17 79939374 79939374 single base substitution C T intron_variant OV-AU 17 79939905 79939905 single base substitution C T intron_variant OV-AU 17 79943853 79943853 single base substitution T C downstream_gene_variant OV-AU 17 79943853 79943853 single base substitution T C intron_variant OV-AU 17 79945387 79945387 single base substitution C A downstream_gene_variant OV-AU 17 79945387 79945387 single base substitution C A intron_variant OV-AU 17 79954221 79954221 single base substitution T G downstream_gene_variant OV-AU 17 79954221 79954221 single base substitution T G intron_variant OV-AU 17 79954545 79954545 single base substitution G A 3_prime_UTR_variant OV-AU 17 79954545 79954545 single base substitution G A downstream_gene_variant OV-AU 17 79954545 79954545 single base substitution G A exon_variant OV-AU 17 79954545 79954545 single base substitution G A intron_variant OV-AU 17 79954545 79954545 single base substitution G A synonymous_variant L175L 525G>A OV-AU 17 79954545 79954545 single base substitution G A synonymous_variant L249L 747G>A OV-AU 17 79954545 79954545 single base substitution G A synonymous_variant L252L 756G>A OV-AU 17 79954545 79954545 single base substitution G A synonymous_variant L81L 243G>A OV-AU 17 79954550 79954550 single base substitution G T 3_prime_UTR_variant OV-AU 17 79954550 79954550 single base substitution G T downstream_gene_variant OV-AU 17 79954550 79954550 single base substitution G T exon_variant OV-AU 17 79954550 79954550 single base substitution G T intron_variant OV-AU 17 79954550 79954550 single base substitution G T missense_variant G177V 530G>T OV-AU 17 79954550 79954550 single base substitution G T missense_variant G251V 752G>T OV-AU 17 79954550 79954550 single base substitution G T missense_variant G254V 761G>T OV-AU 17 79954550 79954550 single base substitution G T missense_variant G83V 248G>T OV-AU 17 79966805 79966805 single base substitution G A exon_variant OV-AU 17 79966805 79966805 single base substitution G A intron_variant OV-AU 17 79966805 79966805 single base substitution G A upstream_gene_variant OV-AU 17 79967093 79967093 single base substitution G A downstream_gene_variant OV-AU 17 79967093 79967093 single base substitution G A intron_variant OV-AU 17 79967093 79967093 single base substitution G A upstream_gene_variant OV-AU 17 79967580 79967580 single base substitution G A downstream_gene_variant OV-AU 17 79967580 79967580 single base substitution G A intron_variant OV-AU 17 79967580 79967580 single base substitution G A upstream_gene_variant OV-AU 17 79967805 79967805 single base substitution G C downstream_gene_variant OV-AU 17 79967805 79967805 single base substitution G C intron_variant OV-AU 17 79967805 79967805 single base substitution G C splice_region_variant OV-AU 17 79967805 79967805 single base substitution G C upstream_gene_variant OV-AU 17 79970610 79970610 single base substitution T C downstream_gene_variant OV-AU 17 79970610 79970610 single base substitution T C intron_variant OV-AU 17 79970610 79970610 single base substitution T C upstream_gene_variant OV-AU 17 79971671 79971671 single base substitution G A downstream_gene_variant OV-AU 17 79971671 79971671 single base substitution G A exon_variant OV-AU 17 79971671 79971671 single base substitution G A intron_variant OV-AU 17 79971671 79971671 single base substitution G A upstream_gene_variant OV-AU 17 79972176 79972176 single base substitution T G downstream_gene_variant OV-AU 17 79972176 79972176 single base substitution T G exon_variant OV-AU 17 79972176 79972176 single base substitution T G intron_variant OV-AU 17 79972176 79972176 single base substitution T G upstream_gene_variant OV-AU 17 79972507 79972507 single base substitution G C downstream_gene_variant OV-AU 17 79972507 79972507 single base substitution G C exon_variant OV-AU 17 79972507 79972507 single base substitution G C intron_variant OV-AU 17 79972507 79972507 single base substitution G C upstream_gene_variant OV-AU 17 79974838 79974838 single base substitution G A exon_variant OV-AU 17 79974838 79974838 single base substitution G A synonymous_variant G106G 318G>A OV-AU 17 79974838 79974838 single base substitution G A synonymous_variant G328G 984G>A OV-AU 17 79974838 79974838 single base substitution G A synonymous_variant G447G 1341G>A OV-AU 17 79974838 79974838 single base substitution G A synonymous_variant G499G 1497G>A OV-AU 17 79974838 79974838 single base substitution G A synonymous_variant G593G 1779G>A OV-AU 17 79976755 79976755 single base substitution A G downstream_gene_variant OV-AU 17 79977756 79977756 single base substitution G A downstream_gene_variant OV-AU 17 79978541 79978541 single base substitution T G downstream_gene_variant PACA-AU 17 79930985 79930985 single base substitution G T upstream_gene_variant PACA-AU 17 79933398 79933398 single base substitution G A upstream_gene_variant PACA-AU 17 79934423 79934423 single base substitution A G upstream_gene_variant PACA-AU 17 79938322 79938322 single base substitution C G intron_variant PACA-AU 17 79938467 79938467 single base substitution C A intron_variant PACA-AU 17 79938934 79938935 deletion of <=200bp TG - intron_variant PACA-AU 17 79944589 79944589 single base substitution A C downstream_gene_variant PACA-AU 17 79944589 79944589 single base substitution A C intron_variant PACA-AU 17 79944592 79944592 single base substitution A G downstream_gene_variant PACA-AU 17 79944592 79944592 single base substitution A G intron_variant PACA-AU 17 79944594 79944594 single base substitution A C downstream_gene_variant PACA-AU 17 79944594 79944594 single base substitution A C intron_variant PACA-AU 17 79947975 79947975 single base substitution G A intron_variant PACA-AU 17 79948218 79948218 single base substitution G A intron_variant PACA-AU 17 79948893 79948893 single base substitution G A intron_variant PACA-AU 17 79948893 79948893 single base substitution G A upstream_gene_variant PACA-AU 17 79950235 79950235 single base substitution G A intron_variant PACA-AU 17 79950235 79950235 single base substitution G A upstream_gene_variant PACA-AU 17 79953677 79953677 single base substitution G A downstream_gene_variant PACA-AU 17 79953677 79953677 single base substitution G A intron_variant PACA-AU 17 79957717 79957717 single base substitution C T downstream_gene_variant PACA-AU 17 79957717 79957717 single base substitution C T intron_variant PACA-AU 17 79957717 79957717 single base substitution C T upstream_gene_variant PACA-AU 17 79962600 79962600 single base substitution C T exon_variant PACA-AU 17 79962600 79962600 single base substitution C T intron_variant PACA-AU 17 79962600 79962600 single base substitution C T upstream_gene_variant PACA-AU 17 79964176 79964176 single base substitution G T exon_variant PACA-AU 17 79964176 79964176 single base substitution G T intron_variant PACA-AU 17 79964176 79964176 single base substitution G T upstream_gene_variant PACA-AU 17 79966923 79966923 single base substitution G A downstream_gene_variant PACA-AU 17 79966923 79966923 single base substitution G A exon_variant PACA-AU 17 79966923 79966923 single base substitution G A missense_variant R144Q 431G>A PACA-AU 17 79966923 79966923 single base substitution G A missense_variant R238Q 713G>A PACA-AU 17 79966923 79966923 single base substitution G A missense_variant R315Q 944G>A PACA-AU 17 79966923 79966923 single base substitution G A upstream_gene_variant PACA-CA 17 79937851 79937851 insertion of <=200bp - T intron_variant PACA-CA 17 79937860 79937860 insertion of <=200bp - T intron_variant PACA-CA 17 79938417 79938417 single base substitution C A intron_variant PACA-CA 17 79939867 79939867 single base substitution C T intron_variant PACA-CA 17 79944491 79944491 single base substitution G C downstream_gene_variant PACA-CA 17 79944491 79944491 single base substitution G C intron_variant PACA-CA 17 79948581 79948581 single base substitution G T intron_variant PACA-CA 17 79948581 79948581 single base substitution G T upstream_gene_variant PACA-CA 17 79953101 79953101 single base substitution C A downstream_gene_variant PACA-CA 17 79953101 79953101 single base substitution C A intron_variant PACA-CA 17 79953101 79953101 single base substitution C A upstream_gene_variant PACA-CA 17 79953237 79953237 single base substitution G A downstream_gene_variant PACA-CA 17 79953237 79953237 single base substitution G A intron_variant PACA-CA 17 79953237 79953237 single base substitution G A upstream_gene_variant PACA-CA 17 79953445 79953445 single base substitution C T downstream_gene_variant PACA-CA 17 79953445 79953445 single base substitution C T intron_variant PACA-CA 17 79954964 79954964 single base substitution C T downstream_gene_variant PACA-CA 17 79954964 79954964 single base substitution C T intron_variant PACA-CA 17 79954995 79954995 single base substitution G T downstream_gene_variant PACA-CA 17 79954995 79954995 single base substitution G T intron_variant PACA-CA 17 79965152 79965152 single base substitution T C exon_variant PACA-CA 17 79965152 79965152 single base substitution T C intron_variant PACA-CA 17 79965152 79965152 single base substitution T C upstream_gene_variant PACA-CA 17 79966478 79966478 single base substitution G A exon_variant PACA-CA 17 79966478 79966478 single base substitution G A intron_variant PACA-CA 17 79966478 79966478 single base substitution G A upstream_gene_variant PACA-CA 17 79967433 79967433 single base substitution G A 3_prime_UTR_variant PACA-CA 17 79967433 79967433 single base substitution G A downstream_gene_variant PACA-CA 17 79967433 79967433 single base substitution G A exon_variant PACA-CA 17 79967433 79967433 single base substitution G A missense_variant R216H 647G>A PACA-CA 17 79967433 79967433 single base substitution G A missense_variant R310H 929G>A PACA-CA 17 79967433 79967433 single base substitution G A missense_variant R387H 1160G>A PACA-CA 17 79967433 79967433 single base substitution G A upstream_gene_variant PACA-CA 17 79977165 79977165 single base substitution G A downstream_gene_variant PAEN-AU 17 79940602 79940602 single base substitution C T intron_variant PAEN-AU 17 79944619 79944619 single base substitution G A downstream_gene_variant PAEN-AU 17 79944619 79944619 single base substitution G A intron_variant PAEN-AU 17 79955596 79955596 single base substitution A C downstream_gene_variant PAEN-AU 17 79955596 79955596 single base substitution A C intron_variant PAEN-AU 17 79963906 79963906 single base substitution G A exon_variant PAEN-AU 17 79963906 79963906 single base substitution G A intron_variant PAEN-AU 17 79963906 79963906 single base substitution G A upstream_gene_variant PAEN-AU 17 79963919 79963919 single base substitution T C exon_variant PAEN-AU 17 79963919 79963919 single base substitution T C intron_variant PAEN-AU 17 79963919 79963919 single base substitution T C upstream_gene_variant PAEN-AU 17 79967646 79967646 single base substitution T C downstream_gene_variant PAEN-AU 17 79967646 79967646 single base substitution T C intron_variant PAEN-AU 17 79967646 79967646 single base substitution T C upstream_gene_variant PAEN-IT 17 79940682 79940682 single base substitution T C intron_variant PBCA-DE 17 79937627 79937627 single base substitution G A intron_variant PBCA-DE 17 79941378 79941378 single base substitution A G intron_variant PBCA-DE 17 79942763 79942763 single base substitution C A downstream_gene_variant PBCA-DE 17 79942763 79942763 single base substitution C A intron_variant PBCA-DE 17 79948548 79948548 single base substitution G A intron_variant PBCA-DE 17 79948548 79948548 single base substitution G A upstream_gene_variant PBCA-DE 17 79967517 79967517 insertion of <=200bp - A downstream_gene_variant PBCA-DE 17 79967517 79967517 insertion of <=200bp - A intron_variant PBCA-DE 17 79967517 79967517 insertion of <=200bp - A upstream_gene_variant PBCA-DE 17 79967542 79967542 single base substitution C G downstream_gene_variant PBCA-DE 17 79967542 79967542 single base substitution C G intron_variant PBCA-DE 17 79967542 79967542 single base substitution C G upstream_gene_variant PBCA-DE 17 79967667 79967667 deletion of <=200bp T - downstream_gene_variant PBCA-DE 17 79967667 79967667 deletion of <=200bp T - intron_variant PBCA-DE 17 79967667 79967667 deletion of <=200bp T - upstream_gene_variant PRAD-CA 17 79954980 79954980 single base substitution C G downstream_gene_variant PRAD-CA 17 79954980 79954980 single base substitution C G intron_variant PRAD-CA 17 79954981 79954981 single base substitution C G downstream_gene_variant PRAD-CA 17 79954981 79954981 single base substitution C G intron_variant PRAD-CA 17 79955024 79955024 single base substitution T G downstream_gene_variant PRAD-CA 17 79955024 79955024 single base substitution T G intron_variant PRAD-UK 17 79939488 79939488 single base substitution C G intron_variant PRAD-UK 17 79940258 79940258 single base substitution G A intron_variant PRAD-UK 17 79944776 79944776 single base substitution G T downstream_gene_variant PRAD-UK 17 79944776 79944776 single base substitution G T intron_variant PRAD-UK 17 79962854 79962854 single base substitution G T exon_variant PRAD-UK 17 79962854 79962854 single base substitution G T intron_variant PRAD-UK 17 79962854 79962854 single base substitution G T upstream_gene_variant PRAD-UK 17 79973504 79973504 single base substitution C T downstream_gene_variant PRAD-UK 17 79973504 79973504 single base substitution C T exon_variant PRAD-UK 17 79973504 79973504 single base substitution C T intron_variant PRAD-UK 17 79973504 79973504 single base substitution C T upstream_gene_variant PRAD-US 17 79954527 79954527 single base substitution G A 3_prime_UTR_variant PRAD-US 17 79954527 79954527 single base substitution G A downstream_gene_variant PRAD-US 17 79954527 79954527 single base substitution G A exon_variant PRAD-US 17 79954527 79954527 single base substitution G A intron_variant PRAD-US 17 79954527 79954527 single base substitution G A synonymous_variant S169S 507G>A PRAD-US 17 79954527 79954527 single base substitution G A synonymous_variant S243S 729G>A PRAD-US 17 79954527 79954527 single base substitution G A synonymous_variant S246S 738G>A PRAD-US 17 79954527 79954527 single base substitution G A synonymous_variant S75S 225G>A READ-US 17 79967011 79967011 single base substitution C A downstream_gene_variant READ-US 17 79967011 79967011 single base substitution C A exon_variant READ-US 17 79967011 79967011 single base substitution C A missense_variant F173L 519C>A READ-US 17 79967011 79967011 single base substitution C A missense_variant F267L 801C>A READ-US 17 79967011 79967011 single base substitution C A missense_variant F344L 1032C>A READ-US 17 79967011 79967011 single base substitution C A upstream_gene_variant READ-US 17 79967066 79967066 single base substitution C T downstream_gene_variant READ-US 17 79967066 79967066 single base substitution C T missense_variant R192W 574C>T READ-US 17 79967066 79967066 single base substitution C T missense_variant R286W 856C>T READ-US 17 79967066 79967066 single base substitution C T missense_variant R363W 1087C>T READ-US 17 79967066 79967066 single base substitution C T splice_region_variant READ-US 17 79967066 79967066 single base substitution C T upstream_gene_variant RECA-EU 17 79931871 79931871 single base substitution C A upstream_gene_variant RECA-EU 17 79938609 79938609 single base substitution T C intron_variant RECA-EU 17 79950423 79950423 single base substitution G A intron_variant RECA-EU 17 79950423 79950423 single base substitution G A upstream_gene_variant RECA-EU 17 79968423 79968423 single base substitution A C downstream_gene_variant RECA-EU 17 79968423 79968423 single base substitution A C intron_variant RECA-EU 17 79968423 79968423 single base substitution A C upstream_gene_variant RECA-EU 17 79972813 79972813 single base substitution G T downstream_gene_variant RECA-EU 17 79972813 79972813 single base substitution G T exon_variant RECA-EU 17 79972813 79972813 single base substitution G T intron_variant RECA-EU 17 79972813 79972813 single base substitution G T upstream_gene_variant RECA-EU 17 79973028 79973028 single base substitution A G downstream_gene_variant RECA-EU 17 79973028 79973028 single base substitution A G exon_variant RECA-EU 17 79973028 79973028 single base substitution A G intron_variant RECA-EU 17 79973028 79973028 single base substitution A G synonymous_variant T477T 1431A>G RECA-EU 17 79973028 79973028 single base substitution A G upstream_gene_variant RECA-EU 17 79979441 79979441 single base substitution A G downstream_gene_variant SKCA-BR 17 79933340 79933340 single base substitution C T upstream_gene_variant SKCA-BR 17 79933635 79933636 deletion of <=200bp AT - upstream_gene_variant SKCA-BR 17 79935049 79935049 single base substitution A G intron_variant SKCA-BR 17 79935049 79935049 single base substitution A G upstream_gene_variant SKCA-BR 17 79935066 79935066 single base substitution G A intron_variant SKCA-BR 17 79935066 79935066 single base substitution G A upstream_gene_variant SKCA-BR 17 79935768 79935768 single base substitution T C intron_variant SKCA-BR 17 79935768 79935768 single base substitution T C upstream_gene_variant SKCA-BR 17 79937230 79937230 single base substitution C T intron_variant SKCA-BR 17 79948267 79948267 single base substitution C T intron_variant SKCA-BR 17 79948340 79948340 single base substitution C T intron_variant SKCA-BR 17 79948340 79948340 single base substitution C T upstream_gene_variant SKCA-BR 17 79951975 79951975 single base substitution C T intron_variant SKCA-BR 17 79951975 79951975 single base substitution C T upstream_gene_variant SKCA-BR 17 79953473 79953473 single base substitution A C downstream_gene_variant SKCA-BR 17 79953473 79953473 single base substitution A C intron_variant SKCA-BR 17 79953500 79953500 single base substitution A C downstream_gene_variant SKCA-BR 17 79953500 79953500 single base substitution A C intron_variant SKCA-BR 17 79953729 79953729 single base substitution C G downstream_gene_variant SKCA-BR 17 79953729 79953729 single base substitution C G intron_variant SKCA-BR 17 79953743 79953743 single base substitution T G downstream_gene_variant SKCA-BR 17 79953743 79953743 single base substitution T G intron_variant SKCA-BR 17 79954981 79954981 insertion of <=200bp - CGCTCCGGGATGAGGCCGTGTGG downstream_gene_variant SKCA-BR 17 79954981 79954981 insertion of <=200bp - CGCTCCGGGATGAGGCCGTGTGG intron_variant SKCA-BR 17 79955024 79955024 single base substitution T G downstream_gene_variant SKCA-BR 17 79955024 79955024 single base substitution T G intron_variant SKCA-BR 17 79957992 79957992 single base substitution C T downstream_gene_variant SKCA-BR 17 79957992 79957992 single base substitution C T intron_variant SKCA-BR 17 79957992 79957992 single base substitution C T upstream_gene_variant SKCA-BR 17 79958082 79958082 single base substitution T C downstream_gene_variant SKCA-BR 17 79958082 79958082 single base substitution T C intron_variant SKCA-BR 17 79958082 79958082 single base substitution T C upstream_gene_variant SKCA-BR 17 79958695 79958695 single base substitution T C downstream_gene_variant SKCA-BR 17 79958695 79958695 single base substitution T C intron_variant SKCA-BR 17 79958695 79958695 single base substitution T C upstream_gene_variant SKCA-BR 17 79959735 79959735 single base substitution C G intron_variant SKCA-BR 17 79959735 79959735 single base substitution C G upstream_gene_variant SKCA-BR 17 79961117 79961117 single base substitution T G intron_variant SKCA-BR 17 79961117 79961117 single base substitution T G upstream_gene_variant SKCA-BR 17 79963179 79963179 single base substitution T G exon_variant SKCA-BR 17 79963179 79963179 single base substitution T G intron_variant SKCA-BR 17 79963179 79963179 single base substitution T G upstream_gene_variant SKCA-BR 17 79963187 79963187 single base substitution C T exon_variant SKCA-BR 17 79963187 79963187 single base substitution C T intron_variant SKCA-BR 17 79963187 79963187 single base substitution C T upstream_gene_variant SKCA-BR 17 79965393 79965393 single base substitution C T exon_variant SKCA-BR 17 79965393 79965393 single base substitution C T intron_variant SKCA-BR 17 79965393 79965393 single base substitution C T upstream_gene_variant SKCA-BR 17 79965574 79965574 single base substitution A C exon_variant SKCA-BR 17 79965574 79965574 single base substitution A C intron_variant SKCA-BR 17 79965574 79965574 single base substitution A C upstream_gene_variant SKCA-BR 17 79966450 79966450 single base substitution G A exon_variant SKCA-BR 17 79966450 79966450 single base substitution G A intron_variant SKCA-BR 17 79966450 79966450 single base substitution G A upstream_gene_variant SKCA-BR 17 79966543 79966543 single base substitution T C exon_variant SKCA-BR 17 79966543 79966543 single base substitution T C intron_variant SKCA-BR 17 79966543 79966543 single base substitution T C upstream_gene_variant SKCA-BR 17 79966931 79966931 single base substitution G A downstream_gene_variant SKCA-BR 17 79966931 79966931 single base substitution G A exon_variant SKCA-BR 17 79966931 79966931 single base substitution G A missense_variant V147M 439G>A SKCA-BR 17 79966931 79966931 single base substitution G A missense_variant V241M 721G>A SKCA-BR 17 79966931 79966931 single base substitution G A missense_variant V318M 952G>A SKCA-BR 17 79966931 79966931 single base substitution G A upstream_gene_variant SKCA-BR 17 79968101 79968101 single base substitution T G downstream_gene_variant SKCA-BR 17 79968101 79968101 single base substitution T G intron_variant SKCA-BR 17 79968101 79968101 single base substitution T G upstream_gene_variant SKCA-BR 17 79969180 79969180 single base substitution T G downstream_gene_variant SKCA-BR 17 79969180 79969180 single base substitution T G intron_variant SKCA-BR 17 79969180 79969180 single base substitution T G upstream_gene_variant SKCA-BR 17 79970219 79970219 single base substitution G A downstream_gene_variant SKCA-BR 17 79970219 79970219 single base substitution G A intron_variant SKCA-BR 17 79970219 79970219 single base substitution G A upstream_gene_variant SKCA-BR 17 79970877 79970877 insertion of <=200bp - CG downstream_gene_variant SKCA-BR 17 79970877 79970877 insertion of <=200bp - CG exon_variant SKCA-BR 17 79970877 79970877 insertion of <=200bp - CG intron_variant SKCA-BR 17 79970877 79970877 insertion of <=200bp - CG upstream_gene_variant SKCA-BR 17 79970880 79970880 insertion of <=200bp - GGT downstream_gene_variant SKCA-BR 17 79970880 79970880 insertion of <=200bp - GGT exon_variant SKCA-BR 17 79970880 79970880 insertion of <=200bp - GGT intron_variant SKCA-BR 17 79970880 79970880 insertion of <=200bp - GGT upstream_gene_variant SKCA-BR 17 79970890 79970890 single base substitution A T downstream_gene_variant SKCA-BR 17 79970890 79970890 single base substitution A T exon_variant SKCA-BR 17 79970890 79970890 single base substitution A T intron_variant SKCA-BR 17 79970890 79970890 single base substitution A T upstream_gene_variant SKCA-BR 17 79971375 79971375 single base substitution C G downstream_gene_variant SKCA-BR 17 79971375 79971375 single base substitution C G exon_variant SKCA-BR 17 79971375 79971375 single base substitution C G intron_variant SKCA-BR 17 79971375 79971375 single base substitution C G upstream_gene_variant SKCA-BR 17 79972330 79972330 single base substitution C T downstream_gene_variant SKCA-BR 17 79972330 79972330 single base substitution C T exon_variant SKCA-BR 17 79972330 79972330 single base substitution C T intron_variant SKCA-BR 17 79972330 79972330 single base substitution C T upstream_gene_variant SKCA-BR 17 79972643 79972643 single base substitution C T downstream_gene_variant SKCA-BR 17 79972643 79972643 single base substitution C T exon_variant SKCA-BR 17 79972643 79972643 single base substitution C T intron_variant SKCA-BR 17 79972643 79972643 single base substitution C T upstream_gene_variant SKCA-BR 17 79972948 79972948 single base substitution C T downstream_gene_variant SKCA-BR 17 79972948 79972948 single base substitution C T exon_variant SKCA-BR 17 79972948 79972948 single base substitution C T intron_variant SKCA-BR 17 79972948 79972948 single base substitution C T splice_region_variant SKCA-BR 17 79972948 79972948 single base substitution C T upstream_gene_variant SKCA-BR 17 79974674 79974674 single base substitution A T exon_variant SKCA-BR 17 79974674 79974674 single base substitution A T splice_acceptor_variant SKCA-BR 17 79979504 79979504 single base substitution T C downstream_gene_variant SKCM-US 17 79941490 79941490 single base substitution T C 3_prime_UTR_variant SKCM-US 17 79941490 79941490 single base substitution T C 5_prime_UTR_variant SKCM-US 17 79941490 79941490 single base substitution T C exon_variant SKCM-US 17 79941490 79941490 single base substitution T C start_lost M1T 2T>C SKCM-US 17 79941490 79941490 single base substitution T C synonymous_variant N53N 159T>C SKCM-US 17 79941490 79941490 single base substitution T C synonymous_variant N70N 210T>C SKCM-US 17 79941490 79941490 single base substitution T C synonymous_variant N73N 219T>C SKCM-US 17 79954353 79954353 single base substitution A G 3_prime_UTR_variant SKCM-US 17 79954353 79954353 single base substitution A G downstream_gene_variant SKCM-US 17 79954353 79954353 single base substitution A G exon_variant SKCM-US 17 79954353 79954353 single base substitution A G intron_variant SKCM-US 17 79954353 79954353 single base substitution A G synonymous_variant S111S 333A>G SKCM-US 17 79954353 79954353 single base substitution A G synonymous_variant S17S 51A>G SKCM-US 17 79954353 79954353 single base substitution A G synonymous_variant S185S 555A>G SKCM-US 17 79954353 79954353 single base substitution A G synonymous_variant S188S 564A>G SKCM-US 17 79954429 79954429 single base substitution C T 3_prime_UTR_variant SKCM-US 17 79954429 79954429 single base substitution C T downstream_gene_variant SKCM-US 17 79954429 79954429 single base substitution C T exon_variant SKCM-US 17 79954429 79954429 single base substitution C T intron_variant SKCM-US 17 79954429 79954429 single base substitution C T missense_variant R137C 409C>T SKCM-US 17 79954429 79954429 single base substitution C T missense_variant R211C 631C>T SKCM-US 17 79954429 79954429 single base substitution C T missense_variant R214C 640C>T SKCM-US 17 79954429 79954429 single base substitution C T missense_variant R43C 127C>T SKCM-US 17 79954519 79954519 single base substitution C T 3_prime_UTR_variant SKCM-US 17 79954519 79954519 single base substitution C T downstream_gene_variant SKCM-US 17 79954519 79954519 single base substitution C T exon_variant SKCM-US 17 79954519 79954519 single base substitution C T intron_variant SKCM-US 17 79954519 79954519 single base substitution C T missense_variant P167S 499C>T SKCM-US 17 79954519 79954519 single base substitution C T missense_variant P241S 721C>T SKCM-US 17 79954519 79954519 single base substitution C T missense_variant P244S 730C>T SKCM-US 17 79954519 79954519 single base substitution C T missense_variant P73S 217C>T SKCM-US 17 79954604 79954604 single base substitution C T 3_prime_UTR_variant SKCM-US 17 79954604 79954604 single base substitution C T downstream_gene_variant SKCM-US 17 79954604 79954604 single base substitution C T exon_variant SKCM-US 17 79954604 79954604 single base substitution C T intron_variant SKCM-US 17 79954604 79954604 single base substitution C T missense_variant S101F 302C>T SKCM-US 17 79954604 79954604 single base substitution C T missense_variant S195F 584C>T SKCM-US 17 79954604 79954604 single base substitution C T missense_variant S269F 806C>T SKCM-US 17 79954604 79954604 single base substitution C T missense_variant S272F 815C>T SKCM-US 17 79954661 79954661 single base substitution C T 3_prime_UTR_variant SKCM-US 17 79954661 79954661 single base substitution C T downstream_gene_variant SKCM-US 17 79954661 79954661 single base substitution C T exon_variant SKCM-US 17 79954661 79954661 single base substitution C T intron_variant SKCM-US 17 79954661 79954661 single base substitution C T missense_variant P120L 359C>T SKCM-US 17 79954661 79954661 single base substitution C T missense_variant P214L 641C>T SKCM-US 17 79954661 79954661 single base substitution C T missense_variant P288L 863C>T SKCM-US 17 79954661 79954661 single base substitution C T missense_variant P291L 872C>T SKCM-US 17 79954687 79954687 single base substitution G A 3_prime_UTR_variant SKCM-US 17 79954687 79954687 single base substitution G A downstream_gene_variant SKCM-US 17 79954687 79954687 single base substitution G A exon_variant SKCM-US 17 79954687 79954687 single base substitution G A intron_variant SKCM-US 17 79954687 79954687 single base substitution G A missense_variant E129K 385G>A SKCM-US 17 79954687 79954687 single base substitution G A missense_variant E223K 667G>A SKCM-US 17 79954687 79954687 single base substitution G A missense_variant E297K 889G>A SKCM-US 17 79954687 79954687 single base substitution G A missense_variant E300K 898G>A SKCM-US 17 79968740 79968740 single base substitution G A downstream_gene_variant SKCM-US 17 79968740 79968740 single base substitution G A exon_variant SKCM-US 17 79968740 79968740 single base substitution G A synonymous_variant E18E 54G>A SKCM-US 17 79968740 79968740 single base substitution G A synonymous_variant E240E 720G>A SKCM-US 17 79968740 79968740 single base substitution G A synonymous_variant E334E 1002G>A SKCM-US 17 79968740 79968740 single base substitution G A synonymous_variant E411E 1233G>A SKCM-US 17 79968740 79968740 single base substitution G A upstream_gene_variant SKCM-US 17 79973189 79973189 single base substitution C T downstream_gene_variant SKCM-US 17 79973189 79973189 single base substitution C T exon_variant SKCM-US 17 79973189 79973189 single base substitution C T intron_variant SKCM-US 17 79973189 79973189 single base substitution C T missense_variant P531L 1592C>T SKCM-US 17 79973189 79973189 single base substitution C T upstream_gene_variant SKCM-US 17 79974728 79974728 single base substitution C T exon_variant SKCM-US 17 79974728 79974728 single base substitution C T synonymous_variant A315A 945C>T SKCM-US 17 79974728 79974728 single base substitution C T synonymous_variant A434A 1302C>T SKCM-US 17 79974728 79974728 single base substitution C T synonymous_variant A486A 1458C>T SKCM-US 17 79974728 79974728 single base substitution C T synonymous_variant A580A 1740C>T SKCM-US 17 79974728 79974728 single base substitution C T synonymous_variant A93A 279C>T SKCM-US 17 79974915 79974915 single base substitution C T 3_prime_UTR_variant SKCM-US 17 79974915 79974915 single base substitution C T downstream_gene_variant SKCM-US 17 79974915 79974915 single base substitution C T exon_variant SKCM-US 17 79974915 79974915 single base substitution C T missense_variant P132L 395C>T SKCM-US 17 79974915 79974915 single base substitution C T missense_variant P473L 1418C>T SKCM-US 17 79974915 79974915 single base substitution C T missense_variant P525L 1574C>T SKCM-US 17 79974915 79974915 single base substitution C T missense_variant P619L 1856C>T STAD-US 17 79952719 79952719 single base substitution G A 3_prime_UTR_variant STAD-US 17 79952719 79952719 single base substitution G A exon_variant STAD-US 17 79952719 79952719 single base substitution G A intron_variant STAD-US 17 79952719 79952719 single base substitution G A missense_variant G113R 337G>A STAD-US 17 79952719 79952719 single base substitution G A missense_variant G130R 388G>A STAD-US 17 79952719 79952719 single base substitution G A missense_variant G133R 397G>A STAD-US 17 79952719 79952719 single base substitution G A missense_variant G56R 166G>A STAD-US 17 79952719 79952719 single base substitution G A upstream_gene_variant STAD-US 17 79954320 79954320 single base substitution C T 3_prime_UTR_variant STAD-US 17 79954320 79954320 single base substitution C T downstream_gene_variant STAD-US 17 79954320 79954320 single base substitution C T exon_variant STAD-US 17 79954320 79954320 single base substitution C T intron_variant STAD-US 17 79954320 79954320 single base substitution C T synonymous_variant P100P 300C>T STAD-US 17 79954320 79954320 single base substitution C T synonymous_variant P174P 522C>T STAD-US 17 79954320 79954320 single base substitution C T synonymous_variant P177P 531C>T STAD-US 17 79954320 79954320 single base substitution C T synonymous_variant P6P 18C>T STAD-US 17 79954545 79954545 deletion of <=200bp G - 3_prime_UTR_variant STAD-US 17 79954545 79954545 deletion of <=200bp G - downstream_gene_variant STAD-US 17 79954545 79954545 deletion of <=200bp G - exon_variant STAD-US 17 79954545 79954545 deletion of <=200bp G - frameshift_variant L175 STAD-US 17 79954545 79954545 deletion of <=200bp G - frameshift_variant L249 STAD-US 17 79954545 79954545 deletion of <=200bp G - frameshift_variant L252 STAD-US 17 79954545 79954545 deletion of <=200bp G - frameshift_variant L81 STAD-US 17 79954545 79954545 deletion of <=200bp G - intron_variant STAD-US 17 79954570 79954570 single base substitution C T 3_prime_UTR_variant STAD-US 17 79954570 79954570 single base substitution C T downstream_gene_variant STAD-US 17 79954570 79954570 single base substitution C T exon_variant STAD-US 17 79954570 79954570 single base substitution C T intron_variant STAD-US 17 79954570 79954570 single base substitution C T missense_variant P184S 550C>T STAD-US 17 79954570 79954570 single base substitution C T missense_variant P258S 772C>T STAD-US 17 79954570 79954570 single base substitution C T missense_variant P261S 781C>T STAD-US 17 79954570 79954570 single base substitution C T missense_variant P90S 268C>T STAD-US 17 79968693 79968693 single base substitution C A 3_prime_UTR_variant STAD-US 17 79968693 79968693 single base substitution C A downstream_gene_variant STAD-US 17 79968693 79968693 single base substitution C A exon_variant STAD-US 17 79968693 79968693 single base substitution C A missense_variant L225M 673C>A STAD-US 17 79968693 79968693 single base substitution C A missense_variant L319M 955C>A STAD-US 17 79968693 79968693 single base substitution C A missense_variant L396M 1186C>A STAD-US 17 79968693 79968693 single base substitution C A missense_variant L3M 7C>A STAD-US 17 79968693 79968693 single base substitution C A upstream_gene_variant STAD-US 17 79968697 79968697 single base substitution T C 3_prime_UTR_variant STAD-US 17 79968697 79968697 single base substitution T C downstream_gene_variant STAD-US 17 79968697 79968697 single base substitution T C exon_variant STAD-US 17 79968697 79968697 single base substitution T C missense_variant F226S 677T>C STAD-US 17 79968697 79968697 single base substitution T C missense_variant F320S 959T>C STAD-US 17 79968697 79968697 single base substitution T C missense_variant F397S 1190T>C STAD-US 17 79968697 79968697 single base substitution T C missense_variant F4S 11T>C STAD-US 17 79968697 79968697 single base substitution T C upstream_gene_variant STAD-US 17 79973078 79973078 deletion of <=200bp T - downstream_gene_variant STAD-US 17 79973078 79973078 deletion of <=200bp T - exon_variant STAD-US 17 79973078 79973078 deletion of <=200bp T - frameshift_variant L494 STAD-US 17 79973078 79973078 deletion of <=200bp T - intron_variant STAD-US 17 79973078 79973078 deletion of <=200bp T - upstream_gene_variant STAD-US 17 79974836 79974836 single base substitution G A exon_variant STAD-US 17 79974836 79974836 single base substitution G A missense_variant G106R 316G>A STAD-US 17 79974836 79974836 single base substitution G A missense_variant G328R 982G>A STAD-US 17 79974836 79974836 single base substitution G A missense_variant G447R 1339G>A STAD-US 17 79974836 79974836 single base substitution G A missense_variant G499R 1495G>A STAD-US 17 79974836 79974836 single base substitution G A missense_variant G593R 1777G>A THCA-US 17 79952715 79952715 single base substitution C T 3_prime_UTR_variant THCA-US 17 79952715 79952715 single base substitution C T exon_variant THCA-US 17 79952715 79952715 single base substitution C T intron_variant THCA-US 17 79952715 79952715 single base substitution C T synonymous_variant P111P 333C>T THCA-US 17 79952715 79952715 single base substitution C T synonymous_variant P128P 384C>T THCA-US 17 79952715 79952715 single base substitution C T synonymous_variant P131P 393C>T THCA-US 17 79952715 79952715 single base substitution C T synonymous_variant P54P 162C>T THCA-US 17 79952715 79952715 single base substitution C T upstream_gene_variant THCA-US 17 79966911 79966925 deletion of <=200bp AGCCCGTGGACCGGG - exon_loss_variant THCA-US 17 79966911 79966925 deletion of <=200bp AGCCCGTGGACCGGG - exon_variant THCA-US 17 79966911 79966925 deletion of <=200bp AGCCCGTGGACCGGG - frameshift_variant RPVDRE141 THCA-US 17 79966911 79966925 deletion of <=200bp AGCCCGTGGACCGGG - frameshift_variant RPVDRE235 THCA-US 17 79966911 79966925 deletion of <=200bp AGCCCGTGGACCGGG - frameshift_variant RPVDRE312 THCA-US 17 79966911 79966925 deletion of <=200bp AGCCCGTGGACCGGG - splice_acceptor_variant THCA-US 17 79966911 79966925 deletion of <=200bp AGCCCGTGGACCGGG - upstream_gene_variant UCEC-US 17 79943386 79943386 single base substitution C T 3_prime_UTR_variant UCEC-US 17 79943386 79943386 single base substitution C T downstream_gene_variant UCEC-US 17 79943386 79943386 single base substitution C T exon_variant UCEC-US 17 79943386 79943386 single base substitution C T missense_variant R16C 46C>T UCEC-US 17 79943386 79943386 single base substitution C T missense_variant R73C 217C>T UCEC-US 17 79943386 79943386 single base substitution C T missense_variant R90C 268C>T UCEC-US 17 79943386 79943386 single base substitution C T missense_variant R93C 277C>T UCEC-US 17 79954311 79954311 single base substitution C T 3_prime_UTR_variant UCEC-US 17 79954311 79954311 single base substitution C T downstream_gene_variant UCEC-US 17 79954311 79954311 single base substitution C T exon_variant UCEC-US 17 79954311 79954311 single base substitution C T intron_variant UCEC-US 17 79954311 79954311 single base substitution C T synonymous_variant C171C 513C>T UCEC-US 17 79954311 79954311 single base substitution C T synonymous_variant C174C 522C>T UCEC-US 17 79954311 79954311 single base substitution C T synonymous_variant C3C 9C>T UCEC-US 17 79954311 79954311 single base substitution C T synonymous_variant C97C 291C>T UCEC-US 17 79954420 79954420 single base substitution G A 3_prime_UTR_variant UCEC-US 17 79954420 79954420 single base substitution G A downstream_gene_variant UCEC-US 17 79954420 79954420 single base substitution G A exon_variant UCEC-US 17 79954420 79954420 single base substitution G A intron_variant UCEC-US 17 79954420 79954420 single base substitution G A missense_variant D134N 400G>A UCEC-US 17 79954420 79954420 single base substitution G A missense_variant D208N 622G>A UCEC-US 17 79954420 79954420 single base substitution G A missense_variant D211N 631G>A UCEC-US 17 79954420 79954420 single base substitution G A missense_variant D40N 118G>A UCEC-US 17 79977189 79977189 single base substitution C T downstream_gene_variant UCEC-US 17 79977781 79977781 single base substitution A C downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand I2L-P9-Tumor-Organoid COSM5364503 c.1747C>T p.L583L Substitution - coding silent 17:82016859-82016859 + TCGA-12-0707 COSM2154499 c.226C>G p.L76V Substitution - Missense 17:81983621-81983621 + TCGA-EE-A2GC-06 COSM3523749 c.1592C>T p.P531L Substitution - Missense 17:82015313-82015313 + TCGA-EM-A3OA-01 COSM3370969 c.393C>T p.P131P Substitution - coding silent 17:81994839-81994839 + TCGA-CG-5733-01 COSM4070778 c.1186C>A p.L396M Substitution - Missense 17:82010817-82010817 + CSCC-54-T COSM4555221 c.646G>A p.E216K Substitution - Missense 17:81996559-81996559 + CSCC-6-T COSM4569285 c.1646T>G p.F549C Substitution - Missense 17:82016486-82016486 + AOCS-135-3-1 COSM4139956 c.756G>A p.L252L Substitution - coding silent 17:81996669-81996669 + TCGA-DY-A0XA-01 COSM1564126 c.1087C>T p.R363W Substitution - Missense 17:82009190-82009190 + TCGA-FR-A44A-06 COSM3523747 c.1233G>A p.E411E Substitution - coding silent 17:82010864-82010864 + T204 COSM4663807 c.455G>A p.R152Q Substitution - Missense 17:81996014-81996014 + BCM501T COSM2805890 c.645G>A p.P215P Substitution - coding silent 17:81996558-81996558 + TCGA-66-2793-01 COSM708612 c.1920G>A p.L640L Substitution - coding silent 17:82017103-82017103 + MOLT-4 COSM1680162 c.352C>T p.L118F Substitution - Missense 17:81985585-81985585 + TCGA-E2-A2P6-01 COSM3821028 c.1586G>A p.G529D Substitution - Missense 17:82015307-82015307 + TCGA-AC-A23H-01 COSM3821022 c.411C>T p.V137V Substitution - coding silent 17:81994857-81994857 + TCGA-BT-A2LB-01 COSM3796235 c.662C>T p.S221L Substitution - Missense 17:81996575-81996575 + TCGA-AN-A046-01 COSM3821021 c.185C>A p.S62Y Substitution - Missense 17:81983580-81983580 + 2492709 COSM5717943 c.48C>T p.A16A Substitution - coding silent 17:81977694-81977694 + TCGA-AY-6197-01 COSM5828638 c.1850_1851insC p.E620fs*1 Insertion - Frameshift 17:82017033-82017034 + 587270 COSM1183816 c.895C>T p.R299W Substitution - Missense 17:81996808-81996808 + TCGA-G4-6320-01 COSM3691946 c.560C>T p.S187L Substitution - Missense 17:81996473-81996473 + BD124T COSM2805913 c.1633C>T p.R545W Substitution - Missense 17:82015354-82015354 + TCGA-FS-A1ZA-06 COSM3523741 c.730C>T p.P244S Substitution - Missense 17:81996643-81996643 + PD23567a COSM5777674 c.104T>C p.V35A Substitution - Missense 17:81979185-81979185 + CRC-02T COSM5454628 c.705G>A p.R235R Substitution - coding silent 17:81996618-81996618 + Au5 COSM5605552 c.1801C>T p.P601S Substitution - Missense 17:82016984-82016984 + pfg053T COSM4747546 c.1269_1300+13del45 p.? Unknown 17:82011574-82011618 + SJHYPO045 COSM4775798 c.1930+7C>T p.? Unknown 17:82017120-82017120 + TCGA-AO-A128-01 COSM3821026 c.1094G>A p.R365H Substitution - Missense 17:82009491-82009491 + PD4004a COSM159228 c.1188G>T p.L396L Substitution - coding silent 17:82010819-82010819 + TCGA-EE-A3J7-06 COSM3890688 c.1740C>T p.A580A Substitution - coding silent 17:82016852-82016852 + TCGA-BP-4963-01 COSM473553 c.519G>T p.K173N Substitution - Missense 17:81996432-81996432 + 2275_T COSM3958944 c.932G>T p.R311L Substitution - Missense 17:81996845-81996845 + B22 COSM1750419 c.548G>A p.G183E Substitution - Missense 17:81996461-81996461 + TCGA-MI-A75H-01 COSM4918393 c.1850T>A p.V617D Substitution - Missense 17:82017033-82017033 + 400 COSM4429416 c.737C>T p.S246L Substitution - Missense 17:81996650-81996650 + sysucc-311T COSM5477021 c.810G>A p.P270P Substitution - coding silent 17:81996723-81996723 + C0060T COSM4151805 c.1431A>G p.T477T Substitution - coding silent 17:82015152-82015152 + CRC-02T COSM5454630 c.1158G>T p.E386D Substitution - Missense 17:82009555-82009555 + TCGA-DA-A1IC-06 COSM3523750 c.1856C>T p.P619L Substitution - Missense 17:82017039-82017039 + CSCC-15-T COSM4506868 c.731C>T p.P244L Substitution - Missense 17:81996644-81996644 + S00842 COSM5662192 c.1159C>T p.R387C Substitution - Missense 17:82009556-82009556 + PTC-28C COSM4130835 c.1260G>C p.V420V Substitution - coding silent 17:82011565-82011565 + TCGA-CD-A4MG-01 COSM4070776 c.781C>T p.P261S Substitution - Missense 17:81996694-81996694 + TCGA-06-0155-01 COSM3403380 c.461C>T p.T154M Substitution - Missense 17:81996020-81996020 + TCGA-KK-A59V-01 COSM4878800 c.738G>A p.S246S Substitution - coding silent 17:81996651-81996651 + C99 COSM4620372 c.282C>T p.I94I Substitution - coding silent 17:81985515-81985515 + TCGA-B5-A0JY-01 COSM985999 c.277C>T p.R93C Substitution - Missense 17:81985510-81985510 + TCGA-D3-A2JH-06 COSM3523739 c.640C>T p.R214C Substitution - Missense 17:81996553-81996553 + CSCC-29-T COSM4515458 c.1124_1125CC>TT p.A375V Substitution - Missense 17:82009521-82009522 + 19 COSM5747912 c.1736C>T p.A579V Substitution - Missense 17:82016848-82016848 + PD4004a COSM159227 c.1188G>T p.L396L Substitution - coding silent 17:82010819-82010819 + TCGA-BS-A0TJ-01 COSM986001 c.631G>A p.D211N Substitution - Missense 17:81996544-81996544 + TCGA-HU-A4GT-01 COSM4070772 c.397G>A p.G133R Substitution - Missense 17:81994843-81994843 + 61 COSM5741197 c.929A>G p.E310G Substitution - Missense 17:81996842-81996842 + TCGA-EE-A3JI-06 COSM3523738 c.219T>C p.N73N Substitution - coding silent 17:81983614-81983614 + ESCC_158 COSM5646704 c.1179G>A p.L393L Substitution - coding silent 17:82010810-82010810 + TCGA-EE-A29M-06 COSM3523741 c.730C>T p.P244S Substitution - Missense 17:81996643-81996643 + ESCC_45 COSM5630308 c.603C>T p.P201P Substitution - coding silent 17:81996516-81996516 + TCGA-Q1-A73O-01 COSM4834075 c.1420G>C p.E474Q Substitution - Missense 17:82015141-82015141 + B22-Tumor COSM1750419 c.548G>A p.G183E Substitution - Missense 17:81996461-81996461 + CPCG_0184_Pr_P_P2 COSM2805876 c.206A>G p.N69S Substitution - Missense 17:81983601-81983601 + TCGA-HU-8602-01 COSM4070782 c.1777G>A p.G593R Substitution - Missense 17:82016960-82016960 + BCM723T COSM4644118 c.486C>T p.T162T Substitution - coding silent 17:81996045-81996045 + AOCS-135-8-X COSM4139958 c.761G>T p.G254V Substitution - Missense 17:81996674-81996674 + 353 COSM3720890 c.755T>A p.L252Q Substitution - Missense 17:81996668-81996668 + PD4104a COSM159226 c.1369C>G p.R457G Substitution - Missense 17:82015090-82015090 + TCGA-D1-A103-01 COSM986000 c.522C>T p.C174C Substitution - coding silent 17:81996435-81996435 + LIM2551 COSM4644118 c.486C>T p.T162T Substitution - coding silent 17:81996045-81996045 + TCGA-D5-6924-01 COSM1387380 c.240C>T p.P80P Substitution - coding silent 17:81983635-81983635 + TCGA-DG-A2KK-01 COSM4828287 c.907C>T p.P303S Substitution - Missense 17:81996820-81996820 + CSCC-56-T COSM4514010 c.958C>T p.R320W Substitution - Missense 17:82009061-82009061 + SC_9083 COSM5559846 c.1899G>T p.L633L Substitution - coding silent 17:82017082-82017082 + HCC129T COSM3717781 c.951C>G p.P317P Substitution - coding silent 17:82009054-82009054 + TCGA-CG-5721-01 COSM4070780 c.1190T>C p.F397S Substitution - Missense 17:82010821-82010821 + CSCC-31-T COSM4516860 c.239_240CC>TT p.P80L Substitution - Missense 17:81983634-81983635 + HCT116 COSM4612376 c.719delC p.F242fs*21 Deletion - Frameshift 17:81996632-81996632 + CSCC-10-T COSM4546348 c.398G>A p.G133E Substitution - Missense 17:81994844-81994844 + TCGA-HU-8602-01 COSM4070774 c.531C>T p.P177P Substitution - coding silent 17:81996444-81996444 + AOCS-135-8-X COSM4139956 c.756G>A p.L252L Substitution - coding silent 17:81996669-81996669 + TCGA-12-0707 COSM2154498 c.227T>A p.L76Q Substitution - Missense 17:81983622-81983622 + TCGA-B0-5706-01 COSM473552 c.270C>T p.N90N Substitution - coding silent 17:81983665-81983665 + TCGA-GF-A6C9-06 COSM4900212 c.898G>A p.E300K Substitution - Missense 17:81996811-81996811 + TCGA-JX-A3Q0-01 COSM4824820 c.1531C>T p.P511S Substitution - Missense 17:82015252-82015252 + TCGA-D5-6930-01 COSM3692053 c.1649C>T p.P550L Substitution - Missense 17:82016489-82016489 + PCSI_0090_Pa_P COSM3378400 c.1160G>A p.R387H Substitution - Missense 17:82009557-82009557 + Au9 COSM5607287 c.1191C>T p.F397F Substitution - coding silent 17:82010822-82010822 + 2492708 COSM5717943 c.48C>T p.A16A Substitution - coding silent 17:81977694-81977694 + PTC-7C COSM3720890 c.755T>A p.L252Q Substitution - Missense 17:81996668-81996668 + TCGA-29-1776-01 COSM1324718 c.1692C>G p.V564V Substitution - coding silent 17:82016804-82016804 + HCC129 COSM3717781 c.951C>G p.P317P Substitution - coding silent 17:82009054-82009054 + T20 COSM3720890 c.755T>A p.L252Q Substitution - Missense 17:81996668-81996668 + TCGA-FG-8188-01 COSM3970444 c.338C>G p.T113S Substitution - Missense 17:81985571-81985571 + BCM723T COSM4644118 c.486C>T p.T162T Substitution - coding silent 17:81996045-81996045 + Pat_04_A COSM3668082 c.601C>T p.P201S Substitution - Missense 17:81996514-81996514 + CSCC-31-T COSM4471585 c.1728C>T p.S576S Substitution - coding silent 17:82016840-82016840 + PT21_2 COSM5901971 c.1191C>A p.F397L Substitution - Missense 17:82010822-82010822 + TCGA-EE-A2MR-06 COSM3523745 c.872C>T p.P291L Substitution - Missense 17:81996785-81996785 + ME011T COSM224534 c.1307C>T p.T436I Substitution - Missense 17:82012237-82012237 + CHC320T COSM3668082 c.601C>T p.P201S Substitution - Missense 17:81996514-81996514 + TCGA-EE-A3JA-06 COSM3523743 c.815C>T p.S272F Substitution - Missense 17:81996728-81996728 + AOCS-094-1-1 COSM4139960 c.1779G>A p.G593G Substitution - coding silent 17:82016962-82016962 + CSCC-18-T COSM4471585 c.1728C>T p.S576S Substitution - coding silent 17:82016840-82016840 + 8047838 COSM3388313 c.944G>A p.R315Q Substitution - Missense 17:82009047-82009047 + TCGA-39-5039-01 COSM708613 c.1730C>T p.P577L Substitution - Missense 17:82016842-82016842 + YUOMEGA COSM5387679 c.1788C>T p.S596S Substitution - coding silent 17:82016971-82016971 + TCGA-ER-A19F-06 COSM3890686 c.564A>G p.S188S Substitution - coding silent 17:81996477-81996477 + I2L-P19Tb-Tumor-Biopsy COSM5364120 c.247C>T p.R83W Substitution - Missense 17:81983642-81983642 + 01-P034 COSM4580258 c.875_880delAGCAGG p.Q297_E298delQE Deletion - In frame 17:81996788-81996793 + YUKAT COSM5387677 c.767C>T p.P256L Substitution - Missense 17:81996680-81996680 + TCGA-DK-A3WW-01 COSM3796234 c.177C>T p.L59L Substitution - coding silent 17:81983572-81983572 + CHC320T COSM3668082 c.601C>T p.P201S Substitution - Missense 17:81996514-81996514 + 107714 COSM95764 c.1455G>A p.A485A Substitution - coding silent 17:82016849-82016849 + TCGA-F5-6814-01 COSM2805894 c.1032C>A p.F344L Substitution - Missense 17:82009135-82009135 + T1154 COSM4663809 c.1851delC p.P619fs*11 Deletion - Frameshift 17:82017034-82017034 + I2L-P19Tb-Tumor-Organoid COSM5364120 c.247C>T p.R83W Substitution - Missense 17:81983642-81983642 + BCM501T COSM2805890 c.645G>A p.P215P Substitution - coding silent 17:81996558-81996558 + 2171667 COSM4423188 c.215A>C p.N72T Substitution - Missense 17:81983610-81983610 + TCGA-D8-A27G-01 COSM3821024 c.1014G>A p.A338A Substitution - coding silent 17:82009117-82009117 + CSCC-16-T COSM3821026 c.1094G>A p.R365H Substitution - Missense 17:82009491-82009491 + 2492710 COSM5717943 c.48C>T p.A16A Substitution - coding silent 17:81977694-81977694 + PCSI_0090_Pa_X COSM3378400 c.1160G>A p.R387H Substitution - Missense 17:82009557-82009557 + S02243 COSM5677730 c.397G>T p.G133W Substitution - Missense 17:81994843-81994843 + AOCS-135-3-1 COSM4139958 c.761G>T p.G254V Substitution - Missense 17:81996674-81996674 + PTC-54C COSM4130837 c.1743T>C p.D581D Substitution - coding silent 17:82016855-82016855 + UM-SCC-2 COSM2805880 c.283G>T p.A95S Substitution - Missense 17:81985516-81985516 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.298351 17q25.3 606236 2403631|CGAP|BC006152|C/T|non-coding||1632|Validated; 2403631|CGAP|BC018722|C/T|coding|Asp487Asp|1462|Validated; 2403635|CGAP|BC006152|G/T|coding|Gly24Cys|352|Candidate; 2403635|CGAP|BC018722|G/T|coding|Gly101Cys|302|Candidate; 1526716|dbSNP|BC006152|C/T|non-coding||1632|Validated; 1526716|dbSNP|BC018722|C/T|coding|Asp487Asp|1462|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G IntronicSNV . c.1354-1126A>G 17 79973226 STAD A G Missense p.T135A c.403A>G 17 79952725 BRCA A G Synonymous p.S188S c.564A>G 17 79954353 CM C A Missense p.L396M c.1186C>A 17 79968693 STAD C G IntronicSNV . c.1354-1386C>G 17 79972966 BRCA C G Missense p.Q105E c.313C>G 17 79943422 HNSC C G Missense p.T113S c.338C>G 17 79943447 LGG C T Missense p.P244S c.730C>T 17 79954519 CM C T Missense p.P312S c.934C>T 17 79966913 STAD C T Missense p.P483L c.1448C>T 17 79974718 LUSC C T Missense p.P525L c.1574C>T 17 79974915 CM C T Missense p.R214C c.640C>T 17 79954429 CM C T Missense p.S221L c.662C>T 17 79954451 BLCA C T Missense p.S272F c.815C>T 17 79954604 CM C T Missense p.T154M c.461C>T 17 79953896 GBM C T Missense p.T436I c.1307C>T 17 79970113 CM C T Synonymous p.A486A c.1458C>T 17 79974728 CM C T Synonymous p.N90N c.270C>T 17 79941541 RCCC C T Synonymous p.P131P c.393C>T 17 79952715 THCA G A IntronicSNV . c.1354-1167G>A 17 79973185 STAD G A Missense p.D211N c.631G>A 17 79954420 UCEC G A Missense p.G87E c.260G>A 17 79941531 CM G A Synonymous p.L546L c.1638G>A 17 79974979 LUSC G C Missense p.V243L c.727G>C 17 79954516 HNSC G C Synonymous p.L185L c.555G>C 17 79954344 HNSC GG AA SpliceAcceptorBlockSubstitution . c.1406-1_1406delinsAA 17 79974675 CM G T Missense p.K173N c.519G>T 17 79954308 RCCC G T Missense p.V324L c.970G>T 17 79966949 HNSC G T Synonymous p.L396L c.1188G>T 17 79968695 BRCA