Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 17 37427047 37427047 + Splice_Site SNP A A T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 g.chr17:37427047A>T c.e11+1 BLCA 17 37431242 37431242 + Missense_Mutation SNP G G C TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 g.chr17:37431242G>C c.808C>G c.(808-810)Cag>Gag p.Q270E BLCA 17 37457256 37457256 + Missense_Mutation SNP C C G TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 g.chr17:37457256C>G c.232G>C c.(232-234)Gag>Cag p.E78Q BLCA 17 37457266 37457266 + Silent SNP C C T TCGA-GC-A6I3-01A-11D-A31L-08 TCGA-GC-A6I3-10A-01D-A31J-08 g.chr17:37457266C>T c.222G>A c.(220-222)caG>caA p.Q74Q CESC 17 37421664 37421664 + Nonsense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 g.chr17:37421664G>A c.976C>T c.(976-978)Cga>Tga p.R326* CESC 17 37499465 37499465 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chr17:37499465G>C c.72C>G c.(70-72)atC>atG p.I24M CESC 17 37499487 37499487 + Nonsense_Mutation SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 g.chr17:37499487G>C c.50C>G c.(49-51)tCa>tGa p.S17* CESC 17 37557641 37557641 + Silent SNP C C T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 g.chr17:37557641C>T c.15G>A c.(13-15)gtG>gtA p.V5V COAD 17 37417765 37417765 + Frame_Shift_Del DEL G G - TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr17:37417765delG c.1259delC c.(1258-1260)ccafs p.P420fs COAD 17 37417783 37417783 + Missense_Mutation SNP G G A TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr17:37417783G>A c.1241C>T c.(1240-1242)gCa>gTa p.A414V COAD 17 37420430 37420430 + Missense_Mutation SNP T T A TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr17:37420430T>A c.1201A>T c.(1201-1203)Agg>Tgg p.R401W COAD 17 37420484 37420484 + Missense_Mutation SNP G G A TCGA-AA-A00K-01A-02W-A005-10 TCGA-AA-A00K-10A-01W-A005-10 g.chr17:37420484G>A c.1147C>T c.(1147-1149)Cgg>Tgg p.R383W COAD 17 37420535 37420535 + Silent SNP G G A TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr17:37420535G>A c.1096C>T c.(1096-1098)Cta>Tta p.L366L COAD 17 37420615 37420615 + Missense_Mutation SNP G G A TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr17:37420615G>A c.1016C>T c.(1015-1017)aCa>aTa p.T339I COAD 17 37431306 37431306 + Silent SNP C C T TCGA-AA-3518-01A-02W-0833-10 TCGA-AA-3518-10A-01W-0833-10 g.chr17:37431306C>T c.744G>A c.(742-744)aaG>aaA p.K248K COAD 17 37437709 37437709 + Missense_Mutation SNP T T C TCGA-D5-6924-01A-11D-1924-10 TCGA-D5-6924-10A-01D-1924-10 g.chr17:37437709T>C c.629A>G c.(628-630)gAt>gGt p.D210G COAD 17 37455310 37455310 + Nonsense_Mutation SNP G G A TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr17:37455310G>A c.262C>T c.(262-264)Cga>Tga p.R88* COADREAD 17 37417765 37417765 + Frame_Shift_Del DEL G G - TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr17:37417765delG c.1259delC c.(1258-1260)ccafs p.P420fs COADREAD 17 37417783 37417783 + Missense_Mutation SNP G G A TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr17:37417783G>A c.1241C>T c.(1240-1242)gCa>gTa p.A414V COADREAD 17 37420430 37420430 + Missense_Mutation SNP T T A TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr17:37420430T>A c.1201A>T c.(1201-1203)Agg>Tgg p.R401W COADREAD 17 37420484 37420484 + Missense_Mutation SNP G G A TCGA-AA-A00K-01A-02W-A005-10 TCGA-AA-A00K-10A-01W-A005-10 g.chr17:37420484G>A c.1147C>T c.(1147-1149)Cgg>Tgg p.R383W COADREAD 17 37420535 37420535 + Silent SNP G G A TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr17:37420535G>A c.1096C>T c.(1096-1098)Cta>Tta p.L366L COADREAD 17 37420615 37420615 + Missense_Mutation SNP G G A TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr17:37420615G>A c.1016C>T c.(1015-1017)aCa>aTa p.T339I COADREAD 17 37431306 37431306 + Silent SNP C C T TCGA-AA-3518-01A-02W-0833-10 TCGA-AA-3518-10A-01W-0833-10 g.chr17:37431306C>T c.744G>A c.(742-744)aaG>aaA p.K248K COADREAD 17 37437709 37437709 + Missense_Mutation SNP T T C TCGA-D5-6924-01A-11D-1924-10 TCGA-D5-6924-10A-01D-1924-10 g.chr17:37437709T>C c.629A>G c.(628-630)gAt>gGt p.D210G COADREAD 17 37455310 37455310 + Nonsense_Mutation SNP G G A TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr17:37455310G>A c.262C>T c.(262-264)Cga>Tga p.R88* DLBC 17 37557627 37557627 + Missense_Mutation SNP T T G TCGA-GS-A9TZ-01A-11D-A38X-10 TCGA-GS-A9TZ-10A-01D-A38X-10 g.chr17:37557627T>G c.29A>C c.(28-30)aAg>aCg p.K10T ESCA 17 37420506 37420506 + Missense_Mutation SNP C C G TCGA-V5-AASW-01A-11D-A403-09 TCGA-V5-AASW-10A-01D-A403-09 g.chr17:37420506C>G c.1125G>C c.(1123-1125)ttG>ttC p.L375F ESCA 17 37437666 37437666 + Silent SNP C C T TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 g.chr17:37437666C>T c.672G>A c.(670-672)gtG>gtA p.V224V ESCA 17 37441733 37441733 + Silent SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 g.chr17:37441733C>T c.492G>A c.(490-492)ctG>ctA p.L164L GBM 17 37431297 37431297 + Silent SNP G G T TCGA-06-2561-01A-02D-1494-08 TCGA-06-2561-10A-01D-1494-08 g.chr17:37431297G>T c.753C>A c.(751-753)tcC>tcA p.S251S GBMLGG 17 37420470 37420471 + Frame_Shift_Del DEL AT AT - TCGA-HT-8564-01A-11D-2395-08 TCGA-HT-8564-10A-01D-2396-08 g.chr17:37420470_37420471delAT c.1160_1161delAT c.(1159-1161)tatfs p.Y387fs GBMLGG 17 37431297 37431297 + Silent SNP G G T TCGA-06-2561-01A-02D-1494-08 TCGA-06-2561-10A-01D-1494-08 g.chr17:37431297G>T c.753C>A c.(751-753)tcC>tcA p.S251S GBMLGG 17 37455300 37455300 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:37455300C>T c.272G>A c.(271-273)gGc>gAc p.G91D HNSC 17 37421664 37421664 + Nonsense_Mutation SNP G G A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 g.chr17:37421664G>A c.976C>T c.(976-978)Cga>Tga p.R326* HNSC 17 37431248 37431248 + Silent SNP G G A TCGA-TN-A7HL-01A-11D-A34J-08 TCGA-TN-A7HL-10A-01D-A34M-08 g.chr17:37431248G>A c.802C>T c.(802-804)Cta>Tta p.L268L HNSC 17 37453402 37453402 + Missense_Mutation SNP C C G TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 g.chr17:37453402C>G c.376G>C c.(376-378)Ggg>Cgg p.G126R HNSC 17 37499496 37499496 + Splice_Site SNP T T C TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 g.chr17:37499496T>C c.e2-2 LGG 17 37420470 37420471 + Frame_Shift_Del DEL AT AT - TCGA-HT-8564-01A-11D-2395-08 TCGA-HT-8564-10A-01D-2396-08 g.chr17:37420470_37420471delAT c.1160_1161delAT c.(1159-1161)tatfs p.Y387fs LGG 17 37455300 37455300 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:37455300C>T c.272G>A c.(271-273)gGc>gAc p.G91D LIHC 17 37421707 37421707 + Splice_Site SNP C C A TCGA-DD-A4NJ-01A-11D-A27I-10 TCGA-DD-A4NJ-10A-01D-A27I-10 g.chr17:37421707C>A c.e13-1 LUAD 17 37425091 37425091 + Missense_Mutation SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 g.chr17:37425091C>T c.922G>A c.(922-924)Gag>Aag p.E308K LUAD 17 37437684 37437684 + Silent SNP T T A TCGA-50-5049-01A-01D-1625-08 TCGA-50-5049-10A-01D-1625-08 g.chr17:37437684T>A c.654A>T c.(652-654)gcA>gcT p.A218A LUAD 17 37441767 37441767 + Missense_Mutation SNP C C A TCGA-MP-A4TK-01A-11D-A24P-08 TCGA-MP-A4TK-10A-01D-A24P-08 g.chr17:37441767C>A c.458G>T c.(457-459)tGt>tTt p.C153F LUAD 17 37453402 37453402 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 g.chr17:37453402C>A c.376G>T c.(376-378)Ggg>Tgg p.G126W LUAD 17 37455265 37455265 + Nonsense_Mutation SNP C C A TCGA-55-A48X-01A-11D-A24D-08 TCGA-55-A48X-10A-01D-A24F-08 g.chr17:37455265C>A c.307G>T c.(307-309)Gga>Tga p.G103* LUAD 17 37457329 37457329 + Splice_Site SNP C C A TCGA-05-4427-01A-21D-1855-08 TCGA-05-4427-10A-01D-1855-08 g.chr17:37457329C>A c.e4-1 LUSC 17 37420578 37420578 + Nonsense_Mutation SNP G G T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 g.chr17:37420578G>T c.1053C>A c.(1051-1053)tgC>tgA p.C351* LUSC 17 37425100 37425100 + Missense_Mutation SNP C C A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 g.chr17:37425100C>A c.913G>T c.(913-915)Gac>Tac p.D305Y LUSC 17 37439059 37439059 + Missense_Mutation SNP C C T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 g.chr17:37439059C>T c.544G>A c.(544-546)Gta>Ata p.V182I LUSC 17 37455251 37455251 + Missense_Mutation SNP A A T TCGA-63-5128-01A-01D-1441-08 TCGA-63-5128-10A-01D-1441-08 g.chr17:37455251A>T c.321T>A c.(319-321)aaT>aaA p.N107K OV 17 37425079 37425079 + Splice_Site SNP C C T TCGA-23-1023-01A-03W-0484-10 TCGA-23-1023-10A-01W-0484-10 g.chr17:37425079C>T c.e12+1 PAAD 17 37420484 37420484 + Missense_Mutation SNP G G A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 g.chr17:37420484G>A c.1147C>T c.(1147-1149)Cgg>Tgg p.R383W PCPG 17 37420555 37420555 + Missense_Mutation SNP A A G TCGA-RT-A6YA-01A-12D-A35D-08 TCGA-RT-A6YA-10B-01D-A35B-08 g.chr17:37420555A>G c.1076T>C c.(1075-1077)aTt>aCt p.I359T PRAD 17 37431355 37431356 + Splice_Site INS - - A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr17:37431355_37431356insA c.e10-2 SKCM 17 37417768 37417768 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 g.chr17:37417768G>A c.1256C>T c.(1255-1257)cCc>cTc p.P419L SKCM 17 37420601 37420601 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr17:37420601G>A c.1030C>T c.(1030-1032)Cgt>Tgt p.R344C SKCM 17 37420601 37420601 + Missense_Mutation SNP G G A TCGA-D9-A1JX-06A-11D-A19A-08 TCGA-D9-A1JX-10A-01D-A19A-08 g.chr17:37420601G>A c.1030C>T c.(1030-1032)Cgt>Tgt p.R344C SKCM 17 37439089 37439089 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 g.chr17:37439089C>T c.514G>A c.(514-516)Gag>Aag p.E172K SKCM 17 37441796 37441796 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 g.chr17:37441796G>A c.429C>T c.(427-429)tcC>tcT p.S143S SKCM 17 37455277 37455277 + Missense_Mutation SNP G G A TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr17:37455277G>A c.295C>T c.(295-297)Cgt>Tgt p.R99C

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 17 37427047 37427047 single base substitution A T splice_donor_variant BLCA-US 17 37431242 37431242 single base substitution G C missense_variant Q238E 712C>G BLCA-US 17 37431242 37431242 single base substitution G C missense_variant Q270E 808C>G BLCA-US 17 37431242 37431242 single base substitution G C missense_variant Q272E 814C>G BLCA-US 17 37431242 37431242 single base substitution G C upstream_gene_variant BRCA-EU 17 37411473 37411473 single base substitution G A downstream_gene_variant BRCA-EU 17 37411677 37411677 single base substitution G A downstream_gene_variant BRCA-EU 17 37412687 37412687 single base substitution G A downstream_gene_variant BRCA-EU 17 37413268 37413268 single base substitution C T downstream_gene_variant BRCA-EU 17 37414117 37414117 single base substitution C T downstream_gene_variant BRCA-EU 17 37414622 37414622 deletion of <=200bp A - downstream_gene_variant BRCA-EU 17 37416057 37416057 single base substitution G T downstream_gene_variant BRCA-EU 17 37416057 37416057 single base substitution G T intron_variant BRCA-EU 17 37417801 37417801 single base substitution T C downstream_gene_variant BRCA-EU 17 37417801 37417801 single base substitution T C missense_variant K376R 1127A>G BRCA-EU 17 37417801 37417801 single base substitution T C missense_variant K408R 1223A>G BRCA-EU 17 37417801 37417801 single base substitution T C missense_variant K410R 1229A>G BRCA-EU 17 37418336 37418336 deletion of <=200bp T - downstream_gene_variant BRCA-EU 17 37418336 37418336 deletion of <=200bp T - intron_variant BRCA-EU 17 37418336 37418336 single base substitution T G downstream_gene_variant BRCA-EU 17 37418336 37418336 single base substitution T G intron_variant BRCA-EU 17 37418660 37418660 single base substitution A C downstream_gene_variant BRCA-EU 17 37418660 37418660 single base substitution A C intron_variant BRCA-EU 17 37418726 37418726 single base substitution A C downstream_gene_variant BRCA-EU 17 37418726 37418726 single base substitution A C intron_variant BRCA-EU 17 37418944 37418944 single base substitution A T downstream_gene_variant BRCA-EU 17 37418944 37418944 single base substitution A T intron_variant BRCA-EU 17 37418963 37418963 single base substitution C T downstream_gene_variant BRCA-EU 17 37418963 37418963 single base substitution C T intron_variant BRCA-EU 17 37419073 37419073 single base substitution A C downstream_gene_variant BRCA-EU 17 37419073 37419073 single base substitution A C intron_variant BRCA-EU 17 37419100 37419100 single base substitution A C downstream_gene_variant BRCA-EU 17 37419100 37419100 single base substitution A C intron_variant BRCA-EU 17 37419134 37419134 single base substitution A G downstream_gene_variant BRCA-EU 17 37419134 37419134 single base substitution A G intron_variant BRCA-EU 17 37419187 37419187 single base substitution A G downstream_gene_variant BRCA-EU 17 37419187 37419187 single base substitution A G intron_variant BRCA-EU 17 37419189 37419189 single base substitution A G downstream_gene_variant BRCA-EU 17 37419189 37419189 single base substitution A G intron_variant BRCA-EU 17 37419205 37419205 single base substitution A C downstream_gene_variant BRCA-EU 17 37419205 37419205 single base substitution A C intron_variant BRCA-EU 17 37419489 37419489 single base substitution C T downstream_gene_variant BRCA-EU 17 37419489 37419489 single base substitution C T intron_variant BRCA-EU 17 37420364 37420364 deletion of <=200bp A - 3_prime_UTR_variant BRCA-EU 17 37420364 37420364 deletion of <=200bp A - intron_variant BRCA-EU 17 37420661 37420661 single base substitution G A intron_variant BRCA-EU 17 37420792 37420792 single base substitution G T intron_variant BRCA-EU 17 37421942 37421942 single base substitution T A intron_variant BRCA-EU 17 37422023 37422023 single base substitution C G intron_variant BRCA-EU 17 37422098 37422098 single base substitution C G intron_variant BRCA-EU 17 37422479 37422479 single base substitution T G intron_variant BRCA-EU 17 37423908 37423908 deletion of <=200bp C - intron_variant BRCA-EU 17 37425367 37425367 single base substitution G A intron_variant BRCA-EU 17 37427229 37427229 single base substitution G A intron_variant BRCA-EU 17 37427229 37427229 single base substitution G A upstream_gene_variant BRCA-EU 17 37428636 37428636 single base substitution T A intron_variant BRCA-EU 17 37428636 37428636 single base substitution T A upstream_gene_variant BRCA-EU 17 37429556 37429556 single base substitution A G intron_variant BRCA-EU 17 37429556 37429556 single base substitution A G upstream_gene_variant BRCA-EU 17 37430423 37430423 single base substitution C G intron_variant BRCA-EU 17 37430423 37430423 single base substitution C G upstream_gene_variant BRCA-EU 17 37431593 37431593 single base substitution G A intron_variant BRCA-EU 17 37431593 37431593 single base substitution G A upstream_gene_variant BRCA-EU 17 37431630 37431630 single base substitution C G intron_variant BRCA-EU 17 37431630 37431630 single base substitution C G upstream_gene_variant BRCA-EU 17 37431783 37431783 single base substitution G A intron_variant BRCA-EU 17 37431783 37431783 single base substitution G A upstream_gene_variant BRCA-EU 17 37431964 37431964 single base substitution C T intron_variant BRCA-EU 17 37431964 37431964 single base substitution C T upstream_gene_variant BRCA-EU 17 37432999 37432999 single base substitution A C intron_variant BRCA-EU 17 37434159 37434159 single base substitution C A intron_variant BRCA-EU 17 37435365 37435365 single base substitution C G intron_variant BRCA-EU 17 37436906 37436906 single base substitution A G intron_variant BRCA-EU 17 37439566 37439566 single base substitution C A intron_variant BRCA-EU 17 37439755 37439755 single base substitution C T intron_variant BRCA-EU 17 37440028 37440028 single base substitution G C intron_variant BRCA-EU 17 37440425 37440425 single base substitution T G intron_variant BRCA-EU 17 37440821 37440821 single base substitution G C intron_variant BRCA-EU 17 37441649 37441649 single base substitution C T intron_variant BRCA-EU 17 37441666 37441666 single base substitution C G intron_variant BRCA-EU 17 37441921 37441921 single base substitution T C intron_variant BRCA-EU 17 37442757 37442757 single base substitution T C intron_variant BRCA-EU 17 37443158 37443158 deletion of <=200bp A - intron_variant BRCA-EU 17 37443691 37443691 single base substitution C A intron_variant BRCA-EU 17 37443695 37443695 single base substitution C G intron_variant BRCA-EU 17 37444513 37444513 single base substitution G A intron_variant BRCA-EU 17 37444657 37444657 single base substitution G T intron_variant BRCA-EU 17 37445022 37445022 single base substitution C T intron_variant BRCA-EU 17 37445033 37445033 single base substitution A C intron_variant BRCA-EU 17 37447000 37447000 single base substitution G C intron_variant BRCA-EU 17 37447201 37447201 single base substitution G C intron_variant BRCA-EU 17 37447233 37447233 single base substitution A T intron_variant BRCA-EU 17 37448581 37448581 single base substitution C T intron_variant BRCA-EU 17 37449372 37449372 single base substitution T G intron_variant BRCA-EU 17 37449672 37449672 single base substitution C A intron_variant BRCA-EU 17 37449777 37449777 single base substitution G C intron_variant BRCA-EU 17 37449958 37449958 single base substitution G A intron_variant BRCA-EU 17 37449959 37449959 single base substitution C T intron_variant BRCA-EU 17 37450613 37450613 single base substitution C T intron_variant BRCA-EU 17 37450909 37450909 single base substitution G A intron_variant BRCA-EU 17 37451140 37451140 single base substitution C T intron_variant BRCA-EU 17 37454886 37454886 single base substitution G C intron_variant BRCA-EU 17 37456579 37456579 single base substitution C T intron_variant BRCA-EU 17 37457676 37457676 single base substitution C T intron_variant BRCA-EU 17 37460086 37460086 single base substitution C T intron_variant BRCA-EU 17 37460387 37460387 single base substitution T A intron_variant BRCA-EU 17 37461412 37461412 deletion of <=200bp A - intron_variant BRCA-EU 17 37462766 37462766 single base substitution T A intron_variant BRCA-EU 17 37462887 37462887 single base substitution C G intron_variant BRCA-EU 17 37464224 37464224 single base substitution A C intron_variant BRCA-EU 17 37464822 37464822 single base substitution T A intron_variant BRCA-EU 17 37465181 37465181 single base substitution T C intron_variant BRCA-EU 17 37465276 37465276 single base substitution G C intron_variant BRCA-EU 17 37465604 37465604 single base substitution G C intron_variant BRCA-EU 17 37466273 37466273 single base substitution G A intron_variant BRCA-EU 17 37466666 37466666 single base substitution C T intron_variant BRCA-EU 17 37466847 37466847 single base substitution C T intron_variant BRCA-EU 17 37467437 37467437 single base substitution C A intron_variant BRCA-EU 17 37467634 37467634 single base substitution C T intron_variant BRCA-EU 17 37467884 37467884 single base substitution C T intron_variant BRCA-EU 17 37468164 37468164 single base substitution G A intron_variant BRCA-EU 17 37468706 37468706 single base substitution C T intron_variant BRCA-EU 17 37469240 37469240 single base substitution C T intron_variant BRCA-EU 17 37469831 37469831 single base substitution G C intron_variant BRCA-EU 17 37469906 37469906 single base substitution G C intron_variant BRCA-EU 17 37470352 37470352 single base substitution C T intron_variant BRCA-EU 17 37470396 37470396 single base substitution G A intron_variant BRCA-EU 17 37470650 37470650 single base substitution C T intron_variant BRCA-EU 17 37471641 37471641 single base substitution A T intron_variant BRCA-EU 17 37471992 37471992 single base substitution C T intron_variant BRCA-EU 17 37472122 37472122 insertion of <=200bp - GAGAGC intron_variant BRCA-EU 17 37472122 37472122 insertion of <=200bp - GC intron_variant BRCA-EU 17 37472133 37472133 single base substitution G C intron_variant BRCA-EU 17 37473025 37473025 single base substitution G A intron_variant BRCA-EU 17 37473115 37473115 single base substitution G A intron_variant BRCA-EU 17 37474465 37474465 single base substitution T C intron_variant BRCA-EU 17 37474466 37474466 single base substitution T A intron_variant BRCA-EU 17 37474815 37474815 single base substitution G A intron_variant BRCA-EU 17 37476057 37476057 single base substitution G A intron_variant BRCA-EU 17 37476207 37476207 single base substitution G T intron_variant BRCA-EU 17 37476444 37476444 single base substitution T G intron_variant BRCA-EU 17 37479521 37479521 single base substitution C G intron_variant BRCA-EU 17 37480825 37480825 single base substitution T A intron_variant BRCA-EU 17 37480924 37480924 deletion of <=200bp T - intron_variant BRCA-EU 17 37481110 37481110 single base substitution G A intron_variant BRCA-EU 17 37481271 37481271 single base substitution G C intron_variant BRCA-EU 17 37483880 37483880 single base substitution T A intron_variant BRCA-EU 17 37484140 37484140 single base substitution C T intron_variant BRCA-EU 17 37484276 37484276 single base substitution G A intron_variant BRCA-EU 17 37484307 37484307 single base substitution C G intron_variant BRCA-EU 17 37484445 37484445 single base substitution G T intron_variant BRCA-EU 17 37485367 37485367 deletion of <=200bp A - intron_variant BRCA-EU 17 37485575 37485575 single base substitution T A intron_variant BRCA-EU 17 37485948 37485948 insertion of <=200bp - A intron_variant BRCA-EU 17 37486082 37486082 single base substitution T C intron_variant BRCA-EU 17 37486423 37486423 single base substitution G C intron_variant BRCA-EU 17 37486887 37486887 single base substitution G C intron_variant BRCA-EU 17 37487094 37487094 single base substitution G C intron_variant BRCA-EU 17 37487156 37487156 single base substitution G C intron_variant BRCA-EU 17 37487514 37487514 single base substitution C T intron_variant BRCA-EU 17 37487636 37487636 single base substitution G C intron_variant BRCA-EU 17 37488045 37488045 single base substitution A T intron_variant BRCA-EU 17 37488215 37488215 single base substitution G C intron_variant BRCA-EU 17 37488486 37488486 single base substitution G C intron_variant BRCA-EU 17 37490634 37490634 single base substitution C T intron_variant BRCA-EU 17 37490688 37490693 deletion of <=200bp CCCTCT - intron_variant BRCA-EU 17 37490695 37490695 single base substitution C T intron_variant BRCA-EU 17 37490735 37490735 single base substitution T A intron_variant BRCA-EU 17 37491718 37491718 single base substitution C A intron_variant BRCA-EU 17 37492087 37492087 single base substitution G C intron_variant BRCA-EU 17 37492367 37492367 single base substitution G C intron_variant BRCA-EU 17 37493646 37493646 single base substitution C G intron_variant BRCA-EU 17 37493682 37493682 single base substitution G A intron_variant BRCA-EU 17 37493738 37493738 single base substitution C T intron_variant BRCA-EU 17 37494063 37494063 single base substitution A G intron_variant BRCA-EU 17 37494074 37494074 single base substitution G A intron_variant BRCA-EU 17 37494778 37494778 single base substitution G A intron_variant BRCA-EU 17 37495440 37495440 deletion of <=200bp G - intron_variant BRCA-EU 17 37496776 37496776 single base substitution C T intron_variant BRCA-EU 17 37497637 37497637 deletion of <=200bp A - intron_variant BRCA-EU 17 37497664 37497664 single base substitution C T intron_variant BRCA-EU 17 37497963 37497963 single base substitution G A intron_variant BRCA-EU 17 37498532 37498532 single base substitution C T intron_variant BRCA-EU 17 37499070 37499070 single base substitution G C intron_variant BRCA-EU 17 37499406 37499406 single base substitution A C intron_variant BRCA-EU 17 37499439 37499441 deletion of <=200bp AGG - disruptive_inframe_deletion LL32L BRCA-EU 17 37499439 37499441 deletion of <=200bp AGG - disruptive_inframe_deletion LL34L BRCA-EU 17 37499882 37499882 single base substitution G A intron_variant BRCA-EU 17 37500151 37500151 single base substitution C T intron_variant BRCA-EU 17 37500983 37500983 single base substitution C T intron_variant BRCA-EU 17 37501050 37501050 single base substitution A T intron_variant BRCA-EU 17 37501295 37501295 single base substitution C A intron_variant BRCA-EU 17 37502045 37502045 single base substitution C T intron_variant BRCA-EU 17 37503088 37503088 single base substitution C G intron_variant BRCA-EU 17 37503164 37503164 single base substitution C G intron_variant BRCA-EU 17 37503174 37503174 single base substitution C G intron_variant BRCA-EU 17 37503205 37503205 single base substitution C G intron_variant BRCA-EU 17 37503326 37503326 single base substitution C G intron_variant BRCA-EU 17 37503371 37503371 single base substitution C G intron_variant BRCA-EU 17 37503470 37503470 single base substitution C T intron_variant BRCA-EU 17 37503478 37503478 single base substitution C G intron_variant BRCA-EU 17 37503503 37503503 single base substitution C G intron_variant BRCA-EU 17 37503802 37503802 single base substitution C G intron_variant BRCA-EU 17 37503822 37503822 single base substitution C G intron_variant BRCA-EU 17 37503912 37503912 single base substitution C T intron_variant BRCA-EU 17 37504003 37504003 single base substitution C A intron_variant BRCA-EU 17 37504011 37504011 single base substitution C G intron_variant BRCA-EU 17 37504188 37504188 single base substitution C G intron_variant BRCA-EU 17 37504228 37504228 single base substitution C T intron_variant BRCA-EU 17 37504290 37504290 single base substitution C A intron_variant BRCA-EU 17 37505276 37505276 single base substitution G A intron_variant BRCA-EU 17 37505966 37505966 single base substitution G C intron_variant BRCA-EU 17 37506205 37506205 deletion of <=200bp G - intron_variant BRCA-EU 17 37506408 37506408 insertion of <=200bp - A intron_variant BRCA-EU 17 37506643 37506643 single base substitution G C intron_variant BRCA-EU 17 37511739 37511739 single base substitution T G intron_variant BRCA-EU 17 37511879 37511879 single base substitution C A intron_variant BRCA-EU 17 37513063 37513063 single base substitution C A intron_variant BRCA-EU 17 37513169 37513169 single base substitution G A intron_variant BRCA-EU 17 37513480 37513480 single base substitution C A intron_variant BRCA-EU 17 37515428 37515428 single base substitution A T intron_variant BRCA-EU 17 37515977 37515977 single base substitution C T intron_variant BRCA-EU 17 37518684 37518684 single base substitution C G intron_variant BRCA-EU 17 37518827 37518827 single base substitution C T intron_variant BRCA-EU 17 37519123 37519123 single base substitution G A intron_variant BRCA-EU 17 37519398 37519398 single base substitution G T intron_variant BRCA-EU 17 37520036 37520036 single base substitution C A intron_variant BRCA-EU 17 37520037 37520037 single base substitution C A intron_variant BRCA-EU 17 37520039 37520039 deletion of <=200bp G - intron_variant BRCA-EU 17 37520414 37520414 single base substitution A G intron_variant BRCA-EU 17 37521300 37521300 single base substitution T C intron_variant BRCA-EU 17 37521484 37521484 single base substitution C A intron_variant BRCA-EU 17 37521555 37521555 single base substitution T G intron_variant BRCA-EU 17 37522252 37522252 single base substitution T A intron_variant BRCA-EU 17 37522358 37522358 single base substitution G T intron_variant BRCA-EU 17 37522759 37522759 single base substitution C A intron_variant BRCA-EU 17 37523919 37523919 single base substitution C G intron_variant BRCA-EU 17 37524013 37524013 insertion of <=200bp - TA intron_variant BRCA-EU 17 37524662 37524662 single base substitution T C intron_variant BRCA-EU 17 37525333 37525333 single base substitution G C intron_variant BRCA-EU 17 37525927 37525927 single base substitution G T intron_variant BRCA-EU 17 37527165 37527165 single base substitution A C intron_variant BRCA-EU 17 37527425 37527425 single base substitution C T intron_variant BRCA-EU 17 37527627 37527627 single base substitution C T intron_variant BRCA-EU 17 37527801 37527801 single base substitution C G intron_variant BRCA-EU 17 37528398 37528398 single base substitution C T intron_variant BRCA-EU 17 37528484 37528484 deletion of <=200bp A - intron_variant BRCA-EU 17 37528491 37528491 single base substitution A G intron_variant BRCA-EU 17 37529369 37529369 single base substitution C G intron_variant BRCA-EU 17 37529832 37529832 single base substitution A G intron_variant BRCA-EU 17 37530368 37530368 single base substitution C G intron_variant BRCA-EU 17 37530828 37530828 single base substitution A T intron_variant BRCA-EU 17 37531069 37531070 deletion of <=200bp TC - intron_variant BRCA-EU 17 37532081 37532081 single base substitution T C intron_variant BRCA-EU 17 37533040 37533040 single base substitution G A intron_variant BRCA-EU 17 37534527 37534527 single base substitution G A intron_variant BRCA-EU 17 37534669 37534669 single base substitution G A intron_variant BRCA-EU 17 37534787 37534787 single base substitution C T intron_variant BRCA-EU 17 37534936 37534936 single base substitution C T intron_variant BRCA-EU 17 37535394 37535394 single base substitution G A intron_variant BRCA-EU 17 37536989 37536989 single base substitution T C intron_variant BRCA-EU 17 37538213 37538213 single base substitution G C intron_variant BRCA-EU 17 37538223 37538223 single base substitution T C intron_variant BRCA-EU 17 37538613 37538613 single base substitution G A intron_variant BRCA-EU 17 37538715 37538716 deletion of <=200bp AT - intron_variant BRCA-EU 17 37539330 37539330 single base substitution C T intron_variant BRCA-EU 17 37539433 37539433 deletion of <=200bp G - intron_variant BRCA-EU 17 37539647 37539647 single base substitution G T intron_variant BRCA-EU 17 37539861 37539861 single base substitution G C intron_variant BRCA-EU 17 37540878 37540878 single base substitution C T intron_variant BRCA-EU 17 37542389 37542389 single base substitution C T intron_variant BRCA-EU 17 37542562 37542562 insertion of <=200bp - AAAT intron_variant BRCA-EU 17 37542601 37542601 single base substitution G A intron_variant BRCA-EU 17 37544181 37544181 single base substitution G T intron_variant BRCA-EU 17 37544556 37544556 deletion of <=200bp A - intron_variant BRCA-EU 17 37546873 37546873 single base substitution G A intron_variant BRCA-EU 17 37547201 37547201 single base substitution G C intron_variant BRCA-EU 17 37547694 37547694 single base substitution G C intron_variant BRCA-EU 17 37547697 37547697 single base substitution G C intron_variant BRCA-EU 17 37547805 37547805 single base substitution A C intron_variant BRCA-EU 17 37548323 37548323 single base substitution G A intron_variant BRCA-EU 17 37548594 37548594 single base substitution G A intron_variant BRCA-EU 17 37548708 37548709 deletion of <=200bp AG - intron_variant BRCA-EU 17 37551368 37551368 single base substitution G A intron_variant BRCA-EU 17 37552016 37552016 single base substitution A C intron_variant BRCA-EU 17 37552371 37552371 single base substitution G C intron_variant BRCA-EU 17 37553866 37553866 single base substitution A C intron_variant BRCA-EU 17 37554445 37554445 single base substitution G C intron_variant BRCA-EU 17 37554477 37554477 single base substitution G A intron_variant BRCA-EU 17 37555044 37555044 single base substitution C T intron_variant BRCA-EU 17 37556396 37556396 single base substitution C T intron_variant BRCA-EU 17 37556685 37556685 single base substitution G A intron_variant BRCA-EU 17 37557537 37557537 single base substitution C T intron_variant BRCA-EU 17 37559649 37559649 single base substitution C T upstream_gene_variant BRCA-EU 17 37560885 37560885 deletion of <=200bp A - upstream_gene_variant BRCA-EU 17 37560926 37560926 single base substitution G C upstream_gene_variant BRCA-EU 17 37561163 37561163 single base substitution G C upstream_gene_variant BRCA-EU 17 37561569 37561569 single base substitution G A upstream_gene_variant BRCA-EU 17 37561800 37561800 single base substitution G C upstream_gene_variant BRCA-EU 17 37561942 37561942 single base substitution C G upstream_gene_variant BRCA-EU 17 37562148 37562148 single base substitution C T upstream_gene_variant BRCA-EU 17 37563672 37563672 single base substitution A C upstream_gene_variant BRCA-FR 17 37418660 37418660 single base substitution A C downstream_gene_variant BRCA-FR 17 37418660 37418660 single base substitution A C intron_variant BRCA-FR 17 37418726 37418726 single base substitution A C downstream_gene_variant BRCA-FR 17 37418726 37418726 single base substitution A C intron_variant BRCA-FR 17 37418944 37418944 single base substitution A T downstream_gene_variant BRCA-FR 17 37418944 37418944 single base substitution A T intron_variant BRCA-FR 17 37418963 37418963 single base substitution C T downstream_gene_variant BRCA-FR 17 37418963 37418963 single base substitution C T intron_variant BRCA-FR 17 37419073 37419073 single base substitution A C downstream_gene_variant BRCA-FR 17 37419073 37419073 single base substitution A C intron_variant BRCA-FR 17 37419100 37419100 single base substitution A C downstream_gene_variant BRCA-FR 17 37419100 37419100 single base substitution A C intron_variant BRCA-FR 17 37419134 37419134 single base substitution A G downstream_gene_variant BRCA-FR 17 37419134 37419134 single base substitution A G intron_variant BRCA-FR 17 37419187 37419187 single base substitution A G downstream_gene_variant BRCA-FR 17 37419187 37419187 single base substitution A G intron_variant BRCA-FR 17 37419189 37419189 single base substitution A G downstream_gene_variant BRCA-FR 17 37419189 37419189 single base substitution A G intron_variant BRCA-FR 17 37419205 37419205 single base substitution A C downstream_gene_variant BRCA-FR 17 37419205 37419205 single base substitution A C intron_variant BRCA-FR 17 37422098 37422098 single base substitution C G intron_variant BRCA-FR 17 37431593 37431593 single base substitution G A intron_variant BRCA-FR 17 37431593 37431593 single base substitution G A upstream_gene_variant BRCA-FR 17 37432163 37432163 single base substitution G C intron_variant BRCA-FR 17 37432999 37432999 single base substitution A C intron_variant BRCA-FR 17 37433400 37433400 single base substitution C A intron_variant BRCA-FR 17 37433961 37433961 single base substitution C T intron_variant BRCA-FR 17 37435365 37435365 single base substitution C G intron_variant BRCA-FR 17 37439566 37439566 single base substitution C A intron_variant BRCA-FR 17 37439755 37439755 single base substitution C T intron_variant BRCA-FR 17 37441649 37441649 single base substitution C T intron_variant BRCA-FR 17 37441666 37441666 single base substitution C G intron_variant BRCA-FR 17 37441921 37441921 single base substitution T C intron_variant BRCA-FR 17 37444657 37444657 single base substitution G T intron_variant BRCA-FR 17 37449058 37449058 single base substitution T C intron_variant BRCA-FR 17 37449672 37449672 single base substitution C A intron_variant BRCA-FR 17 37450278 37450278 single base substitution C T intron_variant BRCA-FR 17 37450613 37450613 single base substitution C T intron_variant BRCA-FR 17 37451140 37451140 single base substitution C T intron_variant BRCA-FR 17 37451633 37451633 single base substitution C G intron_variant BRCA-FR 17 37461326 37461326 single base substitution C T intron_variant BRCA-FR 17 37462887 37462887 single base substitution C G intron_variant BRCA-FR 17 37466666 37466666 single base substitution C T intron_variant BRCA-FR 17 37467634 37467634 single base substitution C T intron_variant BRCA-FR 17 37467884 37467884 single base substitution C T intron_variant BRCA-FR 17 37468706 37468706 single base substitution C T intron_variant BRCA-FR 17 37469906 37469906 single base substitution G C intron_variant BRCA-FR 17 37470352 37470352 single base substitution C T intron_variant BRCA-FR 17 37470650 37470650 single base substitution C T intron_variant BRCA-FR 17 37474546 37474546 single base substitution A C intron_variant BRCA-FR 17 37474603 37474603 single base substitution A C intron_variant BRCA-FR 17 37478676 37478676 single base substitution G A intron_variant BRCA-FR 17 37478758 37478758 single base substitution G C intron_variant BRCA-FR 17 37481110 37481110 single base substitution G A intron_variant BRCA-FR 17 37484322 37484322 single base substitution G A intron_variant BRCA-FR 17 37484445 37484445 single base substitution G T intron_variant BRCA-FR 17 37486423 37486423 single base substitution G C intron_variant BRCA-FR 17 37486494 37486494 single base substitution G A intron_variant BRCA-FR 17 37486688 37486688 single base substitution G A intron_variant BRCA-FR 17 37486887 37486887 single base substitution G C intron_variant BRCA-FR 17 37487156 37487156 single base substitution G C intron_variant BRCA-FR 17 37487636 37487636 single base substitution G C intron_variant BRCA-FR 17 37488215 37488215 single base substitution G C intron_variant BRCA-FR 17 37488486 37488486 single base substitution G C intron_variant BRCA-FR 17 37488858 37488858 single base substitution G A intron_variant BRCA-FR 17 37490411 37490411 single base substitution C G intron_variant BRCA-FR 17 37491356 37491356 single base substitution C G intron_variant BRCA-FR 17 37491415 37491415 single base substitution C T intron_variant BRCA-FR 17 37491479 37491479 single base substitution C G intron_variant BRCA-FR 17 37491667 37491667 single base substitution C G intron_variant BRCA-FR 17 37491786 37491786 single base substitution A C intron_variant BRCA-FR 17 37491911 37491911 single base substitution C G intron_variant BRCA-FR 17 37491942 37491942 single base substitution C G intron_variant BRCA-FR 17 37492554 37492554 single base substitution C G intron_variant BRCA-FR 17 37494830 37494830 single base substitution A T intron_variant BRCA-FR 17 37499510 37499510 single base substitution C G intron_variant BRCA-FR 17 37499880 37499880 single base substitution G A intron_variant BRCA-FR 17 37501775 37501775 single base substitution C G intron_variant BRCA-FR 17 37502002 37502002 single base substitution C A intron_variant BRCA-FR 17 37502003 37502003 single base substitution A G intron_variant BRCA-FR 17 37504003 37504003 single base substitution C A intron_variant BRCA-FR 17 37504667 37504667 single base substitution C G intron_variant BRCA-FR 17 37504770 37504770 single base substitution C G intron_variant BRCA-FR 17 37505966 37505966 single base substitution G C intron_variant BRCA-FR 17 37506643 37506643 single base substitution G C intron_variant BRCA-FR 17 37513480 37513480 single base substitution C A intron_variant BRCA-FR 17 37515428 37515428 single base substitution A T intron_variant BRCA-FR 17 37517459 37517459 single base substitution A C intron_variant BRCA-FR 17 37518684 37518684 single base substitution C G intron_variant BRCA-FR 17 37518980 37518980 single base substitution C A intron_variant BRCA-FR 17 37519398 37519398 single base substitution G T intron_variant BRCA-FR 17 37520414 37520414 single base substitution A G intron_variant BRCA-FR 17 37522759 37522759 single base substitution C A intron_variant BRCA-FR 17 37525333 37525333 single base substitution G C intron_variant BRCA-FR 17 37525927 37525927 single base substitution G T intron_variant BRCA-FR 17 37526157 37526157 single base substitution G T intron_variant BRCA-FR 17 37527425 37527425 single base substitution C T intron_variant BRCA-FR 17 37527627 37527627 single base substitution C T intron_variant BRCA-FR 17 37527801 37527801 single base substitution C G intron_variant BRCA-FR 17 37528084 37528084 single base substitution C T intron_variant BRCA-FR 17 37528086 37528086 single base substitution C G intron_variant BRCA-FR 17 37528280 37528280 single base substitution G C intron_variant BRCA-FR 17 37533040 37533040 single base substitution G A intron_variant BRCA-FR 17 37534527 37534527 single base substitution G A intron_variant BRCA-FR 17 37534669 37534669 single base substitution G A intron_variant BRCA-FR 17 37534936 37534936 single base substitution C T intron_variant BRCA-FR 17 37539647 37539647 single base substitution G T intron_variant BRCA-FR 17 37542601 37542601 single base substitution G A intron_variant BRCA-FR 17 37543849 37543849 single base substitution G A intron_variant BRCA-FR 17 37547694 37547694 single base substitution G C intron_variant BRCA-FR 17 37548323 37548323 single base substitution G A intron_variant BRCA-FR 17 37550309 37550309 single base substitution G C intron_variant BRCA-FR 17 37552479 37552479 single base substitution G C intron_variant BRCA-FR 17 37554477 37554477 single base substitution G A intron_variant BRCA-FR 17 37556221 37556221 single base substitution G A intron_variant BRCA-FR 17 37557851 37557851 single base substitution G T 5_prime_UTR_variant BRCA-FR 17 37557851 37557851 single base substitution G T intron_variant BRCA-FR 17 37560393 37560393 single base substitution C G upstream_gene_variant BRCA-FR 17 37561163 37561163 single base substitution G C upstream_gene_variant BRCA-FR 17 37561569 37561569 single base substitution G A upstream_gene_variant BRCA-FR 17 37563394 37563394 single base substitution G A upstream_gene_variant BRCA-KR 17 37457342 37457342 single base substitution A G intron_variant BRCA-UK 17 37417801 37417801 single base substitution T C downstream_gene_variant BRCA-UK 17 37417801 37417801 single base substitution T C missense_variant K376R 1127A>G BRCA-UK 17 37417801 37417801 single base substitution T C missense_variant K408R 1223A>G BRCA-UK 17 37417801 37417801 single base substitution T C missense_variant K410R 1229A>G BRCA-UK 17 37421957 37421957 single base substitution G T intron_variant BRCA-UK 17 37457320 37457320 single base substitution A G synonymous_variant N56N 168T>C BRCA-UK 17 37457320 37457320 single base substitution A G synonymous_variant N58N 174T>C BRCA-UK 17 37467437 37467437 single base substitution C A intron_variant BRCA-UK 17 37468164 37468164 single base substitution G A intron_variant BRCA-UK 17 37483880 37483880 single base substitution T A intron_variant BRCA-UK 17 37494778 37494778 single base substitution G A intron_variant BRCA-UK 17 37497664 37497664 single base substitution C T intron_variant BRCA-UK 17 37497963 37497963 single base substitution G A intron_variant BRCA-UK 17 37500151 37500151 single base substitution C T intron_variant BRCA-UK 17 37502045 37502045 single base substitution C T intron_variant BRCA-UK 17 37503088 37503088 single base substitution C G intron_variant BRCA-UK 17 37503164 37503164 single base substitution C G intron_variant BRCA-UK 17 37503174 37503174 single base substitution C G intron_variant BRCA-UK 17 37503205 37503205 single base substitution C G intron_variant BRCA-UK 17 37503326 37503326 single base substitution C G intron_variant BRCA-UK 17 37503371 37503371 single base substitution C G intron_variant BRCA-UK 17 37503478 37503478 single base substitution C G intron_variant BRCA-UK 17 37503503 37503503 single base substitution C G intron_variant BRCA-UK 17 37503760 37503760 single base substitution C G intron_variant BRCA-UK 17 37503802 37503802 single base substitution C G intron_variant BRCA-UK 17 37503822 37503822 single base substitution C G intron_variant BRCA-UK 17 37504011 37504011 single base substitution C G intron_variant BRCA-UK 17 37504188 37504188 single base substitution C G intron_variant BRCA-UK 17 37504228 37504228 single base substitution C T intron_variant BRCA-UK 17 37504290 37504290 single base substitution C A intron_variant BRCA-UK 17 37504294 37504294 single base substitution C T intron_variant BRCA-UK 17 37504367 37504367 single base substitution C T intron_variant BRCA-UK 17 37512083 37512083 single base substitution G A intron_variant BRCA-UK 17 37528247 37528247 single base substitution C A intron_variant BRCA-UK 17 37528398 37528398 single base substitution C T intron_variant BRCA-UK 17 37529369 37529369 single base substitution C G intron_variant BRCA-UK 17 37534787 37534787 single base substitution C T intron_variant BRCA-UK 17 37554186 37554186 single base substitution C G intron_variant BRCA-UK 17 37555044 37555044 single base substitution C T intron_variant BRCA-UK 17 37556396 37556396 single base substitution C T intron_variant BTCA-JP 17 37421735 37421735 single base substitution G A intron_variant BTCA-JP 17 37457445 37457445 single base substitution A C intron_variant CESC-US 17 37421664 37421664 single base substitution G A stop_gained R294* 880C>T CESC-US 17 37421664 37421664 single base substitution G A stop_gained R326* 976C>T CESC-US 17 37421664 37421664 single base substitution G A stop_gained R328* 982C>T CESC-US 17 37421664 37421664 single base substitution G A stop_gained R35* 103C>T CESC-US 17 37499465 37499465 single base substitution G C missense_variant I24M 72C>G CESC-US 17 37499465 37499465 single base substitution G C missense_variant I26M 78C>G CESC-US 17 37499487 37499487 single base substitution G C stop_gained S17* 50C>G CESC-US 17 37499487 37499487 single base substitution G C stop_gained S19* 56C>G CESC-US 17 37557641 37557641 single base substitution C T intron_variant CESC-US 17 37557641 37557641 single base substitution C T synonymous_variant V5V 15G>A CLLE-ES 17 37449790 37449793 deletion of <=200bp AAAT - intron_variant CLLE-ES 17 37452494 37452494 single base substitution C T intron_variant CLLE-ES 17 37466245 37466249 deletion of <=200bp AAAAA - intron_variant CLLE-ES 17 37501672 37501672 single base substitution G A intron_variant CLLE-ES 17 37562769 37562769 single base substitution A T upstream_gene_variant CLLE-ES 17 37563455 37563455 single base substitution T C upstream_gene_variant COAD-US 17 37417765 37417765 deletion of <=200bp G - downstream_gene_variant COAD-US 17 37417765 37417765 deletion of <=200bp G - frameshift_variant P388 COAD-US 17 37417765 37417765 deletion of <=200bp G - frameshift_variant P420 COAD-US 17 37417765 37417765 deletion of <=200bp G - frameshift_variant P422 COAD-US 17 37417794 37417794 single base substitution G A downstream_gene_variant COAD-US 17 37417794 37417794 single base substitution G A synonymous_variant H378H 1134C>T COAD-US 17 37417794 37417794 single base substitution G A synonymous_variant H410H 1230C>T COAD-US 17 37417794 37417794 single base substitution G A synonymous_variant H412H 1236C>T COAD-US 17 37420535 37420535 single base substitution G A synonymous_variant L334L 1000C>T COAD-US 17 37420535 37420535 single base substitution G A synonymous_variant L366L 1096C>T COAD-US 17 37420535 37420535 single base substitution G A synonymous_variant L368L 1102C>T COAD-US 17 37420535 37420535 single base substitution G A synonymous_variant L75L 223C>T COAD-US 17 37420615 37420615 single base substitution G A missense_variant T307I 920C>T COAD-US 17 37420615 37420615 single base substitution G A missense_variant T339I 1016C>T COAD-US 17 37420615 37420615 single base substitution G A missense_variant T341I 1022C>T COAD-US 17 37420615 37420615 single base substitution G A missense_variant T48I 143C>T COAD-US 17 37431356 37431356 deletion of <=200bp A - splice_region_variant COAD-US 17 37431356 37431356 deletion of <=200bp A - upstream_gene_variant COAD-US 17 37437709 37437709 single base substitution T C missense_variant D178G 533A>G COAD-US 17 37437709 37437709 single base substitution T C missense_variant D210G 629A>G COAD-US 17 37437709 37437709 single base substitution T C missense_variant D212G 635A>G COCA-CN 17 37418977 37418977 single base substitution C T downstream_gene_variant COCA-CN 17 37418977 37418977 single base substitution C T intron_variant COCA-CN 17 37420281 37420281 single base substitution C A 3_prime_UTR_variant COCA-CN 17 37420281 37420281 single base substitution C A intron_variant COCA-CN 17 37420597 37420597 single base substitution T C missense_variant H313R 938A>G COCA-CN 17 37420597 37420597 single base substitution T C missense_variant H345R 1034A>G COCA-CN 17 37420597 37420597 single base substitution T C missense_variant H347R 1040A>G COCA-CN 17 37420597 37420597 single base substitution T C missense_variant H54R 161A>G COCA-CN 17 37426930 37426930 single base substitution G A intron_variant COCA-CN 17 37431157 37431157 single base substitution G T intron_variant COCA-CN 17 37431157 37431157 single base substitution G T upstream_gene_variant COCA-CN 17 37431382 37431382 single base substitution G T intron_variant COCA-CN 17 37431382 37431382 single base substitution G T upstream_gene_variant COCA-CN 17 37455280 37455280 single base substitution G T missense_variant L100I 298C>A COCA-CN 17 37455280 37455280 single base substitution G T missense_variant L98I 292C>A COCA-CN 17 37499400 37499400 single base substitution A T intron_variant COCA-CN 17 37499407 37499407 single base substitution C A intron_variant COCA-CN 17 37507469 37507469 single base substitution A G intron_variant EOPC-DE 17 37414095 37414095 single base substitution G A downstream_gene_variant EOPC-DE 17 37469572 37469572 single base substitution C T intron_variant EOPC-DE 17 37481369 37481369 single base substitution G C intron_variant EOPC-DE 17 37497918 37497918 single base substitution C T intron_variant ESAD-UK 17 37410400 37410400 single base substitution G A downstream_gene_variant ESAD-UK 17 37412178 37412178 single base substitution G A downstream_gene_variant ESAD-UK 17 37417249 37417249 single base substitution G A 3_prime_UTR_variant ESAD-UK 17 37417249 37417249 single base substitution G A downstream_gene_variant ESAD-UK 17 37417249 37417249 single base substitution G A intron_variant ESAD-UK 17 37418297 37418297 single base substitution C A downstream_gene_variant ESAD-UK 17 37418297 37418297 single base substitution C A intron_variant ESAD-UK 17 37418562 37418562 single base substitution T G downstream_gene_variant ESAD-UK 17 37418562 37418562 single base substitution T G intron_variant ESAD-UK 17 37421046 37421046 single base substitution A C intron_variant ESAD-UK 17 37423145 37423145 single base substitution G A intron_variant ESAD-UK 17 37423554 37423554 single base substitution C T intron_variant ESAD-UK 17 37424371 37424379 deletion of <=200bp GAGCCAAGT - intron_variant ESAD-UK 17 37425032 37425032 single base substitution C G intron_variant ESAD-UK 17 37430030 37430030 single base substitution G A intron_variant ESAD-UK 17 37430030 37430030 single base substitution G A upstream_gene_variant ESAD-UK 17 37432397 37432397 single base substitution G A intron_variant ESAD-UK 17 37432940 37432940 deletion of <=200bp G - intron_variant ESAD-UK 17 37435832 37435832 single base substitution T C intron_variant ESAD-UK 17 37436786 37436786 single base substitution C T intron_variant ESAD-UK 17 37437373 37437373 deletion of <=200bp T - intron_variant ESAD-UK 17 37437745 37437745 single base substitution T C intron_variant ESAD-UK 17 37439480 37439480 single base substitution C G intron_variant ESAD-UK 17 37439713 37439713 single base substitution G A intron_variant ESAD-UK 17 37439801 37439801 single base substitution G A intron_variant ESAD-UK 17 37446535 37446535 single base substitution T G intron_variant ESAD-UK 17 37447783 37447783 single base substitution T C intron_variant ESAD-UK 17 37448052 37448052 single base substitution G A intron_variant ESAD-UK 17 37450635 37450635 single base substitution C T intron_variant ESAD-UK 17 37453522 37453522 single base substitution T C intron_variant ESAD-UK 17 37453881 37453881 single base substitution A C intron_variant ESAD-UK 17 37456831 37456831 single base substitution C T intron_variant ESAD-UK 17 37461021 37461021 single base substitution G T intron_variant ESAD-UK 17 37461235 37461235 single base substitution C T intron_variant ESAD-UK 17 37462445 37462445 single base substitution C T intron_variant ESAD-UK 17 37463933 37463933 deletion of <=200bp A - intron_variant ESAD-UK 17 37465592 37465592 single base substitution C G intron_variant ESAD-UK 17 37467193 37467193 single base substitution C T intron_variant ESAD-UK 17 37468851 37468851 single base substitution G A intron_variant ESAD-UK 17 37471729 37471729 single base substitution G T intron_variant ESAD-UK 17 37472726 37472726 single base substitution G A intron_variant ESAD-UK 17 37473025 37473025 single base substitution G A intron_variant ESAD-UK 17 37474289 37474289 single base substitution A C intron_variant ESAD-UK 17 37477445 37477445 single base substitution G A intron_variant ESAD-UK 17 37477818 37477818 single base substitution G T intron_variant ESAD-UK 17 37479664 37479664 single base substitution T C intron_variant ESAD-UK 17 37481324 37481324 single base substitution G A intron_variant ESAD-UK 17 37484481 37484481 single base substitution A G intron_variant ESAD-UK 17 37487505 37487505 single base substitution C G intron_variant ESAD-UK 17 37496960 37496960 insertion of <=200bp - C intron_variant ESAD-UK 17 37498193 37498193 single base substitution A C intron_variant ESAD-UK 17 37498548 37498548 single base substitution G C intron_variant ESAD-UK 17 37499472 37499472 single base substitution G A missense_variant A22V 65C>T ESAD-UK 17 37499472 37499472 single base substitution G A missense_variant A24V 71C>T ESAD-UK 17 37500350 37500350 single base substitution C T intron_variant ESAD-UK 17 37500727 37500727 single base substitution G A intron_variant ESAD-UK 17 37504999 37504999 single base substitution T G intron_variant ESAD-UK 17 37510772 37510772 single base substitution A T intron_variant ESAD-UK 17 37513354 37513354 single base substitution T C intron_variant ESAD-UK 17 37514756 37514756 single base substitution C T intron_variant ESAD-UK 17 37514965 37514965 deletion of <=200bp A - intron_variant ESAD-UK 17 37517075 37517075 single base substitution T A intron_variant ESAD-UK 17 37517138 37517138 single base substitution A G intron_variant ESAD-UK 17 37517326 37517326 single base substitution G A intron_variant ESAD-UK 17 37517338 37517338 single base substitution T C intron_variant ESAD-UK 17 37517783 37517783 single base substitution G T intron_variant ESAD-UK 17 37519885 37519885 single base substitution A G intron_variant ESAD-UK 17 37522109 37522109 single base substitution G C intron_variant ESAD-UK 17 37522201 37522201 single base substitution G C intron_variant ESAD-UK 17 37523407 37523407 single base substitution A G intron_variant ESAD-UK 17 37527094 37527094 single base substitution C A intron_variant ESAD-UK 17 37527517 37527517 insertion of <=200bp - A intron_variant ESAD-UK 17 37527984 37527984 single base substitution G A intron_variant ESAD-UK 17 37528601 37528601 single base substitution G A intron_variant ESAD-UK 17 37528690 37528690 single base substitution T C intron_variant ESAD-UK 17 37528801 37528801 single base substitution A C intron_variant ESAD-UK 17 37529667 37529667 single base substitution C A intron_variant ESAD-UK 17 37531087 37531087 single base substitution C T intron_variant ESAD-UK 17 37532312 37532312 single base substitution C G intron_variant ESAD-UK 17 37533762 37533762 single base substitution T G intron_variant ESAD-UK 17 37535157 37535157 single base substitution C T intron_variant ESAD-UK 17 37535885 37535885 single base substitution T A intron_variant ESAD-UK 17 37536774 37536774 single base substitution C T intron_variant ESAD-UK 17 37537285 37537285 single base substitution C T intron_variant ESAD-UK 17 37539658 37539658 single base substitution G A intron_variant ESAD-UK 17 37540599 37540599 single base substitution G A intron_variant ESAD-UK 17 37543119 37543119 single base substitution T G intron_variant ESAD-UK 17 37543287 37543287 insertion of <=200bp - T intron_variant ESAD-UK 17 37545966 37545966 single base substitution G A intron_variant ESAD-UK 17 37546709 37546709 single base substitution G A intron_variant ESAD-UK 17 37547601 37547601 single base substitution T G intron_variant ESAD-UK 17 37547800 37547800 single base substitution A C intron_variant ESAD-UK 17 37547806 37547806 single base substitution A C intron_variant ESAD-UK 17 37548976 37548976 single base substitution A T intron_variant ESAD-UK 17 37551533 37551533 single base substitution C T intron_variant ESAD-UK 17 37554482 37554482 single base substitution G A intron_variant ESAD-UK 17 37558192 37558192 single base substitution C T intron_variant ESAD-UK 17 37558192 37558192 single base substitution C T upstream_gene_variant ESAD-UK 17 37560107 37560107 single base substitution G A upstream_gene_variant ESAD-UK 17 37560707 37560707 single base substitution A T upstream_gene_variant ESAD-UK 17 37560799 37560799 single base substitution G A upstream_gene_variant ESAD-UK 17 37563245 37563245 single base substitution C T upstream_gene_variant GBM-US 17 37431297 37431297 single base substitution G T synonymous_variant S219S 657C>A GBM-US 17 37431297 37431297 single base substitution G T synonymous_variant S251S 753C>A GBM-US 17 37431297 37431297 single base substitution G T synonymous_variant S253S 759C>A GBM-US 17 37431297 37431297 single base substitution G T upstream_gene_variant LAML-KR 17 37422492 37422492 single base substitution G T intron_variant LAML-KR 17 37433081 37433081 single base substitution T C intron_variant LAML-KR 17 37449679 37449679 single base substitution T C intron_variant LAML-KR 17 37469406 37469406 single base substitution A G intron_variant LAML-KR 17 37475951 37475951 single base substitution T A intron_variant LAML-KR 17 37512069 37512069 single base substitution T C intron_variant LAML-KR 17 37512070 37512070 single base substitution T G intron_variant LAML-KR 17 37519113 37519113 single base substitution T C intron_variant LAML-KR 17 37523587 37523587 single base substitution G T intron_variant LAML-KR 17 37542227 37542227 single base substitution C G intron_variant LAML-KR 17 37542247 37542247 single base substitution T C intron_variant LAML-KR 17 37542340 37542340 single base substitution G A intron_variant LAML-KR 17 37561118 37561118 single base substitution A C upstream_gene_variant LGG-US 17 37420470 37420471 deletion of <=200bp AT - frameshift_variant Y355 LGG-US 17 37420470 37420471 deletion of <=200bp AT - frameshift_variant Y387 LGG-US 17 37420470 37420471 deletion of <=200bp AT - frameshift_variant Y389 LGG-US 17 37420470 37420471 deletion of <=200bp AT - frameshift_variant Y96 LICA-FR 17 37411438 37411438 single base substitution C G downstream_gene_variant LICA-FR 17 37421033 37421033 single base substitution G A intron_variant LICA-FR 17 37423520 37423520 single base substitution A G intron_variant LICA-FR 17 37428638 37428638 deletion of <=200bp A - intron_variant LICA-FR 17 37428638 37428638 deletion of <=200bp A - upstream_gene_variant LICA-FR 17 37434733 37434733 single base substitution G C intron_variant LICA-FR 17 37473326 37473326 single base substitution A G intron_variant LICA-FR 17 37477718 37477718 deletion of <=200bp A - intron_variant LICA-FR 17 37490365 37490365 single base substitution T C intron_variant LICA-FR 17 37490381 37490381 single base substitution A G intron_variant LICA-FR 17 37499432 37499432 single base substitution C A splice_donor_variant LICA-FR 17 37511879 37511879 single base substitution C A intron_variant LICA-FR 17 37516005 37516005 single base substitution C A intron_variant LICA-FR 17 37535739 37535739 deletion of <=200bp A - intron_variant LICA-FR 17 37549849 37549849 single base substitution G T intron_variant LIHC-US 17 37421707 37421707 single base substitution C A splice_acceptor_variant LINC-JP 17 37425252 37425252 single base substitution T C intron_variant LINC-JP 17 37432469 37432469 single base substitution G A intron_variant LINC-JP 17 37437759 37437759 single base substitution G A intron_variant LINC-JP 17 37451463 37451463 single base substitution T C intron_variant LINC-JP 17 37455538 37455538 single base substitution A T intron_variant LINC-JP 17 37457256 37457256 single base substitution C A stop_gained E78* 232G>T LINC-JP 17 37457256 37457256 single base substitution C A stop_gained E80* 238G>T LINC-JP 17 37459767 37459767 single base substitution G T intron_variant LINC-JP 17 37472878 37472878 single base substitution C T intron_variant LINC-JP 17 37474457 37474457 single base substitution G T intron_variant LINC-JP 17 37483857 37483857 single base substitution A G intron_variant LINC-JP 17 37499249 37499249 single base substitution A G intron_variant LINC-JP 17 37501887 37501887 single base substitution G A intron_variant LINC-JP 17 37519389 37519389 single base substitution G C intron_variant LINC-JP 17 37525509 37525509 single base substitution C T intron_variant LINC-JP 17 37533249 37533249 single base substitution T C intron_variant LINC-JP 17 37535730 37535730 single base substitution T C intron_variant LINC-JP 17 37554191 37554191 single base substitution C A intron_variant LINC-JP 17 37557964 37557964 single base substitution G C intron_variant LINC-JP 17 37557964 37557964 single base substitution G C upstream_gene_variant LINC-JP 17 37562225 37562225 single base substitution T C upstream_gene_variant LINC-JP 17 37562580 37562580 single base substitution T G upstream_gene_variant LIRI-JP 17 37413040 37413040 single base substitution A C downstream_gene_variant LIRI-JP 17 37414312 37414312 single base substitution C A downstream_gene_variant LIRI-JP 17 37414348 37414348 single base substitution C A downstream_gene_variant LIRI-JP 17 37414393 37414393 single base substitution A G downstream_gene_variant LIRI-JP 17 37416327 37416327 single base substitution C A downstream_gene_variant LIRI-JP 17 37416327 37416327 single base substitution C A intron_variant LIRI-JP 17 37417394 37417394 single base substitution C T 3_prime_UTR_variant LIRI-JP 17 37417394 37417394 single base substitution C T downstream_gene_variant LIRI-JP 17 37417394 37417394 single base substitution C T intron_variant LIRI-JP 17 37418295 37418295 single base substitution G A downstream_gene_variant LIRI-JP 17 37418295 37418295 single base substitution G A intron_variant LIRI-JP 17 37419602 37419602 single base substitution T A downstream_gene_variant LIRI-JP 17 37419602 37419602 single base substitution T A intron_variant LIRI-JP 17 37424641 37424641 single base substitution T C intron_variant LIRI-JP 17 37425261 37425261 deletion of <=200bp A - intron_variant LIRI-JP 17 37429701 37429701 single base substitution G T intron_variant LIRI-JP 17 37429701 37429701 single base substitution G T upstream_gene_variant LIRI-JP 17 37433474 37433474 single base substitution T C intron_variant LIRI-JP 17 37433505 37433505 single base substitution C A intron_variant LIRI-JP 17 37434222 37434222 single base substitution T C intron_variant LIRI-JP 17 37438007 37438007 single base substitution T C intron_variant LIRI-JP 17 37438980 37438980 single base substitution A G splice_donor_variant LIRI-JP 17 37440234 37440234 single base substitution C G intron_variant LIRI-JP 17 37440342 37440342 single base substitution A G intron_variant LIRI-JP 17 37442030 37442030 single base substitution C T intron_variant LIRI-JP 17 37445843 37445843 single base substitution G A intron_variant LIRI-JP 17 37446159 37446159 single base substitution C T intron_variant LIRI-JP 17 37450908 37450908 single base substitution T C intron_variant LIRI-JP 17 37453021 37453021 single base substitution T C intron_variant LIRI-JP 17 37453735 37453735 single base substitution A C intron_variant LIRI-JP 17 37454714 37454714 single base substitution G A intron_variant LIRI-JP 17 37456883 37456883 single base substitution T A intron_variant LIRI-JP 17 37458719 37458719 single base substitution C A intron_variant LIRI-JP 17 37459541 37459541 single base substitution T A intron_variant LIRI-JP 17 37461782 37461782 single base substitution G T intron_variant LIRI-JP 17 37462171 37462171 single base substitution T C intron_variant LIRI-JP 17 37462214 37462214 single base substitution T A intron_variant LIRI-JP 17 37463093 37463093 single base substitution A C intron_variant LIRI-JP 17 37463097 37463097 single base substitution T A intron_variant LIRI-JP 17 37465210 37465210 single base substitution A T intron_variant LIRI-JP 17 37467201 37467201 single base substitution T A intron_variant LIRI-JP 17 37467674 37467674 single base substitution T C intron_variant LIRI-JP 17 37469964 37469964 single base substitution C A intron_variant LIRI-JP 17 37469974 37469974 single base substitution T C intron_variant LIRI-JP 17 37470782 37470782 single base substitution T C intron_variant LIRI-JP 17 37470798 37470798 single base substitution G C intron_variant LIRI-JP 17 37473667 37473667 single base substitution T C intron_variant LIRI-JP 17 37476983 37476983 single base substitution G T intron_variant LIRI-JP 17 37479469 37479469 single base substitution G A intron_variant LIRI-JP 17 37483898 37483898 single base substitution T A intron_variant LIRI-JP 17 37483911 37483911 deletion of <=200bp T - intron_variant LIRI-JP 17 37485655 37485655 single base substitution T C intron_variant LIRI-JP 17 37492802 37492802 single base substitution G A intron_variant LIRI-JP 17 37493010 37493010 single base substitution G T intron_variant LIRI-JP 17 37497779 37497779 single base substitution T C intron_variant LIRI-JP 17 37501530 37501530 single base substitution T G intron_variant LIRI-JP 17 37502432 37502432 single base substitution T C intron_variant LIRI-JP 17 37504209 37504209 single base substitution C A intron_variant LIRI-JP 17 37504990 37504990 single base substitution T C intron_variant LIRI-JP 17 37505516 37505516 single base substitution G A intron_variant LIRI-JP 17 37508071 37508071 single base substitution T C intron_variant LIRI-JP 17 37508196 37508196 single base substitution A G intron_variant LIRI-JP 17 37511933 37511933 single base substitution C G intron_variant LIRI-JP 17 37512430 37512430 single base substitution G A intron_variant LIRI-JP 17 37516918 37516918 single base substitution C G intron_variant LIRI-JP 17 37518346 37518346 single base substitution C A intron_variant LIRI-JP 17 37518414 37518414 single base substitution C T intron_variant LIRI-JP 17 37519682 37519682 single base substitution T C intron_variant LIRI-JP 17 37519850 37519850 single base substitution G A intron_variant LIRI-JP 17 37520921 37520921 single base substitution G A intron_variant LIRI-JP 17 37522086 37522086 single base substitution T C intron_variant LIRI-JP 17 37522643 37522643 single base substitution A C intron_variant LIRI-JP 17 37523461 37523461 single base substitution T C intron_variant LIRI-JP 17 37525224 37525224 insertion of <=200bp - C intron_variant LIRI-JP 17 37528044 37528044 single base substitution G C intron_variant LIRI-JP 17 37529639 37529639 single base substitution T G intron_variant LIRI-JP 17 37531579 37531579 single base substitution A G intron_variant LIRI-JP 17 37535025 37535025 single base substitution G C intron_variant LIRI-JP 17 37535176 37535176 single base substitution T C intron_variant LIRI-JP 17 37537003 37537003 single base substitution A G intron_variant LIRI-JP 17 37537869 37537869 single base substitution C A intron_variant LIRI-JP 17 37539083 37539083 single base substitution C A intron_variant LIRI-JP 17 37539156 37539156 single base substitution T A intron_variant LIRI-JP 17 37541523 37541523 single base substitution T C intron_variant LIRI-JP 17 37542403 37542403 single base substitution T C intron_variant LIRI-JP 17 37544170 37544170 single base substitution T C intron_variant LIRI-JP 17 37544893 37544893 single base substitution T C intron_variant LIRI-JP 17 37545431 37545431 single base substitution G T intron_variant LIRI-JP 17 37546808 37546808 single base substitution T C intron_variant LIRI-JP 17 37550807 37550807 single base substitution G A intron_variant LIRI-JP 17 37551382 37551382 single base substitution T C intron_variant LIRI-JP 17 37551403 37551403 single base substitution C T intron_variant LIRI-JP 17 37551594 37551594 single base substitution T A intron_variant LIRI-JP 17 37553969 37553969 single base substitution G A intron_variant LIRI-JP 17 37556167 37556167 single base substitution C A intron_variant LIRI-JP 17 37556959 37556959 single base substitution A G intron_variant LIRI-JP 17 37560562 37560562 single base substitution T C upstream_gene_variant LIRI-JP 17 37561443 37561443 single base substitution A C upstream_gene_variant LUSC-KR 17 37410717 37410717 single base substitution C A downstream_gene_variant LUSC-KR 17 37422400 37422400 single base substitution C T intron_variant LUSC-KR 17 37430622 37430622 single base substitution C T intron_variant LUSC-KR 17 37430622 37430622 single base substitution C T upstream_gene_variant LUSC-KR 17 37433994 37433994 single base substitution C A intron_variant LUSC-KR 17 37441986 37441986 single base substitution G A intron_variant LUSC-KR 17 37446081 37446081 single base substitution C G intron_variant LUSC-KR 17 37453617 37453617 single base substitution A G intron_variant LUSC-KR 17 37455486 37455486 single base substitution G A intron_variant LUSC-KR 17 37457912 37457912 single base substitution C T intron_variant LUSC-KR 17 37461953 37461953 single base substitution A G intron_variant LUSC-KR 17 37470504 37470504 single base substitution G A intron_variant LUSC-KR 17 37474140 37474140 single base substitution G C intron_variant LUSC-KR 17 37478307 37478307 single base substitution T A intron_variant LUSC-KR 17 37478869 37478869 single base substitution C G intron_variant LUSC-KR 17 37486587 37486587 single base substitution C A intron_variant LUSC-KR 17 37486633 37486633 single base substitution G C intron_variant LUSC-KR 17 37493695 37493695 single base substitution A C intron_variant LUSC-KR 17 37500342 37500342 single base substitution C A intron_variant LUSC-KR 17 37500800 37500800 single base substitution A C intron_variant LUSC-KR 17 37508985 37508985 single base substitution C G intron_variant LUSC-KR 17 37512872 37512872 single base substitution C A intron_variant LUSC-KR 17 37517719 37517719 single base substitution C A intron_variant LUSC-KR 17 37524589 37524589 single base substitution G A intron_variant LUSC-KR 17 37527736 37527736 single base substitution T C intron_variant LUSC-KR 17 37537732 37537732 single base substitution C A intron_variant LUSC-KR 17 37542184 37542184 single base substitution G A intron_variant LUSC-KR 17 37543550 37543550 single base substitution G T intron_variant LUSC-KR 17 37550613 37550613 single base substitution C A intron_variant LUSC-US 17 37420578 37420578 single base substitution G T stop_gained C319* 957C>A LUSC-US 17 37420578 37420578 single base substitution G T stop_gained C351* 1053C>A LUSC-US 17 37420578 37420578 single base substitution G T stop_gained C353* 1059C>A LUSC-US 17 37420578 37420578 single base substitution G T stop_gained C60* 180C>A LUSC-US 17 37425100 37425100 single base substitution C A missense_variant D14Y 40G>T LUSC-US 17 37425100 37425100 single base substitution C A missense_variant D273Y 817G>T LUSC-US 17 37425100 37425100 single base substitution C A missense_variant D305Y 913G>T LUSC-US 17 37425100 37425100 single base substitution C A missense_variant D307Y 919G>T LUSC-US 17 37439059 37439059 single base substitution C T missense_variant V150I 448G>A LUSC-US 17 37439059 37439059 single base substitution C T missense_variant V182I 544G>A LUSC-US 17 37439059 37439059 single base substitution C T missense_variant V184I 550G>A LUSC-US 17 37455251 37455251 single base substitution A T missense_variant N107K 321T>A LUSC-US 17 37455251 37455251 single base substitution A T missense_variant N109K 327T>A LUSC-US 17 37563746 37563746 single base substitution C A upstream_gene_variant MALY-DE 17 37412302 37412302 single base substitution G T downstream_gene_variant MALY-DE 17 37419955 37419955 single base substitution G C downstream_gene_variant MALY-DE 17 37419955 37419955 single base substitution G C intron_variant MALY-DE 17 37420476 37420476 single base substitution T C synonymous_variant E353E 1059A>G MALY-DE 17 37420476 37420476 single base substitution T C synonymous_variant E385E 1155A>G MALY-DE 17 37420476 37420476 single base substitution T C synonymous_variant E387E 1161A>G MALY-DE 17 37420476 37420476 single base substitution T C synonymous_variant E94E 282A>G MALY-DE 17 37435775 37435775 single base substitution A T intron_variant MALY-DE 17 37446286 37446286 single base substitution A G intron_variant MALY-DE 17 37449341 37449341 single base substitution T C intron_variant MALY-DE 17 37452038 37452038 insertion of <=200bp - AT intron_variant MALY-DE 17 37452038 37452039 deletion of <=200bp AT - intron_variant MALY-DE 17 37458141 37458141 insertion of <=200bp - A intron_variant MALY-DE 17 37466228 37466228 single base substitution C A intron_variant MALY-DE 17 37467255 37467255 insertion of <=200bp - C intron_variant MALY-DE 17 37471647 37471647 insertion of <=200bp - TATATATATATA intron_variant MALY-DE 17 37471647 37471648 deletion of <=200bp TA - intron_variant MALY-DE 17 37473772 37473772 single base substitution C T intron_variant MALY-DE 17 37479468 37479468 single base substitution C T intron_variant MALY-DE 17 37499617 37499617 single base substitution C T intron_variant MALY-DE 17 37501348 37501348 single base substitution A C intron_variant MALY-DE 17 37509432 37509432 single base substitution T A intron_variant MALY-DE 17 37514044 37514044 single base substitution C T intron_variant MALY-DE 17 37515396 37515396 single base substitution A C intron_variant MALY-DE 17 37515428 37515428 single base substitution A T intron_variant MALY-DE 17 37517634 37517634 single base substitution C G intron_variant MALY-DE 17 37518244 37518244 single base substitution A G intron_variant MALY-DE 17 37520094 37520094 single base substitution A C intron_variant MALY-DE 17 37530350 37530350 single base substitution C T intron_variant MALY-DE 17 37536611 37536611 single base substitution G A intron_variant MALY-DE 17 37538761 37538761 single base substitution A T intron_variant MALY-DE 17 37538775 37538775 single base substitution T C intron_variant MALY-DE 17 37541499 37541500 deletion of <=200bp CA - intron_variant MALY-DE 17 37545324 37545324 single base substitution T C intron_variant MALY-DE 17 37550255 37550255 single base substitution A T intron_variant MALY-DE 17 37550298 37550298 single base substitution T G intron_variant MALY-DE 17 37560251 37560251 single base substitution C T upstream_gene_variant MALY-DE 17 37562840 37562840 single base substitution G A upstream_gene_variant MELA-AU 17 37411230 37411230 single base substitution G A downstream_gene_variant MELA-AU 17 37411231 37411231 single base substitution G A downstream_gene_variant MELA-AU 17 37411459 37411459 single base substitution G A downstream_gene_variant MELA-AU 17 37411677 37411677 single base substitution G A downstream_gene_variant MELA-AU 17 37411736 37411736 single base substitution G A downstream_gene_variant MELA-AU 17 37411789 37411789 single base substitution T C downstream_gene_variant MELA-AU 17 37412518 37412518 single base substitution G T downstream_gene_variant MELA-AU 17 37412774 37412774 single base substitution G A downstream_gene_variant MELA-AU 17 37412898 37412898 single base substitution C T downstream_gene_variant MELA-AU 17 37413365 37413365 single base substitution T A downstream_gene_variant MELA-AU 17 37414087 37414087 single base substitution G A downstream_gene_variant MELA-AU 17 37414271 37414271 single base substitution G A downstream_gene_variant MELA-AU 17 37414657 37414657 single base substitution G A downstream_gene_variant MELA-AU 17 37416394 37416394 single base substitution G A downstream_gene_variant MELA-AU 17 37416394 37416394 single base substitution G A intron_variant MELA-AU 17 37417535 37417535 single base substitution G A 3_prime_UTR_variant MELA-AU 17 37417535 37417535 single base substitution G A downstream_gene_variant MELA-AU 17 37417535 37417535 single base substitution G A intron_variant MELA-AU 17 37417579 37417579 single base substitution G A 3_prime_UTR_variant MELA-AU 17 37417579 37417579 single base substitution G A downstream_gene_variant MELA-AU 17 37417579 37417579 single base substitution G A intron_variant MELA-AU 17 37417633 37417633 single base substitution T G 3_prime_UTR_variant MELA-AU 17 37417633 37417633 single base substitution T G downstream_gene_variant MELA-AU 17 37417633 37417633 single base substitution T G intron_variant MELA-AU 17 37417949 37417949 single base substitution G A downstream_gene_variant MELA-AU 17 37417949 37417949 single base substitution G A intron_variant MELA-AU 17 37419381 37419381 single base substitution C T downstream_gene_variant MELA-AU 17 37419381 37419381 single base substitution C T intron_variant MELA-AU 17 37419426 37419426 single base substitution G A downstream_gene_variant MELA-AU 17 37419426 37419426 single base substitution G A intron_variant MELA-AU 17 37419547 37419547 single base substitution C T downstream_gene_variant MELA-AU 17 37419547 37419547 single base substitution C T intron_variant MELA-AU 17 37419743 37419743 single base substitution G A downstream_gene_variant MELA-AU 17 37419743 37419743 single base substitution G A intron_variant MELA-AU 17 37419951 37419951 single base substitution G A downstream_gene_variant MELA-AU 17 37419951 37419951 single base substitution G A intron_variant MELA-AU 17 37420227 37420227 single base substitution G A 3_prime_UTR_variant MELA-AU 17 37420227 37420227 single base substitution G A intron_variant MELA-AU 17 37420431 37420431 single base substitution G A synonymous_variant L109L 327C>T MELA-AU 17 37420431 37420431 single base substitution G A synonymous_variant L368L 1104C>T MELA-AU 17 37420431 37420431 single base substitution G A synonymous_variant L400L 1200C>T MELA-AU 17 37420431 37420431 single base substitution G A synonymous_variant L402L 1206C>T MELA-AU 17 37420519 37420519 single base substitution G A missense_variant S339F 1016C>T MELA-AU 17 37420519 37420519 single base substitution G A missense_variant S371F 1112C>T MELA-AU 17 37420519 37420519 single base substitution G A missense_variant S373F 1118C>T MELA-AU 17 37420519 37420519 single base substitution G A missense_variant S80F 239C>T MELA-AU 17 37421012 37421012 single base substitution G A intron_variant MELA-AU 17 37421126 37421126 single base substitution G A intron_variant MELA-AU 17 37422372 37422373 multiple base substitution (>=2bp and <=200bp) AG CA intron_variant MELA-AU 17 37422770 37422770 single base substitution G A intron_variant MELA-AU 17 37423266 37423266 single base substitution G A intron_variant MELA-AU 17 37425010 37425010 single base substitution A C intron_variant MELA-AU 17 37425190 37425190 single base substitution G A intron_variant MELA-AU 17 37425321 37425321 single base substitution G A intron_variant MELA-AU 17 37426370 37426370 single base substitution C T intron_variant MELA-AU 17 37426663 37426663 single base substitution G A intron_variant MELA-AU 17 37426776 37426776 single base substitution G A intron_variant MELA-AU 17 37427783 37427784 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 37427783 37427784 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 37428060 37428060 single base substitution G A intron_variant MELA-AU 17 37428060 37428060 single base substitution G A upstream_gene_variant MELA-AU 17 37428174 37428174 deletion of <=200bp A - intron_variant MELA-AU 17 37428174 37428174 deletion of <=200bp A - upstream_gene_variant MELA-AU 17 37428962 37428962 single base substitution A T intron_variant MELA-AU 17 37428962 37428962 single base substitution A T upstream_gene_variant MELA-AU 17 37429263 37429263 single base substitution G A intron_variant MELA-AU 17 37429263 37429263 single base substitution G A upstream_gene_variant MELA-AU 17 37430000 37430000 single base substitution G A intron_variant MELA-AU 17 37430000 37430000 single base substitution G A upstream_gene_variant MELA-AU 17 37430320 37430320 single base substitution G A intron_variant MELA-AU 17 37430320 37430320 single base substitution G A upstream_gene_variant MELA-AU 17 37430998 37430998 single base substitution G A intron_variant MELA-AU 17 37430998 37430998 single base substitution G A upstream_gene_variant MELA-AU 17 37431158 37431158 single base substitution G A intron_variant MELA-AU 17 37431158 37431158 single base substitution G A upstream_gene_variant MELA-AU 17 37431176 37431176 single base substitution G A intron_variant MELA-AU 17 37431176 37431176 single base substitution G A upstream_gene_variant MELA-AU 17 37432581 37432581 single base substitution G A intron_variant MELA-AU 17 37432622 37432622 single base substitution G A intron_variant MELA-AU 17 37434019 37434019 single base substitution A T intron_variant MELA-AU 17 37434881 37434881 single base substitution A G intron_variant MELA-AU 17 37435384 37435384 single base substitution G A intron_variant MELA-AU 17 37435481 37435482 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 17 37435520 37435520 single base substitution G C intron_variant MELA-AU 17 37436577 37436577 single base substitution A G intron_variant MELA-AU 17 37436590 37436590 single base substitution G A intron_variant MELA-AU 17 37437724 37437724 single base substitution G A splice_region_variant MELA-AU 17 37437827 37437827 single base substitution C T intron_variant MELA-AU 17 37438038 37438038 single base substitution G A intron_variant MELA-AU 17 37438766 37438766 single base substitution C T intron_variant MELA-AU 17 37439073 37439073 single base substitution G A missense_variant S145F 434C>T MELA-AU 17 37439073 37439073 single base substitution G A missense_variant S177F 530C>T MELA-AU 17 37439073 37439073 single base substitution G A missense_variant S179F 536C>T MELA-AU 17 37439196 37439196 single base substitution G A intron_variant MELA-AU 17 37440072 37440072 single base substitution G A intron_variant MELA-AU 17 37440367 37440367 single base substitution C T intron_variant MELA-AU 17 37440489 37440489 single base substitution G A intron_variant MELA-AU 17 37440941 37440941 single base substitution G A intron_variant MELA-AU 17 37441187 37441187 single base substitution C T intron_variant MELA-AU 17 37441804 37441804 single base substitution A G intron_variant MELA-AU 17 37441804 37441804 single base substitution A G missense_variant F141L 421T>C MELA-AU 17 37441804 37441804 single base substitution A G missense_variant F143L 427T>C MELA-AU 17 37441837 37441837 single base substitution G A intron_variant MELA-AU 17 37442276 37442276 single base substitution G A intron_variant MELA-AU 17 37442561 37442561 single base substitution G A intron_variant MELA-AU 17 37442888 37442888 single base substitution C T intron_variant MELA-AU 17 37443530 37443530 single base substitution A G intron_variant MELA-AU 17 37443802 37443803 multiple base substitution (>=2bp and <=200bp) GA TT intron_variant MELA-AU 17 37443878 37443878 single base substitution G A intron_variant MELA-AU 17 37444432 37444432 single base substitution C T intron_variant MELA-AU 17 37444784 37444784 single base substitution G A intron_variant MELA-AU 17 37445364 37445364 single base substitution G A intron_variant MELA-AU 17 37446789 37446789 single base substitution C T intron_variant MELA-AU 17 37446921 37446921 single base substitution G A intron_variant MELA-AU 17 37447085 37447085 single base substitution G A intron_variant MELA-AU 17 37447218 37447218 single base substitution T C intron_variant MELA-AU 17 37447439 37447439 single base substitution C G intron_variant MELA-AU 17 37447464 37447464 single base substitution C G intron_variant MELA-AU 17 37447785 37447785 single base substitution C A intron_variant MELA-AU 17 37448492 37448492 single base substitution C T intron_variant MELA-AU 17 37449777 37449777 single base substitution G A intron_variant MELA-AU 17 37449953 37449953 single base substitution C T intron_variant MELA-AU 17 37450396 37450396 single base substitution G A intron_variant MELA-AU 17 37451057 37451057 single base substitution G A intron_variant MELA-AU 17 37451084 37451084 single base substitution G A intron_variant MELA-AU 17 37451250 37451250 single base substitution G A intron_variant MELA-AU 17 37451287 37451287 single base substitution G A intron_variant MELA-AU 17 37451555 37451555 single base substitution T A intron_variant MELA-AU 17 37452515 37452515 single base substitution G A intron_variant MELA-AU 17 37452651 37452651 single base substitution A G intron_variant MELA-AU 17 37453312 37453312 single base substitution G A intron_variant MELA-AU 17 37453481 37453481 single base substitution G A intron_variant MELA-AU 17 37453574 37453574 single base substitution G A intron_variant MELA-AU 17 37453770 37453770 single base substitution G A intron_variant MELA-AU 17 37454073 37454073 single base substitution C T intron_variant MELA-AU 17 37454123 37454123 single base substitution G A intron_variant MELA-AU 17 37454978 37454978 single base substitution T A intron_variant MELA-AU 17 37455186 37455186 single base substitution G A intron_variant MELA-AU 17 37455333 37455333 single base substitution C T missense_variant R80Q 239G>A MELA-AU 17 37455333 37455333 single base substitution C T missense_variant R82Q 245G>A MELA-AU 17 37455807 37455807 single base substitution G A intron_variant MELA-AU 17 37455842 37455843 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 37456326 37456326 single base substitution G A intron_variant MELA-AU 17 37456922 37456922 single base substitution C T intron_variant MELA-AU 17 37457142 37457142 single base substitution A T intron_variant MELA-AU 17 37457154 37457154 single base substitution C T intron_variant MELA-AU 17 37458727 37458727 single base substitution C T intron_variant MELA-AU 17 37459128 37459128 single base substitution G A intron_variant MELA-AU 17 37459444 37459444 single base substitution G A intron_variant MELA-AU 17 37459461 37459461 single base substitution G A intron_variant MELA-AU 17 37459711 37459711 single base substitution G A intron_variant MELA-AU 17 37460020 37460020 single base substitution G A intron_variant MELA-AU 17 37460527 37460527 single base substitution G A intron_variant MELA-AU 17 37461293 37461293 single base substitution G A intron_variant MELA-AU 17 37461908 37461908 single base substitution G A intron_variant MELA-AU 17 37462821 37462821 single base substitution A T intron_variant MELA-AU 17 37463143 37463143 single base substitution G A intron_variant MELA-AU 17 37464298 37464298 single base substitution G A intron_variant MELA-AU 17 37465304 37465304 single base substitution T A intron_variant MELA-AU 17 37465832 37465832 single base substitution G A intron_variant MELA-AU 17 37465889 37465889 single base substitution C T intron_variant MELA-AU 17 37466050 37466050 single base substitution A C intron_variant MELA-AU 17 37466894 37466894 single base substitution G A intron_variant MELA-AU 17 37467133 37467133 single base substitution G A intron_variant MELA-AU 17 37467166 37467166 single base substitution G A intron_variant MELA-AU 17 37467167 37467168 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 37467352 37467352 single base substitution C T intron_variant MELA-AU 17 37467718 37467718 single base substitution G A intron_variant MELA-AU 17 37469305 37469305 single base substitution G A intron_variant MELA-AU 17 37469755 37469755 single base substitution G A intron_variant MELA-AU 17 37470234 37470234 single base substitution G A intron_variant MELA-AU 17 37470408 37470408 single base substitution C T intron_variant MELA-AU 17 37470695 37470695 single base substitution T C intron_variant MELA-AU 17 37471256 37471256 single base substitution G A intron_variant MELA-AU 17 37471305 37471305 single base substitution C T intron_variant MELA-AU 17 37471406 37471406 single base substitution G A intron_variant MELA-AU 17 37471490 37471490 single base substitution G A intron_variant MELA-AU 17 37471615 37471615 single base substitution G A intron_variant MELA-AU 17 37472018 37472018 single base substitution G A intron_variant MELA-AU 17 37472064 37472064 single base substitution G A intron_variant MELA-AU 17 37472069 37472069 single base substitution T A intron_variant MELA-AU 17 37472408 37472408 single base substitution G A intron_variant MELA-AU 17 37472681 37472681 single base substitution G A intron_variant MELA-AU 17 37473145 37473145 single base substitution G A intron_variant MELA-AU 17 37473433 37473433 single base substitution G A intron_variant MELA-AU 17 37473556 37473556 single base substitution C T intron_variant MELA-AU 17 37473646 37473646 single base substitution G A intron_variant MELA-AU 17 37473752 37473752 single base substitution G A intron_variant MELA-AU 17 37474451 37474452 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 17 37474461 37474461 single base substitution A G intron_variant MELA-AU 17 37474780 37474780 single base substitution G A intron_variant MELA-AU 17 37474812 37474812 single base substitution G A intron_variant MELA-AU 17 37475724 37475724 single base substitution G A intron_variant MELA-AU 17 37475902 37475902 single base substitution G A intron_variant MELA-AU 17 37476063 37476063 single base substitution C T intron_variant MELA-AU 17 37476982 37476982 single base substitution G A intron_variant MELA-AU 17 37477435 37477435 single base substitution G A intron_variant MELA-AU 17 37477466 37477466 single base substitution G A intron_variant MELA-AU 17 37477632 37477632 single base substitution G A intron_variant MELA-AU 17 37477777 37477777 single base substitution T A intron_variant MELA-AU 17 37478981 37478981 single base substitution T G intron_variant MELA-AU 17 37479339 37479339 single base substitution C T intron_variant MELA-AU 17 37479415 37479415 single base substitution G A intron_variant MELA-AU 17 37479460 37479460 single base substitution G A intron_variant MELA-AU 17 37479906 37479906 single base substitution T A intron_variant MELA-AU 17 37480208 37480208 single base substitution G A intron_variant MELA-AU 17 37480239 37480239 single base substitution G A intron_variant MELA-AU 17 37480309 37480310 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 37481257 37481257 single base substitution C T intron_variant MELA-AU 17 37481872 37481872 single base substitution G A intron_variant MELA-AU 17 37482017 37482017 single base substitution G A intron_variant MELA-AU 17 37482481 37482481 single base substitution A C intron_variant MELA-AU 17 37482733 37482733 single base substitution G A intron_variant MELA-AU 17 37482934 37482934 single base substitution T C intron_variant MELA-AU 17 37483003 37483003 single base substitution G A intron_variant MELA-AU 17 37483377 37483377 single base substitution G A intron_variant MELA-AU 17 37483701 37483701 single base substitution G A intron_variant MELA-AU 17 37484489 37484489 single base substitution G A intron_variant MELA-AU 17 37484592 37484592 single base substitution A C intron_variant MELA-AU 17 37484764 37484764 single base substitution G A intron_variant MELA-AU 17 37484870 37484871 multiple base substitution (>=2bp and <=200bp) CT TA intron_variant MELA-AU 17 37484886 37484886 single base substitution C A intron_variant MELA-AU 17 37485366 37485366 single base substitution G A intron_variant MELA-AU 17 37485448 37485448 single base substitution G A intron_variant MELA-AU 17 37485566 37485566 single base substitution G A intron_variant MELA-AU 17 37485611 37485611 single base substitution G A intron_variant MELA-AU 17 37487066 37487066 single base substitution C T intron_variant MELA-AU 17 37487607 37487607 single base substitution G A intron_variant MELA-AU 17 37487952 37487952 single base substitution A G intron_variant MELA-AU 17 37487959 37487959 single base substitution G A intron_variant MELA-AU 17 37489006 37489006 single base substitution G A intron_variant MELA-AU 17 37489681 37489681 single base substitution G A intron_variant MELA-AU 17 37489867 37489868 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 37489878 37489878 single base substitution G A intron_variant MELA-AU 17 37490171 37490171 single base substitution C T intron_variant MELA-AU 17 37490288 37490288 single base substitution G A intron_variant MELA-AU 17 37490297 37490297 single base substitution G A intron_variant MELA-AU 17 37490879 37490879 single base substitution A T intron_variant MELA-AU 17 37491050 37491050 single base substitution G A intron_variant MELA-AU 17 37492846 37492846 single base substitution A G intron_variant MELA-AU 17 37492952 37492952 single base substitution C T intron_variant MELA-AU 17 37493404 37493404 single base substitution G A intron_variant MELA-AU 17 37493431 37493431 single base substitution G A intron_variant MELA-AU 17 37493983 37493983 single base substitution G A intron_variant MELA-AU 17 37494068 37494069 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 37494129 37494129 single base substitution G A intron_variant MELA-AU 17 37494157 37494157 single base substitution G A intron_variant MELA-AU 17 37494811 37494811 single base substitution G A intron_variant MELA-AU 17 37495377 37495377 single base substitution T A intron_variant MELA-AU 17 37495396 37495396 single base substitution G A intron_variant MELA-AU 17 37497931 37497931 single base substitution G A intron_variant MELA-AU 17 37498398 37498398 single base substitution G A intron_variant MELA-AU 17 37499234 37499234 single base substitution G A intron_variant MELA-AU 17 37499432 37499432 single base substitution C T splice_donor_variant MELA-AU 17 37499691 37499691 single base substitution G A intron_variant MELA-AU 17 37500148 37500148 single base substitution A T intron_variant MELA-AU 17 37501463 37501463 single base substitution G A intron_variant MELA-AU 17 37501925 37501925 single base substitution C G intron_variant MELA-AU 17 37502343 37502343 single base substitution G A intron_variant MELA-AU 17 37502700 37502700 single base substitution G A intron_variant MELA-AU 17 37502722 37502722 single base substitution G A intron_variant MELA-AU 17 37503475 37503475 single base substitution G A intron_variant MELA-AU 17 37503836 37503836 single base substitution G A intron_variant MELA-AU 17 37504102 37504102 single base substitution A T intron_variant MELA-AU 17 37504498 37504498 single base substitution G A intron_variant MELA-AU 17 37505434 37505434 single base substitution G A intron_variant MELA-AU 17 37506099 37506099 single base substitution G A intron_variant MELA-AU 17 37506399 37506399 single base substitution G A intron_variant MELA-AU 17 37506887 37506887 single base substitution G A intron_variant MELA-AU 17 37506898 37506898 single base substitution G A intron_variant MELA-AU 17 37507050 37507050 single base substitution G A intron_variant MELA-AU 17 37507234 37507234 single base substitution G A intron_variant MELA-AU 17 37507439 37507439 single base substitution A G intron_variant MELA-AU 17 37507457 37507457 single base substitution T C intron_variant MELA-AU 17 37507799 37507799 single base substitution G A intron_variant MELA-AU 17 37508069 37508069 single base substitution A T intron_variant MELA-AU 17 37508198 37508198 single base substitution C T intron_variant MELA-AU 17 37508459 37508459 single base substitution G A intron_variant MELA-AU 17 37508462 37508462 single base substitution G A intron_variant MELA-AU 17 37509227 37509227 single base substitution G A intron_variant MELA-AU 17 37509279 37509279 single base substitution G A intron_variant MELA-AU 17 37509709 37509709 single base substitution C T intron_variant MELA-AU 17 37509852 37509852 insertion of <=200bp - CTTA intron_variant MELA-AU 17 37509856 37509856 single base substitution T C intron_variant MELA-AU 17 37510977 37510977 single base substitution A T intron_variant MELA-AU 17 37511454 37511454 single base substitution G A intron_variant MELA-AU 17 37511697 37511697 single base substitution C T intron_variant MELA-AU 17 37512085 37512085 single base substitution G A intron_variant MELA-AU 17 37512113 37512113 insertion of <=200bp - AAG intron_variant MELA-AU 17 37512294 37512294 single base substitution C T intron_variant MELA-AU 17 37512401 37512401 single base substitution G A intron_variant MELA-AU 17 37513161 37513161 single base substitution C T intron_variant MELA-AU 17 37513341 37513341 single base substitution A G intron_variant MELA-AU 17 37513421 37513421 single base substitution G A intron_variant MELA-AU 17 37514034 37514034 single base substitution T A intron_variant MELA-AU 17 37514579 37514579 single base substitution C T intron_variant MELA-AU 17 37515311 37515311 single base substitution G A intron_variant MELA-AU 17 37515858 37515858 single base substitution G A intron_variant MELA-AU 17 37516991 37516991 single base substitution G A intron_variant MELA-AU 17 37518113 37518113 single base substitution G A intron_variant MELA-AU 17 37518556 37518556 single base substitution G A intron_variant MELA-AU 17 37519487 37519487 single base substitution G A intron_variant MELA-AU 17 37519537 37519537 single base substitution G A intron_variant MELA-AU 17 37519974 37519974 single base substitution G A intron_variant MELA-AU 17 37520691 37520691 single base substitution C G intron_variant MELA-AU 17 37521136 37521136 single base substitution G A intron_variant MELA-AU 17 37521659 37521659 single base substitution G A intron_variant MELA-AU 17 37521699 37521699 single base substitution A T intron_variant MELA-AU 17 37522313 37522313 single base substitution G A intron_variant MELA-AU 17 37523552 37523552 single base substitution C T intron_variant MELA-AU 17 37523873 37523873 single base substitution C T intron_variant MELA-AU 17 37524131 37524131 single base substitution C A intron_variant MELA-AU 17 37524463 37524463 single base substitution G A intron_variant MELA-AU 17 37525044 37525044 single base substitution G A intron_variant MELA-AU 17 37525177 37525177 single base substitution G A intron_variant MELA-AU 17 37526280 37526280 single base substitution G A intron_variant MELA-AU 17 37526387 37526387 single base substitution G A intron_variant MELA-AU 17 37526736 37526736 single base substitution A G intron_variant MELA-AU 17 37527398 37527398 single base substitution G A intron_variant MELA-AU 17 37527554 37527554 single base substitution A T intron_variant MELA-AU 17 37527740 37527740 single base substitution G A intron_variant MELA-AU 17 37527804 37527804 single base substitution G A intron_variant MELA-AU 17 37528277 37528282 deletion of <=200bp CATGAC - intron_variant MELA-AU 17 37529415 37529415 single base substitution G A intron_variant MELA-AU 17 37529449 37529449 single base substitution G A intron_variant MELA-AU 17 37529601 37529601 single base substitution G A intron_variant MELA-AU 17 37529697 37529697 single base substitution G A intron_variant MELA-AU 17 37529763 37529763 single base substitution C T intron_variant MELA-AU 17 37530573 37530573 single base substitution G A intron_variant MELA-AU 17 37531586 37531586 single base substitution C T intron_variant MELA-AU 17 37533054 37533054 single base substitution G A intron_variant MELA-AU 17 37534402 37534402 single base substitution G A intron_variant MELA-AU 17 37534718 37534718 single base substitution G A intron_variant MELA-AU 17 37534998 37534998 single base substitution G A intron_variant MELA-AU 17 37535161 37535161 single base substitution G A intron_variant MELA-AU 17 37535452 37535452 single base substitution G A intron_variant MELA-AU 17 37535534 37535534 single base substitution G A intron_variant MELA-AU 17 37535583 37535583 single base substitution G A intron_variant MELA-AU 17 37535776 37535776 single base substitution C T intron_variant MELA-AU 17 37536115 37536115 single base substitution C G intron_variant MELA-AU 17 37536552 37536552 single base substitution A T intron_variant MELA-AU 17 37537063 37537063 single base substitution G A intron_variant MELA-AU 17 37537835 37537835 single base substitution G A intron_variant MELA-AU 17 37538333 37538333 single base substitution G A intron_variant MELA-AU 17 37538528 37538528 single base substitution C T intron_variant MELA-AU 17 37538623 37538623 single base substitution G A intron_variant MELA-AU 17 37538901 37538901 single base substitution G C intron_variant MELA-AU 17 37538910 37538910 single base substitution G A intron_variant MELA-AU 17 37538987 37538988 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 37539978 37539978 single base substitution G A intron_variant MELA-AU 17 37540382 37540382 single base substitution G A intron_variant MELA-AU 17 37542357 37542357 single base substitution G A intron_variant MELA-AU 17 37542641 37542641 single base substitution G A intron_variant MELA-AU 17 37542796 37542796 single base substitution G A intron_variant MELA-AU 17 37542893 37542893 single base substitution A T intron_variant MELA-AU 17 37543361 37543361 single base substitution G A intron_variant MELA-AU 17 37543395 37543395 single base substitution G A intron_variant MELA-AU 17 37544249 37544249 single base substitution G A intron_variant MELA-AU 17 37544859 37544859 single base substitution C A intron_variant MELA-AU 17 37545130 37545130 single base substitution G A intron_variant MELA-AU 17 37545251 37545251 single base substitution G A intron_variant MELA-AU 17 37546365 37546365 single base substitution C T intron_variant MELA-AU 17 37546899 37546899 single base substitution G A intron_variant MELA-AU 17 37547195 37547195 single base substitution G A intron_variant MELA-AU 17 37547737 37547737 single base substitution T C intron_variant MELA-AU 17 37547809 37547809 single base substitution A T intron_variant MELA-AU 17 37548100 37548100 single base substitution G A intron_variant MELA-AU 17 37548317 37548317 single base substitution G A intron_variant MELA-AU 17 37548721 37548721 single base substitution A T intron_variant MELA-AU 17 37548771 37548771 single base substitution T C intron_variant MELA-AU 17 37549085 37549085 single base substitution G A intron_variant MELA-AU 17 37549246 37549246 single base substitution C T intron_variant MELA-AU 17 37549334 37549334 single base substitution G A intron_variant MELA-AU 17 37549841 37549841 single base substitution G A intron_variant MELA-AU 17 37551070 37551070 single base substitution C T intron_variant MELA-AU 17 37551623 37551623 single base substitution G T intron_variant MELA-AU 17 37552428 37552428 single base substitution G A intron_variant MELA-AU 17 37552861 37552861 single base substitution A G intron_variant MELA-AU 17 37553730 37553730 single base substitution A C intron_variant MELA-AU 17 37553767 37553768 multiple base substitution (>=2bp and <=200bp) CT AC intron_variant MELA-AU 17 37554398 37554399 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 37554523 37554523 single base substitution A T intron_variant MELA-AU 17 37554949 37554949 single base substitution G A intron_variant MELA-AU 17 37555177 37555177 single base substitution C T intron_variant MELA-AU 17 37555226 37555226 single base substitution C A intron_variant MELA-AU 17 37555485 37555485 single base substitution C T intron_variant MELA-AU 17 37557413 37557413 single base substitution G A intron_variant MELA-AU 17 37557559 37557559 single base substitution G A intron_variant MELA-AU 17 37557809 37557809 single base substitution G C 5_prime_UTR_variant MELA-AU 17 37557809 37557809 single base substitution G C intron_variant MELA-AU 17 37558559 37558559 single base substitution C T 5_prime_UTR_variant MELA-AU 17 37558559 37558559 single base substitution C T upstream_gene_variant MELA-AU 17 37558837 37558837 single base substitution C T upstream_gene_variant MELA-AU 17 37560401 37560401 single base substitution C T upstream_gene_variant MELA-AU 17 37560870 37560870 single base substitution G A upstream_gene_variant MELA-AU 17 37561019 37561019 single base substitution T C upstream_gene_variant MELA-AU 17 37561118 37561118 single base substitution A C upstream_gene_variant MELA-AU 17 37561593 37561593 single base substitution C T upstream_gene_variant MELA-AU 17 37561673 37561673 single base substitution G A upstream_gene_variant MELA-AU 17 37561743 37561743 single base substitution G A upstream_gene_variant MELA-AU 17 37561961 37561961 single base substitution G A upstream_gene_variant MELA-AU 17 37562530 37562530 single base substitution G C upstream_gene_variant MELA-AU 17 37562635 37562635 single base substitution G A upstream_gene_variant ORCA-IN 17 37419377 37419377 single base substitution T C downstream_gene_variant ORCA-IN 17 37419377 37419377 single base substitution T C intron_variant ORCA-IN 17 37420828 37420828 single base substitution G A intron_variant ORCA-IN 17 37466886 37466886 single base substitution G C intron_variant ORCA-IN 17 37469658 37469658 single base substitution G C intron_variant ORCA-IN 17 37474364 37474364 single base substitution T C intron_variant ORCA-IN 17 37475716 37475716 single base substitution G C intron_variant ORCA-IN 17 37476974 37476974 single base substitution A C intron_variant ORCA-IN 17 37506571 37506571 single base substitution C T intron_variant ORCA-IN 17 37524289 37524289 single base substitution T C intron_variant ORCA-IN 17 37537052 37537052 single base substitution A C intron_variant ORCA-IN 17 37550943 37550943 single base substitution G A intron_variant ORCA-IN 17 37557194 37557194 single base substitution C T intron_variant ORCA-IN 17 37561713 37561713 deletion of <=200bp T - upstream_gene_variant ORCA-IN 17 37562813 37562813 deletion of <=200bp T - upstream_gene_variant OV-AU 17 37423485 37423485 single base substitution C G intron_variant OV-AU 17 37441545 37441545 single base substitution T A intron_variant OV-AU 17 37447371 37447371 single base substitution C T intron_variant OV-AU 17 37477276 37477276 single base substitution A T intron_variant OV-AU 17 37479323 37479323 single base substitution C T intron_variant OV-AU 17 37486853 37486853 single base substitution G C intron_variant OV-AU 17 37500021 37500021 single base substitution T G intron_variant OV-AU 17 37509990 37509990 single base substitution C T intron_variant OV-AU 17 37515437 37515437 single base substitution A C intron_variant OV-AU 17 37519122 37519122 single base substitution C T intron_variant OV-AU 17 37519965 37519965 single base substitution G C intron_variant OV-AU 17 37522243 37522243 single base substitution T A intron_variant OV-AU 17 37522251 37522251 single base substitution T A intron_variant OV-AU 17 37537288 37537288 single base substitution C A intron_variant OV-AU 17 37541995 37541995 single base substitution G C intron_variant OV-AU 17 37542241 37542241 single base substitution C A intron_variant OV-AU 17 37544861 37544861 single base substitution C T intron_variant OV-AU 17 37552377 37552377 single base substitution G T intron_variant OV-AU 17 37563103 37563103 single base substitution G A upstream_gene_variant PACA-AU 17 37412605 37412605 single base substitution G A downstream_gene_variant PACA-AU 17 37413233 37413236 deletion of <=200bp TTTC - downstream_gene_variant PACA-AU 17 37414622 37414622 deletion of <=200bp A - downstream_gene_variant PACA-AU 17 37415666 37415666 single base substitution C T downstream_gene_variant PACA-AU 17 37415666 37415666 single base substitution C T intron_variant PACA-AU 17 37418386 37418395 deletion of <=200bp AAATGGCTGC - downstream_gene_variant PACA-AU 17 37418386 37418395 deletion of <=200bp AAATGGCTGC - intron_variant PACA-AU 17 37418474 37418474 single base substitution C G downstream_gene_variant PACA-AU 17 37418474 37418474 single base substitution C G intron_variant PACA-AU 17 37421934 37421934 deletion of <=200bp A - intron_variant PACA-AU 17 37439200 37439200 single base substitution G A intron_variant PACA-AU 17 37439967 37439967 single base substitution T C intron_variant PACA-AU 17 37441790 37441790 single base substitution G C intron_variant PACA-AU 17 37441790 37441790 single base substitution G C synonymous_variant L145L 435C>G PACA-AU 17 37441790 37441790 single base substitution G C synonymous_variant L147L 441C>G PACA-AU 17 37441904 37441904 single base substitution T C intron_variant PACA-AU 17 37443825 37443825 deletion of <=200bp A - intron_variant PACA-AU 17 37444529 37444529 single base substitution C A intron_variant PACA-AU 17 37445200 37445200 insertion of <=200bp - CCCA intron_variant PACA-AU 17 37450303 37450303 single base substitution A T intron_variant PACA-AU 17 37453842 37453842 single base substitution G A intron_variant PACA-AU 17 37455472 37455472 single base substitution C T intron_variant PACA-AU 17 37465242 37465242 single base substitution G A intron_variant PACA-AU 17 37469235 37469235 single base substitution G A intron_variant PACA-AU 17 37471052 37471052 insertion of <=200bp - TC intron_variant PACA-AU 17 37474206 37474206 single base substitution G A intron_variant PACA-AU 17 37477408 37477408 single base substitution T C intron_variant PACA-AU 17 37477573 37477573 single base substitution C T intron_variant PACA-AU 17 37477717 37477717 single base substitution C T intron_variant PACA-AU 17 37479160 37479160 single base substitution C T intron_variant PACA-AU 17 37484560 37484560 single base substitution A G intron_variant PACA-AU 17 37492247 37492247 single base substitution C T intron_variant PACA-AU 17 37496632 37496632 single base substitution G A intron_variant PACA-AU 17 37498253 37498253 single base substitution G T intron_variant PACA-AU 17 37498527 37498527 single base substitution A T intron_variant PACA-AU 17 37502245 37502245 single base substitution A G intron_variant PACA-AU 17 37502839 37502839 single base substitution G C intron_variant PACA-AU 17 37511113 37511113 single base substitution A C intron_variant PACA-AU 17 37511814 37511814 single base substitution A G intron_variant PACA-AU 17 37512891 37512891 single base substitution G C intron_variant PACA-AU 17 37518556 37518556 single base substitution G T intron_variant PACA-AU 17 37519122 37519122 single base substitution C T intron_variant PACA-AU 17 37524037 37524037 single base substitution C G intron_variant PACA-AU 17 37527553 37527553 single base substitution T A intron_variant PACA-AU 17 37528409 37528410 deletion of <=200bp AT - intron_variant PACA-AU 17 37538292 37538292 single base substitution G A intron_variant PACA-AU 17 37538533 37538533 deletion of <=200bp A - intron_variant PACA-AU 17 37538650 37538650 single base substitution C T intron_variant PACA-AU 17 37541576 37541576 insertion of <=200bp - ACAC intron_variant PACA-AU 17 37548877 37548877 single base substitution T G intron_variant PACA-AU 17 37553112 37553112 single base substitution C T intron_variant PACA-AU 17 37554248 37554248 single base substitution C T intron_variant PACA-AU 17 37554562 37554562 single base substitution C A intron_variant PACA-AU 17 37554801 37554801 single base substitution G T intron_variant PACA-AU 17 37559799 37559799 single base substitution C T upstream_gene_variant PACA-CA 17 37415004 37415004 single base substitution A T downstream_gene_variant PACA-CA 17 37416445 37416445 single base substitution C T downstream_gene_variant PACA-CA 17 37416445 37416445 single base substitution C T intron_variant PACA-CA 17 37424035 37424035 single base substitution G A intron_variant PACA-CA 17 37424265 37424265 single base substitution G T intron_variant PACA-CA 17 37428466 37428466 single base substitution C T intron_variant PACA-CA 17 37428466 37428466 single base substitution C T upstream_gene_variant PACA-CA 17 37431752 37431752 single base substitution C A intron_variant PACA-CA 17 37431752 37431752 single base substitution C A upstream_gene_variant PACA-CA 17 37435610 37435610 insertion of <=200bp - GT intron_variant PACA-CA 17 37436024 37436024 single base substitution G A intron_variant PACA-CA 17 37438355 37438355 single base substitution T G intron_variant PACA-CA 17 37438568 37438568 single base substitution G A intron_variant PACA-CA 17 37438940 37438940 single base substitution C G intron_variant PACA-CA 17 37441560 37441560 single base substitution A T intron_variant PACA-CA 17 37441846 37441846 single base substitution G T intron_variant PACA-CA 17 37444960 37444960 single base substitution C T intron_variant PACA-CA 17 37450707 37450707 single base substitution T C intron_variant PACA-CA 17 37451495 37451495 single base substitution G A intron_variant PACA-CA 17 37457829 37457829 single base substitution A C intron_variant PACA-CA 17 37461021 37461021 single base substitution G T intron_variant PACA-CA 17 37461266 37461266 single base substitution C T intron_variant PACA-CA 17 37463573 37463573 single base substitution T C intron_variant PACA-CA 17 37466431 37466431 single base substitution C A intron_variant PACA-CA 17 37469413 37469413 single base substitution G A intron_variant PACA-CA 17 37471449 37471449 single base substitution C T intron_variant PACA-CA 17 37476133 37476133 single base substitution G C intron_variant PACA-CA 17 37481155 37481155 single base substitution A C intron_variant PACA-CA 17 37484787 37484787 single base substitution G T intron_variant PACA-CA 17 37485221 37485221 single base substitution T A intron_variant PACA-CA 17 37485659 37485659 single base substitution T A intron_variant PACA-CA 17 37487870 37487870 single base substitution G C intron_variant PACA-CA 17 37496726 37496726 single base substitution G A intron_variant PACA-CA 17 37496968 37496968 single base substitution C T intron_variant PACA-CA 17 37497760 37497762 deletion of <=200bp AAT - intron_variant PACA-CA 17 37497764 37497768 deletion of <=200bp TTGAA - intron_variant PACA-CA 17 37501497 37501497 single base substitution G A intron_variant PACA-CA 17 37503040 37503040 single base substitution C T intron_variant PACA-CA 17 37508770 37508770 single base substitution T A intron_variant PACA-CA 17 37509539 37509539 single base substitution C T intron_variant PACA-CA 17 37515422 37515422 deletion of <=200bp A - intron_variant PACA-CA 17 37517332 37517332 single base substitution C T intron_variant PACA-CA 17 37522293 37522293 single base substitution G A intron_variant PACA-CA 17 37523432 37523432 single base substitution A G intron_variant PACA-CA 17 37523496 37523496 single base substitution T C intron_variant PACA-CA 17 37525893 37525893 single base substitution C T intron_variant PACA-CA 17 37534808 37534808 single base substitution T C intron_variant PACA-CA 17 37536991 37536991 single base substitution C T intron_variant PACA-CA 17 37536992 37536992 single base substitution G A intron_variant PACA-CA 17 37538612 37538612 single base substitution C T intron_variant PACA-CA 17 37538651 37538651 single base substitution G A intron_variant PACA-CA 17 37539906 37539906 single base substitution G A intron_variant PACA-CA 17 37540142 37540142 single base substitution T C intron_variant PACA-CA 17 37544556 37544556 deletion of <=200bp A - intron_variant PACA-CA 17 37548203 37548203 single base substitution T G intron_variant PACA-CA 17 37555798 37555798 single base substitution C T intron_variant PACA-CA 17 37556565 37556565 single base substitution C A intron_variant PACA-CA 17 37558504 37558504 single base substitution G T 5_prime_UTR_variant PACA-CA 17 37558504 37558504 single base substitution G T upstream_gene_variant PACA-CA 17 37559565 37559565 single base substitution G A upstream_gene_variant PAEN-AU 17 37452636 37452636 single base substitution A C intron_variant PAEN-AU 17 37471393 37471393 single base substitution C T intron_variant PAEN-AU 17 37474145 37474145 single base substitution G A intron_variant PAEN-AU 17 37479316 37479316 single base substitution G A intron_variant PAEN-AU 17 37495496 37495496 single base substitution A T intron_variant PAEN-AU 17 37495992 37495992 single base substitution C T intron_variant PAEN-AU 17 37517140 37517140 single base substitution C T intron_variant PAEN-AU 17 37518414 37518414 single base substitution C T intron_variant PAEN-AU 17 37549040 37549040 single base substitution T G intron_variant PAEN-IT 17 37423182 37423182 single base substitution G A intron_variant PAEN-IT 17 37452100 37452100 single base substitution C T intron_variant PAEN-IT 17 37475744 37475744 single base substitution C T intron_variant PAEN-IT 17 37484611 37484611 single base substitution C T intron_variant PAEN-IT 17 37515360 37515360 single base substitution T C intron_variant PAEN-IT 17 37517413 37517413 single base substitution C A intron_variant PAEN-IT 17 37540997 37540997 single base substitution C A intron_variant PBCA-DE 17 37421939 37421939 single base substitution A T intron_variant PBCA-DE 17 37431192 37431192 insertion of <=200bp - G intron_variant PBCA-DE 17 37431192 37431192 insertion of <=200bp - G upstream_gene_variant PBCA-DE 17 37444604 37444604 single base substitution G A intron_variant PBCA-DE 17 37448710 37448710 single base substitution G A intron_variant PBCA-DE 17 37458178 37458178 single base substitution G C intron_variant PBCA-DE 17 37474680 37474680 single base substitution G A intron_variant PBCA-DE 17 37475766 37475766 single base substitution C T intron_variant PBCA-DE 17 37489444 37489444 insertion of <=200bp - G intron_variant PBCA-DE 17 37497414 37497414 single base substitution C T intron_variant PBCA-DE 17 37497820 37497821 deletion of <=200bp TA - intron_variant PBCA-DE 17 37513797 37513797 single base substitution G A intron_variant PBCA-DE 17 37523594 37523594 single base substitution G C intron_variant PBCA-DE 17 37525076 37525076 deletion of <=200bp T - intron_variant PBCA-DE 17 37533713 37533713 single base substitution C T intron_variant PBCA-DE 17 37543433 37543435 deletion of <=200bp GAT - intron_variant PBCA-DE 17 37553746 37553746 single base substitution C G intron_variant PBCA-DE 17 37561123 37561123 single base substitution A C upstream_gene_variant PRAD-CA 17 37410649 37410649 single base substitution G A downstream_gene_variant PRAD-CA 17 37420268 37420268 single base substitution A C 3_prime_UTR_variant PRAD-CA 17 37420268 37420268 single base substitution A C intron_variant PRAD-CA 17 37425971 37425971 single base substitution G A intron_variant PRAD-CA 17 37447044 37447044 single base substitution G C intron_variant PRAD-CA 17 37473943 37473943 single base substitution T G intron_variant PRAD-CA 17 37478728 37478728 single base substitution T C intron_variant PRAD-CA 17 37516268 37516268 single base substitution A C intron_variant PRAD-CA 17 37540861 37540861 single base substitution G A intron_variant PRAD-UK 17 37414038 37414038 single base substitution A T downstream_gene_variant PRAD-UK 17 37442712 37442712 single base substitution C T intron_variant PRAD-UK 17 37458720 37458720 single base substitution G A intron_variant PRAD-UK 17 37461048 37461048 insertion of <=200bp - T intron_variant PRAD-UK 17 37492357 37492357 single base substitution G C intron_variant PRAD-UK 17 37497069 37497099 deletion of <=200bp AAGTAATTTTGAACCATTACTTAAAACTTTT - intron_variant PRAD-UK 17 37498970 37498970 insertion of <=200bp - A intron_variant PRAD-UK 17 37498977 37498977 insertion of <=200bp - A intron_variant PRAD-UK 17 37512574 37512574 single base substitution T A intron_variant PRAD-UK 17 37527004 37527004 single base substitution C T intron_variant PRAD-UK 17 37542745 37542745 single base substitution C T intron_variant PRAD-UK 17 37543749 37543749 single base substitution C T intron_variant PRAD-UK 17 37556220 37556222 deletion of <=200bp CGT - intron_variant PRAD-UK 17 37556222 37556222 single base substitution T A intron_variant READ-US 17 37417794 37417794 single base substitution G A downstream_gene_variant READ-US 17 37417794 37417794 single base substitution G A synonymous_variant H378H 1134C>T READ-US 17 37417794 37417794 single base substitution G A synonymous_variant H410H 1230C>T READ-US 17 37417794 37417794 single base substitution G A synonymous_variant H412H 1236C>T RECA-EU 17 37411089 37411089 single base substitution T C downstream_gene_variant RECA-EU 17 37418212 37418212 single base substitution G C downstream_gene_variant RECA-EU 17 37418212 37418212 single base substitution G C intron_variant RECA-EU 17 37426439 37426439 single base substitution T C intron_variant RECA-EU 17 37428967 37428967 single base substitution A G intron_variant RECA-EU 17 37428967 37428967 single base substitution A G upstream_gene_variant RECA-EU 17 37429234 37429234 single base substitution T G intron_variant RECA-EU 17 37429234 37429234 single base substitution T G upstream_gene_variant RECA-EU 17 37436139 37436139 single base substitution T A intron_variant RECA-EU 17 37442994 37442994 single base substitution C T intron_variant RECA-EU 17 37453952 37453952 single base substitution C T intron_variant RECA-EU 17 37455876 37455876 single base substitution T C intron_variant RECA-EU 17 37460939 37460939 single base substitution G T intron_variant RECA-EU 17 37464619 37464619 single base substitution A G intron_variant RECA-EU 17 37478048 37478048 single base substitution A T intron_variant RECA-EU 17 37498051 37498051 single base substitution T A intron_variant RECA-EU 17 37499579 37499579 single base substitution C T intron_variant RECA-EU 17 37524939 37524939 single base substitution C T intron_variant RECA-EU 17 37525601 37525601 single base substitution C A intron_variant RECA-EU 17 37532728 37532728 single base substitution C T intron_variant RECA-EU 17 37547222 37547222 single base substitution C A intron_variant RECA-EU 17 37553633 37553633 single base substitution A C intron_variant RECA-EU 17 37556828 37556828 single base substitution C T intron_variant SKCA-BR 17 37411621 37411621 single base substitution T G downstream_gene_variant SKCA-BR 17 37412002 37412002 single base substitution G A downstream_gene_variant SKCA-BR 17 37414508 37414508 single base substitution G A downstream_gene_variant SKCA-BR 17 37414675 37414675 single base substitution G A downstream_gene_variant SKCA-BR 17 37414676 37414676 single base substitution A T downstream_gene_variant SKCA-BR 17 37415768 37415768 single base substitution G A downstream_gene_variant SKCA-BR 17 37415768 37415768 single base substitution G A intron_variant SKCA-BR 17 37419071 37419071 single base substitution G A downstream_gene_variant SKCA-BR 17 37419071 37419071 single base substitution G A intron_variant SKCA-BR 17 37420016 37420016 single base substitution G A downstream_gene_variant SKCA-BR 17 37420016 37420016 single base substitution G A intron_variant SKCA-BR 17 37421359 37421359 single base substitution G A intron_variant SKCA-BR 17 37421939 37421939 single base substitution A T intron_variant SKCA-BR 17 37423672 37423672 single base substitution G A intron_variant SKCA-BR 17 37428969 37428969 single base substitution A G intron_variant SKCA-BR 17 37428969 37428969 single base substitution A G upstream_gene_variant SKCA-BR 17 37430074 37430074 insertion of <=200bp - GA intron_variant SKCA-BR 17 37430074 37430074 insertion of <=200bp - GA upstream_gene_variant SKCA-BR 17 37435810 37435810 single base substitution C T intron_variant SKCA-BR 17 37438679 37438679 single base substitution C G intron_variant SKCA-BR 17 37438741 37438741 single base substitution A T intron_variant SKCA-BR 17 37438961 37438961 single base substitution G A intron_variant SKCA-BR 17 37447218 37447218 single base substitution T C intron_variant SKCA-BR 17 37447684 37447684 single base substitution C T intron_variant SKCA-BR 17 37448104 37448104 single base substitution T C intron_variant SKCA-BR 17 37449141 37449141 single base substitution G T intron_variant SKCA-BR 17 37449744 37449744 single base substitution G A intron_variant SKCA-BR 17 37451193 37451193 single base substitution A G intron_variant SKCA-BR 17 37451892 37451892 single base substitution G A intron_variant SKCA-BR 17 37453995 37453995 single base substitution G A intron_variant SKCA-BR 17 37462407 37462407 insertion of <=200bp - CTT intron_variant SKCA-BR 17 37462789 37462789 single base substitution T C intron_variant SKCA-BR 17 37472389 37472389 single base substitution G A intron_variant SKCA-BR 17 37473015 37473015 single base substitution T G intron_variant SKCA-BR 17 37474920 37474920 single base substitution G A intron_variant SKCA-BR 17 37475926 37475927 deletion of <=200bp CA - intron_variant SKCA-BR 17 37476845 37476845 insertion of <=200bp - AT intron_variant SKCA-BR 17 37480261 37480261 insertion of <=200bp - AC intron_variant SKCA-BR 17 37480267 37480267 single base substitution T C intron_variant SKCA-BR 17 37483099 37483099 insertion of <=200bp - TTGAACTC intron_variant SKCA-BR 17 37485366 37485366 single base substitution G A intron_variant SKCA-BR 17 37490780 37490780 single base substitution G T intron_variant SKCA-BR 17 37490782 37490782 insertion of <=200bp - CA intron_variant SKCA-BR 17 37491858 37491858 single base substitution G A intron_variant SKCA-BR 17 37493331 37493331 single base substitution C T intron_variant SKCA-BR 17 37493984 37493984 single base substitution G A intron_variant SKCA-BR 17 37495495 37495495 single base substitution A G intron_variant SKCA-BR 17 37495910 37495911 deletion of <=200bp CT - intron_variant SKCA-BR 17 37496875 37496875 single base substitution A G intron_variant SKCA-BR 17 37498877 37498877 single base substitution G A intron_variant SKCA-BR 17 37500793 37500793 single base substitution C T intron_variant SKCA-BR 17 37501591 37501591 single base substitution C T intron_variant SKCA-BR 17 37502700 37502700 single base substitution G A intron_variant SKCA-BR 17 37504580 37504580 single base substitution G A intron_variant SKCA-BR 17 37507592 37507592 insertion of <=200bp - CA intron_variant SKCA-BR 17 37507610 37507610 single base substitution G A intron_variant SKCA-BR 17 37508712 37508712 single base substitution G A intron_variant SKCA-BR 17 37512108 37512108 insertion of <=200bp - CAA intron_variant SKCA-BR 17 37512476 37512476 single base substitution A T intron_variant SKCA-BR 17 37513528 37513528 insertion of <=200bp - CA intron_variant SKCA-BR 17 37516005 37516005 single base substitution C A intron_variant SKCA-BR 17 37518302 37518302 single base substitution A C intron_variant SKCA-BR 17 37518601 37518601 single base substitution C T intron_variant SKCA-BR 17 37520800 37520800 single base substitution T G intron_variant SKCA-BR 17 37524323 37524323 single base substitution A C intron_variant SKCA-BR 17 37530452 37530452 single base substitution T A intron_variant SKCA-BR 17 37534479 37534479 single base substitution G A intron_variant SKCA-BR 17 37535411 37535411 single base substitution G A intron_variant SKCA-BR 17 37538695 37538697 deletion of <=200bp CAA - intron_variant SKCA-BR 17 37540881 37540881 single base substitution G A intron_variant SKCA-BR 17 37541211 37541211 single base substitution G A intron_variant SKCA-BR 17 37541664 37541664 single base substitution G A intron_variant SKCA-BR 17 37542421 37542421 single base substitution C T intron_variant SKCA-BR 17 37543449 37543449 single base substitution T G intron_variant SKCA-BR 17 37547540 37547540 single base substitution G A intron_variant SKCA-BR 17 37548830 37548830 single base substitution A G intron_variant SKCA-BR 17 37550274 37550274 single base substitution G A intron_variant SKCA-BR 17 37552408 37552408 single base substitution T G intron_variant SKCA-BR 17 37552411 37552411 single base substitution C T intron_variant SKCA-BR 17 37552432 37552432 single base substitution T A intron_variant SKCA-BR 17 37554298 37554298 insertion of <=200bp - GA intron_variant SKCA-BR 17 37557991 37557991 single base substitution A G intron_variant SKCA-BR 17 37557991 37557991 single base substitution A G upstream_gene_variant SKCA-BR 17 37557996 37557996 single base substitution A G intron_variant SKCA-BR 17 37557996 37557996 single base substitution A G upstream_gene_variant SKCA-BR 17 37558029 37558029 single base substitution T C intron_variant SKCA-BR 17 37558029 37558029 single base substitution T C upstream_gene_variant SKCA-BR 17 37558804 37558804 single base substitution T G upstream_gene_variant SKCA-BR 17 37559427 37559428 deletion of <=200bp TC - upstream_gene_variant SKCA-BR 17 37563455 37563455 single base substitution T C upstream_gene_variant SKCM-US 17 37417768 37417768 single base substitution G A downstream_gene_variant SKCM-US 17 37417768 37417768 single base substitution G A missense_variant P387L 1160C>T SKCM-US 17 37417768 37417768 single base substitution G A missense_variant P419L 1256C>T SKCM-US 17 37417768 37417768 single base substitution G A missense_variant P421L 1262C>T SKCM-US 17 37420601 37420601 single base substitution G A missense_variant R312C 934C>T SKCM-US 17 37420601 37420601 single base substitution G A missense_variant R344C 1030C>T SKCM-US 17 37420601 37420601 single base substitution G A missense_variant R346C 1036C>T SKCM-US 17 37420601 37420601 single base substitution G A missense_variant R53C 157C>T SKCM-US 17 37455277 37455277 single base substitution G A missense_variant R101C 301C>T SKCM-US 17 37455277 37455277 single base substitution G A missense_variant R99C 295C>T STAD-US 17 37420479 37420479 single base substitution T C missense_variant I352M 1056A>G STAD-US 17 37420479 37420479 single base substitution T C missense_variant I384M 1152A>G STAD-US 17 37420479 37420479 single base substitution T C missense_variant I386M 1158A>G STAD-US 17 37420479 37420479 single base substitution T C missense_variant I93M 279A>G STAD-US 17 37420566 37420566 single base substitution C T synonymous_variant Q323Q 969G>A STAD-US 17 37420566 37420566 single base substitution C T synonymous_variant Q355Q 1065G>A STAD-US 17 37420566 37420566 single base substitution C T synonymous_variant Q357Q 1071G>A STAD-US 17 37420566 37420566 single base substitution C T synonymous_variant Q64Q 192G>A STAD-US 17 37455249 37455249 single base substitution G T missense_variant A108E 323C>A STAD-US 17 37455249 37455249 single base substitution G T missense_variant A110E 329C>A STAD-US 17 37455285 37455285 single base substitution A T stop_gained L96* 287T>A STAD-US 17 37455285 37455285 single base substitution A T stop_gained L98* 293T>A STAD-US 17 37455302 37455302 single base substitution C T synonymous_variant G90G 270G>A STAD-US 17 37455302 37455302 single base substitution C T synonymous_variant G92G 276G>A THCA-SA 17 37561613 37561613 single base substitution A G upstream_gene_variant THCA-SA 17 37563567 37563567 single base substitution G A upstream_gene_variant THCA-US 17 37431233 37431233 single base substitution G A missense_variant P241S 721C>T THCA-US 17 37431233 37431233 single base substitution G A missense_variant P273S 817C>T THCA-US 17 37431233 37431233 single base substitution G A missense_variant P275S 823C>T THCA-US 17 37431233 37431233 single base substitution G A upstream_gene_variant UCEC-US 17 37427059 37427059 single base substitution G A missense_variant T261I 782C>T UCEC-US 17 37427059 37427059 single base substitution G A missense_variant T293I 878C>T UCEC-US 17 37427059 37427059 single base substitution G A missense_variant T295I 884C>T UCEC-US 17 37427059 37427059 single base substitution G A missense_variant T2I 5C>T UCEC-US 17 37431266 37431266 single base substitution C A missense_variant D230Y 688G>T UCEC-US 17 37431266 37431266 single base substitution C A missense_variant D262Y 784G>T UCEC-US 17 37431266 37431266 single base substitution C A missense_variant D264Y 790G>T UCEC-US 17 37431266 37431266 single base substitution C A upstream_gene_variant UCEC-US 17 37431346 37431346 single base substitution G A missense_variant T203I 608C>T UCEC-US 17 37431346 37431346 single base substitution G A missense_variant T235I 704C>T UCEC-US 17 37431346 37431346 single base substitution G A missense_variant T237I 710C>T UCEC-US 17 37431346 37431346 single base substitution G A upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-23-1023-01 COSM69434 c.933+1G>A p.? Unknown 17:39268826-39268826 - TCGA-24-2289-01 COSM117739 c.1112C>A p.S371Y Substitution - Missense 17:39264266-39264266 - TCGA-D5-6930-01 COSM5548198 c.697-3delT p.? Unknown 17:39275103-39275103 - T3024 COSM4683890 c.1141C>T p.L381F Substitution - Missense 17:39264237-39264237 - T2 COSM5618038 c.1283G>A p.R428H Substitution - Missense 17:39261488-39261488 - TCGA-D3-A5GO-06 COSM3516765 c.1030C>T p.R344C Substitution - Missense 17:39264348-39264348 - CSCC-7-T COSM4462250 c.1239C>T p.F413F Substitution - coding silent 17:39261532-39261532 - TCGA-FS-A4FC-06 COSM3516764 c.1256C>T p.P419L Substitution - Missense 17:39261515-39261515 - TCGA-AZ-4615-01 COSM3421495 c.1230C>T p.H410H Substitution - coding silent 17:39261541-39261541 - SNU-C2B COSM2837745 c.617C>T p.T206M Substitution - Missense 17:39282733-39282733 - D5 COSM5007606 c.103C>T p.R35W Substitution - Missense 17:39343181-39343181 - TCGA-D9-A1JX-06 COSM3516765 c.1030C>T p.R344C Substitution - Missense 17:39264348-39264348 - LAU63 COSM232323 c.821G>A p.R274Q Substitution - Missense 17:39274976-39274976 - HCC20T COSM1610154 c.232G>T p.E78* Substitution - Nonsense 17:39301003-39301003 - PD4935a COSM161007 c.168T>C p.N56N Substitution - coding silent 17:39301067-39301067 - T144 COSM307430 c.43-1G>A p.? Unknown 17:39343242-39343242 - TCGA-AX-A05Z-01 COSM978583 c.784G>T p.D262Y Substitution - Missense 17:39275013-39275013 - TCGA-66-2795-01 COSM705350 c.913G>T p.D305Y Substitution - Missense 17:39268847-39268847 - RKO COSM4648019 c.1025G>A p.G342E Substitution - Missense 17:39264353-39264353 - TCGA-BR-6452-01 COSM4065950 c.1065G>A p.Q355Q Substitution - coding silent 17:39264313-39264313 - TCGA-IR-A3LL-01 COSM4849728 c.976C>T p.R326* Substitution - Nonsense 17:39265411-39265411 - TCGA-DR-A0ZM-01 COSM460348 c.72C>G p.I24M Substitution - Missense 17:39343212-39343212 - TCGA-CG-5721-01 COSM4065949 c.1152A>G p.I384M Substitution - Missense 17:39264226-39264226 - SJDOSTEOS009 COSM5760068 c.1181G>A p.R394Q Substitution - Missense 17:39264197-39264197 - TCGA-BR-4256-01 COSM4065953 c.270G>A p.G90G Substitution - coding silent 17:39299049-39299049 - CSCC-31-T COSM4561498 c.887G>A p.R296K Substitution - Missense 17:39270797-39270797 - S00830 COSM317352 c.620A>G p.Q207R Substitution - Missense 17:39282730-39282730 - TCGA-BR-6452-01 COSM4065952 c.287T>A p.L96* Substitution - Nonsense 17:39299032-39299032 - BRC47 COSM5028279 c.280C>T p.R94* Substitution - Nonsense 17:39299039-39299039 - S02350 COSM5694687 c.696+1G>A p.? Unknown 17:39281388-39281388 - CRC-03T COSM5451435 c.1034A>G p.H345R Substitution - Missense 17:39264344-39264344 - S00830 COSM317352 c.620A>G p.Q207R Substitution - Missense 17:39282730-39282730 - 8049749 COSM3387837 c.435C>G p.L145L Substitution - coding silent 17:39285537-39285537 - TCGA-AA-3663-01 COSM1382812 c.1016C>T p.T339I Substitution - Missense 17:39264362-39264362 - 61 COSM5740962 c.1070A>G p.E357G Substitution - Missense 17:39264308-39264308 - RK308_C01 COSM3742212 c.621+2T>C p.? Unknown 17:39282727-39282727 - TCGA-BR-8680-01 COSM4065951 c.323C>A p.A108E Substitution - Missense 17:39298996-39298996 - TCGA-AD-6889-01 COSM1382809 c.1259delC p.P420fs*3 Deletion - Frameshift 17:39261512-39261512 - CHC322T COSM3766078 c.104+1G>T p.? Unknown 17:39343179-39343179 - SNU-C2B COSM2837752 c.378G>A p.G126G Substitution - coding silent 17:39297147-39297147 - TCGA-EE-A181-06 COSM3516766 c.295C>T p.R99C Substitution - Missense 17:39299024-39299024 - PD4006a COSM219355 c.1223A>G p.K408R Substitution - Missense 17:39261548-39261548 - TCGA-G2-A2EC-01 COSM1302732 c.808C>G p.Q270E Substitution - Missense 17:39274989-39274989 - SC_9081 COSM5548198 c.697-3delT p.? Unknown 17:39275103-39275103 - TCGA-D5-6924-01 COSM1382813 c.629A>G p.D210G Substitution - Missense 17:39281456-39281456 - TCGA-DD-A4NJ-01 COSM4920983 c.934-1G>T p.? Unknown 17:39265454-39265454 - 3006_T COSM3958304 c.423C>G p.F141L Substitution - Missense 17:39285549-39285549 - PD4006a COSM219355 c.1223A>G p.K408R Substitution - Missense 17:39261548-39261548 - TCGA-EA-A3HR-01 COSM4843274 c.15G>A p.V5V Substitution - coding silent 17:39401388-39401388 - WA26 COSM237387 c.1053C>T p.C351C Substitution - coding silent 17:39264325-39264325 - TCGA-43-6143-01 COSM705349 c.544G>A p.V182I Substitution - Missense 17:39282806-39282806 - TCGA-AA-A00K-01 COSM298449 c.1147C>T p.R383W Substitution - Missense 17:39264231-39264231 - 2984_T COSM3958305 c.330-7T>G p.? Unknown 17:39297202-39297202 - TCGA-B5-A11E-01 COSM978584 c.704C>T p.T235I Substitution - Missense 17:39275093-39275093 - MDS-11 COSM211447 c.1089C>G p.N363K Substitution - Missense 17:39264289-39264289 - CHEWS021 COSM4579638 c.844A>G p.R282G Substitution - Missense 17:39270840-39270840 - TCGA-AP-A059-01 COSM978582 c.878C>T p.T293I Substitution - Missense 17:39270806-39270806 - TCGA-ET-A3DP-01 COSM3370701 c.817C>T p.P273S Substitution - Missense 17:39274980-39274980 - PT33 COSM5909585 c.697-4T>G p.? Unknown 17:39275104-39275104 - TCGA-A6-6653-01 COSM1382811 c.1096C>T p.L366L Substitution - coding silent 17:39264282-39264282 - 503LT COSM4386578 c.706G>A p.D236N Substitution - Missense 17:39275091-39275091 - ESO-683 COSM978584 c.704C>T p.T235I Substitution - Missense 17:39275093-39275093 - PD4006a COSM219355 c.1223A>G p.K408R Substitution - Missense 17:39261548-39261548 - TCGA-FD-A3SL-01 COSM3795553 c.888+2T>A p.? Unknown 17:39270794-39270794 - YUPAT COSM1710185 c.304C>T p.L102F Substitution - Missense 17:39299015-39299015 - TCGA-66-2757-01 COSM705351 c.1053C>A p.C351* Substitution - Nonsense 17:39264325-39264325 - HT115 COSM2837758 c.110T>G p.F37C Substitution - Missense 17:39303634-39303634 - 587376 COSM1206778 c.249G>T p.E83D Substitution - Missense 17:39299070-39299070 - PT38 COSM5923205 c.827G>A p.R276K Substitution - Missense 17:39274970-39274970 - TCGA-AH-6897-01 COSM3421495 c.1230C>T p.H410H Substitution - coding silent 17:39261541-39261541 - TCGA-06-2561-01 COSM3402822 c.753C>A p.S251S Substitution - coding silent 17:39275044-39275044 - 450 COSM4435637 c.660C>G p.C220W Substitution - Missense 17:39281425-39281425 - HCC20 COSM1610154 c.232G>T p.E78* Substitution - Nonsense 17:39301003-39301003 - 503T COSM4386578 c.706G>A p.D236N Substitution - Missense 17:39275091-39275091 - TCGA-63-5128-01 COSM705348 c.321T>A p.N107K Substitution - Missense 17:39298998-39298998 - CHOL15 COSM1743337 c.1160A>C p.Y387S Substitution - Missense 17:39264218-39264218 - TCGA-C4-A0EZ-01 COSM417565 c.232G>C p.E78Q Substitution - Missense 17:39301003-39301003 - TCGA-EK-A2RK-01 COSM4829109 c.50C>G p.S17* Substitution - Nonsense 17:39343234-39343234 - PD10010a COSM5801221 c.96_98delCCT p.L34delL Deletion - In frame 17:39343186-39343188 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.462927;Hs.462946 17q12 609086

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Synonymous p.N56N c.168T>C 17 37457320 BRCA AT - IntronicDeletion . c.398+12_398+13delAT 17 37453367 STAD A T Missense p.N107K c.321T>A 17 37455251 LUSC C A Missense p.D305Y c.913G>T 17 37425100 LUSC C A SpliceAcceptorSNV . c.160-1G>T 17 37457329 LUAD C G Missense p.E78Q c.232G>C 17 37457256 BLCA C T 3-UTRSNV . c.1308+322G>A 17 37417394 HC C T Missense p.E172K c.514G>A 17 37439089 CM C T Missense p.V182I c.544G>A 17 37439059 LUSC C T SpliceDonorSNV . c.933+1G>A 17 37425079 OV C T Synonymous p.G90G c.270G>A 17 37455302 STAD G A Missense p.A263V c.788C>T 17 37431262 BRCA G A Missense p.L138F c.412C>T 17 37441813 CM G A Missense p.P273S c.817C>T 17 37431233 THCA G A Missense p.R344C c.1030C>T 17 37420601 CM G A Missense p.R383W c.1147C>T 17 37420484 COREAD G A Missense p.R99C c.295C>T 17 37455277 CM G A Missense p.T235I c.704C>T 17 37431346 ESCA G A Nonsense p.R326* c.976C>T 17 37421664 HNSC G A Nonsense p.R94* c.280C>T 17 37455292 BRCA G C Missense p.Q270E c.808C>G 17 37431242 BLCA G T Missense p.H403N c.1207C>A 17 37417817 STAD G T Missense p.S371Y c.1112C>A 17 37420519 OV G T Nonsense p.C351* c.1053C>A 17 37420578 LUSC G T Synonymous p.L386L c.1158C>A 17 37420473 CM G T Synonymous p.S251S c.753C>A 17 37431297 GBM T A Synonymous p.A218A c.654A>T 17 37437684 LUAD T C Missense p.Q207R c.620A>G 17 37438983 SCLC