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 13 27643445 27643449 + Frame_Shift_Del DEL ATGTA ATGTA - TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 g.chr13:27643445_27643449delATGTA c.1084_1088delTACAT c.(1084-1089)tacatcfs p.YI362fs BLCA 13 27645266 27645266 + Missense_Mutation SNP T T C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 g.chr13:27645266T>C c.953A>G c.(952-954)tAt>tGt p.Y318C BLCA 13 27669915 27669915 + Silent SNP T T C TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 g.chr13:27669915T>C c.396A>G c.(394-396)ctA>ctG p.L132L BLCA 13 27680082 27680082 + Splice_Site SNP C C G TCGA-UY-A78K-01A-11D-A339-08 TCGA-UY-A78K-10A-01D-A339-08 g.chr13:27680082C>G c.e3-1 BRCA 13 27645275 27645275 + Missense_Mutation SNP C C T TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 g.chr13:27645275C>T c.944G>A c.(943-945)cGa>cAa p.R315Q BRCA 13 27664021 27664021 + Splice_Site SNP G G A TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 g.chr13:27664021G>A c.733C>T c.(733-735)Cgg>Tgg p.R245W BRCA 13 27664021 27664021 + Splice_Site SNP G G A TCGA-B6-A0RV-01A-11D-A099-09 TCGA-B6-A0RV-10A-01D-A099-09 g.chr13:27664021G>A c.733C>T c.(733-735)Cgg>Tgg p.R245W BRCA 13 27664065 27664065 + Missense_Mutation SNP T T C TCGA-E9-A3X8-01A-31D-A22X-09 TCGA-E9-A3X8-10B-01D-A22X-09 g.chr13:27664065T>C c.689A>G c.(688-690)aAg>aGg p.K230R BRCA 13 27669743 27669743 + Missense_Mutation SNP C C T TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr13:27669743C>T c.568G>A c.(568-570)Gaa>Aaa p.E190K BRCA 13 27679970 27679970 + Missense_Mutation SNP G G T TCGA-BH-A0B9-01A-11W-A071-09 TCGA-BH-A0B9-10A-01W-A071-09 g.chr13:27679970G>T c.241C>A c.(241-243)Ctt>Att p.L81I CESC 13 27649460 27649460 + Missense_Mutation SNP T T A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr13:27649460T>A c.800A>T c.(799-801)cAa>cTa p.Q267L CHOL 13 27669906 27669906 + Silent SNP T T G TCGA-W5-AA39-01A-11D-A417-09 TCGA-W5-AA39-10A-01D-A41A-09 g.chr13:27669906T>G c.405A>C c.(403-405)acA>acC p.T135T COAD 13 27645234 27645234 + Missense_Mutation SNP A A C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr13:27645234A>C c.985T>G c.(985-987)Ttg>Gtg p.L329V COAD 13 27649510 27649510 + Frame_Shift_Del DEL T T - TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr13:27649510delT c.750delA c.(748-750)aaafs p.K250fs COAD 13 27680027 27680027 + Missense_Mutation SNP G G C TCGA-A6-6782-01A-11D-1835-10 TCGA-A6-6782-10A-01D-1835-10 g.chr13:27680027G>C c.184C>G c.(184-186)Cca>Gca p.P62A COAD 13 27680066 27680066 + Missense_Mutation SNP A A T TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr13:27680066A>T c.145T>A c.(145-147)Tac>Aac p.Y49N COAD 13 27690719 27690720 + Frame_Shift_Ins INS - - GG TCGA-DM-A28H-01A-11D-A16V-10 TCGA-DM-A28H-10A-01D-A16V-10 g.chr13:27690719_27690720insGG c.62_63insCC c.(61-63)tcgfs p.S21fs COADREAD 13 27645234 27645234 + Missense_Mutation SNP A A C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr13:27645234A>C c.985T>G c.(985-987)Ttg>Gtg p.L329V COADREAD 13 27649510 27649510 + Frame_Shift_Del DEL T T - TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr13:27649510delT c.750delA c.(748-750)aaafs p.K250fs COADREAD 13 27680027 27680027 + Missense_Mutation SNP G G C TCGA-A6-6782-01A-11D-1835-10 TCGA-A6-6782-10A-01D-1835-10 g.chr13:27680027G>C c.184C>G c.(184-186)Cca>Gca p.P62A COADREAD 13 27680066 27680066 + Missense_Mutation SNP A A T TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr13:27680066A>T c.145T>A c.(145-147)Tac>Aac p.Y49N COADREAD 13 27690719 27690720 + Frame_Shift_Ins INS - - GG TCGA-DM-A28H-01A-11D-A16V-10 TCGA-DM-A28H-10A-01D-A16V-10 g.chr13:27690719_27690720insGG c.62_63insCC c.(61-63)tcgfs p.S21fs COADREAD 13 27690731 27690731 + Silent SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr13:27690731G>A c.51C>T c.(49-51)ggC>ggT p.G17G ESCA 13 27645219 27645219 + Missense_Mutation SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 g.chr13:27645219C>T c.1000G>A c.(1000-1002)Gac>Aac p.D334N GBM 13 27664021 27664021 + Splice_Site SNP G G A TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 g.chr13:27664021G>A c.733C>T c.(733-735)Cgg>Tgg p.R245W GBMLGG 13 27649407 27649407 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr13:27649407G>A c.853C>T c.(853-855)Cgt>Tgt p.R285C GBMLGG 13 27664021 27664021 + Splice_Site SNP G G A TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 g.chr13:27664021G>A c.733C>T c.(733-735)Cgg>Tgg p.R245W GBMLGG 13 27664086 27664086 + Missense_Mutation SNP T T C TCGA-E1-A7YK-01A-11D-A34A-08 TCGA-E1-A7YK-10A-01D-A34A-08 g.chr13:27664086T>C c.668A>G c.(667-669)gAa>gGa p.E223G GBMLGG 13 27680004 27680004 + Silent SNP C C T TCGA-HW-8321-01A-11D-2395-08 TCGA-HW-8321-10A-01D-2396-08 g.chr13:27680004C>T c.207G>A c.(205-207)gcG>gcA p.A69A HNSC 13 27649390 27649390 + Silent SNP T T C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 g.chr13:27649390T>C c.870A>G c.(868-870)tcA>tcG p.S290S HNSC 13 27669743 27669743 + Missense_Mutation SNP C C T TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 g.chr13:27669743C>T c.568G>A c.(568-570)Gaa>Aaa p.E190K HNSC 13 27669839 27669839 + Missense_Mutation SNP T T C TCGA-P3-A6SX-01A-11D-A34J-08 TCGA-P3-A6SX-10A-01D-A34M-08 g.chr13:27669839T>C c.472A>G c.(472-474)Att>Gtt p.I158V KIPAN 13 27664060 27664060 + Missense_Mutation SNP A A T TCGA-A4-A48D-01A-11D-A25F-10 TCGA-A4-A48D-10A-01D-A25F-10 g.chr13:27664060A>T c.694T>A c.(694-696)Tac>Aac p.Y232N KIPAN 13 27669947 27669947 + Missense_Mutation SNP G G T TCGA-5P-A9K2-01A-11D-A42J-10 TCGA-5P-A9K2-10A-01D-A42M-10 g.chr13:27669947G>T c.364C>A c.(364-366)Caa>Aaa p.Q122K KIPAN 13 27680064 27680064 + Nonsense_Mutation SNP G G T TCGA-B8-4621-01A-01D-1501-10 TCGA-B8-4621-10A-01D-1501-10 g.chr13:27680064G>T c.147C>A c.(145-147)taC>taA p.Y49* KIRC 13 27680064 27680064 + Nonsense_Mutation SNP G G T TCGA-B8-4621-01A-01D-1501-10 TCGA-B8-4621-10A-01D-1501-10 g.chr13:27680064G>T c.147C>A c.(145-147)taC>taA p.Y49* KIRP 13 27664060 27664060 + Missense_Mutation SNP A A T TCGA-A4-A48D-01A-11D-A25F-10 TCGA-A4-A48D-10A-01D-A25F-10 g.chr13:27664060A>T c.694T>A c.(694-696)Tac>Aac p.Y232N KIRP 13 27669947 27669947 + Missense_Mutation SNP G G T TCGA-5P-A9K2-01A-11D-A42J-10 TCGA-5P-A9K2-10A-01D-A42M-10 g.chr13:27669947G>T c.364C>A c.(364-366)Caa>Aaa p.Q122K LGG 13 27649407 27649407 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr13:27649407G>A c.853C>T c.(853-855)Cgt>Tgt p.R285C LGG 13 27664086 27664086 + Missense_Mutation SNP T T C TCGA-E1-A7YK-01A-11D-A34A-08 TCGA-E1-A7YK-10A-01D-A34A-08 g.chr13:27664086T>C c.668A>G c.(667-669)gAa>gGa p.E223G LGG 13 27680004 27680004 + Silent SNP C C T TCGA-HW-8321-01A-11D-2395-08 TCGA-HW-8321-10A-01D-2396-08 g.chr13:27680004C>T c.207G>A c.(205-207)gcG>gcA p.A69A LIHC 13 27664255 27664255 + Missense_Mutation SNP T T C TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr13:27664255T>C c.614A>G c.(613-615)gAc>gGc p.D205G LIHC 13 27679961 27679961 + Silent SNP A A G TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr13:27679961A>G c.250T>C c.(250-252)Tta>Cta p.L84L LUAD 13 27690659 27690659 + Missense_Mutation SNP T T A TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 g.chr13:27690659T>A c.123A>T c.(121-123)ttA>ttT p.L41F PAAD 13 27643438 27643438 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr13:27643438G>T c.1095C>A c.(1093-1095)ttC>ttA p.F365L PAAD 13 27645271 27645271 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr13:27645271G>A c.948C>T c.(946-948)ggC>ggT p.G316G PRAD 13 27649444 27649444 + Silent SNP T T A TCGA-CH-5752-01A-11D-1576-08 TCGA-CH-5752-10A-01D-1576-08 g.chr13:27649444T>A c.816A>T c.(814-816)acA>acT p.T272T PRAD 13 27664046 27664046 + Missense_Mutation SNP A A C TCGA-KK-A7AZ-01A-12D-A32B-08 TCGA-KK-A7AZ-11A-11D-A329-08 g.chr13:27664046A>C c.708T>G c.(706-708)tgT>tgG p.C236W PRAD 13 27669938 27669938 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr13:27669938C>T c.373G>A c.(373-375)Gcc>Acc p.A125T PRAD 13 27745742 27745742 + Missense_Mutation SNP G G A TCGA-VN-A88R-01A-11D-A364-08 TCGA-VN-A88R-10B-01D-A362-08 g.chr13:27745742G>A c.35C>T c.(34-36)tCc>tTc p.S12F READ 13 27690731 27690731 + Silent SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr13:27690731G>A c.51C>T c.(49-51)ggC>ggT p.G17G

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 13 27643458 27643458 single base substitution C T missense_variant E359K 1075G>A BLCA-CN 13 27664243 27664243 single base substitution T C missense_variant N209S 626A>G BLCA-US 13 27645266 27645266 single base substitution T C missense_variant Y318C 953A>G BOCA-FR 13 27705048 27705048 single base substitution C T intron_variant BOCA-FR 13 27710798 27710798 single base substitution C T intron_variant BRCA-EU 13 27637265 27637265 single base substitution C G downstream_gene_variant BRCA-EU 13 27637733 27637733 single base substitution G A downstream_gene_variant BRCA-EU 13 27637929 27637929 single base substitution G A downstream_gene_variant BRCA-EU 13 27640168 27640168 single base substitution A G downstream_gene_variant BRCA-EU 13 27644058 27644058 single base substitution T A intron_variant BRCA-EU 13 27644654 27644654 single base substitution A T intron_variant BRCA-EU 13 27646103 27646103 single base substitution C G intron_variant BRCA-EU 13 27648277 27648277 single base substitution C T intron_variant BRCA-EU 13 27648336 27648336 single base substitution G C intron_variant BRCA-EU 13 27648901 27648901 single base substitution A G intron_variant BRCA-EU 13 27649210 27649210 single base substitution C T intron_variant BRCA-EU 13 27649732 27649732 single base substitution C G intron_variant BRCA-EU 13 27651454 27651454 single base substitution G C intron_variant BRCA-EU 13 27651530 27651531 deletion of <=200bp AG - intron_variant BRCA-EU 13 27653861 27653861 single base substitution C T intron_variant BRCA-EU 13 27654540 27654540 single base substitution C G intron_variant BRCA-EU 13 27655366 27655366 single base substitution G A intron_variant BRCA-EU 13 27656802 27656802 single base substitution G C intron_variant BRCA-EU 13 27661123 27661123 single base substitution C T intron_variant BRCA-EU 13 27661154 27661154 single base substitution C G intron_variant BRCA-EU 13 27662053 27662053 single base substitution A T intron_variant BRCA-EU 13 27663166 27663166 single base substitution C G intron_variant BRCA-EU 13 27664116 27664116 single base substitution C G intron_variant BRCA-EU 13 27664235 27664235 single base substitution T C missense_variant I212V 634A>G BRCA-EU 13 27664325 27664325 single base substitution T C intron_variant BRCA-EU 13 27665756 27665756 single base substitution G A intron_variant BRCA-EU 13 27667127 27667127 single base substitution A C intron_variant BRCA-EU 13 27671318 27671318 single base substitution A T intron_variant BRCA-EU 13 27671544 27671544 single base substitution G A intron_variant BRCA-EU 13 27673023 27673023 single base substitution C G intron_variant BRCA-EU 13 27673497 27673497 deletion of <=200bp T - intron_variant BRCA-EU 13 27674275 27674275 single base substitution C A intron_variant BRCA-EU 13 27675630 27675630 single base substitution C T intron_variant BRCA-EU 13 27675792 27675792 insertion of <=200bp - A intron_variant BRCA-EU 13 27675862 27675862 single base substitution C G intron_variant BRCA-EU 13 27676208 27676208 single base substitution G A intron_variant BRCA-EU 13 27676223 27676223 single base substitution G C intron_variant BRCA-EU 13 27676997 27676997 single base substitution G C intron_variant BRCA-EU 13 27678380 27678380 single base substitution C T intron_variant BRCA-EU 13 27678975 27678975 single base substitution G A intron_variant BRCA-EU 13 27679504 27679504 single base substitution A G intron_variant BRCA-EU 13 27679545 27679545 deletion of <=200bp A - intron_variant BRCA-EU 13 27679545 27679545 insertion of <=200bp - A intron_variant BRCA-EU 13 27681197 27681197 single base substitution C T intron_variant BRCA-EU 13 27681717 27681721 deletion of <=200bp GTGTT - intron_variant BRCA-EU 13 27682348 27682348 single base substitution T G intron_variant BRCA-EU 13 27682786 27682786 single base substitution A G intron_variant BRCA-EU 13 27682859 27682859 single base substitution C A intron_variant BRCA-EU 13 27683108 27683108 insertion of <=200bp - TA intron_variant BRCA-EU 13 27684752 27684752 single base substitution G A intron_variant BRCA-EU 13 27685899 27685899 single base substitution T C intron_variant BRCA-EU 13 27687129 27687129 single base substitution G C intron_variant BRCA-EU 13 27688352 27688352 deletion of <=200bp A - intron_variant BRCA-EU 13 27688908 27688908 single base substitution A T intron_variant BRCA-EU 13 27688909 27688909 single base substitution A T intron_variant BRCA-EU 13 27690398 27690398 single base substitution G A intron_variant BRCA-EU 13 27691061 27691061 single base substitution C G intron_variant BRCA-EU 13 27691189 27691189 deletion of <=200bp A - intron_variant BRCA-EU 13 27691290 27691290 single base substitution A G intron_variant BRCA-EU 13 27691681 27691681 single base substitution C T intron_variant BRCA-EU 13 27692768 27692768 single base substitution C G intron_variant BRCA-EU 13 27693552 27693552 single base substitution G C intron_variant BRCA-EU 13 27693918 27693918 single base substitution G T intron_variant BRCA-EU 13 27695305 27695305 single base substitution C A intron_variant BRCA-EU 13 27695998 27695998 single base substitution A G intron_variant BRCA-EU 13 27696562 27696562 single base substitution T G intron_variant BRCA-EU 13 27698702 27698702 single base substitution T C intron_variant BRCA-EU 13 27699877 27699877 single base substitution T C intron_variant BRCA-EU 13 27701810 27701810 single base substitution A G intron_variant BRCA-EU 13 27702647 27702647 single base substitution G A intron_variant BRCA-EU 13 27703245 27703245 single base substitution A G intron_variant BRCA-EU 13 27703872 27703872 single base substitution G A intron_variant BRCA-EU 13 27704413 27704413 deletion of <=200bp T - intron_variant BRCA-EU 13 27706380 27706380 single base substitution C G intron_variant BRCA-EU 13 27707896 27707896 single base substitution G C intron_variant BRCA-EU 13 27708163 27708163 single base substitution C A intron_variant BRCA-EU 13 27708751 27708751 single base substitution C T intron_variant BRCA-EU 13 27712016 27712016 single base substitution G A intron_variant BRCA-EU 13 27712803 27712803 single base substitution T C intron_variant BRCA-EU 13 27713692 27713692 single base substitution G A intron_variant BRCA-EU 13 27714549 27714549 single base substitution G A intron_variant BRCA-EU 13 27714826 27714826 single base substitution A T intron_variant BRCA-EU 13 27715625 27715625 single base substitution A G intron_variant BRCA-EU 13 27716086 27716086 deletion of <=200bp A - intron_variant BRCA-EU 13 27716123 27716123 single base substitution A T intron_variant BRCA-EU 13 27718674 27718674 single base substitution G C intron_variant BRCA-EU 13 27720315 27720315 single base substitution G T intron_variant BRCA-EU 13 27721823 27721823 single base substitution C T intron_variant BRCA-EU 13 27722193 27722193 single base substitution G C intron_variant BRCA-EU 13 27724796 27724796 single base substitution A T intron_variant BRCA-EU 13 27725698 27725698 single base substitution C T intron_variant BRCA-EU 13 27728782 27728782 deletion of <=200bp A - intron_variant BRCA-EU 13 27730111 27730111 deletion of <=200bp A - intron_variant BRCA-EU 13 27730946 27730946 single base substitution A T intron_variant BRCA-EU 13 27731473 27731473 single base substitution G A intron_variant BRCA-EU 13 27731515 27731515 single base substitution G A intron_variant BRCA-EU 13 27731665 27731665 deletion of <=200bp T - intron_variant BRCA-EU 13 27733146 27733146 single base substitution C A intron_variant BRCA-EU 13 27734097 27734097 single base substitution G C intron_variant BRCA-EU 13 27734236 27734236 single base substitution G A intron_variant BRCA-EU 13 27734932 27734933 deletion of <=200bp TC - intron_variant BRCA-EU 13 27735527 27735527 single base substitution T G intron_variant BRCA-EU 13 27736917 27736917 single base substitution G C intron_variant BRCA-EU 13 27737552 27737552 single base substitution C G intron_variant BRCA-EU 13 27737659 27737682 deletion of <=200bp AAGAAAAACATCTCATTGCATGCA - intron_variant BRCA-EU 13 27741556 27741556 single base substitution G A intron_variant BRCA-EU 13 27741679 27741679 deletion of <=200bp T - intron_variant BRCA-EU 13 27743692 27743692 single base substitution G C intron_variant BRCA-EU 13 27744088 27744088 single base substitution G A intron_variant BRCA-EU 13 27744161 27744161 single base substitution T G intron_variant BRCA-EU 13 27744200 27744200 single base substitution C T intron_variant BRCA-EU 13 27747082 27747082 single base substitution G A upstream_gene_variant BRCA-EU 13 27747232 27747232 deletion of <=200bp G - upstream_gene_variant BRCA-EU 13 27747435 27747435 single base substitution G C upstream_gene_variant BRCA-EU 13 27747582 27747582 single base substitution C T upstream_gene_variant BRCA-EU 13 27747645 27747645 single base substitution G A upstream_gene_variant BRCA-EU 13 27749423 27749423 single base substitution G A upstream_gene_variant BRCA-EU 13 27749657 27749657 single base substitution C T upstream_gene_variant BRCA-FR 13 27642055 27642055 single base substitution T C 3_prime_UTR_variant BRCA-FR 13 27646103 27646103 single base substitution C G intron_variant BRCA-FR 13 27653861 27653861 single base substitution C T intron_variant BRCA-FR 13 27662053 27662053 single base substitution A T intron_variant BRCA-FR 13 27667044 27667044 single base substitution G A intron_variant BRCA-FR 13 27692768 27692768 single base substitution C G intron_variant BRCA-FR 13 27706596 27706596 single base substitution A G intron_variant BRCA-FR 13 27746166 27746166 single base substitution C G upstream_gene_variant BRCA-UK 13 27651621 27651621 single base substitution C G intron_variant BRCA-UK 13 27664235 27664235 single base substitution T C missense_variant I212V 634A>G BRCA-UK 13 27673023 27673023 single base substitution C G intron_variant BRCA-UK 13 27676208 27676208 single base substitution G A intron_variant BRCA-UK 13 27691061 27691061 single base substitution C G intron_variant BRCA-UK 13 27734097 27734097 single base substitution G C intron_variant BRCA-US 13 27645275 27645275 single base substitution C T missense_variant R315Q 944G>A BRCA-US 13 27664021 27664021 single base substitution G A missense_variant R245W 733C>T BRCA-US 13 27664065 27664065 single base substitution T C missense_variant K230R 689A>G BRCA-US 13 27669743 27669743 single base substitution C T missense_variant E190K 568G>A BRCA-US 13 27679970 27679970 single base substitution G T missense_variant L81I 241C>A BTCA-JP 13 27680091 27680091 deletion of <=200bp A - intron_variant CESC-US 13 27649460 27649460 single base substitution T A missense_variant Q267L 800A>T CLLE-ES 13 27656763 27656763 single base substitution C G intron_variant CLLE-ES 13 27673241 27673241 single base substitution T A intron_variant CLLE-ES 13 27700656 27700656 single base substitution C T intron_variant COAD-US 13 27649510 27649510 deletion of <=200bp T - frameshift_variant K250 COAD-US 13 27680027 27680027 single base substitution G C missense_variant P62A 184C>G COAD-US 13 27680066 27680066 single base substitution A T missense_variant Y49N 145T>A COAD-US 13 27690719 27690719 insertion of <=200bp - GG frameshift_variant S21S? COCA-CN 13 27637123 27637123 single base substitution G A downstream_gene_variant COCA-CN 13 27676155 27676155 single base substitution T C intron_variant COCA-CN 13 27679981 27679981 single base substitution T C missense_variant K77R 230A>G COCA-CN 13 27690504 27690504 single base substitution G A intron_variant EOPC-DE 13 27653494 27653494 single base substitution T C intron_variant EOPC-DE 13 27661347 27661347 single base substitution A T intron_variant EOPC-DE 13 27664210 27664210 single base substitution T G intron_variant EOPC-DE 13 27670518 27670518 single base substitution T C intron_variant EOPC-DE 13 27727190 27727190 single base substitution C T intron_variant ESAD-UK 13 27635808 27635808 single base substitution A G downstream_gene_variant ESAD-UK 13 27637309 27637309 single base substitution G A downstream_gene_variant ESAD-UK 13 27637702 27637702 single base substitution A C downstream_gene_variant ESAD-UK 13 27638277 27638277 single base substitution G A downstream_gene_variant ESAD-UK 13 27638934 27638934 single base substitution C T downstream_gene_variant ESAD-UK 13 27640986 27640986 single base substitution G A 3_prime_UTR_variant ESAD-UK 13 27642600 27642600 single base substitution G C 3_prime_UTR_variant ESAD-UK 13 27643025 27643025 single base substitution G A 3_prime_UTR_variant ESAD-UK 13 27646252 27646252 single base substitution T A intron_variant ESAD-UK 13 27647566 27647566 single base substitution G C intron_variant ESAD-UK 13 27647613 27647613 single base substitution A C intron_variant ESAD-UK 13 27648556 27648556 single base substitution T A intron_variant ESAD-UK 13 27651828 27651828 deletion of <=200bp A - intron_variant ESAD-UK 13 27652368 27652368 single base substitution T A intron_variant ESAD-UK 13 27658086 27658086 single base substitution C G intron_variant ESAD-UK 13 27659707 27659707 single base substitution A G intron_variant ESAD-UK 13 27661492 27661492 single base substitution G A intron_variant ESAD-UK 13 27663540 27663540 single base substitution T C intron_variant ESAD-UK 13 27666975 27666975 single base substitution T C intron_variant ESAD-UK 13 27670419 27670419 single base substitution G A intron_variant ESAD-UK 13 27671256 27671256 single base substitution T C intron_variant ESAD-UK 13 27671538 27671538 single base substitution G A intron_variant ESAD-UK 13 27674380 27674380 single base substitution C T intron_variant ESAD-UK 13 27675048 27675048 single base substitution G C intron_variant ESAD-UK 13 27675085 27675085 single base substitution G A intron_variant ESAD-UK 13 27676713 27676713 single base substitution C A intron_variant ESAD-UK 13 27680318 27680318 single base substitution A G intron_variant ESAD-UK 13 27680554 27680554 single base substitution G A intron_variant ESAD-UK 13 27680612 27680612 single base substitution C T intron_variant ESAD-UK 13 27680849 27680849 single base substitution T A intron_variant ESAD-UK 13 27683108 27683108 insertion of <=200bp - TA intron_variant ESAD-UK 13 27690395 27690395 single base substitution G A intron_variant ESAD-UK 13 27691001 27691001 single base substitution C G intron_variant ESAD-UK 13 27694686 27694686 single base substitution G C intron_variant ESAD-UK 13 27696279 27696279 single base substitution C T intron_variant ESAD-UK 13 27697013 27697013 single base substitution G A intron_variant ESAD-UK 13 27697723 27697723 single base substitution C T intron_variant ESAD-UK 13 27700286 27700286 single base substitution T C intron_variant ESAD-UK 13 27703079 27703079 single base substitution C G intron_variant ESAD-UK 13 27704044 27704044 single base substitution A G intron_variant ESAD-UK 13 27704294 27704294 single base substitution C T intron_variant ESAD-UK 13 27706062 27706062 insertion of <=200bp - AC intron_variant ESAD-UK 13 27710404 27710404 single base substitution G A intron_variant ESAD-UK 13 27710577 27710577 single base substitution G A intron_variant ESAD-UK 13 27712468 27712468 single base substitution A G intron_variant ESAD-UK 13 27714660 27714660 deletion of <=200bp C - intron_variant ESAD-UK 13 27715477 27715477 single base substitution C T intron_variant ESAD-UK 13 27716276 27716276 single base substitution C T intron_variant ESAD-UK 13 27717090 27717090 single base substitution C T intron_variant ESAD-UK 13 27718755 27718755 single base substitution T C intron_variant ESAD-UK 13 27718896 27718896 single base substitution T C intron_variant ESAD-UK 13 27719295 27719295 single base substitution A G intron_variant ESAD-UK 13 27722594 27722594 single base substitution C T intron_variant ESAD-UK 13 27723681 27723681 single base substitution T G intron_variant ESAD-UK 13 27724930 27724930 single base substitution C T intron_variant ESAD-UK 13 27727798 27727798 single base substitution G C intron_variant ESAD-UK 13 27727945 27727945 single base substitution C T intron_variant ESAD-UK 13 27728181 27728181 single base substitution C G intron_variant ESAD-UK 13 27730571 27730571 single base substitution G A intron_variant ESAD-UK 13 27731671 27731671 single base substitution T A intron_variant ESAD-UK 13 27732453 27732453 single base substitution A C intron_variant ESAD-UK 13 27736450 27736450 single base substitution A T intron_variant ESAD-UK 13 27737924 27737924 single base substitution A G intron_variant ESAD-UK 13 27738570 27738570 single base substitution T A intron_variant ESAD-UK 13 27740058 27740058 insertion of <=200bp - A intron_variant ESAD-UK 13 27741169 27741169 insertion of <=200bp - T intron_variant ESAD-UK 13 27741410 27741410 single base substitution T A intron_variant ESAD-UK 13 27743448 27743448 single base substitution C T intron_variant ESAD-UK 13 27744727 27744727 single base substitution G A intron_variant ESAD-UK 13 27746038 27746038 single base substitution C G upstream_gene_variant ESAD-UK 13 27747449 27747449 single base substitution C T upstream_gene_variant ESAD-UK 13 27747695 27747695 single base substitution C G upstream_gene_variant ESAD-UK 13 27747808 27747808 single base substitution C A upstream_gene_variant ESAD-UK 13 27748412 27748412 single base substitution G T upstream_gene_variant ESAD-UK 13 27750073 27750074 deletion of <=200bp AT - upstream_gene_variant GBM-US 13 27664021 27664021 single base substitution G A missense_variant R245W 733C>T KIRC-US 13 27680064 27680064 single base substitution G T stop_gained Y49* 147C>A KIRP-US 13 27664060 27664060 single base substitution A T missense_variant Y232N 694T>A LAML-KR 13 27643597 27643597 single base substitution C T intron_variant LAML-KR 13 27704611 27704611 single base substitution T A intron_variant LGG-US 13 27680004 27680004 single base substitution C T synonymous_variant A69A 207G>A LICA-FR 13 27658635 27658636 deletion of <=200bp AA - intron_variant LICA-FR 13 27668321 27668321 insertion of <=200bp - AA intron_variant LICA-FR 13 27670110 27670110 single base substitution C T intron_variant LICA-FR 13 27706466 27706467 deletion of <=200bp TA - intron_variant LICA-FR 13 27729970 27729970 single base substitution G T intron_variant LICA-FR 13 27731159 27731159 single base substitution G T intron_variant LICA-FR 13 27740695 27740695 single base substitution G C intron_variant LIHC-US 13 27643523 27643523 single base substitution T C splice_acceptor_variant LINC-JP 13 27644549 27644549 single base substitution T C intron_variant LINC-JP 13 27644654 27644654 single base substitution A T intron_variant LINC-JP 13 27650385 27650385 single base substitution T C intron_variant LINC-JP 13 27652386 27652386 single base substitution A T intron_variant LINC-JP 13 27719065 27719065 single base substitution A G intron_variant LINC-JP 13 27735405 27735405 single base substitution C G intron_variant LINC-JP 13 27738565 27738565 single base substitution G A intron_variant LINC-JP 13 27739759 27739759 single base substitution G A intron_variant LINC-JP 13 27746207 27746207 single base substitution C T upstream_gene_variant LIRI-JP 13 27636099 27636099 single base substitution C A downstream_gene_variant LIRI-JP 13 27636770 27636770 single base substitution T C downstream_gene_variant LIRI-JP 13 27641524 27641524 single base substitution T C 3_prime_UTR_variant LIRI-JP 13 27641567 27641567 single base substitution T C 3_prime_UTR_variant LIRI-JP 13 27641835 27641835 single base substitution T C 3_prime_UTR_variant LIRI-JP 13 27646208 27646208 single base substitution A T intron_variant LIRI-JP 13 27646843 27646855 deletion of <=200bp AGGGATGGGAAAT - intron_variant LIRI-JP 13 27650479 27650479 single base substitution T C intron_variant LIRI-JP 13 27658070 27658070 single base substitution C A intron_variant LIRI-JP 13 27658083 27658083 single base substitution C G intron_variant LIRI-JP 13 27658368 27658368 single base substitution G A intron_variant LIRI-JP 13 27659717 27659717 single base substitution G C intron_variant LIRI-JP 13 27660714 27660714 single base substitution A G intron_variant LIRI-JP 13 27661917 27661917 single base substitution A C intron_variant LIRI-JP 13 27664184 27664184 single base substitution T C intron_variant LIRI-JP 13 27667473 27667473 single base substitution C A intron_variant LIRI-JP 13 27668703 27668703 single base substitution C T intron_variant LIRI-JP 13 27669111 27669111 single base substitution C A intron_variant LIRI-JP 13 27669567 27669571 deletion of <=200bp ACATT - intron_variant LIRI-JP 13 27671018 27671018 single base substitution T C intron_variant LIRI-JP 13 27673774 27673774 single base substitution C T intron_variant LIRI-JP 13 27676508 27676508 single base substitution C A intron_variant LIRI-JP 13 27678606 27678606 single base substitution G A intron_variant LIRI-JP 13 27689329 27689329 single base substitution G A intron_variant LIRI-JP 13 27690187 27690187 single base substitution C T intron_variant LIRI-JP 13 27692159 27692159 single base substitution T C intron_variant LIRI-JP 13 27694436 27694436 single base substitution T C intron_variant LIRI-JP 13 27696825 27696825 single base substitution A C intron_variant LIRI-JP 13 27697325 27697325 single base substitution T C intron_variant LIRI-JP 13 27699147 27699147 single base substitution C G intron_variant LIRI-JP 13 27700286 27700286 single base substitution T C intron_variant LIRI-JP 13 27700688 27700688 single base substitution G A intron_variant LIRI-JP 13 27703502 27703518 deletion of <=200bp CAAAAATAAAAACCATT - intron_variant LIRI-JP 13 27703530 27703530 single base substitution C T intron_variant LIRI-JP 13 27703817 27703817 single base substitution C A intron_variant LIRI-JP 13 27704867 27704867 single base substitution T G intron_variant LIRI-JP 13 27705349 27705349 single base substitution A C intron_variant LIRI-JP 13 27707141 27707141 single base substitution A G intron_variant LIRI-JP 13 27707789 27707789 single base substitution A G intron_variant LIRI-JP 13 27709624 27709624 single base substitution T C intron_variant LIRI-JP 13 27709763 27709763 single base substitution A C intron_variant LIRI-JP 13 27710840 27710840 single base substitution C T intron_variant LIRI-JP 13 27714195 27714195 single base substitution T C intron_variant LIRI-JP 13 27716455 27716455 single base substitution C T intron_variant LIRI-JP 13 27716684 27716684 single base substitution T C intron_variant LIRI-JP 13 27717510 27717510 single base substitution T C intron_variant LIRI-JP 13 27717766 27717766 single base substitution G T intron_variant LIRI-JP 13 27717940 27717940 single base substitution T C intron_variant LIRI-JP 13 27718355 27718355 single base substitution G A intron_variant LIRI-JP 13 27719259 27719259 single base substitution C T intron_variant LIRI-JP 13 27721577 27721577 single base substitution A T intron_variant LIRI-JP 13 27721671 27721671 single base substitution A T intron_variant LIRI-JP 13 27725791 27725791 single base substitution C G intron_variant LIRI-JP 13 27726359 27726359 single base substitution A C intron_variant LIRI-JP 13 27730693 27730693 single base substitution G T intron_variant LIRI-JP 13 27738879 27738879 single base substitution C T intron_variant LIRI-JP 13 27742080 27742080 single base substitution T G intron_variant LIRI-JP 13 27744038 27744038 single base substitution G A intron_variant LIRI-JP 13 27744740 27744740 single base substitution A T intron_variant LIRI-JP 13 27749182 27749182 single base substitution C A upstream_gene_variant LUSC-KR 13 27635509 27635509 single base substitution T A downstream_gene_variant LUSC-KR 13 27635510 27635510 single base substitution C A downstream_gene_variant LUSC-KR 13 27637767 27637767 single base substitution G A downstream_gene_variant LUSC-KR 13 27643677 27643677 single base substitution T C intron_variant LUSC-KR 13 27645847 27645847 single base substitution C G intron_variant LUSC-KR 13 27646371 27646371 single base substitution G A intron_variant LUSC-KR 13 27648212 27648212 single base substitution G A intron_variant LUSC-KR 13 27650231 27650231 single base substitution G C intron_variant LUSC-KR 13 27654584 27654584 single base substitution G C intron_variant LUSC-KR 13 27662956 27662956 single base substitution G A intron_variant LUSC-KR 13 27665067 27665067 single base substitution T C intron_variant LUSC-KR 13 27665736 27665736 single base substitution C A intron_variant LUSC-KR 13 27669120 27669120 single base substitution T C intron_variant LUSC-KR 13 27677823 27677823 single base substitution T A intron_variant LUSC-KR 13 27680850 27680850 single base substitution A T intron_variant LUSC-KR 13 27690716 27690716 single base substitution T C synonymous_variant A22A 66A>G LUSC-KR 13 27692642 27692642 single base substitution T C intron_variant LUSC-KR 13 27694511 27694511 single base substitution C A intron_variant LUSC-KR 13 27697062 27697062 single base substitution C T intron_variant LUSC-KR 13 27697222 27697222 single base substitution C G intron_variant LUSC-KR 13 27709615 27709615 single base substitution C T intron_variant LUSC-KR 13 27729611 27729611 single base substitution C A intron_variant LUSC-KR 13 27750203 27750203 single base substitution C A upstream_gene_variant MALY-DE 13 27644538 27644539 deletion of <=200bp GT - intron_variant MALY-DE 13 27652393 27652393 single base substitution A T intron_variant MALY-DE 13 27661237 27661237 insertion of <=200bp - TG intron_variant MALY-DE 13 27661237 27661238 deletion of <=200bp TG - intron_variant MALY-DE 13 27668975 27668975 single base substitution T C intron_variant MALY-DE 13 27669245 27669245 single base substitution T C intron_variant MALY-DE 13 27676155 27676155 single base substitution T C intron_variant MALY-DE 13 27677930 27677930 single base substitution A G intron_variant MALY-DE 13 27689970 27689970 single base substitution T C intron_variant MALY-DE 13 27699481 27699481 single base substitution T A intron_variant MALY-DE 13 27699789 27699789 single base substitution C T intron_variant MALY-DE 13 27702098 27702098 single base substitution T C intron_variant MALY-DE 13 27702241 27702241 single base substitution G A intron_variant MALY-DE 13 27702598 27702598 single base substitution A G intron_variant MALY-DE 13 27714122 27714122 single base substitution A G intron_variant MALY-DE 13 27714782 27714782 single base substitution C T intron_variant MALY-DE 13 27716863 27716863 single base substitution C T intron_variant MALY-DE 13 27718036 27718036 single base substitution A G intron_variant MALY-DE 13 27721913 27721913 single base substitution T A intron_variant MALY-DE 13 27729178 27729178 deletion of <=200bp T - intron_variant MALY-DE 13 27734568 27734568 insertion of <=200bp - A intron_variant MALY-DE 13 27735995 27735995 single base substitution G C intron_variant MALY-DE 13 27738544 27738544 single base substitution A T intron_variant MALY-DE 13 27739349 27739349 single base substitution C T intron_variant MALY-DE 13 27741180 27741180 single base substitution G A intron_variant MALY-DE 13 27744005 27744005 single base substitution G C intron_variant MALY-DE 13 27744526 27744526 single base substitution T A intron_variant MALY-DE 13 27744677 27744677 single base substitution G A intron_variant MALY-DE 13 27747360 27747360 single base substitution C A upstream_gene_variant MALY-DE 13 27747403 27747403 single base substitution T C upstream_gene_variant MALY-DE 13 27750002 27750002 single base substitution A G upstream_gene_variant MELA-AU 13 27635294 27635294 single base substitution G A downstream_gene_variant MELA-AU 13 27635596 27635596 single base substitution T C downstream_gene_variant MELA-AU 13 27636248 27636249 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 13 27636779 27636779 single base substitution G A downstream_gene_variant MELA-AU 13 27637039 27637039 single base substitution G A downstream_gene_variant MELA-AU 13 27637653 27637653 single base substitution G A downstream_gene_variant MELA-AU 13 27638538 27638538 single base substitution C A downstream_gene_variant MELA-AU 13 27638541 27638541 single base substitution C T downstream_gene_variant MELA-AU 13 27638790 27638790 single base substitution G A downstream_gene_variant MELA-AU 13 27638929 27638929 single base substitution G A downstream_gene_variant MELA-AU 13 27638997 27638997 single base substitution G A downstream_gene_variant MELA-AU 13 27639361 27639361 single base substitution G A downstream_gene_variant MELA-AU 13 27639492 27639492 single base substitution G A downstream_gene_variant MELA-AU 13 27639508 27639508 single base substitution A G downstream_gene_variant MELA-AU 13 27639883 27639883 single base substitution G T downstream_gene_variant MELA-AU 13 27640180 27640180 single base substitution G A downstream_gene_variant MELA-AU 13 27640182 27640182 single base substitution T A downstream_gene_variant MELA-AU 13 27640565 27640565 single base substitution A T 3_prime_UTR_variant MELA-AU 13 27641728 27641728 single base substitution G A 3_prime_UTR_variant MELA-AU 13 27641897 27641897 single base substitution A G 3_prime_UTR_variant MELA-AU 13 27642010 27642010 single base substitution G A 3_prime_UTR_variant MELA-AU 13 27642152 27642152 single base substitution G A 3_prime_UTR_variant MELA-AU 13 27642159 27642159 single base substitution G A 3_prime_UTR_variant MELA-AU 13 27642171 27642171 single base substitution T C 3_prime_UTR_variant MELA-AU 13 27642396 27642396 single base substitution G A 3_prime_UTR_variant MELA-AU 13 27642430 27642430 single base substitution G A 3_prime_UTR_variant MELA-AU 13 27643364 27643365 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 13 27644466 27644466 single base substitution G A intron_variant MELA-AU 13 27644562 27644562 single base substitution G A intron_variant MELA-AU 13 27644574 27644574 single base substitution G T intron_variant MELA-AU 13 27644715 27644715 single base substitution G A intron_variant MELA-AU 13 27644826 27644826 single base substitution G A intron_variant MELA-AU 13 27645022 27645022 single base substitution G A intron_variant MELA-AU 13 27645912 27645912 single base substitution G A intron_variant MELA-AU 13 27646301 27646301 single base substitution T C intron_variant MELA-AU 13 27646908 27646908 single base substitution A G intron_variant MELA-AU 13 27646947 27646947 single base substitution G A intron_variant MELA-AU 13 27647389 27647389 single base substitution C T intron_variant MELA-AU 13 27647679 27647679 single base substitution G A intron_variant MELA-AU 13 27647766 27647766 single base substitution G A intron_variant MELA-AU 13 27648080 27648080 single base substitution A C intron_variant MELA-AU 13 27648202 27648202 single base substitution G A intron_variant MELA-AU 13 27648691 27648691 single base substitution G A intron_variant MELA-AU 13 27648848 27648848 single base substitution A C intron_variant MELA-AU 13 27648909 27648909 single base substitution A G intron_variant MELA-AU 13 27649168 27649168 single base substitution G A intron_variant MELA-AU 13 27649991 27649991 single base substitution A G intron_variant MELA-AU 13 27651552 27651552 single base substitution G A intron_variant MELA-AU 13 27651557 27651557 single base substitution G A intron_variant MELA-AU 13 27651902 27651902 single base substitution G A intron_variant MELA-AU 13 27651938 27651938 single base substitution A G intron_variant MELA-AU 13 27653905 27653906 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 27656005 27656005 single base substitution A C intron_variant MELA-AU 13 27656162 27656162 single base substitution G A intron_variant MELA-AU 13 27656922 27656923 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 27657900 27657900 single base substitution A G intron_variant MELA-AU 13 27658740 27658740 single base substitution C T intron_variant MELA-AU 13 27660731 27660731 single base substitution A T intron_variant MELA-AU 13 27661081 27661081 single base substitution G A intron_variant MELA-AU 13 27661457 27661457 single base substitution G A intron_variant MELA-AU 13 27661474 27661474 single base substitution G A intron_variant MELA-AU 13 27661677 27661677 single base substitution T A intron_variant MELA-AU 13 27662533 27662533 single base substitution G A intron_variant MELA-AU 13 27662541 27662541 single base substitution G A intron_variant MELA-AU 13 27663024 27663024 single base substitution G A intron_variant MELA-AU 13 27663141 27663141 single base substitution G A intron_variant MELA-AU 13 27663573 27663573 single base substitution G A intron_variant MELA-AU 13 27664144 27664144 single base substitution G A intron_variant MELA-AU 13 27664660 27664660 single base substitution G A intron_variant MELA-AU 13 27665129 27665129 single base substitution G C intron_variant MELA-AU 13 27665496 27665496 single base substitution G A intron_variant MELA-AU 13 27665861 27665861 single base substitution G A intron_variant MELA-AU 13 27665933 27665933 single base substitution T C intron_variant MELA-AU 13 27666111 27666135 deletion of <=200bp CTGTGCATACACATACGATAACACA - intron_variant MELA-AU 13 27666124 27666138 deletion of <=200bp TACGATAACACACTG - intron_variant MELA-AU 13 27666185 27666185 single base substitution G A intron_variant MELA-AU 13 27666497 27666497 single base substitution G A intron_variant MELA-AU 13 27667383 27667383 single base substitution G A intron_variant MELA-AU 13 27667452 27667452 insertion of <=200bp - C intron_variant MELA-AU 13 27667715 27667715 single base substitution G A intron_variant MELA-AU 13 27667752 27667752 single base substitution G A intron_variant MELA-AU 13 27668388 27668388 single base substitution C T intron_variant MELA-AU 13 27668475 27668475 insertion of <=200bp - A intron_variant MELA-AU 13 27668749 27668749 single base substitution G A intron_variant MELA-AU 13 27668753 27668753 single base substitution A C intron_variant MELA-AU 13 27668861 27668861 single base substitution G A intron_variant MELA-AU 13 27669203 27669203 single base substitution G A intron_variant MELA-AU 13 27669466 27669466 single base substitution C T intron_variant MELA-AU 13 27670137 27670137 single base substitution G A intron_variant MELA-AU 13 27670895 27670895 single base substitution G A intron_variant MELA-AU 13 27671379 27671379 single base substitution G A intron_variant MELA-AU 13 27671521 27671521 single base substitution G A intron_variant MELA-AU 13 27671971 27671971 single base substitution G A intron_variant MELA-AU 13 27672250 27672250 single base substitution A G intron_variant MELA-AU 13 27672318 27672318 single base substitution G A intron_variant MELA-AU 13 27672537 27672537 single base substitution T A intron_variant MELA-AU 13 27673241 27673264 deletion of <=200bp TCCTATTTGGACATATATATTTAA - intron_variant MELA-AU 13 27673683 27673683 single base substitution C T intron_variant MELA-AU 13 27676601 27676601 single base substitution T A intron_variant MELA-AU 13 27676931 27676931 single base substitution G A intron_variant MELA-AU 13 27677145 27677145 single base substitution A G intron_variant MELA-AU 13 27677397 27677397 single base substitution G A intron_variant MELA-AU 13 27677741 27677741 single base substitution A T intron_variant MELA-AU 13 27677927 27677927 single base substitution G A intron_variant MELA-AU 13 27678137 27678137 single base substitution G A intron_variant MELA-AU 13 27678693 27678693 single base substitution T G intron_variant MELA-AU 13 27678707 27678707 single base substitution G A intron_variant MELA-AU 13 27678709 27678709 single base substitution G A intron_variant MELA-AU 13 27679186 27679186 single base substitution A G intron_variant MELA-AU 13 27679603 27679603 single base substitution G A intron_variant MELA-AU 13 27680528 27680528 single base substitution G A intron_variant MELA-AU 13 27680712 27680712 single base substitution G A intron_variant MELA-AU 13 27681818 27681818 single base substitution G A intron_variant MELA-AU 13 27682495 27682495 single base substitution G A intron_variant MELA-AU 13 27682709 27682709 single base substitution G A intron_variant MELA-AU 13 27683109 27683109 single base substitution A G intron_variant MELA-AU 13 27684036 27684036 single base substitution G T intron_variant MELA-AU 13 27684934 27684934 single base substitution A G intron_variant MELA-AU 13 27685977 27685977 single base substitution G A intron_variant MELA-AU 13 27685989 27685989 single base substitution G T intron_variant MELA-AU 13 27686177 27686177 single base substitution G A intron_variant MELA-AU 13 27686343 27686343 single base substitution C A intron_variant MELA-AU 13 27686381 27686381 single base substitution A G intron_variant MELA-AU 13 27686838 27686838 single base substitution G A intron_variant MELA-AU 13 27687372 27687372 single base substitution T A intron_variant MELA-AU 13 27687560 27687560 single base substitution G A intron_variant MELA-AU 13 27687960 27687962 deletion of <=200bp GAG - intron_variant MELA-AU 13 27688477 27688477 single base substitution G A intron_variant MELA-AU 13 27688497 27688497 single base substitution G A intron_variant MELA-AU 13 27689295 27689295 single base substitution G A intron_variant MELA-AU 13 27689436 27689436 single base substitution G A intron_variant MELA-AU 13 27690519 27690519 single base substitution C T intron_variant MELA-AU 13 27691850 27691850 single base substitution G A intron_variant MELA-AU 13 27691936 27691936 single base substitution G A intron_variant MELA-AU 13 27692127 27692127 single base substitution G A intron_variant MELA-AU 13 27692137 27692138 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 27692213 27692213 single base substitution G A intron_variant MELA-AU 13 27692653 27692653 single base substitution A T intron_variant MELA-AU 13 27692748 27692748 single base substitution T C intron_variant MELA-AU 13 27693254 27693254 single base substitution T A intron_variant MELA-AU 13 27693683 27693683 single base substitution C T intron_variant MELA-AU 13 27693735 27693735 single base substitution T C intron_variant MELA-AU 13 27693835 27693835 single base substitution G C intron_variant MELA-AU 13 27694289 27694289 single base substitution T A intron_variant MELA-AU 13 27695022 27695022 single base substitution G A intron_variant MELA-AU 13 27695345 27695345 single base substitution G A intron_variant MELA-AU 13 27695352 27695352 single base substitution G A intron_variant MELA-AU 13 27695789 27695789 single base substitution G A intron_variant MELA-AU 13 27696251 27696251 single base substitution G A intron_variant MELA-AU 13 27696790 27696790 insertion of <=200bp - AAAT intron_variant MELA-AU 13 27696793 27696793 single base substitution T A intron_variant MELA-AU 13 27697427 27697427 single base substitution T C intron_variant MELA-AU 13 27697895 27697895 single base substitution A G intron_variant MELA-AU 13 27700299 27700299 single base substitution G A intron_variant MELA-AU 13 27700325 27700325 single base substitution G A intron_variant MELA-AU 13 27701163 27701163 single base substitution G A intron_variant MELA-AU 13 27701997 27701997 single base substitution T C intron_variant MELA-AU 13 27702270 27702270 single base substitution C A intron_variant MELA-AU 13 27702377 27702377 single base substitution G A intron_variant MELA-AU 13 27702585 27702585 single base substitution A T intron_variant MELA-AU 13 27702609 27702609 single base substitution G A intron_variant MELA-AU 13 27702675 27702675 single base substitution G A intron_variant MELA-AU 13 27702896 27702896 single base substitution G A intron_variant MELA-AU 13 27703175 27703175 single base substitution A G intron_variant MELA-AU 13 27704495 27704495 single base substitution G A intron_variant MELA-AU 13 27704573 27704573 single base substitution G A intron_variant MELA-AU 13 27704613 27704613 single base substitution G A intron_variant MELA-AU 13 27704798 27704799 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 13 27705731 27705731 single base substitution G A intron_variant MELA-AU 13 27706162 27706162 single base substitution C A intron_variant MELA-AU 13 27706450 27706450 single base substitution C T intron_variant MELA-AU 13 27706639 27706639 single base substitution G A intron_variant MELA-AU 13 27706784 27706784 single base substitution C T intron_variant MELA-AU 13 27707772 27707772 single base substitution A T intron_variant MELA-AU 13 27708257 27708257 single base substitution G A intron_variant MELA-AU 13 27708708 27708708 single base substitution A G intron_variant MELA-AU 13 27708720 27708720 single base substitution T C intron_variant MELA-AU 13 27709456 27709456 single base substitution G A intron_variant MELA-AU 13 27710374 27710374 single base substitution C T intron_variant MELA-AU 13 27710458 27710458 single base substitution A G intron_variant MELA-AU 13 27710969 27710969 single base substitution G A intron_variant MELA-AU 13 27711914 27711914 single base substitution G A intron_variant MELA-AU 13 27712035 27712035 single base substitution A C intron_variant MELA-AU 13 27712639 27712639 single base substitution A C intron_variant MELA-AU 13 27714135 27714135 single base substitution A C intron_variant MELA-AU 13 27714374 27714374 single base substitution G A intron_variant MELA-AU 13 27714969 27714969 single base substitution G A intron_variant MELA-AU 13 27715233 27715233 single base substitution A G intron_variant MELA-AU 13 27715276 27715276 single base substitution C T intron_variant MELA-AU 13 27716569 27716569 single base substitution A G intron_variant MELA-AU 13 27716831 27716831 single base substitution C T intron_variant MELA-AU 13 27717881 27717882 multiple base substitution (>=2bp and <=200bp) CT TG intron_variant MELA-AU 13 27718133 27718133 single base substitution G A intron_variant MELA-AU 13 27718139 27718139 single base substitution G A intron_variant MELA-AU 13 27718268 27718268 single base substitution G A intron_variant MELA-AU 13 27718688 27718688 single base substitution T C intron_variant MELA-AU 13 27718713 27718713 single base substitution G A intron_variant MELA-AU 13 27719247 27719247 single base substitution A T intron_variant MELA-AU 13 27719249 27719249 single base substitution C T intron_variant MELA-AU 13 27719457 27719457 single base substitution T C intron_variant MELA-AU 13 27719896 27719896 single base substitution A C intron_variant MELA-AU 13 27720019 27720019 single base substitution A G intron_variant MELA-AU 13 27721049 27721049 single base substitution G A intron_variant MELA-AU 13 27721050 27721050 single base substitution G A intron_variant MELA-AU 13 27721358 27721358 single base substitution C T intron_variant MELA-AU 13 27722632 27722632 single base substitution G A intron_variant MELA-AU 13 27724144 27724145 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 27724425 27724425 single base substitution G A intron_variant MELA-AU 13 27724908 27724908 single base substitution G A intron_variant MELA-AU 13 27725215 27725215 single base substitution C A intron_variant MELA-AU 13 27725241 27725242 multiple base substitution (>=2bp and <=200bp) AG TA intron_variant MELA-AU 13 27725242 27725242 single base substitution G A intron_variant MELA-AU 13 27725247 27725247 single base substitution C T intron_variant MELA-AU 13 27725455 27725455 single base substitution A G intron_variant MELA-AU 13 27725464 27725464 single base substitution G A intron_variant MELA-AU 13 27725568 27725568 single base substitution G A intron_variant MELA-AU 13 27725608 27725608 single base substitution C T intron_variant MELA-AU 13 27725936 27725936 single base substitution A C intron_variant MELA-AU 13 27727006 27727006 single base substitution G A intron_variant MELA-AU 13 27727229 27727229 single base substitution G A intron_variant MELA-AU 13 27728978 27728978 single base substitution G A intron_variant MELA-AU 13 27729898 27729898 single base substitution G A intron_variant MELA-AU 13 27729931 27729931 single base substitution A G intron_variant MELA-AU 13 27731146 27731146 single base substitution T C intron_variant MELA-AU 13 27731551 27731551 single base substitution G A intron_variant MELA-AU 13 27732282 27732282 single base substitution A C intron_variant MELA-AU 13 27732495 27732495 single base substitution G A intron_variant MELA-AU 13 27732873 27732873 single base substitution G A intron_variant MELA-AU 13 27733349 27733349 insertion of <=200bp - ATA intron_variant MELA-AU 13 27734207 27734207 single base substitution G A intron_variant MELA-AU 13 27735038 27735038 single base substitution G A intron_variant MELA-AU 13 27735092 27735092 single base substitution C T intron_variant MELA-AU 13 27735270 27735270 single base substitution C T intron_variant MELA-AU 13 27737388 27737388 single base substitution G C intron_variant MELA-AU 13 27737914 27737914 single base substitution A G intron_variant MELA-AU 13 27737915 27737915 single base substitution A G intron_variant MELA-AU 13 27737984 27737984 single base substitution G A intron_variant MELA-AU 13 27739476 27739476 single base substitution G A intron_variant MELA-AU 13 27739517 27739517 single base substitution G A intron_variant MELA-AU 13 27740193 27740194 multiple base substitution (>=2bp and <=200bp) GA AT intron_variant MELA-AU 13 27740631 27740631 single base substitution G A intron_variant MELA-AU 13 27740676 27740676 single base substitution G A intron_variant MELA-AU 13 27741878 27741878 single base substitution A T intron_variant MELA-AU 13 27742330 27742330 single base substitution T A intron_variant MELA-AU 13 27743469 27743469 single base substitution G A intron_variant MELA-AU 13 27744071 27744072 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 27744796 27744796 single base substitution T C intron_variant MELA-AU 13 27745078 27745078 single base substitution C G intron_variant MELA-AU 13 27745241 27745242 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 27747565 27747565 single base substitution T C upstream_gene_variant MELA-AU 13 27747708 27747708 single base substitution G A upstream_gene_variant MELA-AU 13 27748679 27748679 single base substitution G A upstream_gene_variant MELA-AU 13 27748744 27748744 single base substitution G A upstream_gene_variant MELA-AU 13 27749061 27749061 single base substitution C T upstream_gene_variant MELA-AU 13 27749240 27749241 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 13 27749629 27749629 single base substitution C T upstream_gene_variant MELA-AU 13 27750713 27750713 single base substitution C T upstream_gene_variant MELA-AU 13 27750742 27750742 single base substitution C T upstream_gene_variant ORCA-IN 13 27658346 27658346 single base substitution C A intron_variant ORCA-IN 13 27664044 27664044 single base substitution C T missense_variant R237H 710G>A ORCA-IN 13 27707474 27707474 single base substitution G T intron_variant ORCA-IN 13 27730814 27730814 single base substitution T C intron_variant ORCA-IN 13 27734471 27734471 single base substitution G A intron_variant OV-AU 13 27640469 27640469 single base substitution G A 3_prime_UTR_variant OV-AU 13 27641141 27641141 single base substitution C G 3_prime_UTR_variant OV-AU 13 27647868 27647868 single base substitution C A intron_variant OV-AU 13 27649945 27649945 single base substitution T C intron_variant OV-AU 13 27654685 27654685 single base substitution C G intron_variant OV-AU 13 27654777 27654777 single base substitution C G intron_variant OV-AU 13 27657888 27657888 single base substitution T C intron_variant OV-AU 13 27663497 27663497 single base substitution G A intron_variant OV-AU 13 27667543 27667543 single base substitution G A intron_variant OV-AU 13 27674792 27674792 single base substitution C T intron_variant OV-AU 13 27676173 27676173 single base substitution A C intron_variant OV-AU 13 27694663 27694663 single base substitution C T intron_variant OV-AU 13 27714539 27714539 single base substitution T G intron_variant OV-AU 13 27718460 27718460 single base substitution T A intron_variant OV-AU 13 27718583 27718583 single base substitution T A intron_variant OV-AU 13 27727094 27727094 single base substitution A G intron_variant OV-AU 13 27728462 27728462 single base substitution A T intron_variant OV-AU 13 27732107 27732107 single base substitution T A intron_variant OV-AU 13 27732412 27732412 single base substitution T A intron_variant OV-AU 13 27739801 27739801 single base substitution A T intron_variant OV-AU 13 27744281 27744281 single base substitution G A intron_variant OV-AU 13 27745116 27745116 single base substitution A T intron_variant OV-AU 13 27747185 27747185 single base substitution T A upstream_gene_variant OV-AU 13 27749203 27749203 single base substitution T C upstream_gene_variant PACA-AU 13 27649894 27649894 single base substitution C T intron_variant PACA-AU 13 27658013 27658013 single base substitution T A intron_variant PACA-AU 13 27660299 27660299 single base substitution C G intron_variant PACA-AU 13 27660604 27660604 deletion of <=200bp A - intron_variant PACA-AU 13 27672501 27672501 insertion of <=200bp - T intron_variant PACA-AU 13 27673107 27673107 single base substitution A T intron_variant PACA-AU 13 27684268 27684268 single base substitution A T intron_variant PACA-AU 13 27692673 27692673 single base substitution T A intron_variant PACA-AU 13 27702584 27702584 deletion of <=200bp A - intron_variant PACA-AU 13 27703560 27703560 single base substitution C T intron_variant PACA-AU 13 27704471 27704471 single base substitution G A intron_variant PACA-AU 13 27704794 27704794 single base substitution C A intron_variant PACA-AU 13 27722933 27722933 insertion of <=200bp - ACACACACACACACACAC intron_variant PACA-AU 13 27723762 27723762 deletion of <=200bp G - intron_variant PACA-AU 13 27731378 27731378 single base substitution C T intron_variant PACA-AU 13 27738474 27738474 single base substitution T C intron_variant PACA-AU 13 27740241 27740241 single base substitution G A intron_variant PACA-AU 13 27749906 27749906 insertion of <=200bp - A upstream_gene_variant PACA-CA 13 27635772 27635772 single base substitution T C downstream_gene_variant PACA-CA 13 27635998 27635998 single base substitution C T downstream_gene_variant PACA-CA 13 27636411 27636411 single base substitution T G downstream_gene_variant PACA-CA 13 27636573 27636573 single base substitution C T downstream_gene_variant PACA-CA 13 27637138 27637138 single base substitution A T downstream_gene_variant PACA-CA 13 27637405 27637405 single base substitution G A downstream_gene_variant PACA-CA 13 27646341 27646363 deletion of <=200bp AGGGTCTTGTGTGTTATGGGGAG - intron_variant PACA-CA 13 27649769 27649769 single base substitution T C intron_variant PACA-CA 13 27649894 27649894 single base substitution C T intron_variant PACA-CA 13 27652560 27652560 single base substitution C T intron_variant PACA-CA 13 27655672 27655672 single base substitution G T intron_variant PACA-CA 13 27656919 27656919 single base substitution G C intron_variant PACA-CA 13 27658013 27658013 single base substitution T A intron_variant PACA-CA 13 27659437 27659437 single base substitution C G intron_variant PACA-CA 13 27661089 27661090 deletion of <=200bp TG - intron_variant PACA-CA 13 27663566 27663566 insertion of <=200bp - GAT intron_variant PACA-CA 13 27674491 27674491 single base substitution A G intron_variant PACA-CA 13 27675272 27675272 insertion of <=200bp - A intron_variant PACA-CA 13 27676147 27676147 insertion of <=200bp - GAA intron_variant PACA-CA 13 27677898 27677898 single base substitution A G intron_variant PACA-CA 13 27680848 27680848 single base substitution T A intron_variant PACA-CA 13 27680850 27680850 single base substitution A T intron_variant PACA-CA 13 27682966 27682966 single base substitution G A intron_variant PACA-CA 13 27683093 27683093 insertion of <=200bp - TG intron_variant PACA-CA 13 27690306 27690306 single base substitution A G intron_variant PACA-CA 13 27693368 27693368 single base substitution A T intron_variant PACA-CA 13 27693537 27693537 single base substitution G T intron_variant PACA-CA 13 27695493 27695493 single base substitution A T intron_variant PACA-CA 13 27695822 27695822 single base substitution C A intron_variant PACA-CA 13 27699923 27699923 single base substitution G A intron_variant PACA-CA 13 27700224 27700224 single base substitution C T intron_variant PACA-CA 13 27701872 27701872 single base substitution A T intron_variant PACA-CA 13 27702537 27702537 single base substitution G A intron_variant PACA-CA 13 27704676 27704676 insertion of <=200bp - A intron_variant PACA-CA 13 27707067 27707067 single base substitution T C intron_variant PACA-CA 13 27718897 27718897 single base substitution C T intron_variant PACA-CA 13 27724788 27724788 single base substitution A T intron_variant PACA-CA 13 27730110 27730110 insertion of <=200bp - A intron_variant PACA-CA 13 27735530 27735530 deletion of <=200bp C - intron_variant PACA-CA 13 27736524 27736524 single base substitution A C intron_variant PACA-CA 13 27736765 27736765 single base substitution G A intron_variant PACA-CA 13 27743041 27743041 single base substitution T A intron_variant PACA-CA 13 27743097 27743097 insertion of <=200bp - T intron_variant PACA-CA 13 27750166 27750166 single base substitution C A upstream_gene_variant PACA-CA 13 27750474 27750474 single base substitution A T upstream_gene_variant PACA-CA 13 27750695 27750695 single base substitution C T upstream_gene_variant PAEN-AU 13 27674598 27674598 single base substitution T C intron_variant PAEN-AU 13 27674618 27674618 single base substitution C A intron_variant PAEN-AU 13 27694621 27694621 single base substitution C G intron_variant PAEN-AU 13 27699455 27699455 single base substitution C T intron_variant PAEN-AU 13 27710922 27710922 single base substitution A C intron_variant PAEN-AU 13 27711163 27711163 single base substitution A C intron_variant PAEN-AU 13 27712922 27712922 single base substitution C G intron_variant PAEN-AU 13 27746171 27746171 single base substitution A C upstream_gene_variant PAEN-AU 13 27748264 27748264 single base substitution A T upstream_gene_variant PAEN-IT 13 27691447 27691447 single base substitution G T intron_variant PAEN-IT 13 27695498 27695498 single base substitution G A intron_variant PAEN-IT 13 27705493 27705493 single base substitution C G intron_variant PBCA-DE 13 27661237 27661237 insertion of <=200bp - TG intron_variant PBCA-DE 13 27661237 27661238 deletion of <=200bp TG - intron_variant PBCA-DE 13 27671441 27671441 insertion of <=200bp - AA intron_variant PBCA-DE 13 27675419 27675419 single base substitution C A intron_variant PBCA-DE 13 27676155 27676155 single base substitution T C intron_variant PBCA-DE 13 27705238 27705238 single base substitution G T intron_variant PBCA-DE 13 27714198 27714198 single base substitution A G intron_variant PBCA-DE 13 27717003 27717003 insertion of <=200bp - GAACACG intron_variant PBCA-DE 13 27720836 27720836 single base substitution G T intron_variant PBCA-DE 13 27722514 27722514 insertion of <=200bp - TA intron_variant PBCA-DE 13 27727444 27727444 deletion of <=200bp A - intron_variant PBCA-DE 13 27731940 27731940 single base substitution C T intron_variant PBCA-DE 13 27734272 27734275 deletion of <=200bp AAAG - intron_variant PRAD-CA 13 27639119 27639119 single base substitution G T downstream_gene_variant PRAD-CA 13 27670026 27670026 single base substitution C A intron_variant PRAD-CA 13 27718896 27718896 single base substitution T C intron_variant PRAD-CA 13 27750503 27750503 single base substitution C T upstream_gene_variant PRAD-UK 13 27636141 27636141 single base substitution G A downstream_gene_variant PRAD-UK 13 27676894 27676894 single base substitution A T intron_variant PRAD-UK 13 27708364 27708364 single base substitution T C intron_variant PRAD-UK 13 27709739 27709739 single base substitution C A intron_variant PRAD-UK 13 27715900 27715900 deletion of <=200bp G - intron_variant PRAD-UK 13 27718458 27718458 single base substitution C T intron_variant PRAD-UK 13 27736018 27736018 single base substitution C G intron_variant PRAD-UK 13 27740773 27740773 single base substitution A C intron_variant PRAD-US 13 27649444 27649444 single base substitution T A synonymous_variant T272T 816A>T READ-US 13 27680051 27680051 single base substitution G T missense_variant L54I 160C>A RECA-EU 13 27651239 27651239 single base substitution G A intron_variant RECA-EU 13 27660595 27660595 single base substitution G T intron_variant RECA-EU 13 27663501 27663501 single base substitution A C intron_variant RECA-EU 13 27663511 27663511 single base substitution T G intron_variant RECA-EU 13 27681123 27681123 single base substitution A G intron_variant RECA-EU 13 27687248 27687248 single base substitution T A intron_variant RECA-EU 13 27695306 27695306 single base substitution A T intron_variant RECA-EU 13 27710583 27710583 single base substitution C T intron_variant RECA-EU 13 27711775 27711775 single base substitution C T intron_variant RECA-EU 13 27712244 27712244 single base substitution T A intron_variant RECA-EU 13 27732749 27732749 single base substitution G T intron_variant RECA-EU 13 27743984 27743984 single base substitution C T intron_variant SKCA-BR 13 27637435 27637435 single base substitution A G downstream_gene_variant SKCA-BR 13 27638316 27638316 single base substitution C T downstream_gene_variant SKCA-BR 13 27638861 27638861 single base substitution G A downstream_gene_variant SKCA-BR 13 27639170 27639170 single base substitution G A downstream_gene_variant SKCA-BR 13 27641274 27641274 single base substitution T A 3_prime_UTR_variant SKCA-BR 13 27642931 27642931 single base substitution G A 3_prime_UTR_variant SKCA-BR 13 27643968 27643968 single base substitution C A intron_variant SKCA-BR 13 27646063 27646063 single base substitution A C intron_variant SKCA-BR 13 27647073 27647073 single base substitution G A intron_variant SKCA-BR 13 27648320 27648320 single base substitution G A intron_variant SKCA-BR 13 27653366 27653366 single base substitution T G intron_variant SKCA-BR 13 27655146 27655146 insertion of <=200bp - AT intron_variant SKCA-BR 13 27660217 27660217 single base substitution G A intron_variant SKCA-BR 13 27660290 27660290 single base substitution G A intron_variant SKCA-BR 13 27660330 27660330 single base substitution A T intron_variant SKCA-BR 13 27661388 27661394 deletion of <=200bp ATGTGTG - intron_variant SKCA-BR 13 27661419 27661419 single base substitution T C intron_variant SKCA-BR 13 27668293 27668293 single base substitution A T intron_variant SKCA-BR 13 27668373 27668373 single base substitution G A intron_variant SKCA-BR 13 27670274 27670277 deletion of <=200bp CTTA - intron_variant SKCA-BR 13 27670280 27670280 single base substitution A C intron_variant SKCA-BR 13 27673279 27673279 single base substitution G A intron_variant SKCA-BR 13 27674284 27674284 single base substitution G A intron_variant SKCA-BR 13 27677744 27677744 insertion of <=200bp - AAAATAATAAT intron_variant SKCA-BR 13 27680541 27680541 single base substitution G A intron_variant SKCA-BR 13 27684264 27684264 insertion of <=200bp - TTAAAAAA intron_variant SKCA-BR 13 27684264 27684264 insertion of <=200bp - TTAAAA intron_variant SKCA-BR 13 27684265 27684265 single base substitution A T intron_variant SKCA-BR 13 27685243 27685243 single base substitution T C intron_variant SKCA-BR 13 27686276 27686276 single base substitution G A intron_variant SKCA-BR 13 27686277 27686277 single base substitution G A intron_variant SKCA-BR 13 27687903 27687903 single base substitution G A intron_variant SKCA-BR 13 27688351 27688351 insertion of <=200bp - GA intron_variant SKCA-BR 13 27688906 27688907 deletion of <=200bp TA - intron_variant SKCA-BR 13 27690448 27690449 deletion of <=200bp CA - intron_variant SKCA-BR 13 27694989 27694989 single base substitution G A intron_variant SKCA-BR 13 27696603 27696603 single base substitution G A intron_variant SKCA-BR 13 27696772 27696772 single base substitution G A intron_variant SKCA-BR 13 27700040 27700040 single base substitution A G intron_variant SKCA-BR 13 27705455 27705455 single base substitution G A intron_variant SKCA-BR 13 27705520 27705520 single base substitution C A intron_variant SKCA-BR 13 27705917 27705917 single base substitution A C intron_variant SKCA-BR 13 27706127 27706127 single base substitution G A intron_variant SKCA-BR 13 27707019 27707019 single base substitution A C intron_variant SKCA-BR 13 27713169 27713169 single base substitution G C intron_variant SKCA-BR 13 27714898 27714898 single base substitution C T intron_variant SKCA-BR 13 27715616 27715616 single base substitution G A intron_variant SKCA-BR 13 27718559 27718559 single base substitution G A intron_variant SKCA-BR 13 27718636 27718637 deletion of <=200bp TA - intron_variant SKCA-BR 13 27718884 27718885 deletion of <=200bp GT - intron_variant SKCA-BR 13 27720437 27720437 single base substitution A G intron_variant SKCA-BR 13 27722264 27722264 insertion of <=200bp - CA intron_variant SKCA-BR 13 27722813 27722813 insertion of <=200bp - TTATA intron_variant SKCA-BR 13 27722932 27722932 insertion of <=200bp - TACACACACACACACAC intron_variant SKCA-BR 13 27726694 27726694 single base substitution A G intron_variant SKCA-BR 13 27734632 27734632 single base substitution T C intron_variant SKCA-BR 13 27734907 27734907 single base substitution G A intron_variant SKCA-BR 13 27739094 27739094 single base substitution A T intron_variant SKCA-BR 13 27741410 27741410 single base substitution T A intron_variant SKCA-BR 13 27741411 27741411 single base substitution A T intron_variant SKCA-BR 13 27745827 27745827 single base substitution A G 5_prime_UTR_variant SKCA-BR 13 27746334 27746334 single base substitution A G upstream_gene_variant SKCA-BR 13 27749313 27749313 single base substitution A G upstream_gene_variant SKCA-BR 13 27749718 27749718 single base substitution G A upstream_gene_variant SKCA-BR 13 27750911 27750911 single base substitution C T upstream_gene_variant SKCM-US 13 27690693 27690693 single base substitution T G missense_variant E30A 89A>C STAD-US 13 27645260 27645260 single base substitution G A missense_variant A320V 959C>T STAD-US 13 27645266 27645266 single base substitution T C missense_variant Y318C 953A>G STAD-US 13 27664254 27664254 single base substitution G A synonymous_variant D205D 615C>T STAD-US 13 27664270 27664270 deletion of <=200bp A - frameshift_variant L200 STAD-US 13 27679880 27679880 single base substitution G A missense_variant R111W 331C>T UCEC-US 13 27643492 27643492 single base substitution G T missense_variant F347L 1041C>A UCEC-US 13 27645220 27645220 single base substitution G A synonymous_variant D333D 999C>T UCEC-US 13 27645275 27645275 single base substitution C T missense_variant R315Q 944G>A UCEC-US 13 27649407 27649407 single base substitution G A missense_variant R285C 853C>T UCEC-US 13 27649442 27649442 single base substitution T G missense_variant K273T 818A>C UCEC-US 13 27649506 27649506 single base substitution G A missense_variant P252S 754C>T UCEC-US 13 27669856 27669856 single base substitution C T missense_variant R152H 455G>A UCEC-US 13 27669927 27669927 single base substitution G T missense_variant F128L 384C>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 112565 COSM95683 c.280C>T p.Q94* Substitution - Nonsense 13:27105794-27105794 - TCGA-F5-6814-01 COSM3417498 c.160C>A p.L54I Substitution - Missense 13:27105914-27105914 - TCGA-CH-5752-01 COSM1128388 c.816A>T p.T272T Substitution - coding silent 13:27075307-27075307 - TCGA-A7-A13E-01 COSM432258 c.733C>T p.R245W Substitution - Missense 13:27089884-27089884 - TCGA-B5-A11E-01 COSM432257 c.944G>A p.R315Q Substitution - Missense 13:27071138-27071138 - CRC-06T COSM5456383 c.230A>G p.K77R Substitution - Missense 13:27105844-27105844 - BD124T COSM5362058 c.130-10delT p.? Unknown 13:27105954-27105954 - TCGA-BS-A0UF-01 COSM946399 c.1041C>A p.F347L Substitution - Missense 13:27069355-27069355 - EOPC-010_tumor COSM3716413 c.650+9A>C p.? Unknown 13:27090073-27090073 - TCGA-G3-A25W-01 COSM4927181 c.1012-2A>G p.? Unknown 13:27069386-27069386 - B65-Tumor COSM1747384 c.1075G>A p.E359K Substitution - Missense 13:27069321-27069321 - 1N59-VS-1T59 COSM4977550 c.763C>G p.L255V Substitution - Missense 13:27075360-27075360 - TCGA-E9-A3X8-01 COSM3813648 c.689A>G p.K230R Substitution - Missense 13:27089928-27089928 - TCGA-B5-A0JY-01 COSM946402 c.853C>T p.R285C Substitution - Missense 13:27075270-27075270 - TCGA-D5-6930-01 COSM1366150 c.750delA p.K250fs*4 Deletion - Frameshift 13:27075373-27075373 - 3N05-VS-3T05 COSM946400 c.999C>T p.D333D Substitution - coding silent 13:27071083-27071083 - B104-0-Tumor COSM1747385 c.626A>G p.N209S Substitution - Missense 13:27090106-27090106 - TCGA-32-5222-01 COSM432258 c.733C>T p.R245W Substitution - Missense 13:27089884-27089884 - S00936 COSM316398 c.332G>A p.R111Q Substitution - Missense 13:27105742-27105742 - TCGA-HW-8321-01 COSM3968588 c.207G>A p.A69A Substitution - coding silent 13:27105867-27105867 - HT29 COSM2069943 c.580A>C p.S194R Substitution - Missense 13:27090152-27090152 - TCGA-B6-A0RV-01 COSM432258 c.733C>T p.R245W Substitution - Missense 13:27089884-27089884 - TCGA-A4-A48D-01 COSM3987350 c.694T>A p.Y232N Substitution - Missense 13:27089923-27089923 - T3306 COSM4739640 c.576A>G p.I192M Substitution - Missense 13:27090156-27090156 - 587376 COSM1231958 c.202C>A p.L68I Substitution - Missense 13:27105872-27105872 - T155 COSM1176831 c.625A>C p.N209H Substitution - Missense 13:27090107-27090107 - TCGA-G4-6302-01 COSM5174727 c.870A>C p.S290S Substitution - coding silent 13:27075253-27075253 - 52T COSM3711021 c.710G>A p.R237H Substitution - Missense 13:27089907-27089907 - TCGA-BR-A4IY-01 COSM4046804 c.959C>T p.A320V Substitution - Missense 13:27071123-27071123 - 587284 COSM1231957 c.1100A>G p.Q367R Substitution - Missense 13:27069296-27069296 - I2L-P7-Tumor-Organoid COSM5362058 c.130-10delT p.? Unknown 13:27105954-27105954 - TCGA-FU-A3HZ-01 COSM4839761 c.800A>T p.Q267L Substitution - Missense 13:27075323-27075323 - HCC2998 COSM2069951 c.190C>T p.R64W Substitution - Missense 13:27105884-27105884 - HN_62825 COSM130106 c.1022C>A p.A341E Substitution - Missense 13:27069374-27069374 - B104-0 COSM1747385 c.626A>G p.N209S Substitution - Missense 13:27090106-27090106 - YUROG COSM5376576 c.718C>G p.Q240E Substitution - Missense 13:27089899-27089899 - TCGA-AN-A0XN-01 COSM432257 c.944G>A p.R315Q Substitution - Missense 13:27071138-27071138 - LIM2405 COSM4613347 c.750_751insA p.L251fs*13 Insertion - Frameshift 13:27075372-27075373 - C058 COSM5525794 c.766G>A p.A256T Substitution - Missense 13:27075357-27075357 - 587220 COSM1231955 c.854G>A p.R285H Substitution - Missense 13:27075269-27075269 - TCGA-IH-A3EA-01 COSM3468024 c.89A>C p.E30A Substitution - Missense 13:27116556-27116556 - TCGA-D1-A16Y-01 COSM946403 c.818A>C p.K273T Substitution - Missense 13:27075305-27075305 - TCGA-BH-A0B9-01 COSM432260 c.241C>A p.L81I Substitution - Missense 13:27105833-27105833 - PDA_033 COSM4999763 c.52G>T p.A18S Substitution - Missense 13:27116593-27116593 - PD4076a COSM165427 c.634A>G p.I212V Substitution - Missense 13:27090098-27090098 - TCGA-DM-A28H-01 COSM1366153 c.62_63insCC p.A22fs*3 Insertion - Frameshift 13:27116582-27116583 - TCGA-AA-A010-01 COSM286378 c.985T>G p.L329V Substitution - Missense 13:27071097-27071097 - 172T COSM1725910 c.707G>A p.C236Y Substitution - Missense 13:27089910-27089910 - PD4076a COSM165427 c.634A>G p.I212V Substitution - Missense 13:27090098-27090098 - 4760_CLM COSM5754059 c.4G>T p.E2* Substitution - Nonsense 13:27171636-27171636 - 2246952 COSM4413586 c.195A>C p.E65D Substitution - Missense 13:27105879-27105879 - COLO678 COSM2069949 c.313A>G p.K105E Substitution - Missense 13:27105761-27105761 - TCGA-A6-6782-01 COSM1366151 c.184C>G p.P62A Substitution - Missense 13:27105890-27105890 - 1N27-VS-1T27 COSM4973634 c.855T>C p.R285R Substitution - coding silent 13:27075268-27075268 - TCGA-BR-A4QL-01 COSM416400 c.953A>G p.Y318C Substitution - Missense 13:27071129-27071129 - ME041T COSM228154 c.56A>G p.N19S Substitution - Missense 13:27116589-27116589 - TCGA-AC-A23H-01 COSM3813649 c.568G>A p.E190K Substitution - Missense 13:27095606-27095606 - ESO-171 COSM1270040 c.943C>T p.R315* Substitution - Nonsense 13:27071139-27071139 - TCGA-B8-4621-01 COSM469304 c.147C>A p.Y49* Substitution - Nonsense 13:27105927-27105927 - 587278 COSM1231956 c.1000G>A p.D334N Substitution - Missense 13:27071082-27071082 - OSCC-GB_00520111 COSM3711021 c.710G>A p.R237H Substitution - Missense 13:27089907-27089907 - TCGA-CD-A4MG-01 COSM4046806 c.331C>T p.R111W Substitution - Missense 13:27105743-27105743 - TCGA-DK-A1A3-01 COSM416400 c.953A>G p.Y318C Substitution - Missense 13:27071129-27071129 - TCGA-BS-A0TA-01 COSM946404 c.754C>T p.P252S Substitution - Missense 13:27075369-27075369 - B65 COSM1747384 c.1075G>A p.E359K Substitution - Missense 13:27069321-27069321 - TCGA-D1-A103-01 COSM946400 c.999C>T p.D333D Substitution - coding silent 13:27071083-27071083 - SJHGG003_A COSM177618 c.51C>T p.G17G Substitution - coding silent 13:27116594-27116594 - PT45 COSM5927705 c.119G>A p.G40E Substitution - Missense 13:27116526-27116526 - TCGA-AD-6895-01 COSM1366152 c.145T>A p.Y49N Substitution - Missense 13:27105929-27105929 - 1N59-VS-1T59 COSM4977549 c.805C>G p.H269D Substitution - Missense 13:27075318-27075318 - TCGA-BG-A0MS-01 COSM946405 c.455G>A p.R152H Substitution - Missense 13:27095719-27095719 - TCGA-BS-A0UM-01 COSM946401 c.901G>A p.D301N Substitution - Missense 13:27075222-27075222 - TCGA-BR-4368-01 COSM4046805 c.615C>T p.D205D Substitution - coding silent 13:27090117-27090117 - TCGA-AX-A05Z-01 COSM946406 c.384C>A p.F128L Substitution - Missense 13:27095790-27095790 - CSCC-44-T COSM4547650 c.427G>C p.E143Q Substitution - Missense 13:27095747-27095747 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.42376;Hs.42400 13q12.13

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Synonymous p.N51N c.153T>C 13 27680058 BRCA C T Missense p.R111Q c.332G>A 13 27679879 SCLC C T Missense p.R152H c.455G>A 13 27669856 UCEC C T Missense p.R315Q c.944G>A 13 27645275 BRCA G A Missense p.P252S c.754C>T 13 27649506 UCEC G A Missense p.R245W c.733C>T 13 27664021 BRCA G A Missense p.R245W c.733C>T 13 27664021 GBM G A Nonsense p.R315* c.943C>T 13 27645276 ESCA G A Synonymous p.D205D c.615C>T 13 27664254 STAD G T Missense p.A341E c.1022C>A 13 27643511 HNSC G T Missense p.L81I c.241C>A 13 27679970 BRCA G T Missense p.P313H c.938C>A 13 27645281 CM G T Nonsense p.Y49* c.147C>A 13 27680064 RCCC T A IntronicSNV . c.344-3274A>T 13 27673241 CLL T A Missense p.L41F c.123A>T 13 27690659 LUAD T A Synonymous p.T272T c.816A>T 13 27649444 PRAD T C Missense p.I212V c.634A>G 13 27664235 BRCA T C Missense p.Y318C c.953A>G 13 27645266 BLCA T C Synonymous p.S290S c.870A>G 13 27649390 HNSC TGAA - Frameshift p.F176Wfs*4 c.527_530delTTCA 13 27669781 BRCA T G Missense p.E30A c.89A>C 13 27690693 CM T G Missense p.K273T c.818A>C 13 27649442 UCEC