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 7 66236889 66236889 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 g.chr7:66236889G>A c.42G>A c.(40-42)atG>atA p.M14I BLCA 7 66240337 66240337 + Silent SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 g.chr7:66240337G>A c.303G>A c.(301-303)gtG>gtA p.V101V BLCA 7 66262459 66262459 + Missense_Mutation SNP G G A TCGA-K4-A5RJ-01A-11D-A289-08 TCGA-K4-A5RJ-10A-01D-A289-08 g.chr7:66262459G>A c.694G>A c.(694-696)Gag>Aag p.E232K BLCA 7 66264316 66264316 + Silent SNP G G A TCGA-UY-A9PB-01A-11D-A38G-08 TCGA-UY-A9PB-10A-01D-A38J-08 g.chr7:66264316G>A c.735G>A c.(733-735)ctG>ctA p.L245L BLCA 7 66264377 66264377 + Missense_Mutation SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 g.chr7:66264377G>C c.796G>C c.(796-798)Gat>Cat p.D266H BLCA 7 66270179 66270179 + Silent SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 g.chr7:66270179C>T c.873C>T c.(871-873)atC>atT p.I291I BLCA 7 66273984 66273984 + Missense_Mutation SNP G G A TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 g.chr7:66273984G>A c.1189G>A c.(1189-1191)Gag>Aag p.E397K BLCA 7 66274059 66274059 + Missense_Mutation SNP G G C TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 g.chr7:66274059G>C c.1264G>C c.(1264-1266)Gaa>Caa p.E422Q BRCA 7 66236971 66236974 + Frame_Shift_Del DEL CCTG CCTG - TCGA-C8-A135-01A-11D-A10Y-09 TCGA-C8-A135-10A-02D-A110-09 g.chr7:66236971_66236974delCCTG c.85_88delCCTG c.(85-90)cctgccfs p.PA29fs BRCA 7 66240224 66240224 + Missense_Mutation SNP G G A TCGA-AC-A3W6-01A-12D-A228-09 TCGA-AC-A3W6-10A-01D-A22A-09 g.chr7:66240224G>A c.190G>A c.(190-192)Gag>Aag p.E64K BRCA 7 66274155 66274155 + Missense_Mutation SNP G G A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr7:66274155G>A c.1360G>A c.(1360-1362)Gag>Aag p.E454K CHOL 7 66270137 66270137 + Missense_Mutation SNP A A C TCGA-W5-AA39-01A-11D-A417-09 TCGA-W5-AA39-10A-01D-A41A-09 g.chr7:66270137A>C c.831A>C c.(829-831)gaA>gaC p.E277D COAD 7 66240321 66240321 + Missense_Mutation SNP G G A TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr7:66240321G>A c.287G>A c.(286-288)cGc>cAc p.R96H COAD 7 66270244 66270244 + Missense_Mutation SNP A A G TCGA-D5-5541-01A-01D-1650-10 TCGA-D5-5541-10A-02D-1650-10 g.chr7:66270244A>G c.938A>G c.(937-939)gAt>gGt p.D313G COAD 7 66273906 66273906 + Missense_Mutation SNP G G A TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr7:66273906G>A c.1111G>A c.(1111-1113)Gcc>Acc p.A371T COAD 7 66273942 66273942 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr7:66273942C>T c.1147C>T c.(1147-1149)Cgc>Tgc p.R383C COAD 7 66274041 66274041 + Missense_Mutation SNP C C A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr7:66274041C>A c.1246C>A c.(1246-1248)Ctc>Atc p.L416I COAD 7 66274190 66274190 + Silent SNP A A G TCGA-AA-3543-01A-01W-0833-10 TCGA-AA-3543-10A-01W-0833-10 g.chr7:66274190A>G c.1395A>G c.(1393-1395)caA>caG p.Q465Q COADREAD 7 66240321 66240321 + Missense_Mutation SNP G G A TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr7:66240321G>A c.287G>A c.(286-288)cGc>cAc p.R96H COADREAD 7 66270244 66270244 + Missense_Mutation SNP A A G TCGA-D5-5541-01A-01D-1650-10 TCGA-D5-5541-10A-02D-1650-10 g.chr7:66270244A>G c.938A>G c.(937-939)gAt>gGt p.D313G COADREAD 7 66273906 66273906 + Missense_Mutation SNP G G A TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr7:66273906G>A c.1111G>A c.(1111-1113)Gcc>Acc p.A371T COADREAD 7 66273942 66273942 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr7:66273942C>T c.1147C>T c.(1147-1149)Cgc>Tgc p.R383C COADREAD 7 66273978 66273978 + Nonsense_Mutation SNP G G T TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr7:66273978G>T c.1183G>T c.(1183-1185)Gaa>Taa p.E395* COADREAD 7 66274041 66274041 + Missense_Mutation SNP C C A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr7:66274041C>A c.1246C>A c.(1246-1248)Ctc>Atc p.L416I COADREAD 7 66274190 66274190 + Silent SNP A A G TCGA-AA-3543-01A-01W-0833-10 TCGA-AA-3543-10A-01W-0833-10 g.chr7:66274190A>G c.1395A>G c.(1393-1395)caA>caG p.Q465Q ESCA 7 66236988 66236988 + Missense_Mutation SNP C C G TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 g.chr7:66236988C>G c.102C>G c.(100-102)ttC>ttG p.F34L GBM 7 66240254 66240254 + Missense_Mutation SNP A A T TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 g.chr7:66240254A>T c.220A>T c.(220-222)Agc>Tgc p.S74C GBM 7 66240279 66240279 + Missense_Mutation SNP C C T TCGA-28-5219-01A-01D-1486-08 TCGA-28-5219-10A-01D-1486-08 g.chr7:66240279C>T c.245C>T c.(244-246)aCa>aTa p.T82I GBM 7 66240358 66240358 + Silent SNP T T C TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 g.chr7:66240358T>C c.324T>C c.(322-324)tcT>tcC p.S108S GBM 7 66262470 66262470 + Silent SNP T T C TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 g.chr7:66262470T>C c.705T>C c.(703-705)gaT>gaC p.D235D GBM 7 66270262 66270262 + Missense_Mutation SNP T T C TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 g.chr7:66270262T>C c.956T>C c.(955-957)cTc>cCc p.L319P GBMLGG 7 66240254 66240254 + Missense_Mutation SNP A A T TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 g.chr7:66240254A>T c.220A>T c.(220-222)Agc>Tgc p.S74C GBMLGG 7 66240279 66240279 + Missense_Mutation SNP C C T TCGA-28-5219-01A-01D-1486-08 TCGA-28-5219-10A-01D-1486-08 g.chr7:66240279C>T c.245C>T c.(244-246)aCa>aTa p.T82I GBMLGG 7 66240358 66240358 + Silent SNP T T C TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 g.chr7:66240358T>C c.324T>C c.(322-324)tcT>tcC p.S108S GBMLGG 7 66248680 66248680 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:66248680C>T c.365C>T c.(364-366)gCt>gTt p.A122V GBMLGG 7 66262470 66262470 + Silent SNP T T C TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 g.chr7:66262470T>C c.705T>C c.(703-705)gaT>gaC p.D235D GBMLGG 7 66270262 66270262 + Missense_Mutation SNP T T C TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 g.chr7:66270262T>C c.956T>C c.(955-957)cTc>cCc p.L319P HNSC 7 66236935 66236935 + Missense_Mutation SNP C C G TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 g.chr7:66236935C>G c.49C>G c.(49-51)Ctc>Gtc p.L17V HNSC 7 66248715 66248715 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 g.chr7:66248715G>A c.400G>A c.(400-402)Gaa>Aaa p.E134K HNSC 7 66262383 66262383 + Missense_Mutation SNP G G C TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 g.chr7:66262383G>C c.618G>C c.(616-618)aaG>aaC p.K206N HNSC 7 66264400 66264400 + Splice_Site SNP A A T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr7:66264400A>T c.819A>T c.(817-819)acA>acT p.T273T KIPAN 7 66248812 66248812 + Missense_Mutation SNP G G C TCGA-BP-4782-01A-02D-1421-08 TCGA-BP-4782-11A-01D-1421-08 g.chr7:66248812G>C c.497G>C c.(496-498)gGa>gCa p.G166A KIPAN 7 66260561 66260561 + Missense_Mutation SNP A A T TCGA-CZ-5466-01A-01D-1501-10 TCGA-CZ-5466-11A-01D-1501-10 g.chr7:66260561A>T c.577A>T c.(577-579)Atg>Ttg p.M193L KIRC 7 66248812 66248812 + Missense_Mutation SNP G G C TCGA-BP-4782-01A-02D-1421-08 TCGA-BP-4782-11A-01D-1421-08 g.chr7:66248812G>C c.497G>C c.(496-498)gGa>gCa p.G166A KIRC 7 66260561 66260561 + Missense_Mutation SNP A A T TCGA-CZ-5466-01A-01D-1501-10 TCGA-CZ-5466-11A-01D-1501-10 g.chr7:66260561A>T c.577A>T c.(577-579)Atg>Ttg p.M193L LGG 7 66248680 66248680 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:66248680C>T c.365C>T c.(364-366)gCt>gTt p.A122V LIHC 7 66270287 66270287 + Frame_Shift_Del DEL C C - TCGA-DD-A1EG-01A-11D-A20W-10 TCGA-DD-A1EG-10A-01D-A20W-10 g.chr7:66270287delC c.981delC c.(979-981)aacfs p.N327fs LIHC 7 66270375 66270375 + Missense_Mutation SNP A A T TCGA-G3-A7M5-01A-11D-A33Q-10 TCGA-G3-A7M5-10A-01D-A33Q-10 g.chr7:66270375A>T c.1069A>T c.(1069-1071)Acc>Tcc p.T357S LUAD 7 66240221 66240221 + Missense_Mutation SNP C C T TCGA-62-A46O-01A-11D-A24D-08 TCGA-62-A46O-10A-01D-A24F-08 g.chr7:66240221C>T c.187C>T c.(187-189)Cgg>Tgg p.R63W LUAD 7 66240233 66240233 + Missense_Mutation SNP G G C TCGA-05-4398-01A-01D-1265-08 TCGA-05-4398-10A-01D-1265-08 g.chr7:66240233G>C c.199G>C c.(199-201)Gag>Cag p.E67Q LUAD 7 66240365 66240365 + Missense_Mutation SNP G G A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 g.chr7:66240365G>A c.331G>A c.(331-333)Gtc>Atc p.V111I LUAD 7 66260522 66260522 + Nonsense_Mutation SNP G G T TCGA-50-5930-01A-11D-1753-08 TCGA-50-5930-11A-01D-1753-08 g.chr7:66260522G>T c.538G>T c.(538-540)Gag>Tag p.E180* LUAD 7 66264318 66264318 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02D-0969-08 TCGA-44-2656-10A-01D-0969-08 g.chr7:66264318G>T c.737G>T c.(736-738)cGc>cTc p.R246L LUAD 7 66264340 66264340 + Silent SNP G G T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 g.chr7:66264340G>T c.759G>T c.(757-759)ctG>ctT p.L253L LUAD 7 66270236 66270236 + Silent SNP G G A TCGA-17-Z057-01A-01W-0747-08 TCGA-17-Z057-11A-01W-0747-08 g.chr7:66270236G>A c.930G>A c.(928-930)gcG>gcA p.A310A LUAD 7 66270309 66270309 + Missense_Mutation SNP A A G TCGA-69-7979-01A-11D-2184-08 TCGA-69-7979-10A-01D-2184-08 g.chr7:66270309A>G c.1003A>G c.(1003-1005)Atc>Gtc p.I335V LUAD 7 66270381 66270381 + Missense_Mutation SNP C C G TCGA-44-7670-01A-11D-2063-08 TCGA-44-7670-10A-01D-2063-08 g.chr7:66270381C>G c.1075C>G c.(1075-1077)Ctg>Gtg p.L359V LUAD 7 66274043 66274043 + Silent SNP C C T TCGA-55-8085-01A-11D-2238-08 TCGA-55-8085-10A-01D-2238-08 g.chr7:66274043C>T c.1248C>T c.(1246-1248)ctC>ctT p.L416L LUAD 7 66274076 66274076 + Silent SNP C C T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 g.chr7:66274076C>T c.1281C>T c.(1279-1281)atC>atT p.I427I LUSC 7 66240357 66240357 + Missense_Mutation SNP C C T TCGA-34-2600-01A-01D-1522-08 TCGA-34-2600-11A-01D-1522-08 g.chr7:66240357C>T c.323C>T c.(322-324)tCt>tTt p.S108F LUSC 7 66270167 66270167 + Silent SNP G G A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 g.chr7:66270167G>A c.861G>A c.(859-861)aaG>aaA p.K287K LUSC 7 66273905 66273905 + Silent SNP C C T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 g.chr7:66273905C>T c.1110C>T c.(1108-1110)gaC>gaT p.D370D OV 7 66270245 66270245 + Silent SNP T T C TCGA-24-0979-01A-01W-0486-08 TCGA-24-0979-10B-01W-0486-08 g.chr7:66270245T>C c.939T>C c.(937-939)gaT>gaC p.D313D PAAD 7 66270342 66270342 + Nonsense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr7:66270342C>T c.1036C>T c.(1036-1038)Cga>Tga p.R346* PAAD 7 66274251 66274251 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr7:66274251C>T c.1456C>T c.(1456-1458)Cct>Tct p.P486S READ 7 66273978 66273978 + Nonsense_Mutation SNP G G T TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr7:66273978G>T c.1183G>T c.(1183-1185)Gaa>Taa p.E395* SKCM 7 66240222 66240222 + Missense_Mutation SNP G G A TCGA-EB-A5UN-06A-11D-A30X-08 TCGA-EB-A5UN-10A-01D-A30X-08 g.chr7:66240222G>A c.188G>A c.(187-189)cGg>cAg p.R63Q SKCM 7 66240227 66240227 + Missense_Mutation SNP G G A TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr7:66240227G>A c.193G>A c.(193-195)Gaa>Aaa p.E65K SKCM 7 66240307 66240307 + Silent SNP C C T TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr7:66240307C>T c.273C>T c.(271-273)acC>acT p.T91T SKCM 7 66264330 66264330 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 g.chr7:66264330C>T c.749C>T c.(748-750)cCt>cTt p.P250L SKCM 7 66270287 66270288 + Frame_Shift_Ins INS - - AA TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr7:66270287_66270288insAA c.981_982insAA c.(982-984)cccfs p.P328fs SKCM 7 66270291 66270291 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr7:66270291C>T c.985C>T c.(985-987)Cca>Tca p.P329S SKCM 7 66270292 66270292 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr7:66270292C>T c.986C>T c.(985-987)cCa>cTa p.P329L SKCM 7 66270311 66270311 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr7:66270311C>T c.1005C>T c.(1003-1005)atC>atT p.I335I SKCM 7 66273942 66273942 + Missense_Mutation SNP C C A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 g.chr7:66273942C>A c.1147C>A c.(1147-1149)Cgc>Agc p.R383S

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 7 66240337 66240337 single base substitution G A downstream_gene_variant BLCA-US 7 66240337 66240337 single base substitution G A exon_variant BLCA-US 7 66240337 66240337 single base substitution G A synonymous_variant V101V 303G>A BLCA-US 7 66240337 66240337 single base substitution G A synonymous_variant V114V 342G>A BLCA-US 7 66240337 66240337 single base substitution G A synonymous_variant V115V 345G>A BLCA-US 7 66270179 66270179 single base substitution C T 3_prime_UTR_variant BLCA-US 7 66270179 66270179 single base substitution C T exon_variant BLCA-US 7 66270179 66270179 single base substitution C T synonymous_variant I291I 873C>T BLCA-US 7 66270179 66270179 single base substitution C T synonymous_variant I304I 912C>T BLCA-US 7 66270179 66270179 single base substitution C T synonymous_variant I305I 915C>T BLCA-US 7 66273984 66273984 single base substitution G A 3_prime_UTR_variant BLCA-US 7 66273984 66273984 single base substitution G A downstream_gene_variant BLCA-US 7 66273984 66273984 single base substitution G A exon_variant BLCA-US 7 66273984 66273984 single base substitution G A missense_variant E397K 1189G>A BLCA-US 7 66273984 66273984 single base substitution G A missense_variant E410K 1228G>A BLCA-US 7 66273984 66273984 single base substitution G A missense_variant E411K 1231G>A BLCA-US 7 66274059 66274059 single base substitution G C 3_prime_UTR_variant BLCA-US 7 66274059 66274059 single base substitution G C downstream_gene_variant BLCA-US 7 66274059 66274059 single base substitution G C exon_variant BLCA-US 7 66274059 66274059 single base substitution G C missense_variant E422Q 1264G>C BLCA-US 7 66274059 66274059 single base substitution G C missense_variant E435Q 1303G>C BLCA-US 7 66274059 66274059 single base substitution G C missense_variant E436Q 1306G>C BOCA-FR 7 66199123 66199123 single base substitution T G intron_variant BOCA-FR 7 66212329 66212329 single base substitution G A intron_variant BRCA-EU 7 66142953 66142953 single base substitution G A upstream_gene_variant BRCA-EU 7 66143453 66143453 single base substitution G A upstream_gene_variant BRCA-EU 7 66143868 66143869 deletion of <=200bp TG - upstream_gene_variant BRCA-EU 7 66144724 66144724 single base substitution G T upstream_gene_variant BRCA-EU 7 66145843 66145843 single base substitution C T upstream_gene_variant BRCA-EU 7 66146501 66146501 single base substitution T G upstream_gene_variant BRCA-EU 7 66147574 66147574 single base substitution C T intron_variant BRCA-EU 7 66148151 66148151 single base substitution G A intron_variant BRCA-EU 7 66148834 66148834 single base substitution C A intron_variant BRCA-EU 7 66149476 66149476 single base substitution C A intron_variant BRCA-EU 7 66149811 66149811 single base substitution C T intron_variant BRCA-EU 7 66151176 66151176 single base substitution A G intron_variant BRCA-EU 7 66151326 66151326 single base substitution G C intron_variant BRCA-EU 7 66152486 66152487 deletion of <=200bp AG - intron_variant BRCA-EU 7 66153184 66153184 single base substitution G A intron_variant BRCA-EU 7 66153589 66153589 single base substitution A T intron_variant BRCA-EU 7 66155308 66155308 single base substitution G C intron_variant BRCA-EU 7 66155688 66155688 single base substitution A G intron_variant BRCA-EU 7 66155848 66155848 single base substitution G T intron_variant BRCA-EU 7 66157768 66157768 single base substitution A G intron_variant BRCA-EU 7 66158090 66158090 single base substitution G A intron_variant BRCA-EU 7 66160774 66160774 single base substitution G A intron_variant BRCA-EU 7 66160784 66160784 single base substitution C A intron_variant BRCA-EU 7 66162474 66162474 single base substitution C T intron_variant BRCA-EU 7 66162482 66162485 deletion of <=200bp CCTT - intron_variant BRCA-EU 7 66163538 66163538 single base substitution G A intron_variant BRCA-EU 7 66165010 66165010 single base substitution C T intron_variant BRCA-EU 7 66167599 66167599 single base substitution C G intron_variant BRCA-EU 7 66168536 66168536 single base substitution G C intron_variant BRCA-EU 7 66168608 66168608 deletion of <=200bp T - intron_variant BRCA-EU 7 66169622 66169622 single base substitution C T intron_variant BRCA-EU 7 66170156 66170156 single base substitution G C intron_variant BRCA-EU 7 66170301 66170301 single base substitution G T intron_variant BRCA-EU 7 66171933 66171933 single base substitution T A intron_variant BRCA-EU 7 66172623 66172623 single base substitution C T intron_variant BRCA-EU 7 66172643 66172643 single base substitution C G intron_variant BRCA-EU 7 66173732 66173732 single base substitution G T intron_variant BRCA-EU 7 66174058 66174058 single base substitution G A intron_variant BRCA-EU 7 66174600 66174600 single base substitution C G intron_variant BRCA-EU 7 66174654 66174654 single base substitution C G intron_variant BRCA-EU 7 66175409 66175409 single base substitution C G intron_variant BRCA-EU 7 66175990 66175990 deletion of <=200bp A - intron_variant BRCA-EU 7 66176870 66176870 single base substitution G T intron_variant BRCA-EU 7 66177013 66177013 single base substitution G C intron_variant BRCA-EU 7 66178407 66178407 single base substitution G A intron_variant BRCA-EU 7 66179996 66179996 single base substitution C T intron_variant BRCA-EU 7 66180467 66180467 single base substitution G A intron_variant BRCA-EU 7 66182305 66182305 single base substitution C T intron_variant BRCA-EU 7 66182714 66182714 insertion of <=200bp - T intron_variant BRCA-EU 7 66183428 66183428 single base substitution A G intron_variant BRCA-EU 7 66183511 66183511 single base substitution A T intron_variant BRCA-EU 7 66185860 66185860 single base substitution G T intron_variant BRCA-EU 7 66186202 66186202 single base substitution G T intron_variant BRCA-EU 7 66187622 66187623 deletion of <=200bp TT - intron_variant BRCA-EU 7 66187999 66187999 single base substitution A C intron_variant BRCA-EU 7 66188007 66188007 single base substitution G A intron_variant BRCA-EU 7 66188555 66188555 insertion of <=200bp - T intron_variant BRCA-EU 7 66188576 66188576 insertion of <=200bp - T intron_variant BRCA-EU 7 66189174 66189174 single base substitution C G intron_variant BRCA-EU 7 66189358 66189358 single base substitution T A intron_variant BRCA-EU 7 66189378 66189378 single base substitution C T intron_variant BRCA-EU 7 66189826 66189826 single base substitution T G intron_variant BRCA-EU 7 66190792 66190792 single base substitution C A intron_variant BRCA-EU 7 66190884 66190884 single base substitution C T intron_variant BRCA-EU 7 66191358 66191358 deletion of <=200bp T - intron_variant BRCA-EU 7 66194825 66194825 single base substitution C G intron_variant BRCA-EU 7 66195319 66195319 single base substitution C T intron_variant BRCA-EU 7 66196502 66196502 single base substitution G C intron_variant BRCA-EU 7 66196657 66196657 single base substitution T C intron_variant BRCA-EU 7 66197169 66197169 single base substitution G T intron_variant BRCA-EU 7 66198100 66198100 single base substitution C G intron_variant BRCA-EU 7 66198372 66198372 single base substitution G A intron_variant BRCA-EU 7 66199455 66199455 insertion of <=200bp - T intron_variant BRCA-EU 7 66199968 66199968 single base substitution C G intron_variant BRCA-EU 7 66200871 66200871 single base substitution A T intron_variant BRCA-EU 7 66200871 66200871 single base substitution A T upstream_gene_variant BRCA-EU 7 66201411 66201411 single base substitution T C intron_variant BRCA-EU 7 66201411 66201411 single base substitution T C upstream_gene_variant BRCA-EU 7 66202430 66202430 deletion of <=200bp A - intron_variant BRCA-EU 7 66202430 66202430 deletion of <=200bp A - upstream_gene_variant BRCA-EU 7 66203133 66203133 single base substitution G C intron_variant BRCA-EU 7 66203133 66203133 single base substitution G C upstream_gene_variant BRCA-EU 7 66203501 66203501 single base substitution G C intron_variant BRCA-EU 7 66203501 66203501 single base substitution G C upstream_gene_variant BRCA-EU 7 66203554 66203554 deletion of <=200bp A - intron_variant BRCA-EU 7 66203554 66203554 deletion of <=200bp A - upstream_gene_variant BRCA-EU 7 66204600 66204600 single base substitution G C intron_variant BRCA-EU 7 66204600 66204600 single base substitution G C upstream_gene_variant BRCA-EU 7 66204976 66204976 single base substitution G C splice_region_variant BRCA-EU 7 66204976 66204976 single base substitution G C upstream_gene_variant BRCA-EU 7 66205811 66205811 single base substitution G A intron_variant BRCA-EU 7 66205811 66205811 single base substitution G C intron_variant BRCA-EU 7 66205814 66205814 single base substitution C T intron_variant BRCA-EU 7 66205984 66205984 single base substitution C T intron_variant BRCA-EU 7 66206000 66206000 single base substitution C G intron_variant BRCA-EU 7 66209162 66209162 single base substitution G A intron_variant BRCA-EU 7 66210548 66210548 single base substitution G A intron_variant BRCA-EU 7 66210976 66210976 single base substitution A C intron_variant BRCA-EU 7 66211442 66211442 deletion of <=200bp T - intron_variant BRCA-EU 7 66214017 66214017 single base substitution C A intron_variant BRCA-EU 7 66216034 66216034 single base substitution G C intron_variant BRCA-EU 7 66216034 66216034 single base substitution G C upstream_gene_variant BRCA-EU 7 66216324 66216324 single base substitution C T intron_variant BRCA-EU 7 66216324 66216324 single base substitution C T upstream_gene_variant BRCA-EU 7 66216565 66216565 single base substitution G A intron_variant BRCA-EU 7 66216565 66216565 single base substitution G A upstream_gene_variant BRCA-EU 7 66217563 66217563 single base substitution T C intron_variant BRCA-EU 7 66217563 66217563 single base substitution T C upstream_gene_variant BRCA-EU 7 66217992 66217992 single base substitution G C intron_variant BRCA-EU 7 66217992 66217992 single base substitution G C upstream_gene_variant BRCA-EU 7 66218459 66218459 single base substitution A T intron_variant BRCA-EU 7 66218459 66218459 single base substitution A T upstream_gene_variant BRCA-EU 7 66218994 66218994 single base substitution T A intron_variant BRCA-EU 7 66218994 66218994 single base substitution T A upstream_gene_variant BRCA-EU 7 66219853 66219853 single base substitution G A intron_variant BRCA-EU 7 66219853 66219853 single base substitution G A upstream_gene_variant BRCA-EU 7 66220979 66220979 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 7 66220979 66220979 single base substitution C G intron_variant BRCA-EU 7 66221615 66221615 single base substitution T C intron_variant BRCA-EU 7 66222851 66222851 single base substitution A G intron_variant BRCA-EU 7 66224850 66224850 single base substitution C G intron_variant BRCA-EU 7 66226465 66226465 single base substitution C T intron_variant BRCA-EU 7 66226807 66226807 single base substitution G T intron_variant BRCA-EU 7 66227563 66227563 single base substitution G C intron_variant BRCA-EU 7 66227751 66227751 single base substitution G A intron_variant BRCA-EU 7 66231578 66231578 single base substitution C T intron_variant BRCA-EU 7 66232404 66232404 single base substitution G A intron_variant BRCA-EU 7 66232404 66232404 single base substitution G A upstream_gene_variant BRCA-EU 7 66234224 66234224 single base substitution C G intron_variant BRCA-EU 7 66234224 66234224 single base substitution C G upstream_gene_variant BRCA-EU 7 66235605 66235605 single base substitution G C intron_variant BRCA-EU 7 66235605 66235605 single base substitution G C upstream_gene_variant BRCA-EU 7 66237658 66237658 single base substitution G A downstream_gene_variant BRCA-EU 7 66237658 66237658 single base substitution G A intron_variant BRCA-EU 7 66238024 66238024 single base substitution G C downstream_gene_variant BRCA-EU 7 66238024 66238024 single base substitution G C intron_variant BRCA-EU 7 66240825 66240825 single base substitution G T downstream_gene_variant BRCA-EU 7 66240825 66240825 single base substitution G T intron_variant BRCA-EU 7 66241029 66241029 single base substitution G T downstream_gene_variant BRCA-EU 7 66241029 66241029 single base substitution G T intron_variant BRCA-EU 7 66241246 66241246 single base substitution G C downstream_gene_variant BRCA-EU 7 66241246 66241246 single base substitution G C intron_variant BRCA-EU 7 66241513 66241513 single base substitution C G downstream_gene_variant BRCA-EU 7 66241513 66241513 single base substitution C G intron_variant BRCA-EU 7 66242677 66242677 single base substitution G A intron_variant BRCA-EU 7 66243023 66243023 single base substitution A C intron_variant BRCA-EU 7 66244296 66244296 single base substitution G C intron_variant BRCA-EU 7 66244824 66244824 single base substitution T C intron_variant BRCA-EU 7 66245143 66245143 single base substitution G C intron_variant BRCA-EU 7 66245610 66245610 single base substitution C G intron_variant BRCA-EU 7 66245684 66245684 single base substitution G C intron_variant BRCA-EU 7 66246357 66246357 single base substitution T A intron_variant BRCA-EU 7 66246496 66246496 deletion of <=200bp C - intron_variant BRCA-EU 7 66246704 66246704 single base substitution A G intron_variant BRCA-EU 7 66247646 66247646 insertion of <=200bp - A intron_variant BRCA-EU 7 66248108 66248112 deletion of <=200bp TACTT - intron_variant BRCA-EU 7 66248121 66248121 single base substitution T C intron_variant BRCA-EU 7 66248490 66248490 single base substitution G T intron_variant BRCA-EU 7 66248724 66248724 single base substitution A G exon_variant BRCA-EU 7 66248724 66248724 single base substitution A G intron_variant BRCA-EU 7 66248724 66248724 single base substitution A G missense_variant R137G 409A>G BRCA-EU 7 66248724 66248724 single base substitution A G missense_variant R150G 448A>G BRCA-EU 7 66248724 66248724 single base substitution A G missense_variant R151G 451A>G BRCA-EU 7 66249253 66249253 single base substitution G C intron_variant BRCA-EU 7 66250016 66250016 single base substitution A G intron_variant BRCA-EU 7 66250227 66250227 single base substitution G C intron_variant BRCA-EU 7 66251343 66251343 single base substitution G C intron_variant BRCA-EU 7 66252455 66252455 single base substitution C T intron_variant BRCA-EU 7 66254752 66254760 deletion of <=200bp GCACATAGT - intron_variant BRCA-EU 7 66254968 66254968 single base substitution C A intron_variant BRCA-EU 7 66254983 66254983 single base substitution A G intron_variant BRCA-EU 7 66255304 66255307 deletion of <=200bp CCTT - intron_variant BRCA-EU 7 66255524 66255524 single base substitution G A intron_variant BRCA-EU 7 66256563 66256563 single base substitution G C intron_variant BRCA-EU 7 66256920 66256920 single base substitution G A intron_variant BRCA-EU 7 66257109 66257109 single base substitution A G intron_variant BRCA-EU 7 66257424 66257424 single base substitution G C intron_variant BRCA-EU 7 66257424 66257424 single base substitution G C upstream_gene_variant BRCA-EU 7 66257835 66257835 single base substitution T C intron_variant BRCA-EU 7 66257835 66257835 single base substitution T C upstream_gene_variant BRCA-EU 7 66259739 66259739 single base substitution G A intron_variant BRCA-EU 7 66259739 66259739 single base substitution G A upstream_gene_variant BRCA-EU 7 66261226 66261226 single base substitution A T intron_variant BRCA-EU 7 66261226 66261226 single base substitution A T upstream_gene_variant BRCA-EU 7 66263137 66263137 single base substitution C T intron_variant BRCA-EU 7 66263342 66263342 single base substitution T C intron_variant BRCA-EU 7 66264113 66264113 single base substitution A T intron_variant BRCA-EU 7 66264825 66264825 single base substitution G A intron_variant BRCA-EU 7 66265196 66265196 single base substitution G C intron_variant BRCA-EU 7 66266068 66266068 single base substitution G A intron_variant BRCA-EU 7 66266574 66266574 single base substitution C G intron_variant BRCA-EU 7 66267859 66267859 single base substitution G T intron_variant BRCA-EU 7 66267882 66267882 single base substitution T C intron_variant BRCA-EU 7 66268847 66268847 single base substitution G C intron_variant BRCA-EU 7 66269898 66269898 single base substitution G C intron_variant BRCA-EU 7 66270205 66270205 single base substitution A G 3_prime_UTR_variant BRCA-EU 7 66270205 66270205 single base substitution A G exon_variant BRCA-EU 7 66270205 66270205 single base substitution A G missense_variant N300S 899A>G BRCA-EU 7 66270205 66270205 single base substitution A G missense_variant N313S 938A>G BRCA-EU 7 66270205 66270205 single base substitution A G missense_variant N314S 941A>G BRCA-EU 7 66272293 66272293 single base substitution G A intron_variant BRCA-EU 7 66275642 66275642 single base substitution G A 3_prime_UTR_variant BRCA-EU 7 66275642 66275642 single base substitution G A downstream_gene_variant BRCA-EU 7 66275642 66275642 single base substitution G A exon_variant BRCA-EU 7 66275959 66275959 single base substitution G A 3_prime_UTR_variant BRCA-EU 7 66275959 66275959 single base substitution G A downstream_gene_variant BRCA-EU 7 66275959 66275959 single base substitution G A exon_variant BRCA-EU 7 66277445 66277445 single base substitution C G downstream_gene_variant BRCA-EU 7 66277565 66277565 single base substitution G C downstream_gene_variant BRCA-EU 7 66278209 66278209 single base substitution C A downstream_gene_variant BRCA-EU 7 66279488 66279488 single base substitution T C downstream_gene_variant BRCA-EU 7 66281182 66281182 single base substitution G C downstream_gene_variant BRCA-FR 7 66158844 66158844 single base substitution G A intron_variant BRCA-FR 7 66164443 66164443 single base substitution C T intron_variant BRCA-FR 7 66165010 66165010 single base substitution C T intron_variant BRCA-FR 7 66187999 66187999 single base substitution A C intron_variant BRCA-FR 7 66198100 66198100 single base substitution C G intron_variant BRCA-FR 7 66203941 66203941 single base substitution T A intron_variant BRCA-FR 7 66203941 66203941 single base substitution T A upstream_gene_variant BRCA-FR 7 66204976 66204976 single base substitution G C splice_region_variant BRCA-FR 7 66204976 66204976 single base substitution G C upstream_gene_variant BRCA-FR 7 66205814 66205814 single base substitution C T intron_variant BRCA-FR 7 66209162 66209162 single base substitution G A intron_variant BRCA-FR 7 66212022 66212022 single base substitution C T intron_variant BRCA-FR 7 66221615 66221615 single base substitution T C intron_variant BRCA-FR 7 66225782 66225782 single base substitution G C intron_variant BRCA-FR 7 66227563 66227563 single base substitution G C intron_variant BRCA-FR 7 66238024 66238024 single base substitution G C downstream_gene_variant BRCA-FR 7 66238024 66238024 single base substitution G C intron_variant BRCA-FR 7 66239637 66239637 single base substitution C T downstream_gene_variant BRCA-FR 7 66239637 66239637 single base substitution C T intron_variant BRCA-FR 7 66247592 66247592 single base substitution G T intron_variant BRCA-FR 7 66247593 66247593 single base substitution G T intron_variant BRCA-FR 7 66250638 66250638 single base substitution G A intron_variant BRCA-FR 7 66257109 66257109 single base substitution A G intron_variant BRCA-FR 7 66259991 66259991 single base substitution G A intron_variant BRCA-FR 7 66259991 66259991 single base substitution G A upstream_gene_variant BRCA-FR 7 66263342 66263342 single base substitution T C intron_variant BRCA-FR 7 66264500 66264500 single base substitution G A intron_variant BRCA-FR 7 66266068 66266068 single base substitution G A intron_variant BRCA-UK 7 66167690 66167690 single base substitution C T intron_variant BRCA-UK 7 66174928 66174928 single base substitution G A intron_variant BRCA-UK 7 66190649 66190649 single base substitution G A intron_variant BRCA-UK 7 66200871 66200871 single base substitution A T intron_variant BRCA-UK 7 66200871 66200871 single base substitution A T upstream_gene_variant BRCA-UK 7 66260584 66260584 single base substitution C T splice_region_variant BRCA-UK 7 66260584 66260584 single base substitution C T upstream_gene_variant BRCA-US 7 66236971 66236974 deletion of <=200bp CCTG - exon_variant BRCA-US 7 66236971 66236974 deletion of <=200bp CCTG - frameshift_variant PA29 BRCA-US 7 66236971 66236974 deletion of <=200bp CCTG - frameshift_variant PA42 BRCA-US 7 66236971 66236974 deletion of <=200bp CCTG - frameshift_variant PA43 BRCA-US 7 66240224 66240224 single base substitution G A downstream_gene_variant BRCA-US 7 66240224 66240224 single base substitution G A exon_variant BRCA-US 7 66240224 66240224 single base substitution G A missense_variant E64K 190G>A BRCA-US 7 66240224 66240224 single base substitution G A missense_variant E77K 229G>A BRCA-US 7 66240224 66240224 single base substitution G A missense_variant E78K 232G>A BRCA-US 7 66274155 66274155 single base substitution G A 3_prime_UTR_variant BRCA-US 7 66274155 66274155 single base substitution G A downstream_gene_variant BRCA-US 7 66274155 66274155 single base substitution G A exon_variant BRCA-US 7 66274155 66274155 single base substitution G A missense_variant E454K 1360G>A BRCA-US 7 66274155 66274155 single base substitution G A missense_variant E467K 1399G>A BRCA-US 7 66274155 66274155 single base substitution G A missense_variant E468K 1402G>A BTCA-JP 7 66147101 66147101 single base substitution G A upstream_gene_variant BTCA-JP 7 66147110 66147110 single base substitution C A upstream_gene_variant BTCA-JP 7 66147178 66147178 single base substitution C T 5_prime_UTR_variant BTCA-JP 7 66264347 66264347 single base substitution C T 3_prime_UTR_variant BTCA-JP 7 66264347 66264347 single base substitution C T exon_variant BTCA-JP 7 66264347 66264347 single base substitution C T missense_variant P256S 766C>T BTCA-JP 7 66264347 66264347 single base substitution C T missense_variant P269S 805C>T BTCA-JP 7 66264347 66264347 single base substitution C T missense_variant P270S 808C>T BTCA-JP 7 66273906 66273906 single base substitution G A 3_prime_UTR_variant BTCA-JP 7 66273906 66273906 single base substitution G A downstream_gene_variant BTCA-JP 7 66273906 66273906 single base substitution G A exon_variant BTCA-JP 7 66273906 66273906 single base substitution G A missense_variant A371T 1111G>A BTCA-JP 7 66273906 66273906 single base substitution G A missense_variant A384T 1150G>A BTCA-JP 7 66273906 66273906 single base substitution G A missense_variant A385T 1153G>A CESC-US 7 66274797 66274797 single base substitution G C 3_prime_UTR_variant CESC-US 7 66274797 66274797 single base substitution G C downstream_gene_variant CESC-US 7 66274797 66274797 single base substitution G C exon_variant CLLE-ES 7 66191487 66191487 single base substitution A G intron_variant CLLE-ES 7 66201933 66201933 single base substitution G A intron_variant CLLE-ES 7 66201933 66201933 single base substitution G A upstream_gene_variant CLLE-ES 7 66208226 66208226 single base substitution C G intron_variant CLLE-ES 7 66240054 66240054 single base substitution C T downstream_gene_variant CLLE-ES 7 66240054 66240054 single base substitution C T intron_variant COAD-US 7 66240321 66240321 single base substitution G A downstream_gene_variant COAD-US 7 66240321 66240321 single base substitution G A exon_variant COAD-US 7 66240321 66240321 single base substitution G A missense_variant R109H 326G>A COAD-US 7 66240321 66240321 single base substitution G A missense_variant R110H 329G>A COAD-US 7 66240321 66240321 single base substitution G A missense_variant R96H 287G>A COCA-CN 7 66147523 66147523 single base substitution T G intron_variant COCA-CN 7 66152731 66152731 single base substitution C G intron_variant COCA-CN 7 66157065 66157065 single base substitution C T intron_variant COCA-CN 7 66158499 66158499 single base substitution C G intron_variant COCA-CN 7 66169729 66169729 single base substitution C T intron_variant COCA-CN 7 66170434 66170434 single base substitution G C intron_variant COCA-CN 7 66170436 66170436 single base substitution G A intron_variant COCA-CN 7 66185742 66185742 single base substitution C T intron_variant COCA-CN 7 66188718 66188718 single base substitution A C intron_variant COCA-CN 7 66193723 66193723 single base substitution C T intron_variant COCA-CN 7 66193796 66193796 single base substitution T C intron_variant COCA-CN 7 66193806 66193806 single base substitution T C intron_variant COCA-CN 7 66194249 66194249 single base substitution A T intron_variant COCA-CN 7 66194385 66194385 single base substitution C A intron_variant COCA-CN 7 66194419 66194419 single base substitution G C intron_variant COCA-CN 7 66194422 66194422 single base substitution T C intron_variant COCA-CN 7 66194428 66194428 single base substitution C T intron_variant COCA-CN 7 66202086 66202086 single base substitution A C intron_variant COCA-CN 7 66202086 66202086 single base substitution A C upstream_gene_variant COCA-CN 7 66204593 66204593 single base substitution A G intron_variant COCA-CN 7 66204593 66204593 single base substitution A G upstream_gene_variant COCA-CN 7 66207897 66207897 single base substitution C T intron_variant COCA-CN 7 66218847 66218847 single base substitution T C intron_variant COCA-CN 7 66218847 66218847 single base substitution T C upstream_gene_variant COCA-CN 7 66229379 66229379 single base substitution G T intron_variant COCA-CN 7 66236814 66236814 single base substitution G T intron_variant COCA-CN 7 66236814 66236814 single base substitution G T upstream_gene_variant COCA-CN 7 66237168 66237168 single base substitution A C downstream_gene_variant COCA-CN 7 66237168 66237168 single base substitution A C intron_variant COCA-CN 7 66237209 66237209 single base substitution C T downstream_gene_variant COCA-CN 7 66237209 66237209 single base substitution C T intron_variant COCA-CN 7 66237912 66237912 single base substitution T A downstream_gene_variant COCA-CN 7 66237912 66237912 single base substitution T A intron_variant COCA-CN 7 66240402 66240402 single base substitution T C downstream_gene_variant COCA-CN 7 66240402 66240402 single base substitution T C intron_variant COCA-CN 7 66254646 66254646 single base substitution A G intron_variant COCA-CN 7 66266898 66266898 single base substitution G T intron_variant COCA-CN 7 66273816 66273816 single base substitution C T downstream_gene_variant COCA-CN 7 66273816 66273816 single base substitution C T intron_variant COCA-CN 7 66280803 66280803 single base substitution A G downstream_gene_variant EOPC-DE 7 66165310 66165310 single base substitution T C intron_variant EOPC-DE 7 66172716 66172716 single base substitution G T intron_variant EOPC-DE 7 66200721 66200721 single base substitution C T intron_variant EOPC-DE 7 66200721 66200721 single base substitution C T upstream_gene_variant ESAD-UK 7 66144479 66144498 deletion of <=200bp AGAGGTGGGGTTTCACCACC - upstream_gene_variant ESAD-UK 7 66148082 66148082 single base substitution T G intron_variant ESAD-UK 7 66149789 66149789 single base substitution T C intron_variant ESAD-UK 7 66149811 66149811 single base substitution C T intron_variant ESAD-UK 7 66154058 66154058 single base substitution T G intron_variant ESAD-UK 7 66154860 66154860 single base substitution C G intron_variant ESAD-UK 7 66155214 66155214 single base substitution A G intron_variant ESAD-UK 7 66155381 66155381 single base substitution C T intron_variant ESAD-UK 7 66155906 66155906 single base substitution A G intron_variant ESAD-UK 7 66158585 66158585 single base substitution G T intron_variant ESAD-UK 7 66161062 66161062 single base substitution A T intron_variant ESAD-UK 7 66162332 66162332 single base substitution C G intron_variant ESAD-UK 7 66163271 66163271 single base substitution C G intron_variant ESAD-UK 7 66164944 66164944 single base substitution C A intron_variant ESAD-UK 7 66165695 66165695 single base substitution G A intron_variant ESAD-UK 7 66165990 66165990 single base substitution C T intron_variant ESAD-UK 7 66166119 66166119 single base substitution G A intron_variant ESAD-UK 7 66171950 66171950 single base substitution T G intron_variant ESAD-UK 7 66173519 66173519 single base substitution G A intron_variant ESAD-UK 7 66174649 66174649 single base substitution C T intron_variant ESAD-UK 7 66178761 66178761 single base substitution G A intron_variant ESAD-UK 7 66181029 66181029 single base substitution C T intron_variant ESAD-UK 7 66182386 66182386 deletion of <=200bp A - intron_variant ESAD-UK 7 66182677 66182677 single base substitution G A intron_variant ESAD-UK 7 66183850 66183850 single base substitution A C intron_variant ESAD-UK 7 66185186 66185186 single base substitution T A intron_variant ESAD-UK 7 66188941 66188941 single base substitution T C intron_variant ESAD-UK 7 66189359 66189359 single base substitution T A intron_variant ESAD-UK 7 66189826 66189826 single base substitution T A intron_variant ESAD-UK 7 66190875 66190875 single base substitution A C intron_variant ESAD-UK 7 66191365 66191365 single base substitution T A intron_variant ESAD-UK 7 66192294 66192294 single base substitution T A intron_variant ESAD-UK 7 66192295 66192295 single base substitution G T intron_variant ESAD-UK 7 66194188 66194188 single base substitution C T intron_variant ESAD-UK 7 66195132 66195132 single base substitution G A intron_variant ESAD-UK 7 66196153 66196153 single base substitution G A intron_variant ESAD-UK 7 66196965 66196965 single base substitution C T intron_variant ESAD-UK 7 66198760 66198760 single base substitution C T intron_variant ESAD-UK 7 66198818 66198818 single base substitution C T intron_variant ESAD-UK 7 66200157 66200157 single base substitution C T intron_variant ESAD-UK 7 66201699 66201699 single base substitution T G intron_variant ESAD-UK 7 66201699 66201699 single base substitution T G upstream_gene_variant ESAD-UK 7 66211201 66211201 single base substitution T C intron_variant ESAD-UK 7 66211242 66211242 single base substitution C T intron_variant ESAD-UK 7 66212070 66212070 single base substitution C T intron_variant ESAD-UK 7 66212559 66212559 single base substitution T A intron_variant ESAD-UK 7 66214678 66214678 single base substitution G T intron_variant ESAD-UK 7 66220343 66220343 single base substitution T G intron_variant ESAD-UK 7 66220343 66220343 single base substitution T G upstream_gene_variant ESAD-UK 7 66222604 66222604 single base substitution T G intron_variant ESAD-UK 7 66222950 66222950 single base substitution G A intron_variant ESAD-UK 7 66224938 66224938 single base substitution C T intron_variant ESAD-UK 7 66226111 66226111 single base substitution A C intron_variant ESAD-UK 7 66226574 66226574 single base substitution G A intron_variant ESAD-UK 7 66226859 66226859 single base substitution G A intron_variant ESAD-UK 7 66226976 66226976 single base substitution G A intron_variant ESAD-UK 7 66227376 66227376 single base substitution G A intron_variant ESAD-UK 7 66232593 66232593 single base substitution G A intron_variant ESAD-UK 7 66232593 66232593 single base substitution G A upstream_gene_variant ESAD-UK 7 66235816 66235816 single base substitution G A intron_variant ESAD-UK 7 66235816 66235816 single base substitution G A upstream_gene_variant ESAD-UK 7 66239163 66239163 deletion of <=200bp A - downstream_gene_variant ESAD-UK 7 66239163 66239163 deletion of <=200bp A - intron_variant ESAD-UK 7 66240054 66240054 single base substitution C T downstream_gene_variant ESAD-UK 7 66240054 66240054 single base substitution C T intron_variant ESAD-UK 7 66240663 66240663 insertion of <=200bp - T downstream_gene_variant ESAD-UK 7 66240663 66240663 insertion of <=200bp - T intron_variant ESAD-UK 7 66240723 66240723 single base substitution A T downstream_gene_variant ESAD-UK 7 66240723 66240723 single base substitution A T intron_variant ESAD-UK 7 66244359 66244359 single base substitution C T intron_variant ESAD-UK 7 66244496 66244496 single base substitution A C intron_variant ESAD-UK 7 66250524 66250524 single base substitution C A intron_variant ESAD-UK 7 66259233 66259233 deletion of <=200bp A - intron_variant ESAD-UK 7 66259233 66259233 deletion of <=200bp A - upstream_gene_variant ESAD-UK 7 66259723 66259723 single base substitution G C intron_variant ESAD-UK 7 66259723 66259723 single base substitution G C upstream_gene_variant ESAD-UK 7 66259819 66259819 single base substitution G A intron_variant ESAD-UK 7 66259819 66259819 single base substitution G A upstream_gene_variant ESAD-UK 7 66259832 66259832 single base substitution G A intron_variant ESAD-UK 7 66259832 66259832 single base substitution G A upstream_gene_variant ESAD-UK 7 66259870 66259870 single base substitution G A intron_variant ESAD-UK 7 66259870 66259870 single base substitution G A upstream_gene_variant ESAD-UK 7 66261185 66261185 single base substitution C A intron_variant ESAD-UK 7 66261185 66261185 single base substitution C A upstream_gene_variant ESAD-UK 7 66262920 66262920 single base substitution G A intron_variant ESAD-UK 7 66263274 66263274 single base substitution C T intron_variant ESAD-UK 7 66264005 66264005 single base substitution A G intron_variant ESAD-UK 7 66265522 66265522 single base substitution G C intron_variant ESAD-UK 7 66267636 66267636 single base substitution C A intron_variant ESAD-UK 7 66267683 66267683 single base substitution C G intron_variant ESAD-UK 7 66268136 66268136 single base substitution G A intron_variant ESAD-UK 7 66269107 66269107 single base substitution G T intron_variant ESAD-UK 7 66269170 66269170 single base substitution A T intron_variant ESAD-UK 7 66269172 66269172 deletion of <=200bp G - intron_variant ESAD-UK 7 66269320 66269321 deletion of <=200bp GA - intron_variant ESAD-UK 7 66269572 66269572 single base substitution A G intron_variant ESAD-UK 7 66269637 66269637 single base substitution G A intron_variant ESAD-UK 7 66272255 66272255 single base substitution G T intron_variant ESAD-UK 7 66277914 66277914 single base substitution C T downstream_gene_variant ESAD-UK 7 66278140 66278140 single base substitution G A downstream_gene_variant ESAD-UK 7 66278141 66278141 single base substitution C T downstream_gene_variant ESCA-CN 7 66240349 66240349 single base substitution C T downstream_gene_variant ESCA-CN 7 66240349 66240349 single base substitution C T exon_variant ESCA-CN 7 66240349 66240349 single base substitution C T synonymous_variant F105F 315C>T ESCA-CN 7 66240349 66240349 single base substitution C T synonymous_variant F118F 354C>T ESCA-CN 7 66240349 66240349 single base substitution C T synonymous_variant F119F 357C>T GACA-CN 7 66273906 66273906 single base substitution G A 3_prime_UTR_variant GACA-CN 7 66273906 66273906 single base substitution G A downstream_gene_variant GACA-CN 7 66273906 66273906 single base substitution G A exon_variant GACA-CN 7 66273906 66273906 single base substitution G A missense_variant A371T 1111G>A GACA-CN 7 66273906 66273906 single base substitution G A missense_variant A384T 1150G>A GACA-CN 7 66273906 66273906 single base substitution G A missense_variant A385T 1153G>A GBM-US 7 66240254 66240254 single base substitution A T downstream_gene_variant GBM-US 7 66240254 66240254 single base substitution A T exon_variant GBM-US 7 66240254 66240254 single base substitution A T missense_variant S74C 220A>T GBM-US 7 66240254 66240254 single base substitution A T missense_variant S87C 259A>T GBM-US 7 66240254 66240254 single base substitution A T missense_variant S88C 262A>T GBM-US 7 66240279 66240279 single base substitution C T downstream_gene_variant GBM-US 7 66240279 66240279 single base substitution C T exon_variant GBM-US 7 66240279 66240279 single base substitution C T missense_variant T82I 245C>T GBM-US 7 66240279 66240279 single base substitution C T missense_variant T95I 284C>T GBM-US 7 66240279 66240279 single base substitution C T missense_variant T96I 287C>T GBM-US 7 66240358 66240358 single base substitution T C downstream_gene_variant GBM-US 7 66240358 66240358 single base substitution T C exon_variant GBM-US 7 66240358 66240358 single base substitution T C synonymous_variant S108S 324T>C GBM-US 7 66240358 66240358 single base substitution T C synonymous_variant S121S 363T>C GBM-US 7 66240358 66240358 single base substitution T C synonymous_variant S122S 366T>C GBM-US 7 66262470 66262470 single base substitution T C 3_prime_UTR_variant GBM-US 7 66262470 66262470 single base substitution T C exon_variant GBM-US 7 66262470 66262470 single base substitution T C synonymous_variant D235D 705T>C GBM-US 7 66262470 66262470 single base substitution T C synonymous_variant D248D 744T>C GBM-US 7 66262470 66262470 single base substitution T C synonymous_variant D249D 747T>C GBM-US 7 66270262 66270262 single base substitution T C 3_prime_UTR_variant GBM-US 7 66270262 66270262 single base substitution T C exon_variant GBM-US 7 66270262 66270262 single base substitution T C missense_variant L319P 956T>C GBM-US 7 66270262 66270262 single base substitution T C missense_variant L332P 995T>C GBM-US 7 66270262 66270262 single base substitution T C missense_variant L333P 998T>C KIRC-US 7 66248812 66248812 single base substitution G C exon_variant KIRC-US 7 66248812 66248812 single base substitution G C intron_variant KIRC-US 7 66248812 66248812 single base substitution G C missense_variant G166A 497G>C KIRC-US 7 66248812 66248812 single base substitution G C missense_variant G179A 536G>C KIRC-US 7 66248812 66248812 single base substitution G C missense_variant G180A 539G>C KIRC-US 7 66260561 66260561 single base substitution A T 3_prime_UTR_variant KIRC-US 7 66260561 66260561 single base substitution A T exon_variant KIRC-US 7 66260561 66260561 single base substitution A T missense_variant M193L 577A>T KIRC-US 7 66260561 66260561 single base substitution A T missense_variant M206L 616A>T KIRC-US 7 66260561 66260561 single base substitution A T missense_variant M207L 619A>T KIRC-US 7 66260561 66260561 single base substitution A T upstream_gene_variant LAML-KR 7 66151290 66151290 single base substitution T G intron_variant LAML-KR 7 66178131 66178131 single base substitution C T intron_variant LAML-KR 7 66178147 66178147 single base substitution G T intron_variant LAML-KR 7 66195563 66195563 single base substitution G T intron_variant LAML-KR 7 66199606 66199606 single base substitution A T intron_variant LAML-KR 7 66202060 66202060 single base substitution T A intron_variant LAML-KR 7 66202060 66202060 single base substitution T A upstream_gene_variant LAML-KR 7 66210775 66210775 single base substitution T G intron_variant LAML-KR 7 66248864 66248864 single base substitution T C intron_variant LAML-KR 7 66252371 66252371 single base substitution C G intron_variant LICA-CN 7 66221054 66221054 single base substitution A T intron_variant LICA-CN 7 66221054 66221054 single base substitution A T synonymous_variant S4S 12A>T LICA-CN 7 66221054 66221054 single base substitution A T synonymous_variant S5S 15A>T LICA-CN 7 66260510 66260510 single base substitution G C exon_variant LICA-CN 7 66260510 66260510 single base substitution G C missense_variant E176Q 526G>C LICA-CN 7 66260510 66260510 single base substitution G C missense_variant E189Q 565G>C LICA-CN 7 66260510 66260510 single base substitution G C missense_variant E190Q 568G>C LICA-CN 7 66260510 66260510 single base substitution G C upstream_gene_variant LICA-CN 7 66262408 66262408 single base substitution A T 3_prime_UTR_variant LICA-CN 7 66262408 66262408 single base substitution A T exon_variant LICA-CN 7 66262408 66262408 single base substitution A T missense_variant I215F 643A>T LICA-CN 7 66262408 66262408 single base substitution A T missense_variant I228F 682A>T LICA-CN 7 66262408 66262408 single base substitution A T missense_variant I229F 685A>T LICA-FR 7 66150141 66150141 insertion of <=200bp - T intron_variant LICA-FR 7 66158149 66158149 single base substitution C T intron_variant LICA-FR 7 66170431 66170431 insertion of <=200bp - AGACAGAGAG intron_variant LICA-FR 7 66197458 66197458 single base substitution A G intron_variant LICA-FR 7 66202054 66202054 single base substitution A T intron_variant LICA-FR 7 66202054 66202054 single base substitution A T upstream_gene_variant LICA-FR 7 66203719 66203719 insertion of <=200bp - AAA intron_variant LICA-FR 7 66203719 66203719 insertion of <=200bp - AAA upstream_gene_variant LICA-FR 7 66210747 66210747 single base substitution C G intron_variant LICA-FR 7 66210889 66210889 single base substitution G T intron_variant LICA-FR 7 66219502 66219502 single base substitution G A intron_variant LICA-FR 7 66219502 66219502 single base substitution G A upstream_gene_variant LICA-FR 7 66225821 66225821 single base substitution G T intron_variant LICA-FR 7 66229008 66229008 single base substitution A G intron_variant LICA-FR 7 66244658 66244658 insertion of <=200bp - A intron_variant LICA-FR 7 66244970 66244970 insertion of <=200bp - TA intron_variant LICA-FR 7 66250463 66250463 single base substitution A G intron_variant LICA-FR 7 66251690 66251690 single base substitution G T intron_variant LICA-FR 7 66260642 66260642 single base substitution G A intron_variant LICA-FR 7 66260642 66260642 single base substitution G A upstream_gene_variant LIHC-US 7 66270375 66270375 single base substitution A T 3_prime_UTR_variant LIHC-US 7 66270375 66270375 single base substitution A T exon_variant LIHC-US 7 66270375 66270375 single base substitution A T missense_variant T357S 1069A>T LIHC-US 7 66270375 66270375 single base substitution A T missense_variant T370S 1108A>T LIHC-US 7 66270375 66270375 single base substitution A T missense_variant T371S 1111A>T LINC-JP 7 66150657 66150657 single base substitution A T intron_variant LINC-JP 7 66165147 66165147 single base substitution A T intron_variant LINC-JP 7 66165486 66165486 deletion of <=200bp T - intron_variant LINC-JP 7 66170417 66170417 single base substitution C G intron_variant LINC-JP 7 66170476 66170476 single base substitution A G intron_variant LINC-JP 7 66201291 66201291 single base substitution G A intron_variant LINC-JP 7 66201291 66201291 single base substitution G A upstream_gene_variant LINC-JP 7 66208305 66208305 single base substitution G A intron_variant LINC-JP 7 66219179 66219179 single base substitution C T intron_variant LINC-JP 7 66219179 66219179 single base substitution C T upstream_gene_variant LINC-JP 7 66232294 66232294 deletion of <=200bp T - intron_variant LINC-JP 7 66232294 66232294 deletion of <=200bp T - upstream_gene_variant LINC-JP 7 66241655 66241655 single base substitution C T downstream_gene_variant LINC-JP 7 66241655 66241655 single base substitution C T intron_variant LINC-JP 7 66260755 66260755 single base substitution C T intron_variant LINC-JP 7 66260755 66260755 single base substitution C T upstream_gene_variant LINC-JP 7 66262319 66262319 single base substitution A G intron_variant LINC-JP 7 66262319 66262319 single base substitution A G upstream_gene_variant LINC-JP 7 66265017 66265017 single base substitution C A intron_variant LIRI-JP 7 66149262 66149262 single base substitution C A intron_variant LIRI-JP 7 66150968 66150968 single base substitution A C intron_variant LIRI-JP 7 66154682 66154682 single base substitution C A intron_variant LIRI-JP 7 66157136 66157136 single base substitution C T intron_variant LIRI-JP 7 66157682 66157682 single base substitution C A intron_variant LIRI-JP 7 66159528 66159528 single base substitution G T intron_variant LIRI-JP 7 66161209 66161209 single base substitution T C intron_variant LIRI-JP 7 66163162 66163162 single base substitution G A intron_variant LIRI-JP 7 66165283 66165283 deletion of <=200bp A - intron_variant LIRI-JP 7 66168087 66168087 single base substitution A C intron_variant LIRI-JP 7 66173005 66173005 single base substitution A G intron_variant LIRI-JP 7 66174210 66174210 single base substitution G T intron_variant LIRI-JP 7 66174553 66174553 single base substitution A T intron_variant LIRI-JP 7 66178607 66178607 single base substitution T A intron_variant LIRI-JP 7 66179344 66179344 single base substitution T G intron_variant LIRI-JP 7 66185333 66185333 single base substitution C A intron_variant LIRI-JP 7 66189772 66189772 single base substitution A T intron_variant LIRI-JP 7 66191616 66191616 single base substitution A G intron_variant LIRI-JP 7 66192047 66192047 single base substitution G C intron_variant LIRI-JP 7 66197409 66197409 single base substitution A T intron_variant LIRI-JP 7 66201809 66201809 single base substitution C G intron_variant LIRI-JP 7 66201809 66201809 single base substitution C G upstream_gene_variant LIRI-JP 7 66201831 66201831 single base substitution G C intron_variant LIRI-JP 7 66201831 66201831 single base substitution G C upstream_gene_variant LIRI-JP 7 66202187 66202187 single base substitution T C intron_variant LIRI-JP 7 66202187 66202187 single base substitution T C upstream_gene_variant LIRI-JP 7 66204748 66204748 single base substitution T C intron_variant LIRI-JP 7 66204748 66204748 single base substitution T C upstream_gene_variant LIRI-JP 7 66206648 66206648 single base substitution C T intron_variant LIRI-JP 7 66208616 66208616 single base substitution A G intron_variant LIRI-JP 7 66208733 66208733 single base substitution C T intron_variant LIRI-JP 7 66209188 66209188 single base substitution G T intron_variant LIRI-JP 7 66211929 66211929 single base substitution C T intron_variant LIRI-JP 7 66213388 66213388 single base substitution C T intron_variant LIRI-JP 7 66213770 66213770 single base substitution A G intron_variant LIRI-JP 7 66214820 66214820 single base substitution G A intron_variant LIRI-JP 7 66215012 66215012 single base substitution A T intron_variant LIRI-JP 7 66216586 66216586 single base substitution G A intron_variant LIRI-JP 7 66216586 66216586 single base substitution G A upstream_gene_variant LIRI-JP 7 66217330 66217330 single base substitution A C intron_variant LIRI-JP 7 66217330 66217330 single base substitution A C upstream_gene_variant LIRI-JP 7 66217900 66217900 single base substitution T C intron_variant LIRI-JP 7 66217900 66217900 single base substitution T C upstream_gene_variant LIRI-JP 7 66218081 66218081 single base substitution G A intron_variant LIRI-JP 7 66218081 66218081 single base substitution G A upstream_gene_variant LIRI-JP 7 66218398 66218398 single base substitution G A intron_variant LIRI-JP 7 66218398 66218398 single base substitution G A upstream_gene_variant LIRI-JP 7 66219380 66219380 single base substitution A G intron_variant LIRI-JP 7 66219380 66219380 single base substitution A G upstream_gene_variant LIRI-JP 7 66221394 66221394 single base substitution G C intron_variant LIRI-JP 7 66223891 66223891 single base substitution A G intron_variant LIRI-JP 7 66225826 66225826 single base substitution G A intron_variant LIRI-JP 7 66226528 66226528 single base substitution G C intron_variant LIRI-JP 7 66227901 66227901 single base substitution A T intron_variant LIRI-JP 7 66228903 66228903 single base substitution A G intron_variant LIRI-JP 7 66229109 66229109 single base substitution C G intron_variant LIRI-JP 7 66236456 66236456 single base substitution A G intron_variant LIRI-JP 7 66236456 66236456 single base substitution A G upstream_gene_variant LIRI-JP 7 66238230 66238230 single base substitution T C downstream_gene_variant LIRI-JP 7 66238230 66238230 single base substitution T C intron_variant LIRI-JP 7 66238870 66238870 single base substitution C G downstream_gene_variant LIRI-JP 7 66238870 66238870 single base substitution C G intron_variant LIRI-JP 7 66239725 66239725 single base substitution C T downstream_gene_variant LIRI-JP 7 66239725 66239725 single base substitution C T intron_variant LIRI-JP 7 66240989 66240989 single base substitution A G downstream_gene_variant LIRI-JP 7 66240989 66240989 single base substitution A G intron_variant LIRI-JP 7 66241375 66241375 single base substitution C G downstream_gene_variant LIRI-JP 7 66241375 66241375 single base substitution C G intron_variant LIRI-JP 7 66242923 66242923 single base substitution T G intron_variant LIRI-JP 7 66250463 66250463 single base substitution A G intron_variant LIRI-JP 7 66252517 66252517 single base substitution A G intron_variant LIRI-JP 7 66253549 66253549 single base substitution A C intron_variant LIRI-JP 7 66254586 66254586 single base substitution C T intron_variant LIRI-JP 7 66257005 66257005 single base substitution A G intron_variant LIRI-JP 7 66260283 66260283 single base substitution G A intron_variant LIRI-JP 7 66260283 66260283 single base substitution G A upstream_gene_variant LIRI-JP 7 66261310 66261313 deletion of <=200bp TGTG - intron_variant LIRI-JP 7 66261310 66261313 deletion of <=200bp TGTG - upstream_gene_variant LIRI-JP 7 66262884 66262884 single base substitution A T intron_variant LIRI-JP 7 66264641 66264641 single base substitution C A intron_variant LIRI-JP 7 66265063 66265063 single base substitution C G intron_variant LIRI-JP 7 66265130 66265130 single base substitution A G intron_variant LIRI-JP 7 66269670 66269670 single base substitution A G intron_variant LIRI-JP 7 66271038 66271041 deletion of <=200bp CTTC - intron_variant LIRI-JP 7 66273535 66273535 single base substitution A T downstream_gene_variant LIRI-JP 7 66273535 66273535 single base substitution A T intron_variant LIRI-JP 7 66273544 66273544 single base substitution A G downstream_gene_variant LIRI-JP 7 66273544 66273544 single base substitution A G intron_variant LIRI-JP 7 66275024 66275024 single base substitution T C 3_prime_UTR_variant LIRI-JP 7 66275024 66275024 single base substitution T C downstream_gene_variant LIRI-JP 7 66275024 66275024 single base substitution T C exon_variant LIRI-JP 7 66276098 66276098 single base substitution T G 3_prime_UTR_variant LIRI-JP 7 66276098 66276098 single base substitution T G downstream_gene_variant LIRI-JP 7 66276098 66276098 single base substitution T G exon_variant LIRI-JP 7 66276546 66276546 single base substitution T C downstream_gene_variant LIRI-JP 7 66279187 66279187 single base substitution T C downstream_gene_variant LUSC-KR 7 66147676 66147676 single base substitution A G intron_variant LUSC-KR 7 66153008 66153008 single base substitution G T intron_variant LUSC-KR 7 66166505 66166505 single base substitution A T intron_variant LUSC-KR 7 66168103 66168103 single base substitution G T intron_variant LUSC-KR 7 66178159 66178159 single base substitution C T intron_variant LUSC-KR 7 66186674 66186674 single base substitution G T intron_variant LUSC-KR 7 66186904 66186904 single base substitution G T intron_variant LUSC-KR 7 66194848 66194848 single base substitution C T intron_variant LUSC-KR 7 66204196 66204196 single base substitution C G intron_variant LUSC-KR 7 66204196 66204196 single base substitution C G upstream_gene_variant LUSC-KR 7 66206882 66206882 single base substitution G A intron_variant LUSC-KR 7 66216034 66216034 single base substitution G T intron_variant LUSC-KR 7 66216034 66216034 single base substitution G T upstream_gene_variant LUSC-KR 7 66217065 66217065 single base substitution G A intron_variant LUSC-KR 7 66217065 66217065 single base substitution G A upstream_gene_variant LUSC-KR 7 66220943 66220943 single base substitution G C 5_prime_UTR_variant LUSC-KR 7 66220943 66220943 single base substitution G C intron_variant LUSC-KR 7 66224490 66224490 single base substitution C T intron_variant LUSC-KR 7 66225448 66225448 single base substitution G T intron_variant LUSC-KR 7 66230968 66230968 single base substitution A T intron_variant LUSC-KR 7 66231901 66231901 single base substitution C T intron_variant LUSC-KR 7 66231901 66231901 single base substitution C T upstream_gene_variant LUSC-KR 7 66236202 66236202 single base substitution T G intron_variant LUSC-KR 7 66236202 66236202 single base substitution T G upstream_gene_variant LUSC-KR 7 66237132 66237132 single base substitution A G downstream_gene_variant LUSC-KR 7 66237132 66237132 single base substitution A G intron_variant LUSC-KR 7 66237201 66237201 single base substitution C T downstream_gene_variant LUSC-KR 7 66237201 66237201 single base substitution C T intron_variant LUSC-KR 7 66241636 66241636 single base substitution C T downstream_gene_variant LUSC-KR 7 66241636 66241636 single base substitution C T intron_variant LUSC-KR 7 66243043 66243043 single base substitution G A intron_variant LUSC-KR 7 66245297 66245297 single base substitution A G intron_variant LUSC-KR 7 66250847 66250847 single base substitution C T intron_variant LUSC-KR 7 66251681 66251681 single base substitution G A intron_variant LUSC-KR 7 66252175 66252175 single base substitution A G intron_variant LUSC-KR 7 66252389 66252389 single base substitution G T intron_variant LUSC-KR 7 66252390 66252390 single base substitution G T intron_variant LUSC-KR 7 66262309 66262309 single base substitution G A intron_variant LUSC-KR 7 66262309 66262309 single base substitution G A upstream_gene_variant LUSC-KR 7 66265826 66265826 single base substitution A T intron_variant LUSC-KR 7 66268825 66268825 single base substitution G A intron_variant LUSC-KR 7 66273172 66273172 single base substitution G A downstream_gene_variant LUSC-KR 7 66273172 66273172 single base substitution G A intron_variant LUSC-KR 7 66273556 66273556 single base substitution C T downstream_gene_variant LUSC-KR 7 66273556 66273556 single base substitution C T intron_variant LUSC-KR 7 66276390 66276390 single base substitution A T 3_prime_UTR_variant LUSC-KR 7 66276390 66276390 single base substitution A T downstream_gene_variant LUSC-KR 7 66278819 66278819 single base substitution G C downstream_gene_variant LUSC-KR 7 66281437 66281437 single base substitution G T downstream_gene_variant LUSC-US 7 66240357 66240357 single base substitution C T downstream_gene_variant LUSC-US 7 66240357 66240357 single base substitution C T exon_variant LUSC-US 7 66240357 66240357 single base substitution C T missense_variant S108F 323C>T LUSC-US 7 66240357 66240357 single base substitution C T missense_variant S121F 362C>T LUSC-US 7 66240357 66240357 single base substitution C T missense_variant S122F 365C>T LUSC-US 7 66270167 66270167 single base substitution G A 3_prime_UTR_variant LUSC-US 7 66270167 66270167 single base substitution G A exon_variant LUSC-US 7 66270167 66270167 single base substitution G A synonymous_variant K287K 861G>A LUSC-US 7 66270167 66270167 single base substitution G A synonymous_variant K300K 900G>A LUSC-US 7 66270167 66270167 single base substitution G A synonymous_variant K301K 903G>A LUSC-US 7 66273905 66273905 single base substitution C T 3_prime_UTR_variant LUSC-US 7 66273905 66273905 single base substitution C T downstream_gene_variant LUSC-US 7 66273905 66273905 single base substitution C T exon_variant LUSC-US 7 66273905 66273905 single base substitution C T synonymous_variant D370D 1110C>T LUSC-US 7 66273905 66273905 single base substitution C T synonymous_variant D383D 1149C>T LUSC-US 7 66273905 66273905 single base substitution C T synonymous_variant D384D 1152C>T MALY-DE 7 66154723 66154723 single base substitution A G intron_variant MALY-DE 7 66168716 66168716 single base substitution T C intron_variant MALY-DE 7 66172083 66172083 single base substitution T A intron_variant MALY-DE 7 66172856 66172856 single base substitution T G intron_variant MALY-DE 7 66175967 66175967 insertion of <=200bp - A intron_variant MALY-DE 7 66201370 66201370 single base substitution A G intron_variant MALY-DE 7 66201370 66201370 single base substitution A G upstream_gene_variant MALY-DE 7 66202039 66202040 deletion of <=200bp GA - intron_variant MALY-DE 7 66202039 66202040 deletion of <=200bp GA - upstream_gene_variant MALY-DE 7 66209720 66209720 single base substitution A G intron_variant MALY-DE 7 66212081 66212081 single base substitution C G intron_variant MALY-DE 7 66214351 66214351 single base substitution T C intron_variant MALY-DE 7 66215786 66215786 single base substitution T G intron_variant MALY-DE 7 66215875 66215875 single base substitution C T intron_variant MALY-DE 7 66222975 66222975 single base substitution A G intron_variant MALY-DE 7 66223329 66223329 single base substitution C T intron_variant MALY-DE 7 66247928 66247928 single base substitution T G intron_variant MALY-DE 7 66250470 66250470 single base substitution C T intron_variant MALY-DE 7 66270721 66270721 single base substitution G T intron_variant MALY-DE 7 66274771 66274771 single base substitution T A 3_prime_UTR_variant MALY-DE 7 66274771 66274771 single base substitution T A downstream_gene_variant MALY-DE 7 66274771 66274771 single base substitution T A exon_variant MALY-DE 7 66280211 66280212 deletion of <=200bp TC - downstream_gene_variant MELA-AU 7 66142161 66142178 deletion of <=200bp AATCTAATTTAAAAATTT - upstream_gene_variant MELA-AU 7 66145035 66145035 single base substitution A G upstream_gene_variant MELA-AU 7 66145662 66145663 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 7 66145742 66145742 single base substitution T A upstream_gene_variant MELA-AU 7 66145845 66145845 single base substitution G A upstream_gene_variant MELA-AU 7 66145996 66145996 single base substitution G A upstream_gene_variant MELA-AU 7 66146987 66146987 single base substitution C T upstream_gene_variant MELA-AU 7 66147100 66147100 single base substitution G A upstream_gene_variant MELA-AU 7 66147187 66147187 single base substitution G A 5_prime_UTR_variant MELA-AU 7 66147510 66147510 single base substitution G T intron_variant MELA-AU 7 66147804 66147804 single base substitution G A intron_variant MELA-AU 7 66148133 66148133 single base substitution C T intron_variant MELA-AU 7 66148439 66148439 single base substitution C T intron_variant MELA-AU 7 66148752 66148752 single base substitution G A intron_variant MELA-AU 7 66149313 66149313 single base substitution C T intron_variant MELA-AU 7 66149947 66149947 single base substitution C T intron_variant MELA-AU 7 66151185 66151185 single base substitution T G intron_variant MELA-AU 7 66151458 66151458 single base substitution C T intron_variant MELA-AU 7 66151571 66151571 single base substitution T C intron_variant MELA-AU 7 66151899 66151899 single base substitution C T intron_variant MELA-AU 7 66152238 66152238 single base substitution A G intron_variant MELA-AU 7 66152735 66152735 single base substitution G T intron_variant MELA-AU 7 66152871 66152871 single base substitution A C intron_variant MELA-AU 7 66152956 66152956 single base substitution C T intron_variant MELA-AU 7 66153026 66153026 single base substitution C T intron_variant MELA-AU 7 66153098 66153098 single base substitution A G intron_variant MELA-AU 7 66153327 66153327 single base substitution C T intron_variant MELA-AU 7 66153476 66153476 single base substitution C T intron_variant MELA-AU 7 66153562 66153562 single base substitution C T intron_variant MELA-AU 7 66154431 66154431 single base substitution A T intron_variant MELA-AU 7 66155572 66155572 single base substitution C T intron_variant MELA-AU 7 66155820 66155820 single base substitution C T intron_variant MELA-AU 7 66156077 66156077 single base substitution C T intron_variant MELA-AU 7 66156616 66156616 single base substitution T G intron_variant MELA-AU 7 66156627 66156627 single base substitution T C intron_variant MELA-AU 7 66157065 66157065 single base substitution C T intron_variant MELA-AU 7 66157302 66157302 single base substitution C T intron_variant MELA-AU 7 66158086 66158087 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 66158090 66158090 single base substitution G A intron_variant MELA-AU 7 66158193 66158193 single base substitution C T intron_variant MELA-AU 7 66158315 66158315 single base substitution C T intron_variant MELA-AU 7 66158370 66158370 single base substitution C T intron_variant MELA-AU 7 66158508 66158508 single base substitution T A intron_variant MELA-AU 7 66158520 66158520 single base substitution C T intron_variant MELA-AU 7 66158573 66158573 single base substitution C T intron_variant MELA-AU 7 66159391 66159392 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 66159845 66159845 single base substitution C T intron_variant MELA-AU 7 66159974 66159974 single base substitution A C intron_variant MELA-AU 7 66160599 66160599 single base substitution G A intron_variant MELA-AU 7 66162374 66162374 single base substitution C T intron_variant MELA-AU 7 66162483 66162483 single base substitution C T intron_variant MELA-AU 7 66162486 66162486 single base substitution C T intron_variant MELA-AU 7 66162530 66162530 single base substitution C T intron_variant MELA-AU 7 66162911 66162911 single base substitution C T intron_variant MELA-AU 7 66165162 66165162 single base substitution C T intron_variant MELA-AU 7 66165414 66165414 single base substitution C T intron_variant MELA-AU 7 66165478 66165478 single base substitution G A intron_variant MELA-AU 7 66165980 66165980 single base substitution C T intron_variant MELA-AU 7 66166893 66166893 single base substitution T C intron_variant MELA-AU 7 66167577 66167577 single base substitution C T intron_variant MELA-AU 7 66168163 66168163 single base substitution C T intron_variant MELA-AU 7 66168248 66168248 single base substitution C T intron_variant MELA-AU 7 66168377 66168377 single base substitution T G intron_variant MELA-AU 7 66168607 66168607 single base substitution C T intron_variant MELA-AU 7 66168781 66168781 single base substitution G A intron_variant MELA-AU 7 66169661 66169661 single base substitution G A intron_variant MELA-AU 7 66169680 66169680 single base substitution C A intron_variant MELA-AU 7 66169680 66169680 single base substitution C T intron_variant MELA-AU 7 66169722 66169722 single base substitution C T intron_variant MELA-AU 7 66169877 66169877 single base substitution C T intron_variant MELA-AU 7 66170417 66170417 single base substitution C T intron_variant MELA-AU 7 66170980 66170980 single base substitution C T intron_variant MELA-AU 7 66171124 66171124 single base substitution C T intron_variant MELA-AU 7 66171186 66171186 single base substitution G A intron_variant MELA-AU 7 66171415 66171415 single base substitution T G intron_variant MELA-AU 7 66171576 66171576 single base substitution T A intron_variant MELA-AU 7 66171724 66171724 single base substitution C T intron_variant MELA-AU 7 66171818 66171818 single base substitution G A intron_variant MELA-AU 7 66172194 66172194 single base substitution C T intron_variant MELA-AU 7 66172393 66172393 single base substitution A T intron_variant MELA-AU 7 66172570 66172570 single base substitution G A intron_variant MELA-AU 7 66172733 66172733 single base substitution C T intron_variant MELA-AU 7 66173124 66173124 single base substitution C T intron_variant MELA-AU 7 66173218 66173218 single base substitution C T intron_variant MELA-AU 7 66173294 66173294 single base substitution A C intron_variant MELA-AU 7 66173301 66173301 single base substitution C T intron_variant MELA-AU 7 66173365 66173365 single base substitution C T intron_variant MELA-AU 7 66174192 66174192 single base substitution C T intron_variant MELA-AU 7 66174379 66174379 single base substitution C T intron_variant MELA-AU 7 66174540 66174540 single base substitution C T intron_variant MELA-AU 7 66174804 66174804 single base substitution T G intron_variant MELA-AU 7 66175455 66175455 single base substitution C T intron_variant MELA-AU 7 66175504 66175504 single base substitution C T intron_variant MELA-AU 7 66175690 66175690 single base substitution C T intron_variant MELA-AU 7 66176142 66176142 single base substitution C T intron_variant MELA-AU 7 66177003 66177003 single base substitution C T intron_variant MELA-AU 7 66177518 66177518 single base substitution C T intron_variant MELA-AU 7 66177635 66177635 single base substitution C T intron_variant MELA-AU 7 66177655 66177655 single base substitution C T intron_variant MELA-AU 7 66177787 66177787 single base substitution C T intron_variant MELA-AU 7 66177799 66177799 single base substitution C T intron_variant MELA-AU 7 66177877 66177877 single base substitution C T intron_variant MELA-AU 7 66178325 66178325 single base substitution C T intron_variant MELA-AU 7 66178350 66178350 single base substitution C T intron_variant MELA-AU 7 66178364 66178364 single base substitution C T intron_variant MELA-AU 7 66178634 66178634 single base substitution G A intron_variant MELA-AU 7 66179124 66179124 single base substitution G A intron_variant MELA-AU 7 66179565 66179565 single base substitution C T intron_variant MELA-AU 7 66179876 66179876 single base substitution C T intron_variant MELA-AU 7 66179977 66179977 single base substitution C T intron_variant MELA-AU 7 66180306 66180306 single base substitution C T intron_variant MELA-AU 7 66180419 66180419 single base substitution T C intron_variant MELA-AU 7 66180441 66180441 single base substitution C T intron_variant MELA-AU 7 66180455 66180455 single base substitution C T intron_variant MELA-AU 7 66180533 66180533 single base substitution C T intron_variant MELA-AU 7 66181096 66181096 single base substitution C T intron_variant MELA-AU 7 66181154 66181154 single base substitution C T intron_variant MELA-AU 7 66181201 66181201 single base substitution T C intron_variant MELA-AU 7 66181224 66181224 single base substitution T A intron_variant MELA-AU 7 66181228 66181228 single base substitution C T intron_variant MELA-AU 7 66181639 66181639 single base substitution T C intron_variant MELA-AU 7 66181647 66181647 single base substitution T A intron_variant MELA-AU 7 66182772 66182772 single base substitution C T intron_variant MELA-AU 7 66182972 66182972 single base substitution T C intron_variant MELA-AU 7 66183116 66183116 single base substitution G A intron_variant MELA-AU 7 66183457 66183457 single base substitution C T intron_variant MELA-AU 7 66183818 66183818 single base substitution C T intron_variant MELA-AU 7 66184058 66184058 single base substitution C T intron_variant MELA-AU 7 66184765 66184765 single base substitution C G intron_variant MELA-AU 7 66185187 66185187 single base substitution T A intron_variant MELA-AU 7 66185990 66185990 single base substitution C T intron_variant MELA-AU 7 66186069 66186069 single base substitution C T intron_variant MELA-AU 7 66186628 66186628 single base substitution C T intron_variant MELA-AU 7 66186657 66186657 single base substitution C G intron_variant MELA-AU 7 66186818 66186818 single base substitution C T intron_variant MELA-AU 7 66186968 66186968 single base substitution C T intron_variant MELA-AU 7 66187176 66187176 single base substitution C T intron_variant MELA-AU 7 66187420 66187420 single base substitution C T intron_variant MELA-AU 7 66187917 66187917 single base substitution T C intron_variant MELA-AU 7 66187986 66187986 single base substitution C T intron_variant MELA-AU 7 66189138 66189138 single base substitution C T intron_variant MELA-AU 7 66189564 66189564 single base substitution C T intron_variant MELA-AU 7 66189749 66189749 single base substitution T C intron_variant MELA-AU 7 66190022 66190022 single base substitution C T intron_variant MELA-AU 7 66190150 66190150 single base substitution C T intron_variant MELA-AU 7 66190324 66190324 single base substitution C T intron_variant MELA-AU 7 66190399 66190399 single base substitution C T intron_variant MELA-AU 7 66190602 66190602 single base substitution C T intron_variant MELA-AU 7 66191150 66191150 single base substitution T C intron_variant MELA-AU 7 66191653 66191653 single base substitution C T intron_variant MELA-AU 7 66192368 66192368 single base substitution C T intron_variant MELA-AU 7 66192968 66192968 single base substitution C T intron_variant MELA-AU 7 66193011 66193011 single base substitution C T intron_variant MELA-AU 7 66193138 66193138 single base substitution G A intron_variant MELA-AU 7 66193648 66193648 single base substitution C T intron_variant MELA-AU 7 66194586 66194586 single base substitution C T intron_variant MELA-AU 7 66194731 66194731 single base substitution C T intron_variant MELA-AU 7 66195135 66195135 single base substitution C T intron_variant MELA-AU 7 66195735 66195735 single base substitution G A intron_variant MELA-AU 7 66195765 66195765 single base substitution G A intron_variant MELA-AU 7 66195899 66195899 single base substitution C T intron_variant MELA-AU 7 66195910 66195910 single base substitution G A intron_variant MELA-AU 7 66196412 66196412 single base substitution G A intron_variant MELA-AU 7 66196731 66196731 single base substitution T G intron_variant MELA-AU 7 66197294 66197294 single base substitution C T intron_variant MELA-AU 7 66198170 66198170 single base substitution G A intron_variant MELA-AU 7 66198769 66198769 single base substitution C T intron_variant MELA-AU 7 66199512 66199512 single base substitution A C intron_variant MELA-AU 7 66201800 66201800 single base substitution T C intron_variant MELA-AU 7 66201800 66201800 single base substitution T C upstream_gene_variant MELA-AU 7 66205311 66205312 deletion of <=200bp AG - 5_prime_UTR_variant MELA-AU 7 66205311 66205312 deletion of <=200bp AG - upstream_gene_variant MELA-AU 7 66205592 66205592 single base substitution C T 5_prime_UTR_variant MELA-AU 7 66205592 66205592 single base substitution C T upstream_gene_variant MELA-AU 7 66205653 66205653 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 7 66205653 66205653 single base substitution C T upstream_gene_variant MELA-AU 7 66205664 66205665 multiple base substitution (>=2bp and <=200bp) CC TT 5_prime_UTR_variant MELA-AU 7 66205664 66205665 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 7 66207313 66207313 single base substitution C T intron_variant MELA-AU 7 66208226 66208226 single base substitution C T intron_variant MELA-AU 7 66208344 66208345 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 66208345 66208345 single base substitution C T intron_variant MELA-AU 7 66208736 66208736 single base substitution C T intron_variant MELA-AU 7 66209289 66209289 single base substitution G A intron_variant MELA-AU 7 66209376 66209376 single base substitution C T intron_variant MELA-AU 7 66209485 66209485 single base substitution C T intron_variant MELA-AU 7 66210199 66210199 single base substitution C T intron_variant MELA-AU 7 66210468 66210468 single base substitution C T intron_variant MELA-AU 7 66211493 66211493 single base substitution A T intron_variant MELA-AU 7 66211511 66211511 single base substitution C T intron_variant MELA-AU 7 66212134 66212134 single base substitution A G intron_variant MELA-AU 7 66212265 66212265 single base substitution C T intron_variant MELA-AU 7 66212525 66212525 single base substitution A G intron_variant MELA-AU 7 66212649 66212649 single base substitution T C intron_variant MELA-AU 7 66212689 66212689 single base substitution C T intron_variant MELA-AU 7 66212727 66212727 single base substitution C T intron_variant MELA-AU 7 66212811 66212811 single base substitution C T intron_variant MELA-AU 7 66213099 66213099 single base substitution C T intron_variant MELA-AU 7 66213473 66213473 single base substitution T C intron_variant MELA-AU 7 66213560 66213560 single base substitution C T intron_variant MELA-AU 7 66213685 66213685 single base substitution C T intron_variant MELA-AU 7 66215387 66215387 single base substitution A C intron_variant MELA-AU 7 66215683 66215683 single base substitution C T intron_variant MELA-AU 7 66215969 66215969 single base substitution C T intron_variant MELA-AU 7 66215969 66215969 single base substitution C T upstream_gene_variant MELA-AU 7 66216508 66216508 single base substitution C T intron_variant MELA-AU 7 66216508 66216508 single base substitution C T upstream_gene_variant MELA-AU 7 66217183 66217183 single base substitution A T intron_variant MELA-AU 7 66217183 66217183 single base substitution A T upstream_gene_variant MELA-AU 7 66217418 66217418 single base substitution T C intron_variant MELA-AU 7 66217418 66217418 single base substitution T C upstream_gene_variant MELA-AU 7 66217487 66217487 single base substitution A T intron_variant MELA-AU 7 66217487 66217487 single base substitution A T upstream_gene_variant MELA-AU 7 66218215 66218215 single base substitution C T intron_variant MELA-AU 7 66218215 66218215 single base substitution C T upstream_gene_variant MELA-AU 7 66218875 66218875 single base substitution G T intron_variant MELA-AU 7 66218875 66218875 single base substitution G T upstream_gene_variant MELA-AU 7 66219513 66219513 single base substitution G T intron_variant MELA-AU 7 66219513 66219513 single base substitution G T upstream_gene_variant MELA-AU 7 66220491 66220491 single base substitution A T intron_variant MELA-AU 7 66220491 66220491 single base substitution A T upstream_gene_variant MELA-AU 7 66221263 66221263 single base substitution C T intron_variant MELA-AU 7 66222347 66222347 single base substitution A T intron_variant MELA-AU 7 66222687 66222687 single base substitution C T intron_variant MELA-AU 7 66222850 66222850 single base substitution G A intron_variant MELA-AU 7 66222958 66222958 single base substitution C T intron_variant MELA-AU 7 66223038 66223038 single base substitution C T intron_variant MELA-AU 7 66223045 66223045 single base substitution G C intron_variant MELA-AU 7 66223298 66223299 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 66223299 66223299 single base substitution C T intron_variant MELA-AU 7 66223630 66223630 single base substitution A C intron_variant MELA-AU 7 66223911 66223911 single base substitution C T intron_variant MELA-AU 7 66224225 66224226 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 66225406 66225406 single base substitution C T intron_variant MELA-AU 7 66227079 66227079 single base substitution C T intron_variant MELA-AU 7 66227405 66227405 single base substitution C T intron_variant MELA-AU 7 66227491 66227491 single base substitution C T intron_variant MELA-AU 7 66228293 66228293 single base substitution C G intron_variant MELA-AU 7 66228966 66228966 single base substitution A G intron_variant MELA-AU 7 66229086 66229086 single base substitution G A intron_variant MELA-AU 7 66229424 66229424 single base substitution C T intron_variant MELA-AU 7 66231010 66231010 single base substitution G A intron_variant MELA-AU 7 66231075 66231075 single base substitution C T intron_variant MELA-AU 7 66231775 66231775 single base substitution G A intron_variant MELA-AU 7 66231810 66231810 single base substitution C T intron_variant MELA-AU 7 66231954 66231954 single base substitution C T intron_variant MELA-AU 7 66231954 66231954 single base substitution C T upstream_gene_variant MELA-AU 7 66231960 66231960 single base substitution C T intron_variant MELA-AU 7 66231960 66231960 single base substitution C T upstream_gene_variant MELA-AU 7 66233338 66233338 single base substitution C T intron_variant MELA-AU 7 66233338 66233338 single base substitution C T upstream_gene_variant MELA-AU 7 66233668 66233668 single base substitution C T intron_variant MELA-AU 7 66233668 66233668 single base substitution C T upstream_gene_variant MELA-AU 7 66233706 66233706 single base substitution A T intron_variant MELA-AU 7 66233706 66233706 single base substitution A T upstream_gene_variant MELA-AU 7 66233769 66233769 single base substitution C T intron_variant MELA-AU 7 66233769 66233769 single base substitution C T upstream_gene_variant MELA-AU 7 66234988 66234988 single base substitution C T intron_variant MELA-AU 7 66234988 66234988 single base substitution C T upstream_gene_variant MELA-AU 7 66237120 66237120 single base substitution C T downstream_gene_variant MELA-AU 7 66237120 66237120 single base substitution C T intron_variant MELA-AU 7 66237436 66237436 single base substitution C T downstream_gene_variant MELA-AU 7 66237436 66237436 single base substitution C T intron_variant MELA-AU 7 66237631 66237631 single base substitution C T downstream_gene_variant MELA-AU 7 66237631 66237631 single base substitution C T intron_variant MELA-AU 7 66237876 66237876 single base substitution G A downstream_gene_variant MELA-AU 7 66237876 66237876 single base substitution G A intron_variant MELA-AU 7 66238039 66238039 single base substitution G A downstream_gene_variant MELA-AU 7 66238039 66238039 single base substitution G A intron_variant MELA-AU 7 66238306 66238306 single base substitution C T downstream_gene_variant MELA-AU 7 66238306 66238306 single base substitution C T intron_variant MELA-AU 7 66238622 66238622 single base substitution C T downstream_gene_variant MELA-AU 7 66238622 66238622 single base substitution C T intron_variant MELA-AU 7 66238813 66238813 single base substitution C T downstream_gene_variant MELA-AU 7 66238813 66238813 single base substitution C T intron_variant MELA-AU 7 66239050 66239050 single base substitution C T downstream_gene_variant MELA-AU 7 66239050 66239050 single base substitution C T intron_variant MELA-AU 7 66239062 66239062 single base substitution C T downstream_gene_variant MELA-AU 7 66239062 66239062 single base substitution C T intron_variant MELA-AU 7 66239174 66239174 single base substitution C T downstream_gene_variant MELA-AU 7 66239174 66239174 single base substitution C T intron_variant MELA-AU 7 66239593 66239593 single base substitution C T downstream_gene_variant MELA-AU 7 66239593 66239593 single base substitution C T intron_variant MELA-AU 7 66240169 66240170 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 7 66240169 66240170 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 66240198 66240198 single base substitution C T downstream_gene_variant MELA-AU 7 66240198 66240198 single base substitution C T intron_variant MELA-AU 7 66242808 66242808 single base substitution C T intron_variant MELA-AU 7 66242870 66242870 single base substitution C T intron_variant MELA-AU 7 66243027 66243027 single base substitution C T intron_variant MELA-AU 7 66243041 66243041 single base substitution T A intron_variant MELA-AU 7 66243214 66243214 single base substitution C A intron_variant MELA-AU 7 66243769 66243769 single base substitution C T intron_variant MELA-AU 7 66243962 66243962 single base substitution T G intron_variant MELA-AU 7 66243982 66243982 single base substitution A G intron_variant MELA-AU 7 66244172 66244172 single base substitution C T intron_variant MELA-AU 7 66244178 66244178 single base substitution C T intron_variant MELA-AU 7 66244253 66244253 single base substitution G A intron_variant MELA-AU 7 66244449 66244449 single base substitution C T intron_variant MELA-AU 7 66244581 66244581 single base substitution C T intron_variant MELA-AU 7 66244586 66244586 single base substitution G A intron_variant MELA-AU 7 66244775 66244776 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 66245283 66245283 single base substitution T G intron_variant MELA-AU 7 66245300 66245300 single base substitution C T intron_variant MELA-AU 7 66245361 66245361 single base substitution C T intron_variant MELA-AU 7 66246381 66246381 single base substitution G T intron_variant MELA-AU 7 66246591 66246591 single base substitution G T intron_variant MELA-AU 7 66246717 66246717 single base substitution C T intron_variant MELA-AU 7 66246770 66246770 single base substitution C T intron_variant MELA-AU 7 66247813 66247813 single base substitution C T intron_variant MELA-AU 7 66247885 66247885 single base substitution G A intron_variant MELA-AU 7 66247982 66247982 single base substitution C T intron_variant MELA-AU 7 66248273 66248273 single base substitution C T intron_variant MELA-AU 7 66248958 66248958 single base substitution T C intron_variant MELA-AU 7 66248993 66248993 single base substitution C T intron_variant MELA-AU 7 66250069 66250069 single base substitution C T intron_variant MELA-AU 7 66250702 66250702 single base substitution A T intron_variant MELA-AU 7 66250743 66250743 single base substitution C T intron_variant MELA-AU 7 66250985 66250985 single base substitution C T intron_variant MELA-AU 7 66251636 66251636 single base substitution C T intron_variant MELA-AU 7 66252126 66252126 single base substitution C T intron_variant MELA-AU 7 66252211 66252211 single base substitution G A intron_variant MELA-AU 7 66252408 66252409 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 66252574 66252574 single base substitution C T intron_variant MELA-AU 7 66253000 66253000 single base substitution C T intron_variant MELA-AU 7 66254032 66254032 single base substitution G A intron_variant MELA-AU 7 66254618 66254618 single base substitution C T intron_variant MELA-AU 7 66254652 66254652 single base substitution G A intron_variant MELA-AU 7 66254790 66254791 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 66255329 66255329 single base substitution C T intron_variant MELA-AU 7 66256084 66256084 single base substitution C T intron_variant MELA-AU 7 66256752 66256752 single base substitution A C intron_variant MELA-AU 7 66257133 66257133 single base substitution C T intron_variant MELA-AU 7 66257546 66257546 single base substitution C T intron_variant MELA-AU 7 66257546 66257546 single base substitution C T upstream_gene_variant MELA-AU 7 66258160 66258160 single base substitution T A intron_variant MELA-AU 7 66258160 66258160 single base substitution T A upstream_gene_variant MELA-AU 7 66258308 66258308 single base substitution C T intron_variant MELA-AU 7 66258308 66258308 single base substitution C T upstream_gene_variant MELA-AU 7 66258800 66258800 single base substitution T C intron_variant MELA-AU 7 66258800 66258800 single base substitution T C upstream_gene_variant MELA-AU 7 66258954 66258954 single base substitution C T intron_variant MELA-AU 7 66258954 66258954 single base substitution C T upstream_gene_variant MELA-AU 7 66259278 66259278 single base substitution C T intron_variant MELA-AU 7 66259278 66259278 single base substitution C T upstream_gene_variant MELA-AU 7 66260195 66260195 single base substitution C T intron_variant MELA-AU 7 66260195 66260195 single base substitution C T upstream_gene_variant MELA-AU 7 66260280 66260280 single base substitution C T intron_variant MELA-AU 7 66260280 66260280 single base substitution C T upstream_gene_variant MELA-AU 7 66260807 66260807 single base substitution C T intron_variant MELA-AU 7 66260807 66260807 single base substitution C T upstream_gene_variant MELA-AU 7 66261449 66261449 single base substitution G A intron_variant MELA-AU 7 66261449 66261449 single base substitution G A upstream_gene_variant MELA-AU 7 66261472 66261472 single base substitution C T intron_variant MELA-AU 7 66261472 66261472 single base substitution C T upstream_gene_variant MELA-AU 7 66262034 66262034 single base substitution C T intron_variant MELA-AU 7 66262034 66262034 single base substitution C T upstream_gene_variant MELA-AU 7 66262045 66262045 single base substitution G T intron_variant MELA-AU 7 66262045 66262045 single base substitution G T upstream_gene_variant MELA-AU 7 66263367 66263367 single base substitution C T intron_variant MELA-AU 7 66264067 66264067 single base substitution C T intron_variant MELA-AU 7 66264167 66264167 single base substitution G C intron_variant MELA-AU 7 66264718 66264718 single base substitution C T intron_variant MELA-AU 7 66264944 66264944 single base substitution C T intron_variant MELA-AU 7 66265097 66265097 single base substitution C T intron_variant MELA-AU 7 66265347 66265347 single base substitution C T intron_variant MELA-AU 7 66265594 66265594 single base substitution C T intron_variant MELA-AU 7 66265617 66265617 single base substitution C T intron_variant MELA-AU 7 66266297 66266297 single base substitution C T intron_variant MELA-AU 7 66266438 66266438 single base substitution C T intron_variant MELA-AU 7 66268579 66268579 single base substitution G A intron_variant MELA-AU 7 66268673 66268673 single base substitution C T intron_variant MELA-AU 7 66268786 66268786 single base substitution G A intron_variant MELA-AU 7 66268908 66268908 single base substitution C T intron_variant MELA-AU 7 66269519 66269519 single base substitution C T intron_variant MELA-AU 7 66270251 66270251 single base substitution C T 3_prime_UTR_variant MELA-AU 7 66270251 66270251 single base substitution C T exon_variant MELA-AU 7 66270251 66270251 single base substitution C T synonymous_variant F315F 945C>T MELA-AU 7 66270251 66270251 single base substitution C T synonymous_variant F328F 984C>T MELA-AU 7 66270251 66270251 single base substitution C T synonymous_variant F329F 987C>T MELA-AU 7 66270462 66270462 single base substitution C T intron_variant MELA-AU 7 66270990 66270990 single base substitution C T intron_variant MELA-AU 7 66271817 66271817 single base substitution G A intron_variant MELA-AU 7 66272284 66272284 single base substitution C T intron_variant MELA-AU 7 66272807 66272807 single base substitution T G intron_variant MELA-AU 7 66272809 66272809 single base substitution T C intron_variant MELA-AU 7 66272887 66272887 single base substitution C T exon_variant MELA-AU 7 66272887 66272887 single base substitution C T intron_variant MELA-AU 7 66273326 66273326 single base substitution C T downstream_gene_variant MELA-AU 7 66273326 66273326 single base substitution C T intron_variant MELA-AU 7 66273839 66273839 single base substitution C T downstream_gene_variant MELA-AU 7 66273839 66273839 single base substitution C T intron_variant MELA-AU 7 66273921 66273921 single base substitution C T 3_prime_UTR_variant MELA-AU 7 66273921 66273921 single base substitution C T downstream_gene_variant MELA-AU 7 66273921 66273921 single base substitution C T exon_variant MELA-AU 7 66273921 66273921 single base substitution C T synonymous_variant L376L 1126C>T MELA-AU 7 66273921 66273921 single base substitution C T synonymous_variant L389L 1165C>T MELA-AU 7 66273921 66273921 single base substitution C T synonymous_variant L390L 1168C>T MELA-AU 7 66274113 66274113 single base substitution G A 3_prime_UTR_variant MELA-AU 7 66274113 66274113 single base substitution G A downstream_gene_variant MELA-AU 7 66274113 66274113 single base substitution G A exon_variant MELA-AU 7 66274113 66274113 single base substitution G A missense_variant D440N 1318G>A MELA-AU 7 66274113 66274113 single base substitution G A missense_variant D453N 1357G>A MELA-AU 7 66274113 66274113 single base substitution G A missense_variant D454N 1360G>A MELA-AU 7 66274521 66274521 single base substitution C T 3_prime_UTR_variant MELA-AU 7 66274521 66274521 single base substitution C T downstream_gene_variant MELA-AU 7 66274521 66274521 single base substitution C T exon_variant MELA-AU 7 66274534 66274534 single base substitution C T 3_prime_UTR_variant MELA-AU 7 66274534 66274534 single base substitution C T downstream_gene_variant MELA-AU 7 66274534 66274534 single base substitution C T exon_variant MELA-AU 7 66275245 66275246 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 7 66275245 66275246 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 7 66275245 66275246 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 7 66275396 66275396 single base substitution C T 3_prime_UTR_variant MELA-AU 7 66275396 66275396 single base substitution C T downstream_gene_variant MELA-AU 7 66275396 66275396 single base substitution C T exon_variant MELA-AU 7 66275438 66275438 single base substitution C T 3_prime_UTR_variant MELA-AU 7 66275438 66275438 single base substitution C T downstream_gene_variant MELA-AU 7 66275438 66275438 single base substitution C T exon_variant MELA-AU 7 66276172 66276172 single base substitution C A 3_prime_UTR_variant MELA-AU 7 66276172 66276172 single base substitution C A downstream_gene_variant MELA-AU 7 66276172 66276172 single base substitution C A exon_variant MELA-AU 7 66276245 66276245 single base substitution C T 3_prime_UTR_variant MELA-AU 7 66276245 66276245 single base substitution C T downstream_gene_variant MELA-AU 7 66276301 66276301 single base substitution C T 3_prime_UTR_variant MELA-AU 7 66276301 66276301 single base substitution C T downstream_gene_variant MELA-AU 7 66276434 66276434 single base substitution C T 3_prime_UTR_variant MELA-AU 7 66276434 66276434 single base substitution C T downstream_gene_variant MELA-AU 7 66277877 66277877 single base substitution C T downstream_gene_variant MELA-AU 7 66278206 66278206 single base substitution C T downstream_gene_variant MELA-AU 7 66278295 66278295 single base substitution C T downstream_gene_variant MELA-AU 7 66278744 66278744 single base substitution A G downstream_gene_variant MELA-AU 7 66279154 66279154 single base substitution C T downstream_gene_variant MELA-AU 7 66279889 66279889 single base substitution C T downstream_gene_variant MELA-AU 7 66280848 66280848 single base substitution C T downstream_gene_variant MELA-AU 7 66281411 66281411 single base substitution C T downstream_gene_variant ORCA-IN 7 66149300 66149300 single base substitution G A intron_variant ORCA-IN 7 66152678 66152678 single base substitution T C intron_variant ORCA-IN 7 66170057 66170057 single base substitution C A intron_variant ORCA-IN 7 66177856 66177856 single base substitution C A intron_variant ORCA-IN 7 66190914 66190914 single base substitution C T intron_variant ORCA-IN 7 66198338 66198338 single base substitution G C intron_variant ORCA-IN 7 66203009 66203010 deletion of <=200bp TG - intron_variant ORCA-IN 7 66203009 66203010 deletion of <=200bp TG - upstream_gene_variant ORCA-IN 7 66207819 66207819 single base substitution C A intron_variant ORCA-IN 7 66222189 66222189 single base substitution C T intron_variant ORCA-IN 7 66232268 66232268 single base substitution G C intron_variant ORCA-IN 7 66232268 66232268 single base substitution G C upstream_gene_variant ORCA-IN 7 66250599 66250599 single base substitution C T intron_variant ORCA-IN 7 66256883 66256883 single base substitution G A intron_variant OV-AU 7 66145396 66145396 single base substitution T A upstream_gene_variant OV-AU 7 66148299 66148299 single base substitution C T intron_variant OV-AU 7 66151161 66151161 single base substitution G A intron_variant OV-AU 7 66154650 66154650 single base substitution C T intron_variant OV-AU 7 66162090 66162090 single base substitution G C intron_variant OV-AU 7 66167781 66167781 single base substitution A G intron_variant OV-AU 7 66168649 66168649 single base substitution T C intron_variant OV-AU 7 66172456 66172456 single base substitution G A intron_variant OV-AU 7 66173808 66173808 single base substitution T A intron_variant OV-AU 7 66177994 66177994 single base substitution G C intron_variant OV-AU 7 66178834 66178834 single base substitution C G intron_variant OV-AU 7 66180306 66180306 single base substitution C A intron_variant OV-AU 7 66185190 66185190 single base substitution T A intron_variant OV-AU 7 66194521 66194521 single base substitution C G intron_variant OV-AU 7 66196505 66196505 single base substitution A G intron_variant OV-AU 7 66202973 66202973 single base substitution A G intron_variant OV-AU 7 66202973 66202973 single base substitution A G upstream_gene_variant OV-AU 7 66205640 66205640 single base substitution C G 5_prime_UTR_variant OV-AU 7 66205640 66205640 single base substitution C G upstream_gene_variant OV-AU 7 66205873 66205873 single base substitution T G intron_variant OV-AU 7 66212264 66212264 single base substitution T C intron_variant OV-AU 7 66218400 66218400 single base substitution A T intron_variant OV-AU 7 66218400 66218400 single base substitution A T upstream_gene_variant OV-AU 7 66219706 66219706 single base substitution A C intron_variant OV-AU 7 66219706 66219706 single base substitution A C upstream_gene_variant OV-AU 7 66224481 66224481 single base substitution G A intron_variant OV-AU 7 66228051 66228051 single base substitution C T intron_variant OV-AU 7 66232030 66232030 single base substitution C T intron_variant OV-AU 7 66232030 66232030 single base substitution C T upstream_gene_variant OV-AU 7 66234137 66234137 single base substitution G C intron_variant OV-AU 7 66234137 66234137 single base substitution G C upstream_gene_variant OV-AU 7 66239610 66239610 single base substitution G C downstream_gene_variant OV-AU 7 66239610 66239610 single base substitution G C intron_variant OV-AU 7 66248726 66248726 single base substitution A G exon_variant OV-AU 7 66248726 66248726 single base substitution A G intron_variant OV-AU 7 66248726 66248726 single base substitution A G synonymous_variant R137R 411A>G OV-AU 7 66248726 66248726 single base substitution A G synonymous_variant R150R 450A>G OV-AU 7 66248726 66248726 single base substitution A G synonymous_variant R151R 453A>G OV-AU 7 66259325 66259325 single base substitution T C intron_variant OV-AU 7 66259325 66259325 single base substitution T C upstream_gene_variant OV-AU 7 66262320 66262320 single base substitution A T intron_variant OV-AU 7 66262320 66262320 single base substitution A T upstream_gene_variant OV-AU 7 66265828 66265828 single base substitution C T intron_variant OV-AU 7 66266073 66266073 single base substitution C T intron_variant OV-AU 7 66271821 66271821 single base substitution G A intron_variant PACA-AU 7 66145432 66145434 deletion of <=200bp TGT - upstream_gene_variant PACA-AU 7 66145482 66145482 single base substitution C G upstream_gene_variant PACA-AU 7 66149116 66149116 single base substitution A T intron_variant PACA-AU 7 66149260 66149260 single base substitution G A intron_variant PACA-AU 7 66150457 66150457 single base substitution C T intron_variant PACA-AU 7 66154933 66154933 single base substitution C T intron_variant PACA-AU 7 66157885 66157885 deletion of <=200bp C - intron_variant PACA-AU 7 66159683 66159683 single base substitution A G intron_variant PACA-AU 7 66166505 66166505 insertion of <=200bp - A intron_variant PACA-AU 7 66167227 66167265 deletion of <=200bp CTTTAGGGTTGGATAATATTTCATTGTATGGATAGACCA - intron_variant PACA-AU 7 66169390 66169390 single base substitution A G intron_variant PACA-AU 7 66173556 66173556 single base substitution G A intron_variant PACA-AU 7 66173645 66173646 deletion of <=200bp AA - intron_variant PACA-AU 7 66175265 66175265 single base substitution C T intron_variant PACA-AU 7 66186180 66186180 insertion of <=200bp - A intron_variant PACA-AU 7 66192624 66192624 single base substitution G A intron_variant PACA-AU 7 66193349 66193349 single base substitution G A intron_variant PACA-AU 7 66197986 66197986 single base substitution G T intron_variant PACA-AU 7 66206445 66206445 single base substitution A G intron_variant PACA-AU 7 66209465 66209465 single base substitution C T intron_variant PACA-AU 7 66211058 66211058 single base substitution A C intron_variant PACA-AU 7 66217341 66217341 single base substitution G T intron_variant PACA-AU 7 66217341 66217341 single base substitution G T upstream_gene_variant PACA-AU 7 66222517 66222517 single base substitution A G intron_variant PACA-AU 7 66224990 66224990 single base substitution G A intron_variant PACA-AU 7 66226578 66226578 single base substitution T G intron_variant PACA-AU 7 66231698 66231698 insertion of <=200bp - TTATTTAT intron_variant PACA-AU 7 66233239 66233239 single base substitution G C intron_variant PACA-AU 7 66233239 66233239 single base substitution G C upstream_gene_variant PACA-AU 7 66236187 66236187 single base substitution G A intron_variant PACA-AU 7 66236187 66236187 single base substitution G A upstream_gene_variant PACA-AU 7 66244361 66244361 single base substitution C T intron_variant PACA-AU 7 66247797 66247797 deletion of <=200bp A - intron_variant PACA-AU 7 66261569 66261569 single base substitution T G intron_variant PACA-AU 7 66261569 66261569 single base substitution T G upstream_gene_variant PACA-AU 7 66268553 66268553 single base substitution C T intron_variant PACA-AU 7 66274292 66274292 insertion of <=200bp - T 3_prime_UTR_variant PACA-AU 7 66274292 66274292 insertion of <=200bp - T downstream_gene_variant PACA-AU 7 66274292 66274292 insertion of <=200bp - T exon_variant PACA-AU 7 66274295 66274295 single base substitution A T 3_prime_UTR_variant PACA-AU 7 66274295 66274295 single base substitution A T downstream_gene_variant PACA-AU 7 66274295 66274295 single base substitution A T exon_variant PACA-AU 7 66278550 66278550 single base substitution C A downstream_gene_variant PACA-CA 7 66144077 66144077 single base substitution C T upstream_gene_variant PACA-CA 7 66144484 66144484 single base substitution T G upstream_gene_variant PACA-CA 7 66145955 66145955 single base substitution G A upstream_gene_variant PACA-CA 7 66152397 66152397 single base substitution G A intron_variant PACA-CA 7 66152964 66152964 single base substitution C T intron_variant PACA-CA 7 66157065 66157065 single base substitution C T intron_variant PACA-CA 7 66159245 66159245 single base substitution C T intron_variant PACA-CA 7 66160675 66160675 single base substitution A G intron_variant PACA-CA 7 66161064 66161064 single base substitution T A intron_variant PACA-CA 7 66163088 66163088 insertion of <=200bp - C intron_variant PACA-CA 7 66164020 66164020 single base substitution G T intron_variant PACA-CA 7 66170411 66170411 single base substitution G A intron_variant PACA-CA 7 66173259 66173259 insertion of <=200bp - G intron_variant PACA-CA 7 66179126 66179126 single base substitution T C intron_variant PACA-CA 7 66179981 66179981 single base substitution G A intron_variant PACA-CA 7 66180934 66180934 single base substitution G A intron_variant PACA-CA 7 66181590 66181593 deletion of <=200bp AATA - intron_variant PACA-CA 7 66188555 66188555 deletion of <=200bp T - intron_variant PACA-CA 7 66193676 66193676 single base substitution A G intron_variant PACA-CA 7 66196771 66196771 single base substitution C T intron_variant PACA-CA 7 66199677 66199677 deletion of <=200bp C - intron_variant PACA-CA 7 66205695 66205695 single base substitution G A 5_prime_UTR_variant PACA-CA 7 66205695 66205695 single base substitution G A upstream_gene_variant PACA-CA 7 66206404 66206404 single base substitution C T intron_variant PACA-CA 7 66207449 66207449 single base substitution A G intron_variant PACA-CA 7 66212542 66212542 insertion of <=200bp - TCACATAG intron_variant PACA-CA 7 66222799 66222799 single base substitution C T intron_variant PACA-CA 7 66224940 66224940 single base substitution T C intron_variant PACA-CA 7 66227933 66227933 single base substitution T C intron_variant PACA-CA 7 66229686 66229686 single base substitution C G intron_variant PACA-CA 7 66236530 66236530 single base substitution G T intron_variant PACA-CA 7 66236530 66236530 single base substitution G T upstream_gene_variant PACA-CA 7 66237622 66237622 single base substitution G A downstream_gene_variant PACA-CA 7 66237622 66237622 single base substitution G A intron_variant PACA-CA 7 66240398 66240398 deletion of <=200bp T - downstream_gene_variant PACA-CA 7 66240398 66240398 deletion of <=200bp T - intron_variant PACA-CA 7 66242812 66242812 insertion of <=200bp - T intron_variant PACA-CA 7 66243882 66243882 single base substitution C A intron_variant PACA-CA 7 66244334 66244334 single base substitution T C intron_variant PACA-CA 7 66247106 66247106 single base substitution C T intron_variant PACA-CA 7 66249150 66249150 single base substitution C G intron_variant PACA-CA 7 66250222 66250222 single base substitution T C intron_variant PACA-CA 7 66252385 66252385 single base substitution C T intron_variant PACA-CA 7 66252874 66252874 insertion of <=200bp - T intron_variant PACA-CA 7 66254428 66254428 insertion of <=200bp - AGAT intron_variant PACA-CA 7 66261174 66261174 single base substitution G C intron_variant PACA-CA 7 66261174 66261174 single base substitution G C upstream_gene_variant PACA-CA 7 66262456 66262456 single base substitution G A 3_prime_UTR_variant PACA-CA 7 66262456 66262456 single base substitution G A exon_variant PACA-CA 7 66262456 66262456 single base substitution G A missense_variant D231N 691G>A PACA-CA 7 66262456 66262456 single base substitution G A missense_variant D244N 730G>A PACA-CA 7 66262456 66262456 single base substitution G A missense_variant D245N 733G>A PACA-CA 7 66264075 66264075 single base substitution C A intron_variant PACA-CA 7 66264163 66264163 single base substitution G A intron_variant PACA-CA 7 66267004 66267004 single base substitution C A intron_variant PACA-CA 7 66269026 66269026 single base substitution A C intron_variant PACA-CA 7 66272821 66272821 single base substitution C G intron_variant PACA-CA 7 66276345 66276345 single base substitution C A 3_prime_UTR_variant PACA-CA 7 66276345 66276345 single base substitution C A downstream_gene_variant PACA-CA 7 66278059 66278059 single base substitution G A downstream_gene_variant PAEN-AU 7 66188904 66188904 single base substitution C A intron_variant PAEN-AU 7 66223106 66223106 single base substitution A T intron_variant PAEN-AU 7 66241521 66241521 single base substitution A C downstream_gene_variant PAEN-AU 7 66241521 66241521 single base substitution A C intron_variant PAEN-AU 7 66270527 66270527 single base substitution G T intron_variant PAEN-AU 7 66280940 66280940 single base substitution G A downstream_gene_variant PAEN-IT 7 66169338 66169338 single base substitution C A intron_variant PAEN-IT 7 66187374 66187374 single base substitution C A intron_variant PAEN-IT 7 66265267 66265267 single base substitution G T intron_variant PBCA-DE 7 66167335 66167336 deletion of <=200bp TG - intron_variant PBCA-DE 7 66186747 66186747 single base substitution C T intron_variant PBCA-DE 7 66196543 66196543 insertion of <=200bp - A intron_variant PBCA-DE 7 66210024 66210024 deletion of <=200bp A - intron_variant PBCA-DE 7 66212080 66212080 single base substitution C G intron_variant PBCA-DE 7 66217176 66217176 single base substitution C T intron_variant PBCA-DE 7 66217176 66217176 single base substitution C T upstream_gene_variant PBCA-DE 7 66226054 66226054 single base substitution C T intron_variant PBCA-DE 7 66273902 66273902 single base substitution A G 3_prime_UTR_variant PBCA-DE 7 66273902 66273902 single base substitution A G downstream_gene_variant PBCA-DE 7 66273902 66273902 single base substitution A G exon_variant PBCA-DE 7 66273902 66273902 single base substitution A G synonymous_variant L369L 1107A>G PBCA-DE 7 66273902 66273902 single base substitution A G synonymous_variant L382L 1146A>G PBCA-DE 7 66273902 66273902 single base substitution A G synonymous_variant L383L 1149A>G PRAD-CA 7 66145659 66145659 single base substitution C A upstream_gene_variant PRAD-CA 7 66148033 66148033 single base substitution G A intron_variant PRAD-CA 7 66201864 66201864 single base substitution C G intron_variant PRAD-CA 7 66201864 66201864 single base substitution C G upstream_gene_variant PRAD-CA 7 66202060 66202060 single base substitution T A intron_variant PRAD-CA 7 66202060 66202060 single base substitution T A upstream_gene_variant PRAD-CA 7 66202074 66202074 single base substitution C A intron_variant PRAD-CA 7 66202074 66202074 single base substitution C A upstream_gene_variant PRAD-CA 7 66202080 66202080 single base substitution C A intron_variant PRAD-CA 7 66202080 66202080 single base substitution C A upstream_gene_variant PRAD-CA 7 66213411 66213411 single base substitution C A intron_variant PRAD-CA 7 66222020 66222020 single base substitution G T intron_variant PRAD-CA 7 66229177 66229177 single base substitution T C intron_variant PRAD-CA 7 66255094 66255094 single base substitution T C intron_variant PRAD-CA 7 66274953 66274953 single base substitution A T 3_prime_UTR_variant PRAD-CA 7 66274953 66274953 single base substitution A T downstream_gene_variant PRAD-CA 7 66274953 66274953 single base substitution A T exon_variant PRAD-CA 7 66275732 66275732 single base substitution G A 3_prime_UTR_variant PRAD-CA 7 66275732 66275732 single base substitution G A downstream_gene_variant PRAD-CA 7 66275732 66275732 single base substitution G A exon_variant PRAD-UK 7 66166504 66166504 single base substitution T A intron_variant PRAD-UK 7 66190214 66190214 single base substitution C T intron_variant PRAD-UK 7 66204406 66204406 single base substitution C T intron_variant PRAD-UK 7 66204406 66204406 single base substitution C T upstream_gene_variant PRAD-UK 7 66217976 66217976 single base substitution T G intron_variant PRAD-UK 7 66217976 66217976 single base substitution T G upstream_gene_variant PRAD-UK 7 66240344 66240344 deletion of <=200bp T - downstream_gene_variant PRAD-UK 7 66240344 66240344 deletion of <=200bp T - exon_variant PRAD-UK 7 66240344 66240344 deletion of <=200bp T - frameshift_variant F104 PRAD-UK 7 66240344 66240344 deletion of <=200bp T - frameshift_variant F117 PRAD-UK 7 66240344 66240344 deletion of <=200bp T - frameshift_variant F118 PRAD-UK 7 66247369 66247369 single base substitution T G intron_variant PRAD-UK 7 66252040 66252040 single base substitution G T intron_variant PRAD-UK 7 66257714 66257714 single base substitution G T intron_variant PRAD-UK 7 66257714 66257714 single base substitution G T upstream_gene_variant PRAD-UK 7 66262865 66262865 single base substitution C A intron_variant READ-US 7 66240367 66240367 single base substitution C T downstream_gene_variant READ-US 7 66240367 66240367 single base substitution C T exon_variant READ-US 7 66240367 66240367 single base substitution C T synonymous_variant V111V 333C>T READ-US 7 66240367 66240367 single base substitution C T synonymous_variant V124V 372C>T READ-US 7 66240367 66240367 single base substitution C T synonymous_variant V125V 375C>T RECA-EU 7 66149074 66149074 single base substitution T C intron_variant RECA-EU 7 66172758 66172758 single base substitution C T intron_variant RECA-EU 7 66174835 66174835 single base substitution T G intron_variant RECA-EU 7 66179712 66179712 single base substitution G C intron_variant RECA-EU 7 66189645 66189645 single base substitution T A intron_variant RECA-EU 7 66196529 66196529 single base substitution C T intron_variant RECA-EU 7 66198353 66198353 single base substitution G T intron_variant RECA-EU 7 66202086 66202086 single base substitution A C intron_variant RECA-EU 7 66202086 66202086 single base substitution A C upstream_gene_variant RECA-EU 7 66211730 66211730 single base substitution C T intron_variant RECA-EU 7 66219682 66219682 single base substitution A C intron_variant RECA-EU 7 66219682 66219682 single base substitution A C upstream_gene_variant RECA-EU 7 66229114 66229114 single base substitution C A intron_variant RECA-EU 7 66237831 66237831 single base substitution G A downstream_gene_variant RECA-EU 7 66237831 66237831 single base substitution G A intron_variant RECA-EU 7 66241879 66241879 single base substitution G C downstream_gene_variant RECA-EU 7 66241879 66241879 single base substitution G C intron_variant RECA-EU 7 66263509 66263509 single base substitution T G intron_variant SKCA-BR 7 66142748 66142749 deletion of <=200bp CA - upstream_gene_variant SKCA-BR 7 66144269 66144269 insertion of <=200bp - AT upstream_gene_variant SKCA-BR 7 66146380 66146381 deletion of <=200bp CT - upstream_gene_variant SKCA-BR 7 66150882 66150882 single base substitution C T intron_variant SKCA-BR 7 66151173 66151173 single base substitution C T intron_variant SKCA-BR 7 66152122 66152123 deletion of <=200bp TC - intron_variant SKCA-BR 7 66152123 66152123 single base substitution C T intron_variant SKCA-BR 7 66156002 66156002 single base substitution G T intron_variant SKCA-BR 7 66158087 66158087 single base substitution C T intron_variant SKCA-BR 7 66158798 66158798 insertion of <=200bp - CT intron_variant SKCA-BR 7 66159261 66159261 single base substitution C T intron_variant SKCA-BR 7 66161790 66161790 single base substitution T C intron_variant SKCA-BR 7 66163503 66163503 single base substitution C T intron_variant SKCA-BR 7 66166130 66166130 single base substitution T G intron_variant SKCA-BR 7 66167470 66167470 single base substitution C T intron_variant SKCA-BR 7 66169602 66169602 single base substitution C T intron_variant SKCA-BR 7 66170185 66170185 single base substitution C T intron_variant SKCA-BR 7 66170430 66170430 insertion of <=200bp - AAGACAGAGAG intron_variant SKCA-BR 7 66170432 66170432 insertion of <=200bp - GAC intron_variant SKCA-BR 7 66171150 66171150 single base substitution A G intron_variant SKCA-BR 7 66172286 66172286 single base substitution C T intron_variant SKCA-BR 7 66172519 66172519 single base substitution G A intron_variant SKCA-BR 7 66173523 66173523 single base substitution A C intron_variant SKCA-BR 7 66175618 66175618 single base substitution C T intron_variant SKCA-BR 7 66175846 66175846 single base substitution G T intron_variant SKCA-BR 7 66176334 66176334 single base substitution C T intron_variant SKCA-BR 7 66178206 66178206 single base substitution G A intron_variant SKCA-BR 7 66185913 66185913 single base substitution G A intron_variant SKCA-BR 7 66186014 66186014 single base substitution C T intron_variant SKCA-BR 7 66190046 66190046 single base substitution C T intron_variant SKCA-BR 7 66190794 66190794 single base substitution C T intron_variant SKCA-BR 7 66190795 66190795 single base substitution C T intron_variant SKCA-BR 7 66192460 66192460 single base substitution A C intron_variant SKCA-BR 7 66193095 66193095 single base substitution C T intron_variant SKCA-BR 7 66193096 66193096 single base substitution C T intron_variant SKCA-BR 7 66194263 66194263 single base substitution C T intron_variant SKCA-BR 7 66194737 66194737 single base substitution G A intron_variant SKCA-BR 7 66196588 66196588 single base substitution C T intron_variant SKCA-BR 7 66196744 66196744 single base substitution A C intron_variant SKCA-BR 7 66199105 66199105 single base substitution A C intron_variant SKCA-BR 7 66200305 66200305 single base substitution A G intron_variant SKCA-BR 7 66200810 66200810 single base substitution C T intron_variant SKCA-BR 7 66200810 66200810 single base substitution C T upstream_gene_variant SKCA-BR 7 66202060 66202060 single base substitution T A intron_variant SKCA-BR 7 66202060 66202060 single base substitution T A upstream_gene_variant SKCA-BR 7 66202388 66202388 single base substitution G A intron_variant SKCA-BR 7 66202388 66202388 single base substitution G A upstream_gene_variant SKCA-BR 7 66203011 66203011 insertion of <=200bp - TTG intron_variant SKCA-BR 7 66203011 66203011 insertion of <=200bp - TTG upstream_gene_variant SKCA-BR 7 66203017 66203017 single base substitution T G intron_variant SKCA-BR 7 66203017 66203017 single base substitution T G upstream_gene_variant SKCA-BR 7 66203718 66203718 insertion of <=200bp - CAAA intron_variant SKCA-BR 7 66203718 66203718 insertion of <=200bp - CAAA upstream_gene_variant SKCA-BR 7 66204545 66204545 single base substitution T G intron_variant SKCA-BR 7 66204545 66204545 single base substitution T G upstream_gene_variant SKCA-BR 7 66204644 66204651 deletion of <=200bp CAAAAAAA - intron_variant SKCA-BR 7 66204644 66204651 deletion of <=200bp CAAAAAAA - upstream_gene_variant SKCA-BR 7 66204672 66204672 single base substitution A T intron_variant SKCA-BR 7 66204672 66204672 single base substitution A T upstream_gene_variant SKCA-BR 7 66207137 66207137 insertion of <=200bp - CA intron_variant SKCA-BR 7 66208315 66208315 single base substitution T A intron_variant SKCA-BR 7 66209028 66209028 single base substitution C T intron_variant SKCA-BR 7 66211470 66211470 single base substitution G T intron_variant SKCA-BR 7 66211697 66211697 single base substitution A C intron_variant SKCA-BR 7 66213687 66213687 single base substitution G A intron_variant SKCA-BR 7 66217480 66217480 insertion of <=200bp - TA intron_variant SKCA-BR 7 66217480 66217480 insertion of <=200bp - TA upstream_gene_variant SKCA-BR 7 66217970 66217970 single base substitution T C intron_variant SKCA-BR 7 66217970 66217970 single base substitution T C upstream_gene_variant SKCA-BR 7 66218115 66218115 single base substitution G A intron_variant SKCA-BR 7 66218115 66218115 single base substitution G A upstream_gene_variant SKCA-BR 7 66221712 66221712 single base substitution G A intron_variant SKCA-BR 7 66223692 66223692 single base substitution G A intron_variant SKCA-BR 7 66224368 66224368 single base substitution T C intron_variant SKCA-BR 7 66227078 66227078 single base substitution C T intron_variant SKCA-BR 7 66230529 66230529 single base substitution C T intron_variant SKCA-BR 7 66232278 66232278 single base substitution C T intron_variant SKCA-BR 7 66232278 66232278 single base substitution C T upstream_gene_variant SKCA-BR 7 66238069 66238070 deletion of <=200bp TG - downstream_gene_variant SKCA-BR 7 66238069 66238070 deletion of <=200bp TG - intron_variant SKCA-BR 7 66238070 66238070 single base substitution G T downstream_gene_variant SKCA-BR 7 66238070 66238070 single base substitution G T intron_variant SKCA-BR 7 66238605 66238605 single base substitution A G downstream_gene_variant SKCA-BR 7 66238605 66238605 single base substitution A G intron_variant SKCA-BR 7 66239393 66239393 single base substitution T C downstream_gene_variant SKCA-BR 7 66239393 66239393 single base substitution T C intron_variant SKCA-BR 7 66241183 66241183 single base substitution C T downstream_gene_variant SKCA-BR 7 66241183 66241183 single base substitution C T intron_variant SKCA-BR 7 66241504 66241504 single base substitution A C downstream_gene_variant SKCA-BR 7 66241504 66241504 single base substitution A C intron_variant SKCA-BR 7 66244091 66244091 single base substitution C T intron_variant SKCA-BR 7 66245615 66245615 single base substitution A G intron_variant SKCA-BR 7 66257939 66257939 single base substitution T G intron_variant SKCA-BR 7 66257939 66257939 single base substitution T G upstream_gene_variant SKCA-BR 7 66260281 66260281 single base substitution C T intron_variant SKCA-BR 7 66260281 66260281 single base substitution C T upstream_gene_variant SKCA-BR 7 66260950 66260950 single base substitution A C intron_variant SKCA-BR 7 66260950 66260950 single base substitution A C upstream_gene_variant SKCA-BR 7 66264717 66264717 single base substitution C T intron_variant SKCA-BR 7 66271661 66271661 single base substitution C T intron_variant SKCA-BR 7 66272800 66272800 single base substitution C T intron_variant SKCA-BR 7 66272976 66272976 single base substitution T C exon_variant SKCA-BR 7 66272976 66272976 single base substitution T C intron_variant SKCA-BR 7 66273218 66273218 insertion of <=200bp - TG downstream_gene_variant SKCA-BR 7 66273218 66273218 insertion of <=200bp - TG intron_variant SKCA-BR 7 66279297 66279297 single base substitution G A downstream_gene_variant SKCA-BR 7 66280300 66280300 single base substitution A C downstream_gene_variant SKCA-BR 7 66280635 66280635 single base substitution A C downstream_gene_variant SKCM-US 7 66264330 66264330 single base substitution C T 3_prime_UTR_variant SKCM-US 7 66264330 66264330 single base substitution C T exon_variant SKCM-US 7 66264330 66264330 single base substitution C T missense_variant P250L 749C>T SKCM-US 7 66264330 66264330 single base substitution C T missense_variant P263L 788C>T SKCM-US 7 66264330 66264330 single base substitution C T missense_variant P264L 791C>T SKCM-US 7 66270287 66270287 insertion of <=200bp - AA 3_prime_UTR_variant SKCM-US 7 66270287 66270287 insertion of <=200bp - AA exon_variant SKCM-US 7 66270287 66270287 insertion of <=200bp - AA frameshift_variant N327K? SKCM-US 7 66270287 66270287 insertion of <=200bp - AA frameshift_variant N340K? SKCM-US 7 66270287 66270287 insertion of <=200bp - AA frameshift_variant N341K? SKCM-US 7 66270311 66270311 single base substitution C T 3_prime_UTR_variant SKCM-US 7 66270311 66270311 single base substitution C T exon_variant SKCM-US 7 66270311 66270311 single base substitution C T synonymous_variant I335I 1005C>T SKCM-US 7 66270311 66270311 single base substitution C T synonymous_variant I348I 1044C>T SKCM-US 7 66270311 66270311 single base substitution C T synonymous_variant I349I 1047C>T SKCM-US 7 66273942 66273942 single base substitution C A 3_prime_UTR_variant SKCM-US 7 66273942 66273942 single base substitution C A downstream_gene_variant SKCM-US 7 66273942 66273942 single base substitution C A exon_variant SKCM-US 7 66273942 66273942 single base substitution C A missense_variant R383S 1147C>A SKCM-US 7 66273942 66273942 single base substitution C A missense_variant R396S 1186C>A SKCM-US 7 66273942 66273942 single base substitution C A missense_variant R397S 1189C>A STAD-US 7 66236966 66236966 single base substitution G T exon_variant STAD-US 7 66236966 66236966 single base substitution G T missense_variant G27V 80G>T STAD-US 7 66236966 66236966 single base substitution G T missense_variant G40V 119G>T STAD-US 7 66236966 66236966 single base substitution G T missense_variant G41V 122G>T STAD-US 7 66274183 66274183 single base substitution C A 3_prime_UTR_variant STAD-US 7 66274183 66274183 single base substitution C A downstream_gene_variant STAD-US 7 66274183 66274183 single base substitution C A exon_variant STAD-US 7 66274183 66274183 single base substitution C A missense_variant P463Q 1388C>A STAD-US 7 66274183 66274183 single base substitution C A missense_variant P476Q 1427C>A STAD-US 7 66274183 66274183 single base substitution C A missense_variant P477Q 1430C>A THCA-US 7 66262494 66262494 single base substitution G A splice_donor_variant UCEC-US 7 66236964 66236964 single base substitution C T exon_variant UCEC-US 7 66236964 66236964 single base substitution C T synonymous_variant Y26Y 78C>T UCEC-US 7 66236964 66236964 single base substitution C T synonymous_variant Y39Y 117C>T UCEC-US 7 66236964 66236964 single base substitution C T synonymous_variant Y40Y 120C>T UCEC-US 7 66248718 66248718 single base substitution A G exon_variant UCEC-US 7 66248718 66248718 single base substitution A G intron_variant UCEC-US 7 66248718 66248718 single base substitution A G missense_variant T135A 403A>G UCEC-US 7 66248718 66248718 single base substitution A G missense_variant T148A 442A>G UCEC-US 7 66248718 66248718 single base substitution A G missense_variant T149A 445A>G UCEC-US 7 66248761 66248761 single base substitution T C exon_variant UCEC-US 7 66248761 66248761 single base substitution T C intron_variant UCEC-US 7 66248761 66248761 single base substitution T C missense_variant F149S 446T>C UCEC-US 7 66248761 66248761 single base substitution T C missense_variant F162S 485T>C UCEC-US 7 66248761 66248761 single base substitution T C missense_variant F163S 488T>C UCEC-US 7 66262417 66262417 single base substitution C T 3_prime_UTR_variant UCEC-US 7 66262417 66262417 single base substitution C T exon_variant UCEC-US 7 66262417 66262417 single base substitution C T missense_variant R218C 652C>T UCEC-US 7 66262417 66262417 single base substitution C T missense_variant R231C 691C>T UCEC-US 7 66262417 66262417 single base substitution C T missense_variant R232C 694C>T UCEC-US 7 66270131 66270131 single base substitution C A 3_prime_UTR_variant UCEC-US 7 66270131 66270131 single base substitution C A exon_variant UCEC-US 7 66270131 66270131 single base substitution C A synonymous_variant I275I 825C>A UCEC-US 7 66270131 66270131 single base substitution C A synonymous_variant I288I 864C>A UCEC-US 7 66270131 66270131 single base substitution C A synonymous_variant I289I 867C>A UCEC-US 7 66270163 66270163 single base substitution A G 3_prime_UTR_variant UCEC-US 7 66270163 66270163 single base substitution A G exon_variant UCEC-US 7 66270163 66270163 single base substitution A G missense_variant D286G 857A>G UCEC-US 7 66270163 66270163 single base substitution A G missense_variant D299G 896A>G UCEC-US 7 66270163 66270163 single base substitution A G missense_variant D300G 899A>G UCEC-US 7 66270267 66270267 single base substitution T G 3_prime_UTR_variant UCEC-US 7 66270267 66270267 single base substitution T G exon_variant UCEC-US 7 66270267 66270267 single base substitution T G missense_variant Y321D 961T>G UCEC-US 7 66270267 66270267 single base substitution T G missense_variant Y334D 1000T>G UCEC-US 7 66270267 66270267 single base substitution T G missense_variant Y335D 1003T>G UCEC-US 7 66270295 66270295 single base substitution G A 3_prime_UTR_variant UCEC-US 7 66270295 66270295 single base substitution G A exon_variant UCEC-US 7 66270295 66270295 single base substitution G A missense_variant R330H 989G>A UCEC-US 7 66270295 66270295 single base substitution G A missense_variant R343H 1028G>A UCEC-US 7 66270295 66270295 single base substitution G A missense_variant R344H 1031G>A UCEC-US 7 66273875 66273875 single base substitution C T downstream_gene_variant UCEC-US 7 66273875 66273875 single base substitution C T splice_region_variant UCEC-US 7 66273956 66273956 single base substitution C T 3_prime_UTR_variant UCEC-US 7 66273956 66273956 single base substitution C T downstream_gene_variant UCEC-US 7 66273956 66273956 single base substitution C T exon_variant UCEC-US 7 66273956 66273956 single base substitution C T synonymous_variant G387G 1161C>T UCEC-US 7 66273956 66273956 single base substitution C T synonymous_variant G400G 1200C>T UCEC-US 7 66273956 66273956 single base substitution C T synonymous_variant G401G 1203C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand BD239T COSM5497134 c.766C>T p.P256S Substitution - Missense 7:66799360-66799360 + TCGA-B5-A11G-01 COSM1091344 c.652C>T p.R218C Substitution - Missense 7:66797430-66797430 + TCGA-AP-A0LM-01 COSM1091336 c.78C>T p.Y26Y Substitution - coding silent 7:66771977-66771977 + TCGA-32-4210-01 COSM3412240 c.956T>C p.L319P Substitution - Missense 7:66805275-66805275 + ESCC-148T COSM3942283 c.315C>T p.F105F Substitution - coding silent 7:66775362-66775362 + TCGA-AS-3778-01 COSM485507 c.613G>T p.E205* Substitution - Nonsense 7:66797391-66797391 + 587376 COSM1211695 c.173C>T p.A58V Substitution - Missense 7:66772072-66772072 + TCGA-26-5136-01 COSM2157104 c.705T>C p.D235D Substitution - coding silent 7:66797483-66797483 + HCC083T COSM5816427 c.526G>C p.E176Q Substitution - Missense 7:66795523-66795523 + TCGA-26-5136 COSM2157104 c.705T>C p.D235D Substitution - coding silent 7:66797483-66797483 + 2215528 COSM4169242 c.371G>C p.S124T Substitution - Missense 7:66783699-66783699 + TCGA-AX-A05Z-01 COSM1091345 c.825C>A p.I275I Substitution - coding silent 7:66805144-66805144 + GC10_T COSM150307 c.1111G>A p.A371T Substitution - Missense 7:66808919-66808919 + YUDUTY COSM1698708 c.377C>T p.S126F Substitution - Missense 7:66783705-66783705 + LUAD-B02594 COSM336922 c.835G>T p.D279Y Substitution - Missense 7:66805154-66805154 + TCGA-FU-A23L-01 COSM461561 c.538G>C p.E180Q Substitution - Missense 7:66795535-66795535 + TCGA-BG-A0MQ-01 COSM1091337 c.263A>G p.E88G Substitution - Missense 7:66775310-66775310 + TCGA-EI-6917-01 COSM3431733 c.333C>T p.V111V Substitution - coding silent 7:66775380-66775380 + LUAD-F00257 COSM340285 c.1005C>G p.I335M Substitution - Missense 7:66805324-66805324 + C008 COSM5523628 c.984C>T p.P328P Substitution - coding silent 7:66805303-66805303 + TCGA-24-0979-01 COSM80417 c.939T>C p.D313D Substitution - coding silent 7:66805258-66805258 + TCGA-AC-A23H-01 COSM3833094 c.1360G>A p.E454K Substitution - Missense 7:66809168-66809168 + CSCC-20-T COSM4449713 c.310delT p.F104fs*24 Deletion - Frameshift 7:66775357-66775357 + TCGA-AC-A3W6-01 COSM3833092 c.190G>A p.E64K Substitution - Missense 7:66775237-66775237 + HCT116 COSM3085910 c.1432G>T p.D478Y Substitution - Missense 7:66809240-66809240 + TCGA-28-2513-01 COSM3412233 c.220A>T p.S74C Substitution - Missense 7:66775267-66775267 + PD9759a COSM453305 c.899A>G p.N300S Substitution - Missense 7:66805218-66805218 + 35 COSM3374663 c.728+1G>A p.? Unknown 7:66797507-66797507 + T613 COSM4719922 c.1012A>G p.I338V Substitution - Missense 7:66805331-66805331 + BD124T COSM150307 c.1111G>A p.A371T Substitution - Missense 7:66808919-66808919 + TCGA-HU-A4G3-01 COSM3882086 c.1388C>A p.P463Q Substitution - Missense 7:66809196-66809196 + ccRCC-9 COSM1663800 c.742G>T p.V248F Substitution - Missense 7:66799336-66799336 + TCGA-G2-A2EL-01 COSM1313236 c.796G>C p.D266H Substitution - Missense 7:66799390-66799390 + YUAKER COSM1698709 c.986C>T p.P329L Substitution - Missense 7:66805305-66805305 + CRC-3 COSM304321 c.1230G>T p.M410I Substitution - Missense 7:66809038-66809038 + CSCC-40-T COSM3085901 c.981delC p.P329fs*19 Deletion - Frameshift 7:66805300-66805300 + TCGA-D3-A3C7-06 COSM1263714 c.1147C>A p.R383S Substitution - Missense 7:66808955-66808955 + TCGA-BJ-A28S-01 COSM3374663 c.728+1G>A p.? Unknown 7:66797507-66797507 + D01 COSM5544169 c.951C>T p.P317P Substitution - coding silent 7:66805270-66805270 + TCGA-28-5219-01 COSM3412235 c.245C>T p.T82I Substitution - Missense 7:66775292-66775292 + A3 COSM5351431 c.86C>G p.P29R Substitution - Missense 7:66771985-66771985 + CHEWS023 COSM4587518 c.772A>G p.N258D Substitution - Missense 7:66799366-66799366 + HCC042T COSM5823735 c.643A>T p.I215F Substitution - Missense 7:66797421-66797421 + TCGA-32-2634-01 COSM3412237 c.324T>C p.S108S Substitution - coding silent 7:66775371-66775371 + TCGA-34-5236-01 COSM747273 c.1110C>T p.D370D Substitution - coding silent 7:66808918-66808918 + LUAD-F00134 COSM340003 c.1408A>G p.I470V Substitution - Missense 7:66809216-66809216 + TCGA-CZ-5466-01 COSM485506 c.577A>T p.M193L Substitution - Missense 7:66795574-66795574 + ESO-2143 COSM1263714 c.1147C>A p.R383S Substitution - Missense 7:66808955-66808955 + TCGA-BP-4782-01 COSM485505 c.497G>C p.G166A Substitution - Missense 7:66783825-66783825 + TCGA-AG-3892-01 COSM257844 c.1183G>T p.E395* Substitution - Nonsense 7:66808991-66808991 + TCGA-GC-A3OO-01 COSM3778536 c.303G>A p.V101V Substitution - coding silent 7:66775350-66775350 + C086 COSM5537961 c.586C>T p.R196C Substitution - Missense 7:66795583-66795583 + PT46 COSM5928939 c.137C>T p.A46V Substitution - Missense 7:66772036-66772036 + 5853_PT COSM1091337 c.263A>G p.E88G Substitution - Missense 7:66775310-66775310 + MD-085 COSM303071 c.1073A>G p.N358S Substitution - Missense 7:66805392-66805392 + 2215529 COSM4169242 c.371G>C p.S124T Substitution - Missense 7:66783699-66783699 + TCGA-FD-A3B5-01 COSM1313239 c.1264G>C p.E422Q Substitution - Missense 7:66809072-66809072 + TCGA-BG-A0MQ-01 COSM1091338 c.277G>A p.E93K Substitution - Missense 7:66775324-66775324 + TCGA-34-2600-01 COSM747276 c.323C>T p.S108F Substitution - Missense 7:66775370-66775370 + TCGA-BG-A0MQ-01 COSM1091340 c.321A>G p.A107A Substitution - coding silent 7:66775368-66775368 + TCGA-D1-A160-01 COSM1091349 c.1080C>T p.C360C Substitution - coding silent 7:66808888-66808888 + NB-0121 COSM1287513 c.978C>A p.G326G Substitution - coding silent 7:66805297-66805297 + TCGA-A6-6780-01 COSM1451848 c.287G>A p.R96H Substitution - Missense 7:66775334-66775334 + TCGA-66-2771-01 COSM747274 c.861G>A p.K287K Substitution - coding silent 7:66805180-66805180 + PCSI_0472_Pa_P_526 COSM5031552 c.691G>A p.D231N Substitution - Missense 7:66797469-66797469 + pfg116T COSM4756713 c.856G>T p.D286Y Substitution - Missense 7:66805175-66805175 + TCGA-BG-A0MQ-01 COSM1091339 c.319G>A p.A107T Substitution - Missense 7:66775366-66775366 + ESCC_73 COSM5634614 c.704A>C p.D235A Substitution - Missense 7:66797482-66797482 + STC246 COSM5062545 c.529G>A p.E177K Substitution - Missense 7:66795526-66795526 + TCGA-EE-A2GC-06 COSM3640125 c.1005C>T p.I335I Substitution - coding silent 7:66805324-66805324 + TCGA-DK-A2I1-01 COSM1313237 c.873C>T p.I291I Substitution - coding silent 7:66805192-66805192 + TCGA-AP-A0LM-01 COSM1091350 c.1161C>T p.G387G Substitution - coding silent 7:66808969-66808969 + TCGA-BS-A0UJ-01 COSM1091341 c.403A>G p.T135A Substitution - Missense 7:66783731-66783731 + TCGA-BS-A0UF-01 COSM1091342 c.446T>C p.F149S Substitution - Missense 7:66783774-66783774 + RKO COSM3085907 c.1367A>G p.Y456C Substitution - Missense 7:66809175-66809175 + PM-7 COSM5620004 c.1219G>A p.V407I Substitution - Missense 7:66809027-66809027 + TCGA-G3-A7M5-01 COSM4941981 c.1069A>T p.T357S Substitution - Missense 7:66805388-66805388 + TCGA-C8-A135-01 COSM453304 c.85_88delCCTG p.A30fs*71 Deletion - Frameshift 7:66771984-66771987 + AOCS-094-6-X COSM4149312 c.411A>G p.R137R Substitution - coding silent 7:66783739-66783739 + HT115 COSM3085909 c.1388C>T p.P463L Substitution - Missense 7:66809196-66809196 + TCGA-D3-A3CB-06 COSM3640123 c.749C>T p.P250L Substitution - Missense 7:66799343-66799343 + TCGA-AP-A056-01 COSM1091347 c.961T>G p.Y321D Substitution - Missense 7:66805280-66805280 + TCGA-BS-A0UJ-01 COSM1091346 c.857A>G p.D286G Substitution - Missense 7:66805176-66805176 + PD4601a COSM163906 c.595+5C>T p.? Unknown 7:66795597-66795597 + 234 COSM3731406 c.980_981insC p.R330fs*5 Insertion - Frameshift 7:66805299-66805300 + TCGA-FD-A3B5-01 COSM1313238 c.1189G>A p.E397K Substitution - Missense 7:66808997-66808997 + D01 COSM5544167 c.950C>T p.P317L Substitution - Missense 7:66805269-66805269 + CSCC-2-T COSM4464692 c.1348C>G p.Q450E Substitution - Missense 7:66809156-66809156 + TCGA-AP-A0LG-01 COSM1091348 c.989G>A p.R330H Substitution - Missense 7:66805308-66805308 + TCGA-BR-6452-01 COSM3882083 c.80G>T p.G27V Substitution - Missense 7:66771979-66771979 + T578 COSM4719920 c.312C>A p.F104L Substitution - Missense 7:66775359-66775359 + ESO-021 COSM1263713 c.60G>A p.K20K Substitution - coding silent 7:66771959-66771959 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.530028;Hs.530030;Hs.530053 7q11.21 609700

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer - AA Frameshift p.P328Qfs*21 c.982_983insAA 7 66270288 CM A T Missense p.M193L c.577A>T 7 66260561 RCCC A T Missense p.S74C c.220A>T 7 66240254 GBM C A Missense p.R383S c.1147C>A 7 66273942 CM C A Missense p.R383S c.1147C>A 7 66273942 ESCA CCTG - Frameshift p.A30Gfs*71 c.89_92delCCTG 7 66236971 BRCA CC TT Missense p.P329L c.985_986delinsTT 7 66270291 CM C G Missense p.L17V c.49C>G 7 66236935 HNSC C T Missense p.P250L c.749C>T 7 66264330 CM C T Missense p.R218C c.652C>T 7 66262417 UCEC C T Missense p.S108F c.323C>T 7 66240357 LUSC C T Missense p.T305I c.914C>T 7 66270220 CM C T Missense p.T82I c.245C>T 7 66240279 GBM G A Missense p.E397K c.1189G>A 7 66273984 BLCA G A Missense p.R330H c.989G>A 7 66270295 UCEC G C Missense p.D266H c.796G>C 7 66264377 BLCA G C Missense p.E422Q c.1264G>C 7 66274059 BLCA G C Missense p.E67Q c.199G>C 7 66240233 LUAD G C Missense p.G166A c.497G>C 7 66248812 RCCC G C Missense p.K206N c.618G>C 7 66262383 HNSC G T Missense p.A289S c.865G>T 7 66270171 LUAD G T Missense p.R246L c.737G>T 7 66264318 LUAD T C Missense p.L319P c.956T>C 7 66270262 GBM