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 6 149699347 149699347 + Missense_Mutation SNP G G T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 g.chr6:149699347G>T c.296G>T c.(295-297)gGa>gTa p.G99V BLCA 6 149700055 149700055 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr6:149700055G>C c.1004G>C c.(1003-1005)aGa>aCa p.R335T BLCA 6 149700178 149700178 + Missense_Mutation SNP C C T TCGA-C4-A0F7-01A-11D-A10S-08 TCGA-C4-A0F7-10A-01D-A10S-08 g.chr6:149700178C>T c.1127C>T c.(1126-1128)aCg>aTg p.T376M BLCA 6 149700238 149700238 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 g.chr6:149700238G>C c.1187G>C c.(1186-1188)gGa>gCa p.G396A BLCA 6 149700405 149700405 + Nonsense_Mutation SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 g.chr6:149700405C>T c.1354C>T c.(1354-1356)Cga>Tga p.R452* BLCA 6 149700620 149700620 + Silent SNP G G C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 g.chr6:149700620G>C c.1569G>C c.(1567-1569)ctG>ctC p.L523L BLCA 6 149718775 149718775 + Missense_Mutation SNP C C T TCGA-GC-A6I1-01A-12D-A31L-08 TCGA-GC-A6I1-10A-01D-A31J-08 g.chr6:149718775C>T c.1639C>T c.(1639-1641)Ctt>Ttt p.L547F BLCA 6 149730837 149730837 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 g.chr6:149730837G>C c.2064G>C c.(2062-2064)gaG>gaC p.E688D BRCA 6 149699358 149699359 + Frame_Shift_Ins INS - - T TCGA-A8-A07G-01A-11W-A050-09 TCGA-A8-A07G-10A-01W-A055-09 g.chr6:149699358_149699359insT c.307_308insT c.(307-309)ctafs p.L103fs BRCA 6 149699979 149699979 + Missense_Mutation SNP A A G TCGA-AO-A128-01A-11D-A10M-09 TCGA-AO-A128-10A-01D-A10M-09 g.chr6:149699979A>G c.928A>G c.(928-930)Agc>Ggc p.S310G CESC 6 149699241 149699241 + Missense_Mutation SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 g.chr6:149699241G>C c.190G>C c.(190-192)Gat>Cat p.D64H CESC 6 149699569 149699569 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 g.chr6:149699569G>C c.518G>C c.(517-519)aGa>aCa p.R173T CESC 6 149700292 149700292 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 g.chr6:149700292G>C c.1241G>C c.(1240-1242)gGa>gCa p.G414A CESC 6 149719189 149719189 + Missense_Mutation SNP C C G TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 g.chr6:149719189C>G c.1849C>G c.(1849-1851)Caa>Gaa p.Q617E COAD 6 149699678 149699678 + Missense_Mutation SNP G G T TCGA-A6-3809-01A-01W-0995-10 TCGA-A6-3809-11A-01W-0995-10 g.chr6:149699678G>T c.627G>T c.(625-627)caG>caT p.Q209H COAD 6 149699797 149699797 + Missense_Mutation SNP A A G TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr6:149699797A>G c.746A>G c.(745-747)cAg>cGg p.Q249R COAD 6 149700064 149700064 + Missense_Mutation SNP C C A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr6:149700064C>A c.1013C>A c.(1012-1014)tCt>tAt p.S338Y COAD 6 149700455 149700455 + Silent SNP C C A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr6:149700455C>A c.1404C>A c.(1402-1404)gtC>gtA p.V468V COAD 6 149718856 149718856 + Nonsense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr6:149718856C>T c.1720C>T c.(1720-1722)Cga>Tga p.R574* COAD 6 149730820 149730820 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr6:149730820C>T c.2047C>T c.(2047-2049)Cgc>Tgc p.R683C COADREAD 6 149691206 149691206 + Missense_Mutation SNP G G A TCGA-AH-6643-01A-11D-1826-10 TCGA-AH-6643-11A-01D-1826-10 g.chr6:149691206G>A c.73G>A c.(73-75)Gaa>Aaa p.E25K COADREAD 6 149699662 149699662 + Missense_Mutation SNP T T A TCGA-F5-6571-01A-12D-1826-10 TCGA-F5-6571-10A-01D-1826-10 g.chr6:149699662T>A c.611T>A c.(610-612)gTa>gAa p.V204E COADREAD 6 149699678 149699678 + Missense_Mutation SNP G G T TCGA-A6-3809-01A-01W-0995-10 TCGA-A6-3809-11A-01W-0995-10 g.chr6:149699678G>T c.627G>T c.(625-627)caG>caT p.Q209H COADREAD 6 149699797 149699797 + Missense_Mutation SNP A A G TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr6:149699797A>G c.746A>G c.(745-747)cAg>cGg p.Q249R COADREAD 6 149700064 149700064 + Missense_Mutation SNP C C A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr6:149700064C>A c.1013C>A c.(1012-1014)tCt>tAt p.S338Y COADREAD 6 149700455 149700455 + Silent SNP C C A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr6:149700455C>A c.1404C>A c.(1402-1404)gtC>gtA p.V468V COADREAD 6 149718856 149718856 + Nonsense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr6:149718856C>T c.1720C>T c.(1720-1722)Cga>Tga p.R574* COADREAD 6 149730820 149730820 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr6:149730820C>T c.2047C>T c.(2047-2049)Cgc>Tgc p.R683C DLBC 6 149699333 149699333 + Silent SNP A A G TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr6:149699333A>G c.282A>G c.(280-282)ggA>ggG p.G94G ESCA 6 149699391 149699391 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 g.chr6:149699391G>T c.340G>T c.(340-342)Ggt>Tgt p.G114C ESCA 6 149699917 149699917 + Missense_Mutation SNP C C T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 g.chr6:149699917C>T c.866C>T c.(865-867)tCa>tTa p.S289L ESCA 6 149699963 149699963 + Silent SNP A A C TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 g.chr6:149699963A>C c.912A>C c.(910-912)tcA>tcC p.S304S ESCA 6 149730801 149730801 + Missense_Mutation SNP G G T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 g.chr6:149730801G>T c.2028G>T c.(2026-2028)ttG>ttT p.L676F GBM 6 149699411 149699411 + Silent SNP A A G TCGA-06-5858-01A-01D-1696-08 TCGA-06-5858-10A-01D-1696-08 g.chr6:149699411A>G c.360A>G c.(358-360)gaA>gaG p.E120E GBMLGG 6 149699411 149699411 + Silent SNP A A G TCGA-06-5858-01A-01D-1696-08 TCGA-06-5858-10A-01D-1696-08 g.chr6:149699411A>G c.360A>G c.(358-360)gaA>gaG p.E120E GBMLGG 6 149699803 149699803 + Nonsense_Mutation SNP C C A TCGA-CS-4942-01A-01D-1468-08 TCGA-CS-4942-10A-01D-1468-08 g.chr6:149699803C>A c.752C>A c.(751-753)tCa>tAa p.S251* GBMLGG 6 149699899 149699899 + Missense_Mutation SNP T T G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr6:149699899T>G c.848T>G c.(847-849)gTc>gGc p.V283G GBMLGG 6 149718775 149718775 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr6:149718775C>T c.1639C>T c.(1639-1641)Ctt>Ttt p.L547F HNSC 6 149691182 149691182 + Nonsense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr6:149691182C>T c.49C>T c.(49-51)Cga>Tga p.R17* HNSC 6 149699950 149699950 + Missense_Mutation SNP C C T TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 g.chr6:149699950C>T c.899C>T c.(898-900)tCa>tTa p.S300L HNSC 6 149700391 149700391 + Missense_Mutation SNP C C T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 g.chr6:149700391C>T c.1340C>T c.(1339-1341)tCt>tTt p.S447F HNSC 6 149719163 149719163 + Missense_Mutation SNP G G A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 g.chr6:149719163G>A c.1823G>A c.(1822-1824)tGc>tAc p.C608Y KIPAN 6 149691195 149691195 + Missense_Mutation SNP C C G TCGA-BP-4985-01A-01D-1462-08 TCGA-BP-4985-11A-01D-1462-08 g.chr6:149691195C>G c.62C>G c.(61-63)cCt>cGt p.P21R KIPAN 6 149699871 149699872 + Frame_Shift_Ins INS - - T TCGA-CW-6093-01A-11D-1669-08 TCGA-CW-6093-11A-01D-1669-08 g.chr6:149699871_149699872insT c.820_821insT c.(820-822)aatfs p.N274fs KIRC 6 149691195 149691195 + Missense_Mutation SNP C C G TCGA-BP-4985-01A-01D-1462-08 TCGA-BP-4985-11A-01D-1462-08 g.chr6:149691195C>G c.62C>G c.(61-63)cCt>cGt p.P21R KIRC 6 149699871 149699872 + Frame_Shift_Ins INS - - T TCGA-CW-6093-01A-11D-1669-08 TCGA-CW-6093-11A-01D-1669-08 g.chr6:149699871_149699872insT c.820_821insT c.(820-822)aatfs p.N274fs LGG 6 149699803 149699803 + Nonsense_Mutation SNP C C A TCGA-CS-4942-01A-01D-1468-08 TCGA-CS-4942-10A-01D-1468-08 g.chr6:149699803C>A c.752C>A c.(751-753)tCa>tAa p.S251* LGG 6 149699899 149699899 + Missense_Mutation SNP T T G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr6:149699899T>G c.848T>G c.(847-849)gTc>gGc p.V283G LGG 6 149718775 149718775 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr6:149718775C>T c.1639C>T c.(1639-1641)Ctt>Ttt p.L547F LIHC 6 149699603 149699604 + Frame_Shift_Ins INS - - A TCGA-DD-AAEK-01A-11D-A40R-10 TCGA-DD-AAEK-10A-01D-A40U-10 g.chr6:149699603_149699604insA c.552_553insA c.(553-555)atcfs p.I185fs LIHC 6 149700569 149700569 + Silent SNP C C A TCGA-CC-A7IE-01A-21D-A382-10 TCGA-CC-A7IE-10A-01D-A385-10 g.chr6:149700569C>A c.1518C>A c.(1516-1518)ctC>ctA p.L506L LUAD 6 149699609 149699609 + Missense_Mutation SNP G G T TCGA-78-7542-01A-21D-2063-08 TCGA-78-7542-11A-01D-2063-08 g.chr6:149699609G>T c.558G>T c.(556-558)caG>caT p.Q186H LUAD 6 149699976 149699976 + Missense_Mutation SNP C C G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 g.chr6:149699976C>G c.925C>G c.(925-927)Cat>Gat p.H309D LUAD 6 149700010 149700010 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 g.chr6:149700010G>T c.959G>T c.(958-960)gGa>gTa p.G320V LUAD 6 149700090 149700090 + Silent SNP C C A TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 g.chr6:149700090C>A c.1039C>A c.(1039-1041)Cga>Aga p.R347R LUAD 6 149700156 149700156 + Missense_Mutation SNP A A G TCGA-17-Z052-01A-01W-0747-08 TCGA-17-Z052-11A-01W-0747-08 g.chr6:149700156A>G c.1105A>G c.(1105-1107)Ata>Gta p.I369V LUAD 6 149700305 149700305 + Silent SNP C C T TCGA-17-Z026-01A-01W-0746-08 TCGA-17-Z026-11A-01W-0746-08 g.chr6:149700305C>T c.1254C>T c.(1252-1254)gcC>gcT p.A418A LUAD 6 149700627 149700627 + Nonsense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 g.chr6:149700627G>T c.1576G>T c.(1576-1578)Gga>Tga p.G526* LUAD 6 149730712 149730712 + Splice_Site SNP G G T TCGA-44-7667-01A-31D-2063-08 TCGA-44-7667-10A-01D-2063-08 g.chr6:149730712G>T c.e8-1 LUSC 6 149699963 149699963 + Silent SNP A A G TCGA-37-5819-01A-01D-1632-08 TCGA-37-5819-10A-01D-1632-08 g.chr6:149699963A>G c.912A>G c.(910-912)tcA>tcG p.S304S LUSC 6 149700403 149700403 + Missense_Mutation SNP C C A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 g.chr6:149700403C>A c.1352C>A c.(1351-1353)cCt>cAt p.P451H LUSC 6 149700431 149700431 + Silent SNP G G A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 g.chr6:149700431G>A c.1380G>A c.(1378-1380)acG>acA p.T460T PAAD 6 149699842 149699842 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr6:149699842C>A c.791C>A c.(790-792)cCt>cAt p.P264H PCPG 6 149718827 149718827 + Missense_Mutation SNP A A C TCGA-WB-A81Q-01A-11D-A35I-08 TCGA-WB-A81Q-10A-01D-A35G-08 g.chr6:149718827A>C c.1691A>C c.(1690-1692)gAg>gCg p.E564A PCPG 6 149718873 149718873 + Missense_Mutation SNP A A T TCGA-WB-A81Q-01A-11D-A35I-08 TCGA-WB-A81Q-10A-01D-A35G-08 g.chr6:149718873A>T c.1737A>T c.(1735-1737)agA>agT p.R579S PRAD 6 149699821 149699821 + Missense_Mutation SNP C C T TCGA-2A-A8VT-01A-11D-A377-08 TCGA-2A-A8VT-10A-01D-A37A-08 g.chr6:149699821C>T c.770C>T c.(769-771)aCt>aTt p.T257I PRAD 6 149700269 149700269 + Silent SNP A A G TCGA-J4-A6M7-01A-11D-A31L-08 TCGA-J4-A6M7-10A-01D-A31J-08 g.chr6:149700269A>G c.1218A>G c.(1216-1218)acA>acG p.T406T READ 6 149691206 149691206 + Missense_Mutation SNP G G A TCGA-AH-6643-01A-11D-1826-10 TCGA-AH-6643-11A-01D-1826-10 g.chr6:149691206G>A c.73G>A c.(73-75)Gaa>Aaa p.E25K READ 6 149699662 149699662 + Missense_Mutation SNP T T A TCGA-F5-6571-01A-12D-1826-10 TCGA-F5-6571-10A-01D-1826-10 g.chr6:149699662T>A c.611T>A c.(610-612)gTa>gAa p.V204E SKCM 6 149691193 149691193 + Silent SNP C C T TCGA-DA-A1HV-06A-21D-A196-08 TCGA-DA-A1HV-10A-01D-A198-08 g.chr6:149691193C>T c.60C>T c.(58-60)ttC>ttT p.F20F SKCM 6 149699485 149699485 + Missense_Mutation SNP C C T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 g.chr6:149699485C>T c.434C>T c.(433-435)tCc>tTc p.S145F SKCM 6 149699566 149699566 + Missense_Mutation SNP C C T TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr6:149699566C>T c.515C>T c.(514-516)cCc>cTc p.P172L SKCM 6 149699616 149699616 + Missense_Mutation SNP C C T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr6:149699616C>T c.565C>T c.(565-567)Cgt>Tgt p.R189C SKCM 6 149700080 149700080 + Silent SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr6:149700080T>C c.1029T>C c.(1027-1029)tcT>tcC p.S343S SKCM 6 149700081 149700081 + Missense_Mutation SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr6:149700081T>C c.1030T>C c.(1030-1032)Tct>Cct p.S344P SKCM 6 149700528 149700528 + Missense_Mutation SNP C C T TCGA-EE-A2MU-06A-21D-A196-08 TCGA-EE-A2MU-10A-01D-A198-08 g.chr6:149700528C>T c.1477C>T c.(1477-1479)Cat>Tat p.H493Y SKCM 6 149720247 149720247 + Silent SNP T T C TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr6:149720247T>C c.1866T>C c.(1864-1866)caT>caC p.H622H SKCM 6 149720314 149720314 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr6:149720314C>T c.1933C>T c.(1933-1935)Ccc>Tcc p.P645S

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 6 149699347 149699347 single base substitution G T exon_variant BLCA-US 6 149699347 149699347 single base substitution G T missense_variant G25V 74G>T BLCA-US 6 149699347 149699347 single base substitution G T missense_variant G67V 200G>T BLCA-US 6 149699347 149699347 single base substitution G T missense_variant G99V 296G>T BLCA-US 6 149700055 149700055 single base substitution G C downstream_gene_variant BLCA-US 6 149700055 149700055 single base substitution G C exon_variant BLCA-US 6 149700055 149700055 single base substitution G C missense_variant R303T 908G>C BLCA-US 6 149700055 149700055 single base substitution G C missense_variant R335T 1004G>C BLCA-US 6 149700178 149700178 single base substitution C T downstream_gene_variant BLCA-US 6 149700178 149700178 single base substitution C T exon_variant BLCA-US 6 149700178 149700178 single base substitution C T missense_variant T344M 1031C>T BLCA-US 6 149700178 149700178 single base substitution C T missense_variant T376M 1127C>T BLCA-US 6 149700238 149700238 single base substitution G C downstream_gene_variant BLCA-US 6 149700238 149700238 single base substitution G C exon_variant BLCA-US 6 149700238 149700238 single base substitution G C missense_variant G364A 1091G>C BLCA-US 6 149700238 149700238 single base substitution G C missense_variant G396A 1187G>C BLCA-US 6 149700620 149700620 single base substitution G C downstream_gene_variant BLCA-US 6 149700620 149700620 single base substitution G C exon_variant BLCA-US 6 149700620 149700620 single base substitution G C synonymous_variant L491L 1473G>C BLCA-US 6 149700620 149700620 single base substitution G C synonymous_variant L523L 1569G>C BLCA-US 6 149730837 149730837 single base substitution G C 3_prime_UTR_variant BLCA-US 6 149730837 149730837 single base substitution G C downstream_gene_variant BLCA-US 6 149730837 149730837 single base substitution G C missense_variant E656D 1968G>C BLCA-US 6 149730837 149730837 single base substitution G C missense_variant E688D 2064G>C BOCA-FR 6 149608992 149608992 single base substitution T G intron_variant BRCA-EU 6 149534951 149534951 single base substitution C G upstream_gene_variant BRCA-EU 6 149535843 149535843 single base substitution A T upstream_gene_variant BRCA-EU 6 149538082 149538082 single base substitution C G upstream_gene_variant BRCA-EU 6 149539628 149539628 single base substitution G A upstream_gene_variant BRCA-EU 6 149540404 149540404 single base substitution G A intron_variant BRCA-EU 6 149540553 149540553 single base substitution C T intron_variant BRCA-EU 6 149541084 149541084 single base substitution A G intron_variant BRCA-EU 6 149541123 149541123 single base substitution T G intron_variant BRCA-EU 6 149542076 149542076 single base substitution C G intron_variant BRCA-EU 6 149542375 149542375 single base substitution C G intron_variant BRCA-EU 6 149544548 149544548 single base substitution G T intron_variant BRCA-EU 6 149544943 149544943 single base substitution C T intron_variant BRCA-EU 6 149546861 149546861 single base substitution C T intron_variant BRCA-EU 6 149546873 149546873 single base substitution T G intron_variant BRCA-EU 6 149546931 149546931 single base substitution A G intron_variant BRCA-EU 6 149549828 149549828 single base substitution G C intron_variant BRCA-EU 6 149551240 149551240 single base substitution C T intron_variant BRCA-EU 6 149551856 149551856 single base substitution T C intron_variant BRCA-EU 6 149552239 149552239 single base substitution C T intron_variant BRCA-EU 6 149553373 149553373 single base substitution T C intron_variant BRCA-EU 6 149553497 149553497 single base substitution G A intron_variant BRCA-EU 6 149554428 149554428 single base substitution G C intron_variant BRCA-EU 6 149554836 149554836 single base substitution T C intron_variant BRCA-EU 6 149555050 149555050 single base substitution C T intron_variant BRCA-EU 6 149555277 149555277 single base substitution A G intron_variant BRCA-EU 6 149556241 149556241 single base substitution G A intron_variant BRCA-EU 6 149556740 149556740 single base substitution G T intron_variant BRCA-EU 6 149556747 149556747 single base substitution C A intron_variant BRCA-EU 6 149558726 149558726 single base substitution G C intron_variant BRCA-EU 6 149560531 149560531 single base substitution C G intron_variant BRCA-EU 6 149562863 149562863 single base substitution G A intron_variant BRCA-EU 6 149563036 149563036 single base substitution G T intron_variant BRCA-EU 6 149563786 149563786 single base substitution G C intron_variant BRCA-EU 6 149564900 149564900 single base substitution G A intron_variant BRCA-EU 6 149565050 149565050 single base substitution G A intron_variant BRCA-EU 6 149565543 149565543 single base substitution G T intron_variant BRCA-EU 6 149565707 149565707 single base substitution G A intron_variant BRCA-EU 6 149565734 149565734 single base substitution C G intron_variant BRCA-EU 6 149566608 149566608 single base substitution G C intron_variant BRCA-EU 6 149566715 149566715 single base substitution C T intron_variant BRCA-EU 6 149566717 149566717 single base substitution T C intron_variant BRCA-EU 6 149568336 149568336 single base substitution C G intron_variant BRCA-EU 6 149568703 149568703 single base substitution C T intron_variant BRCA-EU 6 149572036 149572036 single base substitution C G intron_variant BRCA-EU 6 149572463 149572463 single base substitution G C intron_variant BRCA-EU 6 149573269 149573269 single base substitution G T intron_variant BRCA-EU 6 149573967 149573967 single base substitution A T intron_variant BRCA-EU 6 149574527 149574527 single base substitution C T intron_variant BRCA-EU 6 149575583 149575583 single base substitution G C intron_variant BRCA-EU 6 149575840 149575840 single base substitution A G intron_variant BRCA-EU 6 149579247 149579247 single base substitution C T intron_variant BRCA-EU 6 149581852 149581852 single base substitution C T intron_variant BRCA-EU 6 149582861 149582861 single base substitution G A intron_variant BRCA-EU 6 149583808 149583808 single base substitution G A intron_variant BRCA-EU 6 149584970 149584970 single base substitution C G intron_variant BRCA-EU 6 149585145 149585145 single base substitution G C intron_variant BRCA-EU 6 149585816 149585816 single base substitution G A intron_variant BRCA-EU 6 149586785 149586785 single base substitution C T intron_variant BRCA-EU 6 149587531 149587532 deletion of <=200bp GT - intron_variant BRCA-EU 6 149588468 149588468 single base substitution C G intron_variant BRCA-EU 6 149591211 149591211 single base substitution C G intron_variant BRCA-EU 6 149591778 149591778 single base substitution G C intron_variant BRCA-EU 6 149592227 149592227 single base substitution T C intron_variant BRCA-EU 6 149594095 149594095 single base substitution G C intron_variant BRCA-EU 6 149596684 149596684 single base substitution C G intron_variant BRCA-EU 6 149597050 149597050 single base substitution G A intron_variant BRCA-EU 6 149597126 149597126 single base substitution A T intron_variant BRCA-EU 6 149597210 149597210 single base substitution A G intron_variant BRCA-EU 6 149599321 149599321 single base substitution A G intron_variant BRCA-EU 6 149600503 149600503 single base substitution C G intron_variant BRCA-EU 6 149602145 149602145 single base substitution C G intron_variant BRCA-EU 6 149604754 149604754 single base substitution G A intron_variant BRCA-EU 6 149604931 149604931 single base substitution G T intron_variant BRCA-EU 6 149605235 149605235 single base substitution C G intron_variant BRCA-EU 6 149608041 149608041 single base substitution C T intron_variant BRCA-EU 6 149608081 149608081 single base substitution G A intron_variant BRCA-EU 6 149608829 149608829 deletion of <=200bp T - intron_variant BRCA-EU 6 149609009 149609009 single base substitution G A intron_variant BRCA-EU 6 149609206 149609206 single base substitution A G intron_variant BRCA-EU 6 149611384 149611384 single base substitution C T intron_variant BRCA-EU 6 149611457 149611457 single base substitution C G intron_variant BRCA-EU 6 149612398 149612398 single base substitution C T intron_variant BRCA-EU 6 149612607 149612607 single base substitution G T intron_variant BRCA-EU 6 149613357 149613357 single base substitution T C intron_variant BRCA-EU 6 149614116 149614116 single base substitution G T intron_variant BRCA-EU 6 149614334 149614334 deletion of <=200bp G - intron_variant BRCA-EU 6 149614648 149614648 single base substitution T C intron_variant BRCA-EU 6 149614745 149614745 single base substitution G C intron_variant BRCA-EU 6 149615123 149615123 single base substitution G C intron_variant BRCA-EU 6 149615153 149615153 deletion of <=200bp A - intron_variant BRCA-EU 6 149615758 149615758 single base substitution C T intron_variant BRCA-EU 6 149615788 149615788 single base substitution C T intron_variant BRCA-EU 6 149617228 149617228 single base substitution T C intron_variant BRCA-EU 6 149617802 149617802 single base substitution G C intron_variant BRCA-EU 6 149617810 149617810 single base substitution G A intron_variant BRCA-EU 6 149617881 149617881 single base substitution A T intron_variant BRCA-EU 6 149618686 149618686 single base substitution G T intron_variant BRCA-EU 6 149620215 149620215 single base substitution T C intron_variant BRCA-EU 6 149620355 149620355 single base substitution G A intron_variant BRCA-EU 6 149621715 149621715 single base substitution C T intron_variant BRCA-EU 6 149622133 149622133 single base substitution C G intron_variant BRCA-EU 6 149622152 149622152 single base substitution G T intron_variant BRCA-EU 6 149622174 149622174 single base substitution G A intron_variant BRCA-EU 6 149622641 149622641 single base substitution T G intron_variant BRCA-EU 6 149624143 149624143 single base substitution T C intron_variant BRCA-EU 6 149624164 149624164 single base substitution G A intron_variant BRCA-EU 6 149625099 149625099 single base substitution G C intron_variant BRCA-EU 6 149625358 149625358 single base substitution C A intron_variant BRCA-EU 6 149625413 149625413 single base substitution G A intron_variant BRCA-EU 6 149626092 149626092 single base substitution A T intron_variant BRCA-EU 6 149629562 149629562 single base substitution A C intron_variant BRCA-EU 6 149629852 149629852 single base substitution G A intron_variant BRCA-EU 6 149631394 149631394 single base substitution G T intron_variant BRCA-EU 6 149631706 149631706 single base substitution T A intron_variant BRCA-EU 6 149631713 149631713 single base substitution A T intron_variant BRCA-EU 6 149631781 149631781 single base substitution C G intron_variant BRCA-EU 6 149632304 149632304 single base substitution C G intron_variant BRCA-EU 6 149633659 149633659 single base substitution C G intron_variant BRCA-EU 6 149635423 149635423 single base substitution G C intron_variant BRCA-EU 6 149635423 149635423 single base substitution G C upstream_gene_variant BRCA-EU 6 149635732 149635732 single base substitution C G intron_variant BRCA-EU 6 149635732 149635732 single base substitution C G upstream_gene_variant BRCA-EU 6 149636285 149636285 single base substitution C T intron_variant BRCA-EU 6 149636285 149636285 single base substitution C T upstream_gene_variant BRCA-EU 6 149637175 149637175 single base substitution G A intron_variant BRCA-EU 6 149637175 149637175 single base substitution G A upstream_gene_variant BRCA-EU 6 149638183 149638183 single base substitution C T intron_variant BRCA-EU 6 149638183 149638183 single base substitution C T upstream_gene_variant BRCA-EU 6 149640624 149640624 single base substitution G A intron_variant BRCA-EU 6 149640624 149640624 single base substitution G A upstream_gene_variant BRCA-EU 6 149644097 149644097 single base substitution G C intron_variant BRCA-EU 6 149644400 149644400 single base substitution C G intron_variant BRCA-EU 6 149644417 149644417 single base substitution G C intron_variant BRCA-EU 6 149644658 149644658 single base substitution G A intron_variant BRCA-EU 6 149645339 149645340 deletion of <=200bp AG - intron_variant BRCA-EU 6 149645464 149645465 deletion of <=200bp GA - intron_variant BRCA-EU 6 149646910 149646910 single base substitution A T intron_variant BRCA-EU 6 149648272 149648272 single base substitution G A intron_variant BRCA-EU 6 149651474 149651474 single base substitution G T intron_variant BRCA-EU 6 149652224 149652224 single base substitution T A intron_variant BRCA-EU 6 149652572 149652572 single base substitution A T intron_variant BRCA-EU 6 149653245 149653245 single base substitution G C intron_variant BRCA-EU 6 149653300 149653300 deletion of <=200bp T - intron_variant BRCA-EU 6 149653872 149653872 insertion of <=200bp - TTCAT intron_variant BRCA-EU 6 149655740 149655740 single base substitution G C intron_variant BRCA-EU 6 149655952 149655952 single base substitution G T intron_variant BRCA-EU 6 149656494 149656500 deletion of <=200bp ATATATA - intron_variant BRCA-EU 6 149659030 149659030 single base substitution G T intron_variant BRCA-EU 6 149659030 149659030 single base substitution G T upstream_gene_variant BRCA-EU 6 149659598 149659598 single base substitution G C intron_variant BRCA-EU 6 149659598 149659598 single base substitution G C upstream_gene_variant BRCA-EU 6 149659636 149659636 single base substitution G C intron_variant BRCA-EU 6 149659636 149659636 single base substitution G C upstream_gene_variant BRCA-EU 6 149662363 149662363 single base substitution A G intron_variant BRCA-EU 6 149662363 149662363 single base substitution A G upstream_gene_variant BRCA-EU 6 149662675 149662675 single base substitution G A intron_variant BRCA-EU 6 149662675 149662675 single base substitution G A upstream_gene_variant BRCA-EU 6 149665703 149665703 single base substitution G C intron_variant BRCA-EU 6 149666324 149666324 single base substitution A G intron_variant BRCA-EU 6 149666340 149666340 single base substitution C G intron_variant BRCA-EU 6 149666833 149666833 single base substitution T C intron_variant BRCA-EU 6 149667747 149667747 single base substitution G A intron_variant BRCA-EU 6 149667913 149667913 single base substitution C G intron_variant BRCA-EU 6 149668180 149668180 single base substitution A G intron_variant BRCA-EU 6 149670716 149670716 single base substitution A C downstream_gene_variant BRCA-EU 6 149670716 149670716 single base substitution A C intron_variant BRCA-EU 6 149672162 149672162 single base substitution T G downstream_gene_variant BRCA-EU 6 149672162 149672162 single base substitution T G intron_variant BRCA-EU 6 149673875 149673875 single base substitution G C intron_variant BRCA-EU 6 149675484 149675484 single base substitution G A intron_variant BRCA-EU 6 149676751 149676751 single base substitution C T intron_variant BRCA-EU 6 149676937 149676937 single base substitution C T intron_variant BRCA-EU 6 149679248 149679248 insertion of <=200bp - CA intron_variant BRCA-EU 6 149679251 149679251 single base substitution A T intron_variant BRCA-EU 6 149679252 149679252 single base substitution A T intron_variant BRCA-EU 6 149679460 149679460 single base substitution T A intron_variant BRCA-EU 6 149680818 149680818 single base substitution C G intron_variant BRCA-EU 6 149681322 149681322 deletion of <=200bp T - intron_variant BRCA-EU 6 149682117 149682117 single base substitution G C intron_variant BRCA-EU 6 149682911 149682911 single base substitution C T intron_variant BRCA-EU 6 149684324 149684324 single base substitution A T intron_variant BRCA-EU 6 149684325 149684325 single base substitution G T intron_variant BRCA-EU 6 149684426 149684426 single base substitution G C intron_variant BRCA-EU 6 149684685 149684685 insertion of <=200bp - A intron_variant BRCA-EU 6 149684702 149684702 single base substitution G C intron_variant BRCA-EU 6 149685161 149685161 single base substitution T C intron_variant BRCA-EU 6 149685910 149685910 deletion of <=200bp T - intron_variant BRCA-EU 6 149686151 149686151 single base substitution C T intron_variant BRCA-EU 6 149686151 149686151 single base substitution C T upstream_gene_variant BRCA-EU 6 149686793 149686793 single base substitution T A intron_variant BRCA-EU 6 149686793 149686793 single base substitution T A upstream_gene_variant BRCA-EU 6 149687006 149687006 single base substitution G A intron_variant BRCA-EU 6 149687006 149687006 single base substitution G A upstream_gene_variant BRCA-EU 6 149687110 149687110 single base substitution C A intron_variant BRCA-EU 6 149687110 149687110 single base substitution C A upstream_gene_variant BRCA-EU 6 149690133 149690133 single base substitution T A intron_variant BRCA-EU 6 149690133 149690133 single base substitution T A upstream_gene_variant BRCA-EU 6 149690706 149690706 single base substitution G C intron_variant BRCA-EU 6 149690706 149690706 single base substitution G C upstream_gene_variant BRCA-EU 6 149692028 149692028 single base substitution C A intron_variant BRCA-EU 6 149692521 149692521 single base substitution G T intron_variant BRCA-EU 6 149692962 149692962 deletion of <=200bp A - intron_variant BRCA-EU 6 149694532 149694532 single base substitution T C downstream_gene_variant BRCA-EU 6 149694532 149694532 single base substitution T C intron_variant BRCA-EU 6 149695728 149695728 single base substitution G A downstream_gene_variant BRCA-EU 6 149695728 149695728 single base substitution G A intron_variant BRCA-EU 6 149697598 149697598 single base substitution G A downstream_gene_variant BRCA-EU 6 149697598 149697598 single base substitution G A intron_variant BRCA-EU 6 149699616 149699616 single base substitution C T exon_variant BRCA-EU 6 149699616 149699616 single base substitution C T missense_variant R115C 343C>T BRCA-EU 6 149699616 149699616 single base substitution C T missense_variant R157C 469C>T BRCA-EU 6 149699616 149699616 single base substitution C T missense_variant R189C 565C>T BRCA-EU 6 149700100 149700100 single base substitution G A downstream_gene_variant BRCA-EU 6 149700100 149700100 single base substitution G A exon_variant BRCA-EU 6 149700100 149700100 single base substitution G A missense_variant S318N 953G>A BRCA-EU 6 149700100 149700100 single base substitution G A missense_variant S350N 1049G>A BRCA-EU 6 149701149 149701149 single base substitution G C 3_prime_UTR_variant BRCA-EU 6 149701149 149701149 single base substitution G C downstream_gene_variant BRCA-EU 6 149701149 149701149 single base substitution G C intron_variant BRCA-EU 6 149701277 149701277 single base substitution G C downstream_gene_variant BRCA-EU 6 149701277 149701277 single base substitution G C intron_variant BRCA-EU 6 149701277 149701277 single base substitution G C splice_region_variant BRCA-EU 6 149701454 149701454 single base substitution A G downstream_gene_variant BRCA-EU 6 149701454 149701454 single base substitution A G intron_variant BRCA-EU 6 149703731 149703731 single base substitution A T downstream_gene_variant BRCA-EU 6 149703731 149703731 single base substitution A T intron_variant BRCA-EU 6 149705009 149705009 single base substitution G A downstream_gene_variant BRCA-EU 6 149705009 149705009 single base substitution G A intron_variant BRCA-EU 6 149705247 149705247 single base substitution A G downstream_gene_variant BRCA-EU 6 149705247 149705247 single base substitution A G intron_variant BRCA-EU 6 149706272 149706272 single base substitution C G intron_variant BRCA-EU 6 149707415 149707417 deletion of <=200bp ATT - intron_variant BRCA-EU 6 149709648 149709648 single base substitution C T intron_variant BRCA-EU 6 149710003 149710003 single base substitution G C intron_variant BRCA-EU 6 149712466 149712466 single base substitution T A intron_variant BRCA-EU 6 149713755 149713755 single base substitution G C intron_variant BRCA-EU 6 149713778 149713778 single base substitution C T intron_variant BRCA-EU 6 149714166 149714166 single base substitution C A intron_variant BRCA-EU 6 149714166 149714166 single base substitution C A upstream_gene_variant BRCA-EU 6 149714633 149714633 single base substitution C T intron_variant BRCA-EU 6 149714633 149714633 single base substitution C T upstream_gene_variant BRCA-EU 6 149714648 149714648 single base substitution C G intron_variant BRCA-EU 6 149714648 149714648 single base substitution C G upstream_gene_variant BRCA-EU 6 149717485 149717485 single base substitution C G intron_variant BRCA-EU 6 149717485 149717485 single base substitution C G upstream_gene_variant BRCA-EU 6 149721635 149721635 single base substitution G A intron_variant BRCA-EU 6 149722075 149722075 deletion of <=200bp A - intron_variant BRCA-EU 6 149723401 149723401 single base substitution G A intron_variant BRCA-EU 6 149724884 149724884 single base substitution G T intron_variant BRCA-EU 6 149725579 149725579 single base substitution A G intron_variant BRCA-EU 6 149728437 149728437 single base substitution A G intron_variant BRCA-EU 6 149728808 149728808 single base substitution G C intron_variant BRCA-EU 6 149730204 149730204 single base substitution G A intron_variant BRCA-EU 6 149730951 149730951 single base substitution C G 3_prime_UTR_variant BRCA-EU 6 149730951 149730951 single base substitution C G downstream_gene_variant BRCA-EU 6 149731323 149731323 single base substitution T C 3_prime_UTR_variant BRCA-EU 6 149731323 149731323 single base substitution T C downstream_gene_variant BRCA-EU 6 149732118 149732118 single base substitution C G 3_prime_UTR_variant BRCA-EU 6 149732118 149732118 single base substitution C G downstream_gene_variant BRCA-EU 6 149732152 149732152 deletion of <=200bp A - 3_prime_UTR_variant BRCA-EU 6 149732152 149732152 deletion of <=200bp A - downstream_gene_variant BRCA-EU 6 149732597 149732597 single base substitution A T 3_prime_UTR_variant BRCA-EU 6 149732597 149732597 single base substitution A T downstream_gene_variant BRCA-EU 6 149734954 149734954 single base substitution G A downstream_gene_variant BRCA-EU 6 149735232 149735232 single base substitution A G downstream_gene_variant BRCA-EU 6 149735507 149735507 single base substitution C G downstream_gene_variant BRCA-EU 6 149736790 149736790 single base substitution C T downstream_gene_variant BRCA-EU 6 149737545 149737545 single base substitution G C downstream_gene_variant BRCA-FR 6 149536704 149536704 single base substitution T C upstream_gene_variant BRCA-FR 6 149542076 149542076 single base substitution C G intron_variant BRCA-FR 6 149542375 149542375 single base substitution C G intron_variant BRCA-FR 6 149546873 149546873 single base substitution T G intron_variant BRCA-FR 6 149565734 149565734 single base substitution C G intron_variant BRCA-FR 6 149568336 149568336 single base substitution C G intron_variant BRCA-FR 6 149585535 149585535 single base substitution C A intron_variant BRCA-FR 6 149591211 149591211 single base substitution C G intron_variant BRCA-FR 6 149597210 149597210 single base substitution A G intron_variant BRCA-FR 6 149608041 149608041 single base substitution C T intron_variant BRCA-FR 6 149609009 149609009 single base substitution G A intron_variant BRCA-FR 6 149614116 149614116 single base substitution G T intron_variant BRCA-FR 6 149614745 149614745 single base substitution G C intron_variant BRCA-FR 6 149615123 149615123 single base substitution G C intron_variant BRCA-FR 6 149617802 149617802 single base substitution G C intron_variant BRCA-FR 6 149622174 149622174 single base substitution G A intron_variant BRCA-FR 6 149627851 149627851 single base substitution G A intron_variant BRCA-FR 6 149631713 149631713 single base substitution A T intron_variant BRCA-FR 6 149631781 149631781 single base substitution C G intron_variant BRCA-FR 6 149636285 149636285 single base substitution C T intron_variant BRCA-FR 6 149636285 149636285 single base substitution C T upstream_gene_variant BRCA-FR 6 149644417 149644417 single base substitution G C intron_variant BRCA-FR 6 149659030 149659030 single base substitution G T intron_variant BRCA-FR 6 149659030 149659030 single base substitution G T upstream_gene_variant BRCA-FR 6 149666324 149666324 single base substitution A G intron_variant BRCA-FR 6 149666340 149666340 single base substitution C G intron_variant BRCA-FR 6 149671086 149671086 single base substitution G C downstream_gene_variant BRCA-FR 6 149671086 149671086 single base substitution G C intron_variant BRCA-FR 6 149675358 149675358 single base substitution C A intron_variant BRCA-FR 6 149687006 149687006 single base substitution G A intron_variant BRCA-FR 6 149687006 149687006 single base substitution G A upstream_gene_variant BRCA-FR 6 149699616 149699616 single base substitution C T exon_variant BRCA-FR 6 149699616 149699616 single base substitution C T missense_variant R115C 343C>T BRCA-FR 6 149699616 149699616 single base substitution C T missense_variant R157C 469C>T BRCA-FR 6 149699616 149699616 single base substitution C T missense_variant R189C 565C>T BRCA-FR 6 149705571 149705571 single base substitution G C downstream_gene_variant BRCA-FR 6 149705571 149705571 single base substitution G C intron_variant BRCA-FR 6 149706272 149706272 single base substitution C G intron_variant BRCA-FR 6 149712466 149712466 single base substitution T A intron_variant BRCA-FR 6 149733797 149733797 single base substitution G A downstream_gene_variant BRCA-FR 6 149735507 149735507 single base substitution C G downstream_gene_variant BRCA-UK 6 149556747 149556747 single base substitution C A intron_variant BRCA-UK 6 149565543 149565543 single base substitution G T intron_variant BRCA-UK 6 149577101 149577101 single base substitution C T intron_variant BRCA-UK 6 149597126 149597126 single base substitution A T intron_variant BRCA-UK 6 149602145 149602145 single base substitution C G intron_variant BRCA-UK 6 149644279 149644279 single base substitution G C intron_variant BRCA-UK 6 149652572 149652572 single base substitution A T intron_variant BRCA-UK 6 149662675 149662675 single base substitution G A intron_variant BRCA-UK 6 149662675 149662675 single base substitution G A upstream_gene_variant BRCA-UK 6 149698488 149698488 single base substitution G C downstream_gene_variant BRCA-UK 6 149698488 149698488 single base substitution G C intron_variant BRCA-UK 6 149709847 149709847 single base substitution C T intron_variant BRCA-UK 6 149721635 149721635 single base substitution G A intron_variant BRCA-UK 6 149735232 149735232 single base substitution A G downstream_gene_variant BRCA-UK 6 149737545 149737545 single base substitution G C downstream_gene_variant BRCA-US 6 149699358 149699358 insertion of <=200bp - T exon_variant BRCA-US 6 149699358 149699358 insertion of <=200bp - T frameshift_variant L103S? BRCA-US 6 149699358 149699358 insertion of <=200bp - T frameshift_variant L29S? BRCA-US 6 149699358 149699358 insertion of <=200bp - T frameshift_variant L71S? BRCA-US 6 149699979 149699979 single base substitution A G downstream_gene_variant BRCA-US 6 149699979 149699979 single base substitution A G exon_variant BRCA-US 6 149699979 149699979 single base substitution A G missense_variant S278G 832A>G BRCA-US 6 149699979 149699979 single base substitution A G missense_variant S310G 928A>G BRCA-US 6 149719091 149719091 single base substitution G T exon_variant BRCA-US 6 149719091 149719091 single base substitution G T intron_variant BTCA-JP 6 149691131 149691131 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BTCA-JP 6 149691131 149691131 single base substitution C T intron_variant CESC-US 6 149699241 149699241 single base substitution G C 5_prime_UTR_variant CESC-US 6 149699241 149699241 single base substitution G C exon_variant CESC-US 6 149699241 149699241 single base substitution G C missense_variant D32H 94G>C CESC-US 6 149699241 149699241 single base substitution G C missense_variant D64H 190G>C CESC-US 6 149699569 149699569 single base substitution G C exon_variant CESC-US 6 149699569 149699569 single base substitution G C missense_variant R141T 422G>C CESC-US 6 149699569 149699569 single base substitution G C missense_variant R173T 518G>C CESC-US 6 149699569 149699569 single base substitution G C missense_variant R99T 296G>C CESC-US 6 149700292 149700292 single base substitution G C downstream_gene_variant CESC-US 6 149700292 149700292 single base substitution G C exon_variant CESC-US 6 149700292 149700292 single base substitution G C missense_variant G382A 1145G>C CESC-US 6 149700292 149700292 single base substitution G C missense_variant G414A 1241G>C CESC-US 6 149719189 149719189 single base substitution C G 3_prime_UTR_variant CESC-US 6 149719189 149719189 single base substitution C G exon_variant CESC-US 6 149719189 149719189 single base substitution C G missense_variant Q585E 1753C>G CESC-US 6 149719189 149719189 single base substitution C G missense_variant Q617E 1849C>G CLLE-ES 6 149556722 149556722 single base substitution C G intron_variant CLLE-ES 6 149559259 149559259 single base substitution G A intron_variant CLLE-ES 6 149565245 149565245 single base substitution C T intron_variant CLLE-ES 6 149570191 149570191 single base substitution G T intron_variant CLLE-ES 6 149575111 149575111 insertion of <=200bp - AA intron_variant CLLE-ES 6 149585033 149585033 single base substitution C T intron_variant CLLE-ES 6 149586340 149586340 single base substitution T G intron_variant CLLE-ES 6 149597946 149597946 single base substitution T C intron_variant CLLE-ES 6 149597987 149597987 single base substitution G A intron_variant CLLE-ES 6 149611503 149611503 single base substitution C G intron_variant CLLE-ES 6 149677348 149677348 single base substitution A G intron_variant CLLE-ES 6 149685656 149685656 single base substitution T C intron_variant CLLE-ES 6 149711648 149711648 single base substitution T C intron_variant COAD-US 6 149699424 149699424 single base substitution G A exon_variant COAD-US 6 149699424 149699424 single base substitution G A missense_variant E125K 373G>A COAD-US 6 149699424 149699424 single base substitution G A missense_variant E51K 151G>A COAD-US 6 149699424 149699424 single base substitution G A missense_variant E93K 277G>A COAD-US 6 149699797 149699797 single base substitution A G downstream_gene_variant COAD-US 6 149699797 149699797 single base substitution A G exon_variant COAD-US 6 149699797 149699797 single base substitution A G missense_variant Q217R 650A>G COAD-US 6 149699797 149699797 single base substitution A G missense_variant Q249R 746A>G COAD-US 6 149700455 149700455 single base substitution C A downstream_gene_variant COAD-US 6 149700455 149700455 single base substitution C A exon_variant COAD-US 6 149700455 149700455 single base substitution C A synonymous_variant V436V 1308C>A COAD-US 6 149700455 149700455 single base substitution C A synonymous_variant V468V 1404C>A COAD-US 6 149718856 149718856 single base substitution C T 3_prime_UTR_variant COAD-US 6 149718856 149718856 single base substitution C T exon_variant COAD-US 6 149718856 149718856 single base substitution C T stop_gained R542* 1624C>T COAD-US 6 149718856 149718856 single base substitution C T stop_gained R574* 1720C>T COAD-US 6 149722043 149722043 deletion of <=200bp T - intron_variant COCA-CN 6 149539746 149539746 single base substitution T C upstream_gene_variant COCA-CN 6 149539774 149539774 single base substitution C A upstream_gene_variant COCA-CN 6 149548346 149548346 single base substitution T C intron_variant COCA-CN 6 149563059 149563059 single base substitution G A intron_variant COCA-CN 6 149568954 149568954 single base substitution G A intron_variant COCA-CN 6 149569596 149569596 single base substitution G A intron_variant COCA-CN 6 149569599 149569599 single base substitution G A intron_variant COCA-CN 6 149570289 149570289 single base substitution T C intron_variant COCA-CN 6 149575096 149575096 single base substitution A G intron_variant COCA-CN 6 149575098 149575098 single base substitution G A intron_variant COCA-CN 6 149575102 149575102 single base substitution G A intron_variant COCA-CN 6 149575251 149575251 single base substitution A G intron_variant COCA-CN 6 149575252 149575252 single base substitution C A intron_variant COCA-CN 6 149575259 149575259 single base substitution G A intron_variant COCA-CN 6 149575296 149575296 single base substitution G A intron_variant COCA-CN 6 149580510 149580510 single base substitution T C intron_variant COCA-CN 6 149584489 149584489 single base substitution A T intron_variant COCA-CN 6 149590664 149590664 single base substitution G T intron_variant COCA-CN 6 149590714 149590714 single base substitution C T intron_variant COCA-CN 6 149596275 149596275 single base substitution T A intron_variant COCA-CN 6 149596352 149596352 single base substitution G C intron_variant COCA-CN 6 149607513 149607513 single base substitution G A intron_variant COCA-CN 6 149607540 149607540 single base substitution C T intron_variant COCA-CN 6 149629326 149629326 single base substitution C G intron_variant COCA-CN 6 149629339 149629339 single base substitution A T intron_variant COCA-CN 6 149629353 149629353 single base substitution A C intron_variant COCA-CN 6 149629657 149629657 single base substitution C T intron_variant COCA-CN 6 149630418 149630418 single base substitution G A intron_variant COCA-CN 6 149631017 149631017 single base substitution T G intron_variant COCA-CN 6 149644698 149644698 single base substitution G A intron_variant COCA-CN 6 149650810 149650810 single base substitution C G intron_variant COCA-CN 6 149654120 149654120 single base substitution G A intron_variant COCA-CN 6 149663183 149663183 single base substitution A T intron_variant COCA-CN 6 149663183 149663183 single base substitution A T upstream_gene_variant COCA-CN 6 149678564 149678564 single base substitution A C intron_variant COCA-CN 6 149683803 149683803 single base substitution C T intron_variant COCA-CN 6 149691114 149691114 single base substitution C T 5_prime_UTR_variant COCA-CN 6 149691114 149691114 single base substitution C T intron_variant COCA-CN 6 149693346 149693346 single base substitution A T intron_variant COCA-CN 6 149697106 149697106 single base substitution C G downstream_gene_variant COCA-CN 6 149697106 149697106 single base substitution C G intron_variant COCA-CN 6 149698299 149698299 single base substitution A G downstream_gene_variant COCA-CN 6 149698299 149698299 single base substitution A G intron_variant COCA-CN 6 149700079 149700079 single base substitution C A downstream_gene_variant COCA-CN 6 149700079 149700079 single base substitution C A exon_variant COCA-CN 6 149700079 149700079 single base substitution C A missense_variant S311Y 932C>A COCA-CN 6 149700079 149700079 single base substitution C A missense_variant S343Y 1028C>A COCA-CN 6 149709413 149709413 single base substitution C T intron_variant COCA-CN 6 149710663 149710663 single base substitution T C intron_variant COCA-CN 6 149710848 149710848 single base substitution C T intron_variant COCA-CN 6 149713090 149713090 single base substitution T C intron_variant COCA-CN 6 149721154 149721154 single base substitution G A intron_variant COCA-CN 6 149730704 149730704 single base substitution T C intron_variant COCA-CN 6 149731016 149731016 single base substitution A G 3_prime_UTR_variant COCA-CN 6 149731016 149731016 single base substitution A G downstream_gene_variant COCA-CN 6 149735686 149735686 single base substitution A T downstream_gene_variant EOPC-DE 6 149544236 149544236 single base substitution A G intron_variant EOPC-DE 6 149557328 149557328 single base substitution T C intron_variant EOPC-DE 6 149671577 149671577 single base substitution A G downstream_gene_variant EOPC-DE 6 149671577 149671577 single base substitution A G intron_variant EOPC-DE 6 149677101 149677101 single base substitution A C intron_variant ESAD-UK 6 149535394 149535394 single base substitution C T upstream_gene_variant ESAD-UK 6 149535779 149535779 single base substitution G A upstream_gene_variant ESAD-UK 6 149536688 149536688 single base substitution T G upstream_gene_variant ESAD-UK 6 149536768 149536768 single base substitution A C upstream_gene_variant ESAD-UK 6 149537467 149537467 single base substitution T G upstream_gene_variant ESAD-UK 6 149538153 149538153 single base substitution C T upstream_gene_variant ESAD-UK 6 149539572 149539572 single base substitution G C upstream_gene_variant ESAD-UK 6 149540940 149540940 single base substitution C A intron_variant ESAD-UK 6 149541458 149541458 single base substitution T A intron_variant ESAD-UK 6 149541912 149541912 single base substitution C A intron_variant ESAD-UK 6 149543131 149543131 single base substitution G C intron_variant ESAD-UK 6 149545557 149545557 single base substitution A T intron_variant ESAD-UK 6 149545607 149545607 single base substitution T G intron_variant ESAD-UK 6 149547166 149547166 single base substitution A G intron_variant ESAD-UK 6 149547199 149547199 single base substitution G A intron_variant ESAD-UK 6 149549799 149549799 single base substitution C T intron_variant ESAD-UK 6 149549937 149549937 single base substitution G A intron_variant ESAD-UK 6 149550960 149550960 single base substitution A C intron_variant ESAD-UK 6 149551262 149551262 single base substitution C A intron_variant ESAD-UK 6 149552340 149552340 single base substitution A G intron_variant ESAD-UK 6 149555629 149555629 single base substitution C A intron_variant ESAD-UK 6 149558523 149558523 single base substitution G T intron_variant ESAD-UK 6 149560329 149560329 single base substitution A G intron_variant ESAD-UK 6 149562159 149562159 single base substitution C T intron_variant ESAD-UK 6 149562426 149562426 single base substitution A G intron_variant ESAD-UK 6 149563058 149563058 single base substitution C T intron_variant ESAD-UK 6 149563561 149563561 single base substitution T G intron_variant ESAD-UK 6 149563688 149563688 single base substitution A G intron_variant ESAD-UK 6 149565049 149565049 single base substitution C T intron_variant ESAD-UK 6 149565860 149565860 single base substitution A G intron_variant ESAD-UK 6 149567607 149567607 single base substitution G A intron_variant ESAD-UK 6 149569348 149569348 single base substitution C T intron_variant ESAD-UK 6 149569830 149569830 single base substitution G A intron_variant ESAD-UK 6 149570234 149570234 single base substitution C T intron_variant ESAD-UK 6 149570873 149570873 single base substitution C T intron_variant ESAD-UK 6 149570997 149570997 single base substitution C A intron_variant ESAD-UK 6 149571719 149571719 single base substitution G A intron_variant ESAD-UK 6 149571805 149571805 single base substitution T C intron_variant ESAD-UK 6 149572865 149572865 single base substitution T G intron_variant ESAD-UK 6 149573748 149573748 single base substitution A C intron_variant ESAD-UK 6 149575105 149575106 deletion of <=200bp AG - intron_variant ESAD-UK 6 149577279 149577279 deletion of <=200bp A - intron_variant ESAD-UK 6 149577946 149577946 single base substitution T G intron_variant ESAD-UK 6 149580159 149580159 deletion of <=200bp A - intron_variant ESAD-UK 6 149580214 149580214 single base substitution T G intron_variant ESAD-UK 6 149580677 149580677 single base substitution C T intron_variant ESAD-UK 6 149581100 149581100 single base substitution C A intron_variant ESAD-UK 6 149581141 149581141 single base substitution T A intron_variant ESAD-UK 6 149581309 149581309 single base substitution A T intron_variant ESAD-UK 6 149583489 149583489 single base substitution T C intron_variant ESAD-UK 6 149584932 149584932 single base substitution G A intron_variant ESAD-UK 6 149587167 149587167 single base substitution A G intron_variant ESAD-UK 6 149587856 149587856 single base substitution G A intron_variant ESAD-UK 6 149588955 149588955 single base substitution T C intron_variant ESAD-UK 6 149592281 149592281 single base substitution C T intron_variant ESAD-UK 6 149592364 149592364 single base substitution T A intron_variant ESAD-UK 6 149593299 149593299 single base substitution G C intron_variant ESAD-UK 6 149594870 149594870 single base substitution C T intron_variant ESAD-UK 6 149597868 149597868 single base substitution A G intron_variant ESAD-UK 6 149598490 149598490 single base substitution T A intron_variant ESAD-UK 6 149598890 149598890 single base substitution G A intron_variant ESAD-UK 6 149600210 149600210 insertion of <=200bp - T intron_variant ESAD-UK 6 149600353 149600353 single base substitution G A intron_variant ESAD-UK 6 149600414 149600414 single base substitution G A intron_variant ESAD-UK 6 149601799 149601799 single base substitution A C intron_variant ESAD-UK 6 149602905 149602905 single base substitution A T intron_variant ESAD-UK 6 149602919 149602919 insertion of <=200bp - A intron_variant ESAD-UK 6 149605191 149605191 single base substitution A C intron_variant ESAD-UK 6 149606119 149606119 single base substitution A C intron_variant ESAD-UK 6 149606180 149606180 single base substitution C T intron_variant ESAD-UK 6 149606778 149606778 single base substitution C T intron_variant ESAD-UK 6 149606803 149606803 single base substitution G A intron_variant ESAD-UK 6 149607069 149607069 single base substitution A G intron_variant ESAD-UK 6 149607824 149607824 single base substitution C A intron_variant ESAD-UK 6 149607940 149607940 deletion of <=200bp A - intron_variant ESAD-UK 6 149608629 149608629 single base substitution T A intron_variant ESAD-UK 6 149608630 149608630 insertion of <=200bp - A intron_variant ESAD-UK 6 149608631 149608631 single base substitution A T intron_variant ESAD-UK 6 149612768 149612768 single base substitution G A intron_variant ESAD-UK 6 149613454 149613454 single base substitution A C intron_variant ESAD-UK 6 149613777 149613777 single base substitution A C intron_variant ESAD-UK 6 149614334 149614334 deletion of <=200bp G - intron_variant ESAD-UK 6 149614357 149614357 single base substitution T C intron_variant ESAD-UK 6 149615153 149615153 deletion of <=200bp A - intron_variant ESAD-UK 6 149615160 149615160 single base substitution A C intron_variant ESAD-UK 6 149615699 149615699 single base substitution T A intron_variant ESAD-UK 6 149616885 149616885 single base substitution C G intron_variant ESAD-UK 6 149616978 149616978 single base substitution G A intron_variant ESAD-UK 6 149617772 149617772 single base substitution T A intron_variant ESAD-UK 6 149617802 149617802 single base substitution G C intron_variant ESAD-UK 6 149620275 149620275 single base substitution A C intron_variant ESAD-UK 6 149620670 149620670 single base substitution T C intron_variant ESAD-UK 6 149621909 149621909 single base substitution G T intron_variant ESAD-UK 6 149628872 149628872 single base substitution C T intron_variant ESAD-UK 6 149629905 149629905 single base substitution G A intron_variant ESAD-UK 6 149630185 149630185 single base substitution G A intron_variant ESAD-UK 6 149631706 149631706 single base substitution T A intron_variant ESAD-UK 6 149633484 149633484 insertion of <=200bp - T intron_variant ESAD-UK 6 149635474 149635474 single base substitution G A intron_variant ESAD-UK 6 149635474 149635474 single base substitution G A upstream_gene_variant ESAD-UK 6 149636375 149636375 single base substitution C T intron_variant ESAD-UK 6 149636375 149636375 single base substitution C T upstream_gene_variant ESAD-UK 6 149636803 149636803 insertion of <=200bp - T intron_variant ESAD-UK 6 149636803 149636803 insertion of <=200bp - T upstream_gene_variant ESAD-UK 6 149636884 149636884 single base substitution T C intron_variant ESAD-UK 6 149636884 149636884 single base substitution T C upstream_gene_variant ESAD-UK 6 149637077 149637077 single base substitution T A intron_variant ESAD-UK 6 149637077 149637077 single base substitution T A upstream_gene_variant ESAD-UK 6 149637773 149637773 single base substitution T C intron_variant ESAD-UK 6 149637773 149637773 single base substitution T C upstream_gene_variant ESAD-UK 6 149639705 149639705 single base substitution G A intron_variant ESAD-UK 6 149639705 149639705 single base substitution G A upstream_gene_variant ESAD-UK 6 149641589 149641589 single base substitution T C intron_variant ESAD-UK 6 149641589 149641589 single base substitution T C upstream_gene_variant ESAD-UK 6 149646982 149646982 single base substitution C T intron_variant ESAD-UK 6 149648181 149648181 single base substitution A G intron_variant ESAD-UK 6 149650874 149650874 single base substitution T G intron_variant ESAD-UK 6 149652571 149652571 single base substitution C T intron_variant ESAD-UK 6 149652717 149652717 single base substitution G A intron_variant ESAD-UK 6 149654763 149654763 single base substitution C T intron_variant ESAD-UK 6 149656578 149656578 single base substitution C T intron_variant ESAD-UK 6 149658366 149658366 single base substitution G A intron_variant ESAD-UK 6 149659135 149659135 single base substitution A G intron_variant ESAD-UK 6 149659135 149659135 single base substitution A G upstream_gene_variant ESAD-UK 6 149662919 149662919 deletion of <=200bp T - intron_variant ESAD-UK 6 149662919 149662919 deletion of <=200bp T - upstream_gene_variant ESAD-UK 6 149664005 149664005 single base substitution C T intron_variant ESAD-UK 6 149665499 149665499 single base substitution T A intron_variant ESAD-UK 6 149667217 149667217 single base substitution G C intron_variant ESAD-UK 6 149667366 149667366 single base substitution T C intron_variant ESAD-UK 6 149668651 149668651 single base substitution T C downstream_gene_variant ESAD-UK 6 149668651 149668651 single base substitution T C intron_variant ESAD-UK 6 149670110 149670110 deletion of <=200bp T - downstream_gene_variant ESAD-UK 6 149670110 149670110 deletion of <=200bp T - intron_variant ESAD-UK 6 149670283 149670283 single base substitution G T downstream_gene_variant ESAD-UK 6 149670283 149670283 single base substitution G T intron_variant ESAD-UK 6 149671097 149671097 single base substitution T G downstream_gene_variant ESAD-UK 6 149671097 149671097 single base substitution T G intron_variant ESAD-UK 6 149671644 149671644 single base substitution T A downstream_gene_variant ESAD-UK 6 149671644 149671644 single base substitution T A intron_variant ESAD-UK 6 149672766 149672766 single base substitution A G downstream_gene_variant ESAD-UK 6 149672766 149672766 single base substitution A G intron_variant ESAD-UK 6 149673797 149673797 single base substitution A G intron_variant ESAD-UK 6 149675049 149675049 single base substitution G A intron_variant ESAD-UK 6 149681163 149681175 deletion of <=200bp ATACCAGTAATAA - intron_variant ESAD-UK 6 149681322 149681322 deletion of <=200bp T - intron_variant ESAD-UK 6 149681411 149681411 single base substitution A G intron_variant ESAD-UK 6 149688090 149688090 single base substitution A C intron_variant ESAD-UK 6 149688090 149688090 single base substitution A C upstream_gene_variant ESAD-UK 6 149689940 149689940 single base substitution G A intron_variant ESAD-UK 6 149689940 149689940 single base substitution G A upstream_gene_variant ESAD-UK 6 149689964 149689964 single base substitution T C intron_variant ESAD-UK 6 149689964 149689964 single base substitution T C upstream_gene_variant ESAD-UK 6 149692782 149692782 single base substitution A T intron_variant ESAD-UK 6 149695163 149695163 single base substitution A C downstream_gene_variant ESAD-UK 6 149695163 149695163 single base substitution A C intron_variant ESAD-UK 6 149697341 149697341 single base substitution G A downstream_gene_variant ESAD-UK 6 149697341 149697341 single base substitution G A intron_variant ESAD-UK 6 149700131 149700131 single base substitution A T downstream_gene_variant ESAD-UK 6 149700131 149700131 single base substitution A T exon_variant ESAD-UK 6 149700131 149700131 single base substitution A T missense_variant L328F 984A>T ESAD-UK 6 149700131 149700131 single base substitution A T missense_variant L360F 1080A>T ESAD-UK 6 149700954 149700954 single base substitution G C downstream_gene_variant ESAD-UK 6 149700954 149700954 single base substitution G C intron_variant ESAD-UK 6 149701407 149701407 single base substitution T A downstream_gene_variant ESAD-UK 6 149701407 149701407 single base substitution T A intron_variant ESAD-UK 6 149703500 149703500 single base substitution G A downstream_gene_variant ESAD-UK 6 149703500 149703500 single base substitution G A intron_variant ESAD-UK 6 149718310 149718310 single base substitution G T intron_variant ESAD-UK 6 149718310 149718310 single base substitution G T upstream_gene_variant ESAD-UK 6 149719490 149719490 single base substitution T G intron_variant ESAD-UK 6 149719904 149719904 single base substitution G A intron_variant ESAD-UK 6 149721819 149721819 single base substitution G T intron_variant ESAD-UK 6 149723001 149723001 single base substitution A G intron_variant ESAD-UK 6 149725225 149725225 single base substitution C A intron_variant ESAD-UK 6 149725236 149725236 single base substitution G A intron_variant ESAD-UK 6 149731095 149731095 single base substitution A G 3_prime_UTR_variant ESAD-UK 6 149731095 149731095 single base substitution A G downstream_gene_variant ESAD-UK 6 149733182 149733182 single base substitution G A downstream_gene_variant ESAD-UK 6 149733377 149733377 deletion of <=200bp T - downstream_gene_variant ESAD-UK 6 149734385 149734385 single base substitution T A downstream_gene_variant ESAD-UK 6 149735048 149735048 single base substitution A G downstream_gene_variant ESAD-UK 6 149736695 149736695 single base substitution G A downstream_gene_variant ESAD-UK 6 149737280 149737280 single base substitution A G downstream_gene_variant GBM-US 6 149699411 149699411 single base substitution A G exon_variant GBM-US 6 149699411 149699411 single base substitution A G synonymous_variant E120E 360A>G GBM-US 6 149699411 149699411 single base substitution A G synonymous_variant E46E 138A>G GBM-US 6 149699411 149699411 single base substitution A G synonymous_variant E88E 264A>G KIRC-US 6 149691195 149691195 single base substitution C G exon_variant KIRC-US 6 149691195 149691195 single base substitution C G intron_variant KIRC-US 6 149691195 149691195 single base substitution C G missense_variant P21R 62C>G KIRC-US 6 149699871 149699871 insertion of <=200bp - T downstream_gene_variant KIRC-US 6 149699871 149699871 insertion of <=200bp - T exon_variant KIRC-US 6 149699871 149699871 insertion of <=200bp - T frameshift_variant N242*? KIRC-US 6 149699871 149699871 insertion of <=200bp - T frameshift_variant N274*? LAML-KR 6 149702727 149702727 single base substitution T G downstream_gene_variant LAML-KR 6 149702727 149702727 single base substitution T G intron_variant LAML-KR 6 149725073 149725073 single base substitution A G intron_variant LICA-FR 6 149554918 149554918 single base substitution A G intron_variant LICA-FR 6 149580271 149580271 single base substitution A G intron_variant LICA-FR 6 149584093 149584093 single base substitution T C intron_variant LICA-FR 6 149602068 149602068 deletion of <=200bp A - intron_variant LICA-FR 6 149647408 149647409 deletion of <=200bp AA - intron_variant LICA-FR 6 149654845 149654845 insertion of <=200bp - GT intron_variant LICA-FR 6 149689782 149689782 insertion of <=200bp - TGTGTG intron_variant LICA-FR 6 149689782 149689782 insertion of <=200bp - TGTGTG upstream_gene_variant LICA-FR 6 149700257 149700257 single base substitution G C downstream_gene_variant LICA-FR 6 149700257 149700257 single base substitution G C exon_variant LICA-FR 6 149700257 149700257 single base substitution G C synonymous_variant R370R 1110G>C LICA-FR 6 149700257 149700257 single base substitution G C synonymous_variant R402R 1206G>C LICA-FR 6 149700482 149700482 single base substitution A G downstream_gene_variant LICA-FR 6 149700482 149700482 single base substitution A G exon_variant LICA-FR 6 149700482 149700482 single base substitution A G synonymous_variant S445S 1335A>G LICA-FR 6 149700482 149700482 single base substitution A G synonymous_variant S477S 1431A>G LICA-FR 6 149720296 149720296 single base substitution G A 3_prime_UTR_variant LICA-FR 6 149720296 149720296 single base substitution G A exon_variant LICA-FR 6 149720296 149720296 single base substitution G A missense_variant G607S 1819G>A LICA-FR 6 149720296 149720296 single base substitution G A missense_variant G639S 1915G>A LICA-FR 6 149724439 149724439 single base substitution T C intron_variant LICA-FR 6 149727552 149727552 single base substitution T C intron_variant LICA-FR 6 149731209 149731209 single base substitution G T 3_prime_UTR_variant LICA-FR 6 149731209 149731209 single base substitution G T downstream_gene_variant LINC-JP 6 149540709 149540709 single base substitution C A intron_variant LINC-JP 6 149555492 149555492 single base substitution G A intron_variant LINC-JP 6 149560926 149560926 single base substitution C A intron_variant LINC-JP 6 149560927 149560927 single base substitution C T intron_variant LINC-JP 6 149575589 149575589 single base substitution T A intron_variant LINC-JP 6 149592353 149592353 single base substitution T C intron_variant LINC-JP 6 149596124 149596124 single base substitution C A intron_variant LINC-JP 6 149616504 149616504 single base substitution A G intron_variant LINC-JP 6 149622415 149622415 single base substitution C A intron_variant LINC-JP 6 149630409 149630409 insertion of <=200bp - TTTACATATAC intron_variant LINC-JP 6 149632943 149632943 deletion of <=200bp A - intron_variant LINC-JP 6 149637367 149637367 single base substitution T C intron_variant LINC-JP 6 149637367 149637367 single base substitution T C upstream_gene_variant LINC-JP 6 149640532 149640532 single base substitution A G intron_variant LINC-JP 6 149640532 149640532 single base substitution A G upstream_gene_variant LINC-JP 6 149645064 149645064 single base substitution T C intron_variant LINC-JP 6 149646796 149646796 single base substitution A G intron_variant LINC-JP 6 149653921 149653921 single base substitution A G intron_variant LINC-JP 6 149678319 149678319 single base substitution T C intron_variant LINC-JP 6 149686466 149686466 single base substitution A G intron_variant LINC-JP 6 149686466 149686466 single base substitution A G upstream_gene_variant LINC-JP 6 149688042 149688042 single base substitution T A intron_variant LINC-JP 6 149688042 149688042 single base substitution T A upstream_gene_variant LINC-JP 6 149693178 149693178 single base substitution C G intron_variant LINC-JP 6 149694574 149694574 single base substitution A G downstream_gene_variant LINC-JP 6 149694574 149694574 single base substitution A G intron_variant LINC-JP 6 149699973 149699973 single base substitution G T downstream_gene_variant LINC-JP 6 149699973 149699973 single base substitution G T exon_variant LINC-JP 6 149699973 149699973 single base substitution G T missense_variant A276S 826G>T LINC-JP 6 149699973 149699973 single base substitution G T missense_variant A308S 922G>T LINC-JP 6 149699986 149699986 single base substitution A G downstream_gene_variant LINC-JP 6 149699986 149699986 single base substitution A G exon_variant LINC-JP 6 149699986 149699986 single base substitution A G missense_variant Y280C 839A>G LINC-JP 6 149699986 149699986 single base substitution A G missense_variant Y312C 935A>G LINC-JP 6 149700402 149700402 single base substitution C T downstream_gene_variant LINC-JP 6 149700402 149700402 single base substitution C T exon_variant LINC-JP 6 149700402 149700402 single base substitution C T missense_variant P419S 1255C>T LINC-JP 6 149700402 149700402 single base substitution C T missense_variant P451S 1351C>T LINC-JP 6 149716842 149716842 deletion of <=200bp T - intron_variant LINC-JP 6 149716842 149716842 deletion of <=200bp T - upstream_gene_variant LINC-JP 6 149719088 149719088 single base substitution A G exon_variant LINC-JP 6 149719088 149719088 single base substitution A G intron_variant LINC-JP 6 149720204 149720204 single base substitution A G intron_variant LINC-JP 6 149721483 149721483 single base substitution C T intron_variant LINC-JP 6 149721635 149721635 single base substitution G A intron_variant LINC-JP 6 149727915 149727915 single base substitution C T intron_variant LINC-JP 6 149730848 149730848 single base substitution A G 3_prime_UTR_variant LINC-JP 6 149730848 149730848 single base substitution A G downstream_gene_variant LINC-JP 6 149730848 149730848 single base substitution A G missense_variant H660R 1979A>G LINC-JP 6 149730848 149730848 single base substitution A G missense_variant H692R 2075A>G LINC-JP 6 149732024 149732024 deletion of <=200bp T - 3_prime_UTR_variant LINC-JP 6 149732024 149732024 deletion of <=200bp T - downstream_gene_variant LIRI-JP 6 149535966 149535966 single base substitution C T upstream_gene_variant LIRI-JP 6 149539308 149539308 single base substitution G A upstream_gene_variant LIRI-JP 6 149540343 149540343 single base substitution T C intron_variant LIRI-JP 6 149540605 149540605 single base substitution G T intron_variant LIRI-JP 6 149540859 149540859 single base substitution T C intron_variant LIRI-JP 6 149541663 149541663 single base substitution T A intron_variant LIRI-JP 6 149542987 149542987 single base substitution C T intron_variant LIRI-JP 6 149544199 149544199 single base substitution T C intron_variant LIRI-JP 6 149545389 149545389 single base substitution A T intron_variant LIRI-JP 6 149547726 149547726 single base substitution G C intron_variant LIRI-JP 6 149549715 149549715 single base substitution A T intron_variant LIRI-JP 6 149554504 149554504 single base substitution G A intron_variant LIRI-JP 6 149555632 149555632 single base substitution A G intron_variant LIRI-JP 6 149559768 149559768 single base substitution G A intron_variant LIRI-JP 6 149560712 149560712 single base substitution G A intron_variant LIRI-JP 6 149560942 149560942 single base substitution A G intron_variant LIRI-JP 6 149562451 149562451 deletion of <=200bp C - intron_variant LIRI-JP 6 149568200 149568200 single base substitution G A intron_variant LIRI-JP 6 149568772 149568772 single base substitution C T intron_variant LIRI-JP 6 149569149 149569149 single base substitution A G intron_variant LIRI-JP 6 149569478 149569478 single base substitution A C intron_variant LIRI-JP 6 149569541 149569541 single base substitution C A intron_variant LIRI-JP 6 149570177 149570177 single base substitution T A intron_variant LIRI-JP 6 149572718 149572718 single base substitution G T intron_variant LIRI-JP 6 149573267 149573267 single base substitution G T intron_variant LIRI-JP 6 149573953 149573953 single base substitution C T intron_variant LIRI-JP 6 149575636 149575636 single base substitution C A intron_variant LIRI-JP 6 149578221 149578221 single base substitution T C intron_variant LIRI-JP 6 149578495 149578495 single base substitution T A intron_variant LIRI-JP 6 149578721 149578721 single base substitution T A intron_variant LIRI-JP 6 149578765 149578765 single base substitution C A intron_variant LIRI-JP 6 149581795 149581795 single base substitution G T intron_variant LIRI-JP 6 149584433 149584433 single base substitution C T intron_variant LIRI-JP 6 149585528 149585528 single base substitution C A intron_variant LIRI-JP 6 149585550 149585550 single base substitution G T intron_variant LIRI-JP 6 149588541 149588541 single base substitution A T intron_variant LIRI-JP 6 149588948 149588948 single base substitution A G intron_variant LIRI-JP 6 149589345 149589345 single base substitution C T intron_variant LIRI-JP 6 149589348 149589348 single base substitution G T intron_variant LIRI-JP 6 149590925 149590925 single base substitution G A intron_variant LIRI-JP 6 149591705 149591705 single base substitution A T intron_variant LIRI-JP 6 149592009 149592009 single base substitution G A intron_variant LIRI-JP 6 149593184 149593184 single base substitution T C intron_variant LIRI-JP 6 149593419 149593419 single base substitution T C intron_variant LIRI-JP 6 149594176 149594176 single base substitution C T intron_variant LIRI-JP 6 149600356 149600356 single base substitution A G intron_variant LIRI-JP 6 149602026 149602026 single base substitution C G intron_variant LIRI-JP 6 149602232 149602232 single base substitution T C intron_variant LIRI-JP 6 149605610 149605610 single base substitution T A intron_variant LIRI-JP 6 149605999 149605999 single base substitution T C intron_variant LIRI-JP 6 149606774 149606774 insertion of <=200bp - T intron_variant LIRI-JP 6 149608964 149608964 single base substitution C G intron_variant LIRI-JP 6 149610874 149610874 single base substitution A G intron_variant LIRI-JP 6 149612373 149612373 single base substitution T A intron_variant LIRI-JP 6 149617102 149617102 single base substitution T C intron_variant LIRI-JP 6 149618634 149618634 single base substitution T A intron_variant LIRI-JP 6 149618837 149618837 single base substitution T G intron_variant LIRI-JP 6 149619844 149619844 single base substitution T C intron_variant LIRI-JP 6 149620734 149620734 single base substitution A G intron_variant LIRI-JP 6 149621841 149621841 single base substitution G A intron_variant LIRI-JP 6 149625540 149625540 single base substitution G C intron_variant LIRI-JP 6 149627567 149627567 single base substitution T C intron_variant LIRI-JP 6 149629353 149629353 single base substitution A T intron_variant LIRI-JP 6 149631104 149631104 single base substitution T C intron_variant LIRI-JP 6 149631620 149631620 single base substitution T C intron_variant LIRI-JP 6 149632543 149632543 single base substitution T G intron_variant LIRI-JP 6 149633981 149633981 single base substitution A T intron_variant LIRI-JP 6 149634394 149634394 single base substitution C T intron_variant LIRI-JP 6 149634394 149634394 single base substitution C T upstream_gene_variant LIRI-JP 6 149635864 149635864 single base substitution G A intron_variant LIRI-JP 6 149635864 149635864 single base substitution G A upstream_gene_variant LIRI-JP 6 149641330 149641330 single base substitution A T intron_variant LIRI-JP 6 149641330 149641330 single base substitution A T upstream_gene_variant LIRI-JP 6 149642213 149642213 single base substitution T C 5_prime_UTR_variant LIRI-JP 6 149642213 149642213 single base substitution T C intron_variant LIRI-JP 6 149643256 149643256 single base substitution C T intron_variant LIRI-JP 6 149645064 149645064 single base substitution T C intron_variant LIRI-JP 6 149647385 149647385 single base substitution G T intron_variant LIRI-JP 6 149650202 149650225 deletion of <=200bp GTGAGGTGGAAAATTAGAAAAAAG - intron_variant LIRI-JP 6 149651114 149651114 single base substitution T G intron_variant LIRI-JP 6 149653160 149653160 single base substitution A G intron_variant LIRI-JP 6 149654818 149654818 single base substitution A G intron_variant LIRI-JP 6 149654927 149654927 single base substitution G A intron_variant LIRI-JP 6 149655095 149655095 single base substitution G T intron_variant LIRI-JP 6 149656304 149656304 single base substitution T C intron_variant LIRI-JP 6 149656529 149656529 single base substitution G A intron_variant LIRI-JP 6 149656666 149656666 single base substitution G A intron_variant LIRI-JP 6 149657088 149657088 single base substitution A G intron_variant LIRI-JP 6 149662051 149662065 deletion of <=200bp AGAGAGGGTGTAATC - intron_variant LIRI-JP 6 149662051 149662065 deletion of <=200bp AGAGAGGGTGTAATC - upstream_gene_variant LIRI-JP 6 149663542 149663542 single base substitution T C intron_variant LIRI-JP 6 149663542 149663542 single base substitution T C upstream_gene_variant LIRI-JP 6 149664755 149664756 deletion of <=200bp AT - intron_variant LIRI-JP 6 149664765 149664765 single base substitution T G intron_variant LIRI-JP 6 149669043 149669043 single base substitution T C downstream_gene_variant LIRI-JP 6 149669043 149669043 single base substitution T C intron_variant LIRI-JP 6 149672860 149672860 single base substitution A G downstream_gene_variant LIRI-JP 6 149672860 149672860 single base substitution A G intron_variant LIRI-JP 6 149674944 149674944 single base substitution A G intron_variant LIRI-JP 6 149676294 149676294 single base substitution T G intron_variant LIRI-JP 6 149677643 149677643 single base substitution A G intron_variant LIRI-JP 6 149677669 149677669 single base substitution T C intron_variant LIRI-JP 6 149678209 149678209 single base substitution A T intron_variant LIRI-JP 6 149678723 149678723 single base substitution A T intron_variant LIRI-JP 6 149679024 149679024 single base substitution A T intron_variant LIRI-JP 6 149679101 149679101 single base substitution T G intron_variant LIRI-JP 6 149683039 149683039 single base substitution A T intron_variant LIRI-JP 6 149683092 149683092 single base substitution C T intron_variant LIRI-JP 6 149684713 149684713 single base substitution C G intron_variant LIRI-JP 6 149685139 149685139 single base substitution A G intron_variant LIRI-JP 6 149686432 149686432 deletion of <=200bp T - intron_variant LIRI-JP 6 149686432 149686432 deletion of <=200bp T - upstream_gene_variant LIRI-JP 6 149690959 149690959 single base substitution T A intron_variant LIRI-JP 6 149690959 149690959 single base substitution T A upstream_gene_variant LIRI-JP 6 149693332 149693332 single base substitution G A intron_variant LIRI-JP 6 149694054 149694054 single base substitution C T downstream_gene_variant LIRI-JP 6 149694054 149694054 single base substitution C T intron_variant LIRI-JP 6 149694181 149694181 single base substitution A G downstream_gene_variant LIRI-JP 6 149694181 149694181 single base substitution A G intron_variant LIRI-JP 6 149694955 149694955 single base substitution A G downstream_gene_variant LIRI-JP 6 149694955 149694955 single base substitution A G intron_variant LIRI-JP 6 149696401 149696401 single base substitution A G downstream_gene_variant LIRI-JP 6 149696401 149696401 single base substitution A G intron_variant LIRI-JP 6 149696751 149696751 single base substitution A G downstream_gene_variant LIRI-JP 6 149696751 149696751 single base substitution A G intron_variant LIRI-JP 6 149698481 149698481 single base substitution A G downstream_gene_variant LIRI-JP 6 149698481 149698481 single base substitution A G intron_variant LIRI-JP 6 149701630 149701630 single base substitution T A downstream_gene_variant LIRI-JP 6 149701630 149701630 single base substitution T A intron_variant LIRI-JP 6 149705173 149705173 single base substitution A G downstream_gene_variant LIRI-JP 6 149705173 149705173 single base substitution A G intron_variant LIRI-JP 6 149706295 149706295 single base substitution A T intron_variant LIRI-JP 6 149709041 149709041 single base substitution A T intron_variant LIRI-JP 6 149710262 149710262 single base substitution T G intron_variant LIRI-JP 6 149712657 149712657 single base substitution A G intron_variant LIRI-JP 6 149716149 149716149 single base substitution G A intron_variant LIRI-JP 6 149716149 149716149 single base substitution G A upstream_gene_variant LIRI-JP 6 149718738 149718738 single base substitution A G splice_acceptor_variant LIRI-JP 6 149718738 149718738 single base substitution A G upstream_gene_variant LIRI-JP 6 149719545 149719545 single base substitution A C intron_variant LIRI-JP 6 149721793 149721793 single base substitution A T intron_variant LIRI-JP 6 149721990 149721990 deletion of <=200bp A - intron_variant LIRI-JP 6 149722768 149722768 single base substitution A G intron_variant LIRI-JP 6 149723396 149723396 single base substitution A G intron_variant LIRI-JP 6 149725636 149725636 single base substitution A G intron_variant LIRI-JP 6 149726403 149726403 single base substitution A G intron_variant LIRI-JP 6 149727212 149727212 single base substitution A T intron_variant LIRI-JP 6 149728322 149728322 insertion of <=200bp - T intron_variant LIRI-JP 6 149730125 149730125 single base substitution A G intron_variant LIRI-JP 6 149731746 149731746 single base substitution A G 3_prime_UTR_variant LIRI-JP 6 149731746 149731746 single base substitution A G downstream_gene_variant LIRI-JP 6 149732907 149732907 single base substitution C A downstream_gene_variant LIRI-JP 6 149733649 149733649 single base substitution A T downstream_gene_variant LIRI-JP 6 149733997 149733997 single base substitution C T downstream_gene_variant LIRI-JP 6 149734289 149734289 single base substitution C A downstream_gene_variant LIRI-JP 6 149734787 149734787 single base substitution C T downstream_gene_variant LIRI-JP 6 149736466 149736466 single base substitution G A downstream_gene_variant LIRI-JP 6 149737388 149737388 single base substitution T G downstream_gene_variant LUSC-KR 6 149535353 149535353 single base substitution C T upstream_gene_variant LUSC-KR 6 149540866 149540866 single base substitution G T intron_variant LUSC-KR 6 149543874 149543874 single base substitution C G intron_variant LUSC-KR 6 149544153 149544153 single base substitution G A intron_variant LUSC-KR 6 149544605 149544605 single base substitution C T intron_variant LUSC-KR 6 149550059 149550059 single base substitution A G intron_variant LUSC-KR 6 149555497 149555497 single base substitution A T intron_variant LUSC-KR 6 149556108 149556108 single base substitution T C intron_variant LUSC-KR 6 149557469 149557469 single base substitution G T intron_variant LUSC-KR 6 149563382 149563382 single base substitution C T intron_variant LUSC-KR 6 149563623 149563623 single base substitution C G intron_variant LUSC-KR 6 149569588 149569588 single base substitution A G intron_variant LUSC-KR 6 149569591 149569591 single base substitution A G intron_variant LUSC-KR 6 149569783 149569783 single base substitution G T intron_variant LUSC-KR 6 149578964 149578964 single base substitution C T intron_variant LUSC-KR 6 149580856 149580856 single base substitution A T intron_variant LUSC-KR 6 149588442 149588442 single base substitution A G intron_variant LUSC-KR 6 149591356 149591356 single base substitution T C intron_variant LUSC-KR 6 149591874 149591874 single base substitution G C intron_variant LUSC-KR 6 149596316 149596316 single base substitution C G intron_variant LUSC-KR 6 149600663 149600663 single base substitution T C intron_variant LUSC-KR 6 149602117 149602117 single base substitution C G intron_variant LUSC-KR 6 149602233 149602233 single base substitution A G intron_variant LUSC-KR 6 149602653 149602653 single base substitution T A intron_variant LUSC-KR 6 149605493 149605493 single base substitution G A intron_variant LUSC-KR 6 149614412 149614412 single base substitution G C intron_variant LUSC-KR 6 149617494 149617494 single base substitution C A intron_variant LUSC-KR 6 149617495 149617495 single base substitution C A intron_variant LUSC-KR 6 149618765 149618765 single base substitution A T intron_variant LUSC-KR 6 149618934 149618934 single base substitution G T intron_variant LUSC-KR 6 149621318 149621318 single base substitution T C intron_variant LUSC-KR 6 149626837 149626837 single base substitution A T intron_variant LUSC-KR 6 149630656 149630656 single base substitution C A intron_variant LUSC-KR 6 149630689 149630689 single base substitution C T intron_variant LUSC-KR 6 149638776 149638776 single base substitution T G intron_variant LUSC-KR 6 149638776 149638776 single base substitution T G upstream_gene_variant LUSC-KR 6 149653552 149653552 single base substitution G T intron_variant LUSC-KR 6 149659573 149659573 single base substitution T C intron_variant LUSC-KR 6 149659573 149659573 single base substitution T C upstream_gene_variant LUSC-KR 6 149666092 149666092 single base substitution C T intron_variant LUSC-KR 6 149667607 149667607 single base substitution G T intron_variant LUSC-KR 6 149667607 149667607 single base substitution G T splice_region_variant LUSC-KR 6 149675416 149675416 single base substitution G A intron_variant LUSC-KR 6 149679867 149679867 single base substitution T C intron_variant LUSC-KR 6 149682718 149682718 single base substitution G T intron_variant LUSC-KR 6 149700118 149700118 single base substitution A G downstream_gene_variant LUSC-KR 6 149700118 149700118 single base substitution A G exon_variant LUSC-KR 6 149700118 149700118 single base substitution A G missense_variant N324S 971A>G LUSC-KR 6 149700118 149700118 single base substitution A G missense_variant N356S 1067A>G LUSC-KR 6 149703753 149703753 single base substitution C A downstream_gene_variant LUSC-KR 6 149703753 149703753 single base substitution C A intron_variant LUSC-KR 6 149710947 149710947 single base substitution G C intron_variant LUSC-KR 6 149713832 149713832 single base substitution T C intron_variant LUSC-KR 6 149713832 149713832 single base substitution T C upstream_gene_variant LUSC-KR 6 149721632 149721632 single base substitution G C intron_variant LUSC-KR 6 149731737 149731737 single base substitution A T 3_prime_UTR_variant LUSC-KR 6 149731737 149731737 single base substitution A T downstream_gene_variant LUSC-US 6 149699963 149699963 single base substitution A G downstream_gene_variant LUSC-US 6 149699963 149699963 single base substitution A G exon_variant LUSC-US 6 149699963 149699963 single base substitution A G synonymous_variant S272S 816A>G LUSC-US 6 149699963 149699963 single base substitution A G synonymous_variant S304S 912A>G LUSC-US 6 149700403 149700403 single base substitution C A downstream_gene_variant LUSC-US 6 149700403 149700403 single base substitution C A exon_variant LUSC-US 6 149700403 149700403 single base substitution C A missense_variant P419H 1256C>A LUSC-US 6 149700403 149700403 single base substitution C A missense_variant P451H 1352C>A LUSC-US 6 149700431 149700431 single base substitution G A downstream_gene_variant LUSC-US 6 149700431 149700431 single base substitution G A exon_variant LUSC-US 6 149700431 149700431 single base substitution G A synonymous_variant T428T 1284G>A LUSC-US 6 149700431 149700431 single base substitution G A synonymous_variant T460T 1380G>A MALY-DE 6 149536326 149536326 single base substitution G C upstream_gene_variant MALY-DE 6 149549313 149549313 single base substitution A T intron_variant MALY-DE 6 149557530 149557530 single base substitution A G intron_variant MALY-DE 6 149563243 149563243 single base substitution G T intron_variant MALY-DE 6 149575259 149575259 single base substitution G A intron_variant MALY-DE 6 149587484 149587484 single base substitution C G intron_variant MALY-DE 6 149589825 149589825 single base substitution A T intron_variant MALY-DE 6 149600593 149600593 single base substitution G A intron_variant MALY-DE 6 149603316 149603316 single base substitution A C intron_variant MALY-DE 6 149615036 149615036 single base substitution T A intron_variant MALY-DE 6 149629511 149629511 single base substitution T A intron_variant MALY-DE 6 149630418 149630418 single base substitution G A intron_variant MALY-DE 6 149640211 149640211 single base substitution A T intron_variant MALY-DE 6 149640211 149640211 single base substitution A T upstream_gene_variant MALY-DE 6 149643953 149643953 single base substitution C T intron_variant MALY-DE 6 149653534 149653534 single base substitution C G intron_variant MALY-DE 6 149656600 149656600 single base substitution T G intron_variant MALY-DE 6 149664998 149664998 single base substitution T G intron_variant MALY-DE 6 149668901 149668901 single base substitution A G downstream_gene_variant MALY-DE 6 149668901 149668901 single base substitution A G intron_variant MALY-DE 6 149688625 149688625 single base substitution G A intron_variant MALY-DE 6 149688625 149688625 single base substitution G A upstream_gene_variant MALY-DE 6 149692328 149692328 single base substitution A T intron_variant MALY-DE 6 149713177 149713177 single base substitution G A intron_variant MALY-DE 6 149716618 149716618 single base substitution C G intron_variant MALY-DE 6 149716618 149716618 single base substitution C G upstream_gene_variant MALY-DE 6 149730278 149730278 insertion of <=200bp - A intron_variant MELA-AU 6 149535096 149535096 single base substitution C T upstream_gene_variant MELA-AU 6 149535484 149535484 single base substitution C T upstream_gene_variant MELA-AU 6 149535718 149535718 single base substitution C T upstream_gene_variant MELA-AU 6 149536102 149536102 single base substitution C T upstream_gene_variant MELA-AU 6 149536318 149536318 single base substitution C T upstream_gene_variant MELA-AU 6 149537218 149537218 single base substitution C T upstream_gene_variant MELA-AU 6 149537323 149537323 single base substitution G A upstream_gene_variant MELA-AU 6 149537525 149537525 single base substitution C T upstream_gene_variant MELA-AU 6 149537701 149537701 single base substitution G A upstream_gene_variant MELA-AU 6 149537747 149537747 single base substitution C T upstream_gene_variant MELA-AU 6 149538145 149538145 single base substitution C T upstream_gene_variant MELA-AU 6 149538392 149538392 single base substitution C T upstream_gene_variant MELA-AU 6 149538525 149538525 single base substitution C T upstream_gene_variant MELA-AU 6 149539246 149539246 single base substitution G A upstream_gene_variant MELA-AU 6 149539337 149539337 single base substitution C T upstream_gene_variant MELA-AU 6 149539479 149539479 single base substitution G A upstream_gene_variant MELA-AU 6 149539594 149539594 single base substitution G A upstream_gene_variant MELA-AU 6 149539618 149539618 single base substitution G A upstream_gene_variant MELA-AU 6 149539724 149539724 single base substitution G A upstream_gene_variant MELA-AU 6 149539791 149539791 single base substitution C T 5_prime_UTR_variant MELA-AU 6 149539824 149539824 single base substitution C T 5_prime_UTR_variant MELA-AU 6 149540095 149540095 single base substitution C T intron_variant MELA-AU 6 149540877 149540877 single base substitution C T intron_variant MELA-AU 6 149541090 149541090 single base substitution C A intron_variant MELA-AU 6 149541107 149541107 single base substitution G A intron_variant MELA-AU 6 149541507 149541507 single base substitution C T intron_variant MELA-AU 6 149541544 149541544 single base substitution C T intron_variant MELA-AU 6 149541568 149541569 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 149541788 149541788 single base substitution C A intron_variant MELA-AU 6 149542135 149542135 single base substitution C T intron_variant MELA-AU 6 149543088 149543088 single base substitution G A intron_variant MELA-AU 6 149543168 149543168 single base substitution C T intron_variant MELA-AU 6 149543189 149543189 single base substitution C T intron_variant MELA-AU 6 149543384 149543384 single base substitution C T intron_variant MELA-AU 6 149543783 149543783 single base substitution C T intron_variant MELA-AU 6 149544548 149544548 single base substitution G A intron_variant MELA-AU 6 149544912 149544912 single base substitution C T intron_variant MELA-AU 6 149545322 149545322 single base substitution G A intron_variant MELA-AU 6 149545575 149545575 single base substitution C T intron_variant MELA-AU 6 149545886 149545886 single base substitution C T intron_variant MELA-AU 6 149546280 149546280 single base substitution C T intron_variant MELA-AU 6 149546303 149546303 single base substitution G A intron_variant MELA-AU 6 149546576 149546576 single base substitution G A intron_variant MELA-AU 6 149546591 149546591 single base substitution C T intron_variant MELA-AU 6 149546955 149546955 single base substitution G A intron_variant MELA-AU 6 149547175 149547175 single base substitution A T intron_variant MELA-AU 6 149547560 149547560 single base substitution C T intron_variant MELA-AU 6 149547648 149547648 single base substitution G A intron_variant MELA-AU 6 149547654 149547654 single base substitution T A intron_variant MELA-AU 6 149547830 149547830 single base substitution C T intron_variant MELA-AU 6 149548697 149548697 single base substitution G A intron_variant MELA-AU 6 149549037 149549037 single base substitution A G intron_variant MELA-AU 6 149550157 149550157 single base substitution C T intron_variant MELA-AU 6 149550230 149550230 single base substitution C T intron_variant MELA-AU 6 149550554 149550554 single base substitution G T intron_variant MELA-AU 6 149550556 149550556 single base substitution T G intron_variant MELA-AU 6 149550785 149550785 single base substitution C T intron_variant MELA-AU 6 149551164 149551164 single base substitution C T intron_variant MELA-AU 6 149552722 149552722 single base substitution G A intron_variant MELA-AU 6 149553130 149553130 single base substitution G A intron_variant MELA-AU 6 149553255 149553255 single base substitution G A intron_variant MELA-AU 6 149553394 149553394 single base substitution C T intron_variant MELA-AU 6 149553454 149553454 single base substitution C T intron_variant MELA-AU 6 149553904 149553904 single base substitution C T intron_variant MELA-AU 6 149554284 149554284 single base substitution G A intron_variant MELA-AU 6 149554555 149554555 single base substitution G A intron_variant MELA-AU 6 149555333 149555334 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 149555675 149555675 single base substitution G A intron_variant MELA-AU 6 149555800 149555800 single base substitution G A intron_variant MELA-AU 6 149555907 149555907 single base substitution G A intron_variant MELA-AU 6 149556431 149556431 single base substitution A C intron_variant MELA-AU 6 149556567 149556567 single base substitution G A intron_variant MELA-AU 6 149556621 149556621 single base substitution G A intron_variant MELA-AU 6 149556847 149556847 single base substitution C T intron_variant MELA-AU 6 149557061 149557061 single base substitution G A intron_variant MELA-AU 6 149557821 149557821 single base substitution G A intron_variant MELA-AU 6 149557911 149557911 single base substitution G A intron_variant MELA-AU 6 149557922 149557922 single base substitution C T intron_variant MELA-AU 6 149557968 149557968 single base substitution A C intron_variant MELA-AU 6 149558188 149558188 single base substitution C T intron_variant MELA-AU 6 149558200 149558200 single base substitution C T intron_variant MELA-AU 6 149558434 149558434 single base substitution A T intron_variant MELA-AU 6 149558485 149558485 single base substitution G A intron_variant MELA-AU 6 149559033 149559033 single base substitution C T intron_variant MELA-AU 6 149559063 149559063 single base substitution C T intron_variant MELA-AU 6 149559122 149559122 single base substitution C T intron_variant MELA-AU 6 149559275 149559275 single base substitution C T intron_variant MELA-AU 6 149559622 149559622 single base substitution G A intron_variant MELA-AU 6 149560364 149560364 single base substitution C T intron_variant MELA-AU 6 149560564 149560564 single base substitution G A intron_variant MELA-AU 6 149560826 149560826 single base substitution G A intron_variant MELA-AU 6 149561516 149561516 single base substitution G A intron_variant MELA-AU 6 149561764 149561764 single base substitution T A intron_variant MELA-AU 6 149561777 149561777 single base substitution C T intron_variant MELA-AU 6 149561881 149561881 single base substitution G A intron_variant MELA-AU 6 149562009 149562010 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 149562086 149562086 single base substitution G A intron_variant MELA-AU 6 149562099 149562099 single base substitution C T intron_variant MELA-AU 6 149562328 149562328 single base substitution G A intron_variant MELA-AU 6 149562541 149562541 single base substitution G A intron_variant MELA-AU 6 149562592 149562592 single base substitution C T intron_variant MELA-AU 6 149562848 149562848 single base substitution G A intron_variant MELA-AU 6 149563035 149563035 single base substitution C T intron_variant MELA-AU 6 149563106 149563106 single base substitution C T intron_variant MELA-AU 6 149563423 149563423 single base substitution T C intron_variant MELA-AU 6 149563702 149563702 single base substitution C T intron_variant MELA-AU 6 149563897 149563898 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 149564038 149564038 single base substitution C T intron_variant MELA-AU 6 149564135 149564135 single base substitution C T intron_variant MELA-AU 6 149564183 149564183 single base substitution C T intron_variant MELA-AU 6 149564330 149564330 single base substitution A C intron_variant MELA-AU 6 149564484 149564484 single base substitution C T intron_variant MELA-AU 6 149564638 149564638 single base substitution G A intron_variant MELA-AU 6 149565020 149565020 single base substitution C T intron_variant MELA-AU 6 149565201 149565201 single base substitution G A intron_variant MELA-AU 6 149565357 149565357 single base substitution C T intron_variant MELA-AU 6 149565559 149565559 single base substitution G A intron_variant MELA-AU 6 149565592 149565592 single base substitution G A intron_variant MELA-AU 6 149565593 149565593 single base substitution G A intron_variant MELA-AU 6 149565734 149565734 single base substitution C A intron_variant MELA-AU 6 149567020 149567020 single base substitution C T intron_variant MELA-AU 6 149567063 149567063 single base substitution G A intron_variant MELA-AU 6 149567779 149567779 single base substitution G A intron_variant MELA-AU 6 149567984 149567984 single base substitution C T intron_variant MELA-AU 6 149568076 149568076 single base substitution C T intron_variant MELA-AU 6 149568746 149568746 single base substitution C T intron_variant MELA-AU 6 149568891 149568891 single base substitution C T intron_variant MELA-AU 6 149568892 149568892 single base substitution C T intron_variant MELA-AU 6 149569001 149569001 single base substitution C T intron_variant MELA-AU 6 149569002 149569002 single base substitution C T intron_variant MELA-AU 6 149569100 149569100 single base substitution G A intron_variant MELA-AU 6 149569204 149569204 single base substitution A T intron_variant MELA-AU 6 149569533 149569533 single base substitution G A intron_variant MELA-AU 6 149570472 149570472 single base substitution C T intron_variant MELA-AU 6 149571175 149571176 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 149571180 149571180 single base substitution G A intron_variant MELA-AU 6 149571184 149571184 single base substitution G A intron_variant MELA-AU 6 149571291 149571291 single base substitution G A intron_variant MELA-AU 6 149571954 149571954 single base substitution G A intron_variant MELA-AU 6 149572188 149572188 single base substitution C T intron_variant MELA-AU 6 149572431 149572431 single base substitution C T intron_variant MELA-AU 6 149572696 149572696 single base substitution G A intron_variant MELA-AU 6 149572820 149572820 single base substitution G A intron_variant MELA-AU 6 149572962 149572962 single base substitution A T intron_variant MELA-AU 6 149573077 149573077 single base substitution G A intron_variant MELA-AU 6 149573135 149573135 single base substitution G A intron_variant MELA-AU 6 149573936 149573936 single base substitution C T intron_variant MELA-AU 6 149574536 149574536 single base substitution C T intron_variant MELA-AU 6 149574770 149574770 single base substitution A G intron_variant MELA-AU 6 149575096 149575096 single base substitution A G intron_variant MELA-AU 6 149576429 149576429 single base substitution G A intron_variant MELA-AU 6 149577689 149577689 single base substitution G A intron_variant MELA-AU 6 149577807 149577807 single base substitution G A intron_variant MELA-AU 6 149577881 149577881 single base substitution T A intron_variant MELA-AU 6 149578108 149578108 single base substitution A G intron_variant MELA-AU 6 149578240 149578240 single base substitution A T intron_variant MELA-AU 6 149578366 149578366 single base substitution C T intron_variant MELA-AU 6 149578433 149578433 single base substitution G A intron_variant MELA-AU 6 149578486 149578486 single base substitution C T intron_variant MELA-AU 6 149578945 149578945 single base substitution G A intron_variant MELA-AU 6 149579160 149579160 single base substitution A G intron_variant MELA-AU 6 149579240 149579240 single base substitution G A intron_variant MELA-AU 6 149579324 149579324 single base substitution G A intron_variant MELA-AU 6 149579384 149579384 single base substitution G A intron_variant MELA-AU 6 149579523 149579523 single base substitution G A intron_variant MELA-AU 6 149580077 149580077 single base substitution A C intron_variant MELA-AU 6 149580347 149580347 single base substitution C T intron_variant MELA-AU 6 149580428 149580428 single base substitution C T intron_variant MELA-AU 6 149580498 149580498 single base substitution C T intron_variant MELA-AU 6 149580502 149580502 single base substitution C T intron_variant MELA-AU 6 149580573 149580573 single base substitution C A intron_variant MELA-AU 6 149581435 149581435 single base substitution G A intron_variant MELA-AU 6 149581666 149581666 single base substitution G A intron_variant MELA-AU 6 149581704 149581704 single base substitution G A intron_variant MELA-AU 6 149581771 149581771 single base substitution C T intron_variant MELA-AU 6 149581999 149581999 single base substitution C T intron_variant MELA-AU 6 149582010 149582010 single base substitution C T intron_variant MELA-AU 6 149582035 149582035 single base substitution C T intron_variant MELA-AU 6 149582294 149582294 single base substitution C T intron_variant MELA-AU 6 149582403 149582403 single base substitution A T intron_variant MELA-AU 6 149583012 149583012 single base substitution G A intron_variant MELA-AU 6 149583596 149583596 single base substitution G A intron_variant MELA-AU 6 149583775 149583775 single base substitution C T intron_variant MELA-AU 6 149583780 149583780 single base substitution C G intron_variant MELA-AU 6 149583805 149583805 single base substitution C T intron_variant MELA-AU 6 149583934 149583934 single base substitution C T intron_variant MELA-AU 6 149584161 149584161 single base substitution G A intron_variant MELA-AU 6 149584374 149584374 single base substitution T A intron_variant MELA-AU 6 149584407 149584407 single base substitution G A intron_variant MELA-AU 6 149584407 149584408 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 149584483 149584483 single base substitution G A intron_variant MELA-AU 6 149584687 149584687 single base substitution C T intron_variant MELA-AU 6 149585121 149585121 single base substitution G A intron_variant MELA-AU 6 149585192 149585192 single base substitution C T intron_variant MELA-AU 6 149586261 149586261 single base substitution G A intron_variant MELA-AU 6 149586467 149586467 single base substitution G A intron_variant MELA-AU 6 149586744 149586744 single base substitution T G intron_variant MELA-AU 6 149587141 149587141 single base substitution G A intron_variant MELA-AU 6 149587505 149587505 single base substitution C T intron_variant MELA-AU 6 149587736 149587737 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 149587849 149587849 single base substitution G A intron_variant MELA-AU 6 149587898 149587898 single base substitution G A intron_variant MELA-AU 6 149587976 149587976 single base substitution G A intron_variant MELA-AU 6 149588415 149588415 single base substitution G A intron_variant MELA-AU 6 149588482 149588482 single base substitution G A intron_variant MELA-AU 6 149588674 149588674 single base substitution G A intron_variant MELA-AU 6 149588907 149588907 single base substitution C T intron_variant MELA-AU 6 149589052 149589052 single base substitution C T intron_variant MELA-AU 6 149589139 149589139 single base substitution G A intron_variant MELA-AU 6 149590155 149590155 single base substitution C T intron_variant MELA-AU 6 149590181 149590182 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 149590408 149590408 single base substitution C G intron_variant MELA-AU 6 149590581 149590581 single base substitution G A intron_variant MELA-AU 6 149590604 149590604 single base substitution C T intron_variant MELA-AU 6 149590708 149590708 single base substitution C T intron_variant MELA-AU 6 149590734 149590734 single base substitution C T intron_variant MELA-AU 6 149590778 149590778 single base substitution C T intron_variant MELA-AU 6 149590818 149590818 single base substitution G T intron_variant MELA-AU 6 149590917 149590917 single base substitution C T intron_variant MELA-AU 6 149591156 149591156 single base substitution C T intron_variant MELA-AU 6 149591249 149591249 single base substitution G A intron_variant MELA-AU 6 149591289 149591289 single base substitution G A intron_variant MELA-AU 6 149591315 149591315 single base substitution C T intron_variant MELA-AU 6 149591882 149591882 single base substitution C T intron_variant MELA-AU 6 149592187 149592187 single base substitution C T intron_variant MELA-AU 6 149592790 149592790 single base substitution G A intron_variant MELA-AU 6 149593166 149593166 single base substitution G A intron_variant MELA-AU 6 149593197 149593197 single base substitution G A intron_variant MELA-AU 6 149593209 149593209 single base substitution C T intron_variant MELA-AU 6 149593250 149593250 single base substitution G A intron_variant MELA-AU 6 149593252 149593252 single base substitution A T intron_variant MELA-AU 6 149593356 149593356 single base substitution C T intron_variant MELA-AU 6 149593662 149593662 single base substitution A G intron_variant MELA-AU 6 149593734 149593734 single base substitution G A intron_variant MELA-AU 6 149593962 149593962 single base substitution T C intron_variant MELA-AU 6 149594190 149594190 single base substitution G A intron_variant MELA-AU 6 149594191 149594191 single base substitution G A intron_variant MELA-AU 6 149594221 149594221 single base substitution G A intron_variant MELA-AU 6 149594250 149594250 single base substitution G A intron_variant MELA-AU 6 149595787 149595787 single base substitution G A intron_variant MELA-AU 6 149595934 149595934 single base substitution C T intron_variant MELA-AU 6 149596079 149596079 single base substitution G A intron_variant MELA-AU 6 149596210 149596210 single base substitution G A intron_variant MELA-AU 6 149596275 149596275 single base substitution T A intron_variant MELA-AU 6 149596478 149596478 single base substitution C T intron_variant MELA-AU 6 149596784 149596785 multiple base substitution (>=2bp and <=200bp) AC TA intron_variant MELA-AU 6 149596848 149596848 single base substitution G A intron_variant MELA-AU 6 149596922 149596922 single base substitution C T intron_variant MELA-AU 6 149596932 149596932 insertion of <=200bp - T intron_variant MELA-AU 6 149596947 149596947 single base substitution C T intron_variant MELA-AU 6 149597308 149597308 single base substitution A G intron_variant MELA-AU 6 149597626 149597626 single base substitution C T intron_variant MELA-AU 6 149597809 149597809 single base substitution G A intron_variant MELA-AU 6 149597895 149597895 single base substitution C T intron_variant MELA-AU 6 149597933 149597933 single base substitution C T intron_variant MELA-AU 6 149598075 149598075 single base substitution C A intron_variant MELA-AU 6 149598195 149598195 single base substitution C T intron_variant MELA-AU 6 149598392 149598392 single base substitution G T intron_variant MELA-AU 6 149598628 149598628 single base substitution G T intron_variant MELA-AU 6 149598682 149598682 single base substitution G A intron_variant MELA-AU 6 149599156 149599156 single base substitution C T intron_variant MELA-AU 6 149599319 149599319 single base substitution A G intron_variant MELA-AU 6 149599375 149599375 single base substitution G A intron_variant MELA-AU 6 149599386 149599386 single base substitution C T intron_variant MELA-AU 6 149599433 149599433 single base substitution T C intron_variant MELA-AU 6 149599661 149599661 single base substitution G A intron_variant MELA-AU 6 149599726 149599726 single base substitution C T intron_variant MELA-AU 6 149599746 149599746 single base substitution G A intron_variant MELA-AU 6 149600002 149600003 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 149600012 149600012 single base substitution C T intron_variant MELA-AU 6 149600085 149600085 single base substitution G A intron_variant MELA-AU 6 149600149 149600149 single base substitution C T intron_variant MELA-AU 6 149600244 149600244 single base substitution C T intron_variant MELA-AU 6 149600261 149600261 single base substitution C T intron_variant MELA-AU 6 149600614 149600614 single base substitution G A intron_variant MELA-AU 6 149600692 149600692 single base substitution C T intron_variant MELA-AU 6 149600719 149600719 single base substitution G A intron_variant MELA-AU 6 149600733 149600733 single base substitution T G intron_variant MELA-AU 6 149600748 149600748 single base substitution G A intron_variant MELA-AU 6 149600806 149600806 single base substitution C T intron_variant MELA-AU 6 149601144 149601144 single base substitution C T intron_variant MELA-AU 6 149601357 149601357 single base substitution T C intron_variant MELA-AU 6 149601424 149601424 single base substitution G A intron_variant MELA-AU 6 149601571 149601571 single base substitution C T intron_variant MELA-AU 6 149602092 149602092 single base substitution T G intron_variant MELA-AU 6 149602135 149602135 single base substitution A G intron_variant MELA-AU 6 149602194 149602194 single base substitution G A intron_variant MELA-AU 6 149602211 149602211 single base substitution G A intron_variant MELA-AU 6 149602237 149602237 single base substitution G A intron_variant MELA-AU 6 149602282 149602282 single base substitution G A intron_variant MELA-AU 6 149602343 149602343 single base substitution G A intron_variant MELA-AU 6 149602354 149602354 single base substitution A G intron_variant MELA-AU 6 149602548 149602548 single base substitution G A intron_variant MELA-AU 6 149602660 149602660 single base substitution C T intron_variant MELA-AU 6 149602952 149602952 single base substitution A G intron_variant MELA-AU 6 149603015 149603015 single base substitution A T intron_variant MELA-AU 6 149603460 149603460 single base substitution G A intron_variant MELA-AU 6 149603649 149603649 single base substitution G A intron_variant MELA-AU 6 149603682 149603682 single base substitution C T intron_variant MELA-AU 6 149603836 149603836 single base substitution C T intron_variant MELA-AU 6 149604013 149604013 single base substitution T G intron_variant MELA-AU 6 149604089 149604089 single base substitution G A intron_variant MELA-AU 6 149604224 149604224 single base substitution C T intron_variant MELA-AU 6 149604271 149604271 single base substitution G A intron_variant MELA-AU 6 149604464 149604464 single base substitution T A intron_variant MELA-AU 6 149604720 149604720 single base substitution C T intron_variant MELA-AU 6 149604721 149604721 single base substitution C T intron_variant MELA-AU 6 149604834 149604834 single base substitution G A intron_variant MELA-AU 6 149604871 149604871 single base substitution G A intron_variant MELA-AU 6 149605302 149605302 single base substitution G A intron_variant MELA-AU 6 149606204 149606204 single base substitution G A intron_variant MELA-AU 6 149606321 149606321 single base substitution G A intron_variant MELA-AU 6 149606370 149606370 single base substitution G A intron_variant MELA-AU 6 149606429 149606429 single base substitution G A intron_variant MELA-AU 6 149606818 149606818 single base substitution C T intron_variant MELA-AU 6 149607577 149607577 single base substitution C T intron_variant MELA-AU 6 149607741 149607741 single base substitution G A intron_variant MELA-AU 6 149608167 149608167 single base substitution C T intron_variant MELA-AU 6 149608259 149608259 single base substitution G A intron_variant MELA-AU 6 149608583 149608583 single base substitution T C intron_variant MELA-AU 6 149609401 149609401 single base substitution A T intron_variant MELA-AU 6 149609407 149609407 single base substitution C T intron_variant MELA-AU 6 149609972 149609972 single base substitution G A intron_variant MELA-AU 6 149610034 149610035 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 149610201 149610201 single base substitution G A intron_variant MELA-AU 6 149610292 149610292 single base substitution G A intron_variant MELA-AU 6 149610342 149610342 single base substitution C T intron_variant MELA-AU 6 149610734 149610734 single base substitution C T intron_variant MELA-AU 6 149611056 149611056 single base substitution G A intron_variant MELA-AU 6 149611418 149611418 single base substitution G A intron_variant MELA-AU 6 149611529 149611529 single base substitution C T intron_variant MELA-AU 6 149612117 149612117 single base substitution C T intron_variant MELA-AU 6 149612794 149612794 single base substitution C T intron_variant MELA-AU 6 149613673 149613673 single base substitution G A intron_variant MELA-AU 6 149613830 149613830 single base substitution G A intron_variant MELA-AU 6 149613925 149613925 single base substitution G A intron_variant MELA-AU 6 149613935 149613935 single base substitution C T intron_variant MELA-AU 6 149613998 149613998 single base substitution C T intron_variant MELA-AU 6 149614049 149614049 single base substitution T C intron_variant MELA-AU 6 149614055 149614055 single base substitution C T intron_variant MELA-AU 6 149614235 149614235 single base substitution C T intron_variant MELA-AU 6 149614295 149614295 single base substitution G A intron_variant MELA-AU 6 149614339 149614339 single base substitution G A intron_variant MELA-AU 6 149614375 149614375 single base substitution C T intron_variant MELA-AU 6 149614859 149614859 single base substitution A G intron_variant MELA-AU 6 149615364 149615364 single base substitution G A intron_variant MELA-AU 6 149615372 149615372 single base substitution C T intron_variant MELA-AU 6 149615580 149615580 single base substitution A G intron_variant MELA-AU 6 149616148 149616148 single base substitution C T intron_variant MELA-AU 6 149616359 149616359 single base substitution C T intron_variant MELA-AU 6 149616466 149616466 single base substitution G A intron_variant MELA-AU 6 149616484 149616484 single base substitution C T intron_variant MELA-AU 6 149616567 149616567 single base substitution G A intron_variant MELA-AU 6 149616631 149616631 single base substitution G A intron_variant MELA-AU 6 149616907 149616907 single base substitution T G intron_variant MELA-AU 6 149617157 149617157 single base substitution C T intron_variant MELA-AU 6 149617352 149617353 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 149617363 149617363 single base substitution G A intron_variant MELA-AU 6 149617714 149617714 single base substitution G A intron_variant MELA-AU 6 149618056 149618056 single base substitution C T intron_variant MELA-AU 6 149618327 149618327 single base substitution C T intron_variant MELA-AU 6 149618645 149618645 single base substitution A G intron_variant MELA-AU 6 149618743 149618743 single base substitution C T intron_variant MELA-AU 6 149619027 149619027 single base substitution G A intron_variant MELA-AU 6 149619135 149619135 single base substitution G A intron_variant MELA-AU 6 149619584 149619584 single base substitution G A intron_variant MELA-AU 6 149619677 149619677 single base substitution T C intron_variant MELA-AU 6 149619989 149619989 single base substitution C T intron_variant MELA-AU 6 149620048 149620048 single base substitution C T intron_variant MELA-AU 6 149620895 149620895 single base substitution C T intron_variant MELA-AU 6 149620907 149620907 single base substitution G A intron_variant MELA-AU 6 149621014 149621014 single base substitution C T intron_variant MELA-AU 6 149621581 149621581 single base substitution G A intron_variant MELA-AU 6 149621609 149621609 single base substitution C T intron_variant MELA-AU 6 149621804 149621804 single base substitution C T intron_variant MELA-AU 6 149621879 149621879 single base substitution G T intron_variant MELA-AU 6 149621887 149621887 single base substitution G A intron_variant MELA-AU 6 149622114 149622114 single base substitution C T intron_variant MELA-AU 6 149622163 149622163 single base substitution G A intron_variant MELA-AU 6 149622537 149622537 single base substitution C T intron_variant MELA-AU 6 149622543 149622543 single base substitution A T intron_variant MELA-AU 6 149622889 149622889 single base substitution C T intron_variant MELA-AU 6 149622918 149622918 single base substitution A C intron_variant MELA-AU 6 149623293 149623293 single base substitution C T intron_variant MELA-AU 6 149623887 149623887 single base substitution T C intron_variant MELA-AU 6 149625367 149625367 single base substitution G A intron_variant MELA-AU 6 149625418 149625418 single base substitution G A intron_variant MELA-AU 6 149625476 149625476 single base substitution C T intron_variant MELA-AU 6 149625527 149625527 single base substitution T G intron_variant MELA-AU 6 149625652 149625652 single base substitution G A intron_variant MELA-AU 6 149625655 149625655 single base substitution C T intron_variant MELA-AU 6 149626096 149626096 single base substitution C A intron_variant MELA-AU 6 149626784 149626784 single base substitution G A intron_variant MELA-AU 6 149627509 149627509 single base substitution C T intron_variant MELA-AU 6 149627621 149627621 single base substitution G A intron_variant MELA-AU 6 149628387 149628387 single base substitution C T intron_variant MELA-AU 6 149628494 149628494 single base substitution G A intron_variant MELA-AU 6 149628513 149628513 single base substitution G A intron_variant MELA-AU 6 149628592 149628592 single base substitution C A intron_variant MELA-AU 6 149629540 149629540 single base substitution G A intron_variant MELA-AU 6 149629800 149629800 single base substitution G A intron_variant MELA-AU 6 149630191 149630191 single base substitution C T intron_variant MELA-AU 6 149630275 149630275 single base substitution C T intron_variant MELA-AU 6 149630404 149630404 single base substitution G A intron_variant MELA-AU 6 149630564 149630564 single base substitution G A intron_variant MELA-AU 6 149630791 149630791 single base substitution C T intron_variant MELA-AU 6 149630803 149630803 single base substitution G A intron_variant MELA-AU 6 149630966 149630966 single base substitution C T intron_variant MELA-AU 6 149630983 149630983 single base substitution C T intron_variant MELA-AU 6 149631477 149631477 single base substitution A G intron_variant MELA-AU 6 149631618 149631618 single base substitution C T intron_variant MELA-AU 6 149632016 149632016 single base substitution C T intron_variant MELA-AU 6 149632032 149632032 single base substitution G A intron_variant MELA-AU 6 149632080 149632080 single base substitution C T intron_variant MELA-AU 6 149632149 149632149 single base substitution C T intron_variant MELA-AU 6 149632233 149632233 single base substitution T C intron_variant MELA-AU 6 149632315 149632315 single base substitution C T intron_variant MELA-AU 6 149632612 149632612 single base substitution G A intron_variant MELA-AU 6 149632757 149632757 single base substitution T A intron_variant MELA-AU 6 149633168 149633168 single base substitution G A intron_variant MELA-AU 6 149633592 149633592 single base substitution G A intron_variant MELA-AU 6 149633767 149633767 single base substitution G A intron_variant MELA-AU 6 149634020 149634020 single base substitution T G intron_variant MELA-AU 6 149634964 149634964 single base substitution G A intron_variant MELA-AU 6 149634964 149634964 single base substitution G A upstream_gene_variant MELA-AU 6 149635079 149635079 single base substitution C T intron_variant MELA-AU 6 149635079 149635079 single base substitution C T upstream_gene_variant MELA-AU 6 149635162 149635162 single base substitution G A intron_variant MELA-AU 6 149635162 149635162 single base substitution G A upstream_gene_variant MELA-AU 6 149635277 149635277 single base substitution G A intron_variant MELA-AU 6 149635277 149635277 single base substitution G A upstream_gene_variant MELA-AU 6 149635597 149635597 single base substitution C T intron_variant MELA-AU 6 149635597 149635597 single base substitution C T upstream_gene_variant MELA-AU 6 149636279 149636279 single base substitution C T intron_variant MELA-AU 6 149636279 149636279 single base substitution C T upstream_gene_variant MELA-AU 6 149636566 149636566 single base substitution G A intron_variant MELA-AU 6 149636566 149636566 single base substitution G A upstream_gene_variant MELA-AU 6 149637164 149637164 single base substitution T C intron_variant MELA-AU 6 149637164 149637164 single base substitution T C upstream_gene_variant MELA-AU 6 149637174 149637174 single base substitution G A intron_variant MELA-AU 6 149637174 149637174 single base substitution G A upstream_gene_variant MELA-AU 6 149637383 149637383 single base substitution C T intron_variant MELA-AU 6 149637383 149637383 single base substitution C T upstream_gene_variant MELA-AU 6 149637808 149637808 single base substitution G T intron_variant MELA-AU 6 149637808 149637808 single base substitution G T upstream_gene_variant MELA-AU 6 149640288 149640288 single base substitution C T intron_variant MELA-AU 6 149640288 149640288 single base substitution C T upstream_gene_variant MELA-AU 6 149640595 149640595 single base substitution G A intron_variant MELA-AU 6 149640595 149640595 single base substitution G A upstream_gene_variant MELA-AU 6 149641489 149641489 single base substitution G A intron_variant MELA-AU 6 149641489 149641489 single base substitution G A upstream_gene_variant MELA-AU 6 149642970 149642970 single base substitution A C intron_variant MELA-AU 6 149643721 149643721 single base substitution C T intron_variant MELA-AU 6 149643998 149643998 single base substitution G A intron_variant MELA-AU 6 149644123 149644123 single base substitution C G intron_variant MELA-AU 6 149644353 149644353 single base substitution C T intron_variant MELA-AU 6 149644355 149644355 single base substitution C T intron_variant MELA-AU 6 149644376 149644376 single base substitution C T intron_variant MELA-AU 6 149644445 149644445 single base substitution C A intron_variant MELA-AU 6 149644479 149644479 single base substitution C T intron_variant MELA-AU 6 149644781 149644781 single base substitution C T intron_variant MELA-AU 6 149645324 149645324 single base substitution T C intron_variant MELA-AU 6 149645545 149645545 single base substitution T A intron_variant MELA-AU 6 149646698 149646698 single base substitution G A intron_variant MELA-AU 6 149647695 149647695 single base substitution T C intron_variant MELA-AU 6 149648499 149648499 single base substitution C T intron_variant MELA-AU 6 149650135 149650135 single base substitution C T intron_variant MELA-AU 6 149651255 149651255 single base substitution C T intron_variant MELA-AU 6 149651256 149651256 single base substitution C T intron_variant MELA-AU 6 149651714 149651714 single base substitution C T intron_variant MELA-AU 6 149652681 149652681 single base substitution T A intron_variant MELA-AU 6 149653152 149653152 single base substitution A G intron_variant MELA-AU 6 149653492 149653492 single base substitution C T intron_variant MELA-AU 6 149654119 149654119 single base substitution C T intron_variant MELA-AU 6 149654420 149654420 single base substitution C T intron_variant MELA-AU 6 149656593 149656593 single base substitution C T intron_variant MELA-AU 6 149657791 149657791 single base substitution G A intron_variant MELA-AU 6 149658038 149658038 single base substitution G A intron_variant MELA-AU 6 149658453 149658453 single base substitution C T intron_variant MELA-AU 6 149659055 149659055 single base substitution A G intron_variant MELA-AU 6 149659055 149659055 single base substitution A G upstream_gene_variant MELA-AU 6 149659781 149659781 single base substitution C T intron_variant MELA-AU 6 149659781 149659781 single base substitution C T upstream_gene_variant MELA-AU 6 149660889 149660889 single base substitution C T intron_variant MELA-AU 6 149660889 149660889 single base substitution C T upstream_gene_variant MELA-AU 6 149663065 149663065 single base substitution G A intron_variant MELA-AU 6 149663065 149663065 single base substitution G A upstream_gene_variant MELA-AU 6 149663896 149663896 single base substitution T G 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 6 149663896 149663896 single base substitution T G exon_variant MELA-AU 6 149663896 149663896 single base substitution T G intron_variant MELA-AU 6 149663896 149663896 single base substitution T G upstream_gene_variant MELA-AU 6 149665412 149665412 single base substitution C T intron_variant MELA-AU 6 149665698 149665698 single base substitution G C intron_variant MELA-AU 6 149665712 149665712 single base substitution G T intron_variant MELA-AU 6 149665831 149665831 single base substitution A G intron_variant MELA-AU 6 149666207 149666207 single base substitution C T intron_variant MELA-AU 6 149666821 149666821 single base substitution C T intron_variant MELA-AU 6 149667832 149667832 single base substitution C T intron_variant MELA-AU 6 149668302 149668302 single base substitution C T intron_variant MELA-AU 6 149669598 149669598 single base substitution T C downstream_gene_variant MELA-AU 6 149669598 149669598 single base substitution T C intron_variant MELA-AU 6 149669607 149669607 insertion of <=200bp - A downstream_gene_variant MELA-AU 6 149669607 149669607 insertion of <=200bp - A intron_variant MELA-AU 6 149670969 149670969 single base substitution A G downstream_gene_variant MELA-AU 6 149670969 149670969 single base substitution A G intron_variant MELA-AU 6 149671068 149671068 single base substitution C A downstream_gene_variant MELA-AU 6 149671068 149671068 single base substitution C A intron_variant MELA-AU 6 149671108 149671108 single base substitution C T downstream_gene_variant MELA-AU 6 149671108 149671108 single base substitution C T intron_variant MELA-AU 6 149672880 149672880 single base substitution C T downstream_gene_variant MELA-AU 6 149672880 149672880 single base substitution C T intron_variant MELA-AU 6 149673174 149673174 single base substitution C T downstream_gene_variant MELA-AU 6 149673174 149673174 single base substitution C T intron_variant MELA-AU 6 149673461 149673461 single base substitution C A intron_variant MELA-AU 6 149674227 149674227 single base substitution C T intron_variant MELA-AU 6 149674739 149674739 single base substitution C T intron_variant MELA-AU 6 149674915 149674915 single base substitution C T intron_variant MELA-AU 6 149676176 149676176 single base substitution G T intron_variant MELA-AU 6 149677233 149677233 single base substitution C T intron_variant MELA-AU 6 149677377 149677377 single base substitution C T intron_variant MELA-AU 6 149677449 149677449 single base substitution C T intron_variant MELA-AU 6 149677736 149677736 single base substitution C T intron_variant MELA-AU 6 149678108 149678108 single base substitution C T intron_variant MELA-AU 6 149678566 149678566 single base substitution A C intron_variant MELA-AU 6 149679652 149679652 single base substitution C T intron_variant MELA-AU 6 149680379 149680379 single base substitution C T intron_variant MELA-AU 6 149680982 149680982 single base substitution G A intron_variant MELA-AU 6 149681722 149681722 single base substitution A T intron_variant MELA-AU 6 149681780 149681780 single base substitution C T intron_variant MELA-AU 6 149682085 149682085 single base substitution C T intron_variant MELA-AU 6 149682086 149682086 single base substitution C T intron_variant MELA-AU 6 149682322 149682322 single base substitution C T intron_variant MELA-AU 6 149682641 149682641 single base substitution C T intron_variant MELA-AU 6 149683249 149683249 single base substitution T C intron_variant MELA-AU 6 149684049 149684049 single base substitution C T intron_variant MELA-AU 6 149684583 149684583 single base substitution C T intron_variant MELA-AU 6 149684647 149684647 single base substitution C T intron_variant MELA-AU 6 149684737 149684737 single base substitution T C intron_variant MELA-AU 6 149685152 149685152 single base substitution T G intron_variant MELA-AU 6 149685189 149685189 single base substitution C T intron_variant MELA-AU 6 149687145 149687145 single base substitution T G intron_variant MELA-AU 6 149687145 149687145 single base substitution T G upstream_gene_variant MELA-AU 6 149688241 149688241 single base substitution A G intron_variant MELA-AU 6 149688241 149688241 single base substitution A G upstream_gene_variant MELA-AU 6 149688697 149688697 single base substitution T C intron_variant MELA-AU 6 149688697 149688697 single base substitution T C upstream_gene_variant MELA-AU 6 149689580 149689580 single base substitution C T intron_variant MELA-AU 6 149689580 149689580 single base substitution C T upstream_gene_variant MELA-AU 6 149689826 149689826 single base substitution A G intron_variant MELA-AU 6 149689826 149689826 single base substitution A G upstream_gene_variant MELA-AU 6 149690385 149690385 single base substitution G A intron_variant MELA-AU 6 149690385 149690385 single base substitution G A upstream_gene_variant MELA-AU 6 149690863 149690863 single base substitution C T intron_variant MELA-AU 6 149690863 149690863 single base substitution C T upstream_gene_variant MELA-AU 6 149691761 149691761 single base substitution T A intron_variant MELA-AU 6 149691949 149691949 single base substitution C T intron_variant MELA-AU 6 149692467 149692467 single base substitution C T intron_variant MELA-AU 6 149692526 149692526 single base substitution C T intron_variant MELA-AU 6 149694218 149694218 single base substitution C T downstream_gene_variant MELA-AU 6 149694218 149694218 single base substitution C T intron_variant MELA-AU 6 149694675 149694675 single base substitution C G downstream_gene_variant MELA-AU 6 149694675 149694675 single base substitution C G intron_variant MELA-AU 6 149694781 149694781 single base substitution G T downstream_gene_variant MELA-AU 6 149694781 149694781 single base substitution G T intron_variant MELA-AU 6 149695395 149695395 single base substitution C A downstream_gene_variant MELA-AU 6 149695395 149695395 single base substitution C A intron_variant MELA-AU 6 149695680 149695680 single base substitution C T downstream_gene_variant MELA-AU 6 149695680 149695680 single base substitution C T intron_variant MELA-AU 6 149695986 149695986 single base substitution T C downstream_gene_variant MELA-AU 6 149695986 149695986 single base substitution T C intron_variant MELA-AU 6 149696449 149696449 single base substitution C T downstream_gene_variant MELA-AU 6 149696449 149696449 single base substitution C T intron_variant MELA-AU 6 149696659 149696659 single base substitution G A downstream_gene_variant MELA-AU 6 149696659 149696659 single base substitution G A intron_variant MELA-AU 6 149697570 149697570 single base substitution A T downstream_gene_variant MELA-AU 6 149697570 149697570 single base substitution A T intron_variant MELA-AU 6 149698250 149698250 single base substitution G A downstream_gene_variant MELA-AU 6 149698250 149698250 single base substitution G A intron_variant MELA-AU 6 149698829 149698829 single base substitution T G intron_variant MELA-AU 6 149698863 149698863 single base substitution A T intron_variant MELA-AU 6 149698906 149698906 single base substitution C T intron_variant MELA-AU 6 149699002 149699002 single base substitution C T intron_variant MELA-AU 6 149699485 149699485 single base substitution C T exon_variant MELA-AU 6 149699485 149699485 single base substitution C T missense_variant S113F 338C>T MELA-AU 6 149699485 149699485 single base substitution C T missense_variant S145F 434C>T MELA-AU 6 149699485 149699485 single base substitution C T missense_variant S71F 212C>T MELA-AU 6 149699607 149699607 single base substitution C T exon_variant MELA-AU 6 149699607 149699607 single base substitution C T stop_gained Q112* 334C>T MELA-AU 6 149699607 149699607 single base substitution C T stop_gained Q154* 460C>T MELA-AU 6 149699607 149699607 single base substitution C T stop_gained Q186* 556C>T MELA-AU 6 149699830 149699830 single base substitution C T downstream_gene_variant MELA-AU 6 149699830 149699830 single base substitution C T exon_variant MELA-AU 6 149699830 149699830 single base substitution C T missense_variant P228L 683C>T MELA-AU 6 149699830 149699830 single base substitution C T missense_variant P260L 779C>T MELA-AU 6 149700008 149700008 single base substitution A T downstream_gene_variant MELA-AU 6 149700008 149700008 single base substitution A T exon_variant MELA-AU 6 149700008 149700008 single base substitution A T synonymous_variant T287T 861A>T MELA-AU 6 149700008 149700008 single base substitution A T synonymous_variant T319T 957A>T MELA-AU 6 149700122 149700122 single base substitution C T downstream_gene_variant MELA-AU 6 149700122 149700122 single base substitution C T exon_variant MELA-AU 6 149700122 149700122 single base substitution C T synonymous_variant S325S 975C>T MELA-AU 6 149700122 149700122 single base substitution C T synonymous_variant S357S 1071C>T MELA-AU 6 149701155 149701155 single base substitution C T 3_prime_UTR_variant MELA-AU 6 149701155 149701155 single base substitution C T downstream_gene_variant MELA-AU 6 149701155 149701155 single base substitution C T intron_variant MELA-AU 6 149701453 149701453 single base substitution T C downstream_gene_variant MELA-AU 6 149701453 149701453 single base substitution T C intron_variant MELA-AU 6 149702921 149702921 single base substitution C T downstream_gene_variant MELA-AU 6 149702921 149702921 single base substitution C T intron_variant MELA-AU 6 149703985 149703985 single base substitution A T downstream_gene_variant MELA-AU 6 149703985 149703985 single base substitution A T intron_variant MELA-AU 6 149704283 149704283 single base substitution C T downstream_gene_variant MELA-AU 6 149704283 149704283 single base substitution C T intron_variant MELA-AU 6 149704945 149704945 single base substitution C T downstream_gene_variant MELA-AU 6 149704945 149704945 single base substitution C T intron_variant MELA-AU 6 149705625 149705625 single base substitution A G downstream_gene_variant MELA-AU 6 149705625 149705625 single base substitution A G intron_variant MELA-AU 6 149705791 149705791 single base substitution C T downstream_gene_variant MELA-AU 6 149705791 149705791 single base substitution C T intron_variant MELA-AU 6 149706393 149706393 single base substitution G A intron_variant MELA-AU 6 149706632 149706632 deletion of <=200bp T - intron_variant MELA-AU 6 149706762 149706762 single base substitution G A intron_variant MELA-AU 6 149706772 149706772 single base substitution C A intron_variant MELA-AU 6 149707176 149707176 single base substitution C T intron_variant MELA-AU 6 149708073 149708073 single base substitution C T intron_variant MELA-AU 6 149708135 149708135 single base substitution A T intron_variant MELA-AU 6 149708336 149708336 single base substitution C T intron_variant MELA-AU 6 149708721 149708721 single base substitution T G intron_variant MELA-AU 6 149709680 149709681 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 149709912 149709912 single base substitution C T intron_variant MELA-AU 6 149710020 149710020 single base substitution T A intron_variant MELA-AU 6 149710115 149710115 single base substitution C T intron_variant MELA-AU 6 149711091 149711091 single base substitution C T intron_variant MELA-AU 6 149711229 149711229 single base substitution C T intron_variant MELA-AU 6 149712008 149712008 single base substitution G A intron_variant MELA-AU 6 149712375 149712375 single base substitution T C intron_variant MELA-AU 6 149712875 149712875 single base substitution C T intron_variant MELA-AU 6 149712977 149712977 single base substitution C T intron_variant MELA-AU 6 149713367 149713367 single base substitution C T intron_variant MELA-AU 6 149713688 149713688 single base substitution C T intron_variant MELA-AU 6 149714989 149714989 single base substitution G A intron_variant MELA-AU 6 149714989 149714989 single base substitution G A upstream_gene_variant MELA-AU 6 149715255 149715255 single base substitution C T intron_variant MELA-AU 6 149715255 149715255 single base substitution C T upstream_gene_variant MELA-AU 6 149715302 149715302 single base substitution T A intron_variant MELA-AU 6 149715302 149715302 single base substitution T A upstream_gene_variant MELA-AU 6 149716182 149716182 single base substitution C T intron_variant MELA-AU 6 149716182 149716182 single base substitution C T upstream_gene_variant MELA-AU 6 149716730 149716730 single base substitution A G intron_variant MELA-AU 6 149716730 149716730 single base substitution A G upstream_gene_variant MELA-AU 6 149716893 149716893 single base substitution C T intron_variant MELA-AU 6 149716893 149716893 single base substitution C T upstream_gene_variant MELA-AU 6 149717056 149717056 single base substitution C T intron_variant MELA-AU 6 149717056 149717056 single base substitution C T upstream_gene_variant MELA-AU 6 149717146 149717146 single base substitution C T intron_variant MELA-AU 6 149717146 149717146 single base substitution C T upstream_gene_variant MELA-AU 6 149717148 149717148 single base substitution C A intron_variant MELA-AU 6 149717148 149717148 single base substitution C A upstream_gene_variant MELA-AU 6 149717157 149717157 single base substitution C T intron_variant MELA-AU 6 149717157 149717157 single base substitution C T upstream_gene_variant MELA-AU 6 149717246 149717246 single base substitution C T intron_variant MELA-AU 6 149717246 149717246 single base substitution C T upstream_gene_variant MELA-AU 6 149717302 149717302 single base substitution C T intron_variant MELA-AU 6 149717302 149717302 single base substitution C T upstream_gene_variant MELA-AU 6 149717631 149717631 single base substitution C T intron_variant MELA-AU 6 149717631 149717631 single base substitution C T upstream_gene_variant MELA-AU 6 149718081 149718081 single base substitution C T intron_variant MELA-AU 6 149718081 149718081 single base substitution C T upstream_gene_variant MELA-AU 6 149718484 149718484 single base substitution G A intron_variant MELA-AU 6 149718484 149718484 single base substitution G A upstream_gene_variant MELA-AU 6 149720384 149720384 single base substitution C T intron_variant MELA-AU 6 149720505 149720505 single base substitution T C intron_variant MELA-AU 6 149720668 149720668 single base substitution C T intron_variant MELA-AU 6 149721415 149721415 single base substitution C T intron_variant MELA-AU 6 149723728 149723728 single base substitution C T intron_variant MELA-AU 6 149724008 149724008 single base substitution A C intron_variant MELA-AU 6 149724680 149724680 single base substitution C T intron_variant MELA-AU 6 149724946 149724946 single base substitution C T intron_variant MELA-AU 6 149725325 149725325 deletion of <=200bp A - intron_variant MELA-AU 6 149725656 149725656 single base substitution C T intron_variant MELA-AU 6 149726495 149726495 single base substitution T C intron_variant MELA-AU 6 149726547 149726547 single base substitution C T intron_variant MELA-AU 6 149726846 149726847 deletion of <=200bp AG - intron_variant MELA-AU 6 149727339 149727339 single base substitution T G intron_variant MELA-AU 6 149728440 149728440 single base substitution A G intron_variant MELA-AU 6 149728465 149728465 single base substitution C T intron_variant MELA-AU 6 149729136 149729136 single base substitution C T intron_variant MELA-AU 6 149729342 149729343 multiple base substitution (>=2bp and <=200bp) TG GT intron_variant MELA-AU 6 149730478 149730478 single base substitution C T intron_variant MELA-AU 6 149731627 149731627 single base substitution C T 3_prime_UTR_variant MELA-AU 6 149731627 149731627 single base substitution C T downstream_gene_variant MELA-AU 6 149733626 149733626 single base substitution T A downstream_gene_variant MELA-AU 6 149734259 149734259 single base substitution C T downstream_gene_variant MELA-AU 6 149734580 149734580 single base substitution C T downstream_gene_variant MELA-AU 6 149734740 149734740 single base substitution C T downstream_gene_variant MELA-AU 6 149735750 149735750 single base substitution C T downstream_gene_variant MELA-AU 6 149735793 149735793 single base substitution C T downstream_gene_variant MELA-AU 6 149735841 149735841 single base substitution C T downstream_gene_variant MELA-AU 6 149736023 149736023 single base substitution C T downstream_gene_variant MELA-AU 6 149736624 149736624 single base substitution C T downstream_gene_variant MELA-AU 6 149736904 149736904 single base substitution C T downstream_gene_variant ORCA-IN 6 149547459 149547459 single base substitution G A intron_variant ORCA-IN 6 149555602 149555602 single base substitution T A intron_variant ORCA-IN 6 149580510 149580510 single base substitution T C intron_variant ORCA-IN 6 149581319 149581319 single base substitution C T intron_variant ORCA-IN 6 149626032 149626032 single base substitution A T intron_variant ORCA-IN 6 149640242 149640242 single base substitution G T intron_variant ORCA-IN 6 149640242 149640242 single base substitution G T upstream_gene_variant ORCA-IN 6 149654883 149654883 single base substitution C G intron_variant OV-AU 6 149535104 149535104 single base substitution G A upstream_gene_variant OV-AU 6 149536865 149536865 single base substitution A C upstream_gene_variant OV-AU 6 149538128 149538128 single base substitution G T upstream_gene_variant OV-AU 6 149540842 149540842 single base substitution G C intron_variant OV-AU 6 149547687 149547687 single base substitution T A intron_variant OV-AU 6 149556902 149556902 single base substitution G C intron_variant OV-AU 6 149560830 149560830 single base substitution T G intron_variant OV-AU 6 149564409 149564409 single base substitution G C intron_variant OV-AU 6 149575158 149575158 single base substitution G A intron_variant OV-AU 6 149575159 149575159 single base substitution A G intron_variant OV-AU 6 149575356 149575356 single base substitution C T intron_variant OV-AU 6 149575574 149575574 single base substitution T A intron_variant OV-AU 6 149575675 149575675 single base substitution A T intron_variant OV-AU 6 149592587 149592587 single base substitution T C intron_variant OV-AU 6 149594492 149594492 single base substitution G T intron_variant OV-AU 6 149598167 149598167 single base substitution C T intron_variant OV-AU 6 149602889 149602889 single base substitution G C intron_variant OV-AU 6 149604374 149604374 single base substitution A G intron_variant OV-AU 6 149608516 149608516 single base substitution C A intron_variant OV-AU 6 149615637 149615637 single base substitution A G intron_variant OV-AU 6 149632245 149632245 single base substitution G A intron_variant OV-AU 6 149639927 149639927 single base substitution G C intron_variant OV-AU 6 149639927 149639927 single base substitution G C upstream_gene_variant OV-AU 6 149643710 149643710 single base substitution C T intron_variant OV-AU 6 149644172 149644172 single base substitution G T intron_variant OV-AU 6 149644689 149644689 single base substitution A G intron_variant OV-AU 6 149651736 149651736 single base substitution A G intron_variant OV-AU 6 149656988 149656988 single base substitution T G intron_variant OV-AU 6 149674727 149674727 single base substitution C G intron_variant OV-AU 6 149688985 149688985 single base substitution G T intron_variant OV-AU 6 149688985 149688985 single base substitution G T upstream_gene_variant OV-AU 6 149691463 149691463 single base substitution G C intron_variant OV-AU 6 149693550 149693550 single base substitution T C downstream_gene_variant OV-AU 6 149693550 149693550 single base substitution T C intron_variant OV-AU 6 149694780 149694780 single base substitution G C downstream_gene_variant OV-AU 6 149694780 149694780 single base substitution G C intron_variant OV-AU 6 149697622 149697622 single base substitution T A downstream_gene_variant OV-AU 6 149697622 149697622 single base substitution T A intron_variant OV-AU 6 149702306 149702306 single base substitution G A downstream_gene_variant OV-AU 6 149702306 149702306 single base substitution G A intron_variant OV-AU 6 149702520 149702520 single base substitution G C downstream_gene_variant OV-AU 6 149702520 149702520 single base substitution G C intron_variant OV-AU 6 149703001 149703001 single base substitution C A downstream_gene_variant OV-AU 6 149703001 149703001 single base substitution C A intron_variant OV-AU 6 149713569 149713569 single base substitution C G intron_variant OV-AU 6 149713887 149713887 single base substitution T A intron_variant OV-AU 6 149713887 149713887 single base substitution T A upstream_gene_variant OV-AU 6 149728459 149728459 single base substitution A C intron_variant OV-AU 6 149732039 149732039 single base substitution G A 3_prime_UTR_variant OV-AU 6 149732039 149732039 single base substitution G A downstream_gene_variant OV-AU 6 149735694 149735694 single base substitution T A downstream_gene_variant PACA-AU 6 149538849 149538849 single base substitution C T upstream_gene_variant PACA-AU 6 149543463 149543463 single base substitution A T intron_variant PACA-AU 6 149547578 149547578 single base substitution C T intron_variant PACA-AU 6 149553124 149553124 single base substitution G A intron_variant PACA-AU 6 149554045 149554045 single base substitution G C intron_variant PACA-AU 6 149558672 149558672 single base substitution G A intron_variant PACA-AU 6 149558894 149558894 single base substitution G T intron_variant PACA-AU 6 149563759 149563759 single base substitution C T intron_variant PACA-AU 6 149566775 149566775 single base substitution C T intron_variant PACA-AU 6 149567181 149567181 single base substitution A G intron_variant PACA-AU 6 149570716 149570716 single base substitution C T intron_variant PACA-AU 6 149570995 149570995 single base substitution T A intron_variant PACA-AU 6 149571354 149571356 deletion of <=200bp AAG - intron_variant PACA-AU 6 149579738 149579738 single base substitution A G intron_variant PACA-AU 6 149581853 149581853 single base substitution G A intron_variant PACA-AU 6 149592007 149592007 single base substitution A G intron_variant PACA-AU 6 149592364 149592364 single base substitution T A intron_variant PACA-AU 6 149593866 149593866 single base substitution C A intron_variant PACA-AU 6 149598257 149598257 single base substitution T C intron_variant PACA-AU 6 149616978 149616978 single base substitution G A intron_variant PACA-AU 6 149617032 149617032 single base substitution C T intron_variant PACA-AU 6 149618843 149618843 deletion of <=200bp T - intron_variant PACA-AU 6 149620708 149620708 insertion of <=200bp - A intron_variant PACA-AU 6 149628129 149628129 single base substitution G C intron_variant PACA-AU 6 149629656 149629656 single base substitution A G intron_variant PACA-AU 6 149635590 149635590 single base substitution A T intron_variant PACA-AU 6 149635590 149635590 single base substitution A T upstream_gene_variant PACA-AU 6 149657662 149657662 insertion of <=200bp - GAAGAGACACA intron_variant PACA-AU 6 149662032 149662032 single base substitution T A intron_variant PACA-AU 6 149662032 149662032 single base substitution T A upstream_gene_variant PACA-AU 6 149663399 149663399 single base substitution G A intron_variant PACA-AU 6 149663399 149663399 single base substitution G A upstream_gene_variant PACA-AU 6 149666368 149666368 insertion of <=200bp - TG intron_variant PACA-AU 6 149671434 149671434 single base substitution G A downstream_gene_variant PACA-AU 6 149671434 149671434 single base substitution G A intron_variant PACA-AU 6 149678564 149678564 single base substitution A C intron_variant PACA-AU 6 149680837 149680837 single base substitution C G intron_variant PACA-AU 6 149683522 149683522 single base substitution C T intron_variant PACA-AU 6 149692232 149692232 single base substitution C T intron_variant PACA-AU 6 149693349 149693349 single base substitution C T intron_variant PACA-AU 6 149693404 149693404 single base substitution A G intron_variant PACA-AU 6 149696978 149696978 single base substitution A T downstream_gene_variant PACA-AU 6 149696978 149696978 single base substitution A T intron_variant PACA-AU 6 149707187 149707187 single base substitution C G intron_variant PACA-AU 6 149708156 149708156 single base substitution C T intron_variant PACA-AU 6 149712484 149712484 deletion of <=200bp T - intron_variant PACA-AU 6 149717807 149717807 deletion of <=200bp T - intron_variant PACA-AU 6 149717807 149717807 deletion of <=200bp T - upstream_gene_variant PACA-AU 6 149720184 149720184 single base substitution A G intron_variant PACA-AU 6 149721744 149721744 single base substitution C A intron_variant PACA-AU 6 149722160 149722160 single base substitution T C intron_variant PACA-AU 6 149724451 149724451 single base substitution C T intron_variant PACA-AU 6 149729295 149729295 single base substitution A G intron_variant PACA-AU 6 149729296 149729296 single base substitution G T intron_variant PACA-AU 6 149734691 149734691 single base substitution A G downstream_gene_variant PACA-AU 6 149735498 149735498 single base substitution C T downstream_gene_variant PACA-AU 6 149735509 149735509 single base substitution T C downstream_gene_variant PACA-CA 6 149535013 149535013 single base substitution C A upstream_gene_variant PACA-CA 6 149538293 149538293 single base substitution C G upstream_gene_variant PACA-CA 6 149541170 149541170 single base substitution A G intron_variant PACA-CA 6 149543333 149543333 single base substitution T C intron_variant PACA-CA 6 149545702 149545702 single base substitution G T intron_variant PACA-CA 6 149547336 149547336 single base substitution G A intron_variant PACA-CA 6 149549261 149549261 single base substitution A T intron_variant PACA-CA 6 149549750 149549750 single base substitution G C intron_variant PACA-CA 6 149550728 149550728 single base substitution C T intron_variant PACA-CA 6 149551208 149551208 single base substitution A G intron_variant PACA-CA 6 149551283 149551286 deletion of <=200bp AAAC - intron_variant PACA-CA 6 149552849 149552849 single base substitution G A intron_variant PACA-CA 6 149555355 149555355 single base substitution A T intron_variant PACA-CA 6 149555431 149555431 single base substitution G C intron_variant PACA-CA 6 149558305 149558305 single base substitution T C intron_variant PACA-CA 6 149558856 149558856 single base substitution C T intron_variant PACA-CA 6 149562125 149562125 single base substitution G T intron_variant PACA-CA 6 149566916 149566916 single base substitution T C intron_variant PACA-CA 6 149568534 149568534 single base substitution G A intron_variant PACA-CA 6 149569014 149569014 single base substitution G C intron_variant PACA-CA 6 149569626 149569626 single base substitution G A intron_variant PACA-CA 6 149570289 149570289 single base substitution T C intron_variant PACA-CA 6 149572434 149572434 single base substitution T C intron_variant PACA-CA 6 149575968 149575968 single base substitution A G intron_variant PACA-CA 6 149576762 149576762 single base substitution G T intron_variant PACA-CA 6 149577503 149577503 single base substitution T G intron_variant PACA-CA 6 149582831 149582831 single base substitution A C intron_variant PACA-CA 6 149583748 149583748 single base substitution G T intron_variant PACA-CA 6 149583887 149583887 single base substitution A T intron_variant PACA-CA 6 149586301 149586301 single base substitution C T intron_variant PACA-CA 6 149587144 149587144 single base substitution T C intron_variant PACA-CA 6 149589709 149589709 single base substitution G A intron_variant PACA-CA 6 149593480 149593480 single base substitution A G intron_variant PACA-CA 6 149597127 149597127 single base substitution G A intron_variant PACA-CA 6 149598490 149598490 insertion of <=200bp - A intron_variant PACA-CA 6 149607067 149607067 single base substitution G C intron_variant PACA-CA 6 149608324 149608324 single base substitution T G intron_variant PACA-CA 6 149612997 149612997 insertion of <=200bp - A intron_variant PACA-CA 6 149621396 149621396 single base substitution C T intron_variant PACA-CA 6 149621923 149621923 deletion of <=200bp G - intron_variant PACA-CA 6 149623055 149623055 single base substitution A G intron_variant PACA-CA 6 149628962 149628962 single base substitution A G intron_variant PACA-CA 6 149631705 149631705 insertion of <=200bp - A intron_variant PACA-CA 6 149631919 149631919 single base substitution A T intron_variant PACA-CA 6 149632575 149632575 single base substitution G A intron_variant PACA-CA 6 149632624 149632624 single base substitution C T intron_variant PACA-CA 6 149634045 149634045 single base substitution G T intron_variant PACA-CA 6 149638008 149638008 single base substitution G T intron_variant PACA-CA 6 149638008 149638008 single base substitution G T upstream_gene_variant PACA-CA 6 149639863 149639863 single base substitution T A exon_variant PACA-CA 6 149639863 149639863 single base substitution T A intron_variant PACA-CA 6 149639863 149639863 single base substitution T A upstream_gene_variant PACA-CA 6 149645048 149645048 single base substitution C T intron_variant PACA-CA 6 149646110 149646110 single base substitution T A intron_variant PACA-CA 6 149647957 149647957 single base substitution T C intron_variant PACA-CA 6 149648025 149648025 single base substitution G T intron_variant PACA-CA 6 149649323 149649323 single base substitution C T intron_variant PACA-CA 6 149651203 149651203 single base substitution T C intron_variant PACA-CA 6 149662938 149662938 single base substitution G C intron_variant PACA-CA 6 149662938 149662938 single base substitution G C upstream_gene_variant PACA-CA 6 149666974 149666974 single base substitution T A intron_variant PACA-CA 6 149672838 149672838 single base substitution A G downstream_gene_variant PACA-CA 6 149672838 149672838 single base substitution A G intron_variant PACA-CA 6 149698492 149698492 deletion of <=200bp T - downstream_gene_variant PACA-CA 6 149698492 149698492 deletion of <=200bp T - intron_variant PACA-CA 6 149699323 149699323 single base substitution G T exon_variant PACA-CA 6 149699323 149699323 single base substitution G T missense_variant G17V 50G>T PACA-CA 6 149699323 149699323 single base substitution G T missense_variant G59V 176G>T PACA-CA 6 149699323 149699323 single base substitution G T missense_variant G91V 272G>T PACA-CA 6 149708159 149708159 single base substitution G T intron_variant PACA-CA 6 149708252 149708252 single base substitution C G intron_variant PACA-CA 6 149712615 149712615 single base substitution C T intron_variant PACA-CA 6 149714177 149714177 single base substitution G A intron_variant PACA-CA 6 149714177 149714177 single base substitution G A upstream_gene_variant PACA-CA 6 149715454 149715454 deletion of <=200bp T - intron_variant PACA-CA 6 149715454 149715454 deletion of <=200bp T - upstream_gene_variant PACA-CA 6 149721537 149721537 single base substitution G C intron_variant PACA-CA 6 149722429 149722429 single base substitution G A intron_variant PACA-CA 6 149724795 149724795 single base substitution A G intron_variant PACA-CA 6 149730264 149730264 single base substitution G A intron_variant PAEN-AU 6 149542736 149542736 single base substitution G A intron_variant PAEN-AU 6 149579157 149579157 single base substitution G A intron_variant PAEN-AU 6 149705287 149705287 single base substitution T G downstream_gene_variant PAEN-AU 6 149705287 149705287 single base substitution T G intron_variant PAEN-AU 6 149706968 149706968 single base substitution A T intron_variant PAEN-AU 6 149709095 149709095 single base substitution A G intron_variant PAEN-AU 6 149729295 149729295 single base substitution A G intron_variant PAEN-AU 6 149733116 149733116 single base substitution G C downstream_gene_variant PAEN-IT 6 149569294 149569294 single base substitution G A intron_variant PAEN-IT 6 149575256 149575256 single base substitution G A intron_variant PAEN-IT 6 149575257 149575257 single base substitution A C intron_variant PAEN-IT 6 149621332 149621332 single base substitution G A intron_variant PAEN-IT 6 149626756 149626756 single base substitution C T intron_variant PAEN-IT 6 149700962 149700962 single base substitution G A downstream_gene_variant PAEN-IT 6 149700962 149700962 single base substitution G A intron_variant PAEN-IT 6 149706222 149706222 single base substitution C G intron_variant PBCA-DE 6 149535833 149535833 single base substitution C G upstream_gene_variant PBCA-DE 6 149540704 149540704 insertion of <=200bp - T intron_variant PBCA-DE 6 149544162 149544162 single base substitution T A intron_variant PBCA-DE 6 149545733 149545733 single base substitution T A intron_variant PBCA-DE 6 149552104 149552104 single base substitution A G intron_variant PBCA-DE 6 149553342 149553342 single base substitution C A intron_variant PBCA-DE 6 149558839 149558839 single base substitution G T intron_variant PBCA-DE 6 149560027 149560027 single base substitution C T intron_variant PBCA-DE 6 149564718 149564718 single base substitution C T intron_variant PBCA-DE 6 149568231 149568231 single base substitution G A intron_variant PBCA-DE 6 149571599 149571599 single base substitution G A intron_variant PBCA-DE 6 149575886 149575886 single base substitution C T intron_variant PBCA-DE 6 149580261 149580261 single base substitution G T intron_variant PBCA-DE 6 149597343 149597343 single base substitution G C intron_variant PBCA-DE 6 149607979 149607979 single base substitution C T intron_variant PBCA-DE 6 149609043 149609043 single base substitution C T intron_variant PBCA-DE 6 149618093 149618093 single base substitution T C intron_variant PBCA-DE 6 149630418 149630418 single base substitution G A intron_variant PBCA-DE 6 149630999 149631000 deletion of <=200bp TG - intron_variant PBCA-DE 6 149636037 149636037 single base substitution G A intron_variant PBCA-DE 6 149636037 149636037 single base substitution G A upstream_gene_variant PBCA-DE 6 149645179 149645179 single base substitution C T intron_variant PBCA-DE 6 149649334 149649334 single base substitution G A intron_variant PBCA-DE 6 149654845 149654846 deletion of <=200bp GT - intron_variant PBCA-DE 6 149655030 149655030 single base substitution G A intron_variant PBCA-DE 6 149658266 149658266 single base substitution T C intron_variant PBCA-DE 6 149665132 149665132 single base substitution T A intron_variant PBCA-DE 6 149687050 149687050 single base substitution T G intron_variant PBCA-DE 6 149687050 149687050 single base substitution T G upstream_gene_variant PBCA-DE 6 149688090 149688090 single base substitution A C intron_variant PBCA-DE 6 149688090 149688090 single base substitution A C upstream_gene_variant PBCA-DE 6 149693320 149693320 insertion of <=200bp - A intron_variant PBCA-DE 6 149694186 149694186 single base substitution C A downstream_gene_variant PBCA-DE 6 149694186 149694186 single base substitution C A intron_variant PBCA-DE 6 149696649 149696649 single base substitution G C downstream_gene_variant PBCA-DE 6 149696649 149696649 single base substitution G C intron_variant PBCA-DE 6 149713101 149713101 single base substitution C T intron_variant PBCA-DE 6 149716002 149716002 single base substitution T A intron_variant PBCA-DE 6 149716002 149716002 single base substitution T A upstream_gene_variant PBCA-DE 6 149719400 149719400 single base substitution G A intron_variant PBCA-DE 6 149722334 149722334 deletion of <=200bp A - intron_variant PBCA-DE 6 149723651 149723651 single base substitution C A intron_variant PBCA-DE 6 149725809 149725809 single base substitution A C intron_variant PRAD-CA 6 149568077 149568077 single base substitution C T intron_variant PRAD-CA 6 149569584 149569584 single base substitution G A intron_variant PRAD-CA 6 149569587 149569587 single base substitution G A intron_variant PRAD-CA 6 149569881 149569881 single base substitution C T intron_variant PRAD-CA 6 149600996 149600996 single base substitution C T intron_variant PRAD-CA 6 149623769 149623769 single base substitution C G intron_variant PRAD-CA 6 149632037 149632037 single base substitution A G intron_variant PRAD-CA 6 149632563 149632563 single base substitution C A intron_variant PRAD-CA 6 149642952 149642952 single base substitution T G intron_variant PRAD-CA 6 149701594 149701594 single base substitution T G downstream_gene_variant PRAD-CA 6 149701594 149701594 single base substitution T G intron_variant PRAD-CA 6 149703949 149703949 single base substitution A G downstream_gene_variant PRAD-CA 6 149703949 149703949 single base substitution A G intron_variant PRAD-CA 6 149706624 149706624 single base substitution T G intron_variant PRAD-CA 6 149719280 149719280 single base substitution A T intron_variant PRAD-CA 6 149724433 149724433 single base substitution T C intron_variant PRAD-CA 6 149724467 149724467 single base substitution C T intron_variant PRAD-UK 6 149536884 149536884 single base substitution G A upstream_gene_variant PRAD-UK 6 149537417 149537417 single base substitution T C upstream_gene_variant PRAD-UK 6 149549671 149549671 single base substitution C T intron_variant PRAD-UK 6 149555457 149555457 single base substitution C G intron_variant PRAD-UK 6 149558523 149558523 single base substitution G T intron_variant PRAD-UK 6 149560580 149560580 single base substitution C G intron_variant PRAD-UK 6 149569013 149569013 single base substitution A C intron_variant PRAD-UK 6 149571311 149571311 single base substitution A T intron_variant PRAD-UK 6 149573858 149573858 single base substitution C A intron_variant PRAD-UK 6 149586481 149586481 single base substitution C T intron_variant PRAD-UK 6 149612726 149612726 single base substitution G T intron_variant PRAD-UK 6 149620147 149620147 single base substitution T A intron_variant PRAD-UK 6 149642068 149642068 single base substitution A C intron_variant PRAD-UK 6 149642068 149642068 single base substitution A C upstream_gene_variant PRAD-UK 6 149664806 149664807 deletion of <=200bp CA - intron_variant PRAD-UK 6 149692676 149692690 deletion of <=200bp AACCAAACTGAGTTC - intron_variant PRAD-UK 6 149709053 149709053 single base substitution C T intron_variant PRAD-UK 6 149736534 149736534 single base substitution T A downstream_gene_variant PRAD-UK 6 149737632 149737632 single base substitution T C downstream_gene_variant PRAD-US 6 149700269 149700269 single base substitution A G downstream_gene_variant PRAD-US 6 149700269 149700269 single base substitution A G exon_variant PRAD-US 6 149700269 149700269 single base substitution A G synonymous_variant T374T 1122A>G PRAD-US 6 149700269 149700269 single base substitution A G synonymous_variant T406T 1218A>G READ-US 6 149691206 149691206 single base substitution G A exon_variant READ-US 6 149691206 149691206 single base substitution G A intron_variant READ-US 6 149691206 149691206 single base substitution G A missense_variant E25K 73G>A READ-US 6 149699662 149699662 single base substitution T A exon_variant READ-US 6 149699662 149699662 single base substitution T A missense_variant V130E 389T>A READ-US 6 149699662 149699662 single base substitution T A missense_variant V172E 515T>A READ-US 6 149699662 149699662 single base substitution T A missense_variant V204E 611T>A RECA-CN 6 149699806 149699806 single base substitution A T downstream_gene_variant RECA-CN 6 149699806 149699806 single base substitution A T exon_variant RECA-CN 6 149699806 149699806 single base substitution A T missense_variant Q220L 659A>T RECA-CN 6 149699806 149699806 single base substitution A T missense_variant Q252L 755A>T RECA-EU 6 149534970 149534970 single base substitution G A upstream_gene_variant RECA-EU 6 149539624 149539624 single base substitution C T upstream_gene_variant RECA-EU 6 149552171 149552171 single base substitution C T intron_variant RECA-EU 6 149554424 149554424 single base substitution C G intron_variant RECA-EU 6 149561286 149561286 single base substitution A G intron_variant RECA-EU 6 149566004 149566004 single base substitution A G intron_variant RECA-EU 6 149566985 149566985 single base substitution A C intron_variant RECA-EU 6 149574770 149574770 single base substitution A G intron_variant RECA-EU 6 149575281 149575281 single base substitution G A intron_variant RECA-EU 6 149589823 149589823 single base substitution G A intron_variant RECA-EU 6 149590372 149590372 single base substitution A T intron_variant RECA-EU 6 149592892 149592892 single base substitution G T intron_variant RECA-EU 6 149598134 149598134 single base substitution A T intron_variant RECA-EU 6 149599163 149599163 single base substitution G A intron_variant RECA-EU 6 149600552 149600552 single base substitution T C intron_variant RECA-EU 6 149601210 149601210 single base substitution T A intron_variant RECA-EU 6 149604683 149604683 single base substitution T A intron_variant RECA-EU 6 149604687 149604687 single base substitution A T intron_variant RECA-EU 6 149606427 149606427 single base substitution T A intron_variant RECA-EU 6 149608189 149608189 single base substitution T C intron_variant RECA-EU 6 149611410 149611410 single base substitution T G intron_variant RECA-EU 6 149616144 149616144 single base substitution A T intron_variant RECA-EU 6 149628499 149628499 single base substitution T A intron_variant RECA-EU 6 149640927 149640927 single base substitution T A intron_variant RECA-EU 6 149640927 149640927 single base substitution T A upstream_gene_variant RECA-EU 6 149665005 149665005 single base substitution G C intron_variant RECA-EU 6 149665801 149665801 single base substitution T C intron_variant RECA-EU 6 149680733 149680733 single base substitution A T intron_variant RECA-EU 6 149680937 149680937 single base substitution C A intron_variant RECA-EU 6 149683609 149683609 single base substitution G T intron_variant RECA-EU 6 149690105 149690105 single base substitution C A intron_variant RECA-EU 6 149690105 149690105 single base substitution C A upstream_gene_variant RECA-EU 6 149700153 149700153 single base substitution T C downstream_gene_variant RECA-EU 6 149700153 149700153 single base substitution T C exon_variant RECA-EU 6 149700153 149700153 single base substitution T C missense_variant Y336H 1006T>C RECA-EU 6 149700153 149700153 single base substitution T C missense_variant Y368H 1102T>C RECA-EU 6 149711958 149711958 single base substitution T A intron_variant RECA-EU 6 149721768 149721768 single base substitution G A intron_variant RECA-EU 6 149733015 149733015 single base substitution C G downstream_gene_variant SKCA-BR 6 149534880 149534880 single base substitution A G upstream_gene_variant SKCA-BR 6 149536986 149536986 single base substitution A C upstream_gene_variant SKCA-BR 6 149537039 149537039 single base substitution A C upstream_gene_variant SKCA-BR 6 149540442 149540442 insertion of <=200bp - TTGTGTG intron_variant SKCA-BR 6 149540442 149540448 deletion of <=200bp TTGTGTG - intron_variant SKCA-BR 6 149541974 149541974 single base substitution A T intron_variant SKCA-BR 6 149547215 149547215 single base substitution C G intron_variant SKCA-BR 6 149547473 149547473 single base substitution C T intron_variant SKCA-BR 6 149549194 149549194 single base substitution C T intron_variant SKCA-BR 6 149555504 149555504 single base substitution A T intron_variant SKCA-BR 6 149556000 149556000 insertion of <=200bp - GAAAAA intron_variant SKCA-BR 6 149556000 149556000 insertion of <=200bp - GA intron_variant SKCA-BR 6 149560291 149560291 single base substitution C T intron_variant SKCA-BR 6 149561369 149561369 single base substitution C T intron_variant SKCA-BR 6 149563429 149563429 single base substitution C G intron_variant SKCA-BR 6 149569389 149569389 single base substitution G A intron_variant SKCA-BR 6 149569560 149569560 insertion of <=200bp - AAAGGAAGGAAGGAAGG intron_variant SKCA-BR 6 149569588 149569588 single base substitution A G intron_variant SKCA-BR 6 149569591 149569591 single base substitution A G intron_variant SKCA-BR 6 149569815 149569815 single base substitution T C intron_variant SKCA-BR 6 149569958 149569958 single base substitution A C intron_variant SKCA-BR 6 149570171 149570171 insertion of <=200bp - CTA intron_variant SKCA-BR 6 149571491 149571500 deletion of <=200bp TAATGCAATG - intron_variant SKCA-BR 6 149575076 149575078 deletion of <=200bp AAG - intron_variant SKCA-BR 6 149575096 149575096 single base substitution A G intron_variant SKCA-BR 6 149575098 149575098 single base substitution G A intron_variant SKCA-BR 6 149575195 149575195 insertion of <=200bp - GAGGA intron_variant SKCA-BR 6 149579867 149579867 single base substitution C T intron_variant SKCA-BR 6 149580470 149580470 insertion of <=200bp - TACACACAC intron_variant SKCA-BR 6 149580510 149580510 single base substitution T C intron_variant SKCA-BR 6 149581013 149581013 single base substitution A G intron_variant SKCA-BR 6 149581440 149581440 single base substitution G A intron_variant SKCA-BR 6 149586234 149586234 insertion of <=200bp - GAAA intron_variant SKCA-BR 6 149586234 149586234 insertion of <=200bp - GAA intron_variant SKCA-BR 6 149586694 149586694 single base substitution C T intron_variant SKCA-BR 6 149586782 149586782 single base substitution G A intron_variant SKCA-BR 6 149587194 149587194 single base substitution A G intron_variant SKCA-BR 6 149589131 149589131 single base substitution C T intron_variant SKCA-BR 6 149591388 149591388 single base substitution T C intron_variant SKCA-BR 6 149592963 149592963 single base substitution A T intron_variant SKCA-BR 6 149593250 149593250 single base substitution G A intron_variant SKCA-BR 6 149596176 149596176 single base substitution A G intron_variant SKCA-BR 6 149596231 149596231 single base substitution T A intron_variant SKCA-BR 6 149596275 149596275 single base substitution T A intron_variant SKCA-BR 6 149596740 149596740 single base substitution G A intron_variant SKCA-BR 6 149599896 149599896 single base substitution G C intron_variant SKCA-BR 6 149599904 149599904 single base substitution G A intron_variant SKCA-BR 6 149600386 149600386 single base substitution C G intron_variant SKCA-BR 6 149600851 149600851 single base substitution C T intron_variant SKCA-BR 6 149601285 149601285 single base substitution C T intron_variant SKCA-BR 6 149604550 149604550 single base substitution G A intron_variant SKCA-BR 6 149604720 149604720 single base substitution C T intron_variant SKCA-BR 6 149605440 149605440 single base substitution C T intron_variant SKCA-BR 6 149606706 149606706 single base substitution C T intron_variant SKCA-BR 6 149606871 149606871 single base substitution T G intron_variant SKCA-BR 6 149607938 149607938 single base substitution G A intron_variant SKCA-BR 6 149619383 149619383 single base substitution G A intron_variant SKCA-BR 6 149620838 149620838 single base substitution C T intron_variant SKCA-BR 6 149620894 149620894 single base substitution C T intron_variant SKCA-BR 6 149621946 149621946 single base substitution C T intron_variant SKCA-BR 6 149625346 149625346 single base substitution C T intron_variant SKCA-BR 6 149627693 149627695 deletion of <=200bp CAA - intron_variant SKCA-BR 6 149629166 149629166 single base substitution C T intron_variant SKCA-BR 6 149629657 149629657 single base substitution C T intron_variant SKCA-BR 6 149629939 149629939 single base substitution G A intron_variant SKCA-BR 6 149630596 149630596 single base substitution A G intron_variant SKCA-BR 6 149631954 149631954 single base substitution C T intron_variant SKCA-BR 6 149636620 149636620 single base substitution T C intron_variant SKCA-BR 6 149636620 149636620 single base substitution T C upstream_gene_variant SKCA-BR 6 149638343 149638343 single base substitution T G intron_variant SKCA-BR 6 149638343 149638343 single base substitution T G upstream_gene_variant SKCA-BR 6 149638364 149638364 single base substitution A C intron_variant SKCA-BR 6 149638364 149638364 single base substitution A C upstream_gene_variant SKCA-BR 6 149638899 149638899 single base substitution T C intron_variant SKCA-BR 6 149638899 149638899 single base substitution T C upstream_gene_variant SKCA-BR 6 149638904 149638904 single base substitution T C intron_variant SKCA-BR 6 149638904 149638904 single base substitution T C upstream_gene_variant SKCA-BR 6 149638910 149638910 single base substitution T C intron_variant SKCA-BR 6 149638910 149638910 single base substitution T C upstream_gene_variant SKCA-BR 6 149639098 149639101 deletion of <=200bp AGGC - 5_prime_UTR_variant SKCA-BR 6 149639098 149639101 deletion of <=200bp AGGC - intron_variant SKCA-BR 6 149639098 149639101 deletion of <=200bp AGGC - upstream_gene_variant SKCA-BR 6 149639224 149639224 single base substitution T C intron_variant SKCA-BR 6 149639224 149639224 single base substitution T C upstream_gene_variant SKCA-BR 6 149639851 149639851 single base substitution T G exon_variant SKCA-BR 6 149639851 149639851 single base substitution T G intron_variant SKCA-BR 6 149639851 149639851 single base substitution T G upstream_gene_variant SKCA-BR 6 149645962 149645962 insertion of <=200bp - CT intron_variant SKCA-BR 6 149654844 149654844 insertion of <=200bp - AGTGTGT intron_variant SKCA-BR 6 149654844 149654844 insertion of <=200bp - AGT intron_variant SKCA-BR 6 149658715 149658715 single base substitution T C intron_variant SKCA-BR 6 149660069 149660069 single base substitution G A intron_variant SKCA-BR 6 149660069 149660069 single base substitution G A upstream_gene_variant SKCA-BR 6 149660268 149660268 single base substitution G A intron_variant SKCA-BR 6 149660268 149660268 single base substitution G A upstream_gene_variant SKCA-BR 6 149660726 149660729 deletion of <=200bp TTTA - intron_variant SKCA-BR 6 149660726 149660729 deletion of <=200bp TTTA - upstream_gene_variant SKCA-BR 6 149660740 149660741 deletion of <=200bp TA - intron_variant SKCA-BR 6 149660740 149660741 deletion of <=200bp TA - upstream_gene_variant SKCA-BR 6 149660927 149660927 single base substitution G T intron_variant SKCA-BR 6 149660927 149660927 single base substitution G T upstream_gene_variant SKCA-BR 6 149664429 149664429 single base substitution A C intron_variant SKCA-BR 6 149664638 149664638 single base substitution C T intron_variant SKCA-BR 6 149665151 149665151 single base substitution C T intron_variant SKCA-BR 6 149666016 149666016 single base substitution A G intron_variant SKCA-BR 6 149667584 149667584 insertion of <=200bp - CT intron_variant SKCA-BR 6 149669407 149669407 single base substitution C T downstream_gene_variant SKCA-BR 6 149669407 149669407 single base substitution C T intron_variant SKCA-BR 6 149671698 149671698 single base substitution G T downstream_gene_variant SKCA-BR 6 149671698 149671698 single base substitution G T intron_variant SKCA-BR 6 149676155 149676155 single base substitution A G intron_variant SKCA-BR 6 149676803 149676804 deletion of <=200bp CA - intron_variant SKCA-BR 6 149678568 149678568 single base substitution C A intron_variant SKCA-BR 6 149683013 149683013 single base substitution C T intron_variant SKCA-BR 6 149686116 149686116 single base substitution G A intron_variant SKCA-BR 6 149686116 149686116 single base substitution G A upstream_gene_variant SKCA-BR 6 149688089 149688089 insertion of <=200bp - AC intron_variant SKCA-BR 6 149688089 149688089 insertion of <=200bp - AC upstream_gene_variant SKCA-BR 6 149688090 149688090 single base substitution A C intron_variant SKCA-BR 6 149688090 149688090 single base substitution A C upstream_gene_variant SKCA-BR 6 149689815 149689815 insertion of <=200bp - GT intron_variant SKCA-BR 6 149689815 149689815 insertion of <=200bp - GT upstream_gene_variant SKCA-BR 6 149689817 149689817 single base substitution T C intron_variant SKCA-BR 6 149689817 149689817 single base substitution T C upstream_gene_variant SKCA-BR 6 149699523 149699523 single base substitution C T exon_variant SKCA-BR 6 149699523 149699523 single base substitution C T missense_variant H126Y 376C>T SKCA-BR 6 149699523 149699523 single base substitution C T missense_variant H158Y 472C>T SKCA-BR 6 149699523 149699523 single base substitution C T missense_variant H84Y 250C>T SKCA-BR 6 149700216 149700216 single base substitution A G downstream_gene_variant SKCA-BR 6 149700216 149700216 single base substitution A G exon_variant SKCA-BR 6 149700216 149700216 single base substitution A G missense_variant I357V 1069A>G SKCA-BR 6 149700216 149700216 single base substitution A G missense_variant I389V 1165A>G SKCA-BR 6 149700577 149700577 single base substitution C T downstream_gene_variant SKCA-BR 6 149700577 149700577 single base substitution C T exon_variant SKCA-BR 6 149700577 149700577 single base substitution C T missense_variant P477L 1430C>T SKCA-BR 6 149700577 149700577 single base substitution C T missense_variant P509L 1526C>T SKCA-BR 6 149710815 149710816 deletion of <=200bp CT - intron_variant SKCA-BR 6 149720384 149720384 single base substitution C T intron_variant SKCA-BR 6 149724384 149724397 deletion of <=200bp ATATATATATATAT - intron_variant SKCA-BR 6 149724409 149724409 single base substitution T C intron_variant SKCA-BR 6 149724427 149724449 deletion of <=200bp CACACATATATATATATATATAT - intron_variant SKCA-BR 6 149724473 149724483 deletion of <=200bp TATACACACAC - intron_variant SKCA-BR 6 149728912 149728913 deletion of <=200bp TA - intron_variant SKCA-BR 6 149729053 149729053 single base substitution A T intron_variant SKCA-BR 6 149734124 149734129 deletion of <=200bp AAAAAT - downstream_gene_variant SKCA-BR 6 149735680 149735680 single base substitution G A downstream_gene_variant SKCA-BR 6 149735688 149735688 single base substitution A T downstream_gene_variant SKCA-BR 6 149735690 149735690 insertion of <=200bp - ATT downstream_gene_variant SKCA-BR 6 149735691 149735692 deletion of <=200bp TA - downstream_gene_variant SKCA-BR 6 149736773 149736773 single base substitution T C downstream_gene_variant SKCA-BR 6 149737219 149737219 single base substitution A C downstream_gene_variant SKCA-BR 6 149737388 149737388 single base substitution T G downstream_gene_variant SKCM-US 6 149691193 149691193 single base substitution C T exon_variant SKCM-US 6 149691193 149691193 single base substitution C T intron_variant SKCM-US 6 149691193 149691193 single base substitution C T synonymous_variant F20F 60C>T SKCM-US 6 149691194 149691194 single base substitution C T exon_variant SKCM-US 6 149691194 149691194 single base substitution C T intron_variant SKCM-US 6 149691194 149691194 single base substitution C T missense_variant P21S 61C>T SKCM-US 6 149699271 149699271 single base substitution C T 5_prime_UTR_variant SKCM-US 6 149699271 149699271 single base substitution C T exon_variant SKCM-US 6 149699271 149699271 single base substitution C T missense_variant H42Y 124C>T SKCM-US 6 149699271 149699271 single base substitution C T missense_variant H74Y 220C>T SKCM-US 6 149699485 149699485 single base substitution C T exon_variant SKCM-US 6 149699485 149699485 single base substitution C T missense_variant S113F 338C>T SKCM-US 6 149699485 149699485 single base substitution C T missense_variant S145F 434C>T SKCM-US 6 149699485 149699485 single base substitution C T missense_variant S71F 212C>T SKCM-US 6 149699566 149699566 single base substitution C T exon_variant SKCM-US 6 149699566 149699566 single base substitution C T missense_variant P140L 419C>T SKCM-US 6 149699566 149699566 single base substitution C T missense_variant P172L 515C>T SKCM-US 6 149699566 149699566 single base substitution C T missense_variant P98L 293C>T SKCM-US 6 149699616 149699616 single base substitution C T exon_variant SKCM-US 6 149699616 149699616 single base substitution C T missense_variant R115C 343C>T SKCM-US 6 149699616 149699616 single base substitution C T missense_variant R157C 469C>T SKCM-US 6 149699616 149699616 single base substitution C T missense_variant R189C 565C>T SKCM-US 6 149700528 149700528 single base substitution C T downstream_gene_variant SKCM-US 6 149700528 149700528 single base substitution C T exon_variant SKCM-US 6 149700528 149700528 single base substitution C T missense_variant H461Y 1381C>T SKCM-US 6 149700528 149700528 single base substitution C T missense_variant H493Y 1477C>T SKCM-US 6 149720247 149720247 single base substitution T C 3_prime_UTR_variant SKCM-US 6 149720247 149720247 single base substitution T C exon_variant SKCM-US 6 149720247 149720247 single base substitution T C synonymous_variant H590H 1770T>C SKCM-US 6 149720247 149720247 single base substitution T C synonymous_variant H622H 1866T>C SKCM-US 6 149720314 149720314 single base substitution C T 3_prime_UTR_variant SKCM-US 6 149720314 149720314 single base substitution C T exon_variant SKCM-US 6 149720314 149720314 single base substitution C T missense_variant P613S 1837C>T SKCM-US 6 149720314 149720314 single base substitution C T missense_variant P645S 1933C>T SKCM-US 6 149721676 149721676 single base substitution C T intron_variant STAD-US 6 149699164 149699164 single base substitution A T 5_prime_UTR_variant STAD-US 6 149699164 149699164 single base substitution A T exon_variant STAD-US 6 149699164 149699164 single base substitution A T missense_variant N38I 113A>T STAD-US 6 149699164 149699164 single base substitution A T missense_variant N6I 17A>T STAD-US 6 149699487 149699487 single base substitution T C exon_variant STAD-US 6 149699487 149699487 single base substitution T C missense_variant S114P 340T>C STAD-US 6 149699487 149699487 single base substitution T C missense_variant S146P 436T>C STAD-US 6 149699487 149699487 single base substitution T C missense_variant S72P 214T>C STAD-US 6 149699659 149699659 single base substitution C T exon_variant STAD-US 6 149699659 149699659 single base substitution C T missense_variant P129L 386C>T STAD-US 6 149699659 149699659 single base substitution C T missense_variant P171L 512C>T STAD-US 6 149699659 149699659 single base substitution C T missense_variant P203L 608C>T STAD-US 6 149700256 149700256 single base substitution G A downstream_gene_variant STAD-US 6 149700256 149700256 single base substitution G A exon_variant STAD-US 6 149700256 149700256 single base substitution G A missense_variant R370Q 1109G>A STAD-US 6 149700256 149700256 single base substitution G A missense_variant R402Q 1205G>A STAD-US 6 149700267 149700267 single base substitution A G downstream_gene_variant STAD-US 6 149700267 149700267 single base substitution A G exon_variant STAD-US 6 149700267 149700267 single base substitution A G missense_variant T374A 1120A>G STAD-US 6 149700267 149700267 single base substitution A G missense_variant T406A 1216A>G STAD-US 6 149719193 149719193 single base substitution C T 3_prime_UTR_variant STAD-US 6 149719193 149719193 single base substitution C T exon_variant STAD-US 6 149719193 149719193 single base substitution C T missense_variant A586V 1757C>T STAD-US 6 149719193 149719193 single base substitution C T missense_variant A618V 1853C>T STAD-US 6 149721537 149721537 single base substitution G A intron_variant STAD-US 6 149721599 149721599 single base substitution A G intron_variant STAD-US 6 149721679 149721679 single base substitution G A intron_variant STAD-US 6 149721793 149721793 single base substitution A C intron_variant THCA-SA 6 149700491 149700491 single base substitution G A downstream_gene_variant THCA-SA 6 149700491 149700491 single base substitution G A exon_variant THCA-SA 6 149700491 149700491 single base substitution G A synonymous_variant V448V 1344G>A THCA-SA 6 149700491 149700491 single base substitution G A synonymous_variant V480V 1440G>A THCA-SA 6 149721554 149721554 single base substitution A C intron_variant THCA-SA 6 149730846 149730846 single base substitution G A 3_prime_UTR_variant THCA-SA 6 149730846 149730846 single base substitution G A downstream_gene_variant THCA-SA 6 149730846 149730846 single base substitution G A synonymous_variant R659R 1977G>A THCA-SA 6 149730846 149730846 single base substitution G A synonymous_variant R691R 2073G>A THCA-SA 6 149731904 149731904 single base substitution C T 3_prime_UTR_variant THCA-SA 6 149731904 149731904 single base substitution C T downstream_gene_variant UCEC-US 6 149699214 149699214 single base substitution T C 5_prime_UTR_variant UCEC-US 6 149699214 149699214 single base substitution T C exon_variant UCEC-US 6 149699214 149699214 single base substitution T C missense_variant Y23H 67T>C UCEC-US 6 149699214 149699214 single base substitution T C missense_variant Y55H 163T>C UCEC-US 6 149699331 149699331 single base substitution G T exon_variant UCEC-US 6 149699331 149699331 single base substitution G T stop_gained G20* 58G>T UCEC-US 6 149699331 149699331 single base substitution G T stop_gained G62* 184G>T UCEC-US 6 149699331 149699331 single base substitution G T stop_gained G94* 280G>T UCEC-US 6 149699613 149699613 single base substitution G T exon_variant UCEC-US 6 149699613 149699613 single base substitution G T missense_variant G114C 340G>T UCEC-US 6 149699613 149699613 single base substitution G T missense_variant G156C 466G>T UCEC-US 6 149699613 149699613 single base substitution G T missense_variant G188C 562G>T UCEC-US 6 149699953 149699953 single base substitution C T downstream_gene_variant UCEC-US 6 149699953 149699953 single base substitution C T exon_variant UCEC-US 6 149699953 149699953 single base substitution C T missense_variant S269F 806C>T UCEC-US 6 149699953 149699953 single base substitution C T missense_variant S301F 902C>T UCEC-US 6 149700040 149700040 single base substitution T G downstream_gene_variant UCEC-US 6 149700040 149700040 single base substitution T G exon_variant UCEC-US 6 149700040 149700040 single base substitution T G missense_variant L298R 893T>G UCEC-US 6 149700040 149700040 single base substitution T G missense_variant L330R 989T>G UCEC-US 6 149700064 149700064 single base substitution C A downstream_gene_variant UCEC-US 6 149700064 149700064 single base substitution C A exon_variant UCEC-US 6 149700064 149700064 single base substitution C A missense_variant S306Y 917C>A UCEC-US 6 149700064 149700064 single base substitution C A missense_variant S338Y 1013C>A UCEC-US 6 149700167 149700167 single base substitution C T downstream_gene_variant UCEC-US 6 149700167 149700167 single base substitution C T exon_variant UCEC-US 6 149700167 149700167 single base substitution C T synonymous_variant S340S 1020C>T UCEC-US 6 149700167 149700167 single base substitution C T synonymous_variant S372S 1116C>T UCEC-US 6 149700376 149700376 single base substitution C T downstream_gene_variant UCEC-US 6 149700376 149700376 single base substitution C T exon_variant UCEC-US 6 149700376 149700376 single base substitution C T missense_variant A410V 1229C>T UCEC-US 6 149700376 149700376 single base substitution C T missense_variant A442V 1325C>T UCEC-US 6 149700405 149700405 single base substitution C T downstream_gene_variant UCEC-US 6 149700405 149700405 single base substitution C T exon_variant UCEC-US 6 149700405 149700405 single base substitution C T stop_gained R420* 1258C>T UCEC-US 6 149700405 149700405 single base substitution C T stop_gained R452* 1354C>T UCEC-US 6 149700439 149700439 single base substitution C T downstream_gene_variant UCEC-US 6 149700439 149700439 single base substitution C T exon_variant UCEC-US 6 149700439 149700439 single base substitution C T missense_variant T431I 1292C>T UCEC-US 6 149700439 149700439 single base substitution C T missense_variant T463I 1388C>T UCEC-US 6 149700469 149700469 single base substitution C T downstream_gene_variant UCEC-US 6 149700469 149700469 single base substitution C T exon_variant UCEC-US 6 149700469 149700469 single base substitution C T missense_variant P441L 1322C>T UCEC-US 6 149700469 149700469 single base substitution C T missense_variant P473L 1418C>T UCEC-US 6 149718860 149718860 single base substitution G T 3_prime_UTR_variant UCEC-US 6 149718860 149718860 single base substitution G T exon_variant UCEC-US 6 149718860 149718860 single base substitution G T missense_variant R543M 1628G>T UCEC-US 6 149718860 149718860 single base substitution G T missense_variant R575M 1724G>T UCEC-US 6 149719131 149719131 single base substitution T G 3_prime_UTR_variant UCEC-US 6 149719131 149719131 single base substitution T G exon_variant UCEC-US 6 149719131 149719131 single base substitution T G missense_variant S565R 1695T>G UCEC-US 6 149719131 149719131 single base substitution T G missense_variant S597R 1791T>G UCEC-US 6 149719195 149719195 single base substitution C T 3_prime_UTR_variant UCEC-US 6 149719195 149719195 single base substitution C T exon_variant UCEC-US 6 149719195 149719195 single base substitution C T stop_gained R587* 1759C>T UCEC-US 6 149719195 149719195 single base substitution C T stop_gained R619* 1855C>T UCEC-US 6 149721744 149721744 single base substitution C T intron_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 134427 COSM326618 c.661A>C p.T221P Substitution - Missense 6:149378576-149378576 + HCC49 COSM3662192 c.922G>T p.A308S Substitution - Missense 6:149378837-149378837 + OV207 COSM253107 c.416delT p.F140fs*20 Deletion - Frameshift 6:149378331-149378331 + HCC160T COSM3662193 c.2075A>G p.H692R Substitution - Missense 6:149409712-149409712 + TCGA-BR-8589-01 COSM3858969 c.113A>T p.N38I Substitution - Missense 6:149378028-149378028 + J74_T COSM3018592 c.1067A>G p.N356S Substitution - Missense 6:149378982-149378982 + TCGA-66-2758-01 COSM740660 c.1380G>A p.T460T Substitution - coding silent 6:149379295-149379295 + TCGA-AP-A0LG-01 COSM1074392 c.562G>T p.G188C Substitution - Missense 6:149378477-149378477 + sysucc-311T COSM5466703 c.1940-9T>C p.? Unknown 6:149409568-149409568 + TCGA-BT-A3PJ-01 COSM3777178 c.296G>T p.G99V Substitution - Missense 6:149378211-149378211 + TCGA-DK-A1AC-01 COSM1311652 c.1004G>C p.R335T Substitution - Missense 6:149378919-149378919 + LUAD-NYU284 COSM373253 c.169G>A p.E57K Substitution - Missense 6:149378084-149378084 + TCGA-B5-A0K2-01 COSM1074391 c.280G>T p.G94* Substitution - Nonsense 6:149378195-149378195 + TCGA-G2-A2EO-01 COSM1311653 c.1187G>C p.G396A Substitution - Missense 6:149379102-149379102 + TCGA-AZ-4315-01 COSM1441104 c.1404C>A p.V468V Substitution - coding silent 6:149379319-149379319 + TCGA-BR-6452-01 COSM3858971 c.608C>T p.P203L Substitution - Missense 6:149378523-149378523 + GCT19 COSM5749233 c.1307A>G p.H436R Substitution - Missense 6:149379222-149379222 + SJBALL020936_D1 COSM4993888 c.1596C>A p.Y532* Substitution - Nonsense 6:149379511-149379511 + TCGA-B5-A11E-01 COSM1074389 c.163T>C p.Y55H Substitution - Missense 6:149378078-149378078 + TCGA-BS-A0UM-01 COSM1074403 c.1919C>T p.P640L Substitution - Missense 6:149399164-149399164 + TCGA-FS-A1ZZ-06 COSM3621371 c.434C>T p.S145F Substitution - Missense 6:149378349-149378349 + CSCC-44-T COSM4529630 c.1628G>C p.R543T Substitution - Missense 6:149397628-149397628 + HCC58 COSM1621043 c.1351C>T p.P451S Substitution - Missense 6:149379266-149379266 + TCGA-BR-6452-01 COSM3858970 c.436T>C p.S146P Substitution - Missense 6:149378351-149378351 + HCC49T COSM3662192 c.922G>T p.A308S Substitution - Missense 6:149378837-149378837 + TCGA-DA-A1HV-06 COSM3621368 c.60C>T p.F20F Substitution - coding silent 6:149370057-149370057 + TCGA-C5-A1MK-01 COSM4826950 c.1241G>C p.G414A Substitution - Missense 6:149379156-149379156 + LUAD_E00522 COSM353412 c.1586A>T p.D529V Substitution - Missense 6:149379501-149379501 + TCGA-D1-A103-01 COSM1074399 c.1418C>T p.P473L Substitution - Missense 6:149379333-149379333 + 587224 COSM1228376 c.1024C>T p.R342C Substitution - Missense 6:149378939-149378939 + TCGA-G2-A2EO-01 COSM1311655 c.2064G>C p.E688D Substitution - Missense 6:149409701-149409701 + BRC35 COSM5026648 c.1397T>C p.I466T Substitution - Missense 6:149379312-149379312 + CHC1704T COSM4803931 c.1206G>C p.R402R Substitution - coding silent 6:149379121-149379121 + TCGA-EK-A3GJ-01 COSM4852455 c.518G>C p.R173T Substitution - Missense 6:149378433-149378433 + TCGA-C4-A0F7-01 COSM421042 c.1127C>T p.T376M Substitution - Missense 6:149379042-149379042 + CSCC-27-T COSM4466797 c.1452C>T p.T484T Substitution - coding silent 6:149379367-149379367 + TCGA-EE-A2MU-06 COSM3621374 c.1477C>T p.H493Y Substitution - Missense 6:149379392-149379392 + SJHYPO039 COSM4775629 c.2014G>A p.A672T Substitution - Missense 6:149409651-149409651 + TCGA-BS-A0UF-01 COSM1074397 c.1354C>T p.R452* Substitution - Nonsense 6:149379269-149379269 + TCGA-CA-6717-01 COSM1441105 c.1720C>T p.R574* Substitution - Nonsense 6:149397720-149397720 + TCGA-BR-6452-01 COSM3858973 c.1216A>G p.T406A Substitution - Missense 6:149379131-149379131 + T3024 COSM4731838 c.1666delA p.K557fs*5 Deletion - Frameshift 6:149397666-149397666 + CHC892T COSM4797421 c.1915G>A p.G639S Substitution - Missense 6:149399160-149399160 + TC71 COSM4586303 c.50G>A p.R17Q Substitution - Missense 6:149370047-149370047 + CSCC-31-T COSM3621368 c.60C>T p.F20F Substitution - coding silent 6:149370057-149370057 + RK090_C01 COSM3702904 c.1604-2A>G p.? Unknown 6:149397602-149397602 + CSCC-7-T COSM4469569 c.1606C>T p.L536F Substitution - Missense 6:149397606-149397606 + DN120F1 COSM3621373 c.565C>T p.R189C Substitution - Missense 6:149378480-149378480 + TCGA-EB-A41B-01 COSM3621370 c.220C>T p.H74Y Substitution - Missense 6:149378135-149378135 + HCC2998 COSM1672826 c.1726C>T p.R576C Substitution - Missense 6:149397726-149397726 + TCGA-EE-A3J5-06 COSM3621372 c.515C>T p.P172L Substitution - Missense 6:149378430-149378430 + TCGA-BG-A0M4-01 COSM1074390 c.271G>T p.G91* Substitution - Nonsense 6:149378186-149378186 + TCGA-D1-A163-01 COSM1074395 c.1116C>T p.S372S Substitution - coding silent 6:149379031-149379031 + TCGA-06-5858-01 COSM3410653 c.360A>G p.E120E Substitution - coding silent 6:149378275-149378275 + TCGA-BR-4280-01 COSM3858972 c.1205G>A p.R402Q Substitution - Missense 6:149379120-149379120 + CHC892T COSM4797421 c.1915G>A p.G639S Substitution - Missense 6:149399160-149399160 + HCC58T COSM1621043 c.1351C>T p.P451S Substitution - Missense 6:149379266-149379266 + SNUH_G73_S1 COSM4416236 c.1440G>A p.V480V Substitution - coding silent 6:149379355-149379355 + T368 COSM4731837 c.624A>T p.P208P Substitution - coding silent 6:149378539-149378539 + TCGA-MY-A5BD-01 COSM4855478 c.190G>C p.D64H Substitution - Missense 6:149378105-149378105 + TCGA-F5-6571-01 COSM1568020 c.611T>A p.V204E Substitution - Missense 6:149378526-149378526 + TCGA-D1-A17U-01 COSM1074400 c.1724G>T p.R575M Substitution - Missense 6:149397724-149397724 + S02255 COSM5680878 c.1764+1G>C p.? Unknown 6:149397765-149397765 + 034T COSM1728595 c.779C>T p.P260L Substitution - Missense 6:149378694-149378694 + Pat_14_A COSM5869491 c.7C>A p.Q3K Substitution - Missense 6:149370004-149370004 + TCGA-LP-A4AX-01 COSM4829804 c.1849C>G p.Q617E Substitution - Missense 6:149398053-149398053 + TCGA-EB-A431-01 COSM3621369 c.61C>T p.P21S Substitution - Missense 6:149370058-149370058 + PCSI_0218_Pa_P_526 COSM3781997 c.272G>T p.G91V Substitution - Missense 6:149378187-149378187 + 05-P8014 COSM4586304 c.147G>A p.E49E Substitution - coding silent 6:149378062-149378062 + HCC2998 COSM1672826 c.1726C>T p.R576C Substitution - Missense 6:149397726-149397726 + TCGA-AY-6197-01 COSM1441103 c.746A>G p.Q249R Substitution - Missense 6:149378661-149378661 + TCGA-AH-6643-01 COSM1568021 c.73G>A p.E25K Substitution - Missense 6:149370070-149370070 + TCGA-EE-A2GR-06 COSM3621373 c.565C>T p.R189C Substitution - Missense 6:149378480-149378480 + T3262 COSM4731839 c.2021delC p.T674fs*3 Deletion - Frameshift 6:149409658-149409658 + TCGA-J4-A6M7-01 COSM4391946 c.1218A>G p.T406T Substitution - coding silent 6:149379133-149379133 + PD13163a COSM3621373 c.565C>T p.R189C Substitution - Missense 6:149378480-149378480 + K75 COSM249378 c.677C>A p.T226N Substitution - Missense 6:149378592-149378592 + SA077 COSM213422 c.1739C>G p.S580* Substitution - Nonsense 6:149397739-149397739 + TCGA-A8-A07G-01 COSM450659 c.307_308insT p.T104fs*5 Insertion - Frameshift 6:149378222-149378223 + T2568 COSM4731836 c.199G>T p.G67* Substitution - Nonsense 6:149378114-149378114 + TCGA-D5-6531-01 COSM3697568 c.373G>A p.E125K Substitution - Missense 6:149378288-149378288 + MDA-MB-231 COSM1672824 c.745C>T p.Q249* Substitution - Nonsense 6:149378660-149378660 + TCGA-AO-A128-01 COSM3829271 c.928A>G p.S310G Substitution - Missense 6:149378843-149378843 + TCGA-B5-A0JY-01 COSM1074402 c.1855C>T p.R619* Substitution - Nonsense 6:149398059-149398059 + TCGA-FW-A3R5-06 COSM3920829 c.1866T>C p.H622H Substitution - coding silent 6:149399111-149399111 + C0016T COSM4155996 c.1102T>C p.Y368H Substitution - Missense 6:149379017-149379017 + TCGA-D1-A17Q-01 COSM206017 c.1013C>A p.S338Y Substitution - Missense 6:149378928-149378928 + HCC160 COSM3662193 c.2075A>G p.H692R Substitution - Missense 6:149409712-149409712 + TCGA-CF-A27C-01 COSM1311654 c.1569G>C p.L523L Substitution - coding silent 6:149379484-149379484 + 587342 COSM1228377 c.1318A>G p.S440G Substitution - Missense 6:149379233-149379233 + K27-Tumor COSM249624 c.755A>T p.Q252L Substitution - Missense 6:149378670-149378670 + TCGA-AX-A0J1-01 COSM1074398 c.1388C>T p.T463I Substitution - Missense 6:149379303-149379303 + HCC11T COSM1621042 c.935A>G p.Y312C Substitution - Missense 6:149378850-149378850 + K27 COSM249624 c.755A>T p.Q252L Substitution - Missense 6:149378670-149378670 + TCGA-ER-A193-06 COSM3621375 c.1933C>T p.P645S Substitution - Missense 6:149399178-149399178 + SNUH_G73_S1 COSM4415986 c.2073G>A p.R691R Substitution - coding silent 6:149409710-149409710 + Au5 COSM3621371 c.434C>T p.S145F Substitution - Missense 6:149378349-149378349 + CHC1065T COSM3669553 c.1431A>G p.S477S Substitution - coding silent 6:149379346-149379346 + TCGA-66-2734-01 COSM740661 c.1352C>A p.P451H Substitution - Missense 6:149379267-149379267 + Pat_05_A COSM421042 c.1127C>T p.T376M Substitution - Missense 6:149379042-149379042 + TCGA-F1-6177-01 COSM3858974 c.1853C>T p.A618V Substitution - Missense 6:149398057-149398057 + CHC1704T COSM4803931 c.1206G>C p.R402R Substitution - coding silent 6:149379121-149379121 + TCGA-AA-A00N-01 COSM277578 c.2047C>T p.R683C Substitution - Missense 6:149409684-149409684 + EGC28 COSM5061477 c.811C>T p.Q271* Substitution - Nonsense 6:149378726-149378726 + S02292 COSM5688073 c.1428T>A p.V476V Substitution - coding silent 6:149379343-149379343 + TCGA-BP-4985-01 COSM483516 c.62C>G p.P21R Substitution - Missense 6:149370059-149370059 + TCGA-AX-A0J1-01 COSM1074393 c.902C>T p.S301F Substitution - Missense 6:149378817-149378817 + TCGA-AP-A059-01 COSM1074396 c.1325C>T p.A442V Substitution - Missense 6:149379240-149379240 + IGROV-1 COSM1672825 c.1520C>T p.T507M Substitution - Missense 6:149379435-149379435 + HCC11 COSM1621042 c.935A>G p.Y312C Substitution - Missense 6:149378850-149378850 + CHOL15 COSM1744510 c.67G>A p.V23I Substitution - Missense 6:149370064-149370064 + TCGA-AX-A0J0-01 COSM1074394 c.989T>G p.L330R Substitution - Missense 6:149378904-149378904 + TCGA-AP-A059-01 COSM1074401 c.1791T>G p.S597R Substitution - Missense 6:149397995-149397995 + CHC1065T COSM3669553 c.1431A>G p.S477S Substitution - coding silent 6:149379346-149379346 + LS513 COSM4646936 c.1578A>T p.G526G Substitution - coding silent 6:149379493-149379493 + TCGA-37-5819-01 COSM740662 c.912A>G p.S304S Substitution - coding silent 6:149378827-149378827 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.269775 6q25.1 605101 1530624|dbSNP|BC035910|A/G|coding|Arg335Lys|1139|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.T221P c.661A>C 6 149699712 SCLC A G Missense p.I369V c.1105A>G 6 149700156 LUAD A G Synonymous p.S304S c.912A>G 6 149699963 LUSC A G Synonymous p.T406T c.1218A>G 6 149700269 PRAD C A Missense p.P451H c.1352C>A 6 149700403 LUSC C A Missense p.R576S c.1726C>A 6 149718862 ALL C G Missense p.P21R c.62C>G 6 149691195 RCCC C G Nonsense p.S580* c.1739C>G 6 149718875 BRCA C T Missense p.A618V c.1853C>T 6 149719193 STAD C T Missense p.H493Y c.1477C>T 6 149700528 CM C T Missense p.P172L c.515C>T 6 149699566 CM C T Missense p.P645S c.1933C>T 6 149720314 CM C T Missense p.R189C c.565C>T 6 149699616 CM C T Missense p.S145F c.434C>T 6 149699485 CM C T Missense p.S300L c.899C>T 6 149699950 HNSC C T Missense p.S447F c.1340C>T 6 149700391 HNSC C T Missense p.T376M c.1127C>T 6 149700178 BLCA C T Synonymous p.A418A c.1254C>T 6 149700305 LUAD C T Synonymous p.F20F c.60C>T 6 149691193 CM C T Synonymous p.S372S c.1116C>T 6 149700167 UCEC G A Missense p.A672T c.2014G>A 6 149730787 ALL G A Missense p.C608Y c.1823G>A 6 149719163 HNSC G A Missense p.R402Q c.1205G>A 6 149700256 STAD G A Synonymous p.T460T c.1380G>A 6 149700431 LUSC G C Missense p.E688D c.2064G>C 6 149730837 BLCA G C Missense p.G396A c.1187G>C 6 149700238 BLCA G C Synonymous p.L523L c.1569G>C 6 149700620 BLCA G T Missense p.G188C c.562G>T 6 149699613 UCEC G T Missense p.G320V c.959G>T 6 149700010 LUAD G T Missense p.G99V c.296G>T 6 149699347 BLCA G T Missense p.R575M c.1724G>T 6 149718860 UCEC G T Nonsense p.G526* c.1576G>T 6 149700627 LUAD G T Nonsense p.G94* c.280G>T 6 149699331 UCEC T C Missense p.I466T c.1397T>C 6 149700448 BRCA T C Synonymous p.N118N c.354T>C 6 149699405 BRCA - T Frameshift p.Q275Sfs*29 c.822dupT 6 149699872 RCCC - T Frameshift p.T104Nfs*5 c.308dupT 6 149699359 BRCA