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raphaelleman
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gene varID | ||
NF1 NM_000267:c.1000del | ||
NF1 NM_000267:c.1007_1008delinsAA | ||
NF1 NM_000267:c.1007G>A | ||
NF1 NM_000267:c.1008G>A | ||
NF1 NM_000267:c.1016del | ||
NF1 NM_000267:c.1018_1031del | ||
NF1 NM_000267:c.1019_1020del | ||
NF1 NM_000267:c.1020dup | ||
NF1 NM_000267:c.1021_1022del | ||
NF1 NM_000267:c.1021_1031del | ||
NF1 NM_000267:c.1022dup | ||
NF1 NM_000267:c.1039C>T | ||
NF1 NM_000267:c.1049dup | ||
NF1 NM_000267:c.1061del | ||
NF1 NM_000267:c.1062+1G>A | ||
NF1 NM_000267:c.1062+3A>G | ||
NF1 NM_000267:c.1062G>A | ||
NF1 NM_000267:c.1063-13G>A | ||
NF1 NM_000267:c.1063-14T>A | ||
NF1 NM_000267:c.1063-1G>T | ||
NF1 NM_000267:c.1063-2A>G | ||
NF1 NM_000267:c.1063-2A>T | ||
NF1 NM_000267:c.1093_1094del | ||
NF1 NM_000267:c.1094C>G | ||
NF1 NM_000267:c.1105C>T | ||
NF1 NM_000267:c.1132_1133dup | ||
NF1 NM_000267:c.1133_1136del | ||
NF1 NM_000267:c.1139_1142delinsAAAA | ||
NF1 NM_000267:c.1153del | ||
NF1 NM_000267:c.1185_1185+2del | ||
NF1 NM_000267:c.1185+1G>A | ||
NF1 NM_000267:c.1185+1G>C | ||
NF1 NM_000267:c.1185+1G>T | ||
NF1 NM_000267:c.1185+2_1185+3delinsG | ||
NF1 NM_000267:c.1185G>A | ||
NF1 NM_000267:c.1186-1del | ||
NF1 NM_000267:c.1186-2A>T | ||
NF1 NM_000267:c.1198C>T | ||
NF1 NM_000267:c.1202del | ||
NF1 NM_000267:c.1212del | ||
NF1 NM_000267:c.1226_1227del | ||
NF1 NM_000267:c.1235A>G | ||
NF1 NM_000267:c.1241T>G | ||
NF1 NM_000267:c.1246C>T | ||
NF1 NM_000267:c.1260+1544A>G | ||
NF1 NM_000267:c.1260+1604A>G | ||
NF1 NM_000267:c.1260+1G>A | ||
NF1 NM_000267:c.1260+2dup | ||
NF1 NM_000267:c.1260+3A>T | ||
NF1 NM_000267:c.1260+4A>T | ||
NF1 NM_000267:c.1260+5G>A | ||
NF1 NM_000267:c.1260+5G>C | ||
NF1 NM_000267:c.1260G>A | ||
NF1 NM_000267:c.1261-1G>A | ||
NF1 NM_000267:c.1261-2A>C | ||
NF1 NM_000267:c.1261-2A>G | ||
NF1 NM_000267:c.1274G>A | ||
NF1 NM_000267:c.1275G>A | ||
NF1 NM_000267:c.1278G>A | ||
NF1 NM_000267:c.127del | ||
NF1 NM_000267:c.1299T>A | ||
NF1 NM_000267:c.1301del | ||
NF1 NM_000267:c.1302T>A | ||
NF1 NM_000267:c.1318C>T | ||
NF1 NM_000267:c.1329del | ||
NF1 NM_000267:c.132del | ||
NF1 NM_000267:c.134A>G | ||
NF1 NM_000267:c.1360del | ||
NF1 NM_000267:c.1378A>G | ||
NF1 NM_000267:c.1381C>T | ||
NF1 NM_000267:c.1392+1G>T | ||
NF1 NM_000267:c.1393-2A>G | ||
NF1 NM_000267:c.1393-591A>G | ||
NF1 NM_000267:c.1393-592A>G | ||
NF1 NM_000267:c.1393-7_1393-1delinsC | ||
NF1 NM_000267:c.1393-9T>A | ||
NF1 NM_000267:c.1399dup | ||
NF1 NM_000267:c.1411A>T | ||
NF1 NM_000267:c.1414del | ||
NF1 NM_000267:c.1460_1461delinsT | ||
NF1 NM_000267:c.1465_1466delinsC | ||
NF1 NM_000267:c.1465dup | ||
NF1 NM_000267:c.1466A>G | ||
NF1 NM_000267:c.1467_1468dup | ||
NF1 NM_000267:c.147C>G | ||
NF1 NM_000267:c.147del | ||
NF1 NM_000267:c.1527+1159C>T | ||
NF1 NM_000267:c.1527+1G>A | ||
NF1 NM_000267:c.1527+1G>C | ||
NF1 NM_000267:c.1527+1G>T | ||
NF1 NM_000267:c.1527+2dup | ||
NF1 NM_000267:c.1527+4_1527+7del | ||
NF1 NM_000267:c.1527+5_1527+6delinsA | ||
NF1 NM_000267:c.1527+5G>A | ||
NF1 NM_000267:c.1528-14_1546del | ||
NF1 NM_000267:c.1541_1542del | ||
NF1 NM_000267:c.1541del | ||
NF1 NM_000267:c.1570G>T | ||
NF1 NM_000267:c.1591_1602delinsA | ||
NF1 NM_000267:c.1592_1595dup | ||
NF1 NM_000267:c.1607C>A | ||
NF1 NM_000267:c.1639G>T | ||
NF1 NM_000267:c.1641+1G>A | ||
NF1 NM_000267:c.1641+2T>A | ||
NF1 NM_000267:c.1642-10A>G | ||
NF1 NM_000267:c.1642-1G>C | ||
NF1 NM_000267:c.1642-2A>G | ||
NF1 NM_000267:c.1642-449A>G | ||
NF1 NM_000267:c.1642-5T>G | ||
NF1 NM_000267:c.1649T>C | ||
NF1 NM_000267:c.1651del | ||
NF1 NM_000267:c.1655T>G | ||
NF1 NM_000267:c.1658A>G | ||
NF1 NM_000267:c.1663_1666del | ||
NF1 NM_000267:c.1665dup | ||
NF1 NM_000267:c.1676T>A | ||
NF1 NM_000267:c.1679del | ||
NF1 NM_000267:c.1708del | ||
NF1 NM_000267:c.1720A>C | ||
NF1 NM_000267:c.1721+1G>A | ||
NF1 NM_000267:c.1721+1G>C | ||
NF1 NM_000267:c.1721+1G>T | ||
NF1 NM_000267:c.1721+2T>C | ||
NF1 NM_000267:c.1721+3A>G | ||
NF1 NM_000267:c.1721+537T>G | ||
NF1 NM_000267:c.1721+542A>G | ||
NF1 NM_000267:c.1721G>A | ||
NF1 NM_000267:c.1722-2A>G | ||
NF1 NM_000267:c.1722-3C>G | ||
NF1 NM_000267:c.1728_1729del | ||
NF1 NM_000267:c.174_177del | ||
NF1 NM_000267:c.1743delinsCA | ||
NF1 NM_000267:c.1748A>G | ||
NF1 NM_000267:c.1755_1756del | ||
NF1 NM_000267:c.1756_1759del | ||
NF1 NM_000267:c.1756del | ||
NF1 NM_000267:c.1758_1759del | ||
NF1 NM_000267:c.1758del | ||
NF1 NM_000267:c.1772_1781del | ||
NF1 NM_000267:c.1783_1784del | ||
NF1 NM_000267:c.1783G>T | ||
NF1 NM_000267:c.179_181del | ||
NF1 NM_000267:c.1797G>A | ||
NF1 NM_000267:c.1809del | ||
NF1 NM_000267:c.1811T>A | ||
NF1 NM_000267:c.1837_1841del | ||
NF1 NM_000267:c.1837_1845+17del | ||
NF1 NM_000267:c.1838_1841del | ||
NF1 NM_000267:c.1842_1845+1del | ||
NF1 NM_000267:c.1845+1G>T | ||
NF1 NM_000267:c.1845+2T>A | ||
NF1 NM_000267:c.1845+2T>C | ||
NF1 NM_000267:c.1845G>T | ||
NF1 NM_000267:c.1846C>T | ||
NF1 NM_000267:c.1849del | ||
NF1 NM_000267:c.1854_1857del | ||
NF1 NM_000267:c.1882dup | ||
NF1 NM_000267:c.1885G>A | ||
NF1 NM_000267:c.1888del | ||
NF1 NM_000267:c.1889G>A | ||
NF1 NM_000267:c.1896T>A | ||
NF1 NM_000267:c.1914_1917dup | ||
NF1 NM_000267:c.1933A>G | ||
NF1 NM_000267:c.1945G>T | ||
NF1 NM_000267:c.1A>G | ||
NF1 NM_000267:c.2002-19_2005del | ||
NF1 NM_000267:c.2013_2014delinsC | ||
NF1 NM_000267:c.2027del | ||
NF1 NM_000267:c.2031_2093del | ||
NF1 NM_000267:c.2033_2034delinsC | ||
NF1 NM_000267:c.2033del | ||
NF1 NM_000267:c.2033dup | ||
NF1 NM_000267:c.2038del | ||
NF1 NM_000267:c.204+1G>A | ||
NF1 NM_000267:c.204+1G>T | ||
NF1 NM_000267:c.2041C>T | ||
NF1 NM_000267:c.2050C>T | ||
NF1 NM_000267:c.205-1G>C | ||
NF1 NM_000267:c.205-2A>G | ||
NF1 NM_000267:c.2072_2076dup | ||
NF1 NM_000267:c.2072T>G | ||
NF1 NM_000267:c.2077_2078del | ||
NF1 NM_000267:c.2084T>G | ||
NF1 NM_000267:c.2087G>A | ||
NF1 NM_000267:c.2131del | ||
NF1 NM_000267:c.2140_2150del | ||
NF1 NM_000267:c.2172dup | ||
NF1 NM_000267:c.2173G>T | ||
NF1 NM_000267:c.2205_2206dup | ||
NF1 NM_000267:c.2246C>G | ||
NF1 NM_000267:c.2251+1G>A | ||
NF1 NM_000267:c.2251+2T>C | ||
NF1 NM_000267:c.2251+2T>G | ||
NF1 NM_000267:c.2251G>A | ||
NF1 NM_000267:c.2252-2A>C | ||
NF1 NM_000267:c.2252-30_2252-6delinsT | ||
NF1 NM_000267:c.2252-3T>G | ||
NF1 NM_000267:c.2256_2259dup | ||
NF1 NM_000267:c.2266C>T | ||
NF1 NM_000267:c.2269A>T | ||
NF1 NM_000267:c.2271_2272del | ||
NF1 NM_000267:c.2272del | ||
NF1 NM_000267:c.2288T>C | ||
NF1 NM_000267:c.2303_2304del | ||
NF1 NM_000267:c.2304_2308del | ||
NF1 NM_000267:c.2310_2314del | ||
NF1 NM_000267:c.232_233del |
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##fileformat=VCFv4.0 | ||
##fileDate=20090805 | ||
##source=myImputationProgramV3.1 | ||
##reference=1000GenomesPilot-NCBI36 | ||
##phasing=partial | ||
##INFO=<ID=NS,Number=1,Type=Integer,Description="Number of Samples With Data"> | ||
##INFO=<ID=DP,Number=1,Type=Integer,Description="Total Depth"> | ||
##INFO=<ID=AF,Number=.,Type=Float,Description="Allele Frequency"> | ||
##INFO=<ID=AA,Number=1,Type=String,Description="Ancestral Allele"> | ||
##INFO=<ID=DB,Number=0,Type=Flag,Description="dbSNP membership, build 129"> | ||
##INFO=<ID=H2,Number=0,Type=Flag,Description="HapMap2 membership"> | ||
##FILTER=<ID=q10,Description="Quality below 10"> | ||
##FILTER=<ID=s50,Description="Less than 50% of samples have data"> | ||
##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype"> | ||
##FORMAT=<ID=GQ,Number=1,Type=Integer,Description="Genotype Quality"> | ||
##FORMAT=<ID=DP,Number=1,Type=Integer,Description="Read Depth"> | ||
##FORMAT=<ID=HQ,Number=2,Type=Integer,Description="Haplotype Quality"> | ||
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT NA00001 NA00002 NA00003 | ||
20 14370 rs6054257 G A 29 PASS NS=3;DP=14;AF=0.5;DB;H2 GT:GQ:DP:HQ 0|0:48:1:51,51 1|0:48:8:51,51 1/1:43:5:.,. | ||
20 17330 . T A 3 q10 NS=3;DP=11;AF=0.017 GT:GQ:DP:HQ 0|0:49:3:58,50 0|1:3:5:65,3 0/0:41:3 | ||
20 1110696 rs6040355 A G,T 67 PASS NS=2;DP=10;AF=0.333,0.667;AA=T;DB GT:GQ:DP:HQ 1|2:21:6:23,27 2|1:2:0:18,2 2/2:35:4 | ||
20 1230237 . T . 47 PASS NS=3;DP=13;AA=T GT:GQ:DP:HQ 0|0:54:7:56,60 0|0:48:4:51,51 0/0:61:2 | ||
20 1234567 microsat1 GTCT G,GTACT 50 PASS NS=3;DP=9;AA=G GT:GQ:DP 0/1:35:4 0/2:17:2 1/1:40:3 |