regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACTATA others(1015): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0030 | 1 | 182 | 0.0055 | 1022 | c.505 others(1041): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ARHGAP39_chr8_144524179_144690846 | 144687049 | C | CCCCGTGA others(1015): Show |
upstream_gene_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 246 | 0.0041 | 1022 | c.-14 others(1033): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1204 | chr8 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1015): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0284 | 1 | 318 | 0.0031 | 1022 | c.285 others(1041): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1015): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 318 | 0.0031 | 1022 | c.285 others(1041): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1015): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0009 | a0001c0009t0011 | a0001c0009t0011g0209 | 1 | 318 | 0.0031 | 1022 | c.285 others(1041): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1015): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 318 | 0.0031 | 1022 | c.285 others(1041): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1015): Show |
intron_variant | MODIFIER | HG02135.hp2 HG02602.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077a0001c0001t0001g0103 | 2 | 318 | 0.0063 | 1022 | c.285 others(1041): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1015): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG01358.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058a0001c0001t0001g0066a0001c0001t0001g0071others(3): Show | 6 | 318 | 0.0189 | 1022 | c.285 others(1041): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1015): Show |
intron_variant | MODIFIER | HG00280.hp1 NA18906.hp1 NA19072.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0047a0001c0001t0001g0063a0001c0002t0002g0225 | 3 | 318 | 0.0094 | 1022 | c.285 others(1041): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1015): Show |
intron_variant | MODIFIER | HG01167.hp2 HG02896.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120a0001c0001t0001g0148 | 2 | 318 | 0.0063 | 1022 | c.285 others(1041): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1015): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 318 | 0.0031 | 1022 | c.285 others(1041): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1015): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0002 | a0002c0020 | a0002c0020t0001 | a0002c0020t0001g0251 | 1 | 318 | 0.0031 | 1022 | c.285 others(1041): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1015): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 | 1 | 318 | 0.0031 | 1022 | c.285 others(1041): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
B3GNT8_chr19_41420359_41432374 | 41432213 | T | TGGGGGGG others(1015): Show |
upstream_gene_variant | MODIFIER | NA19086.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0002 | 1 | 420 | 0.0024 | 1022 | c.-49 others(1033): Show |
B3GNT8 | ENSG00000177191.3 | transcript | ENST00000691102.1 | protein_coding | 4840 | chr19 | TogoVar | ||||||
C10orf67_chr10_23197696_23349797 | 23331540 | A | AAGGGAAA others(1015): Show |
intron_variant | MODIFIER | NA18944.hp1 NA18989.hp1 NA19009.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096a0001c0001t0001g0097a0001c0001t0001g0098 | 3 | 326 | 0.0092 | 1022 | c.327 others(1039): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20320494 | A | AATATAAT others(1015): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0142 | 1 | 236 | 0.0042 | 1022 | c.342 others(1043): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1015): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0002 | a0002c0084 | a0002c0084t0002 | a0002c0084t0002g0051 | 1 | 278 | 0.0036 | 1022 | c.328 others(1039): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | ||||||
DCDC2_chr6_24166755_24363059 | 24238175 | A | AGGGAGGG others(1015): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0209 | 1 | 216 | 0.0046 | 1022 | c.923 others(1041): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49203112 | C | CGGCCGCC others(1015): Show |
intron_variant | MODIFIER | NA20805.hp2 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0182a0001c0001t0022g0286 | 2 | 290 | 0.0069 | 1022 | c.162 others(1041): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706453 | C | CATACATA others(1015): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0003 | a0003c0013 | a0003c0013t0002 | a0003c0013t0002g0230 | 1 | 292 | 0.0034 | 1022 | c.228 others(1039): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706453 | C | CATACATA others(1015): Show |
upstream_gene_variant | MODIFIER | HG02280.hp1 | a0061 | a0061c0093 | a0061c0093t0046 | a0061c0093t0046g0068 | 1 | 369 | 0.0027 | 1022 | c.-49 others(1033): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4747 | chr4 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586449 | C | CGGAGGGG others(1015): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0099 | 1 | 308 | 0.0033 | 1022 | c.157 others(1039): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | chr17 | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 316177 | C | CACACAGA others(1015): Show |
intron_variant | MODIFIER | NA18949.hp2 NA18957.hp2 NA19058.hp2 |
a0003a0011 | a0003c0038a0011c0014 | a0003c0038t0001a0011c0014t0001 | a0003c0038t0001g0097a0011c0014t0001g0007 | 3 | 155 | 0.0194 | 1022 | c.487 others(1037): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 316177 | C | CACACAGA others(1015): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0018 | a0018c0030 | a0018c0030t0003 | a0018c0030t0003g0102 | 1 | 155 | 0.0065 | 1022 | c.487 others(1037): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | ||||||
HTRA3_chr4_8264754_8312098 | 8294663 | T | TCCACTTA others(1015): Show |
intron_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0112 | 1 | 388 | 0.0026 | 1022 | c.105 others(1039): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
LRP8_chr1_53237364_53333070 | 53283749 | C | CCACTTAC others(1015): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0215 | 1 | 296 | 0.0034 | 1022 | c.368 others(1039): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(1015): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0011 | a0011c0067 | a0011c0067t0003 | a0011c0067t0003g0008 | 1 | 292 | 0.0034 | 1022 | c.218 others(1037): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | ||||||
NCEH1_chr3_172625249_172716067 | 172691440 | T | TGACTTTC others(1015): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 332 | 0.0030 | 1022 | c.138 others(1041): Show |
NCEH1 | ENSG00000144959.11 | transcript | ENST00000475381.7 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
NCEH1_chr3_172625249_172716067 | 172691440 | T | TGACTTTC others(1015): Show |
intron_variant | MODIFIER | HG02698.hp1 HG02735.hp1 HG03927.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0025 | a0001c0001t0002g0034a0001c0001t0005g0011a0001c0001t0025g0035 | 3 | 332 | 0.0090 | 1022 | c.138 others(1041): Show |
NCEH1 | ENSG00000144959.11 | transcript | ENST00000475381.7 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
NCEH1_chr3_172625249_172716067 | 172691440 | T | TGACTTTC others(1015): Show |
intron_variant | MODIFIER | NA18964.hp2 NA18977.hp2 NA19007.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0007 | a0001c0001t0002g0010a0001c0001t0002g0037a0001c0001t0005g0036others(2): Show | 5 | 332 | 0.0151 | 1022 | c.138 others(1041): Show |
NCEH1 | ENSG00000144959.11 | transcript | ENST00000475381.7 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
NME8_chr7_37843597_37905397 | 37848238 | A | AGGAGAAG others(1015): Show |
upstream_gene_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0148 | 1 | 388 | 0.0026 | 1022 | c.-73 others(1031): Show |
NME8 | ENSG00000086288.12 | transcript | ENST00000199447.9 | protein_coding | 358 | chr7 | TogoVar | ||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(1015): Show |
downstream_gene_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 456 | 0.0022 | 1022 | c.*31 others(1033): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30388398 | G | GCTTATAA others(1015): Show |
intron_variant | MODIFIER | HG00099.hp1 HG02738.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0129a0001c0001t0002g0130 | 2 | 304 | 0.0066 | 1022 | c.66+ others(1037): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
SBNO2_chr19_1102638_1179268 | 1142161 | A | ACTCAATG others(1015): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02630.hp2 HG03139.hp2 |
a0001 | a0001c0006a0001c0020 | a0001c0006t0001a0001c0020t0001 | a0001c0006t0001g0118a0001c0006t0001g0157a0001c0020t0001g0028 | 3 | 203 | 0.0148 | 1022 | c.279 others(1039): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 4/31 | chr19 | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1142161 | A | ACTCAATG others(1015): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0029 | 1 | 203 | 0.0049 | 1022 | c.279 others(1039): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 4/31 | chr19 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1288275 | C | CCGTGTCT others(1015): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0054 | 1 | 290 | 0.0035 | 1022 | c.166 others(1039): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SCNN1D_chr1_1275436_1297025 | 1288457 | C | CCGTGTCT others(1015): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0013 | a0013c0043 | a0013c0043t0001 | a0013c0043t0001g0147 | 1 | 290 | 0.0035 | 1022 | c.166 others(1039): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SCNN1D_chr1_1275436_1297025 | 1290164 | T | TCCCGTGT others(1015): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0007 | a0007c0006 | a0007c0006t0001 | a0007c0006t0001g0070 | 1 | 290 | 0.0035 | 1022 | c.166 others(1037): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SLC39A11_chr17_72640949_73097688 | 73051754 | T | TGGCTGAG others(1015): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01891.hp1 HG01891.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(4): Show | a0001c0001t0001g0072a0001c0001t0003g0029a0001c0001t0008g0153others(5): Show | 8 | 180 | 0.0444 | 1022 | c.148 others(1041): Show |
SLC39A11 | ENSG00000133195.12 | transcript | ENST00000255559.8 | protein_coding | 3/9 | chr17 | TogoVar | ||||||
SYNE3_chr14_95402266_95521650 | 95419899 | G | GATGGTGG others(1015): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0002 | a0002c0002 | a0002c0002t0053 | a0002c0002t0053g0368 | 1 | 384 | 0.0026 | 1022 | c.272 others(1041): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 17/17 | chr14 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 980133 | C | CTGCCCGG others(1016): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0163 | 1 | 268 | 0.0037 | 1023 | c.604 others(1039): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AP2A2_chr11_920870_1017240 | 980166 | C | CTGCCCGG others(1016): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0004 | a0001c0004t0010 | a0001c0004t0010g0165 | 1 | 268 | 0.0037 | 1023 | c.604 others(1038): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AP2A2_chr11_920870_1017240 | 980199 | C | CTGCCCGG others(1016): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0157 | 1 | 268 | 0.0037 | 1023 | c.604 others(1038): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AP2A2_chr11_920870_1017240 | 980232 | C | GTGCCCGG others(1016): Show |
intron_variant | MODIFIER | HG02027.hp2 NA18990.hp2 NA19011.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0242a0001c0002t0002g0247a0001c0002t0002g0251others(1): Show | 4 | 268 | 0.0149 | 1023 | c.604 others(1038): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 5/21 | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 980232 | C | GTGCCCGG others(1016): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0168 | 1 | 268 | 0.0037 | 1023 | c.604 others(1038): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 5/21 | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 980232 | C | GTGCCCGG others(1016): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0252 | 1 | 268 | 0.0037 | 1023 | c.604 others(1038): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 5/21 | chr11 | TogoVar | ||||||
ARHGAP19_chr10_97217179_97297637 | 97251507 | A | AAGGAAGG others(1016): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0039 | 1 | 242 | 0.0041 | 1023 | c.927 others(1040): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | ||||||
ARHGEF10L_chr1_17534698_17702869 | 17689483 | C | CCCTCCCT others(1016): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0025 | 1 | 168 | 0.0060 | 1023 | c.318 others(1042): Show |
ARHGEF10L | ENSG00000074964.17 | transcript | ENST00000361221.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1016): Show |
intron_variant | MODIFIER | NA19001.hp2 NA19078.hp2 |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0001a0005c0008t0001 | a0001c0001t0001g0067a0005c0008t0001g0080 | 2 | 318 | 0.0063 | 1023 | c.285 others(1042): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1016): Show |
intron_variant | MODIFIER | HG02129.hp1 HG02976.hp2 NA19064.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081a0001c0001t0001g0090a0001c0001t0001g0144 | 3 | 318 | 0.0094 | 1023 | c.285 others(1042): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |