view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HECTD4_chr12_112155195_112387431 | 112332141 | T | TACAAGAA others(24): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0031 | a0001c0031t0008 | a0001c0031t0008g0251 | 1 | 268 | 0.0037 | 31 | c.178 others(50): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 1/75 | chr12 | TogoVar | |||||||
HECW2_chr2_196189072_196598554 | 196278131 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0111 | 1 | 71 | 0.0141 | 31 | c.313 others(48): Show |
HECW2 | ENSG00000138411.13 | transcript | ENST00000644978.2 | protein_coding | 15/28 | chr2 | TogoVar | |||||||
HELB_chr12_66297493_66343199 | 66327066 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | HG02809.hp1 NA18968.hp2 |
a0004a0016 | a0004c0004a0016c0021 | a0004c0004t0001a0016c0021t0001 | a0004c0004t0001g0190 a0016c0021t0001g0224 |
2 | 56 | 0.0357 | 31 | c.267 others(50): Show |
HELB | ENSG00000127311.10 | transcript | ENST00000247815.9 | protein_coding | 11/12 | chr12 | TogoVar | |||||||
HERC4_chr10_67916905_68080283 | 68059905 | T | TAATATTA others(24): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 | 1 | 113 | 0.0088 | 31 | c.226 others(50): Show |
HERC4 | ENSG00000148634.16 | transcript | ENST00000373700.9 | protein_coding | 3/24 | chr10 | TogoVar | |||||||
HERC6_chr4_88373852_88448097 | 88380219 | A | AATATATA others(24): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0095 | 1 | 51 | 0.0196 | 31 | c.199 others(48): Show |
HERC6 | ENSG00000138642.16 | transcript | ENST00000264346.12 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HGF_chr7_81694010_81775047 | 81697198 | T | TATATATA others(24): Show |
downstream_gene_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0028 | 1 | 22 | 0.0455 | 31 | c.*53 others(42): Show |
HGF | ENSG00000019991.18 | transcript | ENST00000222390.11 | protein_coding | 1811 | chr7 | TogoVar | |||||||
HHAT_chr1_210323902_210681290 | 210526367 | G | GTTTTGTT others(24): Show |
intron_variant | MODIFIER | NA18952.hp1 NA19012.hp2 NA19063.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0001 | a0001c0001t0002g0153 a0001c0001t0002g0158 a0002c0003t0001g0249 |
3 | 49 | 0.0612 | 31 | c.104 others(52): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HHIPL1_chr14_99640129_99685569 | 99673657 | G | GGGTACAC others(24): Show |
intron_variant | MODIFIER | HG02723.hp2 HG03139.hp1 |
a0002 | a0002c0006a0002c0016 | a0002c0006t0002a0002c0016t0039 | a0002c0006t0002g0150 a0002c0016t0039g0114 |
2 | 359 | 0.0056 | 31 | c.181 others(50): Show |
HHIPL1 | ENSG00000182218.10 | transcript | ENST00000330710.10 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
HHIPL1_chr14_99640129_99685569 | 99673657 | G | GGGTGCAC others(24): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0002 | a0002c0001 | a0002c0001t0012 | a0002c0001t0012g0293 | 1 | 358 | 0.0028 | 31 | c.181 others(50): Show |
HHIPL1 | ENSG00000182218.10 | transcript | ENST00000330710.10 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
HHIPL1_chr14_99640129_99685569 | 99673673 | G | GTGGCACA others(24): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(334): Show |
a0001a0002a0004others(5): Show | a0001c0002a0001c0003a0001c0007others(12): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0004others(46): Show | a0001c0002t0002g0013 a0001c0002t0002g0014 a0001c0002t0002g0015 others(302): Show |
337 | 353 | 0.9547 | 31 | c.181 others(50): Show |
HHIPL1 | ENSG00000182218.10 | transcript | ENST00000330710.10 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
HIBCH_chr2_190198920_190324826 | 190314413 | G | GTATATAT others(24): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 365 | 0.0027 | 31 | c.36- others(46): Show |
HIBCH | ENSG00000198130.16 | transcript | ENST00000359678.10 | protein_coding | 1/13 | chr2 | TogoVar | |||||||
HIKESHI_chr11_86297240_86350943 | 86307298 | A | ATATACAT others(24): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00423.hp2 others(124): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(108): Show |
127 | 369 | 0.3442 | 31 | c.268 others(46): Show |
HIKESHI | ENSG00000149196.17 | transcript | ENST00000278483.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HIKESHI_chr11_86297240_86350943 | 86307958 | T | TATAAAAT others(24): Show |
intron_variant | MODIFIER | NA18947.hp1 NA19079.hp2 NA19087.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 a0001c0001t0001g0091 a0001c0001t0001g0092 |
3 | 77 | 0.0390 | 31 | c.268 others(48): Show |
HIKESHI | ENSG00000149196.17 | transcript | ENST00000278483.8 | protein_coding | 2/4 | chr11 | TogoVar | |||||||
HIKESHI_chr11_86297240_86350943 | 86318303 | C | CAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 68 | 0.0147 | 31 | c.268 others(50): Show |
HIKESHI | ENSG00000149196.17 | transcript | ENST00000278483.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HINFP_chr11_119116580_119141059 | 119129490 | C | CTTTTCTT others(24): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0180 | 1 | 283 | 0.0035 | 31 | c.182 others(48): Show |
HINFP | ENSG00000172273.13 | transcript | ENST00000350777.7 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HINFP_chr11_119116580_119141059 | 119129490 | C | CTTTTTTT others(24): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG01256.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0045 others(4): Show |
12 | 294 | 0.0408 | 31 | c.182 others(48): Show |
HINFP | ENSG00000172273.13 | transcript | ENST00000350777.7 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HIP1R_chr12_122830457_122867961 | 122850568 | T | TGGGGGGG others(24): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0043 | 1 | 122 | 0.0082 | 31 | c.439 others(46): Show |
HIP1R | ENSG00000130787.14 | transcript | ENST00000253083.9 | protein_coding | 5/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
HIP1R_chr12_122830457_122867961 | 122853216 | T | TTGTCAGG others(24): Show |
intron_variant | MODIFIER | HG00280.hp1 HG02602.hp2 HG02976.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0020 a0002c0002t0001g0037 a0002c0002t0001g0038 others(3): Show |
7 | 280 | 0.0250 | 31 | c.578 others(46): Show |
HIP1R | ENSG00000130787.14 | transcript | ENST00000253083.9 | protein_coding | 7/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
HIRA_chr22_19325698_19436733 | 19390601 | C | CAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 42 | 0.0238 | 31 | c.936 others(48): Show |
HIRA | ENSG00000100084.14 | transcript | ENST00000263208.5 | protein_coding | 9/24 | chr22 | TogoVar | |||||||
HIVEP1_chr6_12007312_12169999 | 12167656 | T | TTATATAT others(24): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 HG00673.hp1 HG01168.hp1 others(24): Show |
a0004a0008 | a0004c0004a0008c0018 | a0004c0004t0001a0004c0004t0002a0008c0018t0001 | a0004c0004t0001g0005 a0004c0004t0001g0006 a0004c0004t0001g0008 others(24): Show |
27 | 332 | 0.0813 | 31 | c.*31 others(42): Show |
HIVEP1 | ENSG00000095951.17 | transcript | ENST00000379388.7 | protein_coding | 2658 | chr6 | TogoVar | |||||||
HIVEP2_chr6_142746469_142950176 | 142862705 | C | CTATATAT others(24): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0140 | 1 | 286 | 0.0035 | 31 | c.-64 others(52): Show |
HIVEP2 | ENSG00000010818.11 | transcript | ENST00000367603.8 | protein_coding | 1/9 | chr6 | TogoVar | |||||||
HJURP_chr2_233831702_233859535 | 233855757 | G | GAAAAAAA others(24): Show |
upstream_gene_variant | MODIFIER | HG00609.hp2 | a0016 | a0016c0033 | a0016c0033t0001 | a0016c0033t0001g0079 | 1 | 448 | 0.0022 | 31 | c.-12 others(42): Show |
HJURP | ENSG00000123485.12 | transcript | ENST00000411486.7 | protein_coding | 1223 | chr2 | TogoVar | |||||||
HLA-G_chr6_29822825_29836021 | 29831449 | T | TTTTTTTT others(24): Show |
downstream_gene_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 25 | 0.0400 | 31 | c.*71 others(40): Show |
HLA-G | ENSG00000204632.13 | transcript | ENST00000360323.11 | protein_coding | 429 | chr6 | TogoVar | |||||||
HMCN2_chr9_130260760_130439123 | 130312539 | C | CCCTCCCT others(24): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0003 | a0003c0034 | a0003c0034t0001 | a0003c0034t0001g0011 | 1 | 117 | 0.0085 | 31 | c.235 others(50): Show |
HMCN2 | ENSG00000148357.18 | transcript | ENST00000683500.2 | protein_coding | 15/97 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
HMGCLL1_chr6_55429373_55584192 | 55477284 | T | TATATATA others(24): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0027 | 1 | 327 | 0.0031 | 31 | c.795 others(50): Show |
HMGCLL1 | ENSG00000146151.14 | transcript | ENST00000274901.9 | protein_coding | 7/8 | chr6 | TogoVar | |||||||
HMHB1_chr5_143807161_143825716 | 143820318 | T | TAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG01496.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0014 a0001c0002t0001g0132 |
7 | 26 | 0.2692 | 31 | c.38- others(44): Show |
HMHB1 | ENSG00000158497.6 | transcript | ENST00000289448.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
HMMR_chr5_163455632_163496941 | 163494876 | C | CTTTTTTT others(24): Show |
downstream_gene_variant | MODIFIER | HG03516.hp1 HG04184.hp1 |
a0003a0013 | a0003c0003a0013c0013 | a0003c0003t0001a0013c0013t0007 | a0003c0003t0001g0180 a0013c0013t0007g0043 |
2 | 307 | 0.0065 | 31 | c.*37 others(42): Show |
HMMR | ENSG00000072571.20 | transcript | ENST00000393915.9 | protein_coding | 2936 | chr5 | TogoVar | |||||||
HMOX1_chr22_35376096_35399207 | 35392256 | A | AAGAATTT others(24): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0006 | a0006c0007 | a0006c0007t0011 | a0006c0007t0011g0114 | 1 | 382 | 0.0026 | 31 | c.737 others(48): Show |
HMOX1 | ENSG00000100292.18 | transcript | ENST00000216117.9 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
HNF4G_chr8_75534869_75571834 | 75566069 | G | GCTTATTT others(24): Show |
3_prime_UTR_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0003 | 1 | 392 | 0.0026 | 31 | c.*19 others(42): Show |
HNF4G | ENSG00000164749.13 | transcript | ENST00000396423.4 | protein_coding | 10/10 | 1974 | chr8 | TogoVar | ||||||
HNRNPAB_chr5_178199533_178216163 | 178203504 | T | TAAAAAAA others(24): Show |
upstream_gene_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0047 | 1 | 51 | 0.0196 | 31 | c.-12 others(42): Show |
HNRNPAB | ENSG00000197451.12 | transcript | ENST00000358344.8 | protein_coding | 1028 | chr5 | TogoVar | |||||||
HNRNPLL_chr2_38556969_38607928 | 38588546 | C | CAAAAAAA others(24): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0252 | 1 | 146 | 0.0068 | 31 | c.309 others(48): Show |
HNRNPLL | ENSG00000143889.16 | transcript | ENST00000449105.8 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
HOMER1_chr5_79367636_79519134 | 79379351 | A | ATTATATA others(24): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0169 | 1 | 288 | 0.0035 | 31 | c.877 others(48): Show |
HOMER1 | ENSG00000152413.15 | transcript | ENST00000334082.11 | protein_coding | 8/8 | chr5 | TogoVar | |||||||
HOMER2_chr15_82843983_82957720 | 82868541 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02615.hp1 HG03540.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0284 a0002c0002t0001g0287 a0002c0002t0001g0288 |
3 | 283 | 0.0106 | 31 | c.295 others(48): Show |
HOMER2 | ENSG00000103942.13 | transcript | ENST00000450735.7 | protein_coding | 3/8 | chr15 | TogoVar | |||||||
HOMER2_chr15_82843983_82957720 | 82868541 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0294 | 1 | 281 | 0.0036 | 31 | c.295 others(48): Show |
HOMER2 | ENSG00000103942.13 | transcript | ENST00000450735.7 | protein_coding | 3/8 | chr15 | TogoVar | |||||||
HOMER2_chr15_82843983_82957720 | 82868541 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 281 | 0.0036 | 31 | c.295 others(48): Show |
HOMER2 | ENSG00000103942.13 | transcript | ENST00000450735.7 | protein_coding | 3/8 | chr15 | TogoVar | |||||||
HOMER2_chr15_82843983_82957720 | 82868542 | T | TATATATA others(24): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0267 | 1 | 291 | 0.0034 | 31 | c.295 others(48): Show |
HOMER2 | ENSG00000103942.13 | transcript | ENST00000450735.7 | protein_coding | 3/8 | chr15 | TogoVar | |||||||
HOMEZ_chr14_23267422_23291132 | 23280774 | T | TTTTTTAT others(24): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0124 | 1 | 392 | 0.0026 | 31 | c.41- others(46): Show |
HOMEZ | ENSG00000290292.10 | transcript | ENST00000357460.7 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
HORMAD2_chr22_30075464_30182075 | 30150486 | C | CCTCTTCC others(24): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0302 | 1 | 348 | 0.0029 | 31 | c.820 others(50): Show |
HORMAD2 | ENSG00000176635.18 | transcript | ENST00000336726.11 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
HORMAD2_chr22_30075464_30182075 | 30175318 | T | TATAGAAT others(24): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02083.hp2 NA19059.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 a0001c0001t0001g0181 a0001c0001t0001g0199 |
3 | 316 | 0.0095 | 31 | c.820 others(46): Show |
HORMAD2 | ENSG00000176635.18 | transcript | ENST00000336726.11 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
HOXC4_chr12_54048835_54061030 | 54058950 | G | GTGTGTGT others(24): Show |
downstream_gene_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0001 | 1 | 93 | 0.0108 | 31 | c.*37 others(42): Show |
HOXC4 | ENSG00000198353.8 | transcript | ENST00000430889.3 | protein_coding | 2921 | chr12 | TogoVar | |||||||
HOXC8_chr12_54003985_54017769 | 54014000 | T | TTCTCTTC others(24): Show |
downstream_gene_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0001 | 1 | 146 | 0.0068 | 31 | c.*26 others(42): Show |
HOXC8 | ENSG00000037965.6 | transcript | ENST00000040584.6 | protein_coding | 1232 | chr12 | TogoVar | |||||||
HOXC8_chr12_54003985_54017769 | 54014000 | T | TTCTCTTC others(24): Show |
downstream_gene_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0001 | 1 | 146 | 0.0068 | 31 | c.*26 others(42): Show |
HOXC8 | ENSG00000037965.6 | transcript | ENST00000040584.6 | protein_coding | 1232 | chr12 | TogoVar | |||||||
HOXC8_chr12_54003985_54017769 | 54014000 | T | TTCTCTTC others(24): Show |
downstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 146 | 0.0068 | 31 | c.*26 others(42): Show |
HOXC8 | ENSG00000037965.6 | transcript | ENST00000040584.6 | protein_coding | 1232 | chr12 | TogoVar | |||||||
HP1BP3_chr1_20735266_20792307 | 20752706 | G | GTACATAG others(24): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0313 | 1 | 376 | 0.0027 | 31 | c.982 others(48): Show |
HP1BP3 | ENSG00000127483.19 | transcript | ENST00000438032.6 | protein_coding | 9/12 | chr1 | TogoVar | |||||||
HPCAL1_chr2_10297904_10432604 | 10335952 | C | CTGTAAAT others(24): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00639.hp1 HG01070.hp2 others(56): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0004 a0001c0001t0001g0067 a0001c0001t0001g0069 others(56): Show |
59 | 311 | 0.1897 | 31 | c.-11 others(52): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10336014 | G | GTGTAAAT others(24): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02559.hp1 HG03209.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0038 a0001c0001t0002g0298 a0001c0001t0003g0299 others(1): Show |
4 | 253 | 0.0158 | 31 | c.-11 others(52): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10336157 | T | TCGTATCC others(24): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02602.hp2 HG02698.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0109 a0001c0001t0001g0115 a0001c0001t0001g0116 others(2): Show |
5 | 308 | 0.0162 | 31 | c.-11 others(52): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HPD_chr12_121834527_121863859 | 121835008 | T | TTTCTTTC others(24): Show |
downstream_gene_variant | MODIFIER | HG03831.hp1 HG03831.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0283 a0001c0001t0001g0284 |
2 | 404 | 0.0050 | 31 | c.*47 others(42): Show |
HPD | ENSG00000158104.11 | transcript | ENST00000289004.8 | protein_coding | 4518 | chr12 | TogoVar | |||||||
HPSE2_chr10_98452077_99240852 | 99132146 | G | GAAGAAGA others(24): Show |
intron_variant | MODIFIER | HG06807.hp1 NA19030.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0016a0002c0002t0010 | a0001c0001t0016g0025 a0002c0002t0010g0021 |
2 | 116 | 0.0172 | 31 | c.610 others(50): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 3/11 | chr10 | TogoVar | |||||||
HPSE2_chr10_98452077_99240852 | 99132191 | A | AAGAAAGA others(24): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0096 | 1 | 85 | 0.0118 | 31 | c.610 others(50): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 3/11 | chr10 | TogoVar |