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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HBS1L_chr6_134955378_135059822 | 135040344 | C | CCTTTTTT others(8): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0256 | 1 | 348 | 0.0029 | 15 | c.236 others(30): Show |
HBS1L | ENSG00000112339.15 | transcript | ENST00000367837.10 | protein_coding | 3/17 | chr6 | TogoVar | |||||||
HCK_chr20_32047242_32106856 | 32066331 | T | TTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02165.hp2 NA18942.hp1 NA18957.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 a0001c0001t0001g0052 a0001c0001t0001g0079 others(5): Show |
8 | 290 | 0.0276 | 15 | c.63- others(30): Show |
HCK | ENSG00000101336.18 | transcript | ENST00000375852.5 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
HCK_chr20_32047242_32106856 | 32094700 | A | AAAGAAAG others(8): Show |
intron_variant | MODIFIER | HG03710.hp1 NA18989.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 a0001c0001t0001g0211 |
2 | 290 | 0.0069 | 15 | c.124 others(32): Show |
HCK | ENSG00000101336.18 | transcript | ENST00000375852.5 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
HCK_chr20_32047242_32106856 | 32094705 | A | AAAAGAAG others(8): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 290 | 0.0035 | 15 | c.124 others(32): Show |
HCK | ENSG00000101336.18 | transcript | ENST00000375852.5 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
HCK_chr20_32047242_32106856 | 32094705 | A | AAAGAAAG others(8): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0270 | 1 | 290 | 0.0035 | 15 | c.124 others(32): Show |
HCK | ENSG00000101336.18 | transcript | ENST00000375852.5 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
HCLS1_chr3_121626399_121665903 | 121635237 | T | TCTCTCTC others(8): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0214 | 1 | 390 | 0.0026 | 15 | c.691 others(30): Show |
HCLS1 | ENSG00000180353.11 | transcript | ENST00000314583.8 | protein_coding | 9/13 | chr3 | TogoVar | |||||||
HCN1_chr5_45249948_45701380 | 45293479 | A | AAAAACAA others(8): Show |
intron_variant | MODIFIER | HG02056.hp1 NA18992.hp2 NA19003.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0167 a0001c0001t0013g0078 a0001c0001t0013g0079 |
3 | 226 | 0.0133 | 15 | c.161 others(36): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 6/7 | chr5 | TogoVar | |||||||
HCN1_chr5_45249948_45701380 | 45534404 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02055.hp2 HG03139.hp1 |
a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0224 a0002c0002t0008g0225 |
2 | 226 | 0.0089 | 15 | c.850 others(34): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 2/7 | chr5 | TogoVar | |||||||
HCN1_chr5_45249948_45701380 | 45593644 | C | CATTATTA others(8): Show |
intron_variant | MODIFIER | HG02155.hp2 NA18939.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0018 | a0001c0001t0001g0065 a0001c0001t0018g0018 |
2 | 226 | 0.0089 | 15 | c.849 others(34): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 2/7 | chr5 | TogoVar | |||||||
HCN2_chr19_584881_622159 | 621014 | C | CGCCGGGG others(8): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0023 | a0001c0023t0001 | a0001c0023t0001g0122 | 1 | 408 | 0.0025 | 15 | c.*45 others(26): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 3856 | chr19 | TogoVar | |||||||
HCN4_chr15_73314859_73373958 | 73373717 | G | GAGAAGAA others(8): Show |
upstream_gene_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025 | 1 | 344 | 0.0029 | 15 | c.-54 others(26): Show |
HCN4 | ENSG00000138622.4 | transcript | ENST00000261917.4 | protein_coding | 4760 | chr15 | TogoVar | |||||||
HCRTR2_chr6_55169515_55287617 | 55192439 | A | ACACACAC others(8): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 368 | 0.0027 | 15 | c.223 others(34): Show |
HCRTR2 | ENSG00000137252.10 | transcript | ENST00000370862.4 | protein_coding | 1/6 | chr6 | TogoVar | |||||||
HCRTR2_chr6_55169515_55287617 | 55241861 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00621.hp1 HG00673.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0040 a0001c0001t0001g0050 others(16): Show |
19 | 368 | 0.0516 | 15 | c.224 others(32): Show |
HCRTR2 | ENSG00000137252.10 | transcript | ENST00000370862.4 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
HCRTR2_chr6_55169515_55287617 | 55245469 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0352 | 1 | 368 | 0.0027 | 15 | c.224 others(32): Show |
HCRTR2 | ENSG00000137252.10 | transcript | ENST00000370862.4 | protein_coding | 1/6 | chr6 | TogoVar | |||||||
HDAC11_chr3_13475306_13511416 | 13486571 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0025 | 2 | 420 | 0.0048 | 15 | c.252 others(32): Show |
HDAC11 | ENSG00000163517.15 | transcript | ENST00000295757.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
HDAC11_chr3_13475306_13511416 | 13510462 | C | CTTTTCTT others(8): Show |
downstream_gene_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 1 | 420 | 0.0024 | 15 | c.*57 others(26): Show |
HDAC11 | ENSG00000163517.15 | transcript | ENST00000295757.8 | protein_coding | 4047 | chr3 | TogoVar | |||||||
HDAC2_chr6_113928028_113976148 | 113930717 | C | CTCTCTCT others(8): Show |
downstream_gene_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0083 | 1 | 402 | 0.0025 | 15 | c.*10 others(28): Show |
HDAC2 | ENSG00000196591.12 | transcript | ENST00000519065.6 | protein_coding | 2310 | chr6 | TogoVar | |||||||
HDAC2_chr6_113928028_113976148 | 113930737 | T | TCTCTCTC others(8): Show |
downstream_gene_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0098 | 1 | 402 | 0.0025 | 15 | c.*10 others(28): Show |
HDAC2 | ENSG00000196591.12 | transcript | ENST00000519065.6 | protein_coding | 2290 | chr6 | TogoVar | |||||||
HDAC8_chrX_72324516_72577843 | 72396838 | T | TAACAACA others(8): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0190 | 1 | 208 | 0.0048 | 15 | c.100 others(36): Show |
HDAC8 | ENSG00000147099.21 | transcript | ENST00000373573.9 | protein_coding | 9/10 | chrX | TogoVar | |||||||
HDAC8_chrX_72324516_72577843 | 72416408 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 208 | 0.0048 | 15 | c.100 others(36): Show |
HDAC8 | ENSG00000147099.21 | transcript | ENST00000373573.9 | protein_coding | 9/10 | chrX | TogoVar | |||||||
HDAC8_chrX_72324516_72577843 | 72453521 | A | AAAGAAAG others(8): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 | 1 | 208 | 0.0048 | 15 | c.100 others(34): Show |
HDAC8 | ENSG00000147099.21 | transcript | ENST00000373573.9 | protein_coding | 9/10 | chrX | TogoVar | |||||||
HDAC9_chr7_18490749_19007416 | 18507170 | A | ATATTATT others(8): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01081.hp1 HG02109.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0020a0001c0001t0021a0001c0001t0027others(8): Show | a0001c0001t0020g0137 a0001c0001t0021g0013 a0001c0001t0027g0057 others(8): Show |
11 | 156 | 0.0705 | 15 | c.22+ others(32): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HDAC9_chr7_18490749_19007416 | 18795257 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02896.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0060 a0001c0001t0006g0048 |
2 | 156 | 0.0128 | 15 | c.232 others(34): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 17/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HDAC9_chr7_18490749_19007416 | 18824044 | G | GGAAGAGG others(8): Show |
intron_variant | MODIFIER | HG02027.hp1 HG02970.hp1 HG03490.hp1 others(6): Show |
a0001 | a0001c0002a0001c0004a0001c0007 | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(4): Show | a0001c0002t0001g0046 a0001c0002t0002g0095 a0001c0002t0002g0123 others(6): Show |
9 | 156 | 0.0577 | 15 | c.232 others(34): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 17/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HDAC9_chr7_18490749_19007416 | 18824044 | G | GGAAGAGG others(8): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0136 | 1 | 156 | 0.0064 | 15 | c.232 others(34): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 17/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HDAC9_chr7_18490749_19007416 | 18824084 | G | GAACAAGA others(8): Show |
intron_variant | MODIFIER | HG02630.hp2 HG03098.hp2 NA19240.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0006a0001c0003t0008a0001c0003t0053 | a0001c0001t0006g0039 a0001c0003t0008g0009 a0001c0003t0053g0010 |
3 | 156 | 0.0192 | 15 | c.232 others(34): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 17/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HDAC9_chr7_18490749_19007416 | 18824084 | G | GAAGAAGA others(8): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0011 | a0001c0011t0008 | a0001c0011t0008g0032 | 1 | 156 | 0.0064 | 15 | c.232 others(34): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 17/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HDAC9_chr7_18490749_19007416 | 18916022 | G | GAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0006 | 1 | 156 | 0.0064 | 15 | c.280 others(36): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 22/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HDAC9_chr7_18490749_19007416 | 18916022 | G | GGAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0002 | a0001c0002t0041 | a0001c0002t0041g0056 | 1 | 156 | 0.0064 | 15 | c.280 others(36): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 22/25 | chr7 | TogoVar | |||||||
HDGFL3_chr15_83122753_83212823 | 83169414 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0040 | 1 | 246 | 0.0041 | 15 | c.85- others(30): Show |
HDGFL3 | ENSG00000166503.9 | transcript | ENST00000299633.7 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
HDGFL3_chr15_83122753_83212823 | 83198054 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02257.hp2 HG02280.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0012a0001c0001t0014others(1): Show | a0001c0001t0004g0002 a0001c0001t0004g0103 a0001c0001t0004g0104 others(4): Show |
8 | 246 | 0.0325 | 15 | c.84+ others(30): Show |
HDGFL3 | ENSG00000166503.9 | transcript | ENST00000299633.7 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
HDHD2_chr18_47102410_47155500 | 47133497 | T | TTGGGTAT others(8): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(179): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 others(122): Show |
182 | 366 | 0.4973 | 15 | c.310 others(30): Show |
HDHD2 | ENSG00000167220.12 | transcript | ENST00000300605.11 | protein_coding | 3/6 | chr18 | TogoVar | |||||||
HDHD3_chr9_113368422_113381986 | 113381760 | C | CTTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG00741.hp1 HG02451.hp2 HG02895.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0004a0002c0002t0008 | a0001c0001t0002g0008 a0002c0002t0004g0023 a0002c0002t0004g0078 others(1): Show |
5 | 464 | 0.0108 | 15 | c.-53 others(26): Show |
HDHD3 | ENSG00000119431.10 | transcript | ENST00000374180.4 | protein_coding | 4775 | chr9 | TogoVar | |||||||
HDHD5_chr22_17132520_17164277 | 17157114 | A | ACACACAC others(8): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 422 | 0.0024 | 15 | c.126 others(32): Show |
HDHD5 | ENSG00000069998.12 | transcript | ENST00000336737.8 | protein_coding | 1/7 | chr22 | TogoVar | |||||||
HEATR4_chr14_73473484_73563947 | 73477094 | A | ATATATTT others(8): Show |
downstream_gene_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0328 | 1 | 368 | 0.0027 | 15 | c.*15 others(26): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 1389 | chr14 | TogoVar | |||||||
HEATR4_chr14_73473484_73563947 | 73479419 | T | TTTCTTTC others(8): Show |
intron_variant | MODIFIER | HG03831.hp2 NA19088.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0001 | a0001c0001t0004g0350 a0001c0002t0001g0054 |
2 | 368 | 0.0054 | 15 | c.284 others(32): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 17/17 | chr14 | TogoVar | |||||||
HEATR4_chr14_73473484_73563947 | 73506804 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0071 | 1 | 368 | 0.0027 | 15 | c.188 others(32): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 9/17 | chr14 | TogoVar | |||||||
HEATR4_chr14_73473484_73563947 | 73524310 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02723.hp2 HG03098.hp2 |
a0002 | a0002c0005 | a0002c0005t0003 | a0002c0005t0003g0151 a0002c0005t0003g0200 |
2 | 368 | 0.0054 | 15 | c.-72 others(32): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 2/17 | chr14 | TogoVar | |||||||
HEATR4_chr14_73473484_73563947 | 73524310 | A | AAAAAAAT others(8): Show |
intron_variant | MODIFIER | HG02970.hp2 HG03041.hp2 |
a0001a0007 | a0001c0006a0007c0010 | a0001c0006t0003a0007c0010t0003 | a0001c0006t0003g0150 a0007c0010t0003g0254 |
2 | 368 | 0.0054 | 15 | c.-72 others(32): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 2/17 | chr14 | TogoVar | |||||||
HEATR5A_chr14_31286788_31425550 | 31344268 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0087 | 1 | 354 | 0.0028 | 15 | c.305 others(32): Show |
HEATR5A | ENSG00000129493.15 | transcript | ENST00000543095.7 | protein_coding | 20/35 | chr14 | TogoVar | |||||||
HEATR5B_chr2_36975895_37089372 | 36978063 | C | CAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG02559.hp2 | a0004 | a0004c0018 | a0004c0018t0013 | a0004c0018t0013g0313 | 1 | 314 | 0.0032 | 15 | c.*34 others(26): Show |
HEATR5B | ENSG00000008869.12 | transcript | ENST00000233099.6 | protein_coding | 2831 | chr2 | TogoVar | |||||||
HEATR5B_chr2_36975895_37089372 | 36984200 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02004.hp1 HG03239.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0002t0001a0001c0005t0001 | a0001c0001t0001g0192 a0001c0001t0001g0200 a0001c0002t0001g0271 others(1): Show |
4 | 314 | 0.0127 | 15 | c.591 others(34): Show |
HEATR5B | ENSG00000008869.12 | transcript | ENST00000233099.6 | protein_coding | 35/35 | chr2 | TogoVar | |||||||
HEATR5B_chr2_36975895_37089372 | 36984215 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0045 | 1 | 314 | 0.0032 | 15 | c.591 others(34): Show |
HEATR5B | ENSG00000008869.12 | transcript | ENST00000233099.6 | protein_coding | 35/35 | chr2 | TogoVar | |||||||
HEATR5B_chr2_36975895_37089372 | 37082086 | T | TTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00423.hp1 NA18945.hp2 NA19091.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0215 |
3 | 314 | 0.0096 | 15 | c.126 others(32): Show |
HEATR5B | ENSG00000008869.12 | transcript | ENST00000233099.6 | protein_coding | 2/35 | chr2 | TogoVar | |||||||
HEATR9_chr17_35849955_35873891 | 35860479 | T | TTTATTTA others(8): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0098 | 1 | 379 | 0.0026 | 15 | c.757 others(32): Show |
HEATR9 | ENSG00000270379.6 | transcript | ENST00000604834.6 | protein_coding | 8/14 | chr17 | TogoVar | |||||||
HEBP2_chr6_138399223_138427197 | 138423815 | C | CAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG01928.hp2 HG02148.hp1 HG03834.hp2 |
a0001 | a0001c0002 | a0001c0002t0015 | a0001c0002t0015g0005 | 3 | 316 | 0.0095 | 15 | c.*10 others(28): Show |
HEBP2 | ENSG00000051620.11 | transcript | ENST00000607197.6 | protein_coding | 1619 | chr6 | TogoVar | |||||||
HECTD1_chr14_31095117_31212793 | 31134042 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02683.hp1 HG03516.hp1 others(5): Show |
a0001a0003 | a0001c0002a0001c0003a0001c0004others(2): Show | a0001c0002t0013a0001c0003t0001a0001c0004t0001others(2): Show | a0001c0002t0013g0341 a0001c0003t0001g0267 a0001c0003t0001g0273 others(5): Show |
8 | 342 | 0.0234 | 15 | c.357 others(32): Show |
HECTD1 | ENSG00000092148.14 | transcript | ENST00000399332.6 | protein_coding | 22/42 | chr14 | TogoVar | |||||||
HECTD1_chr14_31095117_31212793 | 31179429 | C | CATAAAAT others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00544.hp2 others(43): Show |
a0001 | a0001c0002a0001c0003a0001c0006others(6): Show | a0001c0002t0013a0001c0002t0014a0001c0003t0001others(8): Show | a0001c0002t0013g0341 a0001c0002t0014g0342 a0001c0003t0001g0236 others(43): Show |
46 | 342 | 0.1345 | 15 | c.141 others(32): Show |
HECTD1 | ENSG00000092148.14 | transcript | ENST00000399332.6 | protein_coding | 2/42 | chr14 | TogoVar | |||||||
HECTD4_chr12_112155195_112387431 | 112155302 | A | ATTTTTTT others(8): Show |
downstream_gene_variant | MODIFIER | HG01934.hp2 HG02148.hp1 HG02257.hp2 others(4): Show |
a0001 | a0001c0002a0001c0018 | a0001c0002t0001a0001c0018t0001 | a0001c0002t0001g0164 a0001c0002t0001g0177 a0001c0002t0001g0185 others(4): Show |
7 | 270 | 0.0259 | 15 | c.*70 others(26): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 4892 | chr12 | TogoVar | |||||||
HECTD4_chr12_112155195_112387431 | 112246141 | A | AAAAATAA others(8): Show |
intron_variant | MODIFIER | HG02071.hp1 NA18945.hp1 |
a0001a0002 | a0001c0002a0002c0005 | a0001c0002t0020a0002c0005t0001 | a0001c0002t0020g0270 a0002c0005t0001g0197 |
2 | 270 | 0.0074 | 15 | c.451 others(32): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 29/75 | chr12 | TogoVar |