| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HERC3_chr4_88587480_88713539 | 88704863 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03195.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0002 | a0001c0001t0002g0034a0001c0004t0002g0265 | 2 | 296 | 0.0068 | 13 | c.294 others(30): Show |
HERC3 | ENSG00000138641.18 | transcript | ENST00000402738.6 | protein_coding | 25/25 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| HERC4_chr10_67916905_68080283 | 67927430 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 360 | 0.0028 | 13 | c.283 others(32): Show |
HERC4 | ENSG00000148634.16 | transcript | ENST00000373700.9 | protein_coding | 23/24 | chr10 | TogoVar | ||||||
| HERC4_chr10_67916905_68080283 | 67929819 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00642.hp1 HG02055.hp1 |
a0001 | a0001c0003a0001c0005 | a0001c0003t0003a0001c0005t0003 | a0001c0003t0003g0357a0001c0005t0003g0353 | 2 | 360 | 0.0056 | 13 | c.283 others(32): Show |
HERC4 | ENSG00000148634.16 | transcript | ENST00000373700.9 | protein_coding | 23/24 | chr10 | TogoVar | ||||||
| HERC4_chr10_67916905_68080283 | 68059851 | A | ATCATAAT others(6): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01257.hp1 HG01258.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078a0001c0001t0001g0080a0001c0001t0001g0088others(13): Show | 16 | 360 | 0.0444 | 13 | c.226 others(32): Show |
HERC4 | ENSG00000148634.16 | transcript | ENST00000373700.9 | protein_coding | 3/24 | chr10 | TogoVar | ||||||
| HERC4_chr10_67916905_68080283 | 68059905 | T | TATTATAT others(6): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0296a0001c0001t0008g0297a0001c0001t0008g0298 | 3 | 360 | 0.0083 | 13 | c.226 others(32): Show |
HERC4 | ENSG00000148634.16 | transcript | ENST00000373700.9 | protein_coding | 3/24 | chr10 | TogoVar | ||||||
| HERC6_chr4_88373852_88448097 | 88379884 | T | TATATAAT others(6): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143a0001c0001t0001g0144 | 2 | 174 | 0.0115 | 13 | c.199 others(28): Show |
HERC6 | ENSG00000138642.16 | transcript | ENST00000264346.12 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| HERC6_chr4_88373852_88448097 | 88380187 | T | TATATAAT others(6): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 174 | 0.0058 | 13 | c.199 others(30): Show |
HERC6 | ENSG00000138642.16 | transcript | ENST00000264346.12 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| HERC6_chr4_88373852_88448097 | 88380319 | T | TATATAAT others(6): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02258.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088a0001c0001t0001g0089 | 2 | 174 | 0.0115 | 13 | c.199 others(30): Show |
HERC6 | ENSG00000138642.16 | transcript | ENST00000264346.12 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| HERC6_chr4_88373852_88448097 | 88380376 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 174 | 0.0058 | 13 | c.199 others(30): Show |
HERC6 | ENSG00000138642.16 | transcript | ENST00000264346.12 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| HERPUD1_chr16_56927142_56949864 | 56934702 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02486.hp1 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0046a0001c0001t0011g0064 | 2 | 428 | 0.0047 | 13 | c.148 others(28): Show |
HERPUD1 | ENSG00000051108.15 | transcript | ENST00000439977.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| HERPUD2_chr7_35627659_35700135 | 35698914 | C | CAAAAAAA others(6): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 HG00642.hp2 HG00673.hp2 others(26): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002a0002c0002t0012 | a0001c0001t0001g0101a0002c0002t0002g0292a0002c0002t0002g0304others(26): Show | 29 | 392 | 0.0740 | 13 | c.-44 others(24): Show |
HERPUD2 | ENSG00000122557.11 | transcript | ENST00000311350.8 | protein_coding | 3780 | chr7 | TogoVar | ||||||
| HES1_chr3_194131148_194143732 | 194143211 | A | AAACAAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0001 | 1 | 434 | 0.0023 | 13 | c.*49 others(24): Show |
HES1 | ENSG00000114315.4 | transcript | ENST00000232424.4 | protein_coding | 4480 | chr3 | TogoVar | ||||||
| HESX1_chr3_57192838_57204978 | 57194637 | T | TGGGAGGA others(6): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00423.hp1 others(198): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0003 | a0001c0001t0001a0002c0002t0001a0005c0003t0001 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0010others(5): Show | 201 | 336 | 0.5982 | 13 | c.*35 others(24): Show |
HESX1 | ENSG00000163666.10 | transcript | ENST00000295934.8 | protein_coding | 3200 | chr3 | TogoVar | ||||||
| HEXA_chr15_72335924_72381014 | 72340841 | T | TACACACA others(6): Show |
downstream_gene_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 354 | 0.0028 | 13 | c.*32 others(24): Show |
HEXA | ENSG00000213614.11 | transcript | ENST00000268097.10 | protein_coding | 82 | chr15 | TogoVar | ||||||
| HEXA_chr15_72335924_72381014 | 72370697 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(212): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0003a0003c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0019others(153): Show | 215 | 354 | 0.6073 | 13 | c.253 others(30): Show |
HEXA | ENSG00000213614.11 | transcript | ENST00000268097.10 | protein_coding | 1/13 | chr15 | TogoVar | ||||||
| HEXD_chr17_82413347_82447645 | 82433091 | A | AAAAATAT others(6): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0073 | 1 | 400 | 0.0025 | 13 | c.283 others(28): Show |
HEXD | ENSG00000169660.17 | transcript | ENST00000327949.15 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| HFM1_chr1_91255766_91409837 | 91264361 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0201a0002c0003t0001g0324 | 2 | 362 | 0.0055 | 13 | c.397 others(32): Show |
HFM1 | ENSG00000162669.16 | transcript | ENST00000370425.8 | protein_coding | 36/38 | chr1 | TogoVar | ||||||
| HFM1_chr1_91255766_91409837 | 91364632 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0318 | 1 | 362 | 0.0028 | 13 | c.168 others(34): Show |
HFM1 | ENSG00000162669.16 | transcript | ENST00000370425.8 | protein_coding | 13/38 | chr1 | TogoVar | ||||||
| HFM1_chr1_91255766_91409837 | 91364632 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01952.hp2 HG02129.hp2 others(16): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001a0001c0002t0001g0021a0001c0002t0001g0022others(15): Show | 19 | 362 | 0.0525 | 13 | c.168 others(34): Show |
HFM1 | ENSG00000162669.16 | transcript | ENST00000370425.8 | protein_coding | 13/38 | chr1 | TogoVar | ||||||
| HFM1_chr1_91255766_91409837 | 91364632 | A | ATATATTT others(6): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02717.hp1 NA18967.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0005 | a0001c0002t0001g0009a0001c0002t0001g0024a0001c0002t0001g0048others(1): Show | 4 | 362 | 0.0111 | 13 | c.168 others(34): Show |
HFM1 | ENSG00000162669.16 | transcript | ENST00000370425.8 | protein_coding | 13/38 | chr1 | TogoVar | ||||||
| HFM1_chr1_91255766_91409837 | 91364632 | A | ATATTTTT others(6): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0049 | 1 | 362 | 0.0028 | 13 | c.168 others(34): Show |
HFM1 | ENSG00000162669.16 | transcript | ENST00000370425.8 | protein_coding | 13/38 | chr1 | TogoVar | ||||||
| HFM1_chr1_91255766_91409837 | 91406578 | T | TAATCTTT others(6): Show |
upstream_gene_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0279 | 1 | 362 | 0.0028 | 13 | c.-18 others(24): Show |
HFM1 | ENSG00000162669.16 | transcript | ENST00000370425.8 | protein_coding | 1742 | chr1 | TogoVar | ||||||
| HGF_chr7_81694010_81775047 | 81736894 | G | GTGTGTGT others(6): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0099 | 1 | 272 | 0.0037 | 13 | c.865 others(30): Show |
HGF | ENSG00000019991.18 | transcript | ENST00000222390.11 | protein_coding | 7/17 | chr7 | TogoVar | ||||||
| HHAT_chr1_210323902_210681290 | 210326117 | G | GTTTTTTT others(6): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 HG02647.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0069a0001c0001t0010g0067 | 2 | 268 | 0.0075 | 13 | c.-30 others(24): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 2784 | chr1 | TogoVar | ||||||
| HHAT_chr1_210323902_210681290 | 210334178 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01070.hp1 HG01175.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0089a0001c0001t0001g0090a0001c0001t0001g0093others(19): Show | 22 | 268 | 0.0821 | 13 | c.-44 others(30): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| HHAT_chr1_210323902_210681290 | 210386230 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0141 | 1 | 268 | 0.0037 | 13 | c.160 others(30): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| HHAT_chr1_210323902_210681290 | 210494542 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01169.hp1 HG01192.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0015others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0096a0001c0001t0001g0223a0001c0001t0001g0248others(11): Show | 14 | 268 | 0.0522 | 13 | c.100 others(34): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| HHAT_chr1_210323902_210681290 | 210569373 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02922.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0204a0001c0001t0008g0004 | 2 | 268 | 0.0075 | 13 | c.104 others(34): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| HHAT_chr1_210323902_210681290 | 210577637 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01884.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0008 | a0001c0001t0007g0074a0001c0001t0008g0004 | 2 | 268 | 0.0075 | 13 | c.104 others(34): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| HHIPL1_chr14_99640129_99685569 | 99661421 | A | AGGAAGGA others(6): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0166 | 1 | 374 | 0.0027 | 13 | c.150 others(32): Show |
HHIPL1 | ENSG00000182218.10 | transcript | ENST00000330710.10 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| HHIPL2_chr1_222517264_222553104 | 222552222 | T | TAAAAAAA others(6): Show |
upstream_gene_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0316 | 1 | 418 | 0.0024 | 13 | c.-41 others(24): Show |
HHIPL2 | ENSG00000143512.13 | transcript | ENST00000343410.7 | protein_coding | 4119 | chr1 | TogoVar | ||||||
| HHIP_chr4_144641156_144750271 | 144707646 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(109): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(22): Show | a0001c0001t0001g0006a0001c0001t0001g0009a0001c0001t0001g0010others(103): Show | 112 | 316 | 0.3544 | 13 | c.115 others(30): Show |
HHIP | ENSG00000164161.10 | transcript | ENST00000296575.8 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| HHIP_chr4_144641156_144750271 | 144707649 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0172 | 1 | 316 | 0.0032 | 13 | c.115 others(30): Show |
HHIP | ENSG00000164161.10 | transcript | ENST00000296575.8 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| HHLA1_chr8_132056480_132116157 | 132070011 | C | CGGGGGGG others(6): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(29): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0001c0007others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(10): Show | a0001c0001t0001g0119a0001c0001t0001g0128a0001c0001t0001g0136others(29): Show | 32 | 380 | 0.0842 | 13 | c.146 others(32): Show |
HHLA1 | ENSG00000132297.13 | transcript | ENST00000414222.2 | protein_coding | 15/16 | chr8 | TogoVar | ||||||
| HHLA1_chr8_132056480_132116157 | 132070015 | G | GGGGGGGG others(6): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0009 | a0001c0009t0008 | a0001c0009t0008g0343 | 1 | 380 | 0.0026 | 13 | c.146 others(32): Show |
HHLA1 | ENSG00000132297.13 | transcript | ENST00000414222.2 | protein_coding | 15/16 | chr8 | TogoVar | ||||||
| HHLA2_chr3_108291548_108383285 | 108340908 | T | TTTTCCTT others(6): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0208 | 1 | 322 | 0.0031 | 13 | c.-26 others(32): Show |
HHLA2 | ENSG00000114455.15 | transcript | ENST00000467761.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| HIBADH_chr7_27520442_27667883 | 27527917 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02109.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0116 | 2 | 326 | 0.0061 | 13 | c.853 others(30): Show |
HIBADH | ENSG00000106049.9 | transcript | ENST00000265395.7 | protein_coding | 7/7 | chr7 | TogoVar | ||||||
| HIBADH_chr7_27520442_27667883 | 27645368 | A | ATGTTTTT others(6): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01081.hp2 HG01123.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145a0001c0001t0001g0152a0001c0001t0001g0176others(4): Show | 7 | 326 | 0.0215 | 13 | c.252 others(30): Show |
HIBADH | ENSG00000106049.9 | transcript | ENST00000265395.7 | protein_coding | 2/7 | chr7 | TogoVar | ||||||
| HIC1_chr17_2050103_2068241 | 2066694 | C | CACACACA others(6): Show |
downstream_gene_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0011 | 1 | 414 | 0.0024 | 13 | c.*78 others(24): Show |
HIC1 | ENSG00000177374.13 | transcript | ENST00000619757.5 | protein_coding | 3454 | chr17 | TogoVar | ||||||
| HIC2_chr22_21412371_21456463 | 21417609 | C | CGGGGCCG others(6): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0221 | 1 | 288 | 0.0035 | 13 | c.-74 others(26): Show |
HIC2 | ENSG00000169635.10 | transcript | ENST00000407464.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| HIC2_chr22_21412371_21456463 | 21425165 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 HG01346.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0001g0152a0001c0001t0003g0084a0001c0001t0003g0189others(10): Show | 14 | 288 | 0.0486 | 13 | c.-74 others(30): Show |
HIC2 | ENSG00000169635.10 | transcript | ENST00000407464.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| HIF1A_chr14_61690513_61753258 | 61724381 | C | CTCTCTCT others(6): Show |
intron_variant | MODIFIER | NA18988.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 322 | 0.0031 | 13 | c.458 others(30): Show |
HIF1A | ENSG00000100644.17 | transcript | ENST00000337138.9 | protein_coding | 4/14 | chr14 | TogoVar | ||||||
| HIF3A_chr19_46292042_46348433 | 46293851 | C | CAAAAAAA others(6): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG01123.hp2 HG01256.hp2 others(14): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0023others(8): Show | a0001c0001t0001g0003a0001c0001t0001g0029a0001c0001t0001g0042others(14): Show | 17 | 418 | 0.0407 | 13 | c.-32 others(24): Show |
HIF3A | ENSG00000124440.16 | transcript | ENST00000377670.9 | protein_coding | 3190 | chr19 | TogoVar | ||||||
| HIF3A_chr19_46292042_46348433 | 46295482 | C | CAAAAAAA others(6): Show |
upstream_gene_variant | MODIFIER | HG03225.hp2 NA21309.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0053a0001c0006t0025 | a0001c0001t0053g0199a0001c0006t0025g0358 | 2 | 418 | 0.0048 | 13 | c.-15 others(24): Show |
HIF3A | ENSG00000124440.16 | transcript | ENST00000377670.9 | protein_coding | 1559 | chr19 | TogoVar | ||||||
| HIGD2B_chr15_72670798_72691182 | 72687123 | A | ATTTTTTT others(6): Show |
upstream_gene_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 436 | 0.0023 | 13 | c.-14 others(24): Show |
HIGD2B | ENSG00000175202.6 | transcript | ENST00000311755.6 | protein_coding | 942 | chr15 | TogoVar | ||||||
| HIGD2B_chr15_72670798_72691182 | 72687124 | C | CTTTTTTT others(6): Show |
upstream_gene_variant | MODIFIER | HG01070.hp1 HG03017.hp2 HG06807.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0023others(6): Show | 12 | 436 | 0.0275 | 13 | c.-15 others(24): Show |
HIGD2B | ENSG00000175202.6 | transcript | ENST00000311755.6 | protein_coding | 943 | chr15 | TogoVar | ||||||
| HIKESHI_chr11_86297240_86350943 | 86318303 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 398 | 0.0025 | 13 | c.268 others(32): Show |
HIKESHI | ENSG00000149196.17 | transcript | ENST00000278483.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| HIKESHI_chr11_86297240_86350943 | 86319242 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG02055.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0360a0001c0001t0001g0365 | 2 | 398 | 0.0050 | 13 | c.268 others(32): Show |
HIKESHI | ENSG00000149196.17 | transcript | ENST00000278483.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| HILPDA_chr7_128450878_128463418 | 128457751 | A | AAAATACA others(6): Show |
3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00639.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010 | a0001c0001t0004g0001a0001c0001t0010g0001 | 23 | 424 | 0.0543 | 13 | c.*29 others(22): Show |
HILPDA | ENSG00000135245.10 | transcript | ENST00000257696.5 | protein_coding | 2/2 | 306 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||
| HIP1_chr7_75528298_75743941 | 75551189 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01192.hp2 HG01255.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0216a0001c0001t0003g0014a0001c0001t0003g0049others(10): Show | 13 | 254 | 0.0512 | 13 | c.229 others(32): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 22/30 | chr7 | TogoVar |