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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HECW2_chr2_196189072_196598554 | 196238452 | TTTCTTTC | T | intron_variant | MODIFIER | HG01884.hp2 HG02145.hp1 HG02723.hp1 others(2): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0024 | a0001c0001t0004a0001c0002t0003a0001c0002t0005others(1): Show | a0001c0001t0004g0107a0001c0001t0004g0110a0001c0002t0003g0106others(2): Show | 5 | 112 | 0.0446 | -7 | c.376 others(26): Show |
HECW2 | ENSG00000138411.13 | transcript | ENST00000644978.2 | protein_coding | 21/28 | chr2 | TogoVar | ||||||
HECW2_chr2_196189072_196598554 | 196460776 | ATTTTTTT | A | intron_variant | MODIFIER | HG02717.hp2 HG03098.hp1 HG03098.hp2 others(2): Show |
a0001 | a0001c0002a0001c0011a0001c0023others(1): Show | a0001c0002t0005a0001c0002t0011a0001c0011t0003others(2): Show | a0001c0002t0005g0091a0001c0002t0011g0068a0001c0011t0003g0001others(2): Show | 5 | 112 | 0.0446 | -7 | c.-35 others(26): Show |
HECW2 | ENSG00000138411.13 | transcript | ENST00000644978.2 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
HECW2_chr2_196189072_196598554 | 196518654 | CAAAAAAA | C | intron_variant | MODIFIER | HG00642.hp2 HG00733.hp1 HG01168.hp2 others(28): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0013a0001c0001t0001g0072a0001c0001t0001g0089others(28): Show | 31 | 112 | 0.2768 | -7 | c.-36 others(26): Show |
HECW2 | ENSG00000138411.13 | transcript | ENST00000644978.2 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
HEG1_chr3_124960710_125060997 | 125008814 | AAAAACAC | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(262): Show |
a0001a0002a0003others(44): Show | a0001c0001a0001c0002a0001c0010others(71): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(179): Show | a0001c0001t0004g0275a0001c0001t0004g0276a0001c0001t0004g0277others(258): Show | 265 | 362 | 0.7320 | -7 | c.319 others(24): Show |
HEG1 | ENSG00000173706.15 | transcript | ENST00000311127.9 | protein_coding | 8/16 | chr3 | TogoVar | ||||||
HEG1_chr3_124960710_125060997 | 125022693 | AAAGAAAT | A | intron_variant | MODIFIER | HG00323.hp1 HG00735.hp1 HG02165.hp1 others(13): Show |
a0001a0006a0009others(1): Show | a0001c0001a0001c0002a0001c0010others(3): Show | a0001c0001t0004a0001c0001t0042a0001c0001t0077others(7): Show | a0001c0001t0004g0275a0001c0001t0004g0276a0001c0001t0004g0277others(13): Show | 16 | 362 | 0.0442 | -7 | c.914 others(24): Show |
HEG1 | ENSG00000173706.15 | transcript | ENST00000311127.9 | protein_coding | 3/16 | chr3 | TogoVar | ||||||
HELLS_chr10_94540788_94607099 | 94575766 | TGTGTTTG | T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00423.hp1 others(56): Show |
a0001 | a0001c0001a0001c0014 | a0001c0001t0001a0001c0001t0002a0001c0014t0002 | a0001c0001t0001g0098a0001c0001t0001g0116a0001c0001t0001g0183others(52): Show | 59 | 358 | 0.1648 | -7 | c.889 others(22): Show |
HELLS | ENSG00000119969.16 | transcript | ENST00000348459.10 | protein_coding | 9/21 | chr10 | TogoVar | ||||||
HELLS_chr10_94540788_94607099 | 94580149 | ATATATAT | A | intron_variant | MODIFIER | HG00140.hp2 HG01069.hp2 HG01071.hp2 others(14): Show |
a0001 | a0001c0002a0001c0007a0001c0009 | a0001c0002t0001a0001c0007t0001a0001c0009t0001 | a0001c0002t0001g0011a0001c0002t0001g0217a0001c0002t0001g0219others(13): Show | 17 | 358 | 0.0475 | -7 | c.103 others(26): Show |
HELLS | ENSG00000119969.16 | transcript | ENST00000348459.10 | protein_coding | 10/21 | chr10 | TogoVar | ||||||
HEMGN_chr9_97921791_97943172 | 97923065 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00733.hp2 HG01168.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0001a0001c0001t0001g0017a0001c0001t0001g0071others(1): Show | 7 | 314 | 0.0223 | -7 | c.*43 others(18): Show |
HEMGN | ENSG00000136929.13 | transcript | ENST00000616898.2 | protein_coding | 3725 | chr9 | TogoVar | ||||||
HERC1_chr15_63603618_63838948 | 63768024 | TATTCTTA | T | intron_variant | MODIFIER | HG02258.hp1 HG02559.hp2 HG02630.hp2 others(8): Show |
a0004 | a0004c0007a0004c0014 | a0004c0007t0001a0004c0014t0001 | a0004c0007t0001g0007a0004c0007t0001g0008a0004c0007t0001g0009others(8): Show | 11 | 216 | 0.0509 | -7 | c.931 others(24): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 2/77 | chr15 | TogoVar | ||||||
HERC2_chr15_28106040_28327179 | 28316222 | CAAAAAAA | C | intron_variant | MODIFIER | HG02257.hp2 HG02622.hp2 HG02630.hp2 others(6): Show |
a0001a0003a0030others(1): Show | a0001c0001a0003c0004a0030c0062others(1): Show | a0001c0001t0001a0003c0004t0002a0030c0062t0002others(1): Show | a0001c0001t0001g0107a0003c0004t0002g0009a0003c0004t0002g0010others(6): Show | 9 | 250 | 0.0360 | -7 | c.72+ others(22): Show |
HERC2 | ENSG00000128731.18 | transcript | ENST00000261609.13 | protein_coding | 2/92 | chr15 | TogoVar | ||||||
HERC2_chr15_28106040_28327179 | 28326864 | GTCTCTAC | G | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00438.hp1 others(227): Show |
a0001a0002a0003others(29): Show | a0001c0001a0001c0003a0001c0005others(62): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(67): Show | a0001c0001t0001g0036a0001c0001t0001g0098a0001c0001t0001g0099others(227): Show | 230 | 250 | 0.9200 | -7 | c.-48 others(18): Show |
HERC2 | ENSG00000128731.18 | transcript | ENST00000261609.13 | protein_coding | 4686 | chr15 | TogoVar | ||||||
HERC4_chr10_67916905_68080283 | 68059714 | AATATTAT | A | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00544.hp1 others(65): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0006a0001c0003t0004 | a0001c0001t0001g0017a0001c0001t0001g0018a0001c0001t0001g0019others(65): Show | 68 | 360 | 0.1889 | -7 | c.226 others(26): Show |
HERC4 | ENSG00000148634.16 | transcript | ENST00000373700.9 | protein_coding | 3/24 | chr10 | TogoVar | ||||||
HERC4_chr10_67916905_68080283 | 68059726 | TATATATC | T | intron_variant | MODIFIER | HG02145.hp2 NA19068.hp2 NA19240.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0002t0007 | a0001c0001t0001g0081a0001c0001t0006g0062a0001c0002t0007g0292 | 3 | 360 | 0.0083 | -7 | c.226 others(26): Show |
HERC4 | ENSG00000148634.16 | transcript | ENST00000373700.9 | protein_coding | 3/24 | chr10 | TogoVar | ||||||
HERPUD2_chr7_35627659_35700135 | 35631651 | AATAAATT | A | downstream_gene_variant | MODIFIER | HG01109.hp2 HG01243.hp2 HG01255.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0002c0002t0002 | a0001c0001t0001g0097a0001c0001t0001g0098a0001c0001t0001g0099others(11): Show | 14 | 392 | 0.0357 | -7 | c.*20 others(18): Show |
HERPUD2 | ENSG00000122557.11 | transcript | ENST00000311350.8 | protein_coding | 1007 | chr7 | TogoVar | ||||||
HES2_chr1_6410232_6424919 | 6412417 | ATTTTTTT | A | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00738.hp1 HG01070.hp2 others(122): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(16): Show | a0001c0001t0003g0003a0001c0001t0003g0009a0001c0001t0005g0005others(17): Show | 125 | 362 | 0.3453 | -7 | c.*64 others(18): Show |
HES2 | ENSG00000069812.11 | transcript | ENST00000377834.8 | protein_coding | 2814 | chr1 | TogoVar | ||||||
HEXD_chr17_82413347_82447645 | 82433128 | ATTTTTTT | A | intron_variant | MODIFIER | HG01167.hp1 HG01516.hp1 HG02040.hp1 others(9): Show |
a0001a0002a0006 | a0001c0001a0002c0004a0006c0019 | a0001c0001t0001a0002c0004t0001a0006c0019t0001 | a0001c0001t0001g0051a0001c0001t0001g0056a0001c0001t0001g0068others(9): Show | 12 | 400 | 0.0300 | -7 | c.283 others(22): Show |
HEXD | ENSG00000169660.17 | transcript | ENST00000327949.15 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
HEXD_chr17_82413347_82447645 | 82447352 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00597.hp2 HG00639.hp2 others(77): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0001c0006others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0006t0001others(2): Show | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047others(52): Show | 80 | 400 | 0.2000 | -7 | c.*49 others(18): Show |
HEXD | ENSG00000169660.17 | transcript | ENST00000327949.15 | protein_coding | 4708 | chr17 | TogoVar | ||||||
HEY1_chr8_79759010_79772767 | 79766258 | AGGCATGT | A | intron_variant | MODIFIER | HG00280.hp2 HG00642.hp2 HG01070.hp2 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010 | a0001c0001t0001g0024a0001c0001t0002g0005a0001c0001t0002g0022others(1): Show | 32 | 460 | 0.0696 | -7 | c.331 others(22): Show |
HEY1 | ENSG00000164683.19 | transcript | ENST00000354724.8 | protein_coding | 4/4 | chr8 | TogoVar | ||||||
HGF_chr7_81694010_81775047 | 81708524 | CTTTTTTT | C | intron_variant | MODIFIER | HG01243.hp2 HG02280.hp2 HG02630.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0002t0007a0001c0002t0015 | a0001c0001t0007g0106a0001c0002t0007g0093a0001c0002t0007g0095others(3): Show | 6 | 272 | 0.0221 | -7 | c.154 others(26): Show |
HGF | ENSG00000019991.18 | transcript | ENST00000222390.11 | protein_coding | 13/17 | chr7 | TogoVar | ||||||
HGS_chr17_81679011_81707121 | 81682529 | ACCGCGCC | A | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG00735.hp2 others(23): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0031others(1): Show | a0001c0001t0006a0001c0003t0001a0001c0003t0003others(2): Show | a0001c0001t0006g0116a0001c0003t0001g0023a0001c0003t0001g0111others(16): Show | 26 | 414 | 0.0628 | -7 | c.-15 others(18): Show |
HGS | ENSG00000185359.14 | transcript | ENST00000329138.9 | protein_coding | 1481 | chr17 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210326117 | GTTTTTTT | G | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02040.hp2 HG02602.hp2 others(12): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0173a0001c0001t0001g0175a0001c0001t0002g0075others(12): Show | 15 | 268 | 0.0560 | -7 | c.-30 others(18): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 2784 | chr1 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210340242 | GAAAAAAA | G | intron_variant | MODIFIER | HG00597.hp2 HG01109.hp1 HG01109.hp2 others(58): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0173a0001c0001t0001g0175a0001c0001t0001g0180others(58): Show | 61 | 268 | 0.2276 | -7 | c.-43 others(24): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HHAT_chr1_210323902_210681290 | 210394229 | CTTTTTTT | C | intron_variant | MODIFIER | HG00733.hp1 HG02257.hp2 HG03098.hp2 others(2): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0004c0005others(1): Show | a0001c0001t0002a0002c0003t0002a0002c0003t0013others(2): Show | a0001c0001t0002g0104a0002c0003t0002g0216a0002c0003t0013g0250others(2): Show | 5 | 268 | 0.0187 | -7 | c.274 others(24): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HHAT_chr1_210323902_210681290 | 210410523 | ATTTTTTT | A | intron_variant | MODIFIER | HG02074.hp1 HG03017.hp2 NA18944.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0003 | a0001c0002t0001g0228a0001c0002t0002g0053a0001c0002t0002g0184others(2): Show | 5 | 268 | 0.0187 | -7 | c.684 others(24): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HHAT_chr1_210323902_210681290 | 210589300 | AACAACAC | A | intron_variant | MODIFIER | HG00642.hp2 HG02258.hp2 HG02451.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0189a0001c0001t0001g0200a0001c0001t0002g0071others(3): Show | 6 | 268 | 0.0224 | -7 | c.124 others(26): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HHAT_chr1_210323902_210681290 | 210597704 | AGCCTGGG | A | intron_variant | MODIFIER | HG03041.hp1 HG03098.hp1 HG03516.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0008 | a0001c0001t0002g0129a0001c0001t0003g0083a0001c0002t0008g0141 | 3 | 268 | 0.0112 | -7 | c.124 others(26): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 10/11 | chr1 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210629852 | GTTTTTTT | G | intron_variant | MODIFIER | HG01978.hp1 NA18951.hp1 NA18951.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0006a0001c0001t0016others(2): Show | a0001c0001t0001g0094a0001c0001t0001g0268a0001c0001t0006g0108others(4): Show | 7 | 268 | 0.0261 | -7 | c.139 others(26): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HHAT_chr1_210323902_210681290 | 210638917 | CTTAAAAA | C | intron_variant | MODIFIER | HG01109.hp2 HG02976.hp2 HG03041.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0009 | a0001c0001t0002g0129a0001c0001t0002g0167a0001c0001t0002g0168others(5): Show | 8 | 268 | 0.0299 | -7 | c.139 others(28): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HHAT_chr1_210323902_210681290 | 210666098 | AGTAGGAT | A | intron_variant | MODIFIER | HG01978.hp2 NA18977.hp1 NA18982.hp2 |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0005a0001c0002t0005a0002c0003t0005 | a0001c0001t0005g0013a0001c0002t0005g0063a0002c0003t0005g0258 | 3 | 268 | 0.0112 | -7 | c.139 others(26): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HHAT_chr1_210323902_210681290 | 210673755 | CTTATTTA | C | intron_variant | MODIFIER | HG01981.hp2 HG03834.hp2 |
a0003 | a0003c0004 | a0003c0004t0003a0003c0004t0006 | a0003c0004t0003g0135a0003c0004t0006g0136 | 2 | 268 | 0.0075 | -7 | c.139 others(24): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HHLA1_chr8_132056480_132116157 | 132102792 | ATTTTTTT | A | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00544.hp1 others(62): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0003a0003c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0006a0001c0001t0001g0108a0001c0001t0001g0272others(60): Show | 65 | 380 | 0.1711 | -7 | c.139 others(24): Show |
HHLA1 | ENSG00000132297.13 | transcript | ENST00000414222.2 | protein_coding | 3/16 | chr8 | TogoVar | ||||||
HHLA2_chr3_108291548_108383285 | 108340909 | TTCCTTCC | T | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp1 HG01433.hp2 others(30): Show |
a0001a0002 | a0001c0002a0002c0005 | a0001c0002t0003a0001c0002t0006a0001c0002t0008others(1): Show | a0001c0002t0003g0001a0001c0002t0003g0002a0001c0002t0003g0009others(24): Show | 33 | 322 | 0.1025 | -7 | c.-26 others(26): Show |
HHLA2 | ENSG00000114455.15 | transcript | ENST00000467761.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
HHLA2_chr3_108291548_108383285 | 108360107 | CATCCTCT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(142): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0003a0002c0005others(6): Show | a0001c0001t0013a0002c0003t0001a0002c0003t0007others(18): Show | a0001c0001t0013g0208a0002c0003t0001g0053a0002c0003t0001g0089others(140): Show | 145 | 322 | 0.4503 | -7 | c.100 others(26): Show |
HHLA2 | ENSG00000114455.15 | transcript | ENST00000467761.6 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
HIBADH_chr7_27520442_27667883 | 27551602 | TTAGACGA | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(274): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(274): Show | 277 | 326 | 0.8497 | -7 | c.485 others(24): Show |
HIBADH | ENSG00000106049.9 | transcript | ENST00000265395.7 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
HIBADH_chr7_27520442_27667883 | 27642642 | GTTTTTTT | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(114): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(114): Show | 117 | 326 | 0.3589 | -7 | c.252 others(24): Show |
HIBADH | ENSG00000106049.9 | transcript | ENST00000265395.7 | protein_coding | 2/7 | chr7 | TogoVar | ||||||
HIBCH_chr2_190198920_190324826 | 190265122 | CAAAAAAA | C | intron_variant | MODIFIER | HG00621.hp1 HG00673.hp2 HG01192.hp2 others(33): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(1): Show | a0001c0001t0004g0010a0001c0001t0004g0313a0001c0001t0004g0317others(31): Show | 36 | 368 | 0.0978 | -7 | c.439 others(24): Show |
HIBCH | ENSG00000198130.16 | transcript | ENST00000359678.10 | protein_coding | 6/13 | chr2 | TogoVar | ||||||
HID1_chr17_74945742_74977759 | 74966283 | CAAAAAAA | C | intron_variant | MODIFIER | HG02055.hp2 HG02622.hp2 HG02630.hp1 others(8): Show |
a0001 | a0001c0001a0001c0006a0001c0019 | a0001c0001t0001a0001c0006t0001a0001c0019t0002 | a0001c0001t0001g0187a0001c0006t0001g0020a0001c0006t0001g0021others(3): Show | 11 | 364 | 0.0302 | -7 | c.67- others(22): Show |
HID1 | ENSG00000167861.16 | transcript | ENST00000425042.7 | protein_coding | 1/18 | chr17 | TogoVar | ||||||
HID1_chr17_74945742_74977759 | 74976742 | ATATATAT | A | upstream_gene_variant | MODIFIER | HG00738.hp2 HG01109.hp1 HG01255.hp2 others(24): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0002a0001c0003t0003others(5): Show | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0027others(16): Show | 27 | 364 | 0.0742 | -7 | c.-40 others(18): Show |
HID1 | ENSG00000167861.16 | transcript | ENST00000425042.7 | protein_coding | 3984 | chr17 | TogoVar | ||||||
HIF3A_chr19_46292042_46348433 | 46295482 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG01069.hp2 HG01070.hp2 HG01071.hp1 others(13): Show |
a0001a0002 | a0001c0005a0002c0002a0002c0007 | a0001c0005t0001a0001c0005t0028a0002c0002t0002others(3): Show | a0001c0005t0001g0051a0001c0005t0001g0052a0001c0005t0001g0053others(13): Show | 16 | 418 | 0.0383 | -7 | c.-15 others(18): Show |
HIF3A | ENSG00000124440.16 | transcript | ENST00000377670.9 | protein_coding | 1559 | chr19 | TogoVar | ||||||
HIF3A_chr19_46292042_46348433 | 46312882 | ATTTTTTT | A | intron_variant | MODIFIER | HG01256.hp2 HG01258.hp2 HG01515.hp1 others(6): Show |
a0001a0002a0003 | a0001c0001a0001c0014a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0019others(5): Show | a0001c0001t0001g0003a0001c0001t0003g0332a0001c0001t0003g0333others(6): Show | 9 | 418 | 0.0215 | -7 | c.102 others(24): Show |
HIF3A | ENSG00000124440.16 | transcript | ENST00000377670.9 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
HINT1_chr5_131154027_131170256 | 131168508 | AAAAAAAG | A | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00609.hp1 HG00621.hp2 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0012a0001c0001t0001g0024others(2): Show | 39 | 424 | 0.0920 | -7 | c.-33 others(18): Show |
HINT1 | ENSG00000169567.13 | transcript | ENST00000304043.10 | protein_coding | 3253 | chr5 | TogoVar | ||||||
HIP1R_chr12_122830457_122867961 | 122835647 | AGCGGGCG | A | intron_variant | MODIFIER | HG00099.hp1 HG01175.hp1 NA19043.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0096a0001c0001t0001g0097a0001c0005t0001g0095 | 3 | 348 | 0.0086 | -7 | c.93+ others(18): Show |
HIP1R | ENSG00000130787.14 | transcript | ENST00000253083.9 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
HIP1R_chr12_122830457_122867961 | 122864109 | GCCCCCCC | G | downstream_gene_variant | MODIFIER | HG00642.hp1 HG01099.hp2 HG01261.hp1 others(19): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0004others(7): Show | a0001c0001t0001g0010a0002c0002t0001g0002a0002c0002t0001g0013others(19): Show | 22 | 348 | 0.0632 | -7 | c.*23 others(18): Show |
HIP1R | ENSG00000130787.14 | transcript | ENST00000253083.9 | protein_coding | 1149 | chr12 | TogoVar | ||||||
HIP1_chr7_75528298_75743941 | 75589711 | AAAAAGAC | A | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00558.hp1 others(25): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0003a0001c0014others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0009a0001c0001t0001g0046a0001c0001t0001g0084others(25): Show | 28 | 254 | 0.1102 | -7 | c.384 others(24): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 4/30 | chr7 | TogoVar | ||||||
HIP1_chr7_75528298_75743941 | 75628475 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(26): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0038a0001c0001t0001g0046a0001c0001t0001g0051others(26): Show | 29 | 254 | 0.1142 | -7 | c.121 others(26): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 1/30 | chr7 | TogoVar | ||||||
HIP1_chr7_75528298_75743941 | 75647211 | CAAAAAAA | C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0023 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(2): Show | a0001c0001t0001g0218a0001c0001t0001g0239a0001c0001t0001g0240others(7): Show | 10 | 254 | 0.0394 | -7 | c.121 others(26): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 1/30 | chr7 | TogoVar | ||||||
HIP1_chr7_75528298_75743941 | 75681497 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(105): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(105): Show | 108 | 254 | 0.4252 | -7 | c.120 others(26): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 1/30 | chr7 | TogoVar | ||||||
HIP1_chr7_75528298_75743941 | 75682018 | CTTTTTTT | C | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00642.hp2 others(25): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0023others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0107a0001c0001t0001g0167a0001c0001t0001g0169others(25): Show | 28 | 254 | 0.1102 | -7 | c.120 others(26): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 1/30 | chr7 | TogoVar | ||||||
HIPK1_chr1_113924324_113982869 | 113938926 | AAATACAC | A | intron_variant | MODIFIER | HG00741.hp2 HG01884.hp1 HG02055.hp2 others(6): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0002 | a0001c0002t0001g0095a0001c0003t0002g0028a0001c0003t0002g0299others(5): Show | 9 | 382 | 0.0236 | -7 | c.-2- others(22): Show |
HIPK1 | ENSG00000163349.22 | transcript | ENST00000426820.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HIPK2_chr7_139556570_139782998 | 139629830 | CAACAGCA | C | intron_variant | MODIFIER | HG02809.hp2 HG02922.hp1 NA20129.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0002t0008 | a0001c0001t0008g0029a0001c0001t0008g0119a0001c0002t0008g0057 | 3 | 154 | 0.0195 | -7 | c.134 others(24): Show |
HIPK2 | ENSG00000064393.16 | transcript | ENST00000406875.8 | protein_coding | 4/14 | chr7 | TogoVar |