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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GUCY1A2_chr11_106669019_107023476 | 106710147 | TTATATAT others(27): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp2 HG01081.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0027a0001c0002t0012others(1): Show | a0001c0001t0001g0073a0001c0001t0027g0001a0001c0002t0012g0177others(1): Show | 4 | 256 | 0.0156 | -34 | c.183 others(53): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 6/7 | chr11 | TogoVar | ||||||
GUCY1A2_chr11_106669019_107023476 | 106922662 | CATATATA others(27): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp1 others(115): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(60): Show | a0001c0001t0001g0015a0001c0001t0001g0017a0001c0001t0001g0021others(115): Show | 118 | 256 | 0.4609 | -34 | c.120 others(55): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 4/7 | chr11 | TogoVar | ||||||
GULP1_chr2_188286874_188600926 | 188588323 | ATGAAGGA others(27): Show |
A | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0076 | 1 | 162 | 0.0062 | -34 | c.843 others(49): Show |
GULP1 | ENSG00000144366.17 | transcript | ENST00000409830.6 | protein_coding | 11/11 | chr2 | TogoVar | ||||||
GYG2_chrX_2823930_2887818 | 2845541 | GTGTATGT others(27): Show |
G | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0191 | 1 | 316 | 0.0032 | -34 | c.149 others(51): Show |
GYG2 | ENSG00000056998.21 | transcript | ENST00000398806.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
GYS1_chr19_48963130_48998309 | 48990202 | CTGCCGCC others(27): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp1 HG02451.hp1 others(8): Show |
a0001 | a0001c0001a0001c0005a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0018a0001c0005t0007others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0190a0001c0001t0001g0191others(5): Show | 11 | 390 | 0.0282 | -34 | c.300 others(51): Show |
GYS1 | ENSG00000104812.15 | transcript | ENST00000323798.8 | protein_coding | 2/15 | chr19 | TogoVar | ||||||
GYS2_chr12_21531107_21609847 | 21584371 | TGAGTGCT others(27): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00639.hp2 others(105): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0008a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0009a0001c0001t0001g0017a0001c0001t0001g0033others(101): Show | 108 | 312 | 0.3462 | -34 | c.122 others(51): Show |
GYS2 | ENSG00000111713.3 | transcript | ENST00000261195.3 | protein_coding | 1/15 | chr12 | TogoVar | ||||||
H1-8_chr3_129538175_129556467 | 129540468 | GTATATAT others(27): Show |
G | upstream_gene_variant | MODIFIER | HG02109.hp1 HG02280.hp2 HG02572.hp2 others(4): Show |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0001a0004c0008t0001 | a0001c0001t0001g0071a0004c0008t0001g0018a0004c0008t0001g0070 | 7 | 422 | 0.0166 | -34 | c.-27 others(45): Show |
H1-8 | ENSG00000178804.8 | transcript | ENST00000324382.7 | protein_coding | 2706 | chr3 | TogoVar | ||||||
H1-8_chr3_129538175_129556467 | 129540490 | ATATATAT others(27): Show |
A | upstream_gene_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 422 | 0.0024 | -34 | c.-27 others(45): Show |
H1-8 | ENSG00000178804.8 | transcript | ENST00000324382.7 | protein_coding | 2684 | chr3 | TogoVar | ||||||
H4C15_chr1_149855764_149866159 | 149865948 | AAAGAAAG others(27): Show |
A | upstream_gene_variant | MODIFIER | HG02809.hp2 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 206 | 0.0097 | -34 | c.-48 others(45): Show |
H4C15 | ENSG00000270276.3 | transcript | ENST00000579512.3 | protein_coding | 4790 | chr1 | TogoVar | ||||||
HAGH_chr16_1802629_1831825 | 1804244 | CTCTATAT others(27): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(274): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(192): Show | 277 | 436 | 0.6353 | -34 | c.*50 others(45): Show |
HAGH | ENSG00000063854.13 | transcript | ENST00000397356.8 | protein_coding | 3384 | chr16 | TogoVar | ||||||
HARBI1_chr11_46597861_46622227 | 46622076 | CATATATA others(27): Show |
C | upstream_gene_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 258 | 0.0039 | -34 | c.-51 others(45): Show |
HARBI1 | ENSG00000180423.4 | transcript | ENST00000326737.3 | protein_coding | 4850 | chr11 | TogoVar | ||||||
HAVCR1_chr5_157024413_157064116 | 157044408 | GGAAGGAA others(27): Show |
G | intron_variant | MODIFIER | HG02717.hp2 HG03540.hp2 |
a0008 | a0008c0010 | a0008c0010t0004 | a0008c0010t0004g0214a0008c0010t0004g0231 | 2 | 352 | 0.0057 | -34 | c.782 others(51): Show |
HAVCR1 | ENSG00000113249.14 | transcript | ENST00000523175.6 | protein_coding | 5/8 | chr5 | TogoVar | ||||||
HAVCR1_chr5_157024413_157064116 | 157044586 | GGAAAGAA others(27): Show |
G | intron_variant | MODIFIER | NA19043.hp1 | a0008 | a0008c0010 | a0008c0010t0004 | a0008c0010t0004g0223 | 1 | 352 | 0.0028 | -34 | c.782 others(51): Show |
HAVCR1 | ENSG00000113249.14 | transcript | ENST00000523175.6 | protein_coding | 5/8 | chr5 | TogoVar | ||||||
HBA1_chr16_171680_182522 | 178791 | ACTAAAAA others(27): Show |
A | downstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 398 | 0.0025 | -34 | c.*13 others(45): Show |
HBA1 | ENSG00000206172.8 | transcript | ENST00000320868.9 | protein_coding | 1270 | chr16 | TogoVar | ||||||
HBQ1_chr16_175459_186179 | 178791 | ACTAAAAA others(27): Show |
A | upstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 384 | 0.0026 | -34 | c.-16 others(45): Show |
HBQ1 | ENSG00000086506.3 | transcript | ENST00000199708.3 | protein_coding | 1667 | chr16 | TogoVar | ||||||
HCK_chr20_32047242_32106856 | 32054475 | TAAAAAAA others(27): Show |
T | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 290 | 0.0035 | -34 | c.62+ others(49): Show |
HCK | ENSG00000101336.18 | transcript | ENST00000375852.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
HCN1_chr5_45249948_45701380 | 45375584 | ATATTATA others(27): Show |
A | intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0071 | 1 | 226 | 0.0044 | -34 | c.123 others(55): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 4/7 | chr5 | TogoVar | ||||||
HCN1_chr5_45249948_45701380 | 45375658 | AGATCATA others(27): Show |
A | intron_variant | MODIFIER | HG02451.hp1 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0115a0001c0001t0007g0214 | 2 | 226 | 0.0089 | -34 | c.123 others(55): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 4/7 | chr5 | TogoVar | ||||||
HDAC7_chr12_47777722_47824903 | 47801100 | AAGCTCAG others(27): Show |
A | intron_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0187 | 1 | 380 | 0.0026 | -34 | c.70+ others(49): Show |
HDAC7 | ENSG00000061273.18 | transcript | ENST00000080059.12 | protein_coding | 2/25 | chr12 | TogoVar | ||||||
HDAC7_chr12_47777722_47824903 | 47810814 | CTCTCTCT others(27): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG01168.hp1 HG01169.hp2 others(27): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0013a0001c0001t0001g0016a0001c0001t0001g0161others(25): Show | 30 | 380 | 0.0790 | -34 | c.20- others(49): Show |
HDAC7 | ENSG00000061273.18 | transcript | ENST00000080059.12 | protein_coding | 1/25 | chr12 | TogoVar | ||||||
HDAC9_chr7_18490749_19007416 | 18980682 | CTTCTTGT others(27): Show |
C | intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0134 | 1 | 156 | 0.0064 | -34 | c.317 others(53): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 25/25 | chr7 | TogoVar | ||||||
HEATR4_chr14_73473484_73563947 | 73509810 | CCATATAT others(27): Show |
C | intron_variant | MODIFIER | HG03041.hp2 HG03130.hp2 HG03195.hp2 others(4): Show |
a0001a0005 | a0001c0003a0005c0010 | a0001c0003t0004a0001c0003t0015a0005c0010t0003 | a0001c0003t0004g0144a0001c0003t0004g0145a0001c0003t0004g0335others(4): Show | 7 | 368 | 0.0190 | -34 | c.155 others(51): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 7/17 | chr14 | TogoVar | ||||||
HEATR4_chr14_73473484_73563947 | 73509840 | ATATATAT others(27): Show |
A | intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0338 | 1 | 368 | 0.0027 | -34 | c.155 others(51): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 7/17 | chr14 | TogoVar | ||||||
HEATR5A_chr14_31286788_31425550 | 31336213 | CATACATA others(27): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG02055.hp1 HG02280.hp2 others(11): Show |
a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0060a0005c0005t0002g0072a0005c0005t0002g0073others(11): Show | 14 | 354 | 0.0396 | -34 | c.336 others(53): Show |
HEATR5A | ENSG00000129493.15 | transcript | ENST00000543095.7 | protein_coding | 22/35 | chr14 | TogoVar | ||||||
HEATR5A_chr14_31286788_31425550 | 31407580 | TTATTTAT others(27): Show |
T | intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0313 | 1 | 354 | 0.0028 | -34 | c.-74 others(51): Show |
HEATR5A | ENSG00000129493.15 | transcript | ENST00000543095.7 | protein_coding | 1/35 | chr14 | TogoVar | ||||||
HECW1_chr7_43107647_43571001 | 43385208 | CCCCTCTC others(27): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02615.hp2 HG02630.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0009a0001c0003t0001 | a0001c0002t0001g0099a0001c0002t0009g0123a0001c0003t0001g0135 | 3 | 182 | 0.0165 | -34 | c.556 others(53): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
HECW1_chr7_43107647_43571001 | 43385242 | TCCCTCTC others(27): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG02622.hp1 HG02723.hp1 others(2): Show |
a0001a0002 | a0001c0003a0001c0006a0001c0021others(2): Show | a0001c0003t0001a0001c0006t0001a0001c0021t0029others(2): Show | a0001c0003t0001g0119a0001c0006t0001g0171a0001c0021t0029g0093others(2): Show | 5 | 182 | 0.0275 | -34 | c.556 others(53): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
HELLS_chr10_94540788_94607099 | 94580130 | TATATATA others(27): Show |
T | intron_variant | MODIFIER | HG01099.hp1 HG01256.hp2 HG01516.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0015a0001c0002t0001g0333a0001c0002t0001g0334others(2): Show | 6 | 358 | 0.0168 | -34 | c.103 others(53): Show |
HELLS | ENSG00000119969.16 | transcript | ENST00000348459.10 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
HELZ_chr17_67065444_67250196 | 67125286 | CTATATAT others(27): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02572.hp1 HG02622.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(2): Show | a0001c0001t0001g0173a0001c0001t0006g0245a0001c0001t0007g0164others(4): Show | 7 | 274 | 0.0256 | -34 | c.338 others(53): Show |
HELZ | ENSG00000198265.12 | transcript | ENST00000358691.10 | protein_coding | 24/32 | chr17 | TogoVar | ||||||
HEPHL1_chr11_94016354_94119208 | 94060092 | TTATATAT others(27): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG01069.hp1 HG01074.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0056a0001c0001t0001g0062a0001c0001t0001g0288others(4): Show | 7 | 368 | 0.0190 | -34 | c.416 others(51): Show |
HEPHL1 | ENSG00000181333.12 | transcript | ENST00000315765.10 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
HEPHL1_chr11_94016354_94119208 | 94115572 | CATATATA others(27): Show |
C | downstream_gene_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 368 | 0.0027 | -34 | c.*36 others(45): Show |
HEPHL1 | ENSG00000181333.12 | transcript | ENST00000315765.10 | protein_coding | 1365 | chr11 | TogoVar | ||||||
HERC1_chr15_63603618_63838948 | 63744134 | GTGTGTGT others(27): Show |
G | intron_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 216 | 0.0046 | -34 | c.252 others(53): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 12/77 | chr15 | TogoVar | ||||||
HERC1_chr15_63603618_63838948 | 63744136 | GTGTGTGT others(27): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(54): Show |
a0001a0006a0011others(2): Show | a0001c0001a0001c0006a0001c0011others(9): Show | a0001c0001t0001a0001c0001t0004a0001c0006t0001others(10): Show | a0001c0001t0001g0105a0001c0001t0001g0106a0001c0001t0001g0111others(53): Show | 57 | 216 | 0.2639 | -34 | c.252 others(53): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 12/77 | chr15 | TogoVar | ||||||
HERC1_chr15_63603618_63838948 | 63744138 | GTGTGTGT others(27): Show |
G | intron_variant | MODIFIER | HG02109.hp1 HG02280.hp2 HG02572.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0001g0193others(2): Show | 5 | 216 | 0.0232 | -34 | c.252 others(53): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 12/77 | chr15 | TogoVar | ||||||
HERPUD2_chr7_35627659_35700135 | 35682292 | TGTGTGTG others(27): Show |
T | intron_variant | MODIFIER | HG02970.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0287 | 1 | 392 | 0.0026 | -34 | c.148 others(51): Show |
HERPUD2 | ENSG00000122557.11 | transcript | ENST00000311350.8 | protein_coding | 2/8 | chr7 | TogoVar | ||||||
HESX1_chr3_57192838_57204978 | 57199736 | ATTGAAAC others(27): Show |
A | splice_donor_variant others(3): Show |
HIGH | HG01346.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0015 | 1 | 336 | 0.0030 | -34 | c.149 others(44): Show |
p.Ser others(17): Show |
HESX1 | ENSG00000163666.10 | transcript | ENST00000295934.8 | protein_coding | 1/4 | 149/558 | 50/185 | chr3 | TogoVar | |||
HGD_chr3_120623172_120687239 | 120684323 | TTAAAATT others(27): Show |
T | upstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0245 | 1 | 374 | 0.0027 | -34 | c.-22 others(45): Show |
HGD | ENSG00000113924.12 | transcript | ENST00000283871.10 | protein_coding | 2085 | chr3 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210428286 | CTATATAT others(27): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG01891.hp1 HG02145.hp1 others(12): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0189a0001c0001t0001g0195a0001c0001t0002g0125others(12): Show | 15 | 268 | 0.0560 | -34 | c.856 others(52): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HHAT_chr1_210323902_210681290 | 210466015 | TGAATTGC others(27): Show |
T | intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0188 | 1 | 268 | 0.0037 | -34 | c.100 others(53): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HHAT_chr1_210323902_210681290 | 210466078 | TGCAAGGA others(27): Show |
T | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 | 1 | 268 | 0.0037 | -34 | c.100 others(53): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HHIPL1_chr14_99640129_99685569 | 99656837 | AAGGAAGG others(27): Show |
A | intron_variant | MODIFIER | HG00099.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0269 | 1 | 374 | 0.0027 | -34 | c.903 others(49): Show |
HHIPL1 | ENSG00000182218.10 | transcript | ENST00000330710.10 | protein_coding | 2/8 | chr14 | TogoVar | ||||||
HHIP_chr4_144641156_144750271 | 144696029 | TACTTGAG others(27): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG02109.hp2 HG02723.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0019 | a0001c0001t0004g0114a0001c0001t0019g0161a0001c0001t0019g0162 | 3 | 316 | 0.0095 | -34 | c.832 others(53): Show |
HHIP | ENSG00000164161.10 | transcript | ENST00000296575.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
HIBADH_chr7_27520442_27667883 | 27613156 | AATATATA others(27): Show |
A | intron_variant | MODIFIER | HG02258.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0010 | 2 | 326 | 0.0061 | -34 | c.484 others(53): Show |
HIBADH | ENSG00000106049.9 | transcript | ENST00000265395.7 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
HIBCH_chr2_190198920_190324826 | 190314325 | ATATGTAT others(27): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02622.hp2 |
a0003 | a0003c0003 | a0003c0003t0005a0003c0003t0017 | a0003c0003t0005g0204a0003c0003t0017g0205 | 2 | 368 | 0.0054 | -34 | c.36- others(49): Show |
HIBCH | ENSG00000198130.16 | transcript | ENST00000359678.10 | protein_coding | 1/13 | chr2 | TogoVar | ||||||
HIC2_chr22_21412371_21456463 | 21456376 | CCCAGCGA others(27): Show |
C | downstream_gene_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0044 | 1 | 288 | 0.0035 | -34 | c.*96 others(45): Show |
HIC2 | ENSG00000169635.10 | transcript | ENST00000407464.7 | protein_coding | 4914 | chr22 | TogoVar | ||||||
HIKESHI_chr11_86297240_86350943 | 86308263 | AAATGTGT others(27): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060a0001c0001t0001g0078 | 2 | 398 | 0.0050 | -34 | c.268 others(51): Show |
HIKESHI | ENSG00000149196.17 | transcript | ENST00000278483.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
HINT3_chr6_125951770_125985244 | 125962161 | CACATATA others(27): Show |
C | intron_variant | MODIFIER | HG02965.hp2 HG03130.hp1 NA18522.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0005 | 3 | 268 | 0.0112 | -34 | c.202 others(51): Show |
HINT3 | ENSG00000111911.7 | transcript | ENST00000229633.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
HIVEP3_chr1_41501365_41923922 | 41562617 | CTCTCTCT others(27): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG02145.hp2 HG02723.hp1 others(1): Show |
a0004a0022 | a0004c0007a0022c0039 | a0004c0007t0006a0022c0039t0039 | a0004c0007t0006g0036a0004c0007t0006g0050a0004c0007t0006g0051others(1): Show | 4 | 134 | 0.0299 | -34 | c.520 others(55): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 5/8 | chr1 | TogoVar | ||||||
HIVEP3_chr1_41501365_41923922 | 41824768 | TATATATA others(27): Show |
T | intron_variant | MODIFIER | HG02647.hp1 HG03195.hp2 HG03579.hp1 others(1): Show |
a0001a0003a0010 | a0001c0001a0003c0038a0010c0014 | a0001c0001t0005a0001c0001t0060a0003c0038t0059others(1): Show | a0001c0001t0005g0055a0001c0001t0060g0054a0003c0038t0059g0080others(1): Show | 4 | 134 | 0.0299 | -34 | c.-80 others(55): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
HIVEP3_chr1_41501365_41923922 | 41824770 | TATATATA others(27): Show |
T | intron_variant | MODIFIER | HG03130.hp1 | a0015 | a0015c0013 | a0015c0013t0005 | a0015c0013t0005g0002 | 1 | 134 | 0.0075 | -34 | c.-80 others(55): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 1/8 | chr1 | TogoVar |