| 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 | 196286387 | C | CATATATA others(25): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG01261.hp2 others(6): Show |
a0001 | a0001c0001a0001c0004a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0004t0002others(3): Show | a0001c0001t0001g0024a0001c0001t0001g0072a0001c0001t0001g0089others(6): Show | 9 | 112 | 0.0804 | 32 | c.300 others(51): Show |
HECW2 | ENSG00000138411.13 | transcript | ENST00000644978.2 | protein_coding | 14/28 | chr2 | TogoVar | ||||||
| HEG1_chr3_124960710_125060997 | 124987952 | C | CACACACA others(25): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0002 | a0001c0002t0106 | a0001c0002t0106g0094 | 1 | 362 | 0.0028 | 32 | c.373 others(51): Show |
HEG1 | ENSG00000173706.15 | transcript | ENST00000311127.9 | protein_coding | 14/16 | chr3 | TogoVar | ||||||
| HEG1_chr3_124960710_125060997 | 124987952 | C | CACACACA others(25): Show |
intron_variant | MODIFIER | NA18942.hp2 NA18995.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0074a0001c0002t0001g0079 | 2 | 362 | 0.0055 | 32 | c.373 others(51): Show |
HEG1 | ENSG00000173706.15 | transcript | ENST00000311127.9 | protein_coding | 14/16 | chr3 | TogoVar | ||||||
| HEG1_chr3_124960710_125060997 | 124987952 | C | CACACACA others(25): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0004 | a0004c0035 | a0004c0035t0001 | a0004c0035t0001g0154 | 1 | 362 | 0.0028 | 32 | c.373 others(51): Show |
HEG1 | ENSG00000173706.15 | transcript | ENST00000311127.9 | protein_coding | 14/16 | chr3 | TogoVar | ||||||
| HELB_chr12_66297493_66343199 | 66327066 | A | AAAATATA others(25): Show |
intron_variant | MODIFIER | NA19004.hp1 NA19058.hp2 |
a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0198a0002c0001t0002g0201 | 2 | 390 | 0.0051 | 32 | c.267 others(51): Show |
HELB | ENSG00000127311.10 | transcript | ENST00000247815.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| HELB_chr12_66297493_66343199 | 66327066 | A | AATATATA others(25): Show |
intron_variant | MODIFIER | NA19083.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0052 | 1 | 390 | 0.0026 | 32 | c.267 others(51): Show |
HELB | ENSG00000127311.10 | transcript | ENST00000247815.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| HELZ_chr17_67065444_67250196 | 67089668 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG01070.hp2 HG03471.hp2 |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0047 | a0002c0002t0003g0051a0002c0002t0047g0082 | 2 | 274 | 0.0073 | 32 | c.524 others(51): Show |
HELZ | ENSG00000198265.12 | transcript | ENST00000358691.10 | protein_coding | 31/32 | chr17 | TogoVar | ||||||
| HELZ_chr17_67065444_67250196 | 67089668 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG01106.hp1 HG04204.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003 | a0001c0001t0001g0213a0002c0002t0003g0066 | 2 | 274 | 0.0073 | 32 | c.524 others(51): Show |
HELZ | ENSG00000198265.12 | transcript | ENST00000358691.10 | protein_coding | 31/32 | chr17 | TogoVar | ||||||
| HELZ_chr17_67065444_67250196 | 67089668 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG02886.hp2 HG03710.hp1 |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0005 | a0002c0002t0003g0064a0002c0002t0005g0016 | 2 | 274 | 0.0073 | 32 | c.524 others(51): Show |
HELZ | ENSG00000198265.12 | transcript | ENST00000358691.10 | protein_coding | 31/32 | chr17 | TogoVar | ||||||
| HELZ_chr17_67065444_67250196 | 67089668 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 274 | 0.0037 | 32 | c.524 others(51): Show |
HELZ | ENSG00000198265.12 | transcript | ENST00000358691.10 | protein_coding | 31/32 | chr17 | TogoVar | ||||||
| HELZ_chr17_67065444_67250196 | 67126753 | T | TGGGAGGC others(25): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01070.hp1 HG01071.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0171a0001c0001t0008g0188a0001c0001t0008g0210others(2): Show | 5 | 274 | 0.0183 | 32 | c.338 others(51): Show |
HELZ | ENSG00000198265.12 | transcript | ENST00000358691.10 | protein_coding | 24/32 | chr17 | TogoVar | ||||||
| HELZ_chr17_67065444_67250196 | 67209033 | A | AAGGGAGA others(25): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0259 | 1 | 274 | 0.0037 | 32 | c.248 others(49): Show |
HELZ | ENSG00000198265.12 | transcript | ENST00000358691.10 | protein_coding | 5/32 | chr17 | TogoVar | ||||||
| HERC4_chr10_67916905_68080283 | 68059873 | A | AATAATAT others(25): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0226 | 1 | 360 | 0.0028 | 32 | c.226 others(51): Show |
HERC4 | ENSG00000148634.16 | transcript | ENST00000373700.9 | protein_coding | 3/24 | chr10 | TogoVar | ||||||
| HERC6_chr4_88373852_88448097 | 88379848 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0007 | a0007c0011 | a0007c0011t0001 | a0007c0011t0001g0094 | 1 | 174 | 0.0058 | 32 | c.199 others(47): Show |
HERC6 | ENSG00000138642.16 | transcript | ENST00000264346.12 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| HERC6_chr4_88373852_88448097 | 88379884 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0009 | a0009c0009 | a0009c0009t0001 | a0009c0009t0001g0010 | 1 | 174 | 0.0058 | 32 | c.199 others(47): Show |
HERC6 | ENSG00000138642.16 | transcript | ENST00000264346.12 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| HERPUD2_chr7_35627659_35700135 | 35682332 | T | TGTGTGTA others(25): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0273 | 1 | 392 | 0.0026 | 32 | c.148 others(49): Show |
HERPUD2 | ENSG00000122557.11 | transcript | ENST00000311350.8 | protein_coding | 2/8 | chr7 | TogoVar | ||||||
| HEXD_chr17_82413347_82447645 | 82433091 | A | AAAAAAAA others(25): Show |
intron_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 | 1 | 400 | 0.0025 | 32 | c.283 others(47): Show |
HEXD | ENSG00000169660.17 | transcript | ENST00000327949.15 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| HEY1_chr8_79759010_79772767 | 79769371 | A | ATCTTTTT others(25): Show |
upstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0013 | 1 | 460 | 0.0022 | 32 | c.-17 others(43): Show |
HEY1 | ENSG00000164683.19 | transcript | ENST00000354724.8 | protein_coding | 1605 | chr8 | TogoVar | ||||||
| HFM1_chr1_91255766_91409837 | 91264361 | A | ATTTTTTT others(25): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0005 | a0005c0011 | a0005c0011t0001 | a0005c0011t0001g0151 | 1 | 362 | 0.0028 | 32 | c.397 others(51): Show |
HFM1 | ENSG00000162669.16 | transcript | ENST00000370425.8 | protein_coding | 36/38 | chr1 | TogoVar | ||||||
| HFM1_chr1_91255766_91409837 | 91408663 | C | CTTCTTTC others(25): Show |
upstream_gene_variant | MODIFIER | HG01361.hp1 HG01978.hp1 NA19084.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0262a0001c0001t0001g0271a0001c0001t0001g0278 | 3 | 362 | 0.0083 | 32 | c.-38 others(43): Show |
HFM1 | ENSG00000162669.16 | transcript | ENST00000370425.8 | protein_coding | 3827 | chr1 | TogoVar | ||||||
| HGD_chr3_120623172_120687239 | 120624712 | G | GGAGAGAG others(25): Show |
downstream_gene_variant | MODIFIER | HG02559.hp1 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0321 | 1 | 374 | 0.0027 | 32 | c.*36 others(43): Show |
HGD | ENSG00000113924.12 | transcript | ENST00000283871.10 | protein_coding | 3459 | chr3 | TogoVar | ||||||
| HGF_chr7_81694010_81775047 | 81697198 | T | TTATATAT others(25): Show |
downstream_gene_variant | MODIFIER | HG02922.hp2 HG03139.hp2 HG04199.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0001a0001c0001t0005g0135a0001c0001t0005g0140 | 3 | 272 | 0.0110 | 32 | c.*53 others(43): Show |
HGF | ENSG00000019991.18 | transcript | ENST00000222390.11 | protein_coding | 1811 | chr7 | TogoVar | ||||||
| HGF_chr7_81694010_81775047 | 81697231 | T | TATATATA others(25): Show |
downstream_gene_variant | MODIFIER | HG01433.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0138a0001c0001t0008g0066 | 2 | 272 | 0.0074 | 32 | c.*53 others(43): Show |
HGF | ENSG00000019991.18 | transcript | ENST00000222390.11 | protein_coding | 1778 | chr7 | TogoVar | ||||||
| HHAT_chr1_210323902_210681290 | 210326958 | T | TATATATA others(25): Show |
upstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 268 | 0.0037 | 32 | c.-21 others(43): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 1943 | chr1 | TogoVar | ||||||
| HHAT_chr1_210323902_210681290 | 210326958 | T | TATATATA others(25): Show |
upstream_gene_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0171 | 1 | 268 | 0.0037 | 32 | c.-21 others(43): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 1943 | chr1 | TogoVar | ||||||
| HHAT_chr1_210323902_210681290 | 210336287 | A | ATTTTTTT others(25): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0144a0001c0001t0009g0143 | 2 | 268 | 0.0075 | 32 | c.-44 others(49): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| HHAT_chr1_210323902_210681290 | 210526367 | G | GTTTTGTT others(25): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0266 | 1 | 268 | 0.0037 | 32 | c.104 others(53): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| HHAT_chr1_210323902_210681290 | 210601937 | C | CAGAGAGA others(25): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01258.hp1 HG02148.hp2 |
a0002 | a0002c0003 | a0002c0003t0002a0002c0003t0004 | a0002c0003t0002g0261a0002c0003t0004g0242a0002c0003t0004g0243 | 3 | 268 | 0.0112 | 32 | c.124 others(53): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| HHIPL1_chr14_99640129_99685569 | 99673582 | G | GATGGCAC others(25): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0002 | a0002c0016 | a0002c0016t0039 | a0002c0016t0039g0116 | 1 | 374 | 0.0027 | 32 | c.181 others(51): Show |
HHIPL1 | ENSG00000182218.10 | transcript | ENST00000330710.10 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| HHIPL1_chr14_99640129_99685569 | 99673657 | G | GGGGTGCA others(25): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG01099.hp2 others(5): Show |
a0001a0002 | a0001c0002a0001c0007a0002c0001others(1): Show | a0001c0002t0002a0001c0002t0003a0001c0007t0004others(3): Show | a0001c0002t0002g0016a0001c0002t0002g0120a0001c0002t0003g0200others(5): Show | 8 | 374 | 0.0214 | 32 | c.181 others(51): 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(25): Show |
intron_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0318 | 1 | 374 | 0.0027 | 32 | c.181 others(51): Show |
HHIPL1 | ENSG00000182218.10 | transcript | ENST00000330710.10 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| HHIPL1_chr14_99640129_99685569 | 99673682 | A | AGGGGGTG others(25): Show |
intron_variant | MODIFIER | HG03927.hp2 NA19086.hp2 |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0002a0002c0001t0001 | a0001c0003t0002g0342a0002c0001t0001g0104 | 2 | 374 | 0.0054 | 32 | c.181 others(51): Show |
HHIPL1 | ENSG00000182218.10 | transcript | ENST00000330710.10 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| HHIPL1_chr14_99640129_99685569 | 99673698 | A | AGGGGGTT others(25): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0126 | 1 | 374 | 0.0027 | 32 | c.181 others(51): Show |
HHIPL1 | ENSG00000182218.10 | transcript | ENST00000330710.10 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| HIC2_chr22_21412371_21456463 | 21443698 | G | GGACACTG others(25): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0139 | 1 | 288 | 0.0035 | 32 | c.26+ others(45): Show |
HIC2 | ENSG00000169635.10 | transcript | ENST00000407464.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| HIF1A_chr14_61690513_61753258 | 61724349 | T | TTCTCTCT others(25): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0073 | 1 | 322 | 0.0031 | 32 | c.458 others(49): Show |
HIF1A | ENSG00000100644.17 | transcript | ENST00000337138.9 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| HIF3A_chr19_46292042_46348433 | 46292084 | C | CTCCATCC others(25): Show |
upstream_gene_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0192 | 1 | 418 | 0.0024 | 32 | c.-49 others(43): Show |
HIF3A | ENSG00000124440.16 | transcript | ENST00000377670.9 | protein_coding | 4957 | chr19 | TogoVar | ||||||
| HIKESHI_chr11_86297240_86350943 | 86307481 | T | TATATATT others(25): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00741.hp2 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0014a0001c0001t0003g0056a0001c0001t0003g0057others(28): Show | 32 | 398 | 0.0804 | 32 | c.268 others(49): Show |
HIKESHI | ENSG00000149196.17 | transcript | ENST00000278483.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| HINFP_chr11_119116580_119141059 | 119129490 | C | CTTTTTTT others(25): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG01257.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0048a0001c0001t0003g0168a0001c0001t0003g0176others(3): Show | 7 | 404 | 0.0173 | 32 | c.182 others(49): Show |
HINFP | ENSG00000172273.13 | transcript | ENST00000350777.7 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| HIPK1_chr1_113924324_113982869 | 113978490 | T | TATAAGTT others(25): Show |
downstream_gene_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0003 | a0001c0003t0022 | a0001c0003t0022g0305 | 1 | 382 | 0.0026 | 32 | c.*49 others(43): Show |
HIPK1 | ENSG00000163349.22 | transcript | ENST00000426820.7 | protein_coding | 622 | chr1 | TogoVar | ||||||
| HIPK3_chr11_33252381_33362023 | 33301821 | G | GACACACA others(25): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 342 | 0.0029 | 32 | c.109 others(53): Show |
HIPK3 | ENSG00000110422.12 | transcript | ENST00000303296.9 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| HIPK3_chr11_33252381_33362023 | 33310281 | T | TATCTTAT others(25): Show |
intron_variant | MODIFIER | HG03654.hp1 NA18979.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026a0001c0001t0001g0166 | 2 | 342 | 0.0059 | 32 | c.109 others(53): Show |
HIPK3 | ENSG00000110422.12 | transcript | ENST00000303296.9 | protein_coding | 2/16 | chr11 | TogoVar | ||||||
| HIPK3_chr11_33252381_33362023 | 33310281 | T | TTATCTAT others(25): Show |
intron_variant | MODIFIER | HG01943.hp1 HG02015.hp1 NA18966.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176a0001c0001t0001g0183a0001c0001t0001g0188 | 3 | 342 | 0.0088 | 32 | c.109 others(53): Show |
HIPK3 | ENSG00000110422.12 | transcript | ENST00000303296.9 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| HIVEP2_chr6_142746469_142950176 | 142796240 | C | CAGTATAA others(25): Show |
intron_variant | MODIFIER | NA18984.hp2 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242a0001c0001t0001g0243 | 2 | 288 | 0.0069 | 32 | c.-52 others(53): Show |
HIVEP2 | ENSG00000010818.11 | transcript | ENST00000367603.8 | protein_coding | 2/9 | chr6 | TogoVar | ||||||
| HIVEP3_chr1_41501365_41923922 | 41561739 | T | TCCTGCCA others(25): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(81): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0003a0001c0004others(25): Show | a0001c0001t0068a0001c0001t0078a0001c0003t0002others(68): Show | a0001c0001t0068g0124a0001c0001t0078g0004a0001c0003t0002g0009others(81): Show | 84 | 134 | 0.6269 | 32 | c.520 others(53): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 5/8 | chr1 | TogoVar | ||||||
| HK1_chr10_69273496_69406882 | 69332357 | T | TTTTCTTT others(25): Show |
intron_variant | MODIFIER | HG03491.hp1 HG03492.hp2 NA18948.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0273a0001c0001t0001g0274a0001c0002t0001g0215others(1): Show | 4 | 280 | 0.0143 | 32 | c.76- others(49): Show |
HK1 | ENSG00000156515.25 | transcript | ENST00000643399.2 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| HK1_chr10_69313847_69406882 | 69332357 | T | TTTTCTTT others(25): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03492.hp1 NA18984.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0002t0001g0253 | 3 | 296 | 0.0101 | 32 | c.64- others(49): Show |
HK1 | ENSG00000156515.25 | transcript | ENST00000359426.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| HK2_chr2_74829127_74898359 | 74882605 | T | TTATATAT others(25): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00673.hp1 HG01169.hp1 others(14): Show |
a0001a0003 | a0001c0001a0001c0006a0001c0034others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(6): Show | a0001c0001t0002g0074a0001c0001t0002g0140a0001c0001t0002g0229others(14): Show | 17 | 394 | 0.0432 | 32 | c.183 others(49): Show |
HK2 | ENSG00000159399.10 | transcript | ENST00000290573.7 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| HLA-A_chr6_29937532_29950870 | 29949602 | C | CATGCATG others(25): Show |
downstream_gene_variant | MODIFIER | HG02559.hp1 NA20300.hp1 |
a0026 | a0026c0026 | a0026c0026t0005 | a0026c0026t0005g0005 | 2 | 418 | 0.0048 | 32 | c.*41 others(43): Show |
HLA-A | ENSG00000206503.14 | transcript | ENST00000376809.10 | protein_coding | 3733 | chr6 | TogoVar | ||||||
| HLA-A_chr6_29937532_29950870 | 29949602 | C | CATGCATG others(25): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 HG01243.hp2 HG01361.hp1 others(21): Show |
a0009a0020a0021others(1): Show | a0009c0009a0020c0020a0021c0021others(1): Show | a0009c0009t0005a0020c0020t0005a0021c0021t0010others(1): Show | a0009c0009t0005g0005a0009c0009t0005g0025a0020c0020t0005g0005others(2): Show | 24 | 418 | 0.0574 | 32 | c.*41 others(43): Show |
HLA-A | ENSG00000206503.14 | transcript | ENST00000376809.10 | protein_coding | 3733 | chr6 | TogoVar | ||||||
| HLA-A_chr6_29937532_29950870 | 29949602 | C | CATGTATG others(25): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 HG01081.hp2 NA18942.hp2 |
a0001a0031 | a0001c0001a0031c0030 | a0001c0001t0002a0031c0030t0002 | a0001c0001t0002g0002a0031c0030t0002g0002 | 3 | 418 | 0.0072 | 32 | c.*41 others(43): Show |
HLA-A | ENSG00000206503.14 | transcript | ENST00000376809.10 | protein_coding | 3733 | chr6 | TogoVar |