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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HEATR5A_chr14_31286788_31425550 | 31408947 | C | CGGGCGTA others(29): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(331): Show |
a0001a0002a0003others(23): Show | a0001c0001a0001c0015a0001c0031others(26): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(44): Show | a0001c0001t0001g0016a0001c0001t0001g0021a0001c0001t0001g0022others(331): Show | 334 | 354 | 0.9435 | 36 | c.-74 others(53): Show |
HEATR5A | ENSG00000129493.15 | transcript | ENST00000543095.7 | protein_coding | 1/35 | chr14 | TogoVar | ||||||
HEATR5A_chr14_31286788_31425550 | 31408947 | C | CGGGCGTA others(29): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0313 | 1 | 354 | 0.0028 | 36 | c.-74 others(53): Show |
HEATR5A | ENSG00000129493.15 | transcript | ENST00000543095.7 | protein_coding | 1/35 | chr14 | TogoVar | ||||||
HEATR5B_chr2_36975895_37089372 | 36984215 | A | AAAAAAAA others(29): Show |
intron_variant | MODIFIER | NA18948.hp1 NA19088.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0219a0001c0002t0001g0229 | 2 | 314 | 0.0064 | 36 | c.591 others(55): Show |
HEATR5B | ENSG00000008869.12 | transcript | ENST00000233099.6 | protein_coding | 35/35 | chr2 | TogoVar | ||||||
HEATR5B_chr2_36975895_37089372 | 37037145 | G | GAGATAGA others(29): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0011 | 1 | 314 | 0.0032 | 36 | c.321 others(53): Show |
HEATR5B | ENSG00000008869.12 | transcript | ENST00000233099.6 | protein_coding | 21/35 | chr2 | TogoVar | ||||||
HEATR5B_chr2_36975895_37089372 | 37037145 | G | GATATATA others(29): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0002 | a0002c0020 | a0002c0020t0005 | a0002c0020t0005g0012 | 1 | 314 | 0.0032 | 36 | c.321 others(53): Show |
HEATR5B | ENSG00000008869.12 | transcript | ENST00000233099.6 | protein_coding | 21/35 | chr2 | TogoVar | ||||||
HECTD1_chr14_31095117_31212793 | 31096676 | C | CATATATA others(29): Show |
downstream_gene_variant | MODIFIER | HG02486.hp2 HG03209.hp1 NA19074.hp2 |
a0001a0003 | a0001c0002a0001c0009a0003c0014 | a0001c0002t0001a0001c0009t0003a0003c0014t0001 | a0001c0002t0001g0235a0001c0009t0003g0005a0003c0014t0001g0082 | 3 | 342 | 0.0088 | 36 | c.*42 others(47): Show |
HECTD1 | ENSG00000092148.14 | transcript | ENST00000399332.6 | protein_coding | 3440 | chr14 | TogoVar | ||||||
HECTD4_chr12_112155195_112387431 | 112323947 | C | CTTCTTTC others(29): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0086 | 1 | 270 | 0.0037 | 36 | c.178 others(53): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 1/75 | chr12 | TogoVar | ||||||
HECTD4_chr12_112155195_112387431 | 112323947 | C | CTTCTTTC others(29): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0006 | a0006c0023 | a0006c0023t0009 | a0006c0023t0009g0003 | 1 | 270 | 0.0037 | 36 | c.178 others(53): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 1/75 | chr12 | TogoVar | ||||||
HECTD4_chr12_112155195_112387431 | 112323969 | C | CCTTTCTT others(29): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 270 | 0.0037 | 36 | c.178 others(53): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 1/75 | chr12 | TogoVar | ||||||
HECTD4_chr12_112155195_112387431 | 112382327 | T | TGCCGCCG others(29): Show |
5_prime_UTR_variant | MODIFIER | NA18945.hp1 NA18965.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0019a0001c0002t0020 | a0001c0001t0019g0269a0001c0002t0020g0270 | 2 | 270 | 0.0074 | 36 | c.-20 others(45): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 1/76 | 200 | chr12 | TogoVar | |||||
HECW2_chr2_196189072_196598554 | 196278131 | A | AATATATA others(29): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0070 | 1 | 112 | 0.0089 | 36 | c.313 others(53): Show |
HECW2 | ENSG00000138411.13 | transcript | ENST00000644978.2 | protein_coding | 15/28 | chr2 | TogoVar | ||||||
HEG1_chr3_124960710_125060997 | 124987952 | C | CACACACA others(29): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0005 | a0005c0007 | a0005c0007t0060 | a0005c0007t0060g0335 | 1 | 362 | 0.0028 | 36 | c.373 others(55): Show |
HEG1 | ENSG00000173706.15 | transcript | ENST00000311127.9 | protein_coding | 14/16 | chr3 | TogoVar | ||||||
HEG1_chr3_124960710_125060997 | 124987952 | C | CACACACA others(29): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02155.hp2 NA19090.hp1 |
a0002a0005a0043 | a0002c0003a0005c0007a0043c0075 | a0002c0003t0007a0005c0007t0060a0043c0075t0076 | a0002c0003t0007g0076a0005c0007t0060g0334a0043c0075t0076g0181 | 3 | 362 | 0.0083 | 36 | c.373 others(55): Show |
HEG1 | ENSG00000173706.15 | transcript | ENST00000311127.9 | protein_coding | 14/16 | chr3 | TogoVar | ||||||
HEG1_chr3_124960710_125060997 | 124987952 | C | CACACACA others(29): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02074.hp2 HG02080.hp1 others(4): Show |
a0001a0002a0005others(1): Show | a0001c0010a0002c0003a0005c0007others(1): Show | a0001c0010t0107a0002c0003t0007a0002c0003t0015others(2): Show | a0001c0010t0107g0020a0002c0003t0007g0082a0002c0003t0007g0100others(4): Show | 7 | 362 | 0.0193 | 36 | c.373 others(55): Show |
HEG1 | ENSG00000173706.15 | transcript | ENST00000311127.9 | protein_coding | 14/16 | chr3 | TogoVar | ||||||
HEG1_chr3_124960710_125060997 | 124987952 | C | CACACACA others(29): Show |
intron_variant | MODIFIER | HG03669.hp2 NA19064.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0072 | a0001c0002t0001g0091a0001c0002t0072g0133 | 2 | 362 | 0.0055 | 36 | c.373 others(55): Show |
HEG1 | ENSG00000173706.15 | transcript | ENST00000311127.9 | protein_coding | 14/16 | chr3 | TogoVar | ||||||
HEG1_chr3_124960710_125060997 | 124987952 | C | CACACACA others(29): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0040 | a0040c0078 | a0040c0078t0015 | a0040c0078t0015g0155 | 1 | 362 | 0.0028 | 36 | c.373 others(55): Show |
HEG1 | ENSG00000173706.15 | transcript | ENST00000311127.9 | protein_coding | 14/16 | chr3 | TogoVar | ||||||
HEG1_chr3_124960710_125060997 | 124987952 | C | CACACACA others(29): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0026 | a0026c0054 | a0026c0054t0110 | a0026c0054t0110g0039 | 1 | 362 | 0.0028 | 36 | c.373 others(55): Show |
HEG1 | ENSG00000173706.15 | transcript | ENST00000311127.9 | protein_coding | 14/16 | chr3 | TogoVar | ||||||
HEG1_chr3_124960710_125060997 | 124987952 | C | CACACACA others(29): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0026 | a0026c0053 | a0026c0053t0001 | a0026c0053t0001g0033 | 1 | 362 | 0.0028 | 36 | c.373 others(55): Show |
HEG1 | ENSG00000173706.15 | transcript | ENST00000311127.9 | protein_coding | 14/16 | chr3 | TogoVar | ||||||
HELB_chr12_66297493_66343199 | 66327066 | A | AAAATATA others(29): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0005 | a0005c0006 | a0005c0006t0002 | a0005c0006t0002g0240 | 1 | 390 | 0.0026 | 36 | c.267 others(55): 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(29): Show |
intron_variant | MODIFIER | NA19054.hp1 | a0026 | a0026c0042 | a0026c0042t0002 | a0026c0042t0002g0195 | 1 | 390 | 0.0026 | 36 | c.267 others(55): Show |
HELB | ENSG00000127311.10 | transcript | ENST00000247815.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
HELT_chr4_185013490_185025953 | 185024013 | G | GTAATTGT others(29): Show |
downstream_gene_variant | MODIFIER | NA19066.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004 | 1 | 454 | 0.0022 | 36 | c.*32 others(47): Show |
HELT | ENSG00000187821.9 | transcript | ENST00000515777.6 | protein_coding | 3061 | chr4 | TogoVar | ||||||
HELZ_chr17_67065444_67250196 | 67209033 | A | AAGGGAGA others(29): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0253 | 1 | 274 | 0.0037 | 36 | c.248 others(53): Show |
HELZ | ENSG00000198265.12 | transcript | ENST00000358691.10 | protein_coding | 5/32 | chr17 | TogoVar | ||||||
HEPHL1_chr11_94016354_94119208 | 94093971 | G | GATAGATA others(29): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0324 | 1 | 368 | 0.0027 | 36 | c.243 others(53): Show |
HEPHL1 | ENSG00000181333.12 | transcript | ENST00000315765.10 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
HEPHL1_chr11_94016354_94119208 | 94115572 | C | CATATATA others(29): Show |
downstream_gene_variant | MODIFIER | NA19064.hp2 | a0006 | a0006c0010 | a0006c0010t0002 | a0006c0010t0002g0114 | 1 | 368 | 0.0027 | 36 | c.*36 others(47): Show |
HEPHL1 | ENSG00000181333.12 | transcript | ENST00000315765.10 | protein_coding | 1365 | chr11 | TogoVar | ||||||
HERC4_chr10_67916905_68080283 | 68059855 | C | CATAATAT others(29): Show |
intron_variant | MODIFIER | HG03490.hp2 NA18961.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068a0001c0001t0001g0299 | 2 | 360 | 0.0056 | 36 | c.226 others(55): Show |
HERC4 | ENSG00000148634.16 | transcript | ENST00000373700.9 | protein_coding | 3/24 | chr10 | TogoVar | ||||||
HERC6_chr4_88373852_88448097 | 88379742 | A | AATATATA others(29): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03492.hp2 HG03688.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0009a0002c0002t0001g0001 | 3 | 174 | 0.0172 | 36 | c.199 others(51): Show |
HERC6 | ENSG00000138642.16 | transcript | ENST00000264346.12 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
HERC6_chr4_88373852_88448097 | 88380060 | A | AATATATA others(29): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0044 | 1 | 174 | 0.0058 | 36 | c.199 others(52): Show |
HERC6 | ENSG00000138642.16 | transcript | ENST00000264346.12 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
HERPUD2_chr7_35627659_35700135 | 35682328 | T | TGTGTGTG others(29): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 392 | 0.0026 | 36 | c.148 others(53): Show |
HERPUD2 | ENSG00000122557.11 | transcript | ENST00000311350.8 | protein_coding | 2/8 | chr7 | TogoVar | ||||||
HES7_chr17_8115592_8129106 | 8128308 | C | CTAGATAG others(29): Show |
upstream_gene_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0008 | 1 | 446 | 0.0022 | 36 | c.-42 others(47): Show |
HES7 | ENSG00000179111.9 | transcript | ENST00000541682.7 | protein_coding | 4203 | chr17 | TogoVar | ||||||
HEY1_chr8_79759010_79772767 | 79769371 | A | ATCTTTTT others(29): Show |
upstream_gene_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 460 | 0.0022 | 36 | c.-17 others(47): Show |
HEY1 | ENSG00000164683.19 | transcript | ENST00000354724.8 | protein_coding | 1605 | chr8 | TogoVar | ||||||
HFM1_chr1_91255766_91409837 | 91408663 | C | CTTCTTTC others(29): Show |
upstream_gene_variant | MODIFIER | NA18940.hp1 NA19079.hp2 NA19085.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0259a0001c0001t0001g0295a0001c0002t0001g0035 | 3 | 362 | 0.0083 | 36 | c.-38 others(47): Show |
HFM1 | ENSG00000162669.16 | transcript | ENST00000370425.8 | protein_coding | 3827 | chr1 | TogoVar | ||||||
HGFAC_chr4_3436968_3454486 | 3440774 | G | GCCCCCAG others(29): Show |
upstream_gene_variant | MODIFIER | NA18956.hp2 | a0004 | a0004c0030 | a0004c0030t0001 | a0004c0030t0001g0039 | 1 | 454 | 0.0022 | 36 | c.-12 others(47): Show |
HGFAC | ENSG00000109758.9 | transcript | ENST00000382774.8 | protein_coding | 1193 | chr4 | TogoVar | ||||||
HGF_chr7_81694010_81775047 | 81697231 | T | TATATATA others(29): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0182 | 1 | 272 | 0.0037 | 36 | c.*53 others(47): Show |
HGF | ENSG00000019991.18 | transcript | ENST00000222390.11 | protein_coding | 1778 | chr7 | TogoVar | ||||||
HGF_chr7_81694010_81775047 | 81722854 | T | TATATATA others(29): Show |
intron_variant | MODIFIER | HG02630.hp2 NA19030.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0002t0015 | a0001c0001t0007g0106a0001c0002t0015g0094 | 2 | 272 | 0.0074 | 36 | c.116 others(55): Show |
HGF | ENSG00000019991.18 | transcript | ENST00000222390.11 | protein_coding | 9/17 | chr7 | TogoVar | ||||||
HGSNAT_chr8_43135464_43207855 | 43181082 | G | GGAGGGAG others(29): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 234 | 0.0043 | 36 | c.101 others(53): Show |
HGSNAT | ENSG00000165102.15 | transcript | ENST00000379644.9 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
HHAT_chr1_210323902_210681290 | 210526367 | G | GTTTTGTT others(29): Show |
intron_variant | MODIFIER | HG00597.hp2 NA18949.hp2 NA18973.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0005a0001c0001t0016a0001c0002t0002others(1): Show | a0001c0001t0005g0179a0001c0001t0016g0222a0001c0002t0002g0038others(1): Show | 4 | 268 | 0.0149 | 36 | c.104 others(57): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HHIPL1_chr14_99640129_99685569 | 99661421 | A | AGAAGGAA others(29): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0184 | 1 | 374 | 0.0027 | 36 | c.150 others(55): Show |
HHIPL1 | ENSG00000182218.10 | transcript | ENST00000330710.10 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
HHIPL1_chr14_99640129_99685569 | 99673402 | G | GGGACGGA others(29): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0114 | 1 | 374 | 0.0027 | 36 | c.181 others(55): Show |
HHIPL1 | ENSG00000182218.10 | transcript | ENST00000330710.10 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
HHLA1_chr8_132056480_132116157 | 132104523 | G | GTGAGTCT others(29): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 380 | 0.0026 | 36 | c.80- others(49): Show |
HHLA1 | ENSG00000132297.13 | transcript | ENST00000414222.2 | protein_coding | 2/16 | chr8 | TogoVar | ||||||
HINFP_chr11_119116580_119141059 | 119129490 | C | CTTTTTTT others(29): Show |
intron_variant | MODIFIER | HG02155.hp2 NA18960.hp2 NA19000.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0174a0001c0001t0003g0191a0001c0001t0003g0204 | 3 | 404 | 0.0074 | 36 | c.182 others(53): Show |
HINFP | ENSG00000172273.13 | transcript | ENST00000350777.7 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
HIPK3_chr11_33252381_33362023 | 33272781 | C | CACCCTTC others(29): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0209 | 1 | 342 | 0.0029 | 36 | c.-2- others(53): Show |
HIPK3 | ENSG00000110422.12 | transcript | ENST00000303296.9 | protein_coding | 1/16 | chr11 | TogoVar | ||||||
HIPK4_chr19_40374271_40395181 | 40377360 | T | TGGAGGAG others(29): Show |
downstream_gene_variant | MODIFIER | NA19083.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0081 | 1 | 382 | 0.0026 | 36 | c.*22 others(47): Show |
HIPK4 | ENSG00000160396.9 | transcript | ENST00000291823.3 | protein_coding | 1910 | chr19 | TogoVar | ||||||
HIVEP1_chr6_12007312_12169999 | 12078719 | C | CACACACA others(29): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01928.hp1 HG01952.hp1 others(2): Show |
a0002a0008 | a0002c0002a0002c0007a0008c0020 | a0002c0002t0001a0002c0002t0008a0002c0007t0001others(1): Show | a0002c0002t0001g0095a0002c0002t0001g0241a0002c0002t0008g0226others(2): Show | 5 | 344 | 0.0145 | 36 | c.41- others(53): Show |
HIVEP1 | ENSG00000095951.17 | transcript | ENST00000379388.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
HIVEP1_chr6_12007312_12169999 | 12078719 | C | CACACACA others(29): Show |
intron_variant | MODIFIER | HG01516.hp1 HG01517.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0049a0002c0002t0001g0142 | 2 | 344 | 0.0058 | 36 | c.41- others(53): Show |
HIVEP1 | ENSG00000095951.17 | transcript | ENST00000379388.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
HIVEP2_chr6_142746469_142950176 | 142793673 | T | TTCTTTTT others(29): Show |
intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233 | 1 | 288 | 0.0035 | 36 | c.-52 others(57): Show |
HIVEP2 | ENSG00000010818.11 | transcript | ENST00000367603.8 | protein_coding | 2/9 | chr6 | TogoVar | ||||||
HK1_chr10_69273496_69406882 | 69332357 | T | TTTTCTTT others(29): Show |
intron_variant | MODIFIER | HG02080.hp2 HG02273.hp2 NA18962.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0172a0001c0001t0001g0262a0001c0001t0002g0130others(1): Show | 4 | 280 | 0.0143 | 36 | c.76- others(53): 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(29): Show |
intron_variant | MODIFIER | HG02080.hp1 HG02273.hp2 NA18962.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0013a0001c0001t0001g0252a0001c0002t0001g0014 | 3 | 296 | 0.0101 | 36 | c.64- others(53): 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(29): Show |
intron_variant | MODIFIER | HG00423.hp2 HG02055.hp1 HG02622.hp1 others(9): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0012others(6): Show | a0001c0001t0002a0001c0002t0001a0001c0012t0022others(7): Show | a0001c0001t0002g0208a0001c0001t0002g0272a0001c0002t0001g0300others(9): Show | 12 | 394 | 0.0305 | 36 | c.183 others(53): 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(29): Show |
downstream_gene_variant | MODIFIER | HG02717.hp2 | a0026 | a0026c0026 | a0026c0026t0005 | a0026c0026t0005g0005 | 1 | 418 | 0.0024 | 36 | c.*41 others(47): Show |
HLA-A | ENSG00000206503.14 | transcript | ENST00000376809.10 | protein_coding | 3733 | chr6 | TogoVar | ||||||
HLA-A_chr6_29937532_29950870 | 29949602 | C | CATGCATG others(29): Show |
downstream_gene_variant | MODIFIER | HG02132.hp2 NA18965.hp2 NA18987.hp1 others(1): Show |
a0009a0025 | a0009c0009a0025c0025 | a0009c0009t0005a0025c0025t0005 | a0009c0009t0005g0005a0025c0025t0005g0005 | 4 | 418 | 0.0096 | 36 | c.*41 others(47): Show |
HLA-A | ENSG00000206503.14 | transcript | ENST00000376809.10 | protein_coding | 3733 | chr6 | TogoVar |