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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HHAT_chr1_210323902_210681290 | 210496010 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01175.hp1 HG01433.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0093a0001c0001t0001g0156a0001c0001t0001g0173others(11): Show | 14 | 268 | 0.0522 | 8 | c.100 others(29): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HHAT_chr1_210323902_210681290 | 210601937 | C | CAGAGAGA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00438.hp1 others(73): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0015others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0025a0001c0001t0001g0082a0001c0001t0001g0093others(73): Show | 76 | 268 | 0.2836 | 8 | c.124 others(29): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HHAT_chr1_210323902_210681290 | 210601970 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01884.hp1 HG02809.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0130a0001c0001t0002g0008a0001c0001t0002g0075others(5): Show | 8 | 268 | 0.0299 | 8 | c.124 others(29): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HHAT_chr1_210323902_210681290 | 210653130 | T | TATACATA others(1): Show |
intron_variant | MODIFIER | HG02818.hp2 HG03516.hp2 HG03704.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0083a0001c0001t0003g0159a0001c0001t0003g0172 | 3 | 268 | 0.0112 | 8 | c.139 others(29): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HHIPL1_chr14_99640129_99685569 | 99661421 | A | AGAAGGAA others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 NA18944.hp1 NA18957.hp2 others(6): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0007others(1): Show | a0001c0002t0003a0001c0003t0002a0001c0007t0004others(1): Show | a0001c0002t0003g0033a0001c0003t0002g0319a0001c0007t0004g0289others(6): Show | 9 | 374 | 0.0241 | 8 | c.150 others(27): Show |
HHIPL1 | ENSG00000182218.10 | transcript | ENST00000330710.10 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
HHIPL2_chr1_222517264_222553104 | 222534577 | T | TAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02132.hp1 HG02135.hp2 others(12): Show |
a0001a0004 | a0001c0003a0004c0006 | a0001c0003t0001a0004c0006t0001 | a0001c0003t0001g0194a0001c0003t0001g0197a0001c0003t0001g0222others(8): Show | 15 | 418 | 0.0359 | 8 | c.157 others(27): Show |
HHIPL2 | ENSG00000143512.13 | transcript | ENST00000343410.7 | protein_coding | 5/8 | chr1 | TogoVar | ||||||
HHIPL2_chr1_222517264_222553104 | 222534669 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01261.hp1 HG03579.hp2 NA21309.hp2 |
a0002 | a0002c0004a0002c0005 | a0002c0004t0001a0002c0005t0001 | a0002c0004t0001g0183a0002c0005t0001g0285a0002c0005t0001g0292 | 3 | 418 | 0.0072 | 8 | c.157 others(27): Show |
HHIPL2 | ENSG00000143512.13 | transcript | ENST00000343410.7 | protein_coding | 5/8 | chr1 | TogoVar | ||||||
HHIPL2_chr1_222517264_222553104 | 222538195 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02004.hp2 HG02717.hp1 HG02818.hp2 others(6): Show |
a0001a0005 | a0001c0001a0001c0003a0005c0008 | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(1): Show | a0001c0001t0001g0070a0001c0001t0001g0072a0001c0001t0001g0115others(6): Show | 9 | 418 | 0.0215 | 8 | c.157 others(25): Show |
HHIPL2 | ENSG00000143512.13 | transcript | ENST00000343410.7 | protein_coding | 5/8 | chr1 | TogoVar | ||||||
HHIPL2_chr1_222517264_222553104 | 222550921 | C | CATAGATA others(1): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00621.hp1 others(110): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0002c0004others(12): Show | a0001c0001t0001a0001c0003t0001a0002c0004t0001others(12): Show | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0022others(96): Show | 113 | 418 | 0.2703 | 8 | c.-28 others(19): Show |
HHIPL2 | ENSG00000143512.13 | transcript | ENST00000343410.7 | protein_coding | 2818 | chr1 | TogoVar | ||||||
HHIP_chr4_144641156_144750271 | 144645107 | G | GGTGTGTG others(1): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 HG01192.hp2 HG02004.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0012 | a0001c0001t0001g0289a0001c0001t0001g0290a0001c0001t0003g0200others(4): Show | 7 | 316 | 0.0222 | 8 | c.-15 others(19): Show |
HHIP | ENSG00000164161.10 | transcript | ENST00000296575.8 | protein_coding | 1048 | chr4 | TogoVar | ||||||
HHIP_chr4_144641156_144750271 | 144658351 | G | GTATTTAT others(1): Show |
intron_variant | MODIFIER | HG03516.hp2 NA18952.hp2 NA18986.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(1): Show | a0001c0001t0001g0233a0001c0001t0001g0235a0001c0001t0003g0163others(2): Show | 5 | 316 | 0.0158 | 8 | c.473 others(23): Show |
HHIP | ENSG00000164161.10 | transcript | ENST00000296575.8 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
HHLA1_chr8_132056480_132116157 | 132107835 | T | TTTGGAGA others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00558.hp2 others(193): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0007others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(44): Show | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0016others(184): Show | 196 | 380 | 0.5158 | 8 | c.-21 others(25): Show |
HHLA1 | ENSG00000132297.13 | transcript | ENST00000414222.2 | protein_coding | 1/16 | chr8 | TogoVar | ||||||
HIBADH_chr7_27520442_27667883 | 27527917 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00621.hp2 HG00733.hp1 others(42): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0021others(42): Show | 45 | 326 | 0.1380 | 8 | c.853 others(25): Show |
HIBADH | ENSG00000106049.9 | transcript | ENST00000265395.7 | protein_coding | 7/7 | chr7 | TogoVar | ||||||
HIBADH_chr7_27520442_27667883 | 27635086 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01361.hp1 HG01891.hp1 others(25): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0011a0001c0001t0001g0012others(25): Show | 28 | 326 | 0.0859 | 8 | c.253 others(25): Show |
HIBADH | ENSG00000106049.9 | transcript | ENST00000265395.7 | protein_coding | 2/7 | chr7 | TogoVar | ||||||
HIBADH_chr7_27520442_27667883 | 27645368 | A | ATGTTTTT others(1): Show |
intron_variant | MODIFIER | HG01358.hp2 HG01978.hp2 HG02074.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0027a0001c0001t0001g0028a0001c0001t0001g0029others(16): Show | 19 | 326 | 0.0583 | 8 | c.252 others(25): Show |
HIBADH | ENSG00000106049.9 | transcript | ENST00000265395.7 | protein_coding | 2/7 | chr7 | TogoVar | ||||||
HIBCH_chr2_190198920_190324826 | 190259319 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00438.hp2 others(35): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(9): Show | a0001c0001t0001g0084a0001c0001t0001g0085a0001c0001t0004g0339others(35): Show | 38 | 368 | 0.1033 | 8 | c.517 others(25): Show |
HIBCH | ENSG00000198130.16 | transcript | ENST00000359678.10 | protein_coding | 7/13 | chr2 | TogoVar | ||||||
HIBCH_chr2_190198920_190324826 | 190287027 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00438.hp2 others(69): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0007a0002c0002t0002others(3): Show | a0001c0001t0001g0086a0001c0001t0001g0099a0001c0001t0001g0101others(67): Show | 72 | 368 | 0.1957 | 8 | c.438 others(23): Show |
HIBCH | ENSG00000198130.16 | transcript | ENST00000359678.10 | protein_coding | 6/13 | chr2 | TogoVar | ||||||
HIBCH_chr2_190198920_190324826 | 190287058 | G | GTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02886.hp2 HG03453.hp1 NA18522.hp1 |
a0002a0003 | a0002c0002a0002c0007a0003c0003 | a0002c0002t0008a0002c0007t0006a0003c0003t0005 | a0002c0002t0008g0243a0002c0007t0006g0242a0003c0003t0005g0183 | 3 | 368 | 0.0082 | 8 | c.438 others(23): Show |
HIBCH | ENSG00000198130.16 | transcript | ENST00000359678.10 | protein_coding | 6/13 | chr2 | TogoVar | ||||||
HIBCH_chr2_190198920_190324826 | 190294020 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG01433.hp1 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0248a0002c0002t0002g0249a0002c0002t0002g0263others(6): Show | 9 | 368 | 0.0245 | 8 | c.304 others(23): Show |
HIBCH | ENSG00000198130.16 | transcript | ENST00000359678.10 | protein_coding | 4/13 | chr2 | TogoVar | ||||||
HIBCH_chr2_190198920_190324826 | 190294022 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02280.hp1 HG03491.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0019a0001c0001t0021 | a0001c0001t0004g0332a0001c0001t0004g0333a0001c0001t0004g0334others(6): Show | 9 | 368 | 0.0245 | 8 | c.304 others(23): Show |
HIBCH | ENSG00000198130.16 | transcript | ENST00000359678.10 | protein_coding | 4/13 | chr2 | TogoVar | ||||||
HIBCH_chr2_190198920_190324826 | 190294022 | G | GTGTATAT others(1): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01099.hp2 HG01123.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0001a0001c0001t0001g0082a0001c0001t0001g0087others(20): Show | 25 | 368 | 0.0679 | 8 | c.304 others(23): Show |
HIBCH | ENSG00000198130.16 | transcript | ENST00000359678.10 | protein_coding | 4/13 | chr2 | TogoVar | ||||||
HIC1_chr17_2050103_2068241 | 2066652 | T | TACACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(42): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0001a0001c0001t0002g0002a0001c0001t0002g0007others(19): Show | 45 | 414 | 0.1087 | 8 | c.*78 others(19): Show |
HIC1 | ENSG00000177374.13 | transcript | ENST00000619757.5 | protein_coding | 3412 | chr17 | TogoVar | ||||||
HIC2_chr22_21412371_21456463 | 21425165 | T | TAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG00544.hp2 others(58): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0006 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(13): Show | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0005others(53): Show | 61 | 288 | 0.2118 | 8 | c.-74 others(25): Show |
HIC2 | ENSG00000169635.10 | transcript | ENST00000407464.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
HIF1AN_chr10_100530943_100564998 | 100563333 | C | CTGTGTGT others(1): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG01243.hp1 HG01358.hp2 others(14): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0012others(11): Show | 17 | 320 | 0.0531 | 8 | c.*15 others(21): Show |
HIF1AN | ENSG00000166135.14 | transcript | ENST00000299163.7 | protein_coding | 3336 | chr10 | TogoVar | ||||||
HIF1A_chr14_61690513_61753258 | 61694214 | C | CTCAAGGG others(1): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 HG01081.hp1 HG01516.hp2 others(14): Show |
a0001a0004a0006 | a0001c0001a0001c0006a0004c0005others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(3): Show | a0001c0001t0003g0019a0001c0001t0003g0099a0001c0001t0003g0105others(13): Show | 17 | 322 | 0.0528 | 8 | c.-15 others(19): Show |
HIF1A | ENSG00000100644.17 | transcript | ENST00000337138.9 | protein_coding | 1298 | chr14 | TogoVar | ||||||
HIF1A_chr14_61690513_61753258 | 61717855 | T | TTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00642.hp1 others(90): Show |
a0001a0002a0004 | a0001c0001a0001c0011a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0004a0001c0001t0001g0017a0001c0001t0001g0018others(76): Show | 93 | 322 | 0.2888 | 8 | c.36- others(23): Show |
HIF1A | ENSG00000100644.17 | transcript | ENST00000337138.9 | protein_coding | 1/14 | chr14 | TogoVar | ||||||
HIF1A_chr14_61690513_61753258 | 61724349 | T | TTCTCTCT others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG00735.hp2 others(15): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002a0002c0002t0012 | a0001c0001t0001g0092a0001c0001t0001g0153a0001c0001t0001g0195others(14): Show | 18 | 322 | 0.0559 | 8 | c.458 others(25): Show |
HIF1A | ENSG00000100644.17 | transcript | ENST00000337138.9 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
HIF1A_chr14_61690513_61753258 | 61746388 | A | ACTACTTT others(1): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01243.hp1 HG01358.hp1 others(24): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(1): Show | a0001c0001t0001g0004a0001c0001t0001g0017a0001c0001t0001g0018others(19): Show | 27 | 322 | 0.0839 | 8 | c.233 others(25): Show |
HIF1A | ENSG00000100644.17 | transcript | ENST00000337138.9 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
HIF3A_chr19_46292042_46348433 | 46294992 | C | CTATTTAT others(1): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG01070.hp2 HG01071.hp1 others(22): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0005others(6): Show | a0001c0001t0001g0064a0001c0001t0001g0066a0001c0005t0001g0051others(22): Show | 25 | 418 | 0.0598 | 8 | c.-20 others(19): Show |
HIF3A | ENSG00000124440.16 | transcript | ENST00000377670.9 | protein_coding | 2049 | chr19 | TogoVar | ||||||
HIF3A_chr19_46292042_46348433 | 46296148 | A | AACACACA others(1): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG01069.hp2 others(58): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(22): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0093others(58): Show | 61 | 418 | 0.1459 | 8 | c.-92 others(17): Show |
HIF3A | ENSG00000124440.16 | transcript | ENST00000377670.9 | protein_coding | 893 | chr19 | TogoVar | ||||||
HIF3A_chr19_46292042_46348433 | 46307995 | C | CAGATAGA others(1): Show |
intron_variant | MODIFIER | NA18949.hp1 NA18952.hp2 NA18955.hp1 others(9): Show |
a0002 | a0002c0004a0002c0018a0002c0019 | a0002c0004t0002a0002c0004t0004a0002c0004t0013others(5): Show | a0002c0004t0002g0201a0002c0004t0004g0174a0002c0004t0004g0175others(9): Show | 12 | 418 | 0.0287 | 8 | c.364 others(23): Show |
HIF3A | ENSG00000124440.16 | transcript | ENST00000377670.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
HIF3A_chr19_46292042_46348433 | 46307999 | C | CAGACAGA others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG02074.hp1 NA20905.hp2 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0018 | a0001c0003t0001g0203a0001c0003t0001g0211a0001c0003t0018g0204 | 3 | 418 | 0.0072 | 8 | c.364 others(23): Show |
HIF3A | ENSG00000124440.16 | transcript | ENST00000377670.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
HIF3A_chr19_46292042_46348433 | 46307999 | C | CAGATAGA others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00621.hp1 HG00621.hp2 others(6): Show |
a0001a0002 | a0001c0003a0001c0006a0002c0004 | a0001c0003t0001a0001c0006t0001a0001c0006t0041others(2): Show | a0001c0003t0001g0209a0001c0003t0001g0210a0001c0006t0001g0406others(6): Show | 9 | 418 | 0.0215 | 8 | c.364 others(23): Show |
HIF3A | ENSG00000124440.16 | transcript | ENST00000377670.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
HIF3A_chr19_46292042_46348433 | 46312712 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(140): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0006a0001c0011others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(133): Show | 143 | 418 | 0.3421 | 8 | c.102 others(23): Show |
HIF3A | ENSG00000124440.16 | transcript | ENST00000377670.9 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
HIF3A_chr19_46292042_46348433 | 46312736 | T | TGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01952.hp1 NA18949.hp2 NA19000.hp1 others(1): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0003a0001c0001t0049a0001c0006t0001 | a0001c0001t0003g0252a0001c0001t0003g0312a0001c0001t0049g0255others(1): Show | 4 | 418 | 0.0096 | 8 | c.102 others(23): Show |
HIF3A | ENSG00000124440.16 | transcript | ENST00000377670.9 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
HIF3A_chr19_46292042_46348433 | 46318614 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | NA18953.hp1 NA18957.hp2 NA18972.hp1 others(7): Show |
a0001 | a0001c0005 | a0001c0005t0001a0001c0005t0005a0001c0005t0026 | a0001c0005t0001g0068a0001c0005t0001g0070a0001c0005t0001g0071others(7): Show | 10 | 418 | 0.0239 | 8 | c.102 others(27): Show |
HIF3A | ENSG00000124440.16 | transcript | ENST00000377670.9 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
HIF3A_chr19_46292042_46348433 | 46324983 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02818.hp1 HG03579.hp1 NA18992.hp1 |
a0001a0002a0003 | a0001c0001a0002c0004a0003c0009 | a0001c0001t0027a0002c0004t0048a0003c0009t0014 | a0001c0001t0027g0369a0002c0004t0048g0182a0003c0009t0014g0351 | 3 | 418 | 0.0072 | 8 | c.133 others(25): Show |
HIF3A | ENSG00000124440.16 | transcript | ENST00000377670.9 | protein_coding | 10/14 | chr19 | TogoVar | ||||||
HIF3A_chr19_46292042_46348433 | 46324985 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02486.hp2 HG02818.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0031a0001c0001t0045a0002c0004t0024 | a0001c0001t0031g0303a0001c0001t0045g0315a0002c0004t0024g0391 | 3 | 418 | 0.0072 | 8 | c.133 others(25): Show |
HIF3A | ENSG00000124440.16 | transcript | ENST00000377670.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
HIF3A_chr19_46292042_46348433 | 46335247 | C | CATTTATT others(1): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02055.hp1 HG02109.hp1 others(6): Show |
a0001a0003 | a0001c0001a0001c0005a0001c0006others(1): Show | a0001c0001t0004a0001c0001t0008a0001c0001t0011others(5): Show | a0001c0001t0004g0025a0001c0001t0008g0158a0001c0001t0011g0088others(6): Show | 9 | 418 | 0.0215 | 8 | c.191 others(25): Show |
HIF3A | ENSG00000124440.16 | transcript | ENST00000377670.9 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
HIF3A_chr19_46292042_46348433 | 46343508 | T | TTTCCTTC others(1): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG00621.hp1 HG01070.hp2 others(39): Show |
a0001a0002a0013 | a0001c0001a0001c0003a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(16): Show | a0001c0001t0001g0256a0001c0001t0002g0191a0001c0001t0013g0005others(38): Show | 42 | 418 | 0.1005 | 8 | c.*38 others(19): Show |
HIF3A | ENSG00000124440.16 | transcript | ENST00000377670.9 | protein_coding | 76 | chr19 | TogoVar | ||||||
HIGD1A_chr3_42777908_42809490 | 42787590 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00438.hp2 others(114): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0010others(4): Show | a0001c0001t0002g0001a0001c0001t0002g0006a0001c0001t0002g0009others(55): Show | 117 | 400 | 0.2925 | 8 | c.98- others(23): Show |
HIGD1A | ENSG00000181061.14 | transcript | ENST00000321331.12 | protein_coding | 2/3 | chr3 | TogoVar | ||||||
HIGD1C_chr12_50947544_50975607 | 50948934 | A | AGGGGGAG others(1): Show |
upstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG02258.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0040a0001c0002t0001g0112a0001c0002t0001g0113 | 4 | 380 | 0.0105 | 8 | c.-38 others(19): Show |
HIGD1C | ENSG00000214511.4 | transcript | ENST00000695931.1 | protein_coding | 3609 | chr12 | TogoVar | ||||||
HIGD1C_chr12_50947544_50975607 | 50957937 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00741.hp1 others(23): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0001c0001t0003a0004c0007t0001 | a0001c0001t0001g0006a0001c0001t0001g0048a0001c0001t0001g0055others(9): Show | 26 | 380 | 0.0684 | 8 | c.95- others(23): Show |
HIGD1C | ENSG00000214511.4 | transcript | ENST00000695931.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
HIGD2B_chr15_72670798_72691182 | 72689780 | T | TTTTATTT others(1): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 HG01099.hp1 HG01358.hp2 others(22): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0013others(17): Show | 25 | 436 | 0.0573 | 8 | c.-41 others(19): Show |
HIGD2B | ENSG00000175202.6 | transcript | ENST00000311755.6 | protein_coding | 3599 | chr15 | TogoVar | ||||||
HIKESHI_chr11_86297240_86350943 | 86308559 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG01099.hp1 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0200a0001c0001t0001g0228a0001c0001t0003g0014others(29): Show | 33 | 398 | 0.0829 | 8 | c.268 others(25): Show |
HIKESHI | ENSG00000149196.17 | transcript | ENST00000278483.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
HIKESHI_chr11_86297240_86350943 | 86318303 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01243.hp2 HG02083.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0021a0001c0001t0001g0042a0001c0001t0001g0354others(11): Show | 15 | 398 | 0.0377 | 8 | c.268 others(27): Show |
HIKESHI | ENSG00000149196.17 | transcript | ENST00000278483.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
HIKESHI_chr11_86297240_86350943 | 86319240 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00558.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004a0001c0001t0002g0013a0001c0001t0002g0071others(15): Show | 20 | 398 | 0.0503 | 8 | c.268 others(27): Show |
HIKESHI | ENSG00000149196.17 | transcript | ENST00000278483.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
HIKESHI_chr11_86297240_86350943 | 86319242 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00738.hp1 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010a0001c0001t0002g0069a0001c0001t0002g0073others(27): Show | 31 | 398 | 0.0779 | 8 | c.268 others(27): Show |
HIKESHI | ENSG00000149196.17 | transcript | ENST00000278483.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
HIKESHI_chr11_86297240_86350943 | 86334236 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02602.hp1 HG02683.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011a0001c0001t0002g0013a0001c0001t0002g0129others(10): Show | 15 | 398 | 0.0377 | 8 | c.269 others(25): 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(1): Show |
intron_variant | MODIFIER | HG02647.hp2 HG03540.hp1 NA18944.hp1 others(7): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0013 | a0001c0001t0003a0002c0002t0013a0002c0002t0015others(1): Show | a0001c0001t0003g0018a0001c0001t0003g0171a0001c0001t0003g0182others(4): Show | 10 | 404 | 0.0248 | 8 | c.182 others(25): Show |
HINFP | ENSG00000172273.13 | transcript | ENST00000350777.7 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |