view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HDAC3_chr5_141615881_141641849 | 141624372 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 388 | 0.0026 | -17 | c.121 others(34): Show |
HDAC3 | ENSG00000171720.10 | transcript | ENST00000305264.8 | protein_coding | 14/14 | chr5 | TogoVar | |||||||
HDAC4_chr2_239043168_239406020 | 239047832 | GGTGGCTA others(10): Show |
G | downstream_gene_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 242 | 0.0041 | -17 | c.*52 others(28): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 335 | chr2 | TogoVar | |||||||
HDAC4_chr2_239043168_239406020 | 239268273 | GGCGGGCC others(10): Show |
G | intron_variant | MODIFIER | HG01168.hp2 NA20129.hp2 |
a0001a0004 | a0001c0031a0004c0026 | a0001c0031t0001a0004c0026t0044 | a0001c0031t0001g0064 a0004c0026t0044g0059 |
2 | 242 | 0.0083 | -17 | c.23- others(34): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 2/26 | chr2 | TogoVar | |||||||
HDAC8_chrX_72324516_72577843 | 72416408 | GTTTTTTT others(10): Show |
G | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0185 | 1 | 208 | 0.0048 | -17 | c.100 others(38): Show |
HDAC8 | ENSG00000147099.21 | transcript | ENST00000373573.9 | protein_coding | 9/10 | chrX | TogoVar | |||||||
HDC_chr15_50236947_50270726 | 50240886 | CAAAAAAA others(10): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00735.hp1 others(29): Show |
a0001a0006a0007 | a0001c0001a0001c0009a0006c0013others(1): Show | a0001c0001t0001a0001c0009t0001a0006c0013t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0014 others(15): Show |
32 | 418 | 0.0766 | -17 | c.*13 others(28): Show |
HDC | ENSG00000140287.11 | transcript | ENST00000267845.8 | protein_coding | 1060 | chr15 | TogoVar | |||||||
HDGFL3_chr15_83122753_83212823 | 83169414 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 246 | 0.0041 | -17 | c.85- others(32): Show |
HDGFL3 | ENSG00000166503.9 | transcript | ENST00000299633.7 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
HDLBP_chr2_241222291_241320672 | 241241566 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0307 | 1 | 354 | 0.0028 | -17 | c.216 others(34): Show |
HDLBP | ENSG00000115677.18 | transcript | ENST00000310931.10 | protein_coding | 17/27 | chr2 | TogoVar | |||||||
HEATR4_chr14_73473484_73563947 | 73477071 | TATATATA others(10): Show |
T | downstream_gene_variant | MODIFIER | HG00673.hp1 HG01975.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0071 a0001c0002t0002g0286 |
2 | 368 | 0.0054 | -17 | c.*15 others(28): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 1412 | chr14 | TogoVar | |||||||
HEATR4_chr14_73473484_73563947 | 73477073 | TATATATA others(10): Show |
T | downstream_gene_variant | MODIFIER | HG00558.hp1 HG01256.hp2 HG01934.hp1 others(16): Show |
a0001a0008a0023others(1): Show | a0001c0001a0001c0002a0008c0013others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0002g0163 others(16): Show |
19 | 368 | 0.0516 | -17 | c.*15 others(28): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 1410 | chr14 | TogoVar | |||||||
HEATR4_chr14_73473484_73563947 | 73477075 | TATATATA others(10): Show |
T | downstream_gene_variant | MODIFIER | HG01070.hp1 HG01168.hp1 HG01169.hp1 others(14): Show |
a0001a0015 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(6): Show | a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0003g0218 others(14): Show |
17 | 368 | 0.0462 | -17 | c.*15 others(28): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 1408 | chr14 | TogoVar | |||||||
HEATR4_chr14_73473484_73563947 | 73477077 | TATATATA others(10): Show |
T | downstream_gene_variant | MODIFIER | HG00642.hp2 HG00735.hp2 HG03491.hp1 others(4): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0004 | a0001c0002t0002g0277 a0001c0002t0002g0295 a0001c0002t0002g0302 others(4): Show |
7 | 368 | 0.0190 | -17 | c.*15 others(28): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 1406 | chr14 | TogoVar | |||||||
HEATR4_chr14_73473484_73563947 | 73477088 | ATATATAT others(10): Show |
A | downstream_gene_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0360 | 1 | 368 | 0.0027 | -17 | c.*15 others(28): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 1395 | chr14 | TogoVar | |||||||
HEATR4_chr14_73473484_73563947 | 73477090 | ATATATTT others(10): Show |
A | downstream_gene_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0241 | 1 | 368 | 0.0027 | -17 | c.*14 others(28): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 1393 | chr14 | TogoVar | |||||||
HEATR5B_chr2_36975895_37089372 | 36978085 | AAAAAAAA others(10): Show |
A | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(113): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0002a0001c0005others(9): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0006others(13): Show | a0001c0001t0002g0262 a0001c0002t0001g0014 a0001c0002t0001g0022 others(113): Show |
116 | 314 | 0.3694 | -17 | c.*33 others(28): Show |
HEATR5B | ENSG00000008869.12 | transcript | ENST00000233099.6 | protein_coding | 2809 | chr2 | TogoVar | |||||||
HEATR5B_chr2_36975895_37089372 | 37082052 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0014 | 1 | 314 | 0.0032 | -17 | c.126 others(34): Show |
HEATR5B | ENSG00000008869.12 | transcript | ENST00000233099.6 | protein_coding | 2/35 | chr2 | TogoVar | |||||||
HECTD1_chr14_31095117_31212793 | 31118898 | GAAAAAAA others(10): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp2 HG02559.hp2 others(7): Show |
a0001a0008 | a0001c0002a0001c0008a0008c0030 | a0001c0002t0001a0001c0008t0001a0008c0030t0001 | a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 others(7): Show |
10 | 342 | 0.0292 | -17 | c.539 others(34): Show |
HECTD1 | ENSG00000092148.14 | transcript | ENST00000399332.6 | protein_coding | 29/42 | chr14 | TogoVar | |||||||
HECW1_chr7_43107647_43571001 | 43221537 | GTTTTTTT others(10): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG02735.hp2 |
a0001a0002 | a0001c0001a0002c0009 | a0001c0001t0005a0002c0009t0001 | a0001c0001t0005g0163 a0002c0009t0001g0115 |
2 | 182 | 0.0110 | -17 | c.-31 others(36): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HECW1_chr7_43107647_43571001 | 43319601 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02572.hp2 HG03195.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004a0001c0006 | a0001c0001t0018a0001c0004t0003a0001c0004t0009others(1): Show | a0001c0001t0018g0074 a0001c0004t0003g0077 a0001c0004t0009g0121 others(1): Show |
4 | 182 | 0.0220 | -17 | c.353 others(34): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 4/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HECW1_chr7_43107647_43571001 | 43385202 | TCCCCTCC others(10): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00621.hp1 others(28): Show |
a0001a0003a0007 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(17): Show | a0001c0001t0001g0002 a0001c0001t0001g0064 a0001c0001t0001g0100 others(28): Show |
31 | 182 | 0.1703 | -17 | c.556 others(36): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HECW1_chr7_43107647_43571001 | 43385242 | TCCCTCTC others(10): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG00621.hp2 HG00673.hp1 others(34): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(22): Show | a0001c0001t0001g0062 a0001c0001t0001g0072 a0001c0001t0001g0078 others(34): Show |
37 | 182 | 0.2033 | -17 | c.556 others(36): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HECW2_chr2_196189072_196598554 | 196273049 | ATTTTTTT others(10): Show |
A | intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0022 | 1 | 112 | 0.0089 | -17 | c.323 others(34): Show |
HECW2 | ENSG00000138411.13 | transcript | ENST00000644978.2 | protein_coding | 16/28 | chr2 | TogoVar | |||||||
HECW2_chr2_196189072_196598554 | 196592008 | GAATAGGA others(10): Show |
G | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0023 | a0001c0023t0004 | a0001c0023t0004g0016 | 1 | 112 | 0.0089 | -17 | c.-36 others(34): Show |
HECW2 | ENSG00000138411.13 | transcript | ENST00000644978.2 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
HELT_chr4_185013490_185025953 | 185023062 | TCTCTCTC others(10): Show |
T | downstream_gene_variant | MODIFIER | HG01433.hp2 HG03491.hp1 NA18612.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0002g0003 |
7 | 454 | 0.0154 | -17 | c.*22 others(28): Show |
HELT | ENSG00000187821.9 | transcript | ENST00000515777.6 | protein_coding | 2110 | chr4 | TogoVar | |||||||
HELZ2_chr20_63553086_63579239 | 63559659 | AGGAGTCA others(10): Show |
A | intron_variant | MODIFIER | HG03654.hp2 NA18942.hp2 |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0004a0006c0007t0007 | a0001c0001t0004g0196 a0006c0007t0007g0318 |
2 | 390 | 0.0051 | -17 | c.782 others(34): Show |
HELZ2 | ENSG00000130589.16 | transcript | ENST00000467148.2 | protein_coding | 19/19 | chr20 | TogoVar | |||||||
HEMGN_chr9_97921791_97943172 | 97923065 | CAAAAAAA others(10): Show |
C | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG00738.hp1 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005 | a0001c0001t0002g0007 a0001c0001t0003g0003 a0001c0001t0003g0006 others(11): Show |
39 | 314 | 0.1242 | -17 | c.*43 others(28): Show |
HEMGN | ENSG00000136929.13 | transcript | ENST00000616898.2 | protein_coding | 3725 | chr9 | TogoVar | |||||||
HEMGN_chr9_97921791_97943172 | 97934435 | AGGGGGAG others(10): Show |
A | intron_variant | MODIFIER | HG02572.hp1 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 2 | 314 | 0.0064 | -17 | c.173 others(34): Show |
HEMGN | ENSG00000136929.13 | transcript | ENST00000616898.2 | protein_coding | 2/3 | chr9 | TogoVar | |||||||
HEPHL1_chr11_94016354_94119208 | 94019136 | CTTTTTTT others(10): Show |
C | upstream_gene_variant | MODIFIER | NA18973.hp2 NA18994.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0082 a0001c0001t0003g0083 |
2 | 368 | 0.0054 | -17 | c.-22 others(28): Show |
HEPHL1 | ENSG00000181333.12 | transcript | ENST00000315765.10 | protein_coding | 2217 | chr11 | TogoVar | |||||||
HERC1_chr15_63603618_63838948 | 63737499 | TATATATC others(10): Show |
T | intron_variant | MODIFIER | HG01255.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0019 | 1 | 216 | 0.0046 | -17 | c.252 others(36): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 12/77 | chr15 | TogoVar | |||||||
HERC1_chr15_63603618_63838948 | 63826801 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 HG02258.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0002 | a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 others(3): Show |
6 | 216 | 0.0278 | -17 | c.-27 others(34): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 1/77 | chr15 | TogoVar | |||||||
HERC1_chr15_63603618_63838948 | 63826805 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 216 | 0.0046 | -17 | c.-27 others(34): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 1/77 | chr15 | TogoVar | |||||||
HERC2_chr15_28106040_28327179 | 28304165 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0207 | 1 | 250 | 0.0040 | -17 | c.73- others(32): Show |
HERC2 | ENSG00000128731.18 | transcript | ENST00000261609.13 | protein_coding | 2/92 | chr15 | TogoVar | |||||||
HERC4_chr10_67916905_68080283 | 67927409 | TATATATA others(10): Show |
T | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0196 | 1 | 360 | 0.0028 | -17 | c.283 others(36): Show |
HERC4 | ENSG00000148634.16 | transcript | ENST00000373700.9 | protein_coding | 23/24 | chr10 | TogoVar | |||||||
HERC4_chr10_67916905_68080283 | 67927413 | TATATATA others(10): Show |
T | intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0337 | 1 | 360 | 0.0028 | -17 | c.283 others(36): Show |
HERC4 | ENSG00000148634.16 | transcript | ENST00000373700.9 | protein_coding | 23/24 | chr10 | TogoVar | |||||||
HERC6_chr4_88373852_88448097 | 88379990 | TATATATA others(10): Show |
T | intron_variant | MODIFIER | NA18957.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0045 | 1 | 174 | 0.0058 | -17 | c.199 others(32): Show |
HERC6 | ENSG00000138642.16 | transcript | ENST00000264346.12 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HERC6_chr4_88373852_88448097 | 88380096 | TATATATA others(10): Show |
T | intron_variant | MODIFIER | HG01256.hp1 HG03654.hp1 NA18747.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0012 a0001c0001t0001g0039 a0001c0001t0001g0040 others(2): Show |
5 | 174 | 0.0287 | -17 | c.199 others(34): Show |
HERC6 | ENSG00000138642.16 | transcript | ENST00000264346.12 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HERC6_chr4_88373852_88448097 | 88380177 | TATATAAA others(10): Show |
T | intron_variant | MODIFIER | HG02040.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0037 | 1 | 174 | 0.0058 | -17 | c.199 others(34): Show |
HERC6 | ENSG00000138642.16 | transcript | ENST00000264346.12 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HERC6_chr4_88373852_88448097 | 88380397 | TATATATA others(10): Show |
T | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 174 | 0.0058 | -17 | c.199 others(34): Show |
HERC6 | ENSG00000138642.16 | transcript | ENST00000264346.12 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HERPUD2_chr7_35627659_35700135 | 35686813 | GGGGGGGG others(10): Show |
G | intron_variant | MODIFIER | HG00438.hp2 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0315 | 1 | 392 | 0.0026 | -17 | c.147 others(34): Show |
HERPUD2 | ENSG00000122557.11 | transcript | ENST00000311350.8 | protein_coding | 2/8 | chr7 | TogoVar | |||||||
HEXB_chr5_74680233_74726288 | 74690649 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 396 | 0.0025 | -17 | c.445 others(34): Show |
HEXB | ENSG00000049860.14 | transcript | ENST00000261416.12 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
HEXD_chr17_82413347_82447645 | 82433111 | TATATATA others(10): Show |
T | intron_variant | MODIFIER | HG01167.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0183 | 1 | 400 | 0.0025 | -17 | c.283 others(32): Show |
HEXD | ENSG00000169660.17 | transcript | ENST00000327949.15 | protein_coding | 4/12 | chr17 | TogoVar | |||||||
HEXD_chr17_82413347_82447645 | 82433124 | ATATATTT others(10): Show |
A | intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0155 | 1 | 400 | 0.0025 | -17 | c.283 others(32): Show |
HEXD | ENSG00000169660.17 | transcript | ENST00000327949.15 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
HEXD_chr17_82413347_82447645 | 82433126 | ATATTTTT others(10): Show |
A | intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0306 | 1 | 400 | 0.0025 | -17 | c.283 others(32): Show |
HEXD | ENSG00000169660.17 | transcript | ENST00000327949.15 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
HEXD_chr17_82413347_82447645 | 82441553 | GGGCAGGT others(10): Show |
G | intron_variant | MODIFIER | HG01081.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0081 | 1 | 400 | 0.0025 | -17 | c.116 others(34): Show |
HEXD | ENSG00000169660.17 | transcript | ENST00000327949.15 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210394298 | CCTTGGCT others(10): Show |
C | intron_variant | MODIFIER | NA19086.hp2 | a0011 | a0011c0018 | a0011c0018t0021 | a0011c0018t0021g0019 | 1 | 268 | 0.0037 | -17 | c.274 others(34): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HHIPL2_chr1_222517264_222553104 | 222552222 | TAAAAAAA others(10): Show |
T | upstream_gene_variant | MODIFIER | NA20752.hp1 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0325 | 1 | 418 | 0.0024 | -17 | c.-41 others(28): Show |
HHIPL2 | ENSG00000143512.13 | transcript | ENST00000343410.7 | protein_coding | 4119 | chr1 | TogoVar | |||||||
HHIP_chr4_144641156_144750271 | 144670157 | GAATTGGT others(10): Show |
G | intron_variant | MODIFIER | HG01192.hp1 HG02055.hp2 HG02258.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0009a0002c0002t0063a0002c0002t0064 | a0002c0002t0009g0133 a0002c0002t0009g0134 a0002c0002t0009g0135 others(5): Show |
8 | 316 | 0.0253 | -17 | c.831 others(36): Show |
HHIP | ENSG00000164161.10 | transcript | ENST00000296575.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HHIP_chr4_144641156_144750271 | 144684232 | ATTTTTTT others(10): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG01192.hp1 HG02109.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0010others(5): Show | a0001c0001t0003g0164 a0001c0001t0003g0187 a0001c0001t0004g0114 others(7): Show |
10 | 316 | 0.0317 | -17 | c.832 others(36): Show |
HHIP | ENSG00000164161.10 | transcript | ENST00000296575.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HHIP_chr4_144641156_144750271 | 144716854 | GAAAAAAA others(10): Show |
G | intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0212 | 1 | 316 | 0.0032 | -17 | c.167 others(36): Show |
HHIP | ENSG00000164161.10 | transcript | ENST00000296575.8 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HHLA2_chr3_108291548_108383285 | 108368535 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0105 | 1 | 322 | 0.0031 | -17 | c.110 others(36): Show |
HHLA2 | ENSG00000114455.15 | transcript | ENST00000467761.6 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
HIKESHI_chr11_86297240_86350943 | 86316771 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG02622.hp2 HG03098.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0288 a0001c0001t0001g0343 a0001c0001t0001g0344 others(3): Show |
6 | 398 | 0.0151 | -17 | c.268 others(36): Show |
HIKESHI | ENSG00000149196.17 | transcript | ENST00000278483.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |