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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HDAC2_chr6_113928028_113976148 | 113930788 | C | CTCTCTCT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG03453.hp2 HG03831.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0038 | a0001c0001t0003g0001 a0001c0001t0003g0102 a0001c0001t0004g0004 others(7): Show |
12 | 376 | 0.0319 | 7 | c.*10 others(20): Show |
HDAC2 | ENSG00000196591.12 | transcript | ENST00000519065.6 | protein_coding | 2239 | chr6 | TogoVar | |||||||
HDAC3_chr5_141615881_141641849 | 141636818 | T | TCCGCCGC | 5_prime_UTR_variant | MODIFIER | HG02895.hp1 HG02897.hp1 HG03927.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0004 | a0001c0001t0004g0224 a0001c0001t0004g0225 a0001c0002t0004g0223 |
3 | 386 | 0.0078 | 7 | c.-35 others(14): Show |
HDAC3 | ENSG00000171720.10 | transcript | ENST00000305264.8 | protein_coding | 1/15 | 29 | chr5 | TogoVar | ||||||
HDAC4_chr2_239043168_239406020 | 239289590 | T | TCTGGACC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(114): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(68): Show | a0001c0001t0001g0004 a0001c0001t0001g0027 a0001c0001t0001g0063 others(114): Show |
117 | 240 | 0.4875 | 7 | c.23- others(24): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 2/26 | chr2 | TogoVar | |||||||
HDAC9_chr7_18490749_19007416 | 18719331 | C | CTTTTTTT | intron_variant | MODIFIER | HG00741.hp2 HG01175.hp1 HG02040.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0037others(6): Show | a0001c0001t0002g0085 a0001c0001t0004g0064 a0001c0001t0037g0050 others(6): Show |
9 | 49 | 0.1837 | 7 | c.173 others(26): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 12/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HDAC9_chr7_18490749_19007416 | 18968958 | C | CAAAAAAA | intron_variant | MODIFIER | HG02040.hp2 HG03492.hp1 NA18906.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0002g0094 a0001c0001t0004g0064 a0001c0001t0005g0120 others(3): Show |
6 | 18 | 0.3333 | 7 | c.302 others(26): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 24/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HDAC9_chr7_18490749_19007416 | 18980785 | T | TCTTCTTC | intron_variant | MODIFIER | HG02602.hp1 HG02683.hp1 |
a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0026 a0001c0002t0011g0037 |
2 | 154 | 0.0130 | 7 | c.317 others(26): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 25/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HDGFL2_chr19_4467297_4507207 | 4484666 | A | ATTTTTTT | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00738.hp1 others(74): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0013 others(73): Show |
77 | 194 | 0.3969 | 7 | c.289 others(24): Show |
HDGFL2 | ENSG00000167674.15 | transcript | ENST00000616600.5 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HDGFL3_chr15_83122753_83212823 | 83169414 | C | CAAAAAAA | intron_variant | MODIFIER | HG02040.hp2 HG02083.hp1 HG02698.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0008 | a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 others(9): Show |
12 | 48 | 0.2500 | 7 | c.85- others(22): Show |
HDGFL3 | ENSG00000166503.9 | transcript | ENST00000299633.7 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
HDGF_chr1_156737109_156756675 | 156747250 | G | GCCCCCCC | intron_variant | MODIFIER | HG00673.hp2 HG01099.hp1 HG01106.hp1 others(18): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0008 a0001c0001t0001g0033 a0001c0001t0001g0035 others(7): Show |
21 | 42 | 0.5000 | 7 | c.88- others(22): Show |
HDGF | ENSG00000143321.19 | transcript | ENST00000357325.10 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
HDHD5_chr22_17132520_17164277 | 17134008 | T | TAAAAAAA | downstream_gene_variant | MODIFIER | HG02071.hp2 HG02083.hp2 HG02165.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(1): Show | a0001c0001t0001g0058 a0001c0001t0001g0105 a0001c0002t0001g0014 others(11): Show |
15 | 264 | 0.0568 | 7 | c.*40 others(18): Show |
HDHD5 | ENSG00000069998.12 | transcript | ENST00000336737.8 | protein_coding | 3511 | chr22 | TogoVar | |||||||
HDHD5_chr22_17132520_17164277 | 17157271 | C | CTTTTCTT | intron_variant | MODIFIER | HG01109.hp2 HG01167.hp1 HG01952.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0151 a0001c0002t0001g0027 a0001c0002t0001g0152 others(5): Show |
10 | 333 | 0.0300 | 7 | c.126 others(24): Show |
HDHD5 | ENSG00000069998.12 | transcript | ENST00000336737.8 | protein_coding | 1/7 | chr22 | TogoVar | |||||||
HDHD5_chr22_17132520_17164277 | 17157271 | C | CTTTTTTT | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG02080.hp2 others(16): Show |
a0001 | a0001c0002a0001c0015 | a0001c0002t0001a0001c0015t0001 | a0001c0002t0001g0014 a0001c0002t0001g0039 a0001c0002t0001g0158 others(11): Show |
19 | 342 | 0.0556 | 7 | c.126 others(24): Show |
HDHD5 | ENSG00000069998.12 | transcript | ENST00000336737.8 | protein_coding | 1/7 | chr22 | TogoVar | |||||||
HEATR1_chr1_236544005_236609516 | 236580519 | C | CTTTTTTT | intron_variant | MODIFIER | HG00621.hp2 HG01358.hp2 HG02132.hp1 others(15): Show |
a0001a0027 | a0001c0001a0001c0046a0027c0045 | a0001c0001t0001a0001c0046t0001a0027c0045t0001 | a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0052 others(10): Show |
18 | 153 | 0.1176 | 7 | c.275 others(24): Show |
HEATR1 | ENSG00000119285.11 | transcript | ENST00000366582.8 | protein_coding | 20/44 | chr1 | TogoVar | |||||||
HEATR3_chr16_50060970_50112272 | 50077877 | A | ATTTTTTT | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00597.hp1 others(92): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0002a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0007 a0001c0001t0001g0031 a0001c0001t0001g0204 others(80): Show |
95 | 96 | 0.9896 | 7 | c.764 others(22): Show |
HEATR3 | ENSG00000155393.14 | transcript | ENST00000299192.8 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
HEATR3_chr16_50060970_50112272 | 50092436 | C | CTTTTTTT | intron_variant | MODIFIER | HG00733.hp1 HG01081.hp1 HG01256.hp1 others(31): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(6): Show | a0001c0001t0001g0007 a0001c0001t0001g0031 a0001c0001t0001g0175 others(28): Show |
34 | 42 | 0.8095 | 7 | c.151 others(26): Show |
HEATR3 | ENSG00000155393.14 | transcript | ENST00000299192.8 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
HEATR4_chr14_73473484_73563947 | 73479419 | T | TTTCTTTC | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG02015.hp2 others(14): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0043 a0001c0001t0001g0082 a0001c0001t0001g0089 others(14): Show |
17 | 34 | 0.5000 | 7 | c.284 others(24): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 17/17 | chr14 | TogoVar | |||||||
HEATR4_chr14_73473484_73563947 | 73506804 | G | GTTTTTTT | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp2 others(20): Show |
a0001a0012a0016 | a0001c0001a0001c0002a0001c0017others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0113 others(19): Show |
23 | 91 | 0.2527 | 7 | c.188 others(24): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 9/17 | chr14 | TogoVar | |||||||
HEATR4_chr14_73473484_73563947 | 73524310 | A | AAAAAAAT | intron_variant | MODIFIER | HG00642.hp1 HG01106.hp2 HG01928.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001 a0001c0001t0001g0097 a0001c0001t0001g0105 others(7): Show |
11 | 128 | 0.0859 | 7 | c.-72 others(24): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 2/17 | chr14 | TogoVar | |||||||
HEATR4_chr14_73473484_73563947 | 73524310 | A | AAAAATAT | intron_variant | MODIFIER | HG00099.hp2 HG01070.hp2 HG01071.hp1 others(23): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(5): Show | a0001c0001t0001g0020 a0001c0001t0001g0065 a0001c0001t0001g0096 others(23): Show |
26 | 143 | 0.1818 | 7 | c.-72 others(24): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 2/17 | chr14 | TogoVar | |||||||
HEATR4_chr14_73473484_73563947 | 73528392 | C | CAAAAAAA | intron_variant | MODIFIER | HG00738.hp1 HG01109.hp1 HG01346.hp1 others(5): Show |
a0001a0004a0014others(1): Show | a0001c0001a0001c0003a0004c0011others(3): Show | a0001c0001t0001a0001c0003t0004a0004c0011t0004others(3): Show | a0001c0001t0001g0058 a0001c0003t0004g0254 a0004c0011t0004g0179 others(5): Show |
8 | 44 | 0.1818 | 7 | c.-73 others(24): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 2/17 | chr14 | TogoVar | |||||||
HEATR5A_chr14_31286788_31425550 | 31409054 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(269): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0015a0001c0031others(20): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0015others(30): Show | a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0029 others(268): Show |
272 | 288 | 0.9444 | 7 | c.-74 others(24): Show |
HEATR5A | ENSG00000129493.15 | transcript | ENST00000543095.7 | protein_coding | 1/35 | chr14 | TogoVar | |||||||
HEATR5B_chr2_36975895_37089372 | 37082086 | T | TTTTTTTC | intron_variant | MODIFIER | HG00642.hp2 HG00741.hp1 HG01175.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(2): Show | a0001c0001t0001g0021 a0001c0001t0001g0061 a0001c0001t0001g0062 others(14): Show |
17 | 55 | 0.3091 | 7 | c.126 others(24): Show |
HEATR5B | ENSG00000008869.12 | transcript | ENST00000233099.6 | protein_coding | 2/35 | chr2 | TogoVar | |||||||
HEATR9_chr17_35849955_35873891 | 35860479 | T | TTTATTTA | intron_variant | MODIFIER | HG02965.hp1 HG02965.hp2 HG03516.hp2 |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0007 | a0001c0001t0001a0002c0002t0001a0006c0007t0001 | a0001c0001t0001g0008 a0002c0002t0001g0035 a0006c0007t0001g0106 |
3 | 364 | 0.0082 | 7 | c.757 others(24): Show |
HEATR9 | ENSG00000270379.6 | transcript | ENST00000604834.6 | protein_coding | 8/14 | chr17 | TogoVar | |||||||
HECTD4_chr12_112155195_112387431 | 112155302 | A | ATTTTTTT | downstream_gene_variant | MODIFIER | HG01943.hp1 HG02717.hp2 HG02809.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0030a0002c0004 | a0001c0001t0004a0001c0001t0007a0001c0030t0007others(1): Show | a0001c0001t0004g0023 a0001c0001t0007g0025 a0001c0001t0007g0034 others(2): Show |
5 | 85 | 0.0588 | 7 | c.*70 others(18): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 4892 | chr12 | TogoVar | |||||||
HECTD4_chr12_112155195_112387431 | 112189550 | C | CAAAAAAA | intron_variant | MODIFIER | HG00597.hp2 HG01099.hp1 HG01109.hp2 others(28): Show |
a0001a0002a0007 | a0001c0001a0001c0013a0002c0004others(1): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(7): Show | a0001c0001t0003g0006 a0001c0001t0003g0011 a0001c0001t0003g0014 others(28): Show |
31 | 111 | 0.2793 | 7 | c.947 others(26): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 60/75 | chr12 | TogoVar | |||||||
HECW1_chr7_43107647_43571001 | 43319601 | C | CTTTTTTT | intron_variant | MODIFIER | HG02109.hp2 HG02280.hp2 HG02572.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0016a0001c0001t0029others(3): Show | a0001c0001t0001g0100 a0001c0001t0016g0049 a0001c0001t0029g0098 others(3): Show |
6 | 60 | 0.1000 | 7 | c.353 others(24): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 4/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HECW1_chr7_43107647_43571001 | 43319775 | A | ATTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp2 others(89): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0072 others(89): Show |
92 | 150 | 0.6133 | 7 | c.353 others(22): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 4/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HECW1_chr7_43107647_43571001 | 43328319 | A | AAACAAAC | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(37): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(20): Show | a0001c0001t0002g0038 a0001c0001t0004g0017 a0001c0001t0004g0023 others(37): Show |
40 | 180 | 0.2222 | 7 | c.460 others(24): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HECW1_chr7_43107647_43571001 | 43422927 | C | CCGAGAGT | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00558.hp1 others(54): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0114 others(54): Show |
57 | 180 | 0.3167 | 7 | c.802 others(26): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 8/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HECW1_chr7_43107647_43571001 | 43425293 | A | AGATAGAT | intron_variant | MODIFIER | HG02280.hp2 NA18971.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0024a0001c0006t0019 | a0001c0001t0024g0070 a0001c0006t0019g0073 |
2 | 180 | 0.0111 | 7 | c.802 others(26): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 8/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HECW2_chr2_196189072_196598554 | 196269496 | C | CAAAAAAA | intron_variant | MODIFIER | HG00733.hp2 HG01169.hp2 HG01358.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0018a0001c0001t0025others(2): Show | a0001c0001t0006g0027 a0001c0001t0018g0033 a0001c0001t0025g0022 others(4): Show |
7 | 20 | 0.3500 | 7 | c.333 others(26): Show |
HECW2 | ENSG00000138411.13 | transcript | ENST00000644978.2 | protein_coding | 17/28 | chr2 | TogoVar | |||||||
HEG1_chr3_124960710_125060997 | 125036209 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(121): Show |
a0001a0005a0008others(11): Show | a0001c0001a0001c0002a0001c0010others(20): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(78): Show | a0001c0001t0004g0273 a0001c0001t0004g0274 a0001c0001t0004g0275 others(120): Show |
124 | 215 | 0.5767 | 7 | c.317 others(24): Show |
HEG1 | ENSG00000173706.15 | transcript | ENST00000311127.9 | protein_coding | 1/16 | chr3 | TogoVar | |||||||
HEG1_chr3_124960710_125060997 | 125055935 | A | AGGGCAGC | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(205): Show |
a0001a0002a0003others(22): Show | a0001c0001a0001c0002a0001c0010others(52): Show | a0001c0001t0007a0001c0001t0010a0001c0001t0011others(131): Show | a0001c0001t0007g0114 a0001c0001t0010g0069 a0001c0001t0011g0082 others(198): Show |
208 | 354 | 0.5876 | 7 | c.-52 others(14): Show |
HEG1 | ENSG00000173706.15 | transcript | ENST00000311127.9 | protein_coding | 1/17 | 46 | chr3 | TogoVar | ||||||
HELQ_chr4_83402346_83460823 | 83438748 | G | GAAAAAAA | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp1 HG02451.hp1 others(33): Show |
a0001a0003a0004others(4): Show | a0001c0004a0003c0003a0003c0016others(7): Show | a0001c0004t0001a0003c0003t0002a0003c0016t0001others(8): Show | a0001c0004t0001g0056 a0003c0003t0002g0011 a0003c0003t0002g0030 others(29): Show |
36 | 140 | 0.2571 | 7 | c.180 others(26): Show |
HELQ | ENSG00000163312.11 | transcript | ENST00000295488.8 | protein_coding | 8/17 | chr4 | TogoVar | |||||||
HELT_chr4_185013490_185025953 | 185022278 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00642.hp1 HG01081.hp2 HG01943.hp2 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0003 a0001c0001t0002g0010 a0002c0002t0001g0004 |
17 | 103 | 0.1650 | 7 | c.*15 others(18): Show |
HELT | ENSG00000187821.9 | transcript | ENST00000515777.6 | protein_coding | 1326 | chr4 | TogoVar | |||||||
HELZ2_chr20_63553086_63579239 | 63559780 | C | CAGATGGG | intron_variant | MODIFIER | HG00735.hp2 HG01175.hp2 HG01192.hp1 others(58): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0060a0001c0063others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0002g0195 others(47): Show |
61 | 384 | 0.1589 | 7 | c.782 others(24): Show |
HELZ2 | ENSG00000130589.16 | transcript | ENST00000467148.2 | protein_coding | 19/19 | chr20 | TogoVar | |||||||
HELZ2_chr20_63553086_63579239 | 63578390 | A | AAAGGGTG | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(239): Show |
a0001a0002a0003others(57): Show | a0001c0001a0001c0006a0001c0022others(88): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(154): Show | a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0001g0218 others(200): Show |
242 | 388 | 0.6237 | 7 | c.-50 others(18): Show |
HELZ2 | ENSG00000130589.16 | transcript | ENST00000467148.2 | protein_coding | 4152 | chr20 | TogoVar | |||||||
HELZ_chr17_67065444_67250196 | 67119993 | C | CTTTTTTT | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG01070.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(4): Show | a0001c0001t0001g0087 a0001c0001t0001g0182 a0001c0001t0001g0183 others(20): Show |
23 | 82 | 0.2805 | 7 | c.383 others(24): Show |
HELZ | ENSG00000198265.12 | transcript | ENST00000358691.10 | protein_coding | 27/32 | chr17 | TogoVar | |||||||
HEMGN_chr9_97921791_97943172 | 97923065 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG01074.hp2 HG01975.hp2 HG01993.hp2 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0004 a0001c0002t0003g0007 a0001c0002t0003g0068 others(1): Show |
9 | 13 | 0.6923 | 7 | c.*43 others(18): Show |
HEMGN | ENSG00000136929.13 | transcript | ENST00000616898.2 | protein_coding | 3725 | chr9 | TogoVar | |||||||
HEPHL1_chr11_94016354_94119208 | 94046091 | C | CTTTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(81): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0007a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0004 a0001c0001t0001g0165 a0001c0001t0001g0167 others(78): Show |
84 | 87 | 0.9655 | 7 | c.415 others(22): Show |
HEPHL1 | ENSG00000181333.12 | transcript | ENST00000315765.10 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HEPHL1_chr11_94016354_94119208 | 94056657 | T | TATCTATC | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00558.hp2 others(53): Show |
a0001a0009a0010 | a0001c0001a0001c0006a0001c0027others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 others(51): Show |
56 | 236 | 0.2373 | 7 | c.416 others(24): Show |
HEPHL1 | ENSG00000181333.12 | transcript | ENST00000315765.10 | protein_coding | 2/19 | chr11 | TogoVar | |||||||
HEPH_chrX_66159247_66272389 | 66206339 | C | CTTTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG01516.hp2 HG02257.hp2 others(2): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0006 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0101 a0001c0001t0001g0181 a0001c0002t0001g0043 others(2): Show |
5 | 38 | 0.1316 | 7 | c.229 others(24): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
HERC1_chr15_63603618_63838948 | 63700708 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00738.hp1 HG01168.hp2 others(10): Show |
a0002a0018 | a0002c0003a0002c0028a0018c0039 | a0002c0003t0002a0002c0028t0002a0018c0039t0002 | a0002c0003t0002g0054 a0002c0003t0002g0055 a0002c0003t0002g0058 others(10): Show |
13 | 139 | 0.0935 | 7 | c.463 others(26): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 25/77 | chr15 | TogoVar | |||||||
HERC1_chr15_63603618_63838948 | 63826800 | A | ATATATAT | intron_variant | MODIFIER | HG02145.hp1 HG02145.hp2 |
a0001 | a0001c0001a0001c0020 | a0001c0001t0001a0001c0020t0001 | a0001c0001t0001g0175 a0001c0020t0001g0164 |
2 | 197 | 0.0102 | 7 | c.-27 others(24): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 1/77 | chr15 | TogoVar | |||||||
HERC1_chr15_63603618_63838948 | 63826802 | A | ATATATAT | intron_variant | MODIFIER | HG00738.hp2 HG01192.hp1 HG01981.hp2 others(2): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0168 a0001c0001t0001g0197 a0001c0006t0001g0002 others(1): Show |
5 | 179 | 0.0279 | 7 | c.-27 others(24): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 1/77 | chr15 | TogoVar | |||||||
HERC1_chr15_63603618_63838948 | 63826806 | A | ATATATAT | intron_variant | MODIFIER | HG01258.hp2 HG02647.hp1 NA19067.hp1 |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0013t0001 | a0001c0001t0001g0133 a0001c0001t0001g0181 a0001c0013t0001g0172 |
3 | 153 | 0.0196 | 7 | c.-27 others(24): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 1/77 | chr15 | TogoVar | |||||||
HERC2_chr15_28106040_28327179 | 28321530 | G | GGTTCAAT | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp1 others(106): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0003a0001c0011others(34): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(37): Show | a0001c0001t0001g0036 a0001c0003t0001g0017 a0001c0003t0001g0185 others(106): Show |
109 | 248 | 0.4395 | 7 | c.-31 others(20): Show |
HERC2 | ENSG00000128731.18 | transcript | ENST00000261609.13 | protein_coding | 1/92 | chr15 | TogoVar | |||||||
HES4_chr1_993964_1005097 | 1002415 | C | CATTTTTT | upstream_gene_variant | MODIFIER | HG00733.hp1 HG02080.hp1 NA18993.hp2 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0001 a0003c0005t0001g0015 |
3 | 38 | 0.0789 | 7 | c.-24 others(18): Show |
HES4 | ENSG00000188290.11 | transcript | ENST00000304952.11 | protein_coding | 2319 | chr1 | TogoVar | |||||||
HEXIM2_chr17_45156875_45175035 | 45167024 | C | CAAAAAAA | intron_variant | MODIFIER | HG01358.hp2 HG02055.hp2 HG02145.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0072 others(6): Show |
9 | 130 | 0.0692 | 7 | c.67- others(22): Show |
HEXIM2 | ENSG00000168517.11 | transcript | ENST00000589230.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
HEXIM2_chr17_45156875_45175035 | 45174848 | A | AAAAAAAG | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(210): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(84): Show |
213 | 361 | 0.5900 | 7 | c.*50 others(18): Show |
HEXIM2 | ENSG00000168517.11 | transcript | ENST00000589230.6 | protein_coding | 4814 | chr17 | TogoVar |