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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HDAC8_chrX_72324516_72577843 | 72554499 | A | AGCGGGTA others(2): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00738.hp1 HG01099.hp1 others(40): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 others(40): Show |
43 | 199 | 0.2161 | 9 | c.437 others(28): Show |
HDAC8 | ENSG00000147099.21 | transcript | ENST00000373573.9 | protein_coding | 4/10 | chrX | TogoVar | |||||||
HDAC8_chrX_72324516_72577843 | 72554517 | G | GGCGGGGA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00558.hp1 HG00558.hp2 others(128): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(128): Show |
131 | 157 | 0.8344 | 9 | c.437 others(28): Show |
HDAC8 | ENSG00000147099.21 | transcript | ENST00000373573.9 | protein_coding | 4/10 | chrX | TogoVar | |||||||
HDAC9_chr7_18490749_19007416 | 18507170 | A | ATATTATT others(2): Show |
intron_variant | MODIFIER | HG01361.hp2 HG02055.hp1 HG02896.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0019others(4): Show | a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0073 others(6): Show |
9 | 86 | 0.1047 | 9 | c.22+ others(26): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HDAC9_chr7_18490749_19007416 | 18823976 | A | AAAGAAGA others(2): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02572.hp2 HG03453.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0019a0001c0001t0035a0001c0006t0008 | a0001c0001t0019g0114 a0001c0001t0035g0054 a0001c0006t0008g0071 |
3 | 154 | 0.0195 | 9 | c.232 others(28): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 17/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HDAC9_chr7_18490749_19007416 | 18824044 | G | GGAAGAAG others(2): Show |
intron_variant | MODIFIER | HG01361.hp1 HG03942.hp1 NA18612.hp2 others(1): Show |
a0001 | a0001c0002a0001c0005a0001c0009 | a0001c0002t0002a0001c0002t0049a0001c0005t0011others(1): Show | a0001c0002t0002g0097 a0001c0002t0049g0066 a0001c0005t0011g0107 others(1): Show |
4 | 42 | 0.0952 | 9 | c.232 others(28): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 17/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HDAC9_chr7_18490749_19007416 | 18824044 | G | GGAAGAGG others(2): Show |
intron_variant | MODIFIER | HG02683.hp2 HG02970.hp2 HG03579.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0002t0004 | a0001c0001t0001g0014 a0001c0001t0006g0149 a0001c0002t0004g0150 |
3 | 41 | 0.0732 | 9 | c.232 others(28): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 17/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HDAC9_chr7_18490749_19007416 | 18968958 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01109.hp1 HG02523.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0005a0001c0001t0016a0001c0001t0028others(9): Show | a0001c0001t0005g0143 a0001c0001t0016g0101 a0001c0001t0028g0069 others(9): Show |
12 | 24 | 0.5000 | 9 | c.302 others(28): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 24/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HDGFL2_chr19_4467297_4507207 | 4484666 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG01167.hp1 others(36): Show |
a0001a0003 | a0001c0001a0001c0017a0003c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0034 a0001c0001t0001g0090 a0001c0001t0001g0207 others(35): Show |
39 | 156 | 0.2500 | 9 | c.289 others(26): Show |
HDGFL2 | ENSG00000167674.15 | transcript | ENST00000616600.5 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HDGFL2_chr19_4467297_4507207 | 4487437 | T | TGTAGAGA others(2): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02717.hp1 HG02895.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0082 a0001c0001t0008g0083 a0001c0001t0008g0084 others(1): Show |
4 | 356 | 0.0112 | 9 | c.289 others(26): Show |
HDGFL2 | ENSG00000167674.15 | transcript | ENST00000616600.5 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HDGFL3_chr15_83122753_83212823 | 83198054 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01167.hp1 HG02258.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0044 | a0001c0001t0001g0005 a0001c0001t0001g0118 a0001c0001t0001g0124 others(8): Show |
12 | 46 | 0.2609 | 9 | c.84+ others(24): Show |
HDGFL3 | ENSG00000166503.9 | transcript | ENST00000299633.7 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
HDGFL3_chr15_83122753_83212823 | 83207682 | C | CCCGCCGC others(2): Show |
5_prime_UTR_variant | MODIFIER | HG01109.hp2 HG01255.hp1 HG02886.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0020 | a0001c0001t0007g0014 a0001c0001t0007g0015 a0001c0001t0007g0016 others(3): Show |
6 | 172 | 0.0349 | 9 | c.-27 others(18): Show |
HDGFL3 | ENSG00000166503.9 | transcript | ENST00000299633.7 | protein_coding | 1/6 | 269 | chr15 | TogoVar | ||||||
HDHD3_chr9_113368422_113381986 | 113381760 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG01516.hp2 HG01934.hp1 HG02300.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0004 | a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0016 others(2): Show |
8 | 158 | 0.0506 | 9 | c.-53 others(20): Show |
HDHD3 | ENSG00000119431.10 | transcript | ENST00000374180.4 | protein_coding | 4775 | chr9 | TogoVar | |||||||
HDX_chrX_84312878_84507453 | 84313397 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 HG01099.hp1 HG02135.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0084 others(23): Show |
26 | 33 | 0.7879 | 9 | c.*84 others(20): Show |
HDX | ENSG00000165259.14 | transcript | ENST00000373177.3 | protein_coding | 4480 | chrX | TogoVar | |||||||
HEATR3_chr16_50060970_50112272 | 50077877 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00597.hp2 HG00609.hp2 others(25): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 others(23): Show |
28 | 29 | 0.9655 | 9 | c.764 others(24): Show |
HEATR3 | ENSG00000155393.14 | transcript | ENST00000299192.8 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
HEATR3_chr16_50060970_50112272 | 50092436 | C | CTTTTTTC others(2): Show |
intron_variant | MODIFIER | HG03017.hp1 NA18978.hp2 NA19007.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0006 | a0001c0002t0001g0024 a0001c0002t0001g0137 a0001c0002t0002g0024 others(3): Show |
6 | 14 | 0.4286 | 9 | c.151 others(28): Show |
HEATR3 | ENSG00000155393.14 | transcript | ENST00000299192.8 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
HEATR4_chr14_73473484_73563947 | 73511560 | T | TAAATAAA others(2): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03239.hp2 NA19043.hp2 |
a0001 | a0001c0004a0001c0017 | a0001c0004t0004a0001c0004t0013a0001c0017t0003 | a0001c0004t0004g0255 a0001c0004t0013g0355 a0001c0017t0003g0334 |
3 | 358 | 0.0084 | 9 | c.155 others(26): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 7/17 | chr14 | TogoVar | |||||||
HEATR4_chr14_73473484_73563947 | 73524310 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG01993.hp1 HG02004.hp2 HG03490.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0040 a0001c0001t0001g0046 a0001c0001t0003g0231 |
3 | 120 | 0.0250 | 9 | c.-72 others(26): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 2/17 | chr14 | TogoVar | |||||||
HEATR4_chr14_73473484_73563947 | 73558376 | T | TGTTTGTT others(2): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01258.hp2 HG01928.hp2 others(17): Show |
a0001a0013a0016 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 others(17): Show |
20 | 366 | 0.0546 | 9 | c.-15 others(26): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 1/17 | chr14 | TogoVar | |||||||
HEATR5A_chr14_31286788_31425550 | 31344268 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG00639.hp2 others(34): Show |
a0001a0002a0017others(1): Show | a0001c0001a0002c0002a0002c0021others(2): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0025others(3): Show | a0001c0001t0001g0263 a0001c0001t0001g0264 a0002c0002t0001g0070 others(34): Show |
37 | 133 | 0.2782 | 9 | c.305 others(26): Show |
HEATR5A | ENSG00000129493.15 | transcript | ENST00000543095.7 | protein_coding | 20/35 | chr14 | TogoVar | |||||||
HEATR5A_chr14_31286788_31425550 | 31421820 | C | CTCTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00673.hp2 HG01123.hp1 HG01261.hp1 others(19): Show |
a0004a0007a0011others(1): Show | a0004c0004a0007c0006a0011c0024others(1): Show | a0004c0004t0001a0007c0006t0006a0011c0024t0001others(1): Show | a0004c0004t0001g0095 a0004c0004t0001g0096 a0004c0004t0001g0098 others(19): Show |
22 | 238 | 0.0924 | 9 | c.-14 others(20): Show |
HEATR5A | ENSG00000129493.15 | transcript | ENST00000543095.7 | protein_coding | 1271 | chr14 | TogoVar | |||||||
HEATR5B_chr2_36975895_37089372 | 36984200 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01978.hp1 HG01993.hp2 others(4): Show |
a0001 | a0001c0002a0001c0026 | a0001c0002t0001a0001c0026t0001 | a0001c0002t0001g0022 a0001c0002t0001g0247 a0001c0002t0001g0249 others(4): Show |
7 | 260 | 0.0269 | 9 | c.591 others(28): Show |
HEATR5B | ENSG00000008869.12 | transcript | ENST00000233099.6 | protein_coding | 35/35 | chr2 | TogoVar | |||||||
HEATR5B_chr2_36975895_37089372 | 37082086 | T | TTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01261.hp1 HG01978.hp1 others(17): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0009 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0055 a0001c0001t0001g0256 a0001c0001t0001g0257 others(17): Show |
20 | 58 | 0.3448 | 9 | c.126 others(26): Show |
HEATR5B | ENSG00000008869.12 | transcript | ENST00000233099.6 | protein_coding | 2/35 | chr2 | TogoVar | |||||||
HEATR9_chr17_35849955_35873891 | 35865053 | G | GGCCGAGC others(2): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01192.hp2 HG01361.hp2 others(14): Show |
a0004a0006 | a0004c0004a0006c0007 | a0004c0004t0001a0006c0007t0001 | a0004c0004t0001g0017 a0004c0004t0001g0023 a0004c0004t0001g0037 others(8): Show |
17 | 378 | 0.0450 | 9 | c.320 others(24): Show |
HEATR9 | ENSG00000270379.6 | transcript | ENST00000604834.6 | protein_coding | 3/14 | chr17 | TogoVar | |||||||
HEBP2_chr6_138399223_138427197 | 138402413 | C | CCGATTGG others(2): Show |
upstream_gene_variant | MODIFIER | HG00738.hp1 HG02257.hp1 HG02615.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0060a0001c0001t0066a0001c0002t0011others(3): Show | a0001c0001t0060g0026 a0001c0001t0066g0060 a0001c0002t0011g0007 others(4): Show |
10 | 314 | 0.0318 | 9 | c.-20 others(20): Show |
HEBP2 | ENSG00000051620.11 | transcript | ENST00000607197.6 | protein_coding | 1809 | chr6 | TogoVar | |||||||
HECTD1_chr14_31095117_31212793 | 31134042 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG01496.hp2 others(7): Show |
a0001 | a0001c0004a0001c0007a0001c0009others(1): Show | a0001c0004t0001a0001c0007t0007a0001c0009t0003others(1): Show | a0001c0004t0001g0080 a0001c0007t0007g0025 a0001c0009t0003g0003 others(7): Show |
10 | 148 | 0.0676 | 9 | c.357 others(26): Show |
HECTD1 | ENSG00000092148.14 | transcript | ENST00000399332.6 | protein_coding | 22/42 | chr14 | TogoVar | |||||||
HECTD1_chr14_31095117_31212793 | 31183574 | A | AAATTCAG others(2): Show |
intron_variant | MODIFIER | HG02074.hp1 HG03942.hp2 NA18971.hp1 others(3): Show |
a0001 | a0001c0010a0001c0018 | a0001c0010t0004a0001c0018t0004 | a0001c0010t0004g0014 a0001c0010t0004g0015 a0001c0010t0004g0016 others(3): Show |
6 | 340 | 0.0176 | 9 | c.141 others(26): Show |
HECTD1 | ENSG00000092148.14 | transcript | ENST00000399332.6 | protein_coding | 2/42 | chr14 | TogoVar | |||||||
HECTD1_chr14_31095117_31212793 | 31203604 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02074.hp1 HG03942.hp2 NA18971.hp1 others(3): Show |
a0001 | a0001c0010a0001c0018 | a0001c0010t0004a0001c0018t0004 | a0001c0010t0004g0014 a0001c0010t0004g0015 a0001c0010t0004g0016 others(3): Show |
6 | 340 | 0.0176 | 9 | c.140 others(26): Show |
HECTD1 | ENSG00000092148.14 | transcript | ENST00000399332.6 | protein_coding | 2/42 | chr14 | TogoVar | |||||||
HECW1_chr7_43107647_43571001 | 43125757 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00673.hp1 others(7): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0062 a0001c0001t0002g0024 a0001c0001t0002g0088 others(7): Show |
10 | 45 | 0.2222 | 9 | c.-32 others(28): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HECW1_chr7_43107647_43571001 | 43179554 | T | TTTGTTGT others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00639.hp1 HG01069.hp2 others(29): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(19): Show | a0001c0001t0002g0036 a0001c0001t0002g0045 a0001c0001t0004g0001 others(29): Show |
32 | 124 | 0.2581 | 9 | c.-31 others(28): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HECW1_chr7_43107647_43571001 | 43305585 | T | TTTGTTGT others(2): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02922.hp2 HG03130.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0005a0001c0002t0017 | a0001c0002t0001g0126 a0001c0002t0005g0167 a0001c0002t0017g0058 |
3 | 130 | 0.0231 | 9 | c.28- others(24): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HECW1_chr7_43107647_43571001 | 43327961 | A | ATATTATT others(2): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02280.hp2 HG02647.hp1 others(3): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0019others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0100 a0001c0002t0001g0080 others(3): Show |
6 | 112 | 0.0536 | 9 | c.460 others(26): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HECW1_chr7_43107647_43571001 | 43446152 | G | GTGTTGTT others(2): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01517.hp2 others(2): Show |
a0001 | a0001c0002a0001c0013 | a0001c0002t0003a0001c0002t0004a0001c0013t0006 | a0001c0002t0003g0105 a0001c0002t0003g0106 a0001c0002t0003g0118 others(2): Show |
5 | 180 | 0.0278 | 9 | c.239 others(26): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 11/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HECW1_chr7_43107647_43571001 | 43446154 | T | TTTGTTGT others(2): Show |
intron_variant | MODIFIER | HG00738.hp1 HG00738.hp2 HG01074.hp1 others(15): Show |
a0001 | a0001c0002a0001c0006a0001c0010others(3): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(7): Show | a0001c0002t0001g0104 a0001c0002t0001g0141 a0001c0002t0003g0066 others(15): Show |
18 | 136 | 0.1324 | 9 | c.239 others(26): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 11/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HECW2_chr2_196189072_196598554 | 196252178 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01168.hp2 HG01169.hp1 others(41): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0002g0060 others(41): Show |
44 | 59 | 0.7458 | 9 | c.352 others(28): Show |
HECW2 | ENSG00000138411.13 | transcript | ENST00000644978.2 | protein_coding | 19/28 | chr2 | TogoVar | |||||||
HELB_chr12_66297493_66343199 | 66316567 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG01361.hp1 HG01884.hp2 HG02145.hp1 others(19): Show |
a0001a0004a0005others(4): Show | a0001c0029a0004c0034a0005c0015others(7): Show | a0001c0029t0001a0004c0034t0001a0005c0015t0001others(7): Show | a0001c0029t0001g0178 a0001c0029t0001g0214 a0004c0034t0001g0149 others(17): Show |
22 | 150 | 0.1467 | 9 | c.200 others(28): Show |
HELB | ENSG00000127311.10 | transcript | ENST00000247815.9 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
HELLS_chr10_94540788_94607099 | 94552246 | T | TTGTCTAG others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(180): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0003a0001c0011others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0013 others(166): Show |
183 | 356 | 0.5140 | 9 | c.154 others(26): Show |
HELLS | ENSG00000119969.16 | transcript | ENST00000348459.10 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
HELZ2_chr20_63553086_63579239 | 63559777 | A | AGGAGTCA others(2): Show |
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 | 388 | 0.1572 | 9 | c.782 others(26): Show |
HELZ2 | ENSG00000130589.16 | transcript | ENST00000467148.2 | protein_coding | 19/19 | chr20 | TogoVar | |||||||
HELZ_chr17_67065444_67250196 | 67228707 | C | CATTATTA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(45): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0002a0002c0011others(4): Show | a0001c0001t0044a0002c0002t0003a0002c0002t0014others(10): Show | a0001c0001t0044g0271 a0002c0002t0003g0001 a0002c0002t0003g0020 others(44): Show |
48 | 235 | 0.2043 | 9 | c.-18 others(26): Show |
HELZ | ENSG00000198265.12 | transcript | ENST00000358691.10 | protein_coding | 3/32 | chr17 | TogoVar | |||||||
HEPACAM2_chr7_93183534_93231469 | 93194921 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG00609.hp2 others(40): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0050 others(10): Show |
43 | 210 | 0.2048 | 9 | c.127 others(26): Show |
HEPACAM2 | ENSG00000188175.10 | transcript | ENST00000394468.7 | protein_coding | 8/9 | chr7 | TogoVar | |||||||
HEPHL1_chr11_94016354_94119208 | 94042891 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01167.hp1 HG02027.hp1 others(8): Show |
a0001a0003a0015 | a0001c0001a0003c0003a0015c0015 | a0001c0001t0002a0003c0003t0003a0015c0015t0003 | a0001c0001t0002g0099 a0003c0003t0003g0080 a0003c0003t0003g0085 others(8): Show |
11 | 337 | 0.0326 | 9 | c.171 others(26): Show |
HEPHL1 | ENSG00000181333.12 | transcript | ENST00000315765.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HEPHL1_chr11_94016354_94119208 | 94046091 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01070.hp2 HG01123.hp1 others(41): Show |
a0001a0003a0004others(3): Show | a0001c0001a0003c0003a0004c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0120 others(39): Show |
44 | 47 | 0.9362 | 9 | c.415 others(24): Show |
HEPHL1 | ENSG00000181333.12 | transcript | ENST00000315765.10 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HERC1_chr15_63603618_63838948 | 63695230 | T | TTTCGCCA others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00639.hp2 others(30): Show |
a0001a0002a0004others(2): Show | a0001c0011a0002c0003a0002c0012others(4): Show | a0001c0011t0001a0002c0003t0001a0002c0012t0001others(4): Show | a0001c0011t0001g0056 a0001c0011t0001g0057 a0001c0011t0001g0090 others(29): Show |
33 | 214 | 0.1542 | 9 | c.512 others(26): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 27/77 | chr15 | TogoVar | |||||||
HERC1_chr15_63603618_63838948 | 63743986 | T | TGCTTTAG others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(54): Show |
a0001a0002a0004others(6): Show | a0001c0011a0002c0003a0002c0012others(13): Show | a0001c0011t0001a0002c0003t0001a0002c0003t0002others(14): Show | a0001c0011t0001g0056 a0001c0011t0001g0057 a0001c0011t0001g0090 others(53): Show |
57 | 214 | 0.2664 | 9 | c.252 others(28): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 12/77 | chr15 | TogoVar | |||||||
HERC1_chr15_63603618_63838948 | 63826800 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG02976.hp2 HG03492.hp2 |
a0001a0017 | a0001c0001a0017c0024 | a0001c0001t0001a0017c0024t0001 | a0001c0001t0001g0125 a0017c0024t0001g0148 |
2 | 197 | 0.0102 | 9 | c.-27 others(26): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 1/77 | chr15 | TogoVar | |||||||
HERC1_chr15_63603618_63838948 | 63826802 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG00741.hp2 NA18954.hp1 |
a0001a0007 | a0001c0008a0007c0016 | a0001c0008t0001a0007c0016t0001 | a0001c0008t0001g0155 a0007c0016t0001g0131 |
2 | 176 | 0.0114 | 9 | c.-27 others(26): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 1/77 | chr15 | TogoVar | |||||||
HERC1_chr15_63603618_63838948 | 63826804 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02698.hp2 |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0013t0001 | a0001c0001t0001g0143 a0001c0013t0001g0145 |
2 | 173 | 0.0116 | 9 | c.-27 others(26): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 1/77 | chr15 | TogoVar | |||||||
HERC1_chr15_63603618_63838948 | 63826808 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG02109.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0180 a0001c0001t0004g0130 |
2 | 144 | 0.0139 | 9 | c.-27 others(26): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 1/77 | chr15 | TogoVar | |||||||
HERC2_chr15_28106040_28327179 | 28230292 | G | GTACAGAG others(2): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02622.hp2 HG02723.hp1 others(4): Show |
a0003a0015 | a0003c0004a0015c0062 | a0003c0004t0002a0015c0062t0002 | a0003c0004t0002g0009 a0003c0004t0002g0010 a0003c0004t0002g0011 others(4): Show |
7 | 248 | 0.0282 | 9 | c.480 others(24): Show |
HERC2 | ENSG00000128731.18 | transcript | ENST00000261609.13 | protein_coding | 31/92 | chr15 | TogoVar | |||||||
HERC3_chr4_88587480_88713539 | 88699191 | C | CACCCACC others(2): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02486.hp2 HG02572.hp2 others(5): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0001t0004a0001c0004t0003others(1): Show | a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0013 others(5): Show |
8 | 282 | 0.0284 | 9 | c.265 others(28): Show |
HERC3 | ENSG00000138641.18 | transcript | ENST00000402738.6 | protein_coding | 23/25 | chr4 | TogoVar | |||||||
HERC3_chr4_88587480_88713539 | 88699215 | C | CACCCACC others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01123.hp2 HG02145.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004a0001c0005 | a0001c0001t0005a0001c0004t0005a0001c0005t0005 | a0001c0001t0005g0226 a0001c0001t0005g0241 a0001c0004t0005g0263 others(2): Show |
5 | 270 | 0.0185 | 9 | c.265 others(28): Show |
HERC3 | ENSG00000138641.18 | transcript | ENST00000402738.6 | protein_coding | 23/25 | chr4 | TogoVar |