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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HAT1_chr2_171917461_171988686 | 171977557 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | NA18747.hp1 NA18982.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 a0001c0001t0001g0199 |
2 | 152 | 0.0132 | 19 | c.975 others(36): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HAT1_chr2_171917461_171988686 | 171977557 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG00597.hp2 NA18979.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 a0001c0001t0001g0210 |
2 | 152 | 0.0132 | 19 | c.975 others(36): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HAT1_chr2_171917461_171988686 | 171977558 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | HG03654.hp1 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 a0001c0001t0001g0251 |
2 | 301 | 0.0066 | 19 | c.975 others(36): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 9/10 | chr2 | TogoVar | |||||||
HAUS3_chr4_2223349_2247121 | 2244068 | A | AGAGACAG others(12): Show |
upstream_gene_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0006 | 1 | 328 | 0.0030 | 19 | c.-24 others(30): Show |
HAUS3 | ENSG00000214367.10 | transcript | ENST00000443786.3 | protein_coding | 1948 | chr4 | TogoVar | |||||||
HAVCR1_chr5_157024413_157064116 | 157039383 | C | CTGTTGCC others(12): Show |
intron_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 350 | 0.0029 | 19 | c.838 others(36): Show |
HAVCR1 | ENSG00000113249.14 | transcript | ENST00000523175.6 | protein_coding | 6/8 | chr5 | TogoVar | |||||||
HAVCR1_chr5_157024413_157064116 | 157042066 | T | TAGCTCAT others(12): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0116 | 1 | 350 | 0.0029 | 19 | c.837 others(34): Show |
HAVCR1 | ENSG00000113249.14 | transcript | ENST00000523175.6 | protein_coding | 6/8 | chr5 | TogoVar | |||||||
HAVCR1_chr5_157024413_157064116 | 157044421 | G | GAAGGAAG others(12): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0049 | 1 | 265 | 0.0038 | 19 | c.782 others(36): Show |
HAVCR1 | ENSG00000113249.14 | transcript | ENST00000523175.6 | protein_coding | 5/8 | chr5 | TogoVar | |||||||
HAX1_chr1_154267629_154280875 | 154277333 | T | TATATATA others(12): Show |
downstream_gene_variant | MODIFIER | HG02622.hp1 HG02818.hp2 HG03139.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0005 a0001c0002t0001g0002 |
5 | 287 | 0.0174 | 19 | c.*16 others(30): Show |
HAX1 | ENSG00000143575.16 | transcript | ENST00000328703.12 | protein_coding | 1459 | chr1 | TogoVar | |||||||
HBM_chr16_160978_171764 | 164789 | C | CGGGGTCG others(12): Show |
upstream_gene_variant | MODIFIER | HG03098.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0001 | 1 | 364 | 0.0027 | 19 | c.-12 others(30): Show |
HBM | ENSG00000206177.7 | transcript | ENST00000356815.4 | protein_coding | 1188 | chr16 | TogoVar | |||||||
HBP1_chr7_107164003_107207522 | 107171073 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0194 | 1 | 72 | 0.0139 | 19 | c.-16 others(36): Show |
HBP1 | ENSG00000105856.14 | transcript | ENST00000222574.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HBP1_chr7_107164003_107207522 | 107186147 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0194 | 1 | 366 | 0.0027 | 19 | c.541 others(34): Show |
HBP1 | ENSG00000105856.14 | transcript | ENST00000222574.9 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HBQ1_chr16_175459_186179 | 182131 | A | ACAGGCCG others(12): Show |
downstream_gene_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 382 | 0.0026 | 19 | c.*10 others(30): Show |
HBQ1 | ENSG00000086506.3 | transcript | ENST00000199708.3 | protein_coding | 953 | chr16 | TogoVar | |||||||
HBQ1_chr16_175459_186179 | 184371 | C | CTACCCTT others(12): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 382 | 0.0026 | 19 | c.*32 others(30): Show |
HBQ1 | ENSG00000086506.3 | transcript | ENST00000199708.3 | protein_coding | 3193 | chr16 | TogoVar | |||||||
HBS1L_chr6_134955378_135059822 | 135040344 | C | CCTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0034a0001c0001t0035 | a0001c0001t0034g0254 a0001c0001t0035g0255 |
2 | 126 | 0.0159 | 19 | c.236 others(34): Show |
HBS1L | ENSG00000112339.15 | transcript | ENST00000367837.10 | protein_coding | 3/17 | chr6 | TogoVar | |||||||
HBZ_chr16_147644_159503 | 154145 | C | CGGGGCGG others(12): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 421 | 0.0024 | 19 | c.300 others(32): Show |
HBZ | ENSG00000130656.6 | transcript | ENST00000252951.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
HCK_chr20_32047242_32106856 | 32094700 | A | AAAGAAAG others(12): Show |
intron_variant | MODIFIER | NA18950.hp2 NA18968.hp1 NA18980.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 |
3 | 262 | 0.0115 | 19 | c.124 others(36): Show |
HCK | ENSG00000101336.18 | transcript | ENST00000375852.5 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
HCK_chr20_32047242_32106856 | 32099350 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02615.hp1 HG02723.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0002t0001g0054 others(2): Show |
5 | 106 | 0.0472 | 19 | c.137 others(36): Show |
HCK | ENSG00000101336.18 | transcript | ENST00000375852.5 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
HCK_chr20_32047242_32106856 | 32103203 | A | AGCTGGGG others(12): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00609.hp1 others(93): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0021 others(92): Show |
96 | 288 | 0.3333 | 19 | c.*16 others(30): Show |
HCK | ENSG00000101336.18 | transcript | ENST00000375852.5 | protein_coding | 1348 | chr20 | TogoVar | |||||||
HCLS1_chr3_121626399_121665903 | 121665400 | A | ATTCAATA others(12): Show |
upstream_gene_variant | MODIFIER | HG02056.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0013 | 1 | 367 | 0.0027 | 19 | c.-45 others(30): Show |
HCLS1 | ENSG00000180353.11 | transcript | ENST00000314583.8 | protein_coding | 4498 | chr3 | TogoVar | |||||||
HCRTR2_chr6_55169515_55287617 | 55241861 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 215 | 0.0047 | 19 | c.224 others(36): Show |
HCRTR2 | ENSG00000137252.10 | transcript | ENST00000370862.4 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
HDAC1_chr1_32287083_32338626 | 32316283 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02647.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 a0001c0001t0001g0110 |
2 | 127 | 0.0157 | 19 | c.163 others(34): Show |
HDAC1 | ENSG00000116478.12 | transcript | ENST00000373548.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HDAC4_chr2_239043168_239406020 | 239176357 | C | CCCCTCCC others(12): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(93): Show |
a0001a0004a0008 | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(62): Show | a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0064 others(93): Show |
96 | 240 | 0.4000 | 19 | c.490 others(32): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 5/26 | chr2 | TogoVar | |||||||
HDAC4_chr2_239043168_239406020 | 239176372 | G | GGCCTCCC others(12): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00741.hp2 HG01884.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0039others(12): Show | a0001c0001t0001g0027 a0001c0001t0005g0018 a0001c0001t0039g0219 others(13): Show |
16 | 222 | 0.0721 | 19 | c.490 others(32): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 5/26 | chr2 | TogoVar | |||||||
HDAC4_chr2_239043168_239406020 | 239197847 | T | TGTGTGTG others(12): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0057 | a0001c0001t0057g0088 | 1 | 68 | 0.0147 | 19 | c.95- others(34): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 3/26 | chr2 | TogoVar | |||||||
HDAC9_chr7_18490749_19007416 | 18719331 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 41 | 0.0244 | 19 | c.173 others(38): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 12/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HDHD3_chr9_113368422_113381986 | 113381760 | C | CTTTTTTT others(12): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG01071.hp2 HG01256.hp1 others(21): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0002c0002t0002a0002c0002t0011others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0013 others(5): Show |
24 | 174 | 0.1379 | 19 | c.-53 others(30): Show |
HDHD3 | ENSG00000119431.10 | transcript | ENST00000374180.4 | protein_coding | 4775 | chr9 | TogoVar | |||||||
HEATR4_chr14_73473484_73563947 | 73506804 | G | GTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00673.hp2 HG02135.hp2 others(13): Show |
a0001a0018 | a0001c0001a0018c0018 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0027 a0001c0001t0001g0037 a0001c0001t0001g0064 others(13): Show |
16 | 84 | 0.1905 | 19 | c.188 others(36): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 9/17 | chr14 | TogoVar | |||||||
HEATR4_chr14_73473484_73563947 | 73524304 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0049 | 1 | 364 | 0.0027 | 19 | c.-72 others(36): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 2/17 | chr14 | TogoVar | |||||||
HEATR5B_chr2_36975895_37089372 | 37082086 | T | TTTTTTTT others(12): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0212 | 1 | 39 | 0.0256 | 19 | c.126 others(36): Show |
HEATR5B | ENSG00000008869.12 | transcript | ENST00000233099.6 | protein_coding | 2/35 | chr2 | TogoVar | |||||||
HECTD1_chr14_31095117_31212793 | 31134042 | T | TAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02074.hp2 HG02723.hp2 others(10): Show |
a0001a0010 | a0001c0002a0001c0003a0001c0010others(2): Show | a0001c0002t0001a0001c0003t0001a0001c0010t0004others(2): Show | a0001c0002t0001g0053 a0001c0002t0001g0058 a0001c0002t0001g0059 others(10): Show |
13 | 151 | 0.0861 | 19 | c.357 others(36): Show |
HECTD1 | ENSG00000092148.14 | transcript | ENST00000399332.6 | protein_coding | 22/42 | chr14 | TogoVar | |||||||
HECTD4_chr12_112155195_112387431 | 112155302 | A | ATTTTTTT others(12): Show |
downstream_gene_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0184 | 1 | 81 | 0.0123 | 19 | c.*70 others(30): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 4892 | chr12 | TogoVar | |||||||
HECTD4_chr12_112155195_112387431 | 112323969 | C | CTTTCTTT others(12): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0065 | 1 | 224 | 0.0045 | 19 | c.178 others(36): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 1/75 | chr12 | TogoVar | |||||||
HELT_chr4_185013490_185025953 | 185023078 | T | TCTCTCTC others(12): Show |
downstream_gene_variant | MODIFIER | NA18942.hp1 NA19007.hp1 NA19082.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 3 | 364 | 0.0082 | 19 | c.*23 others(30): Show |
HELT | ENSG00000187821.9 | transcript | ENST00000515777.6 | protein_coding | 2126 | chr4 | TogoVar | |||||||
HELZ_chr17_67065444_67250196 | 67089647 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0231 | 1 | 250 | 0.0040 | 19 | c.524 others(38): Show |
HELZ | ENSG00000198265.12 | transcript | ENST00000358691.10 | protein_coding | 31/32 | chr17 | TogoVar | |||||||
HELZ_chr17_67065444_67250196 | 67212314 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02895.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0045 | a0001c0001t0004g0252 a0001c0001t0045g0009 |
2 | 66 | 0.0303 | 19 | c.247 others(36): Show |
HELZ | ENSG00000198265.12 | transcript | ENST00000358691.10 | protein_coding | 5/32 | chr17 | TogoVar | |||||||
HEMK1_chr3_50564522_50601166 | 50591697 | T | TGTGTGTG others(12): Show |
3_prime_UTR_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0002 | a0001c0002t0113 | a0001c0002t0113g0002 | 1 | 309 | 0.0032 | 19 | c.*11 others(32): Show |
HEMK1 | ENSG00000114735.10 | transcript | ENST00000232854.9 | protein_coding | 11/11 | 11281 | chr3 | TogoVar | ||||||
HEPHL1_chr11_94016354_94119208 | 94042875 | T | TAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02895.hp1 HG02897.hp1 others(3): Show |
a0004a0011 | a0004c0004a0011c0014 | a0004c0004t0001a0011c0014t0004 | a0004c0004t0001g0351 a0004c0004t0001g0352 a0004c0004t0001g0353 others(3): Show |
6 | 238 | 0.0252 | 19 | c.171 others(36): Show |
HEPHL1 | ENSG00000181333.12 | transcript | ENST00000315765.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HEPHL1_chr11_94016354_94119208 | 94042882 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02647.hp1 HG02809.hp2 others(4): Show |
a0002a0014 | a0002c0005a0014c0030 | a0002c0005t0004a0014c0030t0004 | a0002c0005t0004g0074 a0002c0005t0004g0075 a0002c0005t0004g0076 others(4): Show |
7 | 366 | 0.0191 | 19 | c.171 others(36): Show |
HEPHL1 | ENSG00000181333.12 | transcript | ENST00000315765.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HEPHL1_chr11_94016354_94119208 | 94094014 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | NA18998.hp1 NA18998.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0168 |
2 | 363 | 0.0055 | 19 | c.243 others(36): Show |
HEPHL1 | ENSG00000181333.12 | transcript | ENST00000315765.10 | protein_coding | 13/19 | chr11 | TogoVar | |||||||
HEPH_chrX_66159247_66272389 | 66200273 | T | TGTGTGTG others(12): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0080 | 1 | 214 | 0.0047 | 19 | c.186 others(36): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 11/20 | chrX | TogoVar | |||||||
HERC1_chr15_63603618_63838948 | 63720103 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02559.hp2 HG03195.hp2 HG03516.hp1 |
a0004 | a0004c0014 | a0004c0014t0001 | a0004c0014t0001g0079 a0004c0014t0001g0080 a0004c0014t0001g0081 |
3 | 49 | 0.0612 | 19 | c.374 others(38): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 19/77 | chr15 | TogoVar | |||||||
HERC1_chr15_63603618_63838948 | 63737489 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0095 | 1 | 213 | 0.0047 | 19 | c.252 others(38): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 12/77 | chr15 | TogoVar | |||||||
HERC1_chr15_63603618_63838948 | 63826802 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0154 | 1 | 175 | 0.0057 | 19 | c.-27 others(36): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 1/77 | chr15 | TogoVar | |||||||
HERC1_chr15_63603618_63838948 | 63826806 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 151 | 0.0066 | 19 | c.-27 others(36): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 1/77 | chr15 | TogoVar | |||||||
HERC2_chr15_28106040_28327179 | 28146402 | A | AAACAGTG others(12): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01257.hp1 HG02055.hp1 others(9): Show |
a0004a0007a0018 | a0004c0006a0007c0018a0018c0019 | a0004c0006t0002a0004c0006t0004a0007c0018t0001others(2): Show | a0004c0006t0002g0191 a0004c0006t0002g0192 a0004c0006t0002g0193 others(9): Show |
12 | 248 | 0.0484 | 19 | c.109 others(36): Show |
HERC2 | ENSG00000128731.18 | transcript | ENST00000261609.13 | protein_coding | 70/92 | chr15 | TogoVar | |||||||
HERC4_chr10_67916905_68080283 | 68059781 | A | ATTATATA others(12): Show |
intron_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 354 | 0.0028 | 19 | c.226 others(38): Show |
HERC4 | ENSG00000148634.16 | transcript | ENST00000373700.9 | protein_coding | 3/24 | chr10 | TogoVar | |||||||
HERC4_chr10_67916905_68080283 | 68059811 | A | ATTATATA others(12): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0063 | 1 | 357 | 0.0028 | 19 | c.226 others(38): Show |
HERC4 | ENSG00000148634.16 | transcript | ENST00000373700.9 | protein_coding | 3/24 | chr10 | TogoVar | |||||||
HERC5_chr4_88452119_88511163 | 88501986 | G | GACGGTTT others(12): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 328 | 0.0030 | 19 | c.258 others(38): Show |
HERC5 | ENSG00000138646.9 | transcript | ENST00000264350.8 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HERC6_chr4_88373852_88448097 | 88379687 | A | AATATATA others(12): Show |
intron_variant | MODIFIER | HG01891.hp1 NA18906.hp2 |
a0001a0009 | a0001c0001a0009c0010 | a0001c0001t0001a0009c0010t0002 | a0001c0001t0001g0172 a0009c0010t0002g0006 |
2 | 51 | 0.0392 | 19 | 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 | 88379912 | T | TATATAAA others(12): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01167.hp2 HG01169.hp1 others(14): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0007 | a0001c0001t0001a0002c0002t0001a0005c0007t0001 | a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 others(14): Show |
17 | 158 | 0.1076 | 19 | c.199 others(34): Show |
HERC6 | ENSG00000138642.16 | transcript | ENST00000264346.12 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |