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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
H2AC15_chr6_27832880_27843375 | 27832890 | T | TTTTTTTT others(14): Show |
downstream_gene_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0000 | 1 | 408 | 0.0025 | 21 | c.*50 others(32): Show |
H2AC15 | ENSG00000275221.2 | transcript | ENST00000618958.2 | protein_coding | 4989 | chr6 | TogoVar | |||||||
H2AC4_chr6_26028092_26038618 | 26031178 | A | ATATATAT others(14): Show |
downstream_gene_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0000 | 1 | 406 | 0.0025 | 21 | c.*19 others(32): Show |
H2AC4 | ENSG00000278463.2 | transcript | ENST00000615868.2 | protein_coding | 1913 | chr6 | TogoVar | |||||||
H3-3B_chr17_75771434_75784779 | 75782239 | A | ATTTTTTT others(14): Show |
upstream_gene_variant | MODIFIER | HG02886.hp1 NA18522.hp1 NA18522.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0002 a0001c0001t0003g0006 |
4 | 432 | 0.0093 | 21 | c.-26 others(32): Show |
H3-3B | ENSG00000132475.10 | transcript | ENST00000254810.8 | protein_coding | 2461 | chr17 | TogoVar | |||||||
H3-7_chr1_143900510_143910977 | 143903200 | A | AAAAAAAA others(14): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0000 | 1 | 300 | 0.0033 | 21 | c.*23 others(32): Show |
H3-7 | ENSG00000273213.4 | transcript | ENST00000392948.5 | protein_coding | 2309 | chr1 | TogoVar | |||||||
H3C11_chr6_27866845_27877346 | 27875500 | A | ATTTTTTT others(14): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 HG03139.hp1 HG03486.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0000 | 3 | 374 | 0.0080 | 21 | c.-31 others(32): Show |
H3C11 | ENSG00000275379.2 | transcript | ENST00000616365.2 | protein_coding | 3155 | chr6 | TogoVar | |||||||
H3C2_chr6_26026589_26037099 | 26031178 | A | ATATATAT others(14): Show |
downstream_gene_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 396 | 0.0025 | 21 | c.*47 others(30): Show |
H3C2 | ENSG00000286522.2 | transcript | ENST00000621411.3 | protein_coding | 410 | chr6 | TogoVar | |||||||
H4C12_chr6_27826174_27836560 | 27832868 | A | ATTTTTTT others(14): Show |
upstream_gene_variant | MODIFIER | NA18962.hp1 NA18994.hp1 NA19011.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 5 | 419 | 0.0119 | 21 | c.-13 others(32): Show |
H4C12 | ENSG00000273542.2 | transcript | ENST00000611927.2 | protein_coding | 1309 | chr6 | TogoVar | |||||||
H4C12_chr6_27826174_27836560 | 27832890 | T | TTTTTTTT others(14): Show |
upstream_gene_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 419 | 0.0024 | 21 | c.-13 others(32): Show |
H4C12 | ENSG00000273542.2 | transcript | ENST00000611927.2 | protein_coding | 1331 | chr6 | TogoVar | |||||||
H4C13_chr6_27868148_27878534 | 27875500 | A | ATTTTTTT others(14): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 HG03139.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 384 | 0.0078 | 21 | c.-19 others(32): Show |
H4C13 | ENSG00000275126.2 | transcript | ENST00000618305.2 | protein_coding | 1967 | chr6 | TogoVar | |||||||
H4C14_chr1_149827657_149838052 | 149827857 | C | CTTTCTTT others(14): Show |
upstream_gene_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 236 | 0.0042 | 21 | c.-48 others(32): Show |
H4C14 | ENSG00000270882.3 | transcript | ENST00000578186.3 | protein_coding | 4799 | chr1 | TogoVar | |||||||
H4C14_chr1_149827657_149838052 | 149827864 | C | CTTTCTTT others(14): Show |
upstream_gene_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 236 | 0.0042 | 21 | c.-48 others(32): Show |
H4C14 | ENSG00000270882.3 | transcript | ENST00000578186.3 | protein_coding | 4792 | chr1 | TogoVar | |||||||
H4C2_chr6_26021896_26032283 | 26031178 | A | ATATATAT others(14): Show |
upstream_gene_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 400 | 0.0025 | 21 | c.-39 others(32): Show |
H4C2 | ENSG00000278705.3 | transcript | ENST00000377745.5 | protein_coding | 3896 | chr6 | TogoVar | |||||||
HACD2_chr3_123486554_123590053 | 123542146 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02970.hp1 HG03471.hp1 |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0068 a0001c0002t0005g0069 |
2 | 350 | 0.0057 | 21 | c.293 others(40): Show |
HACD2 | ENSG00000206527.10 | transcript | ENST00000383657.10 | protein_coding | 3/6 | chr3 | TogoVar | |||||||
HADHB_chr2_26239939_26295465 | 26266871 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 290 | 0.0035 | 21 | c.210 others(38): Show |
HADHB | ENSG00000138029.14 | transcript | ENST00000317799.10 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HADHB_chr2_26239939_26295465 | 26285739 | G | GTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01981.hp2 HG02109.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0097 others(7): Show |
10 | 290 | 0.0345 | 21 | c.138 others(38): Show |
HADHB | ENSG00000138029.14 | transcript | ENST00000317799.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HAGH_chr16_1802629_1831825 | 1820036 | T | TGGGCTGC others(14): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02647.hp2 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0004g0281 |
3 | 436 | 0.0069 | 21 | c.315 others(34): Show |
HAGH | ENSG00000063854.13 | transcript | ENST00000397356.8 | protein_coding | 3/8 | chr16 | TogoVar | |||||||
HAGH_chr16_1802629_1831825 | 1830944 | A | ACACACAC others(14): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 HG00738.hp2 HG01891.hp1 others(11): Show |
a0001a0007 | a0001c0001a0001c0003a0007c0019 | a0001c0001t0003a0001c0003t0003a0007c0019t0003 | a0001c0001t0003g0002 a0001c0001t0003g0098 a0001c0001t0003g0104 others(10): Show |
14 | 436 | 0.0321 | 21 | c.-41 others(32): Show |
HAGH | ENSG00000063854.13 | transcript | ENST00000397356.8 | protein_coding | 4120 | chr16 | TogoVar | |||||||
HAL_chr12_95967662_96001344 | 95971936 | C | CTTTTTTT others(14): Show |
downstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0034 | 1 | 418 | 0.0024 | 21 | c.*22 others(32): Show |
HAL | ENSG00000084110.11 | transcript | ENST00000261208.8 | protein_coding | 725 | chr12 | TogoVar | |||||||
HAP1_chr17_41717640_41739643 | 41730113 | G | GAAAAGAA others(14): Show |
intron_variant | MODIFIER | HG02257.hp2 HG03195.hp2 |
a0005 | a0005c0005 | a0005c0005t0011 | a0005c0005t0011g0130 a0005c0005t0011g0136 |
2 | 374 | 0.0054 | 21 | c.106 others(40): Show |
HAP1 | ENSG00000173805.16 | transcript | ENST00000347901.9 | protein_coding | 6/10 | chr17 | TogoVar | |||||||
HAPLN2_chr1_156614415_156630725 | 156623033 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG00423.hp1 NA18964.hp2 NA18983.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 a0001c0001t0001g0113 |
3 | 418 | 0.0072 | 21 | c.-24 others(36): Show |
HAPLN2 | ENSG00000132702.13 | transcript | ENST00000255039.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HAPSTR1_chr16_9086644_9126635 | 9088603 | C | CAAAAAAA others(14): Show |
upstream_gene_variant | MODIFIER | HG00642.hp2 HG01099.hp2 HG01358.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0009others(4): Show | a0001c0001t0003g0003 a0001c0001t0003g0128 a0001c0001t0003g0136 others(8): Show |
13 | 398 | 0.0327 | 21 | c.-34 others(32): Show |
HAPSTR1 | ENSG00000182831.12 | transcript | ENST00000327827.12 | protein_coding | 3040 | chr16 | TogoVar | |||||||
HAT1_chr2_171917461_171988686 | 171977557 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 a0001c0001t0001g0162 |
2 | 326 | 0.0061 | 21 | c.975 others(38): 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(14): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 326 | 0.0031 | 21 | c.975 others(38): 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(14): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 326 | 0.0031 | 21 | c.975 others(38): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HAUS2_chr15_42543838_42574994 | 42544838 | C | CTATATAT others(14): Show |
upstream_gene_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0034 | 1 | 350 | 0.0029 | 21 | c.-40 others(32): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 3999 | chr15 | TogoVar | |||||||
HAUS5_chr19_35607735_35630355 | 35625736 | C | CACCTTTG others(14): Show |
downstream_gene_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 430 | 0.0023 | 21 | c.*27 others(32): Show |
HAUS5 | ENSG00000249115.9 | transcript | ENST00000203166.10 | protein_coding | 382 | chr19 | TogoVar | |||||||
HAVCR2_chr5_157080832_157114044 | 157095746 | A | AGCTCTTA others(14): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 | 1 | 380 | 0.0026 | 21 | c.523 others(36): Show |
HAVCR2 | ENSG00000135077.10 | transcript | ENST00000307851.9 | protein_coding | 4/6 | chr5 | TogoVar | |||||||
HAX1_chr1_154267629_154280875 | 154267880 | C | CTTTTTTT others(14): Show |
upstream_gene_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 392 | 0.0026 | 21 | c.-48 others(32): Show |
HAX1 | ENSG00000143575.16 | transcript | ENST00000328703.12 | protein_coding | 4748 | chr1 | TogoVar | |||||||
HAX1_chr1_154267629_154280875 | 154277333 | T | TATATATA others(14): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 HG03098.hp2 HG03471.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0012 others(1): Show |
7 | 392 | 0.0179 | 21 | c.*16 others(32): Show |
HAX1 | ENSG00000143575.16 | transcript | ENST00000328703.12 | protein_coding | 1459 | chr1 | TogoVar | |||||||
HBM_chr16_160978_171764 | 164690 | C | CGCGGGGA others(14): Show |
upstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0001 | 1 | 370 | 0.0027 | 21 | c.-13 others(32): Show |
HBM | ENSG00000206177.7 | transcript | ENST00000356815.4 | protein_coding | 1287 | chr16 | TogoVar | |||||||
HBM_chr16_160978_171764 | 164690 | C | CGCGGGGC others(14): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00423.hp2 others(98): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0002g0001 others(4): Show |
101 | 370 | 0.2730 | 21 | c.-13 others(32): Show |
HBM | ENSG00000206177.7 | transcript | ENST00000356815.4 | protein_coding | 1287 | chr16 | TogoVar | |||||||
HBM_chr16_160978_171764 | 164690 | C | CGCGGGGC others(14): Show |
upstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 370 | 0.0027 | 21 | c.-13 others(32): Show |
HBM | ENSG00000206177.7 | transcript | ENST00000356815.4 | protein_coding | 1287 | chr16 | TogoVar | |||||||
HBM_chr16_160978_171764 | 164759 | G | GGCGGGGT others(14): Show |
upstream_gene_variant | MODIFIER | HG02809.hp2 HG02818.hp1 HG02818.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0002t0001a0001c0007t0001 | a0001c0001t0001g0001 a0001c0002t0001g0001 a0001c0007t0001g0001 |
4 | 370 | 0.0108 | 21 | c.-12 others(32): Show |
HBM | ENSG00000206177.7 | transcript | ENST00000356815.4 | protein_coding | 1218 | chr16 | TogoVar | |||||||
HBM_chr16_160978_171764 | 164942 | G | GCGGGGCG others(14): Show |
upstream_gene_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 370 | 0.0027 | 21 | c.-10 others(32): Show |
HBM | ENSG00000206177.7 | transcript | ENST00000356815.4 | protein_coding | 1035 | chr16 | TogoVar | |||||||
HBP1_chr7_107164003_107207522 | 107171073 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 368 | 0.0027 | 21 | c.-16 others(38): Show |
HBP1 | ENSG00000105856.14 | transcript | ENST00000222574.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HBQ1_chr16_175459_186179 | 186051 | G | GGAGGAAC others(14): Show |
downstream_gene_variant | MODIFIER | HG01192.hp2 HG01243.hp2 HG02698.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0003 | a0001c0001t0002g0001 a0001c0002t0003g0001 |
3 | 384 | 0.0078 | 21 | c.*49 others(32): Show |
HBQ1 | ENSG00000086506.3 | transcript | ENST00000199708.3 | protein_coding | 4873 | chr16 | TogoVar | |||||||
HBQ1_chr16_175459_186179 | 186102 | G | GGAGGAAC others(14): Show |
downstream_gene_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 384 | 0.0026 | 21 | c.*49 others(32): Show |
HBQ1 | ENSG00000086506.3 | transcript | ENST00000199708.3 | protein_coding | 4924 | chr16 | TogoVar | |||||||
HBQ1_chr16_175459_186179 | 186119 | G | GGAGGAAC others(14): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 384 | 0.0026 | 21 | c.*50 others(32): Show |
HBQ1 | ENSG00000086506.3 | transcript | ENST00000199708.3 | protein_coding | 4941 | chr16 | TogoVar | |||||||
HBQ1_chr16_175459_186179 | 186152 | G | GAGGGAGG others(14): Show |
downstream_gene_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 384 | 0.0026 | 21 | c.*50 others(32): Show |
HBQ1 | ENSG00000086506.3 | transcript | ENST00000199708.3 | protein_coding | 4974 | chr16 | TogoVar | |||||||
HBS1L_chr6_134955378_135059822 | 135027187 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0081 | 1 | 348 | 0.0029 | 21 | c.430 others(40): Show |
HBS1L | ENSG00000112339.15 | transcript | ENST00000367837.10 | protein_coding | 4/17 | chr6 | TogoVar | |||||||
HBZ_chr16_147644_159503 | 154100 | C | CGCGGGGC others(14): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00544.hp1 others(193): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(28): Show |
196 | 432 | 0.4537 | 21 | c.300 others(34): Show |
HBZ | ENSG00000130656.6 | transcript | ENST00000252951.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
HBZ_chr16_147644_159503 | 154121 | G | GGCGGGGC others(14): Show |
intron_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 432 | 0.0023 | 21 | c.300 others(34): Show |
HBZ | ENSG00000130656.6 | transcript | ENST00000252951.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
HBZ_chr16_147644_159503 | 154126 | G | GGCGCGGT others(14): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(36): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0002 | a0001c0001t0001g0004 a0001c0001t0001g0026 a0001c0001t0001g0027 others(7): Show |
39 | 432 | 0.0903 | 21 | c.300 others(34): Show |
HBZ | ENSG00000130656.6 | transcript | ENST00000252951.3 | protein_coding | 2/2 | chr16 | TogoVar | |||||||
HCAR2_chr12_122696293_122708357 | 122704416 | A | ATTTTTTT others(14): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 HG00609.hp1 HG00609.hp2 others(61): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0002a0001c0001t0012a0001c0001t0016others(1): Show | a0001c0001t0002g0000 a0001c0001t0012g0000 a0001c0001t0016g0000 others(1): Show |
64 | 428 | 0.1495 | 21 | c.-11 others(32): Show |
HCAR2 | ENSG00000182782.8 | transcript | ENST00000328880.6 | protein_coding | 1060 | chr12 | TogoVar | |||||||
HCK_chr20_32047242_32106856 | 32066331 | T | TTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0254 | 1 | 290 | 0.0035 | 21 | c.63- others(36): Show |
HCK | ENSG00000101336.18 | transcript | ENST00000375852.5 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
HCK_chr20_32047242_32106856 | 32094705 | A | AAAAGAAA others(14): Show |
intron_variant | MODIFIER | HG01255.hp2 NA18954.hp1 NA18965.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 a0001c0001t0001g0046 a0001c0001t0001g0111 others(2): Show |
5 | 290 | 0.0172 | 21 | c.124 others(38): Show |
HCK | ENSG00000101336.18 | transcript | ENST00000375852.5 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
HCN1_chr5_45249948_45701380 | 45534404 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0226 | 1 | 226 | 0.0044 | 21 | c.850 others(40): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 2/7 | chr5 | TogoVar | |||||||
HCN2_chr19_584881_622159 | 616132 | C | CCCCGCCA others(14): Show |
disruptive_inframe_insertion | MODERATE | HG01981.hp2 HG02273.hp1 |
a0007 | a0007c0092a0007c0103 | a0007c0092t0001a0007c0103t0001 | a0007c0092t0001g0123 a0007c0103t0001g0393 |
2 | 408 | 0.0049 | 21 | c.234 others(30): Show |
p.Pro others(13): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 8/8 | 2428/3420 | 2363/2670 | 788/889 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
HCN2_chr19_584881_622159 | 620966 | G | GGGGCGCG others(14): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 HG01123.hp2 HG01243.hp1 others(20): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0006others(12): Show | a0001c0001t0002a0001c0003t0002a0001c0006t0002others(15): Show | a0001c0001t0002g0055 a0001c0001t0002g0169 a0001c0003t0002g0219 others(19): Show |
23 | 408 | 0.0564 | 21 | c.*44 others(32): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 3808 | chr19 | TogoVar | |||||||
HCN4_chr15_73314859_73373958 | 73316252 | A | ATATATAT others(14): Show |
downstream_gene_variant | MODIFIER | HG00733.hp2 HG02165.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0009 | a0001c0001t0002g0010 a0001c0003t0009g0239 |
2 | 344 | 0.0058 | 21 | c.*62 others(32): Show |
HCN4 | ENSG00000138622.4 | transcript | ENST00000261917.4 | protein_coding | 3606 | chr15 | TogoVar |