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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HPGD_chr4_174485175_174527488 | 174497568 | C | CTTTCTTT others(8): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0097 | 1 | 414 | 0.0024 | 15 | c.422 others(32): Show |
HPGD | ENSG00000164120.14 | transcript | ENST00000296522.11 | protein_coding | 4/6 | chr4 | TogoVar | |||||||
HPGD_chr4_174485175_174527488 | 174497568 | C | CTTTTCTT others(8): Show |
intron_variant | MODIFIER | HG01891.hp1 NA18906.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0004 | a0001c0001t0004g0218 a0001c0002t0004g0136 |
2 | 414 | 0.0048 | 15 | c.422 others(32): Show |
HPGD | ENSG00000164120.14 | transcript | ENST00000296522.11 | protein_coding | 4/6 | chr4 | TogoVar | |||||||
HPGD_chr4_174485175_174527488 | 174497568 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01099.hp2 HG01123.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0005a0001c0002t0003 | a0001c0001t0003g0293 a0001c0001t0005g0161 a0001c0001t0005g0170 others(2): Show |
5 | 414 | 0.0121 | 15 | c.422 others(32): Show |
HPGD | ENSG00000164120.14 | transcript | ENST00000296522.11 | protein_coding | 4/6 | chr4 | TogoVar | |||||||
HPN_chr19_35036721_35071573 | 35048028 | A | AGAAAGAA others(8): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 | 1 | 384 | 0.0026 | 15 | c.17- others(30): Show |
HPN | ENSG00000105707.15 | transcript | ENST00000672452.2 | protein_coding | 2/12 | chr19 | TogoVar | |||||||
HPS5_chr11_18273676_18327140 | 18302831 | G | GGGAGGGG others(8): Show |
intron_variant | MODIFIER | HG01167.hp2 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0024 a0001c0003t0001g0026 |
2 | 372 | 0.0054 | 15 | c.897 others(32): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | TogoVar | |||||||
HPS5_chr11_18273676_18327140 | 18302831 | G | GGGGGGGG others(8): Show |
intron_variant | MODIFIER | HG03492.hp2 NA18522.hp1 NA18993.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0001a0001c0003t0009 | a0001c0001t0002g0279 a0001c0003t0001g0032 a0001c0003t0001g0033 others(2): Show |
5 | 372 | 0.0134 | 15 | c.897 others(32): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | TogoVar | |||||||
HPSE2_chr10_98452077_99240852 | 98600924 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 142 | 0.0070 | 15 | c.132 others(36): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 9/11 | chr10 | TogoVar | |||||||
HPSE2_chr10_98452077_99240852 | 98600926 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00673.hp2 HG01993.hp2 others(2): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0001a0001c0001t0004a0002c0002t0002others(2): Show | a0001c0001t0001g0009 a0001c0001t0004g0115 a0002c0002t0002g0041 others(2): Show |
5 | 142 | 0.0352 | 15 | c.132 others(36): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 9/11 | chr10 | TogoVar | |||||||
HPSE2_chr10_98452077_99240852 | 98688465 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00597.hp2 HG00639.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0034 others(6): Show |
9 | 142 | 0.0634 | 15 | c.100 others(34): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
HPSE2_chr10_98452077_99240852 | 98778297 | A | AGAGAGAG others(8): Show |
intron_variant | MODIFIER | HG00323.hp1 HG02055.hp1 HG02258.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0014a0001c0001t0025a0002c0002t0002 | a0001c0001t0014g0136 a0001c0001t0025g0130 a0002c0002t0002g0041 |
3 | 142 | 0.0211 | 15 | c.611 others(34): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 3/11 | chr10 | TogoVar | |||||||
HPSE2_chr10_98452077_99240852 | 99026615 | T | TCTGAAAA others(8): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01081.hp1 HG01109.hp2 others(26): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0011 a0001c0001t0001g0065 a0001c0001t0001g0072 others(26): Show |
29 | 142 | 0.2042 | 15 | c.610 others(36): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 3/11 | chr10 | TogoVar | |||||||
HPSE2_chr10_98452077_99240852 | 99086346 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00673.hp1 HG01981.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0009a0002c0002t0002 | a0001c0001t0001g0014 a0001c0001t0009g0122 a0002c0002t0002g0017 others(2): Show |
5 | 142 | 0.0352 | 15 | c.610 others(34): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 3/11 | chr10 | TogoVar | |||||||
HPSE2_chr10_98452077_99240852 | 99094540 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG02895.hp1 NA18962.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 a0001c0001t0001g0117 |
2 | 142 | 0.0141 | 15 | c.610 others(34): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 3/11 | chr10 | TogoVar | |||||||
HPSE2_chr10_98452077_99240852 | 99094540 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0121 | 1 | 142 | 0.0070 | 15 | c.610 others(34): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 3/11 | chr10 | TogoVar | |||||||
HPSE2_chr10_98452077_99240852 | 99112415 | G | GTGTTTTG others(8): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0124 | 1 | 142 | 0.0070 | 15 | c.610 others(34): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 3/11 | chr10 | TogoVar | |||||||
HPSE2_chr10_98452077_99240852 | 99132146 | G | GAAGAAGA others(8): Show |
intron_variant | MODIFIER | HG01993.hp1 NA18965.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0023 a0002c0002t0002g0016 |
2 | 142 | 0.0141 | 15 | c.610 others(34): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 3/11 | chr10 | TogoVar | |||||||
HPSE2_chr10_98452077_99240852 | 99181421 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0002 | a0002c0002 | a0002c0002t0015 | a0002c0002t0015g0002 | 1 | 142 | 0.0070 | 15 | c.449 others(34): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 2/11 | chr10 | TogoVar | |||||||
HRAS_chr11_527242_540576 | 533821 | G | GGAAGCCC others(8): Show |
conservative_inframe_insertion | MODERATE | HG03098.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0025 | 1 | 397 | 0.0025 | 15 | c.220 others(22): Show |
p.Phe others(26): Show |
HRAS | ENSG00000174775.18 | transcript | ENST00000311189.8 | protein_coding | 3/6 | 448/1070 | 234/570 | 78/189 | chr11 | TogoVar | |||
HRCT1_chr9_35901202_35912136 | 35906563 | C | CCCCCACC others(8): Show |
disruptive_inframe_insertion | MODERATE | NA19080.hp2 | a0060 | a0060c0052 | a0060c0052t0001 | a0060c0052t0001g0000 | 1 | 430 | 0.0023 | 15 | c.280 others(22): Show |
p.Pro others(26): Show |
HRCT1 | ENSG00000196196.3 | transcript | ENST00000354323.3 | protein_coding | 1/1 | 367/935 | 281/348 | 94/115 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
HRCT1_chr9_35901202_35912136 | 35906578 | T | TCACCACC others(8): Show |
disruptive_inframe_insertion | MODERATE | HG01074.hp2 HG06807.hp1 |
a0023 | a0023c0037 | a0023c0037t0001 | a0023c0037t0001g0000 | 2 | 430 | 0.0047 | 15 | c.299 others(22): Show |
p.Leu others(13): Show |
HRCT1 | ENSG00000196196.3 | transcript | ENST00000354323.3 | protein_coding | 1/1 | 400/935 | 314/348 | 105/115 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
HRCT1_chr9_35901202_35912136 | 35906586 | T | TCCACCAC others(8): Show |
disruptive_inframe_insertion | MODERATE | HG02451.hp2 HG02630.hp2 HG02922.hp2 others(1): Show |
a0027a0040a0044 | a0027c0029a0040c0041a0044c0046 | a0027c0029t0001a0040c0041t0001a0044c0046t0001 | a0027c0029t0001g0000 a0040c0041t0001g0000 a0044c0046t0001g0000 |
4 | 430 | 0.0093 | 15 | c.302 others(22): Show |
p.His others(13): Show |
HRCT1 | ENSG00000196196.3 | transcript | ENST00000354323.3 | protein_coding | 1/1 | 403/935 | 317/348 | 106/115 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
HRCT1_chr9_35901202_35912136 | 35906586 | T | TCCACCTC others(8): Show |
disruptive_inframe_insertion | MODERATE | HG02818.hp1 | a0045 | a0045c0078 | a0045c0078t0001 | a0045c0078t0001g0000 | 1 | 430 | 0.0023 | 15 | c.304 others(22): Show |
p.His others(28): Show |
HRCT1 | ENSG00000196196.3 | transcript | ENST00000354323.3 | protein_coding | 1/1 | 391/935 | 305/348 | 102/115 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
HRCT1_chr9_35901202_35912136 | 35906589 | A | ACCACCAC others(8): Show |
disruptive_inframe_insertion | MODERATE | HG02109.hp1 HG02451.hp1 |
a0025 | a0025c0034 | a0025c0034t0001 | a0025c0034t0001g0000 | 2 | 430 | 0.0047 | 15 | c.308 others(22): Show |
p.His others(13): Show |
HRCT1 | ENSG00000196196.3 | transcript | ENST00000354323.3 | protein_coding | 1/1 | 409/935 | 323/348 | 108/115 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
HRCT1_chr9_35901202_35912136 | 35906595 | A | ACCACCAC others(8): Show |
disruptive_inframe_insertion | MODERATE | HG03139.hp1 | a0022 | a0022c0068 | a0022c0068t0001 | a0022c0068t0001g0000 | 1 | 430 | 0.0023 | 15 | c.315 others(22): Show |
p.His others(28): Show |
HRCT1 | ENSG00000196196.3 | transcript | ENST00000354323.3 | protein_coding | 1/1 | 416/935 | 330/348 | 110/115 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
HRCT1_chr9_35901202_35912136 | 35906602 | C | CCCCCACC others(8): Show |
disruptive_inframe_insertion | MODERATE | HG02622.hp1 HG02818.hp2 |
a0022 | a0022c0035 | a0022c0035t0001 | a0022c0035t0001g0000 | 2 | 430 | 0.0047 | 15 | c.320 others(22): Show |
p.His others(13): Show |
HRCT1 | ENSG00000196196.3 | transcript | ENST00000354323.3 | protein_coding | 1/1 | 421/935 | 335/348 | 112/115 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
HRH1_chr3_11149493_11268557 | 11164513 | G | GTGTTTTG others(8): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02055.hp1 HG02486.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0130 a0001c0001t0002g0065 a0001c0001t0002g0068 others(10): Show |
13 | 352 | 0.0369 | 15 | c.-36 others(32): Show |
HRH1 | ENSG00000196639.7 | transcript | ENST00000431010.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
HRH1_chr3_11149493_11268557 | 11268006 | T | TCTCTCTC others(8): Show |
downstream_gene_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 352 | 0.0028 | 15 | c.*75 others(26): Show |
HRH1 | ENSG00000196639.7 | transcript | ENST00000431010.3 | protein_coding | 4450 | chr3 | TogoVar | |||||||
HRH3_chr20_62209960_62225278 | 62213030 | G | GGGAGGAG others(8): Show |
downstream_gene_variant | MODIFIER | NA19006.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 368 | 0.0027 | 15 | c.*29 others(26): Show |
HRH3 | ENSG00000101180.17 | transcript | ENST00000340177.10 | protein_coding | 1929 | chr20 | TogoVar | |||||||
HRH4_chr18_24455637_24484961 | 24460381 | C | CAACAACA others(8): Show |
upstream_gene_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0174 | 1 | 424 | 0.0024 | 15 | c.-34 others(24): Show |
HRH4 | ENSG00000134489.7 | transcript | ENST00000256906.5 | protein_coding | 255 | chr18 | TogoVar | |||||||
HRK_chr12_116851144_116886441 | 116871092 | T | TTTTTGTT others(8): Show |
intron_variant | MODIFIER | HG03041.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0027 | 2 | 366 | 0.0055 | 15 | c.*57 others(32): Show |
HRK | ENSG00000135116.9 | transcript | ENST00000257572.5 | protein_coding | 1/1 | chr12 | TogoVar | |||||||
HS1BP3_chr2_20612818_20656098 | 20625854 | T | TAAGTGAT others(8): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0291 | 1 | 404 | 0.0025 | 15 | c.624 others(30): Show |
HS1BP3 | ENSG00000118960.13 | transcript | ENST00000304031.8 | protein_coding | 4/6 | chr2 | TogoVar | |||||||
HS2ST1_chr1_86909635_87114982 | 86990837 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02897.hp1 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0018a0001c0001t0023 | a0001c0001t0001g0064 a0001c0001t0018g0103 a0001c0001t0023g0086 |
3 | 154 | 0.0195 | 15 | c.124 others(34): Show |
HS2ST1 | ENSG00000153936.18 | transcript | ENST00000370550.10 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
HS3ST1_chr4_11388150_11433894 | 11429643 | C | CTTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG01071.hp1 HG01981.hp2 HG03453.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0044 | a0001c0001t0001g0022 a0001c0001t0001g0043 a0001c0001t0006g0265 others(2): Show |
5 | 440 | 0.0114 | 15 | c.-10 others(26): Show |
HS3ST1 | ENSG00000002587.10 | transcript | ENST00000002596.6 | protein_coding | 750 | chr4 | TogoVar | |||||||
HS3ST2_chr16_22809162_22921338 | 22818786 | T | TTCCCTCC others(8): Show |
intron_variant | MODIFIER | HG02109.hp1 HG03710.hp1 NA18993.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0150 a0001c0002t0001g0064 a0001c0002t0001g0067 others(1): Show |
4 | 350 | 0.0114 | 15 | c.485 others(32): Show |
HS3ST2 | ENSG00000122254.7 | transcript | ENST00000261374.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
HS3ST2_chr16_22809162_22921338 | 22818919 | T | TTCCCTCC others(8): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0284 | 1 | 350 | 0.0029 | 15 | c.485 others(32): Show |
HS3ST2 | ENSG00000122254.7 | transcript | ENST00000261374.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
HS3ST2_chr16_22809162_22921338 | 22819082 | C | CCTTCCTT others(8): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00609.hp2 others(46): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0007others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0161 a0001c0001t0001g0223 others(46): Show |
49 | 350 | 0.1400 | 15 | c.485 others(32): Show |
HS3ST2 | ENSG00000122254.7 | transcript | ENST00000261374.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
HS3ST2_chr16_22809162_22921338 | 22855729 | T | TCTCTCTC others(8): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0006 | a0006c0013 | a0006c0013t0002 | a0006c0013t0002g0263 | 1 | 350 | 0.0029 | 15 | c.485 others(34): Show |
HS3ST2 | ENSG00000122254.7 | transcript | ENST00000261374.4 | protein_coding | 1/1 | chr16 | TogoVar | |||||||
HS3ST2_chr16_22809162_22921338 | 22913148 | A | AAGGAAGG others(8): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0093 | 1 | 350 | 0.0029 | 15 | c.486 others(32): Show |
HS3ST2 | ENSG00000122254.7 | transcript | ENST00000261374.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
HS3ST3A1_chr17_13489032_13606929 | 13534547 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA19054.hp1 | a0002 | a0002c0004 | a0002c0004t0012 | a0002c0004t0012g0276 | 1 | 338 | 0.0030 | 15 | c.600 others(34): Show |
HS3ST3A1 | ENSG00000153976.3 | transcript | ENST00000284110.2 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
HS3ST3A1_chr17_13489032_13606929 | 13556514 | G | GAAATAAA others(8): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01109.hp2 HG01516.hp1 others(50): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0006others(8): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(33): Show | a0001c0001t0002g0101 a0001c0001t0003g0172 a0001c0001t0006g0182 others(50): Show |
53 | 338 | 0.1568 | 15 | c.599 others(34): Show |
HS3ST3A1 | ENSG00000153976.3 | transcript | ENST00000284110.2 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
HS3ST3A1_chr17_13489032_13606929 | 13560289 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01069.hp1 HG01069.hp2 others(29): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(14): Show | a0001c0001t0002g0094 a0001c0001t0002g0128 a0001c0001t0002g0160 others(29): Show |
32 | 338 | 0.0947 | 15 | c.599 others(34): Show |
HS3ST3A1 | ENSG00000153976.3 | transcript | ENST00000284110.2 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
HS3ST3A1_chr17_13489032_13606929 | 13585186 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | NA18953.hp2 | a0002 | a0002c0004 | a0002c0004t0015 | a0002c0004t0015g0291 | 1 | 338 | 0.0030 | 15 | c.599 others(34): Show |
HS3ST3A1 | ENSG00000153976.3 | transcript | ENST00000284110.2 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
HS3ST3B1_chr17_14296081_14354404 | 14329315 | G | GAGAAGAA others(8): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01069.hp2 |
a0001a0004 | a0001c0002a0004c0005 | a0001c0002t0035a0004c0005t0092 | a0001c0002t0035g0312 a0004c0005t0092g0164 |
2 | 432 | 0.0046 | 15 | c.555 others(34): Show |
HS3ST3B1 | ENSG00000125430.9 | transcript | ENST00000360954.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
HS3ST3B1_chr17_14296081_14354404 | 14329366 | A | AAAGAAAG others(8): Show |
intron_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0002 | a0001c0002t0018 | a0001c0002t0018g0039 | 1 | 432 | 0.0023 | 15 | c.555 others(34): Show |
HS3ST3B1 | ENSG00000125430.9 | transcript | ENST00000360954.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
HS3ST3B1_chr17_14296081_14354404 | 14329367 | A | AAGAAAGA others(8): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0088 | a0001c0001t0088g0327 | 1 | 432 | 0.0023 | 15 | c.555 others(34): Show |
HS3ST3B1 | ENSG00000125430.9 | transcript | ENST00000360954.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
HS3ST4_chr16_25686959_26142685 | 25903302 | G | GTATATAT others(8): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0106 | 1 | 164 | 0.0061 | 15 | c.734 others(36): Show |
HS3ST4 | ENSG00000182601.7 | transcript | ENST00000331351.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
HS3ST4_chr16_25686959_26142685 | 26137660 | T | TTGTTATA others(8): Show |
3_prime_UTR_variant | MODIFIER | HG00609.hp1 NA18966.hp2 NA18993.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0017a0001c0001t0034others(2): Show | a0001c0001t0011g0145 a0001c0001t0011g0147 a0001c0001t0017g0092 others(3): Show |
6 | 164 | 0.0366 | 15 | c.*14 others(26): Show |
HS3ST4 | ENSG00000182601.7 | transcript | ENST00000331351.6 | protein_coding | 2/2 | 1430 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
HS3ST5_chr6_114050596_114348023 | 114156468 | A | AACATATT others(8): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0198 | 1 | 206 | 0.0049 | 15 | c.-33 others(34): Show |
HS3ST5 | ENSG00000249853.9 | transcript | ENST00000312719.10 | protein_coding | 3/4 | chr6 | TogoVar | |||||||
HS6ST2_chrX_132621015_132963629 | 132724137 | A | AAAAAGAA others(8): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0082 | 1 | 201 | 0.0050 | 15 | c.948 others(34): Show |
HS6ST2 | ENSG00000171004.19 | transcript | ENST00000370833.7 | protein_coding | 2/4 | chrX | TogoVar | |||||||
HS6ST2_chrX_132621015_132963629 | 132794574 | G | GATGATGA others(8): Show |
intron_variant | MODIFIER | HG03195.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0027 a0001c0001t0002g0179 |
2 | 201 | 0.0100 | 15 | c.948 others(34): Show |
HS6ST2 | ENSG00000171004.19 | transcript | ENST00000370833.7 | protein_coding | 2/4 | chrX | TogoVar |