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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HS6ST2_chrX_132621015_132963629 | 132794574 | G | GATGATGA others(8): Show |
intron_variant | MODIFIER | NA18962.hp1 NA19086.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 a0001c0001t0001g0105 |
2 | 201 | 0.0100 | 15 | c.948 others(34): Show |
HS6ST2 | ENSG00000171004.19 | transcript | ENST00000370833.7 | protein_coding | 2/4 | chrX | TogoVar | |||||||
HS6ST2_chrX_132621015_132963629 | 132812405 | A | AAATAATA others(8): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00738.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0021 a0001c0001t0001g0032 a0001c0001t0002g0030 others(8): Show |
11 | 201 | 0.0547 | 15 | c.948 others(36): Show |
HS6ST2 | ENSG00000171004.19 | transcript | ENST00000370833.7 | protein_coding | 2/4 | chrX | TogoVar | |||||||
HS6ST2_chrX_132621015_132963629 | 132823853 | A | AAATAATA others(8): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01516.hp2 HG02572.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 others(8): Show |
11 | 201 | 0.0547 | 15 | c.948 others(36): Show |
HS6ST2 | ENSG00000171004.19 | transcript | ENST00000370833.7 | protein_coding | 2/4 | chrX | TogoVar | |||||||
HS6ST3_chr13_96085107_96844562 | 96122110 | G | GTATTATT others(8): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01106.hp2 HG01361.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0005 a0001c0001t0001g0041 a0001c0001t0001g0065 others(8): Show |
11 | 116 | 0.0948 | 15 | c.707 others(34): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
HS6ST3_chr13_96085107_96844562 | 96139541 | G | GCAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0106 | 1 | 116 | 0.0086 | 15 | c.707 others(34): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | chr13 | TogoVar | |||||||
HS6ST3_chr13_96085107_96844562 | 96440502 | A | AGGAAAGG others(8): Show |
intron_variant | MODIFIER | HG02486.hp2 HG06807.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0005g0085 |
3 | 116 | 0.0259 | 15 | c.707 others(36): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
HS6ST3_chr13_96085107_96844562 | 96459100 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0060 | 1 | 116 | 0.0086 | 15 | c.707 others(36): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
HS6ST3_chr13_96085107_96844562 | 96510086 | T | TTTTTATT others(8): Show |
intron_variant | MODIFIER | HG03130.hp1 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0107 a0001c0001t0013g0108 |
2 | 116 | 0.0172 | 15 | c.708 others(36): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
HS6ST3_chr13_96085107_96844562 | 96658268 | C | CTTCTTTT others(8): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 116 | 0.0086 | 15 | c.708 others(36): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
HS6ST3_chr13_96085107_96844562 | 96658268 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03139.hp1 HG04204.hp2 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0033 | a0001c0001t0009g0059 a0001c0001t0009g0084 a0001c0001t0033g0044 |
3 | 116 | 0.0259 | 15 | c.708 others(36): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
HS6ST3_chr13_96085107_96844562 | 96688213 | T | TATAATAA others(8): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01074.hp1 HG02647.hp1 others(8): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0077 a0001c0001t0002g0045 a0001c0001t0002g0079 others(8): Show |
11 | 116 | 0.0948 | 15 | c.708 others(36): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
HS6ST3_chr13_96085107_96844562 | 96689803 | C | CAAGAAAT others(8): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00438.hp1 others(106): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0005 a0001c0001t0001g0022 a0001c0001t0001g0023 others(106): Show |
109 | 116 | 0.9397 | 15 | c.708 others(36): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
HS6ST3_chr13_96085107_96844562 | 96831954 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02895.hp2 NA18947.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0003 | a0001c0001t0002g0115 a0001c0004t0003g0104 |
2 | 116 | 0.0172 | 15 | c.708 others(30): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
HSBP1_chr16_83802978_83824737 | 83820760 | T | TCTCTCTC others(8): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0100 | a0001c0001t0004g0012 a0001c0001t0100g0019 |
2 | 468 | 0.0043 | 15 | c.*93 others(26): Show |
HSBP1 | ENSG00000230989.8 | transcript | ENST00000433866.7 | protein_coding | 1024 | chr16 | TogoVar | |||||||
HSCB_chr22_28737039_28762510 | 28750945 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02083.hp1 HG02698.hp1 HG03831.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 a0001c0001t0001g0148 a0001c0001t0001g0156 others(3): Show |
6 | 410 | 0.0146 | 15 | c.569 others(30): Show |
HSCB | ENSG00000100209.11 | transcript | ENST00000216027.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
HSD11B1_chr1_209699846_209739929 | 209719019 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00558.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0030 others(18): Show |
28 | 400 | 0.0700 | 15 | c.517 others(34): Show |
HSD11B1 | ENSG00000117594.10 | transcript | ENST00000367027.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HSD17B11_chr4_87331515_87396188 | 87335918 | A | ATTTTTTT others(8): Show |
downstream_gene_variant | MODIFIER | HG02258.hp1 HG02976.hp2 HG03130.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0135 a0001c0001t0007g0136 a0001c0001t0007g0137 others(1): Show |
4 | 390 | 0.0103 | 15 | c.*13 others(26): Show |
HSD17B11 | ENSG00000198189.11 | transcript | ENST00000358290.9 | protein_coding | 596 | chr4 | TogoVar | |||||||
HSD17B11_chr4_87331515_87396188 | 87357949 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0261 | 1 | 390 | 0.0026 | 15 | c.558 others(30): Show |
HSD17B11 | ENSG00000198189.11 | transcript | ENST00000358290.9 | protein_coding | 4/6 | chr4 | TogoVar | |||||||
HSD17B11_chr4_87331515_87396188 | 87380863 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00609.hp2 HG04228.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0196 a0001c0001t0015g0080 |
2 | 390 | 0.0051 | 15 | c.318 others(32): Show |
HSD17B11 | ENSG00000198189.11 | transcript | ENST00000358290.9 | protein_coding | 2/6 | chr4 | TogoVar | |||||||
HSD17B12_chr11_43675738_43861615 | 43690390 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 280 | 0.0036 | 15 | c.160 others(32): Show |
HSD17B12 | ENSG00000149084.13 | transcript | ENST00000278353.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HSD17B12_chr11_43675738_43861615 | 43690392 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0267 | 1 | 280 | 0.0036 | 15 | c.160 others(32): Show |
HSD17B12 | ENSG00000149084.13 | transcript | ENST00000278353.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HSD17B12_chr11_43675738_43861615 | 43690402 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0206 | 1 | 280 | 0.0036 | 15 | c.160 others(32): Show |
HSD17B12 | ENSG00000149084.13 | transcript | ENST00000278353.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HSD17B12_chr11_43675738_43861615 | 43690404 | A | ATATTTTT others(8): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0012 | 1 | 280 | 0.0036 | 15 | c.160 others(32): Show |
HSD17B12 | ENSG00000149084.13 | transcript | ENST00000278353.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HSD17B12_chr11_43675738_43861615 | 43690404 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG03540.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0258 |
2 | 280 | 0.0071 | 15 | c.160 others(32): Show |
HSD17B12 | ENSG00000149084.13 | transcript | ENST00000278353.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HSD17B12_chr11_43675738_43861615 | 43766225 | C | CAATTAGT others(8): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0234 a0001c0003t0003g0235 |
2 | 280 | 0.0071 | 15 | c.283 others(34): Show |
HSD17B12 | ENSG00000149084.13 | transcript | ENST00000278353.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HSD17B12_chr11_43675738_43861615 | 43810403 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03139.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0172 a0002c0002t0002g0263 |
2 | 280 | 0.0071 | 15 | c.392 others(32): Show |
HSD17B12 | ENSG00000149084.13 | transcript | ENST00000278353.10 | protein_coding | 4/10 | chr11 | TogoVar | |||||||
HSD17B13_chr4_87298794_87327882 | 87317563 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02818.hp1 HG02886.hp1 HG03942.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0264 a0001c0001t0005g0098 a0001c0001t0005g0099 |
3 | 442 | 0.0068 | 15 | c.319 others(30): Show |
HSD17B13 | ENSG00000170509.12 | transcript | ENST00000328546.5 | protein_coding | 2/6 | chr4 | TogoVar | |||||||
HSD17B14_chr19_48808018_48841491 | 48811494 | C | CAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG01168.hp1 HG01168.hp2 |
a0002 | a0002c0002a0002c0003 | a0002c0002t0001a0002c0003t0001 | a0002c0002t0001g0329 a0002c0003t0001g0372 |
2 | 394 | 0.0051 | 15 | c.*16 others(26): Show |
HSD17B14 | ENSG00000087076.9 | transcript | ENST00000263278.9 | protein_coding | 1523 | chr19 | TogoVar | |||||||
HSD17B14_chr19_48808018_48841491 | 48816779 | T | TTTCTTTC others(8): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0376 | 1 | 394 | 0.0025 | 15 | c.370 others(32): Show |
HSD17B14 | ENSG00000087076.9 | transcript | ENST00000263278.9 | protein_coding | 5/8 | chr19 | TogoVar | |||||||
HSD17B14_chr19_48808018_48841491 | 48826525 | G | GAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 394 | 0.0025 | 15 | c.369 others(32): Show |
HSD17B14 | ENSG00000087076.9 | transcript | ENST00000263278.9 | protein_coding | 5/8 | chr19 | TogoVar | |||||||
HSD17B14_chr19_48808018_48841491 | 48826528 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02723.hp1 HG03130.hp2 HG03471.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0355 a0002c0002t0001g0356 a0002c0002t0001g0360 others(1): Show |
4 | 394 | 0.0102 | 15 | c.369 others(32): Show |
HSD17B14 | ENSG00000087076.9 | transcript | ENST00000263278.9 | protein_coding | 5/8 | chr19 | TogoVar | |||||||
HSD17B14_chr19_48808018_48841491 | 48826528 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02895.hp2 HG03540.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0052 a0002c0002t0001g0007 a0002c0002t0001g0331 |
4 | 394 | 0.0102 | 15 | c.369 others(32): Show |
HSD17B14 | ENSG00000087076.9 | transcript | ENST00000263278.9 | protein_coding | 5/8 | chr19 | TogoVar | |||||||
HSD17B3_chr9_96230306_96307176 | 96290456 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | NA18991.hp1 NA19074.hp2 |
a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0259 a0003c0003t0004g0265 |
2 | 374 | 0.0054 | 15 | c.201 others(32): Show |
HSD17B3 | ENSG00000130948.10 | transcript | ENST00000375263.8 | protein_coding | 2/10 | chr9 | TogoVar | |||||||
HSD17B3_chr9_96230306_96307176 | 96300250 | A | ACACACAC others(8): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 374 | 0.0027 | 15 | c.154 others(32): Show |
HSD17B3 | ENSG00000130948.10 | transcript | ENST00000375263.8 | protein_coding | 1/10 | chr9 | TogoVar | |||||||
HSD17B4_chr5_119447497_119547332 | 119509404 | T | TTCCTCCT others(8): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0007 | a0007c0006 | a0007c0006t0002 | a0007c0006t0002g0202 | 1 | 380 | 0.0026 | 15 | c.143 others(32): Show |
HSD17B4 | ENSG00000133835.18 | transcript | ENST00000510025.7 | protein_coding | 16/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
HSDL1_chr16_84117141_84150177 | 84148596 | C | CTCTCTCT others(8): Show |
upstream_gene_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0153 | 1 | 448 | 0.0022 | 15 | c.-35 others(26): Show |
HSDL1 | ENSG00000103160.12 | transcript | ENST00000219439.9 | protein_coding | 3420 | chr16 | TogoVar | |||||||
HSDL1_chr16_84117141_84150177 | 84148596 | C | CTTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0041 | 1 | 448 | 0.0022 | 15 | c.-36 others(26): Show |
HSDL1 | ENSG00000103160.12 | transcript | ENST00000219439.9 | protein_coding | 3420 | chr16 | TogoVar | |||||||
HSDL2_chr9_112375108_112477405 | 112391178 | A | AAATAATA others(8): Show |
intron_variant | MODIFIER | HG00738.hp2 HG03098.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0131 a0001c0001t0001g0185 a0001c0001t0014g0028 |
3 | 366 | 0.0082 | 15 | c.17+ others(32): Show |
HSDL2 | ENSG00000119471.15 | transcript | ENST00000398805.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
HSF1_chr8_144286604_144319720 | 144313660 | G | GCGCCTCC others(8): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0287 | 1 | 330 | 0.0030 | 15 | c.124 others(30): Show |
HSF1 | ENSG00000185122.11 | transcript | ENST00000528838.6 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
HSF5_chr17_58415167_58493408 | 58487384 | G | GAATTATC others(8): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0320 | 1 | 332 | 0.0030 | 15 | c.550 others(30): Show |
HSF5 | ENSG00000176160.11 | transcript | ENST00000323777.8 | protein_coding | 1/5 | chr17 | TogoVar | |||||||
HSP90AA1_chr14_102075742_102092044 | 102085031 | T | TGCACTCC others(8): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 398 | 0.0025 | 15 | c.664 others(28): Show |
HSP90AA1 | ENSG00000080824.19 | transcript | ENST00000216281.13 | protein_coding | 4/10 | chr14 | TogoVar | |||||||
HSP90B1_chr12_103925410_103952926 | 103948040 | C | CTTTTTTT others(8): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 HG00597.hp1 HG00621.hp1 others(70): Show |
a0001a0005 | a0001c0001a0001c0015a0005c0010 | a0001c0001t0001a0001c0015t0001a0005c0010t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(29): Show |
73 | 458 | 0.1594 | 15 | c.*37 others(24): Show |
HSP90B1 | ENSG00000166598.16 | transcript | ENST00000299767.10 | protein_coding | 115 | chr12 | TogoVar | |||||||
HSPA12A_chr10_116666192_116747566 | 116668971 | A | ACACACAC others(8): Show |
downstream_gene_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0003 | 1 | 320 | 0.0031 | 15 | c.*58 others(26): Show |
HSPA12A | ENSG00000165868.16 | transcript | ENST00000369209.8 | protein_coding | 2220 | chr10 | TogoVar | |||||||
HSPA12A_chr10_116666192_116747566 | 116696002 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02451.hp1 HG02451.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0152 a0001c0001t0002g0151 a0001c0001t0002g0167 others(5): Show |
9 | 320 | 0.0281 | 15 | c.546 others(32): Show |
HSPA12A | ENSG00000165868.16 | transcript | ENST00000369209.8 | protein_coding | 5/11 | chr10 | TogoVar | |||||||
HSPA4_chr5_133047013_133111449 | 133072389 | G | GTTGTTTT others(8): Show |
intron_variant | MODIFIER | HG02055.hp2 NA19240.hp2 NA20129.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0072a0001c0001t0082a0001c0004t0021 | a0001c0001t0072g0015 a0001c0001t0082g0014 a0001c0004t0021g0012 |
3 | 364 | 0.0082 | 15 | c.430 others(30): Show |
HSPA4 | ENSG00000170606.16 | transcript | ENST00000304858.7 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
HSPA4_chr5_133047013_133111449 | 133085489 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00621.hp2 others(50): Show |
a0001 | a0001c0001a0001c0002a0001c0015 | a0001c0001t0002a0001c0001t0017a0001c0002t0002others(12): Show | a0001c0001t0002g0074 a0001c0001t0017g0352 a0001c0001t0017g0353 others(48): Show |
53 | 364 | 0.1456 | 15 | c.909 others(32): Show |
HSPA4 | ENSG00000170606.16 | transcript | ENST00000304858.7 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
HSPA4_chr5_133047013_133111449 | 133106102 | A | ATTTTTTT others(8): Show |
3_prime_UTR_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0342 | 1 | 364 | 0.0028 | 15 | c.*16 others(26): Show |
HSPA4 | ENSG00000170606.16 | transcript | ENST00000304858.7 | protein_coding | 19/19 | 1705 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
HSPG2_chr1_21817244_21942310 | 21853751 | A | AAAAATAA others(8): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0060 | a0060c0073 | a0060c0073t0001 | a0060c0073t0001g0145 | 1 | 310 | 0.0032 | 15 | c.643 others(32): Show |
HSPG2 | ENSG00000142798.20 | transcript | ENST00000374695.8 | protein_coding | 50/96 | chr1 | TogoVar | |||||||
HSPG2_chr1_21817244_21942310 | 21854250 | C | CCTCCTTG others(8): Show |
conservative_inframe_insertion | MODERATE | NA18977.hp2 | a0070 | a0070c0077 | a0070c0077t0002 | a0070c0077t0002g0211 | 1 | 310 | 0.0032 | 15 | c.636 others(24): Show |
p.Glu others(30): Show |
HSPG2 | ENSG00000142798.20 | transcript | ENST00000374695.8 | protein_coding | 50/97 | 6474/14341 | 6381/13176 | 2127/4391 | chr1 | TogoVar | |||
HSPG2_chr1_21817244_21942310 | 21863060 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01515.hp1 HG03098.hp2 |
a0001a0016 | a0001c0032a0016c0019 | a0001c0032t0015a0016c0019t0002 | a0001c0032t0015g0301 a0016c0019t0002g0240 |
2 | 310 | 0.0065 | 15 | c.474 others(32): Show |
HSPG2 | ENSG00000142798.20 | transcript | ENST00000374695.8 | protein_coding | 37/96 | chr1 | TogoVar |