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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HOXC13_chr12_53933831_53951544 | 53942154 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp2 HG01496.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0015 a0001c0001t0001g0053 a0001c0001t0002g0016 others(3): Show |
17 | 402 | 0.0423 | -13 | c.736 others(30): Show |
HOXC13 | ENSG00000123364.5 | transcript | ENST00000243056.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
HOXD10_chr2_176111778_176124937 | 176113557 | AGCACGGC others(6): Show |
A | upstream_gene_variant | MODIFIER | NA18953.hp2 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0017 | 1 | 428 | 0.0023 | -13 | c.-32 others(24): Show |
HOXD10 | ENSG00000128710.6 | transcript | ENST00000249501.5 | protein_coding | 3220 | chr2 | TogoVar | |||||||
HOXD1_chr2_176183668_176195907 | 176195844 | CAAAAAAA others(6): Show |
C | downstream_gene_variant | MODIFIER | HG02896.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0002 | 1 | 358 | 0.0028 | -13 | c.*57 others(24): Show |
HOXD1 | ENSG00000128645.15 | transcript | ENST00000331462.6 | protein_coding | 4938 | chr2 | TogoVar | |||||||
HOXD8_chr2_176124705_176137695 | 176130381 | CGTGAACC others(6): Show |
C | frameshift_variant | HIGH | NA18959.hp2 | a0007 | a0007c0011 | a0007c0011t0003 | a0007c0011t0003g0001 | 1 | 400 | 0.0025 | -13 | c.16_ others(18): Show |
p.Val others(3): Show |
HOXD8 | ENSG00000175879.9 | transcript | ENST00000313173.6 | protein_coding | 1/2 | 678/2618 | 16/873 | 6/290 | chr2 | TogoVar | |||
HPCAL1_chr2_10297904_10432604 | 10349702 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01167.hp1 HG01257.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0016 | a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0262 others(4): Show |
7 | 314 | 0.0223 | -13 | c.-11 others(34): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HPGDS_chr4_94293535_94347836 | 94340311 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | NA18959.hp2 NA18974.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0251 a0001c0001t0002g0267 |
2 | 312 | 0.0064 | -13 | c.-10 others(30): Show |
HPGDS | ENSG00000163106.11 | transcript | ENST00000295256.10 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
HPN_chr19_35036721_35071573 | 35065425 | GATGAGTC others(6): Show |
G | intron_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0267 | 1 | 384 | 0.0026 | -13 | c.907 others(26): Show |
HPN | ENSG00000105707.15 | transcript | ENST00000672452.2 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HPS1_chr10_98411198_98451935 | 98451775 | TATCTTTT others(6): Show |
T | upstream_gene_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0124 | 1 | 434 | 0.0023 | -13 | c.-50 others(24): Show |
HPS1 | ENSG00000107521.21 | transcript | ENST00000361490.9 | protein_coding | 4841 | chr10 | TogoVar | |||||||
HPS5_chr11_18273676_18327140 | 18324722 | CTAGTAGT others(6): Show |
C | upstream_gene_variant | MODIFIER | HG01243.hp1 HG02257.hp2 HG02258.hp1 others(13): Show |
a0001 | a0001c0001a0001c0014 | a0001c0001t0001a0001c0014t0001 | a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0324 others(10): Show |
16 | 372 | 0.0430 | -13 | c.-28 others(24): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2583 | chr11 | TogoVar | |||||||
HPSE2_chr10_98452077_99240852 | 98524444 | ACTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(44): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0013 others(44): Show |
47 | 142 | 0.3310 | -13 | c.132 others(34): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 9/11 | chr10 | TogoVar | |||||||
HPSE2_chr10_98452077_99240852 | 98927167 | TTTCTGTC others(6): Show |
T | intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0005 | 1 | 142 | 0.0070 | -13 | c.611 others(34): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 3/11 | chr10 | TogoVar | |||||||
HPSE2_chr10_98452077_99240852 | 99014182 | CAAGTTGT others(6): Show |
C | intron_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 142 | 0.0070 | -13 | c.610 others(34): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 3/11 | chr10 | TogoVar | |||||||
HPSE2_chr10_98452077_99240852 | 99053719 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 142 | 0.0070 | -13 | c.610 others(32): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 3/11 | chr10 | TogoVar | |||||||
HPSE2_chr10_98452077_99240852 | 99086339 | GTACTTTC others(6): Show |
G | intron_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0061 | 1 | 142 | 0.0070 | -13 | c.610 others(32): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 3/11 | chr10 | TogoVar | |||||||
HPSE2_chr10_98452077_99240852 | 99117417 | GAAAAAAA others(6): Show |
G | intron_variant | MODIFIER | HG03579.hp2 HG04184.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0027a0002c0002t0002 | a0001c0001t0027g0003 a0002c0002t0002g0121 |
2 | 142 | 0.0141 | -13 | c.610 others(32): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 3/11 | chr10 | TogoVar | |||||||
HPSE2_chr10_98452077_99240852 | 99164225 | CATTATAT others(6): Show |
C | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0091 | 1 | 142 | 0.0070 | -13 | c.449 others(32): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 2/11 | chr10 | TogoVar | |||||||
HPSE2_chr10_98452077_99240852 | 99169504 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0069 | 1 | 142 | 0.0070 | -13 | c.449 others(32): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 2/11 | chr10 | TogoVar | |||||||
HPSE2_chr10_98452077_99240852 | 99184522 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 142 | 0.0070 | -13 | c.449 others(32): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 2/11 | chr10 | TogoVar | |||||||
HPSE_chr4_83287461_83339848 | 83299363 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02486.hp1 HG02630.hp2 HG02895.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0009 a0001c0001t0009g0071 a0001c0001t0009g0124 others(2): Show |
5 | 320 | 0.0156 | -13 | c.147 others(32): Show |
HPSE | ENSG00000173083.16 | transcript | ENST00000311412.10 | protein_coding | 11/11 | chr4 | TogoVar | |||||||
HPSE_chr4_83287461_83339848 | 83300814 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02965.hp2 HG03195.hp1 NA19030.hp2 |
a0001 | a0001c0003 | a0001c0003t0011 | a0001c0003t0011g0007 a0001c0003t0011g0077 a0001c0003t0011g0283 |
3 | 320 | 0.0094 | -13 | c.147 others(30): Show |
HPSE | ENSG00000173083.16 | transcript | ENST00000311412.10 | protein_coding | 11/11 | chr4 | TogoVar | |||||||
HPSE_chr4_83287461_83339848 | 83339077 | AATGTAGA others(6): Show |
A | upstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0232 | 1 | 320 | 0.0031 | -13 | c.-43 others(24): Show |
HPSE | ENSG00000173083.16 | transcript | ENST00000311412.10 | protein_coding | 4230 | chr4 | TogoVar | |||||||
HPSE_chr4_83287461_83339848 | 83339127 | TCCGGGCA others(6): Show |
T | upstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0232 | 1 | 320 | 0.0031 | -13 | c.-43 others(24): Show |
HPSE | ENSG00000173083.16 | transcript | ENST00000311412.10 | protein_coding | 4280 | chr4 | TogoVar | |||||||
HPSE_chr4_83287461_83339848 | 83339180 | TTTCTAAA others(6): Show |
T | upstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0232 | 1 | 320 | 0.0031 | -13 | c.-44 others(24): Show |
HPSE | ENSG00000173083.16 | transcript | ENST00000311412.10 | protein_coding | 4333 | chr4 | TogoVar | |||||||
HS2ST1_chr1_86909635_87114982 | 87075161 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02630.hp1 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0116 a0001c0001t0013g0117 |
2 | 154 | 0.0130 | -13 | c.363 others(30): Show |
HS2ST1 | ENSG00000153936.18 | transcript | ENST00000370550.10 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HS2ST1_chr1_86909635_87114982 | 87089032 | GATTCCCA others(6): Show |
G | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0107 | 1 | 154 | 0.0065 | -13 | c.450 others(30): Show |
HS2ST1 | ENSG00000153936.18 | transcript | ENST00000370550.10 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HS3ST3A1_chr17_13489032_13606929 | 13526473 | TTTATATA others(6): Show |
T | intron_variant | MODIFIER | NA18971.hp1 NA18971.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0002t0001 | a0001c0001t0008g0047 a0001c0002t0001g0168 |
2 | 338 | 0.0059 | -13 | c.600 others(32): Show |
HS3ST3A1 | ENSG00000153976.3 | transcript | ENST00000284110.2 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
HS3ST3A1_chr17_13489032_13606929 | 13560289 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0002 | a0001c0002t0054 | a0001c0002t0054g0233 | 1 | 338 | 0.0030 | -13 | c.599 others(32): Show |
HS3ST3A1 | ENSG00000153976.3 | transcript | ENST00000284110.2 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
HS3ST3A1_chr17_13489032_13606929 | 13579701 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0079 | 1 | 338 | 0.0030 | -13 | c.599 others(32): Show |
HS3ST3A1 | ENSG00000153976.3 | transcript | ENST00000284110.2 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
HS3ST4_chr16_25686959_26142685 | 25719374 | GACAAGTG others(6): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(69): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(69): Show |
72 | 164 | 0.4390 | -13 | c.734 others(32): Show |
HS3ST4 | ENSG00000182601.7 | transcript | ENST00000331351.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
HS3ST4_chr16_25686959_26142685 | 25911496 | GTTTTTTT others(6): Show |
G | intron_variant | MODIFIER | HG03209.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0064 | 1 | 164 | 0.0061 | -13 | c.734 others(34): Show |
HS3ST4 | ENSG00000182601.7 | transcript | ENST00000331351.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
HS3ST5_chr6_114050596_114348023 | 114093352 | TTTGTGTG others(6): Show |
T | intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0035 | 1 | 206 | 0.0049 | -13 | c.-32 others(32): Show |
HS3ST5 | ENSG00000249853.9 | transcript | ENST00000312719.10 | protein_coding | 3/4 | chr6 | TogoVar | |||||||
HS3ST5_chr6_114050596_114348023 | 114184054 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02622.hp2 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0035a0001c0001t0041 | a0001c0001t0035g0197 a0001c0001t0041g0204 |
2 | 206 | 0.0097 | -13 | c.-14 others(34): Show |
HS3ST5 | ENSG00000249853.9 | transcript | ENST00000312719.10 | protein_coding | 2/4 | chr6 | TogoVar | |||||||
HS6ST2_chrX_132621015_132963629 | 132708299 | TAAAAAAA others(6): Show |
T | intron_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0037 | 1 | 201 | 0.0050 | -13 | c.980 others(28): Show |
HS6ST2 | ENSG00000171004.19 | transcript | ENST00000370833.7 | protein_coding | 3/4 | chrX | TogoVar | |||||||
HS6ST2_chrX_132621015_132963629 | 132899637 | TTAGCTAT others(6): Show |
T | intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0118 | 1 | 201 | 0.0050 | -13 | c.947 others(32): Show |
HS6ST2 | ENSG00000171004.19 | transcript | ENST00000370833.7 | protein_coding | 2/4 | chrX | TogoVar | |||||||
HS6ST3_chr13_96085107_96844562 | 96254437 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0013 | 1 | 116 | 0.0086 | -13 | 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 | 96254447 | AAATATAT others(6): Show |
A | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0075 | 1 | 116 | 0.0086 | -13 | c.707 others(34): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
HSBP1L1_chr18_79959643_79975822 | 79969218 | AAGAAAGA others(6): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00423.hp1 others(77): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0008 | a0001c0001t0002g0007 a0001c0001t0002g0026 a0001c0001t0003g0004 others(36): Show |
80 | 412 | 0.1942 | -13 | c.213 others(30): Show |
HSBP1L1 | ENSG00000226742.4 | transcript | ENST00000451882.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
HSD11B1_chr1_209699846_209739929 | 209726293 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG02630.hp2 HG03688.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0049 a0001c0001t0004g0113 |
2 | 400 | 0.0050 | -13 | c.518 others(30): Show |
HSD11B1 | ENSG00000117594.10 | transcript | ENST00000367027.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HSD17B11_chr4_87331515_87396188 | 87380863 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00673.hp1 others(66): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 others(64): Show |
69 | 390 | 0.1769 | -13 | c.318 others(30): Show |
HSD17B11 | ENSG00000198189.11 | transcript | ENST00000358290.9 | protein_coding | 2/6 | chr4 | TogoVar | |||||||
HSD17B12_chr11_43675738_43861615 | 43853337 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00609.hp2 HG01070.hp2 others(25): Show |
a0001a0005 | a0001c0001a0001c0003a0005c0006 | a0001c0001t0003a0001c0001t0011a0001c0003t0003others(1): Show | a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0014 others(25): Show |
28 | 280 | 0.1000 | -13 | c.685 others(30): Show |
HSD17B12 | ENSG00000149084.13 | transcript | ENST00000278353.10 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HSD17B12_chr11_43675738_43861615 | 43859756 | CAAAAAAA others(6): Show |
C | downstream_gene_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0247 | 1 | 280 | 0.0036 | -13 | c.*45 others(24): Show |
HSD17B12 | ENSG00000149084.13 | transcript | ENST00000278353.10 | protein_coding | 3142 | chr11 | TogoVar | |||||||
HSD17B14_chr19_48808018_48841491 | 48809066 | CAAAAAAA others(6): Show |
C | downstream_gene_variant | MODIFIER | HG02970.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0359 | 1 | 394 | 0.0025 | -13 | c.*40 others(24): Show |
HSD17B14 | ENSG00000087076.9 | transcript | ENST00000263278.9 | protein_coding | 3951 | chr19 | TogoVar | |||||||
HSD17B14_chr19_48808018_48841491 | 48839918 | GTGTAAAC others(6): Show |
G | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00741.hp2 HG01074.hp2 others(11): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0001a0002c0003t0001 | a0002c0002t0001g0289 a0002c0002t0001g0371 a0002c0003t0001g0362 others(11): Show |
14 | 394 | 0.0355 | -13 | c.-35 others(24): Show |
HSD17B14 | ENSG00000087076.9 | transcript | ENST00000263278.9 | protein_coding | 3428 | chr19 | TogoVar | |||||||
HSD17B2_chr16_82030253_82103534 | 82077747 | GAAGAAAG others(6): Show |
G | intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0122 | 1 | 366 | 0.0027 | -13 | c.664 others(30): Show |
HSD17B2 | ENSG00000086696.11 | transcript | ENST00000199936.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
HSD17B2_chr16_82030253_82103534 | 82090302 | GTTTTTTT others(6): Show |
G | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0065 | 1 | 366 | 0.0027 | -13 | c.665 others(28): Show |
HSD17B2 | ENSG00000086696.11 | transcript | ENST00000199936.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
HSD17B3_chr9_96230306_96307176 | 96255367 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02895.hp1 HG02922.hp2 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0161 |
3 | 374 | 0.0080 | -13 | c.202 others(28): Show |
HSD17B3 | ENSG00000130948.10 | transcript | ENST00000375263.8 | protein_coding | 2/10 | chr9 | TogoVar | |||||||
HSD17B3_chr9_96230306_96307176 | 96282992 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00609.hp1 others(73): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(1): Show | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 others(73): Show |
76 | 374 | 0.2032 | -13 | c.201 others(32): Show |
HSD17B3 | ENSG00000130948.10 | transcript | ENST00000375263.8 | protein_coding | 2/10 | chr9 | TogoVar | |||||||
HSD17B4_chr5_119447497_119547332 | 119463655 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG02055.hp2 HG02257.hp2 others(22): Show |
a0001a0004 | a0001c0001a0004c0004a0004c0009 | a0001c0001t0001a0004c0004t0003a0004c0009t0003 | a0001c0001t0001g0242 a0001c0001t0001g0327 a0004c0004t0003g0328 others(22): Show |
25 | 380 | 0.0658 | -13 | c.112 others(30): Show |
HSD17B4 | ENSG00000133835.18 | transcript | ENST00000510025.7 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
HSD17B7_chr1_162785702_162817823 | 162788034 | AAAAAAAT others(6): Show |
A | upstream_gene_variant | MODIFIER | NA18941.hp2 NA18965.hp2 NA18966.hp1 others(11): Show |
a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0006 a0003c0004t0003g0038 a0003c0004t0003g0179 others(1): Show |
14 | 420 | 0.0333 | -13 | c.-27 others(24): Show |
HSD17B7 | ENSG00000132196.16 | transcript | ENST00000254521.8 | protein_coding | 2667 | chr1 | TogoVar | |||||||
HSD3B1_chr1_119502210_119520054 | 119510717 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 NA18981.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 4 | 410 | 0.0098 | -13 | c.146 others(28): Show |
HSD3B1 | ENSG00000203857.10 | transcript | ENST00000369413.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |