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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FXR1_chr3_180907670_180987753 | 180964673 | T | TTATATAT others(19): Show |
intron_variant | MODIFIER | HG02109.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0049 | a0001c0001t0009g0070 a0001c0001t0049g0058 |
2 | 92 | 0.0217 | 26 | c.119 others(45): Show |
FXR1 | ENSG00000114416.19 | transcript | ENST00000357559.9 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
FXR2_chr17_7586230_7619897 | 7609955 | C | CATATATA others(19): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01069.hp2 HG01071.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0047 others(2): Show |
11 | 344 | 0.0320 | 26 | c.82- others(41): Show |
FXR2 | ENSG00000129245.13 | transcript | ENST00000250113.12 | protein_coding | 1/16 | chr17 | TogoVar | |||||||
FXYD4_chr10_43366636_43381335 | 43367417 | C | CTACATAT others(19): Show |
upstream_gene_variant | MODIFIER | HG02258.hp1 HG03139.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 | 3 | 296 | 0.0101 | 26 | c.-45 others(37): Show |
FXYD4 | ENSG00000150201.15 | transcript | ENST00000476166.6 | protein_coding | 4218 | chr10 | TogoVar | |||||||
FXYD4_chr10_43366636_43381335 | 43367417 | C | CTATATAT others(19): Show |
upstream_gene_variant | MODIFIER | HG01192.hp1 HG01192.hp2 HG01891.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0008 others(3): Show |
13 | 306 | 0.0425 | 26 | c.-45 others(37): Show |
FXYD4 | ENSG00000150201.15 | transcript | ENST00000476166.6 | protein_coding | 4218 | chr10 | TogoVar | |||||||
FXYD5_chr19_35149735_35174881 | 35161221 | A | AACACACA others(19): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00609.hp1 HG00735.hp1 others(46): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0029 others(26): Show |
49 | 113 | 0.4336 | 26 | c.292 others(41): Show |
FXYD5 | ENSG00000089327.15 | transcript | ENST00000392219.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
FYTTD1_chr3_197744883_197792596 | 197766430 | G | GGTGTGTG others(19): Show |
intron_variant | MODIFIER | HG02717.hp1 HG03540.hp2 |
a0001a0002 | a0001c0004a0002c0002 | a0001c0004t0001a0002c0002t0041 | a0001c0004t0001g0102 a0002c0002t0041g0101 |
2 | 40 | 0.0500 | 26 | c.236 others(43): Show |
FYTTD1 | ENSG00000122068.13 | transcript | ENST00000241502.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
FYTTD1_chr3_197744883_197792596 | 197792577 | T | TTATATAT others(19): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG01361.hp1 HG01515.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0013a0001c0001t0020others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0019 a0001c0001t0001g0072 others(7): Show |
10 | 78 | 0.1282 | 26 | c.*10 others(39): Show |
FYTTD1 | ENSG00000122068.13 | transcript | ENST00000241502.9 | protein_coding | 4982 | chr3 | TogoVar | |||||||
FYTTD1_chr3_197744883_197792596 | 197792577 | T | TTTTATAT others(19): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 2 | 70 | 0.0286 | 26 | c.*10 others(39): Show |
FYTTD1 | ENSG00000122068.13 | transcript | ENST00000241502.9 | protein_coding | 4982 | chr3 | TogoVar | |||||||
FZD6_chr8_103293898_103337866 | 103329013 | T | TTATATAT others(19): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG01099.hp2 others(41): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0014 a0001c0001t0001g0062 a0001c0001t0001g0064 others(29): Show |
44 | 48 | 0.9167 | 26 | c.154 others(43): Show |
FZD6 | ENSG00000164930.12 | transcript | ENST00000358755.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
FZD7_chr2_202028855_202043441 | 202040052 | C | CTTTTTTT others(19): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0030 | a0001c0001t0004g0000 a0001c0001t0030g0000 |
12 | 38 | 0.3158 | 26 | c.*36 others(37): Show |
FZD7 | ENSG00000155760.3 | transcript | ENST00000286201.3 | protein_coding | 1612 | chr2 | TogoVar | |||||||
G3BP2_chr4_75637786_75678411 | 75643295 | T | TTATATAT others(19): Show |
3_prime_UTR_variant | MODIFIER | HG01099.hp1 HG01975.hp2 HG02004.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0019 | a0001c0001t0013g0051 a0001c0001t0013g0057 a0001c0001t0013g0062 others(4): Show |
7 | 139 | 0.0504 | 26 | c.*21 others(37): Show |
G3BP2 | ENSG00000138757.15 | transcript | ENST00000359707.9 | protein_coding | 12/12 | 2134 | chr4 | TogoVar | ||||||
G3BP2_chr4_75637786_75678411 | 75674718 | A | ATATATAT others(19): Show |
upstream_gene_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0212 | 1 | 229 | 0.0044 | 26 | c.-15 others(37): Show |
G3BP2 | ENSG00000138757.15 | transcript | ENST00000359707.9 | protein_coding | 1308 | chr4 | TogoVar | |||||||
G6PC2_chr2_168896291_168915000 | 168897568 | A | ATATATAA others(19): Show |
upstream_gene_variant | MODIFIER | HG04204.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 1 | 409 | 0.0024 | 26 | c.-37 others(37): Show |
G6PC2 | ENSG00000152254.11 | transcript | ENST00000375363.8 | protein_coding | 3722 | chr2 | TogoVar | |||||||
G6PC2_chr2_168896291_168915000 | 168897588 | A | AATAAATT others(19): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(37): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0016a0002c0002t0002 | a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0048 others(7): Show |
40 | 403 | 0.0993 | 26 | c.-37 others(37): Show |
G6PC2 | ENSG00000152254.11 | transcript | ENST00000375363.8 | protein_coding | 3702 | chr2 | TogoVar | |||||||
GAA_chr17_80096581_80124881 | 80120357 | C | CCCTCCTC others(19): Show |
downstream_gene_variant | MODIFIER | HG01978.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0017 | 1 | 245 | 0.0041 | 26 | c.*10 others(37): Show |
GAA | ENSG00000171298.14 | transcript | ENST00000302262.8 | protein_coding | 477 | chr17 | TogoVar | |||||||
GAB1_chr4_143331876_143479565 | 143373864 | A | AATATATA others(19): Show |
intron_variant | MODIFIER | HG01981.hp2 HG03486.hp1 HG04199.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0013 | a0001c0001t0001g0036 a0001c0001t0001g0049 a0001c0001t0001g0070 others(3): Show |
6 | 143 | 0.0420 | 26 | c.72+ others(43): Show |
GAB1 | ENSG00000109458.10 | transcript | ENST00000262994.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GAB1_chr4_143331876_143479565 | 143373868 | A | AATAAATA others(19): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02886.hp1 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0178 a0001c0001t0002g0182 a0001c0001t0002g0185 |
3 | 93 | 0.0323 | 26 | c.72+ others(43): Show |
GAB1 | ENSG00000109458.10 | transcript | ENST00000262994.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GAB1_chr4_143331876_143479565 | 143373868 | A | AATATATA others(19): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 91 | 0.0110 | 26 | c.72+ others(43): Show |
GAB1 | ENSG00000109458.10 | transcript | ENST00000262994.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GAB2_chr11_78210293_78422820 | 78307604 | T | TAGAGAGA others(19): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02818.hp2 HG02922.hp2 others(3): Show |
a0001a0003 | a0001c0002a0001c0005a0001c0008others(1): Show | a0001c0002t0002a0001c0002t0055a0001c0005t0013others(3): Show | a0001c0002t0002g0046 a0001c0002t0055g0117 a0001c0005t0013g0130 others(3): Show |
6 | 153 | 0.0392 | 26 | c.76- others(43): Show |
GAB2 | ENSG00000033327.13 | transcript | ENST00000361507.5 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
GAB2_chr11_78210293_78422820 | 78309971 | T | TGTGTGTG others(19): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0006 | a0006c0018 | a0006c0018t0007 | a0006c0018t0007g0124 | 1 | 252 | 0.0040 | 26 | c.76- others(43): Show |
GAB2 | ENSG00000033327.13 | transcript | ENST00000361507.5 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
GAB2_chr11_78210293_78422820 | 78309971 | T | TGTGTGTG others(19): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0119 | 1 | 252 | 0.0040 | 26 | c.76- others(43): Show |
GAB2 | ENSG00000033327.13 | transcript | ENST00000361507.5 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
GAB2_chr11_78210293_78422820 | 78318369 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02083.hp1 HG02622.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0012a0001c0001t0033others(1): Show | a0001c0001t0004g0211 a0001c0001t0004g0229 a0001c0001t0012g0106 others(2): Show |
5 | 52 | 0.0962 | 26 | c.76- others(43): Show |
GAB2 | ENSG00000033327.13 | transcript | ENST00000361507.5 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
GAB2_chr11_78210293_78422820 | 78398021 | T | TACACACA others(19): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02647.hp1 HG02717.hp1 others(7): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0022a0001c0001t0038a0001c0002t0021others(3): Show | a0001c0001t0022g0107 a0001c0001t0038g0109 a0001c0002t0021g0126 others(7): Show |
10 | 251 | 0.0398 | 26 | c.75+ others(43): Show |
GAB2 | ENSG00000033327.13 | transcript | ENST00000361507.5 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
GABBR2_chr9_98283109_98713935 | 98648116 | T | TGTGTGTG others(19): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0076 | 1 | 7 | 0.1429 | 26 | c.321 others(45): Show |
GABBR2 | ENSG00000136928.7 | transcript | ENST00000259455.4 | protein_coding | 1/18 | chr9 | TogoVar | |||||||
GABBR2_chr9_98283109_98713935 | 98648116 | T | TGTGTGTG others(19): Show |
intron_variant | MODIFIER | HG01516.hp2 HG02922.hp2 |
a0001a0002 | a0001c0002a0002c0009 | a0001c0002t0030a0002c0009t0007 | a0001c0002t0030g0112 a0002c0009t0007g0110 |
2 | 8 | 0.2500 | 26 | c.321 others(45): Show |
GABBR2 | ENSG00000136928.7 | transcript | ENST00000259455.4 | protein_coding | 1/18 | chr9 | TogoVar | |||||||
GABBR2_chr9_98283109_98713935 | 98648116 | T | TGTGTGTG others(19): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02145.hp2 HG03225.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0003a0001c0001t0004a0001c0003t0006others(1): Show | a0001c0001t0003g0078 a0001c0001t0004g0013 a0001c0003t0006g0089 others(2): Show |
5 | 11 | 0.4545 | 26 | c.321 others(45): Show |
GABBR2 | ENSG00000136928.7 | transcript | ENST00000259455.4 | protein_coding | 1/18 | chr9 | TogoVar | |||||||
GABBR2_chr9_98283109_98713935 | 98648116 | T | TGTGTGTG others(19): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03209.hp2 |
a0002 | a0002c0004a0002c0012 | a0002c0004t0007a0002c0012t0007 | a0002c0004t0007g0101 a0002c0012t0007g0080 |
2 | 8 | 0.2500 | 26 | c.321 others(45): Show |
GABBR2 | ENSG00000136928.7 | transcript | ENST00000259455.4 | protein_coding | 1/18 | chr9 | TogoVar | |||||||
GABRA1_chr5_161843120_161904971 | 161843952 | T | TATAAAGA others(19): Show |
upstream_gene_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0131 | 1 | 392 | 0.0026 | 26 | c.-44 others(37): Show |
GABRA1 | ENSG00000022355.18 | transcript | ENST00000393943.10 | protein_coding | 4167 | chr5 | TogoVar | |||||||
GABRA2_chr4_46238548_46395128 | 46249034 | A | ATGTGTGT others(19): Show |
3_prime_UTR_variant | MODIFIER | HG02257.hp2 HG02258.hp2 HG02630.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0081 a0001c0001t0013g0087 a0001c0001t0013g0095 others(2): Show |
5 | 96 | 0.0521 | 26 | c.*12 others(37): Show |
GABRA2 | ENSG00000151834.16 | transcript | ENST00000381620.9 | protein_coding | 10/10 | 1273 | chr4 | TogoVar | ||||||
GABRA2_chr4_46238548_46395128 | 46264986 | C | CATATATA others(19): Show |
intron_variant | MODIFIER | HG02129.hp2 HG02809.hp1 HG03486.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0009a0001c0001t0015others(4): Show | a0001c0001t0005g0100 a0001c0001t0009g0106 a0001c0001t0015g0200 others(4): Show |
7 | 102 | 0.0686 | 26 | c.857 others(43): Show |
GABRA2 | ENSG00000151834.16 | transcript | ENST00000381620.9 | protein_coding | 8/9 | chr4 | TogoVar | |||||||
GABRA2_chr4_46238548_46395128 | 46273504 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0223 | 1 | 253 | 0.0040 | 26 | c.857 others(45): Show |
GABRA2 | ENSG00000151834.16 | transcript | ENST00000381620.9 | protein_coding | 8/9 | chr4 | TogoVar | |||||||
GABRA2_chr4_46238548_46395128 | 46297476 | C | CATATATA others(19): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0254 | 1 | 7 | 0.1429 | 26 | c.856 others(43): Show |
GABRA2 | ENSG00000151834.16 | transcript | ENST00000381620.9 | protein_coding | 8/9 | chr4 | TogoVar | |||||||
GABRB1_chr4_47026567_47431447 | 47125559 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0085 | 1 | 6 | 0.1667 | 26 | c.241 others(45): Show |
GABRB1 | ENSG00000163288.14 | transcript | ENST00000295454.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GABRB1_chr4_47026567_47431447 | 47246277 | C | CATATATA others(19): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0085 | 1 | 123 | 0.0081 | 26 | c.462 others(45): Show |
GABRB1 | ENSG00000163288.14 | transcript | ENST00000295454.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GABRB1_chr4_47026567_47431447 | 47246337 | C | CATATATA others(19): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0027 | 1 | 17 | 0.0588 | 26 | c.462 others(45): Show |
GABRB1 | ENSG00000163288.14 | transcript | ENST00000295454.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GABRB2_chr5_161283436_161551725 | 161416696 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00639.hp1 HG00642.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0020 | a0001c0001t0001g0042 a0001c0001t0001g0191 a0001c0001t0001g0206 others(4): Show |
7 | 23 | 0.3043 | 26 | c.459 others(43): Show |
GABRB2 | ENSG00000145864.14 | transcript | ENST00000393959.6 | protein_coding | 4/9 | chr5 | TogoVar | |||||||
GABRB3_chr15_26538552_26778066 | 26554021 | T | TTATATAT others(19): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0079 a0001c0001t0008g0190 |
2 | 128 | 0.0156 | 26 | c.108 others(45): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 8/8 | chr15 | TogoVar | |||||||
GABRB3_chr15_26538552_26778066 | 26554021 | T | TTTTATAT others(19): Show |
intron_variant | MODIFIER | HG02723.hp2 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0010 a0001c0001t0011g0022 |
2 | 128 | 0.0156 | 26 | c.108 others(45): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 8/8 | chr15 | TogoVar | |||||||
GABRB3_chr15_26538552_26778066 | 26554039 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG01515.hp2 HG02015.hp2 HG02738.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0028 | a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0032 others(8): Show |
11 | 145 | 0.0759 | 26 | c.108 others(45): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 8/8 | chr15 | TogoVar | |||||||
GABRB3_chr15_26538552_26778066 | 26554207 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG00673.hp1 HG02717.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025 a0001c0001t0002g0177 |
2 | 149 | 0.0134 | 26 | c.108 others(45): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 8/8 | chr15 | TogoVar | |||||||
GABRB3_chr15_26538552_26778066 | 26554207 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 148 | 0.0068 | 26 | c.108 others(45): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 8/8 | chr15 | TogoVar | |||||||
GABRB3_chr15_26538552_26778066 | 26586397 | A | AACACACA others(19): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0150 | 1 | 5 | 0.2000 | 26 | c.462 others(43): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 4/8 | chr15 | TogoVar | |||||||
GABRG1_chr4_46030769_46129054 | 46121630 | G | GCATCTTG others(19): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG02145.hp2 others(32): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0009a0001c0002t0004others(5): Show | a0001c0001t0006g0036 a0001c0001t0006g0042 a0001c0001t0006g0043 others(32): Show |
35 | 306 | 0.1144 | 26 | c.104 others(43): Show |
GABRG1 | ENSG00000163285.8 | transcript | ENST00000295452.5 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
GABRG1_chr4_46030769_46129054 | 46128321 | G | GATATATA others(19): Show |
upstream_gene_variant | MODIFIER | HG02257.hp1 HG02280.hp1 HG02451.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0008 | a0001c0002t0004g0026 a0001c0002t0004g0031 a0001c0002t0004g0035 others(3): Show |
6 | 288 | 0.0208 | 26 | c.-44 others(37): Show |
GABRG1 | ENSG00000163285.8 | transcript | ENST00000295452.5 | protein_coding | 4268 | chr4 | TogoVar | |||||||
GABRG3_chr15_26966181_27546984 | 27265882 | G | GTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG02809.hp2 HG02922.hp1 |
a0001 | a0001c0002a0001c0008 | a0001c0002t0026a0001c0008t0008 | a0001c0002t0026g0070 a0001c0008t0008g0001 |
2 | 38 | 0.0526 | 26 | c.271 others(45): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GABRG3_chr15_26966181_27546984 | 27306979 | A | AATATAAA others(19): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 70 | 0.0143 | 26 | c.271 others(45): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GABRG3_chr15_26966181_27546984 | 27307366 | T | TAGGTTTA others(19): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03195.hp2 NA21309.hp2 |
a0001 | a0001c0001a0001c0004a0001c0006 | a0001c0001t0021a0001c0004t0010a0001c0006t0003 | a0001c0001t0021g0072 a0001c0004t0010g0075 a0001c0006t0003g0069 |
3 | 87 | 0.0345 | 26 | c.271 others(45): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GABRG3_chr15_26966181_27546984 | 27307728 | A | AATATATA others(19): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01891.hp1 HG02717.hp2 others(2): Show |
a0001 | a0001c0001a0001c0012a0001c0014others(2): Show | a0001c0001t0028a0001c0012t0003a0001c0014t0024others(2): Show | a0001c0001t0028g0054 a0001c0012t0003g0068 a0001c0014t0024g0057 others(2): Show |
5 | 90 | 0.0556 | 26 | c.271 others(45): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GABRG3_chr15_26966181_27546984 | 27388363 | A | AGGAAGGA others(19): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0022 | 1 | 91 | 0.0110 | 26 | c.574 others(45): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GADL1_chr3_30721197_30899661 | 30805734 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG03130.hp1 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0250 a0001c0001t0003g0207 |
2 | 69 | 0.0290 | 26 | c.105 others(45): Show |
GADL1 | ENSG00000144644.15 | transcript | ENST00000282538.10 | protein_coding | 11/14 | chr3 | TogoVar |