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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GABBR2_chr9_98283109_98713935 | 98492349 | T | TAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01256.hp1 HG01257.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0019a0001c0002t0001a0001c0003t0008others(2): Show | a0001c0001t0019g0126 a0001c0002t0001g0127 a0001c0002t0001g0137 others(3): Show |
6 | 164 | 0.0366 | 20 | c.732 others(37): Show |
GABBR2 | ENSG00000136928.7 | transcript | ENST00000259455.4 | protein_coding | 4/18 | chr9 | TogoVar | |||||||
GABBR2_chr9_98283109_98713935 | 98576933 | T | TGGATGGA others(13): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00597.hp1 HG00621.hp2 others(38): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(27): Show | a0001c0001t0001g0149 a0001c0001t0001g0158 a0001c0001t0003g0004 others(38): Show |
41 | 164 | 0.2500 | 20 | c.459 others(37): Show |
GABBR2 | ENSG00000136928.7 | transcript | ENST00000259455.4 | protein_coding | 2/18 | chr9 | TogoVar | |||||||
GABBR2_chr9_98283109_98713935 | 98640121 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG01884.hp1 HG03225.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0011a0002c0004t0002 | a0001c0001t0011g0055 a0002c0004t0002g0056 |
2 | 164 | 0.0122 | 20 | c.322 others(39): Show |
GABBR2 | ENSG00000136928.7 | transcript | ENST00000259455.4 | protein_coding | 1/18 | chr9 | TogoVar | |||||||
GABBR2_chr9_98283109_98713935 | 98648080 | G | GGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0002 | a0002c0017 | a0002c0017t0002 | a0002c0017t0002g0038 | 1 | 164 | 0.0061 | 20 | c.321 others(39): Show |
GABBR2 | ENSG00000136928.7 | transcript | ENST00000259455.4 | protein_coding | 1/18 | chr9 | TogoVar | |||||||
GABBR2_chr9_98283109_98713935 | 98648116 | T | TATAGATA others(13): Show |
intron_variant | MODIFIER | HG02809.hp1 NA18969.hp1 |
a0002 | a0002c0010a0002c0018 | a0002c0010t0007a0002c0018t0002 | a0002c0010t0007g0028 a0002c0018t0002g0023 |
2 | 164 | 0.0122 | 20 | c.321 others(39): Show |
GABBR2 | ENSG00000136928.7 | transcript | ENST00000259455.4 | protein_coding | 1/18 | chr9 | TogoVar | |||||||
GABBR2_chr9_98283109_98713935 | 98648116 | T | TGTGTATA others(13): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01169.hp2 HG01257.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0015a0001c0002t0001a0001c0003t0005others(3): Show | a0001c0001t0015g0042 a0001c0002t0001g0137 a0001c0003t0005g0123 others(4): Show |
7 | 164 | 0.0427 | 20 | c.321 others(39): Show |
GABBR2 | ENSG00000136928.7 | transcript | ENST00000259455.4 | protein_coding | 1/18 | chr9 | TogoVar | |||||||
GABBR2_chr9_98283109_98713935 | 98648116 | T | TGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01346.hp2 HG02145.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0007others(2): Show | a0001c0001t0003a0001c0001t0008a0001c0001t0030others(4): Show | a0001c0001t0003g0045 a0001c0001t0008g0144 a0001c0001t0030g0003 others(4): Show |
7 | 164 | 0.0427 | 20 | c.321 others(39): Show |
GABBR2 | ENSG00000136928.7 | transcript | ENST00000259455.4 | protein_coding | 1/18 | chr9 | TogoVar | |||||||
GABBR2_chr9_98283109_98713935 | 98648116 | T | TGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0002 | a0002c0020 | a0002c0020t0037 | a0002c0020t0037g0001 | 1 | 164 | 0.0061 | 20 | c.321 others(39): Show |
GABBR2 | ENSG00000136928.7 | transcript | ENST00000259455.4 | protein_coding | 1/18 | chr9 | TogoVar | |||||||
GABBR2_chr9_98283109_98713935 | 98648116 | T | TGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01081.hp2 HG01952.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0026a0001c0001t0045others(4): Show | a0001c0001t0001g0138 a0001c0001t0026g0011 a0001c0001t0045g0091 others(5): Show |
8 | 164 | 0.0488 | 20 | c.321 others(39): Show |
GABBR2 | ENSG00000136928.7 | transcript | ENST00000259455.4 | protein_coding | 1/18 | chr9 | TogoVar | |||||||
GABBR2_chr9_98283109_98713935 | 98688394 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02976.hp2 |
a0002 | a0002c0004a0002c0018 | a0002c0004t0036a0002c0018t0002 | a0002c0004t0036g0046 a0002c0018t0002g0023 |
2 | 164 | 0.0122 | 20 | c.321 others(39): Show |
GABBR2 | ENSG00000136928.7 | transcript | ENST00000259455.4 | protein_coding | 1/18 | chr9 | TogoVar | |||||||
GABPB1_chr15_50270389_50360198 | 50282560 | G | GAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01243.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0003 a0001c0001t0004g0251 a0001c0001t0004g0261 others(3): Show |
7 | 366 | 0.0191 | 20 | c.999 others(37): Show |
GABPB1 | ENSG00000104064.18 | transcript | ENST00000380877.8 | protein_coding | 8/8 | chr15 | TogoVar | |||||||
GABPB1_chr15_50270389_50360198 | 50337075 | G | GTGTGTAT others(13): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 | 1 | 366 | 0.0027 | 20 | c.-1+ others(37): Show |
GABPB1 | ENSG00000104064.18 | transcript | ENST00000380877.8 | protein_coding | 1/8 | chr15 | TogoVar | |||||||
GABRA1_chr5_161843120_161904971 | 161850081 | T | TTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG01943.hp1 HG02738.hp1 HG03704.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0014 a0001c0002t0002g0053 a0001c0002t0002g0131 others(1): Show |
5 | 394 | 0.0127 | 20 | c.-15 others(35): Show |
GABRA1 | ENSG00000022355.18 | transcript | ENST00000393943.10 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GABRA2_chr4_46238548_46395128 | 46249034 | A | ATGTGTGT others(13): Show |
3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(33): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0001t0009a0001c0001t0010others(24): Show | a0001c0001t0007g0086 a0001c0001t0007g0087 a0001c0001t0007g0095 others(33): Show |
36 | 258 | 0.1395 | 20 | c.*12 others(31): Show |
GABRA2 | ENSG00000151834.16 | transcript | ENST00000381620.9 | protein_coding | 10/10 | 1273 | chr4 | TogoVar | ||||||
GABRA2_chr4_46238548_46395128 | 46264986 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00544.hp1 others(28): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0010a0001c0001t0019others(27): Show | a0001c0001t0002g0097 a0001c0001t0010g0108 a0001c0001t0019g0060 others(28): Show |
31 | 258 | 0.1202 | 20 | c.857 others(37): Show |
GABRA2 | ENSG00000151834.16 | transcript | ENST00000381620.9 | protein_coding | 8/9 | chr4 | TogoVar | |||||||
GABRA2_chr4_46238548_46395128 | 46289879 | T | TTTTATTT others(13): Show |
intron_variant | MODIFIER | HG02717.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0104a0001c0001t0153 | a0001c0001t0104g0100 a0001c0001t0153g0169 |
2 | 258 | 0.0078 | 20 | c.856 others(39): Show |
GABRA2 | ENSG00000151834.16 | transcript | ENST00000381620.9 | protein_coding | 8/9 | chr4 | TogoVar | |||||||
GABRA2_chr4_46238548_46395128 | 46297476 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00621.hp1 HG00673.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0031others(11): Show | a0001c0001t0001g0073 a0001c0001t0010g0109 a0001c0001t0031g0162 others(11): Show |
14 | 258 | 0.0543 | 20 | c.856 others(37): Show |
GABRA2 | ENSG00000151834.16 | transcript | ENST00000381620.9 | protein_coding | 8/9 | chr4 | TogoVar | |||||||
GABRA2_chr4_46238548_46395128 | 46330591 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0002 | a0001c0002t0190 | a0001c0002t0190g0248 | 1 | 258 | 0.0039 | 20 | c.255 others(37): Show |
GABRA2 | ENSG00000151834.16 | transcript | ENST00000381620.9 | protein_coding | 4/9 | chr4 | TogoVar | |||||||
GABRA2_chr4_46238548_46395128 | 46389802 | G | GGAGAGAG others(13): Show |
5_prime_UTR_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0139 | a0001c0001t0139g0156 | 1 | 258 | 0.0039 | 20 | c.-98 others(27): Show |
GABRA2 | ENSG00000151834.16 | transcript | ENST00000381620.9 | protein_coding | 1/10 | 1097 | chr4 | TogoVar | ||||||
GABRA2_chr4_46238548_46395128 | 46390202 | T | TCCCCCCC others(13): Show |
upstream_gene_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0201 | 1 | 258 | 0.0039 | 20 | c.-47 others(29): Show |
GABRA2 | ENSG00000151834.16 | transcript | ENST00000381620.9 | protein_coding | 75 | chr4 | TogoVar | |||||||
GABRA2_chr4_46238548_46395128 | 46390202 | T | TCCCCCCC others(13): Show |
upstream_gene_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0002 | a0001c0002t0188 | a0001c0002t0188g0245 | 1 | 258 | 0.0039 | 20 | c.-47 others(29): Show |
GABRA2 | ENSG00000151834.16 | transcript | ENST00000381620.9 | protein_coding | 75 | chr4 | TogoVar | |||||||
GABRA4_chr4_46913900_46998581 | 46921968 | A | ACCATCTT others(13): Show |
3_prime_UTR_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0265 | 1 | 370 | 0.0027 | 20 | c.*62 others(31): Show |
GABRA4 | ENSG00000109158.11 | transcript | ENST00000264318.4 | protein_coding | 9/9 | 6256 | chr4 | TogoVar | ||||||
GABRA4_chr4_46913900_46998581 | 46950716 | A | AAAATAAA others(13): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG00558.hp2 others(83): Show |
a0001a0002a0005 | a0001c0001a0001c0009a0001c0010others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(34): Show | a0001c0001t0002g0329 a0001c0001t0004g0186 a0001c0001t0005g0013 others(75): Show |
86 | 370 | 0.2324 | 20 | c.113 others(41): Show |
GABRA4 | ENSG00000109158.11 | transcript | ENST00000264318.4 | protein_coding | 8/8 | chr4 | TogoVar | |||||||
GABRA4_chr4_46913900_46998581 | 46977330 | A | AAGGGAGG others(13): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG00642.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(12): Show | a0001c0001t0001g0308 a0001c0001t0001g0314 a0001c0001t0002g0329 others(19): Show |
23 | 370 | 0.0622 | 20 | c.494 others(33): Show |
GABRA4 | ENSG00000109158.11 | transcript | ENST00000264318.4 | protein_coding | 4/8 | chr4 | TogoVar | |||||||
GABRA5_chr15_26862062_26954208 | 26911388 | C | CACACACA others(13): Show |
intron_variant | MODIFIER | HG02015.hp2 HG02071.hp1 HG02132.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0083 a0001c0001t0001g0132 a0001c0001t0001g0262 others(4): Show |
7 | 376 | 0.0186 | 20 | c.498 others(37): Show |
GABRA5 | ENSG00000186297.12 | transcript | ENST00000335625.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GABRB1_chr4_47026567_47431447 | 47155916 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG01361.hp2 HG02056.hp1 HG02735.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(4): Show | a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0074 others(8): Show |
11 | 158 | 0.0696 | 20 | c.241 others(37): Show |
GABRB1 | ENSG00000163288.14 | transcript | ENST00000295454.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GABRB1_chr4_47026567_47431447 | 47350183 | T | TTATATAT others(13): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0104 | 1 | 158 | 0.0063 | 20 | c.544 others(39): Show |
GABRB1 | ENSG00000163288.14 | transcript | ENST00000295454.8 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GABRB1_chr4_47026567_47431447 | 47350218 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0145 | 1 | 158 | 0.0063 | 20 | c.544 others(39): Show |
GABRB1 | ENSG00000163288.14 | transcript | ENST00000295454.8 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GABRB1_chr4_47026567_47431447 | 47400526 | G | GTCTCTCT others(13): Show |
intron_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0105 | 1 | 158 | 0.0063 | 20 | c.545 others(37): Show |
GABRB1 | ENSG00000163288.14 | transcript | ENST00000295454.8 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GABRB2_chr5_161283436_161551725 | 161341968 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0094 | 1 | 266 | 0.0038 | 20 | c.542 others(37): Show |
GABRB2 | ENSG00000145864.14 | transcript | ENST00000393959.6 | protein_coding | 5/9 | chr5 | TogoVar | |||||||
GABRB2_chr5_161283436_161551725 | 161359440 | G | GACACACA others(13): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG02735.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0003t0021 | a0001c0001t0004g0052 a0001c0003t0021g0149 a0001c0003t0021g0150 |
3 | 266 | 0.0113 | 20 | c.542 others(39): Show |
GABRB2 | ENSG00000145864.14 | transcript | ENST00000393959.6 | protein_coding | 5/9 | chr5 | TogoVar | |||||||
GABRB2_chr5_161283436_161551725 | 161416696 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01256.hp2 HG01258.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0200 a0001c0001t0003g0070 a0001c0001t0003g0076 others(8): Show |
11 | 266 | 0.0414 | 20 | c.459 others(37): Show |
GABRB2 | ENSG00000145864.14 | transcript | ENST00000393959.6 | protein_coding | 4/9 | chr5 | TogoVar | |||||||
GABRB2_chr5_161283436_161551725 | 161527183 | A | ACCTAAGG others(13): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01516.hp1 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0017 | a0001c0001t0001g0263 a0001c0001t0017g0262 a0001c0001t0017g0264 |
3 | 266 | 0.0113 | 20 | c.237 others(39): Show |
GABRB2 | ENSG00000145864.14 | transcript | ENST00000393959.6 | protein_coding | 3/9 | chr5 | TogoVar | |||||||
GABRB2_chr5_161283436_161551725 | 161527842 | G | GAGTGCGA others(13): Show |
intron_variant | MODIFIER | HG02647.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0033 | a0001c0001t0001g0020 a0001c0001t0033g0259 |
2 | 266 | 0.0075 | 20 | c.237 others(39): Show |
GABRB2 | ENSG00000145864.14 | transcript | ENST00000393959.6 | protein_coding | 3/9 | chr5 | TogoVar | |||||||
GABRB3_chr15_26538552_26778066 | 26554017 | C | CTATGTAT others(13): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0043 | 1 | 204 | 0.0049 | 20 | c.108 others(39): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 8/8 | chr15 | TogoVar | |||||||
GABRB3_chr15_26538552_26778066 | 26554021 | T | TTATATAT others(13): Show |
intron_variant | MODIFIER | HG00140.hp1 HG03710.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0014 | a0001c0001t0004g0160 a0001c0001t0014g0196 |
2 | 204 | 0.0098 | 20 | c.108 others(39): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 8/8 | chr15 | TogoVar | |||||||
GABRB3_chr15_26538552_26778066 | 26554021 | T | TTTTATAT others(13): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02615.hp2 HG02622.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0033 | a0001c0001t0005g0009 a0001c0001t0005g0025 a0001c0001t0005g0026 others(5): Show |
8 | 204 | 0.0392 | 20 | c.108 others(39): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 8/8 | chr15 | TogoVar | |||||||
GABRB3_chr15_26538552_26778066 | 26554039 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG02717.hp1 NA18968.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0024 a0001c0001t0002g0055 |
2 | 204 | 0.0098 | 20 | c.108 others(39): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 8/8 | chr15 | TogoVar | |||||||
GABRB3_chr15_26538552_26778066 | 26554043 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0202 | 1 | 204 | 0.0049 | 20 | c.108 others(39): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 8/8 | chr15 | TogoVar | |||||||
GABRB3_chr15_26538552_26778066 | 26554176 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | HG02015.hp1 HG02040.hp2 HG02293.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012a0001c0001t0013 | a0001c0001t0001g0048 a0001c0001t0001g0109 a0001c0001t0001g0126 others(4): Show |
7 | 204 | 0.0343 | 20 | c.108 others(39): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 8/8 | chr15 | TogoVar | |||||||
GABRB3_chr15_26538552_26778066 | 26586397 | A | AACACACA others(13): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02155.hp2 HG02258.hp2 others(9): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(2): Show | a0001c0001t0001g0111 a0001c0001t0001g0180 a0001c0001t0001g0187 others(9): Show |
12 | 204 | 0.0588 | 20 | c.462 others(37): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 4/8 | chr15 | TogoVar | |||||||
GABRB3_chr15_26538552_26778066 | 26760809 | G | GCACACAC others(13): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0079 | 1 | 204 | 0.0049 | 20 | c.240 others(39): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 3/8 | chr15 | TogoVar | |||||||
GABRB3_chr15_26538552_26778066 | 26763607 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0084 | 1 | 204 | 0.0049 | 20 | c.240 others(37): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 3/8 | chr15 | TogoVar | |||||||
GABRD_chr1_2014345_2035758 | 2015938 | A | ATGGGGCA others(13): Show |
upstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 364 | 0.0028 | 20 | c.-34 others(31): Show |
GABRD | ENSG00000187730.9 | transcript | ENST00000378585.7 | protein_coding | 3406 | chr1 | TogoVar | |||||||
GABRD_chr1_2014345_2035758 | 2018334 | A | AATAACAT others(13): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 HG03579.hp2 NA20129.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0006 a0001c0001t0001g0128 a0001c0002t0001g0036 |
3 | 364 | 0.0082 | 20 | c.-10 others(31): Show |
GABRD | ENSG00000187730.9 | transcript | ENST00000378585.7 | protein_coding | 1010 | chr1 | TogoVar | |||||||
GABRG1_chr4_46030769_46129054 | 46048370 | A | AGAAGGAA others(13): Show |
intron_variant | MODIFIER | HG01952.hp2 HG02602.hp1 NA20129.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0005 | a0001c0002t0002g0060 a0001c0002t0005g0058 a0001c0002t0005g0124 |
3 | 308 | 0.0097 | 20 | c.113 others(39): Show |
GABRG1 | ENSG00000163285.8 | transcript | ENST00000295452.5 | protein_coding | 8/8 | chr4 | TogoVar | |||||||
GABRG2_chr5_162062773_162160526 | 162109388 | T | TTATATAT others(13): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0257 | 1 | 328 | 0.0031 | 20 | c.769 others(37): Show |
GABRG2 | ENSG00000113327.17 | transcript | ENST00000639213.2 | protein_coding | 6/9 | chr5 | TogoVar | |||||||
GABRG2_chr5_162062773_162160526 | 162109389 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | HG03209.hp1 HG03516.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0005 | a0001c0001t0002g0029 a0001c0004t0005g0237 |
2 | 328 | 0.0061 | 20 | c.769 others(37): Show |
GABRG2 | ENSG00000113327.17 | transcript | ENST00000639213.2 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GABRG2_chr5_162062773_162160526 | 162109420 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG00438.hp1 NA19007.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0133 a0001c0001t0003g0109 |
2 | 328 | 0.0061 | 20 | c.769 others(37): Show |
GABRG2 | ENSG00000113327.17 | transcript | ENST00000639213.2 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GABRG2_chr5_162062773_162160526 | 162109420 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0247 | 1 | 328 | 0.0031 | 20 | c.769 others(37): Show |
GABRG2 | ENSG00000113327.17 | transcript | ENST00000639213.2 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |