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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GABPB1_chr15_50270389_50360198 | 50300428 | TGTTTTTG | T | intron_variant | MODIFIER | HG00438.hp1 HG00673.hp1 HG01346.hp2 others(50): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 a0001c0001t0002g0011 a0001c0001t0002g0012 others(48): Show |
53 | 366 | 0.1448 | -7 | c.697 others(22): Show |
GABPB1 | ENSG00000104064.18 | transcript | ENST00000380877.8 | protein_coding | 6/8 | chr15 | TogoVar | |||||||
GABPB1_chr15_50270389_50360198 | 50337122 | TATATATA | T | intron_variant | MODIFIER | HG01952.hp1 HG02109.hp1 HG02486.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 a0001c0001t0001g0130 a0001c0001t0001g0173 others(4): Show |
7 | 366 | 0.0191 | -7 | c.-1+ others(24): Show |
GABPB1 | ENSG00000104064.18 | transcript | ENST00000380877.8 | protein_coding | 1/8 | chr15 | TogoVar | |||||||
GABPB1_chr15_50270389_50360198 | 50340547 | CAAAAAAA | C | intron_variant | MODIFIER | HG00609.hp2 HG00738.hp2 HG01070.hp1 others(47): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(2): Show | a0001c0001t0003g0085 a0001c0001t0003g0087 a0001c0001t0003g0088 others(46): Show |
50 | 366 | 0.1366 | -7 | c.-1+ others(24): Show |
GABPB1 | ENSG00000104064.18 | transcript | ENST00000380877.8 | protein_coding | 1/8 | chr15 | TogoVar | |||||||
GABPB1_chr15_50270389_50360198 | 50340880 | AATATTAC | A | intron_variant | MODIFIER | HG00408.hp2 HG01167.hp2 HG01517.hp1 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0002g0038 others(30): Show |
33 | 366 | 0.0902 | -7 | c.-1+ others(24): Show |
GABPB1 | ENSG00000104064.18 | transcript | ENST00000380877.8 | protein_coding | 1/8 | chr15 | TogoVar | |||||||
GABPB1_chr15_50270389_50360198 | 50340916 | AATATTAC | A | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp2 others(107): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0002g0001 a0001c0001t0002g0011 a0001c0001t0002g0013 others(104): Show |
110 | 366 | 0.3006 | -7 | c.-1+ others(24): Show |
GABPB1 | ENSG00000104064.18 | transcript | ENST00000380877.8 | protein_coding | 1/8 | chr15 | TogoVar | |||||||
GABPB1_chr15_50270389_50360198 | 50340952 | AATATTAC | A | intron_variant | MODIFIER | HG00408.hp2 HG00609.hp2 HG00735.hp1 others(78): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0305 a0001c0001t0002g0019 a0001c0001t0002g0022 others(76): Show |
81 | 366 | 0.2213 | -7 | c.-1+ others(24): Show |
GABPB1 | ENSG00000104064.18 | transcript | ENST00000380877.8 | protein_coding | 1/8 | chr15 | TogoVar | |||||||
GABPB2_chr1_151065761_151130542 | 151099179 | CTTTATTT | C | intron_variant | MODIFIER | HG02109.hp2 HG02257.hp2 HG02451.hp2 others(7): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0009a0004c0004t0009a0004c0004t0016others(1): Show | a0001c0001t0009g0096 a0004c0004t0009g0098 a0004c0004t0009g0099 others(7): Show |
10 | 264 | 0.0379 | -7 | c.622 others(24): Show |
GABPB2 | ENSG00000143458.12 | transcript | ENST00000368918.8 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
GABPB2_chr1_151065761_151130542 | 151129194 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG00673.hp2 HG01175.hp1 HG01891.hp1 others(18): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0004others(2): Show | a0001c0001t0026a0001c0001t0068a0001c0001t0072others(9): Show | a0001c0001t0026g0093 a0001c0001t0026g0095 a0001c0001t0068g0094 others(18): Show |
21 | 264 | 0.0796 | -7 | c.*10 others(20): Show |
GABPB2 | ENSG00000143458.12 | transcript | ENST00000368918.8 | protein_coding | 3653 | chr1 | TogoVar | |||||||
GABRA2_chr4_46238548_46395128 | 46389801 | GGGAGAGA | G | 5_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG01167.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0043a0001c0001t0044a0001c0001t0095others(1): Show | a0001c0001t0043g0005 a0001c0001t0044g0004 a0001c0001t0095g0081 others(1): Show |
4 | 258 | 0.0155 | -7 | c.-84 others(14): Show |
GABRA2 | ENSG00000151834.16 | transcript | ENST00000381620.9 | protein_coding | 1/10 | 1096 | chr4 | TogoVar | ||||||
GABRA3_chrX_152161234_152456315 | 152212325 | AAAAAAAT | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00639.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0118 others(21): Show |
24 | 204 | 0.1177 | -7 | c.635 others(24): Show |
GABRA3 | ENSG00000011677.13 | transcript | ENST00000370314.9 | protein_coding | 6/9 | chrX | TogoVar | |||||||
GABRA3_chrX_152161234_152456315 | 152216388 | AAACACAC | A | intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 204 | 0.0049 | -7 | c.635 others(24): Show |
GABRA3 | ENSG00000011677.13 | transcript | ENST00000370314.9 | protein_coding | 6/9 | chrX | TogoVar | |||||||
GABRA3_chrX_152161234_152456315 | 152241307 | CTCAGGGG | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0102 a0001c0001t0001g0109 a0001c0001t0001g0115 others(31): Show |
34 | 204 | 0.1667 | -7 | c.551 others(26): Show |
GABRA3 | ENSG00000011677.13 | transcript | ENST00000370314.9 | protein_coding | 5/9 | chrX | TogoVar | |||||||
GABRA3_chrX_152161234_152456315 | 152322844 | CTTTTTTT | C | intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0084 | 1 | 204 | 0.0049 | -7 | c.262 others(26): Show |
GABRA3 | ENSG00000011677.13 | transcript | ENST00000370314.9 | protein_coding | 3/9 | chrX | TogoVar | |||||||
GABRA3_chrX_152161234_152456315 | 152374332 | CTTTTCTT | C | intron_variant | MODIFIER | HG02922.hp2 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0192 a0001c0001t0013g0180 |
2 | 204 | 0.0098 | -7 | c.-26 others(24): Show |
GABRA3 | ENSG00000011677.13 | transcript | ENST00000370314.9 | protein_coding | 1/9 | chrX | TogoVar | |||||||
GABRA3_chrX_152161234_152456315 | 152421125 | ACACACAC | A | intron_variant | MODIFIER | HG02922.hp1 HG03209.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0194 |
3 | 204 | 0.0147 | -7 | c.-27 others(26): Show |
GABRA3 | ENSG00000011677.13 | transcript | ENST00000370314.9 | protein_coding | 1/9 | chrX | TogoVar | |||||||
GABRA3_chrX_152161234_152456315 | 152453129 | ATGTAACT | A | upstream_gene_variant | MODIFIER | HG01891.hp2 HG03453.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0008g0077 |
3 | 204 | 0.0147 | -7 | c.-20 others(18): Show |
GABRA3 | ENSG00000011677.13 | transcript | ENST00000370314.9 | protein_coding | 1815 | chrX | TogoVar | |||||||
GABRA6_chr5_161680721_161707592 | 161691288 | CTTTTTTT | C | intron_variant | MODIFIER | HG00642.hp2 HG01081.hp1 HG01167.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0127 a0001c0001t0001g0128 others(3): Show |
12 | 424 | 0.0283 | -7 | c.827 others(22): Show |
GABRA6 | ENSG00000145863.11 | transcript | ENST00000274545.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GABRB1_chr4_47026567_47431447 | 47042395 | ATGTATGT | A | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0086 a0001c0003t0002g0103 |
2 | 158 | 0.0127 | -7 | c.240 others(24): Show |
GABRB1 | ENSG00000163288.14 | transcript | ENST00000295454.8 | protein_coding | 3/8 | chr4 | TogoVar | |||||||
GABRB1_chr4_47026567_47431447 | 47077972 | TATATATA | T | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00639.hp1 others(74): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0038 a0001c0001t0001g0067 a0001c0001t0001g0084 others(74): Show |
77 | 158 | 0.4873 | -7 | c.240 others(26): Show |
GABRB1 | ENSG00000163288.14 | transcript | ENST00000295454.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GABRB1_chr4_47026567_47431447 | 47283356 | CTTTTTTT | C | intron_variant | MODIFIER | HG00642.hp2 HG02056.hp2 HG02145.hp2 others(13): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0151 a0001c0001t0002g0073 a0001c0001t0002g0077 others(13): Show |
16 | 158 | 0.1013 | -7 | c.462 others(26): Show |
GABRB1 | ENSG00000163288.14 | transcript | ENST00000295454.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GABRB2_chr5_161283436_161551725 | 161416696 | CAAAAAAA | C | intron_variant | MODIFIER | HG01081.hp2 HG01168.hp2 HG01891.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0009a0001c0001t0017others(3): Show | a0001c0001t0001g0019 a0001c0001t0001g0069 a0001c0001t0009g0122 others(4): Show |
7 | 266 | 0.0263 | -7 | c.459 others(24): Show |
GABRB2 | ENSG00000145864.14 | transcript | ENST00000393959.6 | protein_coding | 4/9 | chr5 | TogoVar | |||||||
GABRB3_chr15_26538552_26778066 | 26554154 | ATATAAAG | A | intron_variant | MODIFIER | HG02258.hp2 HG02970.hp2 HG03041.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0036 a0001c0001t0010g0046 a0001c0001t0010g0049 others(1): Show |
4 | 204 | 0.0196 | -7 | c.108 others(26): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 8/8 | chr15 | TogoVar | |||||||
GABRB3_chr15_26538552_26778066 | 26554184 | ATATATAC | A | intron_variant | MODIFIER | HG01071.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0027a0001c0001t0032 | a0001c0001t0027g0027 a0001c0001t0032g0022 |
2 | 204 | 0.0098 | -7 | c.108 others(26): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 8/8 | chr15 | TogoVar | |||||||
GABRB3_chr15_26538552_26778066 | 26674415 | AAAAAAAG | A | intron_variant | MODIFIER | HG00673.hp1 HG01099.hp1 HG02293.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0035 a0001c0001t0001g0061 a0001c0001t0001g0179 others(2): Show |
5 | 204 | 0.0245 | -7 | c.241 others(26): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 3/8 | chr15 | TogoVar | |||||||
GABRB3_chr15_26538552_26778066 | 26704608 | TACTGTAA | T | intron_variant | MODIFIER | HG00140.hp1 HG00741.hp1 HG00741.hp2 others(23): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0065 a0001c0001t0001g0164 a0001c0001t0001g0178 others(23): Show |
26 | 204 | 0.1275 | -7 | c.240 others(26): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 3/8 | chr15 | TogoVar | |||||||
GABRB3_chr15_26538552_26778066 | 26747952 | CTTTTTTT | C | intron_variant | MODIFIER | HG00323.hp1 HG02109.hp1 HG02698.hp2 others(12): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0016 others(12): Show |
15 | 204 | 0.0735 | -7 | c.240 others(26): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 3/8 | chr15 | TogoVar | |||||||
GABRB3_chr15_26538552_26778066 | 26767252 | AGGGAAAC | A | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG01891.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0002g0146 a0001c0001t0003g0145 a0001c0001t0003g0149 others(5): Show |
8 | 204 | 0.0392 | -7 | c.240 others(24): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 3/8 | chr15 | TogoVar | |||||||
GABRG1_chr4_46030769_46129054 | 46055959 | CGGGGGGA | C | intron_variant | MODIFIER | HG00597.hp1 HG00642.hp2 NA18945.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0026 | a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0074 others(2): Show |
5 | 308 | 0.0162 | -7 | c.916 others(24): Show |
GABRG1 | ENSG00000163285.8 | transcript | ENST00000295452.5 | protein_coding | 7/8 | chr4 | TogoVar | |||||||
GABRG1_chr4_46030769_46129054 | 46056150 | TTAAAAAA | T | intron_variant | MODIFIER | HG00558.hp1 HG02083.hp2 NA18950.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 a0001c0001t0001g0200 a0001c0001t0001g0201 others(2): Show |
5 | 308 | 0.0162 | -7 | c.916 others(24): Show |
GABRG1 | ENSG00000163285.8 | transcript | ENST00000295452.5 | protein_coding | 7/8 | chr4 | TogoVar | |||||||
GABRG2_chr5_162062773_162160526 | 162078388 | TATATATA | T | intron_variant | MODIFIER | NA18979.hp2 NA18993.hp2 NA19003.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 a0001c0001t0002g0031 a0001c0001t0002g0032 others(1): Show |
5 | 328 | 0.0152 | -7 | c.107 others(26): Show |
GABRG2 | ENSG00000113327.17 | transcript | ENST00000639213.2 | protein_coding | 1/9 | chr5 | TogoVar | |||||||
GABRG2_chr5_162062773_162160526 | 162096598 | TGAACAAG | T | intron_variant | MODIFIER | HG02258.hp2 HG02965.hp2 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0309 a0001c0001t0004g0310 a0001c0001t0004g0311 |
3 | 328 | 0.0092 | -7 | c.327 others(24): Show |
GABRG2 | ENSG00000113327.17 | transcript | ENST00000639213.2 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GABRG3_chr15_26966181_27546984 | 27194941 | GTTTATTA | G | intron_variant | MODIFIER | HG01099.hp1 HG03139.hp1 NA18522.hp2 others(1): Show |
a0001 | a0001c0003a0001c0004a0001c0016 | a0001c0003t0001a0001c0004t0010a0001c0004t0011others(1): Show | a0001c0003t0001g0065 a0001c0004t0010g0075 a0001c0004t0011g0078 others(1): Show |
4 | 92 | 0.0435 | -7 | c.271 others(28): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GABRG3_chr15_26966181_27546984 | 27369806 | CAAAAAAA | C | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01884.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0002t0006a0001c0003t0001others(6): Show | a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0002t0006g0052 others(8): Show |
11 | 92 | 0.1196 | -7 | c.574 others(26): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GABRG3_chr15_26966181_27546984 | 27388225 | GAAAGGGA | G | intron_variant | MODIFIER | HG03516.hp1 NA18906.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0006 | a0001c0001t0001g0038 a0001c0003t0006g0034 |
2 | 92 | 0.0217 | -7 | c.574 others(26): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 5/9 | chr15 | TogoVar | |||||||
GABRG3_chr15_26966181_27546984 | 27390525 | ACAGGGCT | A | intron_variant | MODIFIER | HG02258.hp1 HG06807.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0022 | a0001c0001t0001g0073 a0001c0003t0022g0058 |
2 | 92 | 0.0217 | -7 | c.574 others(26): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GABRG3_chr15_26966181_27546984 | 27509355 | CTGATATT | C | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00738.hp2 others(61): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(36): Show | a0001c0001t0001g0005 a0001c0001t0001g0021 a0001c0001t0001g0026 others(61): Show |
64 | 92 | 0.6957 | -7 | c.713 others(26): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GABRR2_chr6_89249464_89320299 | 89292708 | TATATATC | T | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00438.hp2 others(66): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0037 a0001c0001t0001g0051 a0001c0001t0001g0097 others(66): Show |
69 | 366 | 0.1885 | -7 | c.220 others(24): Show |
GABRR2 | ENSG00000111886.11 | transcript | ENST00000402938.4 | protein_coding | 2/8 | chr6 | TogoVar | |||||||
GABRR2_chr6_89249464_89320299 | 89306842 | GAAGGAAA | G | intron_variant | MODIFIER | HG01081.hp2 HG02145.hp1 HG02451.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0028a0001c0002t0003a0001c0005t0002others(4): Show | a0001c0001t0028g0187 a0001c0002t0003g0293 a0001c0005t0002g0189 others(5): Show |
8 | 366 | 0.0219 | -7 | c.114 others(24): Show |
GABRR2 | ENSG00000111886.11 | transcript | ENST00000402938.4 | protein_coding | 1/8 | chr6 | TogoVar | |||||||
GAD2_chr10_26211774_26309558 | 26245163 | AAAAAAAG | A | intron_variant | MODIFIER | HG01346.hp2 HG02293.hp1 HG02559.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 others(5): Show |
8 | 294 | 0.0272 | -7 | c.841 others(22): Show |
GAD2 | ENSG00000136750.13 | transcript | ENST00000376261.8 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GADD45B_chr19_2471127_2483257 | 2480593 | AAACAAAC | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(215): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(22): Show |
218 | 460 | 0.4739 | -7 | c.*29 others(18): Show |
GADD45B | ENSG00000099860.9 | transcript | ENST00000215631.9 | protein_coding | 2337 | chr19 | TogoVar | |||||||
GADL1_chr3_30721197_30899661 | 30768553 | GAGAGAGA | G | intron_variant | MODIFIER | HG00735.hp1 HG01109.hp2 HG02004.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(2): Show | a0001c0001t0001g0131 a0001c0001t0002g0020 a0001c0001t0002g0055 others(15): Show |
18 | 282 | 0.0638 | -7 | c.139 others(26): Show |
GADL1 | ENSG00000144644.15 | transcript | ENST00000282538.10 | protein_coding | 14/14 | chr3 | TogoVar | |||||||
GADL1_chr3_30721197_30899661 | 30770813 | CAAGAGAA | C | intron_variant | MODIFIER | HG01255.hp2 HG02486.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0014 | a0001c0001t0004g0199 a0001c0001t0004g0200 a0001c0001t0014g0015 |
3 | 282 | 0.0106 | -7 | c.139 others(26): Show |
GADL1 | ENSG00000144644.15 | transcript | ENST00000282538.10 | protein_coding | 14/14 | chr3 | TogoVar | |||||||
GADL1_chr3_30721197_30899661 | 30778163 | TTTACTTA | T | intron_variant | MODIFIER | HG00544.hp1 HG01255.hp2 HG02040.hp1 others(36): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0043 a0001c0001t0001g0068 a0001c0001t0001g0182 others(36): Show |
39 | 282 | 0.1383 | -7 | c.139 others(21): Show |
GADL1 | ENSG00000144644.15 | transcript | ENST00000282538.10 | protein_coding | 14/14 | chr3 | TogoVar | |||||||
GADL1_chr3_30721197_30899661 | 30785818 | CATTAAAT | C | intron_variant | MODIFIER | HG01167.hp1 HG02258.hp2 HG02280.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0104 a0001c0001t0001g0174 a0001c0001t0001g0198 others(16): Show |
19 | 282 | 0.0674 | -7 | c.130 others(24): Show |
GADL1 | ENSG00000144644.15 | transcript | ENST00000282538.10 | protein_coding | 13/14 | chr3 | TogoVar | |||||||
GADL1_chr3_30721197_30899661 | 30816530 | CTTTTTTT | C | intron_variant | MODIFIER | HG01074.hp2 HG01106.hp2 HG01361.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 others(8): Show |
11 | 282 | 0.0390 | -7 | c.105 others(28): Show |
GADL1 | ENSG00000144644.15 | transcript | ENST00000282538.10 | protein_coding | 11/14 | chr3 | TogoVar | |||||||
GAGE12E_chrX_49546289_49563645 | 49550873 | CGTTTTAG | C | upstream_gene_variant | MODIFIER | HG02970.hp2 | a0004 | a0004c0003 | a0004c0003t0008 | a0004c0003t0008g0014 | 1 | 100 | 0.0100 | -7 | c.-53 others(16): Show |
GAGE12E | ENSG00000216649.5 | transcript | ENST00000381698.5 | protein_coding | 415 | chrX | TogoVar | |||||||
GAGE12F_chrX_49555842_49573205 | 49567757 | GAAGTTGA | G | intron_variant | MODIFIER | NA18978.hp2 | a0012 | a0012c0012 | a0012c0012t0001 | a0012c0012t0001g0088 | 1 | 99 | 0.0101 | -7 | c.332 others(22): Show |
GAGE12F | ENSG00000236362.9 | transcript | ENST00000440137.2 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GAGE12H_chrX_49574949_49592301 | 49586017 | TTTATTTA | T | intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 116 | 0.0086 | -7 | c.332 others(24): Show |
GAGE12H | ENSG00000224902.6 | transcript | ENST00000381722.2 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GAK_chr4_844277_937316 | 897016 | AGAGCCTC | A | intron_variant | MODIFIER | HG02135.hp1 HG03704.hp1 HG03710.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0350 a0001c0001t0001g0352 a0001c0001t0007g0351 |
3 | 390 | 0.0077 | -7 | c.652 others(22): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 6/27 | chr4 | TogoVar | |||||||
GAL3ST1_chr22_30549635_30579665 | 30554958 | ACCGCAGG | A | frameshift_variant | HIGH | NA19072.hp1 | a0012 | a0012c0011 | a0012c0011t0007 | a0012c0011t0007g0316 | 1 | 452 | 0.0022 | -7 | c.126 others(16): Show |
p.Leu others(5): Show |
GAL3ST1 | ENSG00000128242.13 | transcript | ENST00000406361.6 | protein_coding | 4/4 | 1585/1909 | 1260/1272 | 420/423 | chr22 | TogoVar |