| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 | 98505423 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 HG03139.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0015a0002c0012 | a0001c0001t0008a0001c0015t0001a0002c0012t0006 | a0001c0001t0008g0121a0001c0015t0001g0076a0001c0015t0001g0135others(1): Show | 4 | 164 | 0.0244 | 8 | c.631 others(25): Show |
GABBR2 | ENSG00000136928.7 | transcript | ENST00000259455.4 | protein_coding | 3/18 | chr9 | TogoVar | ||||||
| GABBR2_chr9_98283109_98713935 | 98505457 | T | TGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02258.hp1 |
a0002 | a0002c0016 | a0002c0016t0027a0002c0016t0044 | a0002c0016t0027g0048a0002c0016t0044g0134 | 2 | 164 | 0.0122 | 8 | c.631 others(25): Show |
GABBR2 | ENSG00000136928.7 | transcript | ENST00000259455.4 | protein_coding | 3/18 | chr9 | TogoVar | ||||||
| GABBR2_chr9_98283109_98713935 | 98611457 | G | GGAATGAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00621.hp1 HG01516.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0005a0001c0002t0008a0001c0002t0012others(8): Show | a0001c0001t0005g0092a0001c0002t0008g0096a0001c0002t0012g0097others(8): Show | 11 | 164 | 0.0671 | 8 | c.322 others(27): Show |
GABBR2 | ENSG00000136928.7 | transcript | ENST00000259455.4 | protein_coding | 1/18 | chr9 | TogoVar | ||||||
| GABBR2_chr9_98283109_98713935 | 98620247 | T | TTCTCTCT others(1): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01192.hp2 HG01256.hp2 others(21): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(16): Show | a0001c0001t0001g0146a0001c0001t0001g0150a0001c0001t0003g0030others(21): Show | 24 | 164 | 0.1463 | 8 | c.322 others(27): Show |
GABBR2 | ENSG00000136928.7 | transcript | ENST00000259455.4 | protein_coding | 1/18 | chr9 | TogoVar | ||||||
| GABBR2_chr9_98283109_98713935 | 98640121 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG00741.hp1 HG02922.hp2 HG03486.hp2 |
a0001a0002 | a0001c0003a0002c0009a0002c0019 | a0001c0003t0022a0002c0009t0006a0002c0019t0006 | a0001c0003t0022g0083a0002c0009t0006g0109a0002c0019t0006g0067 | 3 | 164 | 0.0183 | 8 | c.322 others(27): Show |
GABBR2 | ENSG00000136928.7 | transcript | ENST00000259455.4 | protein_coding | 1/18 | chr9 | TogoVar | ||||||
| GABBR2_chr9_98283109_98713935 | 98648112 | T | TATAGATA others(1): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01169.hp1 HG03492.hp1 others(1): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0001t0003a0001c0013t0003 | a0001c0001t0001g0128a0001c0001t0003g0064a0001c0001t0003g0065others(1): Show | 4 | 164 | 0.0244 | 8 | c.321 others(27): Show |
GABBR2 | ENSG00000136928.7 | transcript | ENST00000259455.4 | protein_coding | 1/18 | chr9 | TogoVar | ||||||
| GABBR2_chr9_98283109_98713935 | 98648116 | T | TATAGATA others(1): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02135.hp2 NA18959.hp1 |
a0001a0002 | a0001c0002a0001c0029a0002c0010 | a0001c0002t0005a0001c0029t0046a0002c0010t0007 | a0001c0002t0005g0124a0001c0029t0046g0119a0002c0010t0007g0032 | 3 | 164 | 0.0183 | 8 | c.321 others(27): Show |
GABBR2 | ENSG00000136928.7 | transcript | ENST00000259455.4 | protein_coding | 1/18 | chr9 | TogoVar | ||||||
| GABBR2_chr9_98283109_98713935 | 98684169 | T | TAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01070.hp1 HG01106.hp1 others(19): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(15): Show | a0001c0001t0001g0146a0001c0001t0005g0143a0001c0001t0005g0160others(19): Show | 22 | 164 | 0.1342 | 8 | c.321 others(27): Show |
GABBR2 | ENSG00000136928.7 | transcript | ENST00000259455.4 | protein_coding | 1/18 | chr9 | TogoVar | ||||||
| GABBR2_chr9_98283109_98713935 | 98684169 | T | TTAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01169.hp1 HG01256.hp1 HG01884.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0015others(7): Show | a0001c0001t0001g0128a0001c0001t0011g0055a0001c0001t0015g0020others(8): Show | 11 | 164 | 0.0671 | 8 | c.321 others(27): Show |
GABBR2 | ENSG00000136928.7 | transcript | ENST00000259455.4 | protein_coding | 1/18 | chr9 | TogoVar | ||||||
| GABPB1_chr15_50270389_50360198 | 50292846 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01070.hp1 HG01074.hp2 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0085a0001c0001t0003g0086a0001c0001t0003g0090others(30): Show | 33 | 366 | 0.0902 | 8 | c.698 others(25): Show |
GABPB1 | ENSG00000104064.18 | transcript | ENST00000380877.8 | protein_coding | 6/8 | chr15 | TogoVar | ||||||
| GABPB1_chr15_50270389_50360198 | 50348043 | G | GAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01070.hp1 HG01074.hp2 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0085a0001c0001t0003g0087a0001c0001t0003g0088others(29): Show | 32 | 366 | 0.0874 | 8 | c.-1+ others(23): Show |
GABPB1 | ENSG00000104064.18 | transcript | ENST00000380877.8 | protein_coding | 1/8 | chr15 | TogoVar | ||||||
| GABPB1_chr15_50270389_50360198 | 50351660 | A | AGAGGGAG others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01884.hp2 HG02056.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0011 | a0001c0001t0003g0314a0001c0001t0003g0322a0001c0001t0003g0323others(25): Show | 29 | 366 | 0.0792 | 8 | c.-1+ others(23): Show |
GABPB1 | ENSG00000104064.18 | transcript | ENST00000380877.8 | protein_coding | 1/8 | chr15 | TogoVar | ||||||
| GABPB2_chr1_151065761_151130542 | 151070178 | C | CAAAAAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG02257.hp2 HG02451.hp2 HG02976.hp1 others(2): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0009a0004c0004t0009 | a0001c0001t0009g0096a0004c0004t0009g0098a0004c0004t0009g0099others(2): Show | 5 | 264 | 0.0189 | 8 | c.-75 others(17): Show |
GABPB2 | ENSG00000143458.12 | transcript | ENST00000368918.8 | protein_coding | 582 | chr1 | TogoVar | ||||||
| GABPB2_chr1_151065761_151130542 | 151071453 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01192.hp1 HG01243.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0003g0071a0001c0001t0004g0069a0001c0001t0005g0070others(4): Show | 7 | 264 | 0.0265 | 8 | c.-1+ others(21): Show |
GABPB2 | ENSG00000143458.12 | transcript | ENST00000368918.8 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| GABPB2_chr1_151065761_151130542 | 151080511 | C | CTAAATAA others(1): Show |
intron_variant | MODIFIER | HG02040.hp2 HG02647.hp2 HG02965.hp2 others(1): Show |
a0001a0008 | a0001c0001a0008c0008 | a0001c0001t0047a0001c0001t0074a0001c0001t0076others(1): Show | a0001c0001t0047g0042a0001c0001t0074g0264a0001c0001t0076g0249others(1): Show | 4 | 264 | 0.0152 | 8 | c.1-7 others(21): Show |
GABPB2 | ENSG00000143458.12 | transcript | ENST00000368918.8 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| GABPB2_chr1_151065761_151130542 | 151109351 | T | TATACACA others(1): Show |
intron_variant | MODIFIER | HG02004.hp2 HG02896.hp2 HG03041.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0029a0001c0001t0081others(1): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0029g0008others(2): Show | 5 | 264 | 0.0189 | 8 | c.922 others(25): Show |
GABPB2 | ENSG00000143458.12 | transcript | ENST00000368918.8 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| GABRA1_chr5_161843120_161904971 | 161850081 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01099.hp2 HG02027.hp2 others(33): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0007others(25): Show | 36 | 394 | 0.0914 | 8 | c.-15 others(23): Show |
GABRA1 | ENSG00000022355.18 | transcript | ENST00000393943.10 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| GABRA1_chr5_161843120_161904971 | 161892670 | A | AAAACAAA others(1): Show |
intron_variant | MODIFIER | HG01255.hp1 HG03492.hp2 NA18972.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0005 | a0001c0002t0002g0080a0001c0002t0002g0095a0001c0002t0005g0271 | 3 | 394 | 0.0076 | 8 | c.856 others(25): Show |
GABRA1 | ENSG00000022355.18 | transcript | ENST00000393943.10 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| GABRA2_chr4_46238548_46395128 | 46249034 | A | ATGTGTGT others(1): Show |
3_prime_UTR_variant | MODIFIER | HG01891.hp1 HG02109.hp2 HG02280.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0020a0001c0001t0027others(15): Show | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0078others(20): Show | 24 | 258 | 0.0930 | 8 | c.*12 others(19): Show |
GABRA2 | ENSG00000151834.16 | transcript | ENST00000381620.9 | protein_coding | 10/10 | 1273 | chr4 | TogoVar | |||||
| GABRA2_chr4_46238548_46395128 | 46273502 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02165.hp1 HG03927.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0135a0001c0002t0149a0001c0002t0191others(1): Show | a0001c0001t0135g0151a0001c0002t0149g0168a0001c0002t0191g0247others(1): Show | 4 | 258 | 0.0155 | 8 | c.857 others(27): Show |
GABRA2 | ENSG00000151834.16 | transcript | ENST00000381620.9 | protein_coding | 8/9 | chr4 | TogoVar | ||||||
| GABRA2_chr4_46238548_46395128 | 46289879 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG02809.hp2 HG02976.hp1 NA18522.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0130a0001c0001t0148 | a0001c0001t0001g0078a0001c0001t0001g0079a0001c0001t0130g0148others(1): Show | 4 | 258 | 0.0155 | 8 | c.856 others(27): Show |
GABRA2 | ENSG00000151834.16 | transcript | ENST00000381620.9 | protein_coding | 8/9 | chr4 | TogoVar | ||||||
| GABRA2_chr4_46238548_46395128 | 46291776 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG01433.hp2 HG01515.hp2 HG01516.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0051a0001c0002t0005a0001c0002t0006others(4): Show | a0001c0001t0051g0016a0001c0002t0005g0013a0001c0002t0006g0025others(6): Show | 9 | 258 | 0.0349 | 8 | c.856 others(27): Show |
GABRA2 | ENSG00000151834.16 | transcript | ENST00000381620.9 | protein_coding | 8/9 | chr4 | TogoVar | ||||||
| GABRA2_chr4_46238548_46395128 | 46297476 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01361.hp1 HG01515.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0034a0001c0001t0045others(12): Show | a0001c0001t0007g0095a0001c0001t0034g0181a0001c0001t0045g0006others(12): Show | 15 | 258 | 0.0581 | 8 | c.856 others(25): Show |
GABRA2 | ENSG00000151834.16 | transcript | ENST00000381620.9 | protein_coding | 8/9 | chr4 | TogoVar | ||||||
| GABRA2_chr4_46238548_46395128 | 46315940 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01516.hp1 HG01517.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0015a0001c0002t0016a0001c0002t0036others(3): Show | a0001c0002t0015g0014a0001c0002t0016g0020a0001c0002t0036g0198others(3): Show | 6 | 258 | 0.0233 | 8 | c.256 others(25): Show |
GABRA2 | ENSG00000151834.16 | transcript | ENST00000381620.9 | protein_coding | 4/9 | chr4 | TogoVar | ||||||
| GABRA2_chr4_46238548_46395128 | 46389802 | G | GGAGAGAG others(1): Show |
5_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00621.hp1 HG00673.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0030a0001c0001t0054a0001c0001t0055others(12): Show | a0001c0001t0030g0001a0001c0001t0054g0026a0001c0001t0055g0027others(17): Show | 21 | 258 | 0.0814 | 8 | c.-86 others(15): Show |
GABRA2 | ENSG00000151834.16 | transcript | ENST00000381620.9 | protein_coding | 1/10 | 1097 | chr4 | TogoVar | |||||
| GABRA2_chr4_46238548_46395128 | 46389802 | G | GGGGAGAG others(1): Show |
5_prime_UTR_variant | MODIFIER | HG01261.hp2 HG02647.hp1 NA18944.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0144a0001c0002t0017a0001c0002t0053others(1): Show | a0001c0001t0144g0161a0001c0002t0017g0022a0001c0002t0017g0023others(2): Show | 5 | 258 | 0.0194 | 8 | c.-79 others(15): Show |
GABRA2 | ENSG00000151834.16 | transcript | ENST00000381620.9 | protein_coding | 1/10 | 1097 | chr4 | TogoVar | |||||
| GABRA3_chrX_152161234_152456315 | 152182604 | A | ATATATAC others(1): Show |
intron_variant | MODIFIER | HG01891.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0129a0001c0001t0003g0140 | 2 | 204 | 0.0098 | 8 | c.114 others(27): Show |
GABRA3 | ENSG00000011677.13 | transcript | ENST00000370314.9 | protein_coding | 9/9 | chrX | TogoVar | ||||||
| GABRA3_chrX_152161234_152456315 | 152182632 | A | ATATATAG others(1): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0046 | 1 | 204 | 0.0049 | 8 | c.114 others(27): Show |
GABRA3 | ENSG00000011677.13 | transcript | ENST00000370314.9 | protein_coding | 9/9 | chrX | TogoVar | ||||||
| GABRA3_chrX_152161234_152456315 | 152215037 | G | GATATATA others(1): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0165 | 1 | 204 | 0.0049 | 8 | c.635 others(25): Show |
GABRA3 | ENSG00000011677.13 | transcript | ENST00000370314.9 | protein_coding | 6/9 | chrX | TogoVar | ||||||
| GABRA3_chrX_152161234_152456315 | 152225426 | A | ACACACAC others(1): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02074.hp1 HG02132.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0110a0001c0001t0001g0154a0001c0001t0001g0174others(25): Show | 28 | 204 | 0.1373 | 8 | c.552 others(23): Show |
GABRA3 | ENSG00000011677.13 | transcript | ENST00000370314.9 | protein_coding | 5/9 | chrX | TogoVar | ||||||
| GABRA3_chrX_152161234_152456315 | 152225432 | G | GCGCACAC others(1): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01099.hp1 HG01175.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0100a0001c0001t0001g0101a0001c0001t0001g0113others(23): Show | 26 | 204 | 0.1275 | 8 | c.552 others(23): Show |
GABRA3 | ENSG00000011677.13 | transcript | ENST00000370314.9 | protein_coding | 5/9 | chrX | TogoVar | ||||||
| GABRA3_chrX_152161234_152456315 | 152323079 | T | TTGATCTC others(1): Show |
intron_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0021 | 1 | 204 | 0.0049 | 8 | c.262 others(27): Show |
GABRA3 | ENSG00000011677.13 | transcript | ENST00000370314.9 | protein_coding | 3/9 | chrX | TogoVar | ||||||
| GABRA3_chrX_152161234_152456315 | 152406571 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 204 | 0.0049 | 8 | c.-26 others(27): Show |
GABRA3 | ENSG00000011677.13 | transcript | ENST00000370314.9 | protein_coding | 1/9 | chrX | TogoVar | ||||||
| GABRA3_chrX_152161234_152456315 | 152451326 | G | GCTCTCTC others(1): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG02257.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0025a0001c0001t0002g0037a0001c0001t0002g0051others(4): Show | 7 | 204 | 0.0343 | 8 | c.-20 others(17): Show |
GABRA3 | ENSG00000011677.13 | transcript | ENST00000370314.9 | protein_coding | 12 | chrX | TogoVar | ||||||
| GABRA5_chr15_26862062_26954208 | 26890426 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00741.hp2 others(34): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(2): Show | a0001c0001t0001g0034a0001c0001t0001g0038a0001c0001t0001g0039others(34): Show | 37 | 376 | 0.0984 | 8 | c.497 others(25): Show |
GABRA5 | ENSG00000186297.12 | transcript | ENST00000335625.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| GABRA5_chr15_26862062_26954208 | 26906127 | T | TTTTGTTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(182): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0006others(178): Show | 185 | 376 | 0.4920 | 8 | c.498 others(25): Show |
GABRA5 | ENSG00000186297.12 | transcript | ENST00000335625.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| GABRA5_chr15_26862062_26954208 | 26911371 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00642.hp2 HG00735.hp2 others(34): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0001g0016a0001c0001t0001g0052a0001c0001t0001g0059others(34): Show | 37 | 376 | 0.0984 | 8 | c.498 others(25): Show |
GABRA5 | ENSG00000186297.12 | transcript | ENST00000335625.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| GABRB1_chr4_47026567_47431447 | 47042414 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG01256.hp1 HG02717.hp2 HG02735.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0002t0004a0001c0004t0003others(2): Show | a0001c0001t0002g0143a0001c0002t0004g0055a0001c0004t0003g0043others(2): Show | 5 | 158 | 0.0317 | 8 | c.240 others(25): Show |
GABRB1 | ENSG00000163288.14 | transcript | ENST00000295454.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| GABRB1_chr4_47026567_47431447 | 47076634 | G | GCCGATTA others(1): Show |
intron_variant | MODIFIER | HG02818.hp2 HG02896.hp1 HG02922.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0004a0001c0001t0005a0001c0001t0008others(3): Show | a0001c0001t0004g0150a0001c0001t0005g0149a0001c0001t0008g0147others(3): Show | 6 | 158 | 0.0380 | 8 | c.240 others(27): Show |
GABRB1 | ENSG00000163288.14 | transcript | ENST00000295454.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| GABRB1_chr4_47026567_47431447 | 47155916 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02280.hp2 HG03704.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0007 | a0001c0001t0001g0067a0001c0001t0003g0085a0001c0002t0007g0099 | 3 | 158 | 0.0190 | 8 | c.241 others(25): Show |
GABRB1 | ENSG00000163288.14 | transcript | ENST00000295454.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| GABRB1_chr4_47026567_47431447 | 47183345 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02451.hp1 HG03225.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0002t0003others(1): Show | a0001c0001t0001g0014a0001c0001t0001g0063a0001c0001t0004g0152others(3): Show | 6 | 158 | 0.0380 | 8 | c.461 others(27): Show |
GABRB1 | ENSG00000163288.14 | transcript | ENST00000295454.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| GABRB1_chr4_47026567_47431447 | 47246277 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG03041.hp2 HG03139.hp1 NA18951.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0003 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0014others(2): Show | 5 | 158 | 0.0317 | 8 | c.462 others(27): Show |
GABRB1 | ENSG00000163288.14 | transcript | ENST00000295454.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| GABRB1_chr4_47026567_47431447 | 47263196 | T | TAATAAAT others(1): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02451.hp2 HG02896.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0004a0001c0002t0003a0001c0003t0005others(2): Show | a0001c0001t0004g0025a0001c0002t0003g0071a0001c0003t0005g0024others(3): Show | 6 | 158 | 0.0380 | 8 | c.462 others(27): Show |
GABRB1 | ENSG00000163288.14 | transcript | ENST00000295454.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| GABRB1_chr4_47026567_47431447 | 47269935 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00639.hp2 HG00642.hp1 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0008a0001c0001t0001g0029a0001c0001t0001g0047others(27): Show | 30 | 158 | 0.1899 | 8 | c.462 others(27): Show |
GABRB1 | ENSG00000163288.14 | transcript | ENST00000295454.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| GABRB1_chr4_47026567_47431447 | 47279083 | A | AATGGATG others(1): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02109.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0045a0001c0002t0003g0022 | 2 | 158 | 0.0127 | 8 | c.462 others(27): Show |
GABRB1 | ENSG00000163288.14 | transcript | ENST00000295454.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| GABRB1_chr4_47026567_47431447 | 47312070 | T | TGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02897.hp1 HG02976.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0002others(1): Show | a0001c0001t0002g0143a0001c0001t0002g0145a0001c0001t0003g0011others(5): Show | 8 | 158 | 0.0506 | 8 | c.462 others(25): Show |
GABRB1 | ENSG00000163288.14 | transcript | ENST00000295454.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| GABRB1_chr4_47026567_47431447 | 47339541 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01361.hp2 HG02027.hp2 HG02040.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0048a0001c0001t0001g0084a0001c0001t0001g0095others(17): Show | 20 | 158 | 0.1266 | 8 | c.544 others(27): Show |
GABRB1 | ENSG00000163288.14 | transcript | ENST00000295454.8 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| GABRB1_chr4_47026567_47431447 | 47339823 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01256.hp1 HG01261.hp2 others(5): Show |
a0001 | a0001c0004a0001c0006a0001c0008 | a0001c0004t0001a0001c0004t0004a0001c0004t0005others(2): Show | a0001c0004t0001g0115a0001c0004t0001g0153a0001c0004t0004g0051others(5): Show | 8 | 158 | 0.0506 | 8 | c.544 others(27): Show |
GABRB1 | ENSG00000163288.14 | transcript | ENST00000295454.8 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| GABRB1_chr4_47026567_47431447 | 47350214 | T | TAGAGAGA others(1): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03492.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0036a0001c0002t0001g0089 | 2 | 158 | 0.0127 | 8 | c.544 others(27): Show |
GABRB1 | ENSG00000163288.14 | transcript | ENST00000295454.8 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| GABRB1_chr4_47026567_47431447 | 47350216 | T | TAGAGAGA others(1): Show |
intron_variant | MODIFIER | NA18947.hp1 NA18974.hp2 NA18986.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0004 | a0001c0001t0001g0080a0001c0001t0002g0073a0001c0002t0004g0105 | 3 | 158 | 0.0190 | 8 | c.544 others(27): Show |
GABRB1 | ENSG00000163288.14 | transcript | ENST00000295454.8 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |