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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GAB2_chr11_78210293_78422820 | 78300516 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02257.hp1 HG02486.hp2 others(9): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0046a0001c0003t0004a0001c0003t0008others(2): Show | a0001c0001t0046g0116 a0001c0003t0004g0132 a0001c0003t0004g0133 others(9): Show |
12 | 120 | 0.1000 | 9 | c.76- others(26): Show |
GAB2 | ENSG00000033327.13 | transcript | ENST00000361507.5 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
GAB2_chr11_78210293_78422820 | 78358439 | T | TATAATAA others(2): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01074.hp1 HG01978.hp1 others(19): Show |
a0001a0004 | a0001c0001a0004c0012 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0272 a0001c0001t0003g0144 a0001c0001t0003g0145 others(19): Show |
22 | 194 | 0.1134 | 9 | c.75+ others(26): Show |
GAB2 | ENSG00000033327.13 | transcript | ENST00000361507.5 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
GAB2_chr11_78210293_78422820 | 78412031 | A | AAACAACA others(2): Show |
intron_variant | MODIFIER | HG02055.hp1 HG03139.hp2 NA19240.hp2 |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0132 a0001c0003t0004g0133 a0001c0003t0004g0134 |
3 | 246 | 0.0122 | 9 | c.75+ others(24): Show |
GAB2 | ENSG00000033327.13 | transcript | ENST00000361507.5 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
GAB3_chrX_154670249_154756077 | 154672242 | T | TTTCTTCC others(2): Show |
downstream_gene_variant | MODIFIER | HG00621.hp1 HG01981.hp2 HG01993.hp2 others(12): Show |
a0001a0002a0005 | a0001c0001a0002c0003a0005c0008 | a0001c0001t0001a0001c0001t0002a0002c0003t0001others(1): Show | a0001c0001t0001g0025 a0001c0001t0001g0093 a0001c0001t0001g0096 others(12): Show |
15 | 76 | 0.1974 | 9 | c.*59 others(20): Show |
GAB3 | ENSG00000160219.12 | transcript | ENST00000424127.3 | protein_coding | 3006 | chrX | TogoVar | |||||||
GAB3_chrX_154670249_154756077 | 154672242 | T | TTTCTTCT others(2): Show |
downstream_gene_variant | MODIFIER | HG02280.hp1 HG02698.hp1 HG02717.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0008a0001c0002t0010 | a0001c0001t0002g0072 a0001c0001t0002g0079 a0001c0001t0008g0002 others(1): Show |
4 | 65 | 0.0615 | 9 | c.*59 others(20): Show |
GAB3 | ENSG00000160219.12 | transcript | ENST00000424127.3 | protein_coding | 3006 | chrX | TogoVar | |||||||
GAB3_chrX_154670249_154756077 | 154672331 | C | CCTTCTTC others(2): Show |
downstream_gene_variant | MODIFIER | HG02615.hp2 HG02886.hp2 NA18949.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0133 a0001c0001t0001g0137 a0001c0001t0003g0031 others(2): Show |
5 | 47 | 0.1064 | 9 | c.*58 others(20): Show |
GAB3 | ENSG00000160219.12 | transcript | ENST00000424127.3 | protein_coding | 2917 | chrX | TogoVar | |||||||
GABBR2_chr9_98283109_98713935 | 98364601 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01884.hp1 HG02280.hp2 others(15): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0003a0001c0001t0006a0001c0001t0009others(14): Show | a0001c0001t0003g0121 a0001c0001t0006g0143 a0001c0001t0009g0044 others(15): Show |
18 | 97 | 0.1856 | 9 | c.177 others(28): Show |
GABBR2 | ENSG00000136928.7 | transcript | ENST00000259455.4 | protein_coding | 12/18 | chr9 | TogoVar | |||||||
GABBR2_chr9_98283109_98713935 | 98390375 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02723.hp2 HG02809.hp2 others(2): Show |
a0001a0002 | a0001c0005a0002c0012a0002c0016others(1): Show | a0001c0005t0012a0002c0012t0002a0002c0016t0019others(1): Show | a0001c0005t0012g0072 a0001c0005t0012g0122 a0002c0012t0002g0031 others(2): Show |
5 | 73 | 0.0685 | 9 | c.137 others(28): Show |
GABBR2 | ENSG00000136928.7 | transcript | ENST00000259455.4 | protein_coding | 9/18 | chr9 | TogoVar | |||||||
GABBR2_chr9_98283109_98713935 | 98436315 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01070.hp1 HG03710.hp2 |
a0001a0002 | a0001c0002a0002c0008 | a0001c0002t0001a0002c0008t0005 | a0001c0002t0001g0148 a0001c0002t0001g0163 a0002c0008t0005g0087 |
3 | 150 | 0.0200 | 9 | c.123 others(30): Show |
GABBR2 | ENSG00000136928.7 | transcript | ENST00000259455.4 | protein_coding | 7/18 | chr9 | TogoVar | |||||||
GABBR2_chr9_98283109_98713935 | 98684169 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01192.hp2 HG01884.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(4): Show | a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0002t0001g0156 others(6): Show |
9 | 27 | 0.3333 | 9 | c.321 others(28): Show |
GABBR2 | ENSG00000136928.7 | transcript | ENST00000259455.4 | protein_coding | 1/18 | chr9 | TogoVar | |||||||
GABBR2_chr9_98283109_98713935 | 98684169 | T | TTAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00621.hp1 HG00621.hp2 others(42): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(27): Show | a0001c0001t0001g0095 a0001c0001t0001g0108 a0001c0001t0001g0119 others(42): Show |
45 | 63 | 0.7143 | 9 | c.321 others(28): Show |
GABBR2 | ENSG00000136928.7 | transcript | ENST00000259455.4 | protein_coding | 1/18 | chr9 | TogoVar | |||||||
GABPB1_chr15_50270389_50360198 | 50300429 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01109.hp2 HG01192.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 a0001c0001t0003g0089 a0001c0001t0003g0097 others(8): Show |
11 | 329 | 0.0334 | 9 | c.697 others(24): Show |
GABPB1 | ENSG00000104064.18 | transcript | ENST00000380877.8 | protein_coding | 6/8 | chr15 | TogoVar | |||||||
GABPB1_chr15_50270389_50360198 | 50337129 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG02074.hp1 HG02132.hp2 HG02155.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0163 others(4): Show |
7 | 322 | 0.0217 | 9 | c.-1+ others(26): Show |
GABPB1 | ENSG00000104064.18 | transcript | ENST00000380877.8 | protein_coding | 1/8 | chr15 | TogoVar | |||||||
GABPB1_chr15_50270389_50360198 | 50348043 | G | GAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02717.hp2 HG02886.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0007 | a0001c0001t0003g0119 a0001c0001t0005g0318 a0001c0001t0007g0010 others(3): Show |
6 | 153 | 0.0392 | 9 | c.-1+ others(24): Show |
GABPB1 | ENSG00000104064.18 | transcript | ENST00000380877.8 | protein_coding | 1/8 | chr15 | TogoVar | |||||||
GABRA1_chr5_161843120_161904971 | 161893006 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG02647.hp1 HG02647.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0024a0001c0003t0001 | a0001c0001t0001g0057 a0001c0001t0001g0141 a0001c0001t0024g0076 others(1): Show |
4 | 302 | 0.0132 | 9 | c.856 others(26): Show |
GABRA1 | ENSG00000022355.18 | transcript | ENST00000393943.10 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GABRA1_chr5_161843120_161904971 | 161893048 | T | TAATAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00597.hp1 HG01192.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0009others(1): Show | a0001c0001t0001g0058 a0001c0001t0001g0068 a0001c0001t0001g0134 others(11): Show |
14 | 277 | 0.0505 | 9 | c.856 others(26): Show |
GABRA1 | ENSG00000022355.18 | transcript | ENST00000393943.10 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GABRA1_chr5_161843120_161904971 | 161893048 | T | TAATAATA others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00673.hp1 HG01167.hp1 others(25): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0001t0011others(1): Show | a0001c0001t0001g0015 a0001c0001t0001g0140 a0001c0001t0001g0146 others(23): Show |
28 | 291 | 0.0962 | 9 | c.856 others(26): Show |
GABRA1 | ENSG00000022355.18 | transcript | ENST00000393943.10 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GABRA2_chr4_46238548_46395128 | 46262936 | A | AAAGAGAG others(2): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02896.hp1 HG03540.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0039 | a0001c0001t0012g0049 a0001c0001t0012g0050 a0001c0001t0012g0071 others(3): Show |
6 | 256 | 0.0234 | 9 | c.857 others(24): Show |
GABRA2 | ENSG00000151834.16 | transcript | ENST00000381620.9 | protein_coding | 8/9 | chr4 | TogoVar | |||||||
GABRA2_chr4_46238548_46395128 | 46298946 | T | TATGTCTT others(2): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02280.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0030a0001c0001t0056 | a0001c0001t0030g0055 a0001c0001t0030g0057 a0001c0001t0056g0056 |
3 | 256 | 0.0117 | 9 | c.856 others(26): Show |
GABRA2 | ENSG00000151834.16 | transcript | ENST00000381620.9 | protein_coding | 8/9 | chr4 | TogoVar | |||||||
GABRA2_chr4_46238548_46395128 | 46389802 | G | GAGAGAGA others(2): Show |
5_prime_UTR_variant | MODIFIER | HG01978.hp2 HG02451.hp2 HG03704.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0016a0001c0001t0055a0001c0002t0001others(2): Show | a0001c0001t0016g0194 a0001c0001t0055g0048 a0001c0002t0001g0250 others(2): Show |
5 | 28 | 0.1786 | 9 | c.-79 others(16): Show |
GABRA2 | ENSG00000151834.16 | transcript | ENST00000381620.9 | protein_coding | 1/10 | 1097 | chr4 | TogoVar | ||||||
GABRA5_chr15_26862062_26954208 | 26890426 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01496.hp2 HG01884.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(3): Show | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 others(20): Show |
24 | 239 | 0.1004 | 9 | c.497 others(26): Show |
GABRA5 | ENSG00000186297.12 | transcript | ENST00000335625.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GABRA5_chr15_26862062_26954208 | 26930016 | T | TTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02280.hp1 HG02630.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0008others(2): Show | a0001c0001t0001g0060 a0001c0003t0001g0107 a0001c0003t0001g0239 others(3): Show |
6 | 276 | 0.0217 | 9 | c.581 others(26): Show |
GABRA5 | ENSG00000186297.12 | transcript | ENST00000335625.10 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GABRB1_chr4_47026567_47431447 | 47288243 | C | CTATTATT others(2): Show |
intron_variant | MODIFIER | HG01099.hp1 HG03490.hp2 HG03540.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0011 | a0001c0001t0001a0001c0003t0004a0001c0003t0011others(1): Show | a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0003t0004g0117 others(2): Show |
5 | 120 | 0.0417 | 9 | c.462 others(28): Show |
GABRB1 | ENSG00000163288.14 | transcript | ENST00000295454.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GABRB1_chr4_47026567_47431447 | 47311237 | T | TACAACAA others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(99): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0026 others(99): Show |
102 | 103 | 0.9903 | 9 | 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 | 161289232 | C | CTTTTTTT others(2): Show |
3_prime_UTR_variant | MODIFIER | HG00735.hp1 HG01891.hp2 HG02071.hp2 others(6): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0017a0001c0001t0024a0001c0001t0033others(3): Show | a0001c0001t0017g0050 a0001c0001t0017g0065 a0001c0001t0017g0082 others(6): Show |
9 | 89 | 0.1011 | 9 | c.*48 others(20): Show |
GABRB2 | ENSG00000145864.14 | transcript | ENST00000393959.6 | protein_coding | 10/10 | 4848 | chr5 | TogoVar | ||||||
GABRB3_chr15_26538552_26778066 | 26554190 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00621.hp2 HG00673.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0002a0001c0001t0004a0001c0001t0016others(2): Show | a0001c0001t0002g0007 a0001c0001t0002g0060 a0001c0001t0002g0077 others(10): Show |
13 | 81 | 0.1605 | 9 | c.108 others(28): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 8/8 | chr15 | TogoVar | |||||||
GABRB3_chr15_26538552_26778066 | 26565168 | T | TTGATGAT others(2): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01884.hp1 HG02055.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0008others(3): Show | a0001c0001t0003g0002 a0001c0001t0003g0018 a0001c0001t0003g0050 others(15): Show |
18 | 127 | 0.1417 | 9 | c.835 others(26): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 7/8 | chr15 | TogoVar | |||||||
GABRB3_chr15_26538552_26778066 | 26635010 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00438.hp2 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0122 a0001c0001t0001g0159 a0001c0001t0001g0169 others(28): Show |
31 | 63 | 0.4921 | 9 | c.241 others(28): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 3/8 | chr15 | TogoVar | |||||||
GABRB3_chr15_26538552_26778066 | 26674407 | A | AAAAGAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG02109.hp2 HG02280.hp1 others(5): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0098 a0001c0001t0002g0140 a0001c0001t0004g0173 others(5): Show |
8 | 191 | 0.0419 | 9 | c.241 others(28): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 3/8 | chr15 | TogoVar | |||||||
GABRG2_chr5_162062773_162160526 | 162105432 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00423.hp1 others(63): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0068 a0001c0001t0001g0153 a0001c0001t0001g0212 others(56): Show |
66 | 145 | 0.4552 | 9 | c.769 others(26): Show |
GABRG2 | ENSG00000113327.17 | transcript | ENST00000639213.2 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GABRG3_chr15_26966181_27546984 | 27216757 | T | TATTTATT others(2): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01109.hp2 HG03098.hp2 others(6): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0011others(6): Show | a0001c0001t0001g0038 a0001c0003t0001g0065 a0001c0004t0011g0078 others(6): Show |
9 | 92 | 0.0978 | 9 | c.271 others(30): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GABRG3_chr15_26966181_27546984 | 27308069 | T | TAATATAA others(2): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01891.hp1 HG02717.hp2 |
a0001 | a0001c0001a0001c0012a0001c0016 | a0001c0001t0028a0001c0012t0003a0001c0016t0001 | a0001c0001t0028g0054 a0001c0012t0003g0068 a0001c0016t0001g0074 |
3 | 92 | 0.0326 | 9 | 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 | 27317894 | C | CCACTGTT others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00738.hp1 others(17): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0021others(11): Show | a0001c0001t0001g0021 a0001c0001t0001g0044 a0001c0001t0001g0084 others(17): Show |
20 | 92 | 0.2174 | 9 | c.271 others(26): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GABRG3_chr15_26966181_27546984 | 27369806 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01891.hp1 HG03098.hp2 HG06807.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0028a0001c0003t0022a0001c0005t0005others(1): Show | a0001c0001t0028g0054 a0001c0003t0022g0058 a0001c0005t0005g0037 others(1): Show |
4 | 44 | 0.0909 | 9 | c.574 others(28): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GABRG3_chr15_26966181_27546984 | 27387906 | G | GGGGAAGA others(2): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02109.hp1 NA19240.hp2 |
a0001 | a0001c0004a0001c0005 | a0001c0004t0002a0001c0005t0002a0001c0005t0005 | a0001c0004t0002g0061 a0001c0005t0002g0067 a0001c0005t0005g0045 |
3 | 92 | 0.0326 | 9 | c.574 others(28): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GABRR3_chr3_97980102_98040315 | 98026612 | T | TCATCATT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00597.hp1 others(101): Show |
a0001a0004a0005others(1): Show | a0001c0001a0004c0004a0005c0005others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0006 others(91): Show |
104 | 380 | 0.2737 | 9 | c.126 others(24): Show |
GABRR3 | ENSG00000183185.10 | transcript | ENST00000472788.6 | protein_coding | 2/9 | chr3 | TogoVar | |||||||
GAD1_chr2_170811887_170866151 | 170828105 | G | GTCCTCAC others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(185): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0047 others(164): Show |
188 | 356 | 0.5281 | 9 | c.146 others(26): Show |
GAD1 | ENSG00000128683.14 | transcript | ENST00000358196.8 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GAD2_chr10_26211774_26309558 | 26264474 | G | GATTTTTT others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG00639.hp2 others(14): Show |
a0001a0004 | a0001c0002a0004c0006 | a0001c0002t0004a0004c0006t0029 | a0001c0002t0004g0009 a0001c0002t0004g0010 a0001c0002t0004g0019 others(12): Show |
17 | 292 | 0.0582 | 9 | c.921 others(26): Show |
GAD2 | ENSG00000136750.13 | transcript | ENST00000376261.8 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GAGE12H_chrX_49574949_49592301 | 49586024 | A | ATTTATTT others(2): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02257.hp1 HG02559.hp2 others(1): Show |
a0002a0004 | a0002c0003a0004c0006 | a0002c0003t0001a0004c0006t0001 | a0002c0003t0001g0059 a0002c0003t0001g0064 a0002c0003t0001g0067 others(1): Show |
4 | 76 | 0.0526 | 9 | c.332 others(26): Show |
GAGE12H | ENSG00000224902.6 | transcript | ENST00000381722.2 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GAGE1_chrX_49594020_49613538 | 49605908 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG01891.hp2 HG01952.hp1 HG02129.hp1 others(13): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0001a0002c0002t0003a0002c0002t0012others(1): Show | a0001c0001t0001g0009 a0001c0001t0001g0072 a0001c0001t0001g0078 others(8): Show |
16 | 107 | 0.1495 | 9 | c.332 others(22): Show |
GAGE1 | ENSG00000205777.19 | transcript | ENST00000381700.11 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GAGE2A_chrX_49584496_49601824 | 49586024 | A | ATTTATTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 HG02004.hp1 HG02486.hp1 others(5): Show |
a0001a0003a0005 | a0001c0002a0001c0004a0003c0003others(1): Show | a0001c0002t0001a0001c0004t0001a0003c0003t0001others(1): Show | a0001c0002t0001g0006 a0001c0002t0001g0056 a0001c0002t0001g0061 others(4): Show |
8 | 76 | 0.1053 | 9 | c.-35 others(20): Show |
GAGE2A | ENSG00000189064.9 | transcript | ENST00000362097.2 | protein_coding | 3471 | chrX | TogoVar | |||||||
GAL3ST2_chr2_241771822_241809287 | 241796495 | T | TGCTCAGT others(2): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00621.hp1 HG00639.hp1 others(48): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0009a0001c0010others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0009t0001others(5): Show | a0001c0001t0001g0020 a0001c0001t0001g0057 a0001c0001t0001g0058 others(36): Show |
51 | 312 | 0.1635 | 9 | c.30- others(24): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALK2_chr15_49165247_49336882 | 49228688 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG00621.hp1 NA18975.hp2 NA18998.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0005g0027 |
3 | 297 | 0.0101 | 9 | c.267 others(26): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 3/9 | chr15 | TogoVar | |||||||
GALK2_chr15_49165247_49336882 | 49324400 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01175.hp1 HG01256.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0019a0001c0002t0003 | a0001c0001t0002g0107 a0001c0001t0019g0096 a0001c0002t0003g0134 others(4): Show |
7 | 41 | 0.1707 | 9 | c.117 others(28): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GALM_chr2_38661114_38739765 | 38703093 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01081.hp1 HG01258.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0070 a0001c0001t0002g0109 a0001c0001t0003g0079 others(3): Show |
6 | 291 | 0.0206 | 9 | c.634 others(28): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | chr2 | TogoVar | |||||||
GALNT10_chr5_154185733_154425984 | 154378317 | T | TATCATCA others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00735.hp2 HG01070.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0011 a0001c0001t0002g0068 a0001c0001t0002g0069 others(15): Show |
18 | 70 | 0.2571 | 9 | c.754 others(26): Show |
GALNT10 | ENSG00000164574.16 | transcript | ENST00000297107.11 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GALNT10_chr5_154185733_154425984 | 154393057 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00642.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0002g0124 a0001c0001t0003g0018 a0001c0001t0003g0054 others(18): Show |
21 | 136 | 0.1544 | 9 | c.105 others(28): Show |
GALNT10 | ENSG00000164574.16 | transcript | ENST00000297107.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GALNT13_chr2_153866922_154458979 | 154014635 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00738.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013a0001c0001t0019others(7): Show | a0001c0001t0001g0007 a0001c0001t0013g0162 a0001c0001t0019g0078 others(9): Show |
12 | 47 | 0.2553 | 9 | c.142 others(28): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT13_chr2_153866922_154458979 | 154061040 | C | CTTCTTAG others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(168): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(61): Show | a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0021 others(168): Show |
171 | 212 | 0.8066 | 9 | c.143 others(28): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT13_chr2_153866922_154458979 | 154394077 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02818.hp1 HG02896.hp2 HG02965.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0014a0001c0001t0016others(3): Show | a0001c0001t0009g0124 a0001c0001t0014g0146 a0001c0001t0016g0163 others(3): Show |
6 | 57 | 0.1053 | 9 | c.115 others(28): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |