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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FSTL4_chr5_133191455_133617541 | 133517447 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0125 | 1 | 176 | 0.0057 | 25 | c.160 others(44): Show |
FSTL4 | ENSG00000053108.18 | transcript | ENST00000265342.12 | protein_coding | 3/15 | chr5 | TogoVar | ||||||
FSTL4_chr5_133191455_133617541 | 133517447 | A | AAAAAAAT others(18): Show |
intron_variant | MODIFIER | HG03209.hp1 HG03540.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0009a0001c0003t0007 | a0001c0001t0009g0132a0001c0003t0007g0154 | 2 | 176 | 0.0114 | 25 | c.160 others(44): Show |
FSTL4 | ENSG00000053108.18 | transcript | ENST00000265342.12 | protein_coding | 3/15 | chr5 | TogoVar | ||||||
FSTL4_chr5_133191455_133617541 | 133517447 | A | AAAAATAT others(18): Show |
intron_variant | MODIFIER | HG02040.hp2 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0124a0001c0001t0006g0153 | 2 | 176 | 0.0114 | 25 | c.160 others(44): Show |
FSTL4 | ENSG00000053108.18 | transcript | ENST00000265342.12 | protein_coding | 3/15 | chr5 | TogoVar | ||||||
FSTL5_chr4_161378897_162169000 | 161437564 | T | TCAAAGAA others(18): Show |
intron_variant | MODIFIER | HG02258.hp1 NA19240.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0014a0001c0003t0019 | a0001c0001t0014g0101a0001c0003t0019g0105 | 2 | 142 | 0.0141 | 25 | c.184 others(46): Show |
FSTL5 | ENSG00000168843.14 | transcript | ENST00000306100.10 | protein_coding | 15/15 | chr4 | TogoVar | ||||||
FSTL5_chr4_161378897_162169000 | 161437565 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG00438.hp1 NA18968.hp2 NA19079.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0090a0001c0002t0001g0022a0001c0002t0001g0023 | 3 | 142 | 0.0211 | 25 | c.184 others(46): Show |
FSTL5 | ENSG00000168843.14 | transcript | ENST00000306100.10 | protein_coding | 15/15 | chr4 | TogoVar | ||||||
FSTL5_chr4_161378897_162169000 | 162066299 | T | TTTCTTCT others(18): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0002 | a0001c0002t0017 | a0001c0002t0017g0080 | 1 | 142 | 0.0070 | 25 | c.127 others(44): Show |
FSTL5 | ENSG00000168843.14 | transcript | ENST00000306100.10 | protein_coding | 2/15 | chr4 | TogoVar | ||||||
FSTL5_chr4_161378897_162169000 | 162145099 | T | TAATGAAT others(18): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0085 | 1 | 142 | 0.0070 | 25 | c.-17 others(44): Show |
FSTL5 | ENSG00000168843.14 | transcript | ENST00000306100.10 | protein_coding | 1/15 | chr4 | TogoVar | ||||||
FST_chr5_53475629_53492134 | 53476060 | T | TATATATA others(18): Show |
upstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 462 | 0.0022 | 25 | c.-47 others(36): Show |
FST | ENSG00000134363.12 | transcript | ENST00000256759.8 | protein_coding | 4568 | chr5 | TogoVar | ||||||
FTCD_chr21_46131779_46160579 | 46135315 | A | AAATGTCC others(18): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 HG01081.hp1 HG01081.hp2 others(22): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(9): Show | a0001c0001t0001g0125a0001c0001t0001g0186a0001c0001t0002g0140others(22): Show | 25 | 230 | 0.1087 | 25 | c.*16 others(36): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 1463 | chr21 | TogoVar | ||||||
FTCD_chr21_46131779_46160579 | 46135325 | T | TCATGGTC others(18): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(33): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0002a0001c0001t0008a0001c0002t0002others(10): Show | a0001c0001t0002g0048a0001c0001t0008g0211a0001c0002t0002g0002others(31): Show | 36 | 230 | 0.1565 | 25 | c.*16 others(36): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 1453 | chr21 | TogoVar | ||||||
FTCD_chr21_46131779_46160579 | 46135350 | T | TCATGGTC others(18): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 HG03516.hp1 HG04115.hp2 others(1): Show |
a0001a0015 | a0001c0002a0001c0004a0015c0023 | a0001c0002t0002a0001c0004t0002a0015c0023t0002 | a0001c0002t0002g0113a0001c0002t0002g0147a0001c0004t0002g0178others(1): Show | 4 | 230 | 0.0174 | 25 | c.*16 others(36): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 1428 | chr21 | TogoVar | ||||||
FTL_chr19_48960309_48971879 | 48962914 | T | TTGGGTCT others(18): Show |
upstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 406 | 0.0025 | 25 | c.-25 others(36): Show |
FTL | ENSG00000087086.15 | transcript | ENST00000331825.11 | protein_coding | 2394 | chr19 | TogoVar | ||||||
FTO_chr16_53699156_54126941 | 53950155 | T | TAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG03927.hp2 NA18950.hp1 NA18995.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0019a0001c0001t0064others(1): Show | a0001c0001t0001g0154a0001c0001t0019g0038a0001c0001t0064g0035others(1): Show | 4 | 194 | 0.0206 | 25 | c.136 others(46): Show |
FTO | ENSG00000140718.22 | transcript | ENST00000471389.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
FTO_chr16_53699156_54126941 | 53990655 | T | TTTTTATT others(18): Show |
intron_variant | MODIFIER | HG02027.hp1 HG02071.hp1 HG02109.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0001t0012others(8): Show | a0001c0001t0001g0174a0001c0001t0007g0176a0001c0001t0012g0007others(9): Show | 12 | 194 | 0.0619 | 25 | c.136 others(46): Show |
FTO | ENSG00000140718.22 | transcript | ENST00000471389.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
FUBP1_chr1_77939055_77984072 | 77982560 | T | TGCCTGTA others(18): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(227): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007others(160): Show | 230 | 278 | 0.8273 | 25 | c.-35 others(36): Show |
FUBP1 | ENSG00000162613.18 | transcript | ENST00000370768.7 | protein_coding | 3489 | chr1 | TogoVar | ||||||
FUT10_chr8_33365824_33478146 | 33379846 | A | AAAATATA others(18): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0003 | a0003c0008 | a0003c0008t0010 | a0003c0008t0010g0103 | 1 | 268 | 0.0037 | 25 | c.121 others(44): Show |
FUT10 | ENSG00000172728.16 | transcript | ENST00000327671.10 | protein_coding | 4/4 | chr8 | TogoVar | ||||||
FUT2_chr19_48690971_48710951 | 48707901 | A | AAAGAAAG others(18): Show |
downstream_gene_variant | MODIFIER | NA19240.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0017 | 1 | 394 | 0.0025 | 25 | c.*39 others(36): Show |
FUT2 | ENSG00000176920.14 | transcript | ENST00000425340.3 | protein_coding | 1951 | chr19 | TogoVar | ||||||
FUT6_chr19_5825408_5844702 | 5836206 | A | ATTTTCTT others(18): Show |
intron_variant | MODIFIER | HG01257.hp1 HG02300.hp1 HG04115.hp2 |
a0004 | a0004c0004 | a0004c0004t0001a0004c0004t0003 | a0004c0004t0001g0040a0004c0004t0003g0075 | 3 | 436 | 0.0069 | 25 | c.-14 others(44): Show |
FUT6 | ENSG00000156413.15 | transcript | ENST00000318336.10 | protein_coding | 1/2 | chr19 | TogoVar | ||||||
FUT8_chr14_65407730_65749121 | 65474441 | G | GAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02055.hp1 HG02615.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(3): Show | a0001c0001t0001g0118a0001c0001t0002g0034a0001c0001t0002g0056others(8): Show | 11 | 374 | 0.0294 | 25 | c.-22 others(46): Show |
FUT8 | ENSG00000033170.17 | transcript | ENST00000673929.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
FUT8_chr14_65407730_65749121 | 65575582 | T | TCCTTCCT others(18): Show |
intron_variant | MODIFIER | HG03209.hp1 NA18969.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0001 | a0001c0001t0002g0116a0002c0003t0001g0331 | 2 | 374 | 0.0054 | 25 | c.203 others(44): Show |
FUT8 | ENSG00000033170.17 | transcript | ENST00000673929.1 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
FXN_chr9_69030752_69084076 | 69037284 | A | AAAAGAAG others(18): Show |
intron_variant | MODIFIER | HG02818.hp2 HG02895.hp2 HG02922.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0343a0001c0001t0006g0344a0001c0001t0006g0345others(2): Show | 5 | 432 | 0.0116 | 25 | c.165 others(42): Show |
FXN | ENSG00000165060.15 | transcript | ENST00000484259.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
FXR1_chr3_180907670_180987753 | 180918375 | C | CAATAATA others(18): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0042 | 1 | 320 | 0.0031 | 25 | c.51+ others(40): Show |
FXR1 | ENSG00000114416.19 | transcript | ENST00000357559.9 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
FXYD5_chr19_35149735_35174881 | 35161221 | A | ACACACAC others(18): Show |
intron_variant | MODIFIER | HG02071.hp2 HG02647.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0221a0001c0001t0002g0202 | 2 | 462 | 0.0043 | 25 | c.292 others(40): Show |
FXYD5 | ENSG00000089327.15 | transcript | ENST00000392219.7 | protein_coding | 5/8 | chr19 | TogoVar | ||||||
FXYD5_chr19_35149735_35174881 | 35161248 | A | ACACACAC others(18): Show |
intron_variant | MODIFIER | HG01361.hp1 HG02293.hp2 HG02698.hp1 others(7): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0007a0002c0003t0001 | a0002c0002t0007g0157a0002c0003t0001g0013a0002c0003t0001g0052others(3): Show | 10 | 462 | 0.0217 | 25 | c.292 others(40): Show |
FXYD5 | ENSG00000089327.15 | transcript | ENST00000392219.7 | protein_coding | 5/8 | chr19 | TogoVar | ||||||
FXYD6_chr11_117831981_117881658 | 117878218 | C | CGTTCCTG others(18): Show |
upstream_gene_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0242 | 1 | 430 | 0.0023 | 25 | c.-16 others(36): Show |
FXYD6 | ENSG00000137726.17 | transcript | ENST00000526014.6 | protein_coding | 1561 | chr11 | TogoVar | ||||||
FXYD7_chr19_35138255_35159302 | 35153033 | C | CTTTGTTT others(18): Show |
intron_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 444 | 0.0023 | 25 | c.221 others(40): Show |
FXYD7 | ENSG00000221946.8 | transcript | ENST00000270310.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
FYN_chr6_111655332_111878452 | 111657969 | A | ATTTTTTT others(18): Show |
downstream_gene_variant | MODIFIER | HG02698.hp1 HG04228.hp2 NA18995.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0177a0001c0001t0001g0186a0001c0001t0001g0187others(1): Show | 4 | 234 | 0.0171 | 25 | c.*37 others(36): Show |
FYN | ENSG00000010810.18 | transcript | ENST00000354650.7 | protein_coding | 2362 | chr6 | TogoVar | ||||||
FYTTD1_chr3_197744883_197792596 | 197766430 | G | GTGTGTGT others(18): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 256 | 0.0039 | 25 | c.236 others(42): Show |
FYTTD1 | ENSG00000122068.13 | transcript | ENST00000241502.9 | protein_coding | 2/8 | chr3 | TogoVar | ||||||
FYTTD1_chr3_197744883_197792596 | 197766460 | T | TGTGTGTG others(18): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 256 | 0.0039 | 25 | c.236 others(42): Show |
FYTTD1 | ENSG00000122068.13 | transcript | ENST00000241502.9 | protein_coding | 2/8 | chr3 | TogoVar | ||||||
FZD6_chr8_103293898_103337866 | 103329013 | T | TATATATA others(18): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 366 | 0.0027 | 25 | c.154 others(42): Show |
FZD6 | ENSG00000164930.12 | transcript | ENST00000358755.5 | protein_coding | 5/6 | chr8 | TogoVar | ||||||
FZD7_chr2_202028855_202043441 | 202040052 | C | CTTTTTTT others(18): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG01081.hp1 HG01167.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0000 | 7 | 420 | 0.0167 | 25 | c.*36 others(36): Show |
FZD7 | ENSG00000155760.3 | transcript | ENST00000286201.3 | protein_coding | 1612 | chr2 | TogoVar | ||||||
G3BP2_chr4_75637786_75678411 | 75674718 | A | ATATATAT others(18): Show |
upstream_gene_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 330 | 0.0030 | 25 | c.-15 others(36): Show |
G3BP2 | ENSG00000138757.15 | transcript | ENST00000359707.9 | protein_coding | 1308 | chr4 | TogoVar | ||||||
G3BP2_chr4_75637786_75678411 | 75674718 | A | ATATATAT others(18): Show |
upstream_gene_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0218 | 1 | 330 | 0.0030 | 25 | c.-15 others(36): Show |
G3BP2 | ENSG00000138757.15 | transcript | ENST00000359707.9 | protein_coding | 1308 | chr4 | TogoVar | ||||||
GAB2_chr11_78210293_78422820 | 78227631 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02647.hp1 NA19030.hp1 |
a0002a0007 | a0002c0006a0007c0018 | a0002c0006t0007a0007c0018t0007 | a0002c0006t0007g0122a0007c0018t0007g0124 | 2 | 288 | 0.0069 | 25 | c.621 others(40): Show |
GAB2 | ENSG00000033327.13 | transcript | ENST00000361507.5 | protein_coding | 3/9 | chr11 | TogoVar | ||||||
GAB2_chr11_78210293_78422820 | 78267857 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02738.hp2 NA18974.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0011a0001c0002t0031 | a0001c0002t0002g0047a0001c0002t0011g0007a0001c0002t0011g0077others(1): Show | 4 | 288 | 0.0139 | 25 | c.376 others(44): Show |
GAB2 | ENSG00000033327.13 | transcript | ENST00000361507.5 | protein_coding | 2/9 | chr11 | TogoVar | ||||||
GAB2_chr11_78210293_78422820 | 78318369 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG00099.hp1 HG02040.hp1 HG02055.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0022others(6): Show | a0001c0001t0001g0142a0001c0001t0004g0189a0001c0001t0004g0193others(17): Show | 20 | 288 | 0.0694 | 25 | c.76- others(42): Show |
GAB2 | ENSG00000033327.13 | transcript | ENST00000361507.5 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
GAB2_chr11_78210293_78422820 | 78383581 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0115 | 1 | 288 | 0.0035 | 25 | c.75+ others(42): Show |
GAB2 | ENSG00000033327.13 | transcript | ENST00000361507.5 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
GAB2_chr11_78210293_78422820 | 78407675 | A | AAGAAAGA others(18): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0002 | a0002c0006 | a0002c0006t0007 | a0002c0006t0007g0271 | 1 | 288 | 0.0035 | 25 | c.75+ others(40): Show |
GAB2 | ENSG00000033327.13 | transcript | ENST00000361507.5 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
GAB3_chrX_154670249_154756077 | 154672319 | T | TCTTCTTC others(18): Show |
downstream_gene_variant | MODIFIER | HG02738.hp1 | a0005 | a0005c0006 | a0005c0006t0002 | a0005c0006t0002g0100 | 1 | 257 | 0.0039 | 25 | c.*58 others(36): Show |
GAB3 | ENSG00000160219.12 | transcript | ENST00000424127.3 | protein_coding | 2929 | chrX | TogoVar | ||||||
GABBR2_chr9_98283109_98713935 | 98447063 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0030 | 1 | 164 | 0.0061 | 25 | c.123 others(44): Show |
GABBR2 | ENSG00000136928.7 | transcript | ENST00000259455.4 | protein_coding | 7/18 | chr9 | TogoVar | ||||||
GABRB2_chr5_161283436_161551725 | 161416696 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01071.hp1 HG01081.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0010others(4): Show | a0001c0001t0001g0143a0001c0001t0001g0254a0001c0001t0005g0172others(5): Show | 8 | 266 | 0.0301 | 25 | c.459 others(42): Show |
GABRB2 | ENSG00000145864.14 | transcript | ENST00000393959.6 | protein_coding | 4/9 | chr5 | TogoVar | ||||||
GABRB3_chr15_26538552_26778066 | 26674431 | A | AGAAAGGA others(18): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0005 | a0001c0005t0016 | a0001c0005t0016g0193 | 1 | 204 | 0.0049 | 25 | c.241 others(44): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 3/8 | chr15 | TogoVar | ||||||
GABRD_chr1_2014345_2035758 | 2018334 | A | AATAACAT others(18): Show |
upstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 364 | 0.0028 | 25 | c.-10 others(36): Show |
GABRD | ENSG00000187730.9 | transcript | ENST00000378585.7 | protein_coding | 1010 | chr1 | TogoVar | ||||||
GABRD_chr1_2014345_2035758 | 2022741 | C | CCCTGTGC others(18): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 364 | 0.0028 | 25 | c.69- others(40): Show |
GABRD | ENSG00000187730.9 | transcript | ENST00000378585.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
GABRG3_chr15_26966181_27546984 | 27062434 | T | TAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG03471.hp2 HG03492.hp2 |
a0001 | a0001c0002a0001c0014 | a0001c0002t0001a0001c0014t0024 | a0001c0002t0001g0027a0001c0014t0024g0057 | 2 | 92 | 0.0217 | 25 | c.270 others(44): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GABRG3_chr15_26966181_27546984 | 27307825 | C | CATATATA others(18): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0009 | a0001c0009t0010 | a0001c0009t0010g0051 | 1 | 92 | 0.0109 | 25 | c.271 others(44): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GABRR1_chr6_89172504_89222358 | 89196875 | G | GAAAGAAA others(18): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025 | 1 | 25 | 0.0400 | 25 | c.572 others(42): Show |
GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 5/9 | chr6 | TogoVar | ||||||
GABRR2_chr6_89249464_89320299 | 89292742 | A | AATCGTAT others(18): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01123.hp2 HG01192.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0015a0001c0002t0003a0001c0002t0005others(1): Show | a0001c0001t0015g0104a0001c0002t0003g0293a0001c0002t0005g0212others(3): Show | 6 | 366 | 0.0164 | 25 | c.220 others(42): Show |
GABRR2 | ENSG00000111886.11 | transcript | ENST00000402938.4 | protein_coding | 2/8 | chr6 | TogoVar | ||||||
GAD1_chr2_170811887_170866151 | 170840658 | A | AAGGGAGG others(18): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(77): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0002a0001c0001t0008a0001c0002t0002others(2): Show | a0001c0001t0002g0005a0001c0001t0002g0024a0001c0001t0002g0039others(74): Show | 80 | 412 | 0.1942 | 25 | c.639 others(42): Show |
GAD1 | ENSG00000128683.14 | transcript | ENST00000358196.8 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GADL1_chr3_30721197_30899661 | 30805734 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02922.hp1 HG03669.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0242a0001c0001t0002g0192a0001c0001t0002g0195others(5): Show | 8 | 282 | 0.0284 | 25 | c.105 others(44): Show |
GADL1 | ENSG00000144644.15 | transcript | ENST00000282538.10 | protein_coding | 11/14 | chr3 | TogoVar |