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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FOXI1_chr5_170100897_170114734 | 170105348 | G | GGAGGGGG others(24): Show |
upstream_gene_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004 | 1 | 302 | 0.0033 | 31 | c.-61 others(40): Show |
FOXI1 | ENSG00000168269.10 | transcript | ENST00000306268.8 | protein_coding | 548 | chr5 | TogoVar | |||||||
FOXI1_chr5_170100897_170114734 | 170105348 | G | GGAGGGGG others(24): Show |
upstream_gene_variant | MODIFIER | NA18953.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004 | 1 | 302 | 0.0033 | 31 | c.-61 others(40): Show |
FOXI1 | ENSG00000168269.10 | transcript | ENST00000306268.8 | protein_coding | 548 | chr5 | TogoVar | |||||||
FOXI2_chr10_127732185_127746183 | 127733670 | G | GGAGTAAA others(24): Show |
upstream_gene_variant | MODIFIER | HG02040.hp1 | a0004 | a0004c0008 | a0004c0008t0105 | a0004c0008t0105g0001 | 1 | 432 | 0.0023 | 31 | c.-36 others(42): Show |
FOXI2 | ENSG00000186766.8 | transcript | ENST00000388920.5 | protein_coding | 3514 | chr10 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82575992 | A | ACCAGCGT others(24): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG02572.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0011 | a0002c0002t0003g0006 a0002c0002t0011g0035 a0002c0002t0011g0036 others(2): Show |
5 | 204 | 0.0245 | 31 | c.909 others(48): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82607555 | A | ATATATAT others(24): Show |
downstream_gene_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0243 | 1 | 127 | 0.0079 | 31 | c.*60 others(42): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 2954 | chr17 | TogoVar | |||||||
FOXP4_chr6_41541381_41607384 | 41582696 | T | TATGTTGT others(24): Show |
intron_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0127 | 1 | 354 | 0.0028 | 31 | c.301 others(48): Show |
FOXP4 | ENSG00000137166.18 | transcript | ENST00000307972.10 | protein_coding | 3/16 | chr6 | TogoVar | |||||||
FPGS_chr9_127797882_127819081 | 127813461 | C | CCAAAGGG others(24): Show |
frameshift_variant | HIGH | HG00738.hp1 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0067 | 1 | 404 | 0.0025 | 31 | c.162 others(40): Show |
p.Ser others(5): Show |
FPGS | ENSG00000136877.15 | transcript | ENST00000373247.7 | protein_coding | 15/15 | 1698/2284 | 1655/1764 | 552/587 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
FREM1_chr9_14732152_14915428 | 14739463 | T | TATATATA others(24): Show |
intron_variant | MODIFIER | HG03098.hp1 NA21309.hp1 |
a0007 | a0007c0006 | a0007c0006t0002 | a0007c0006t0002g0037 a0007c0006t0002g0113 |
2 | 320 | 0.0063 | 31 | c.634 others(48): Show |
FREM1 | ENSG00000164946.20 | transcript | ENST00000380880.4 | protein_coding | 36/36 | chr9 | TogoVar | |||||||
FRK_chr6_115926149_116065891 | 115958644 | A | AAAGAAAG others(24): Show |
intron_variant | MODIFIER | HG01169.hp1 HG02622.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0051a0002c0002t0021 | a0001c0001t0051g0102 a0002c0002t0021g0036 |
2 | 245 | 0.0082 | 31 | c.800 others(48): Show |
FRK | ENSG00000111816.8 | transcript | ENST00000606080.2 | protein_coding | 4/7 | chr6 | TogoVar | |||||||
FRMD4A_chr10_13638706_14335924 | 13772200 | T | TAAATATT others(24): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0067 a0001c0001t0003g0089 |
2 | 134 | 0.0149 | 31 | c.385 others(48): Show |
FRMD4A | ENSG00000151474.23 | transcript | ENST00000357447.7 | protein_coding | 6/24 | chr10 | TogoVar | |||||||
FRMD4B_chr3_69163782_69391088 | 69215284 | C | CTTTTTTT others(24): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0009 | a0001c0009t0023 | a0001c0009t0023g0213 | 1 | 48 | 0.0208 | 31 | c.876 others(46): Show |
FRMD4B | ENSG00000114541.15 | transcript | ENST00000398540.8 | protein_coding | 11/22 | chr3 | TogoVar | |||||||
FRMD4B_chr3_69163782_69391088 | 69279679 | T | TCCTCCTC others(24): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02451.hp2 HG02572.hp2 others(5): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0002c0014others(2): Show | a0001c0001t0014a0002c0002t0038a0002c0014t0016others(3): Show | a0001c0001t0014g0043 a0002c0002t0038g0201 a0002c0014t0016g0198 others(5): Show |
8 | 221 | 0.0362 | 31 | c.501 others(48): Show |
FRMD4B | ENSG00000114541.15 | transcript | ENST00000398540.8 | protein_coding | 5/22 | chr3 | TogoVar | |||||||
FRMPD4_chrX_12133473_12729523 | 12193774 | G | GAAAGAAA others(24): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02109.hp2 HG03491.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0005 | a0001c0001t0002a0002c0003t0003a0002c0005t0001 | a0001c0001t0002g0096 a0001c0001t0002g0097 a0002c0003t0003g0041 others(1): Show |
4 | 109 | 0.0367 | 31 | c.41+ others(48): Show |
FRMPD4 | ENSG00000169933.17 | transcript | ENST00000675598.1 | protein_coding | 1/16 | chrX | TogoVar | |||||||
FRMPD4_chrX_12133473_12729523 | 12305725 | G | GTTTTTTT others(24): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0072 | 1 | 32 | 0.0313 | 31 | c.41+ others(50): Show |
FRMPD4 | ENSG00000169933.17 | transcript | ENST00000675598.1 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
FRMPD4_chrX_12133473_12729523 | 12331645 | T | TTATATAT others(24): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0171 | 1 | 174 | 0.0057 | 31 | c.42- others(50): Show |
FRMPD4 | ENSG00000169933.17 | transcript | ENST00000675598.1 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
FRRS1L_chr9_109125293_109172249 | 109131978 | A | ATTTTATT others(24): Show |
3_prime_UTR_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0298 | 1 | 273 | 0.0037 | 31 | c.*54 others(42): Show |
FRRS1L | ENSG00000260230.5 | transcript | ENST00000561981.5 | protein_coding | 5/5 | 5476 | chr9 | TogoVar | ||||||
FRY_chr13_32026774_32304125 | 32076774 | C | CTACAGTC others(24): Show |
intron_variant | MODIFIER | NA18945.hp2 NA19083.hp1 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0011a0003c0005t0001 | a0001c0001t0011g0061 a0003c0005t0001g0062 |
2 | 234 | 0.0085 | 31 | c.71- others(46): Show |
FRY | ENSG00000073910.23 | transcript | ENST00000542859.6 | protein_coding | 1/60 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
FSD1L_chr9_105443034_105557433 | 105533416 | C | CTTTTTTT others(24): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0115 | 1 | 7 | 0.1429 | 31 | c.102 others(50): Show |
FSD1L | ENSG00000106701.13 | transcript | ENST00000481272.6 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
FSD1_chr19_4299598_4328836 | 4321310 | T | TGGGGGAA others(24): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00642.hp2 HG01175.hp2 others(15): Show |
a0001a0003 | a0001c0002a0001c0011a0003c0012 | a0001c0002t0001a0001c0011t0001a0003c0012t0001 | a0001c0002t0001g0015 a0001c0002t0001g0048 a0001c0002t0001g0049 others(12): Show |
18 | 403 | 0.0447 | 31 | c.104 others(50): Show |
FSD1 | ENSG00000105255.11 | transcript | ENST00000221856.11 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
FSD1_chr19_4299598_4328836 | 4322683 | G | GGGGAATA others(24): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(401): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(254): Show |
404 | 407 | 0.9926 | 31 | c.104 others(48): Show |
FSD1 | ENSG00000105255.11 | transcript | ENST00000221856.11 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
FSD1_chr19_4299598_4328836 | 4322683 | G | GGGGAATA others(24): Show |
intron_variant | MODIFIER | NA18961.hp2 NA18970.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0170 a0001c0002t0001g0104 |
2 | 5 | 0.4000 | 31 | c.104 others(48): Show |
FSD1 | ENSG00000105255.11 | transcript | ENST00000221856.11 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
FSTL4_chr5_133191455_133617541 | 133375312 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0112 | 1 | 168 | 0.0060 | 31 | c.409 others(50): Show |
FSTL4 | ENSG00000053108.18 | transcript | ENST00000265342.12 | protein_coding | 4/15 | chr5 | TogoVar | |||||||
FSTL4_chr5_133191455_133617541 | 133517447 | A | AAAAAAAA others(24): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0042 | 1 | 32 | 0.0313 | 31 | c.160 others(50): Show |
FSTL4 | ENSG00000053108.18 | transcript | ENST00000265342.12 | protein_coding | 3/15 | chr5 | TogoVar | |||||||
FSTL4_chr5_133191455_133617541 | 133517447 | A | AAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG02717.hp2 HG04115.hp1 NA19063.hp2 |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0008a0002c0002t0002a0005c0005t0004 | a0001c0001t0008g0096 a0002c0002t0002g0048 a0005c0005t0004g0034 |
3 | 34 | 0.0882 | 31 | c.160 others(50): Show |
FSTL4 | ENSG00000053108.18 | transcript | ENST00000265342.12 | protein_coding | 3/15 | chr5 | TogoVar | |||||||
FSTL4_chr5_133191455_133617541 | 133517447 | A | AAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG01071.hp2 HG03139.hp1 HG03654.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0005 | a0001c0001t0003g0126 a0001c0001t0003g0151 a0002c0002t0005g0128 |
3 | 34 | 0.0882 | 31 | c.160 others(50): Show |
FSTL4 | ENSG00000053108.18 | transcript | ENST00000265342.12 | protein_coding | 3/15 | chr5 | TogoVar | |||||||
FSTL4_chr5_133191455_133617541 | 133517447 | A | AAAAAAAT others(24): Show |
intron_variant | MODIFIER | HG02602.hp1 NA18982.hp1 NA18999.hp2 |
a0001a0011 | a0001c0001a0011c0012 | a0001c0001t0001a0001c0001t0003a0011c0012t0002 | a0001c0001t0001g0080 a0001c0001t0003g0142 a0011c0012t0002g0149 |
3 | 34 | 0.0882 | 31 | c.160 others(50): Show |
FSTL4 | ENSG00000053108.18 | transcript | ENST00000265342.12 | protein_coding | 3/15 | chr5 | TogoVar | |||||||
FSTL5_chr4_161378897_162169000 | 161437565 | C | CAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0100 | 1 | 28 | 0.0357 | 31 | c.184 others(52): Show |
FSTL5 | ENSG00000168843.14 | transcript | ENST00000306100.10 | protein_coding | 15/15 | chr4 | TogoVar | |||||||
FSTL5_chr4_161378897_162169000 | 162066299 | T | TTTCTTCT others(24): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0121 | 1 | 133 | 0.0075 | 31 | c.127 others(50): Show |
FSTL5 | ENSG00000168843.14 | transcript | ENST00000306100.10 | protein_coding | 2/15 | chr4 | TogoVar | |||||||
FTO_chr16_53699156_54126941 | 53950155 | T | TAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0169 | 1 | 70 | 0.0143 | 31 | c.136 others(52): Show |
FTO | ENSG00000140718.22 | transcript | ENST00000471389.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
FTO_chr16_53699156_54126941 | 53950173 | A | AACAAAAA others(24): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0056 | a0001c0001t0056g0138 | 1 | 192 | 0.0052 | 31 | c.136 others(52): Show |
FTO | ENSG00000140718.22 | transcript | ENST00000471389.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
FUT10_chr8_33365824_33478146 | 33379923 | C | CACTATAT others(24): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 261 | 0.0038 | 31 | c.121 others(50): Show |
FUT10 | ENSG00000172728.16 | transcript | ENST00000327671.10 | protein_coding | 4/4 | chr8 | TogoVar | |||||||
FUT10_chr8_33365824_33478146 | 33380030 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0064 | 1 | 262 | 0.0038 | 31 | c.121 others(50): Show |
FUT10 | ENSG00000172728.16 | transcript | ENST00000327671.10 | protein_coding | 4/4 | chr8 | TogoVar | |||||||
FUT8_chr14_65407730_65749121 | 65474441 | G | GAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00609.hp2 HG02698.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0001c0001t0003a0002c0004t0018 | a0001c0001t0002g0033 a0001c0001t0002g0266 a0001c0001t0003g0238 others(1): Show |
4 | 82 | 0.0488 | 31 | c.-22 others(52): Show |
FUT8 | ENSG00000033170.17 | transcript | ENST00000673929.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
FUT9_chr6_96010974_96220612 | 96110815 | C | CTATTTTT others(24): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01175.hp1 HG02132.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(5): Show | a0001c0001t0001g0084 a0001c0001t0002g0116 a0001c0001t0002g0179 others(7): Show |
10 | 34 | 0.2941 | 31 | c.-97 others(48): Show |
FUT9 | ENSG00000172461.11 | transcript | ENST00000302103.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FXN_chr9_69030752_69084076 | 69037284 | A | AAAAGAAG others(24): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0327 | 1 | 13 | 0.0769 | 31 | c.165 others(48): Show |
FXN | ENSG00000165060.15 | transcript | ENST00000484259.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
FXYD5_chr19_35149735_35174881 | 35161221 | A | ACACACAC others(24): Show |
intron_variant | MODIFIER | NA18940.hp2 NA19000.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0003 | a0001c0001t0003g0130 a0002c0002t0003g0171 |
2 | 66 | 0.0303 | 31 | c.292 others(46): Show |
FXYD5 | ENSG00000089327.15 | transcript | ENST00000392219.7 | protein_coding | 5/8 | chr19 | TogoVar | |||||||
FXYD5_chr19_35149735_35174881 | 35161248 | A | ACACACAC others(24): Show |
intron_variant | MODIFIER | HG00408.hp1 HG02145.hp1 HG02148.hp2 others(4): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0004c0008 | a0001c0001t0001a0002c0003t0001a0004c0008t0001 | a0001c0001t0001g0146 a0002c0003t0001g0054 a0002c0003t0001g0166 others(3): Show |
7 | 410 | 0.0171 | 31 | c.292 others(46): Show |
FXYD5 | ENSG00000089327.15 | transcript | ENST00000392219.7 | protein_coding | 5/8 | chr19 | TogoVar | |||||||
FYTTD1_chr3_197744883_197792596 | 197792577 | T | TATATATA others(24): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 69 | 0.0145 | 31 | c.*10 others(44): Show |
FYTTD1 | ENSG00000122068.13 | transcript | ENST00000241502.9 | protein_coding | 4982 | chr3 | TogoVar | |||||||
FZD7_chr2_202028855_202043441 | 202040052 | C | CTTTTTTT others(24): Show |
downstream_gene_variant | MODIFIER | HG00741.hp2 HG01358.hp1 HG01943.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0000 | 3 | 29 | 0.1034 | 31 | c.*36 others(42): Show |
FZD7 | ENSG00000155760.3 | transcript | ENST00000286201.3 | protein_coding | 1612 | chr2 | TogoVar | |||||||
G3BP2_chr4_75637786_75678411 | 75643293 | A | ATATATAT others(24): Show |
3_prime_UTR_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0043 | 1 | 328 | 0.0030 | 31 | c.*21 others(42): Show |
G3BP2 | ENSG00000138757.15 | transcript | ENST00000359707.9 | protein_coding | 12/12 | 2136 | chr4 | TogoVar | ||||||
GAA_chr17_80096581_80124881 | 80120357 | C | CCCTCCCC others(24): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG00639.hp2 others(142): Show |
a0001a0002a0003others(8): Show | a0001c0004a0001c0010a0001c0036others(15): Show | a0001c0004t0003a0001c0010t0010a0001c0036t0010others(20): Show | a0001c0004t0003g0021 a0001c0010t0010g0121 a0001c0010t0010g0122 others(67): Show |
145 | 389 | 0.3728 | 31 | c.*10 others(42): Show |
GAA | ENSG00000171298.14 | transcript | ENST00000302262.8 | protein_coding | 477 | chr17 | TogoVar | |||||||
GAB2_chr11_78210293_78422820 | 78267857 | C | CAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03516.hp1 |
a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0102 a0001c0004t0006g0103 |
2 | 153 | 0.0131 | 31 | c.376 others(50): Show |
GAB2 | ENSG00000033327.13 | transcript | ENST00000361507.5 | protein_coding | 2/9 | chr11 | TogoVar | |||||||
GAB2_chr11_78210293_78422820 | 78418388 | T | TCAGTATT others(24): Show |
upstream_gene_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0068 | 1 | 286 | 0.0035 | 31 | c.-66 others(40): Show |
GAB2 | ENSG00000033327.13 | transcript | ENST00000361507.5 | protein_coding | 569 | chr11 | TogoVar | |||||||
GABBR2_chr9_98283109_98713935 | 98447063 | C | CTTTTTTT others(24): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0100 | 1 | 77 | 0.0130 | 31 | c.123 others(50): Show |
GABBR2 | ENSG00000136928.7 | transcript | ENST00000259455.4 | protein_coding | 7/18 | chr9 | TogoVar | |||||||
GABPB1_chr15_50270389_50360198 | 50337129 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 316 | 0.0032 | 31 | c.-1+ others(48): Show |
GABPB1 | ENSG00000104064.18 | transcript | ENST00000380877.8 | protein_coding | 1/8 | chr15 | TogoVar | |||||||
GABPB2_chr1_151065761_151130542 | 151104802 | T | TTTCTTTC others(24): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 79 | 0.0127 | 31 | c.736 others(48): Show |
GABPB2 | ENSG00000143458.12 | transcript | ENST00000368918.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
GABRA2_chr4_46238548_46395128 | 46389802 | G | GAGAGAGA others(24): Show |
5_prime_UTR_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0016 | 1 | 24 | 0.0417 | 31 | c.-79 others(38): Show |
GABRA2 | ENSG00000151834.16 | transcript | ENST00000381620.9 | protein_coding | 1/10 | 1097 | chr4 | TogoVar | ||||||
GABRA5_chr15_26862062_26954208 | 26896925 | T | TATGTAGA others(24): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0010 | 1 | 201 | 0.0050 | 31 | c.497 others(50): Show |
GABRA5 | ENSG00000186297.12 | transcript | ENST00000335625.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GABRA5_chr15_26862062_26954208 | 26896954 | C | CAGATGTA others(24): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01884.hp1 others(1): Show |
a0001 | a0001c0001a0001c0004a0001c0005 | a0001c0001t0001a0001c0004t0002a0001c0005t0001 | a0001c0001t0001g0333 a0001c0004t0002g0125 a0001c0004t0002g0127 others(1): Show |
4 | 238 | 0.0168 | 31 | c.497 others(50): Show |
GABRA5 | ENSG00000186297.12 | transcript | ENST00000335625.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GABRB2_chr5_161283436_161551725 | 161416696 | C | CAAAAAAA others(24): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0172 | 1 | 17 | 0.0588 | 31 | c.459 others(48): Show |
GABRB2 | ENSG00000145864.14 | transcript | ENST00000393959.6 | protein_coding | 4/9 | chr5 | TogoVar |