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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AARSD1_chr17_42945526_42969454 | 42967115 | TATATATA others(28): Show |
T | upstream_gene_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01433.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0003 a0001c0002t0001g0021 a0001c0002t0001g0022 others(5): Show |
9 | 303 | 0.0297 | -35 | c.-27 others(46): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2662 | chr17 | TogoVar | |||||||
ABCA2_chr9_137002234_137033237 | 137019132 | TCCCCACA others(28): Show |
T | intron_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0051 | 1 | 318 | 0.0031 | -35 | c.155 others(50): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 11/48 | chr9 | TogoVar | |||||||
ABCB1_chr7_87498017_87605884 | 87548147 | GAGGGAAG others(28): Show |
G | intron_variant | MODIFIER | NA18991.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0246 | 1 | 184 | 0.0054 | -35 | c.172 others(54): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 14/27 | chr7 | TogoVar | |||||||
ABCB5_chr7_20610667_20762008 | 20681026 | CTTTCTTT others(28): Show |
C | intron_variant | MODIFIER | NA19002.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0033 | 1 | 341 | 0.0029 | -35 | c.170 others(52): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCC11_chr16_48160773_48252539 | 48168222 | ACAAAAAT others(28): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG01123.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0083 a0002c0002t0001g0097 |
2 | 156 | 0.0128 | -35 | c.389 others(52): Show |
ABCC11 | ENSG00000121270.16 | transcript | ENST00000356608.7 | protein_coding | 28/29 | chr16 | TogoVar | |||||||
ABCC6_chr16_16144565_16228494 | 16218861 | TTTTAGTA others(28): Show |
T | intron_variant | MODIFIER | NA19007.hp2 | a0039 | a0039c0037 | a0039c0037t0001 | a0039c0037t0001g0355 | 1 | 356 | 0.0028 | -35 | c.474 others(50): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 4/30 | chr16 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37260261 | TATATATA others(28): Show |
T | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0125 | 1 | 298 | 0.0034 | -35 | c.133 others(52): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 11/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37390215 | TTATTATA others(28): Show |
T | intron_variant | MODIFIER | NA18950.hp2 NA18969.hp1 NA18990.hp1 others(2): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0002t0021a0001c0003t0002 | a0001c0002t0002g0011 a0001c0002t0002g0013 a0001c0002t0021g0036 others(2): Show |
5 | 297 | 0.0168 | -35 | c.38+ others(52): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | |||||||
ACAD10_chr12_111681053_111762099 | 111696454 | GAAAATTA others(28): Show |
G | intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0172 | 1 | 334 | 0.0030 | -35 | c.187 others(52): Show |
ACAD10 | ENSG00000111271.15 | transcript | ENST00000313698.9 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACAT2_chr6_159757045_159784112 | 159773328 | GACCTAGA others(28): Show |
G | intron_variant | MODIFIER | NA19001.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0065 | 1 | 402 | 0.0025 | -35 | c.491 others(52): Show |
ACAT2 | ENSG00000120437.9 | transcript | ENST00000367048.5 | protein_coding | 4/8 | chr6 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68944870 | GGGTAGCT others(28): Show |
G | intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0095 | 1 | 282 | 0.0035 | -35 | c.106 others(54): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68944903 | TCAGGTAG others(28): Show |
T | intron_variant | MODIFIER | HG03490.hp1 HG03492.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0221 a0001c0002t0003g0222 |
2 | 282 | 0.0071 | -35 | c.106 others(54): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38735692 | CGGGGCGG others(28): Show |
C | downstream_gene_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0151 | 1 | 310 | 0.0032 | -35 | c.*62 others(46): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4104 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38735712 | CGGGGCGG others(28): Show |
C | downstream_gene_variant | MODIFIER | HG01261.hp2 HG02622.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0020 | a0001c0001t0002g0102 a0001c0001t0020g0308 |
2 | 311 | 0.0064 | -35 | c.*62 others(46): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4124 | chr19 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157826697 | GAAGGAAA others(28): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG02145.hp2 HG02647.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0020 a0001c0001t0002g0129 a0001c0001t0002g0154 others(5): Show |
8 | 33 | 0.2424 | -35 | c.-18 others(54): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACYP2_chr2_53966113_54310300 | 54197935 | ATGTATTA others(28): Show |
A | intron_variant | MODIFIER | HG02109.hp2 | a0003 | a0003c0004 | a0003c0004t0007 | a0003c0004t0007g0005 | 1 | 235 | 0.0043 | -35 | c.404 others(54): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ADAM17_chr2_9483486_9560830 | 9556932 | AACTGTGG others(28): Show |
A | upstream_gene_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0186 | 1 | 232 | 0.0043 | -35 | c.-13 others(46): Show |
ADAM17 | ENSG00000151694.15 | transcript | ENST00000310823.8 | protein_coding | 1103 | chr2 | TogoVar | |||||||
ADAM28_chr8_24289069_24364014 | 24358505 | GCTCCACC others(28): Show |
G | 3_prime_UTR_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0010 | 1 | 346 | 0.0029 | -35 | c.*41 others(46): Show |
ADAM28 | ENSG00000042980.14 | transcript | ENST00000265769.9 | protein_coding | 23/23 | 4102 | chr8 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 99977365 | TATATATA others(28): Show |
T | intron_variant | MODIFIER | HG01261.hp2 | a0002 | a0002c0049 | a0002c0049t0006 | a0002c0049t0006g0107 | 1 | 226 | 0.0044 | -35 | c.295 others(54): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 20/21 | chr15 | TogoVar | |||||||
ADAMTS18_chr16_77277128_77440034 | 77334387 | ATATATAT others(28): Show |
A | intron_variant | MODIFIER | HG01123.hp2 HG01243.hp1 NA20905.hp2 |
a0001a0004a0028 | a0001c0001a0004c0003a0028c0054 | a0001c0001t0002a0004c0003t0001a0028c0054t0007 | a0001c0001t0002g0096 a0004c0003t0001g0229 a0028c0054t0007g0257 |
3 | 210 | 0.0143 | -35 | c.185 others(54): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 12/22 | chr16 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72530046 | ATTTATAT others(28): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp1 |
a0003a0005 | a0003c0005a0005c0013 | a0003c0005t0023a0005c0013t0001 | a0003c0005t0023g0035 a0005c0013t0001g0026 |
2 | 179 | 0.0112 | -35 | c.504 others(54): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
ADAP1_chr7_892900_959680 | 896118 | GGGACTCT others(28): Show |
G | downstream_gene_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 12 | 0.0833 | -35 | c.*27 others(46): Show |
ADAP1 | ENSG00000105963.15 | transcript | ENST00000265846.10 | protein_coding | 1781 | chr7 | TogoVar | |||||||
ADAP2_chr17_30916945_30964322 | 30953383 | TGGTTTAA others(28): Show |
T | intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0084 | 1 | 280 | 0.0036 | -35 | c.804 others(48): Show |
ADAP2 | ENSG00000184060.11 | transcript | ENST00000330889.8 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1327695 | CGTCACAG others(28): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02630.hp1 HG02965.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0007others(2): Show | a0001c0001t0025a0001c0001t0050a0001c0003t0009others(5): Show | a0001c0001t0025g0036 a0001c0001t0050g0077 a0001c0003t0009g0046 others(5): Show |
8 | 106 | 0.0755 | -35 | c.107 others(56): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 3/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1519795 | CGCCCTGC others(28): Show |
C | intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0055 | a0001c0001t0055g0089 | 1 | 106 | 0.0094 | -35 | c.101 others(56): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADCYAP1_chr18_899871_917172 | 915615 | GGATGATA others(28): Show |
G | downstream_gene_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0004 | a0002c0004t0049 | a0002c0004t0049g0232 | 1 | 486 | 0.0021 | -35 | c.*59 others(46): Show |
ADCYAP1 | ENSG00000141433.13 | transcript | ENST00000450565.8 | protein_coding | 3444 | chr18 | TogoVar | |||||||
ADGRB1_chr8_142444649_142550007 | 142489550 | TTCGAGAG others(28): Show |
T | intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0131 | 1 | 308 | 0.0032 | -35 | c.263 others(52): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 16/30 | chr8 | TogoVar | |||||||
ADGRB3_chr6_68630282_69394506 | 68772885 | AAAAAAAA others(28): Show |
A | intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0063 | 1 | 111 | 0.0090 | -35 | c.757 others(56): Show |
ADGRB3 | ENSG00000135298.15 | transcript | ENST00000370598.6 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ADGRB3_chr6_68630282_69394506 | 68875115 | TTTCTTTC others(28): Show |
T | intron_variant | MODIFIER | HG01074.hp2 HG02559.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0099 a0001c0002t0001g0027 |
2 | 118 | 0.0169 | -35 | c.758 others(54): Show |
ADGRB3 | ENSG00000135298.15 | transcript | ENST00000370598.6 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ADGRB3_chr6_68630282_69394506 | 69031037 | CTCTCTTC others(28): Show |
C | intron_variant | MODIFIER | HG01074.hp2 HG02040.hp1 NA18747.hp1 others(1): Show |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0001a0002c0004t0001a0002c0004t0002 | a0001c0002t0001g0027 a0002c0004t0001g0031 a0002c0004t0001g0098 others(1): Show |
4 | 57 | 0.0702 | -35 | c.210 others(56): Show |
ADGRB3 | ENSG00000135298.15 | transcript | ENST00000370598.6 | protein_coding | 13/31 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ADGRB3_chr6_68630282_69394506 | 69333936 | CAAAATAA others(28): Show |
C | intron_variant | MODIFIER | HG01516.hp1 HG01517.hp2 HG01884.hp1 others(5): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0008 | a0001c0001t0005a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0005g0105 a0001c0002t0001g0014 a0001c0002t0001g0042 others(5): Show |
8 | 36 | 0.2222 | -35 | c.318 others(53): Show |
ADGRB3 | ENSG00000135298.15 | transcript | ENST00000370598.6 | protein_coding | 24/31 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ADGRL2_chr1_81795934_81998932 | 81996257 | AAATGTGT others(28): Show |
A | downstream_gene_variant | MODIFIER | HG02132.hp1 | a0004 | a0004c0006 | a0004c0006t0002 | a0004c0006t0002g0265 | 1 | 304 | 0.0033 | -35 | c.*51 others(46): Show |
ADGRL2 | ENSG00000117114.21 | transcript | ENST00000686636.1 | protein_coding | 2326 | chr1 | TogoVar | |||||||
ADGRL3_chr4_61195326_62083335 | 61448840 | GAAGGAAG others(28): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG01109.hp2 HG01243.hp2 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(25): Show | a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0002g0014 others(26): Show |
29 | 56 | 0.5179 | -35 | c.-17 others(56): Show |
ADGRL3 | ENSG00000150471.17 | transcript | ENST00000683033.1 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ADNP2_chr18_80104262_80145346 | 80136651 | CTGTTGGG others(28): Show |
C | frameshift_variant | HIGH | HG01169.hp1 | a0004 | a0004c0012 | a0004c0012t0002 | a0004c0012t0002g0145 | 1 | 386 | 0.0026 | -35 | c.124 others(44): Show |
p.Val others(5): Show |
ADNP2 | ENSG00000101544.9 | transcript | ENST00000262198.9 | protein_coding | 4/4 | 1464/5157 | 1240/3396 | 414/1131 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||
ADNP_chr20_50883918_50936437 | 50934260 | TTTTAACT others(28): Show |
T | upstream_gene_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0264 | 1 | 356 | 0.0028 | -35 | c.-37 others(46): Show |
ADNP | ENSG00000101126.18 | transcript | ENST00000621696.5 | protein_coding | 2824 | chr20 | TogoVar | |||||||
ADORA2B_chr17_15940130_15980746 | 15976093 | AAAAAAAT others(28): Show |
A | downstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 341 | 0.0029 | -35 | c.*75 others(44): Show |
ADORA2B | ENSG00000170425.4 | transcript | ENST00000304222.3 | protein_coding | 348 | chr17 | TogoVar | |||||||
ADORA2B_chr17_15940130_15980746 | 15976095 | AAAAATAT others(28): Show |
A | downstream_gene_variant | MODIFIER | HG01192.hp2 HG02486.hp2 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0043 |
3 | 336 | 0.0089 | -35 | c.*75 others(44): Show |
ADORA2B | ENSG00000170425.4 | transcript | ENST00000304222.3 | protein_coding | 350 | chr17 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113412913 | CACCCCGC others(28): Show |
C | intron_variant | MODIFIER | HG01952.hp2 HG03710.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0139 a0002c0002t0002g0224 |
2 | 219 | 0.0091 | -35 | c.106 others(54): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
ADSS1_chr14_104719229_104752310 | 104720787 | TCTCGTGT others(28): Show |
T | upstream_gene_variant | MODIFIER | HG01952.hp2 HG02257.hp2 HG02818.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0139 a0001c0002t0001g0206 a0001c0002t0001g0211 others(2): Show |
5 | 374 | 0.0134 | -35 | c.-34 others(46): Show |
ADSS1 | ENSG00000185100.12 | transcript | ENST00000330877.7 | protein_coding | 3441 | chr14 | TogoVar | |||||||
AFAP1_chr4_7753714_7944861 | 7766530 | AGGAAACA others(28): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG01433.hp1 HG01884.hp1 others(22): Show |
a0001a0007 | a0001c0003a0001c0009a0001c0010others(6): Show | a0001c0003t0002a0001c0003t0056a0001c0009t0009others(10): Show | a0001c0003t0002g0008 a0001c0003t0002g0021 a0001c0003t0002g0023 others(22): Show |
25 | 242 | 0.1033 | -35 | c.241 others(54): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 17/17 | chr4 | TogoVar | |||||||
AFAP1_chr4_7753714_7944861 | 7766603 | AAACAGAA others(28): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG02055.hp2 |
a0001 | a0001c0004a0001c0015 | a0001c0004t0062a0001c0015t0006 | a0001c0004t0062g0242 a0001c0015t0006g0139 |
2 | 316 | 0.0063 | -35 | c.241 others(54): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 17/17 | chr4 | TogoVar | |||||||
AFF1_chr4_86930011_87146039 | 87095929 | AAGCTCCA others(28): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG03225.hp1 HG03486.hp1 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0022a0001c0004t0023a0001c0004t0045 | a0001c0004t0022g0243 a0001c0004t0022g0251 a0001c0004t0023g0014 others(2): Show |
5 | 292 | 0.0171 | -35 | c.128 others(52): Show |
AFF1 | ENSG00000172493.23 | transcript | ENST00000395146.9 | protein_coding | 8/20 | chr4 | TogoVar | |||||||
AFF2_chrX_148495617_149005663 | 148795827 | AAAAAAAT others(28): Show |
A | intron_variant | MODIFIER | HG02572.hp1 HG03139.hp1 |
a0001 | a0001c0004 | a0001c0004t0065a0001c0004t0067 | a0001c0004t0065g0004 a0001c0004t0067g0160 |
2 | 165 | 0.0121 | -35 | c.104 others(56): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
AGAP1_chr2_235489043_236136793 | 235573010 | TTCTTCTT others(28): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG03098.hp1 HG03195.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0048a0001c0002t0038a0001c0003t0021others(1): Show | a0001c0001t0048g0054 a0001c0002t0038g0086 a0001c0003t0021g0023 others(1): Show |
4 | 86 | 0.0465 | -35 | c.163 others(54): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AGAP1_chr2_235489043_236136793 | 235677906 | CAAAAAAA others(28): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp1 HG02280.hp1 others(14): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0002a0001c0001t0027a0001c0003t0002others(13): Show | a0001c0001t0002g0060 a0001c0001t0027g0062 a0001c0003t0002g0005 others(14): Show |
17 | 18 | 0.9444 | -35 | c.164 others(54): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AGBL1_chr15_86074871_86921156 | 86808602 | CTTCTTTC others(28): Show |
C | intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0003 | a0001c0003t0051 | a0001c0003t0051g0024 | 1 | 131 | 0.0076 | -35 | c.315 others(56): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AGBL4_chr1_48527854_50028954 | 49302608 | TTTTTATT others(28): Show |
T | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0096 | 1 | 21 | 0.0476 | -35 | c.283 others(54): Show |
AGBL4 | ENSG00000186094.18 | transcript | ENST00000371839.6 | protein_coding | 3/13 | chr1 | TogoVar | |||||||
AGL_chr1_99845361_99929020 | 99856305 | TTCCTCCC others(28): Show |
T | intron_variant | MODIFIER | HG02280.hp2 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0190 | 1 | 310 | 0.0032 | -35 | c.82+ others(50): Show |
AGL | ENSG00000162688.17 | transcript | ENST00000361915.8 | protein_coding | 2/33 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15531452 | CTCTATAT others(28): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00423.hp2 others(85): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0018others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 others(85): Show |
88 | 226 | 0.3894 | -35 | c.409 others(54): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | |||||||
AGMO_chr7_15195317_15567015 | 15531578 | ATATATTC others(28): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02572.hp2 |
a0002a0009 | a0002c0002a0009c0014 | a0002c0002t0004a0009c0014t0001 | a0002c0002t0004g0024 a0009c0014t0001g0179 |
2 | 234 | 0.0085 | -35 | c.409 others(54): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar |