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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AGBL1_chr15_86074871_86921156 | 86895052 | T | TCTTTCTT others(17): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01884.hp1 HG02145.hp2 others(5): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0003a0001c0002t0016a0001c0006t0007others(4): Show | a0001c0001t0003g0097a0001c0002t0016g0001a0001c0002t0016g0004others(5): Show | 8 | 132 | 0.0606 | 24 | c.315 others(45): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
AGBL2_chr11_47654591_47720369 | 47678335 | A | ATTTTATT others(17): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0068 | 1 | 356 | 0.0028 | 24 | c.201 others(41): Show |
AGBL2 | ENSG00000165923.17 | transcript | ENST00000525123.6 | protein_coding | 13/18 | chr11 | TogoVar | ||||||
AGBL2_chr11_47654591_47720369 | 47678335 | A | ATTTTATT others(17): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01261.hp1 HG02683.hp1 others(7): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0002a0003c0003t0002 | a0002c0002t0002g0012a0002c0002t0002g0059a0002c0002t0002g0065others(7): Show | 10 | 356 | 0.0281 | 24 | c.201 others(41): Show |
AGBL2 | ENSG00000165923.17 | transcript | ENST00000525123.6 | protein_coding | 13/18 | chr11 | TogoVar | ||||||
AGBL2_chr11_47654591_47720369 | 47691729 | A | AAAAAAAA others(17): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0260 | 1 | 356 | 0.0028 | 24 | c.848 others(39): Show |
AGBL2 | ENSG00000165923.17 | transcript | ENST00000525123.6 | protein_coding | 9/18 | chr11 | TogoVar | ||||||
AGBL2_chr11_47654591_47720369 | 47691729 | A | AAAAAAAA others(17): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251 | 1 | 356 | 0.0028 | 24 | c.848 others(39): Show |
AGBL2 | ENSG00000165923.17 | transcript | ENST00000525123.6 | protein_coding | 9/18 | chr11 | TogoVar | ||||||
AGBL2_chr11_47654591_47720369 | 47691729 | A | AAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00642.hp1 NA18977.hp1 |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0001a0002c0002t0002a0004c0005t0001 | a0001c0001t0001g0298a0002c0002t0002g0058a0004c0005t0001g0273 | 3 | 356 | 0.0084 | 24 | c.848 others(39): Show |
AGBL2 | ENSG00000165923.17 | transcript | ENST00000525123.6 | protein_coding | 9/18 | chr11 | TogoVar | ||||||
AGBL2_chr11_47654591_47720369 | 47691729 | A | AAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01081.hp2 HG02818.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0219a0001c0001t0001g0247a0002c0002t0002g0038others(1): Show | 4 | 356 | 0.0112 | 24 | c.848 others(39): Show |
AGBL2 | ENSG00000165923.17 | transcript | ENST00000525123.6 | protein_coding | 9/18 | chr11 | TogoVar | ||||||
AGBL2_chr11_47654591_47720369 | 47691729 | A | AAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01243.hp1 HG03486.hp2 others(1): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0004 | a0001c0001t0001a0002c0002t0002a0006c0004t0002 | a0001c0001t0001g0267a0001c0001t0001g0310a0002c0002t0002g0057others(1): Show | 4 | 356 | 0.0112 | 24 | c.848 others(39): Show |
AGBL2 | ENSG00000165923.17 | transcript | ENST00000525123.6 | protein_coding | 9/18 | chr11 | TogoVar | ||||||
AGBL2_chr11_47654591_47720369 | 47691729 | A | AAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0006 | a0006c0004 | a0006c0004t0002 | a0006c0004t0002g0346 | 1 | 356 | 0.0028 | 24 | c.848 others(39): Show |
AGBL2 | ENSG00000165923.17 | transcript | ENST00000525123.6 | protein_coding | 9/18 | chr11 | TogoVar | ||||||
AGBL2_chr11_47654591_47720369 | 47691729 | A | AAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 356 | 0.0028 | 24 | c.848 others(39): Show |
AGBL2 | ENSG00000165923.17 | transcript | ENST00000525123.6 | protein_coding | 9/18 | chr11 | TogoVar | ||||||
AGBL3_chr7_134981508_135140778 | 135026248 | T | TTTTATTT others(17): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00642.hp2 others(50): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0005others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(3): Show | a0001c0001t0001g0005a0001c0001t0001g0107a0001c0001t0001g0130others(48): Show | 53 | 320 | 0.1656 | 24 | c.419 others(41): Show |
AGBL3 | ENSG00000146856.14 | transcript | ENST00000436302.6 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AGBL3_chr7_134981508_135140778 | 135026253 | T | TTTTATTT others(17): Show |
intron_variant | MODIFIER | HG03098.hp2 HG03195.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0270a0001c0001t0005g0271a0001c0001t0005g0272 | 3 | 320 | 0.0094 | 24 | c.419 others(41): Show |
AGBL3 | ENSG00000146856.14 | transcript | ENST00000436302.6 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AGBL3_chr7_134981508_135140778 | 135096572 | G | GATAGATA others(17): Show |
intron_variant | MODIFIER | HG01123.hp2 HG02145.hp1 HG02257.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0002 | a0001c0001t0003g0225a0001c0001t0003g0237a0002c0002t0002g0031 | 3 | 320 | 0.0094 | 24 | c.211 others(45): Show |
AGBL3 | ENSG00000146856.14 | transcript | ENST00000436302.6 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AGBL3_chr7_134981508_135140778 | 135096576 | G | GATAGATA others(17): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00733.hp2 HG01993.hp2 others(9): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0003a0002c0002t0002a0004c0005t0002 | a0001c0001t0003g0208a0001c0001t0003g0216a0001c0001t0003g0235others(9): Show | 12 | 320 | 0.0375 | 24 | c.211 others(45): Show |
AGBL3 | ENSG00000146856.14 | transcript | ENST00000436302.6 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AGBL3_chr7_134981508_135140778 | 135096580 | G | GATAGATA others(17): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02965.hp2 NA18966.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0006a0001c0001t0002g0012a0001c0001t0002g0274others(3): Show | 7 | 320 | 0.0219 | 24 | c.211 others(45): Show |
AGBL3 | ENSG00000146856.14 | transcript | ENST00000436302.6 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AGBL4_chr1_48527854_50028954 | 48996817 | C | CCCTTCCT others(17): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01167.hp2 HG01496.hp2 others(10): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(2): Show | a0001c0001t0001g0014a0001c0001t0001g0040a0001c0001t0001g0043others(10): Show | 13 | 104 | 0.1250 | 24 | c.594 others(43): Show |
AGBL4 | ENSG00000186094.18 | transcript | ENST00000371839.6 | protein_coding | 5/13 | chr1 | TogoVar | ||||||
AGBL4_chr1_48527854_50028954 | 49303451 | T | TTTTATTT others(17): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02451.hp2 HG02559.hp2 others(17): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0043a0001c0001t0002g0044a0001c0001t0003g0100others(17): Show | 20 | 104 | 0.1923 | 24 | c.283 others(43): Show |
AGBL4 | ENSG00000186094.18 | transcript | ENST00000371839.6 | protein_coding | 3/13 | chr1 | TogoVar | ||||||
AGBL4_chr1_48527854_50028954 | 49971907 | G | GTTGTTTT others(17): Show |
intron_variant | MODIFIER | HG04204.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0014a0001c0001t0004g0081 | 2 | 104 | 0.0192 | 24 | c.34+ others(41): Show |
AGBL4 | ENSG00000186094.18 | transcript | ENST00000371839.6 | protein_coding | 1/13 | chr1 | TogoVar | ||||||
AGBL4_chr1_48527854_50028954 | 50019306 | T | TCTCTCTC others(17): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0010 | 1 | 104 | 0.0096 | 24 | c.34+ others(39): Show |
AGBL4 | ENSG00000186094.18 | transcript | ENST00000371839.6 | protein_coding | 1/13 | chr1 | TogoVar | ||||||
AGFG2_chr7_100534203_100573220 | 100551030 | T | TTATATAT others(17): Show |
intron_variant | MODIFIER | HG00609.hp1 HG03831.hp2 NA18951.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0003 | a0001c0001t0001g0092a0001c0001t0001g0122a0001c0001t0001g0190others(2): Show | 5 | 246 | 0.0203 | 24 | c.431 others(39): Show |
AGFG2 | ENSG00000106351.13 | transcript | ENST00000300176.9 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AGK_chr7_141546410_141660244 | 141602173 | T | TTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01168.hp1 HG01943.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0023others(15): Show | 18 | 274 | 0.0657 | 24 | c.297 others(39): Show |
AGK | ENSG00000006530.18 | transcript | ENST00000649286.2 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AGK_chr7_141546410_141660244 | 141604374 | G | GTGTGTAT others(17): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0259 | 1 | 274 | 0.0037 | 24 | c.297 others(41): Show |
AGK | ENSG00000006530.18 | transcript | ENST00000649286.2 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AGMO_chr7_15195317_15567015 | 15354433 | T | TATATAGA others(17): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 236 | 0.0042 | 24 | c.126 others(45): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 12/12 | chr7 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15396640 | T | TGCTGATT others(17): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01167.hp1 HG01169.hp2 others(5): Show |
a0001a0013 | a0001c0001a0001c0005a0013c0016 | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(1): Show | a0001c0001t0001g0048a0001c0001t0001g0056a0001c0001t0001g0175others(5): Show | 8 | 236 | 0.0339 | 24 | c.610 others(41): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 5/12 | chr7 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15407232 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG02683.hp1 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0005a0001c0005t0001 | a0001c0001t0001g0032a0001c0001t0005g0115a0001c0001t0005g0116others(1): Show | 4 | 236 | 0.0170 | 24 | c.609 others(43): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 5/12 | chr7 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15432369 | C | CACACACA others(17): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 236 | 0.0042 | 24 | c.410 others(41): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15432369 | C | CACATATA others(17): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01168.hp2 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0115a0001c0001t0005g0116a0001c0001t0005g0145 | 3 | 236 | 0.0127 | 24 | c.410 others(41): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15459599 | T | TTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG01433.hp1 HG01517.hp2 HG01891.hp1 others(17): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0011others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(7): Show | a0001c0001t0001g0036a0001c0001t0001g0040a0001c0001t0001g0048others(17): Show | 20 | 236 | 0.0848 | 24 | c.410 others(43): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15529556 | A | AGTATATA others(17): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0003 | a0003c0009 | a0003c0009t0007 | a0003c0009t0007g0005 | 1 | 236 | 0.0042 | 24 | c.409 others(43): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15531028 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02965.hp2 |
a0004a0007 | a0004c0008a0007c0024 | a0004c0008t0001a0007c0024t0004 | a0004c0008t0001g0225a0007c0024t0004g0224 | 2 | 236 | 0.0085 | 24 | c.409 others(43): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15531487 | T | TTCTATAT others(17): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0172 | 1 | 236 | 0.0042 | 24 | c.409 others(43): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15531563 | C | CTATATAT others(17): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0217 | 1 | 236 | 0.0042 | 24 | c.409 others(43): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15531585 | C | CTATATAT others(17): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0190 | 1 | 236 | 0.0042 | 24 | c.409 others(43): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | ||||||
AGO4_chr1_35803016_35862890 | 35818658 | A | AAAGAAAG others(17): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01261.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0030a0001c0001t0006g0048 | 2 | 270 | 0.0074 | 24 | c.185 others(41): Show |
AGO4 | ENSG00000134698.11 | transcript | ENST00000373210.4 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AGO4_chr1_35803016_35862890 | 35818658 | A | AAAGAAAG others(17): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02647.hp2 HG02723.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007 | a0001c0001t0003g0003a0001c0001t0003g0019a0001c0001t0003g0022others(4): Show | 8 | 270 | 0.0296 | 24 | c.185 others(41): Show |
AGO4 | ENSG00000134698.11 | transcript | ENST00000373210.4 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AGO4_chr1_35803016_35862890 | 35841811 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0254 | 1 | 270 | 0.0037 | 24 | c.217 others(39): Show |
AGO4 | ENSG00000134698.11 | transcript | ENST00000373210.4 | protein_coding | 15/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AGPAT3_chr21_43860223_43992592 | 43959082 | T | TGTGTGTG others(17): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0003 | 1 | 342 | 0.0029 | 24 | c.-48 others(39): Show |
AGPAT3 | ENSG00000160216.21 | transcript | ENST00000291572.13 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
AGPAT3_chr21_43860223_43992592 | 43990947 | G | GTATGTAT others(17): Show |
downstream_gene_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0064 | a0001c0001t0064g0147 | 1 | 342 | 0.0029 | 24 | c.*85 others(35): Show |
AGPAT3 | ENSG00000160216.21 | transcript | ENST00000291572.13 | protein_coding | 3356 | chr21 | TogoVar | ||||||
AGPS_chr2_177387773_177548834 | 177414897 | C | CGTGTGTG others(17): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0213 | 1 | 258 | 0.0039 | 24 | c.261 others(41): Show |
AGPS | ENSG00000018510.18 | transcript | ENST00000264167.11 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AGR3_chr7_16854412_16886983 | 16880086 | C | CCCTTCCT others(17): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01433.hp1 HG02300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039a0001c0001t0001g0217 | 3 | 458 | 0.0066 | 24 | c.-27 others(41): Show |
AGR3 | ENSG00000173467.9 | transcript | ENST00000310398.7 | protein_coding | 1/7 | chr7 | TogoVar | ||||||
AGR3_chr7_16854412_16886983 | 16885081 | G | GTGTGTGT others(17): Show |
upstream_gene_variant | MODIFIER | HG02280.hp2 HG02922.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0003 | a0001c0001t0002g0257a0001c0002t0003g0255 | 2 | 458 | 0.0044 | 24 | c.-31 others(35): Show |
AGR3 | ENSG00000173467.9 | transcript | ENST00000310398.7 | protein_coding | 3099 | chr7 | TogoVar | ||||||
AGTPBP1_chr9_85541539_85746954 | 85630387 | C | CTTATTTA others(17): Show |
intron_variant | MODIFIER | HG00735.hp2 HG03486.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0291a0001c0002t0003g0292 | 2 | 302 | 0.0066 | 24 | c.201 others(43): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 14/25 | chr9 | TogoVar | ||||||
AGTPBP1_chr9_85541539_85746954 | 85630391 | C | CTTATTTA others(17): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 302 | 0.0033 | 24 | c.201 others(43): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 14/25 | chr9 | TogoVar | ||||||
AGXT_chr2_240863824_240885500 | 240883694 | C | CTTTTTTT others(17): Show |
downstream_gene_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0066 | 1 | 444 | 0.0023 | 24 | c.*48 others(35): Show |
AGXT | ENSG00000172482.5 | transcript | ENST00000307503.4 | protein_coding | 3195 | chr2 | TogoVar | ||||||
AHCYL2_chr7_129220030_129435211 | 129365628 | G | GTATATAT others(17): Show |
intron_variant | MODIFIER | HG01952.hp2 HG02004.hp2 HG02886.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0026a0001c0001t0002g0040a0001c0001t0005g0051others(1): Show | 4 | 292 | 0.0137 | 24 | c.364 others(43): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AHDC1_chr1_27529245_27609144 | 27595450 | C | CTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0006 | a0006c0018 | a0006c0018t0010 | a0006c0018t0010g0097 | 1 | 180 | 0.0056 | 24 | c.-62 others(43): Show |
AHDC1 | ENSG00000126705.15 | transcript | ENST00000673934.1 | protein_coding | 3/8 | chr1 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135482894 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02280.hp1 HG03098.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0001c0001t0004a0002c0004t0002 | a0001c0001t0002g0173a0001c0001t0002g0206a0001c0001t0004g0016others(2): Show | 5 | 220 | 0.0227 | 24 | c.135 others(41): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 5/28 | chr6 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 340688 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0004 | a0004c0003 | a0004c0003t0023 | a0004c0003t0023g0228 | 1 | 268 | 0.0037 | 24 | c.-10 others(41): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AHRR_chr5_316714_443285 | 340688 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0227 | 1 | 268 | 0.0037 | 24 | c.-10 others(41): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AHRR_chr5_316714_443285 | 340688 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0004 | a0004c0003 | a0004c0003t0009 | a0004c0003t0009g0224 | 1 | 268 | 0.0037 | 24 | c.-10 others(41): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |