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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AP1S2_chrX_15820806_15859813 | 15824547 | AGT | A | downstream_gene_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0196 | 1 | 318 | 0.0031 | -2 | c.*27 others(13): Show |
AP1S2 | ENSG00000182287.15 | transcript | ENST00000672987.1 | protein_coding | 1258 | chrX | TogoVar | ||||||
AP1S2_chrX_15820806_15859813 | 15826775 | TAA | T | 3_prime_UTR_variant | MODIFIER | HG01891.hp1 HG02622.hp1 HG02970.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0011 | a0001c0001t0006g0109a0001c0001t0006g0110a0001c0001t0006g0111others(3): Show | 6 | 318 | 0.0189 | -2 | c.*54 others(11): Show |
AP1S2 | ENSG00000182287.15 | transcript | ENST00000672987.1 | protein_coding | 6/6 | 548 | chrX | TogoVar | |||||
AP1S2_chrX_15820806_15859813 | 15843024 | CAA | C | intron_variant | MODIFIER | HG00639.hp2 HG01517.hp1 HG02004.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0019a0001c0001t0001g0139a0001c0001t0001g0140others(10): Show | 15 | 318 | 0.0472 | -2 | c.426 others(19): Show |
AP1S2 | ENSG00000182287.15 | transcript | ENST00000672987.1 | protein_coding | 4/5 | chrX | TogoVar | ||||||
AP1S2_chrX_15820806_15859813 | 15850518 | ATT | A | intron_variant | MODIFIER | NA19076.hp1 NA19081.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0068a0001c0001t0003g0067 | 2 | 318 | 0.0063 | -2 | c.179 others(19): Show |
AP1S2 | ENSG00000182287.15 | transcript | ENST00000672987.1 | protein_coding | 2/5 | chrX | TogoVar | ||||||
AP1S2_chrX_15820806_15859813 | 15856256 | CTA | C | upstream_gene_variant | MODIFIER | HG02258.hp1 HG02647.hp1 HG02886.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0026a0001c0001t0002g0119a0001c0001t0002g0120others(1): Show | 5 | 318 | 0.0157 | -2 | c.-15 others(13): Show |
AP1S2 | ENSG00000182287.15 | transcript | ENST00000672987.1 | protein_coding | 1444 | chrX | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223752783 | TTC | T | downstream_gene_variant | MODIFIER | HG00639.hp1 HG02145.hp1 HG02280.hp1 others(13): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0002a0001c0001t0008a0001c0001t0015others(1): Show | a0001c0001t0002g0007a0001c0001t0002g0051a0001c0001t0002g0109others(13): Show | 16 | 340 | 0.0471 | -2 | c.*59 others(13): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 2542 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223761995 | CAG | C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00609.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0010a0001c0001t0024others(3): Show | a0001c0001t0006g0023a0001c0001t0006g0026a0001c0001t0006g0072others(21): Show | 24 | 340 | 0.0706 | -2 | c.429 others(19): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 4/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223762268 | ATT | A | intron_variant | MODIFIER | HG01361.hp2 HG02165.hp1 HG02523.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007a0001c0001t0021others(2): Show | a0001c0001t0005g0088a0001c0001t0005g0199a0001c0001t0005g0211others(13): Show | 16 | 340 | 0.0471 | -2 | c.429 others(19): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 4/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223769736 | ATT | A | intron_variant | MODIFIER | HG00639.hp1 HG01496.hp1 HG01993.hp2 others(66): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(16): Show | a0001c0001t0002g0006a0001c0001t0002g0007a0001c0001t0002g0035others(66): Show | 69 | 340 | 0.2029 | -2 | c.292 others(19): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 3/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223773591 | ATT | A | intron_variant | MODIFIER | HG02451.hp2 HG02965.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0068 | a0001c0001t0007g0156a0001c0001t0007g0337a0001c0001t0068g0173 | 3 | 340 | 0.0088 | -2 | c.291 others(19): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 3/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223780276 | AAT | A | intron_variant | MODIFIER | HG01243.hp2 HG01515.hp1 HG02080.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(3): Show | a0001c0001t0001g0043a0001c0001t0001g0094a0001c0001t0001g0192others(9): Show | 12 | 340 | 0.0353 | -2 | c.4-2 others(15): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223780308 | TAG | T | intron_variant | MODIFIER | HG00735.hp2 HG01175.hp1 HG02074.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0001a0001c0001t0002g0060a0001c0001t0002g0076others(7): Show | 11 | 340 | 0.0324 | -2 | c.4-2 others(15): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223784064 | GCA | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(302): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(65): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0032others(301): Show | 305 | 340 | 0.8971 | -2 | c.4-6 others(15): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223796156 | CAG | C | intron_variant | MODIFIER | HG00408.hp1 HG01070.hp2 HG01071.hp1 others(13): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0192a0001c0001t0001g0202a0001c0001t0003g0198others(13): Show | 16 | 340 | 0.0471 | -2 | c.4-1 others(17): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223799208 | GAC | G | intron_variant | MODIFIER | HG00639.hp1 HG02055.hp2 HG02074.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(8): Show | a0001c0001t0002g0060a0001c0001t0002g0174a0001c0001t0003g0184others(9): Show | 12 | 340 | 0.0353 | -2 | c.4-2 others(17): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223804821 | TTA | T | intron_variant | MODIFIER | HG02257.hp1 HG02630.hp1 HG02818.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0009a0002c0002t0002 | a0001c0001t0009g0166a0001c0001t0009g0167a0001c0001t0009g0168others(2): Show | 5 | 340 | 0.0147 | -2 | c.4-2 others(17): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223806277 | ATT | A | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(49): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0032a0001c0001t0001g0043a0001c0001t0001g0327others(49): Show | 52 | 340 | 0.1529 | -2 | c.4-2 others(17): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223819931 | TAA | T | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(113): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0032a0001c0001t0001g0043a0001c0001t0001g0046others(113): Show | 116 | 340 | 0.3412 | -2 | c.3+1 others(17): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223824550 | GTT | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(185): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(49): Show | a0001c0001t0001g0001a0001c0001t0001g0032a0001c0001t0001g0043others(184): Show | 188 | 340 | 0.5529 | -2 | c.3+1 others(17): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223828058 | TAA | T | intron_variant | MODIFIER | HG00423.hp1 HG01070.hp2 HG01071.hp1 others(20): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0203a0001c0001t0001g0204a0001c0001t0001g0239others(20): Show | 23 | 340 | 0.0677 | -2 | c.3+9 others(15): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223828702 | GAC | G | intron_variant | MODIFIER | HG02451.hp2 HG02486.hp2 HG02630.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0007a0001c0001t0021others(2): Show | a0001c0001t0002g0309a0001c0001t0002g0310a0001c0001t0007g0337others(4): Show | 7 | 340 | 0.0206 | -2 | c.3+8 others(15): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223832129 | TTC | T | intron_variant | MODIFIER | HG02027.hp1 HG02273.hp1 HG02486.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0032a0001c0001t0001g0094a0001c0001t0002g0008others(7): Show | 10 | 340 | 0.0294 | -2 | c.3+5 others(15): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223832135 | CTG | C | intron_variant | MODIFIER | HG00423.hp2 HG00673.hp1 HG01515.hp1 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0276a0001c0001t0002g0273a0001c0001t0003g0287others(12): Show | 15 | 340 | 0.0441 | -2 | c.3+5 others(15): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223832807 | CTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(171): Show |
a0001a0005 | a0001c0001a0001c0003a0005c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(45): Show | a0001c0001t0001g0001a0001c0001t0001g0032a0001c0001t0001g0043others(170): Show | 174 | 340 | 0.5118 | -2 | c.3+4 others(15): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP2A1_chr19_49762001_49812114 | 49764204 | ATT | A | upstream_gene_variant | MODIFIER | HG01515.hp2 HG02055.hp2 HG02109.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171a0001c0001t0001g0203a0001c0001t0001g0212others(5): Show | 8 | 342 | 0.0234 | -2 | c.-29 others(13): Show |
AP2A1 | ENSG00000196961.13 | transcript | ENST00000354293.10 | protein_coding | 2796 | chr19 | TogoVar | ||||||
AP2A1_chr19_49762001_49812114 | 49771448 | TTG | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(124): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(106): Show | 127 | 342 | 0.3714 | -2 | c.67+ others(17): Show |
AP2A1 | ENSG00000196961.13 | transcript | ENST00000354293.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AP2A1_chr19_49762001_49812114 | 49772246 | GTT | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(121): Show |
a0001a0002 | a0001c0001a0001c0010a0002c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(102): Show | 124 | 342 | 0.3626 | -2 | c.67+ others(17): Show |
AP2A1 | ENSG00000196961.13 | transcript | ENST00000354293.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AP2A1_chr19_49762001_49812114 | 49774918 | CAA | C | intron_variant | MODIFIER | HG00280.hp2 HG00642.hp2 HG01167.hp2 others(9): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0006t0002 | a0001c0001t0001g0064a0001c0001t0002g0040a0001c0001t0002g0041others(9): Show | 12 | 342 | 0.0351 | -2 | c.68- others(17): Show |
AP2A1 | ENSG00000196961.13 | transcript | ENST00000354293.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AP2A1_chr19_49762001_49812114 | 49776631 | CCT | C | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00438.hp2 others(74): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0015others(70): Show | 77 | 342 | 0.2252 | -2 | c.68- others(17): Show |
AP2A1 | ENSG00000196961.13 | transcript | ENST00000354293.10 | protein_coding | 1/22 | chr19 | TogoVar | ||||||
AP2A1_chr19_49762001_49812114 | 49778902 | CAT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(125): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(107): Show | 128 | 342 | 0.3743 | -2 | c.68- others(17): Show |
AP2A1 | ENSG00000196961.13 | transcript | ENST00000354293.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AP2A1_chr19_49762001_49812114 | 49779336 | CAA | C | intron_variant | MODIFIER | HG01515.hp2 HG01884.hp2 HG02004.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0135a0001c0001t0001g0160a0001c0001t0001g0171others(6): Show | 9 | 342 | 0.0263 | -2 | c.68- others(17): Show |
AP2A1 | ENSG00000196961.13 | transcript | ENST00000354293.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AP2A1_chr19_49762001_49812114 | 49789590 | CTT | C | intron_variant | MODIFIER | HG01515.hp1 HG01517.hp2 HG02559.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062a0001c0001t0001g0063a0001c0001t0001g0068others(3): Show | 6 | 342 | 0.0175 | -2 | c.474 others(19): Show |
AP2A1 | ENSG00000196961.13 | transcript | ENST00000354293.10 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AP2A1_chr19_49762001_49812114 | 49796659 | CCT | C | intron_variant | MODIFIER | HG00609.hp2 HG00673.hp1 HG00738.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0102a0001c0001t0001g0116others(9): Show | 14 | 342 | 0.0409 | -2 | c.814 others(17): Show |
AP2A1 | ENSG00000196961.13 | transcript | ENST00000354293.10 | protein_coding | 7/22 | chr19 | TogoVar | ||||||
AP2A1_chr19_49762001_49812114 | 49810678 | CAA | C | downstream_gene_variant | MODIFIER | HG01515.hp1 HG02723.hp1 HG03041.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0073a0001c0001t0001g0220others(3): Show | 7 | 342 | 0.0205 | -2 | c.*39 others(13): Show |
AP2A1 | ENSG00000196961.13 | transcript | ENST00000354293.10 | protein_coding | 3565 | chr19 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 927510 | TAA | T | intron_variant | MODIFIER | HG01071.hp2 HG06807.hp2 NA18945.hp1 others(3): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0002t0012a0001c0003t0002 | a0001c0002t0002g0217a0001c0002t0002g0219a0001c0002t0002g0221others(3): Show | 6 | 268 | 0.0224 | -2 | c.67+ others(17): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AP2A2_chr11_920870_1017240 | 931802 | GTT | G | intron_variant | MODIFIER | HG01109.hp2 HG01192.hp2 HG01243.hp1 others(19): Show |
a0001a0003 | a0001c0002a0001c0003a0001c0008others(1): Show | a0001c0002t0002a0001c0002t0004a0001c0003t0004others(2): Show | a0001c0002t0002g0003a0001c0002t0002g0004a0001c0002t0002g0226others(19): Show | 22 | 268 | 0.0821 | -2 | c.67+ others(17): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AP2A2_chr11_920870_1017240 | 935603 | GTT | G | intron_variant | MODIFIER | HG01109.hp2 HG01192.hp2 HG01243.hp1 others(18): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0002others(3): Show | a0001c0001t0001g0021a0001c0001t0001g0121a0001c0001t0006g0009others(18): Show | 21 | 268 | 0.0784 | -2 | c.67+ others(17): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AP2A2_chr11_920870_1017240 | 940472 | TTC | T | intron_variant | MODIFIER | HG01243.hp2 NA19240.hp1 |
a0001 | a0001c0004 | a0001c0004t0009 | a0001c0004t0009g0260a0001c0004t0009g0261 | 2 | 268 | 0.0075 | -2 | c.67+ others(19): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AP2A2_chr11_920870_1017240 | 949765 | ACT | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(135): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0010others(135): Show | 138 | 268 | 0.5149 | -2 | c.68- others(17): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AP2A2_chr11_920870_1017240 | 983017 | CTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(139): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0006a0001c0001t0001g0010a0001c0001t0001g0011others(139): Show | 142 | 268 | 0.5299 | -2 | c.706 others(19): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AP2A2_chr11_920870_1017240 | 999803 | CTT | C | intron_variant | MODIFIER | HG00741.hp1 HG01069.hp1 HG01255.hp2 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0007a0001c0001t0015others(2): Show | a0001c0001t0001g0007a0001c0001t0001g0023a0001c0001t0001g0047others(6): Show | 9 | 268 | 0.0336 | -2 | c.195 others(19): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AP2A2_chr11_920870_1017240 | 1008398 | GCC | G | intron_variant | MODIFIER | HG01192.hp2 HG01346.hp1 HG01943.hp1 others(2): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0004 | a0001c0002t0002g0233a0001c0002t0002g0234a0001c0002t0002g0235others(2): Show | 5 | 268 | 0.0187 | -2 | c.242 others(19): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AP2B1_chr17_35582322_35731413 | 35582406 | GTT | G | upstream_gene_variant | MODIFIER | HG00558.hp1 HG00673.hp1 HG01070.hp1 others(45): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0007 | a0001c0001t0003a0001c0001t0005a0001c0001t0017others(2): Show | a0001c0001t0003g0006a0001c0001t0003g0007a0001c0001t0003g0008others(45): Show | 48 | 372 | 0.1290 | -2 | c.-50 others(13): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 4915 | chr17 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35583115 | CTT | C | upstream_gene_variant | MODIFIER | HG00733.hp2 HG01106.hp1 HG01192.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0004a0001c0001t0007a0001c0002t0001others(3): Show | a0001c0001t0004g0318a0001c0001t0007g0158a0001c0002t0001g0187others(12): Show | 15 | 372 | 0.0403 | -2 | c.-43 others(13): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 4206 | chr17 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35583509 | GTT | G | upstream_gene_variant | MODIFIER | HG01981.hp1 HG02698.hp2 HG03942.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005 | a0001c0001t0003g0039a0001c0001t0004g0318a0001c0001t0004g0329others(2): Show | 5 | 372 | 0.0134 | -2 | c.-39 others(13): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 3812 | chr17 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35583514 | TTC | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(54): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0003g0009a0001c0001t0004g0320a0001c0001t0004g0321others(54): Show | 57 | 372 | 0.1532 | -2 | c.-39 others(13): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 3807 | chr17 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35588066 | CTT | C | intron_variant | MODIFIER | HG01884.hp2 HG02258.hp1 HG02976.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0008a0001c0002t0001 | a0001c0001t0002g0053a0001c0001t0008g0054a0001c0001t0008g0055others(5): Show | 8 | 372 | 0.0215 | -2 | c.-24 others(17): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AP2B1_chr17_35582322_35731413 | 35591171 | CAA | C | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00544.hp1 others(72): Show |
a0001 | a0001c0001a0001c0005a0001c0008 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(5): Show | a0001c0001t0002g0001a0001c0001t0002g0053a0001c0001t0002g0064others(71): Show | 75 | 372 | 0.2016 | -2 | c.-23 others(19): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AP2B1_chr17_35582322_35731413 | 35600821 | TAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG00673.hp2 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007a0001c0001t0016 | a0001c0001t0004g0318a0001c0001t0004g0320a0001c0001t0004g0321others(36): Show | 39 | 372 | 0.1048 | -2 | c.143 others(19): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 3/21 | chr17 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35612877 | TGC | T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0002a0001c0001t0002g0170a0001c0001t0002g0171others(9): Show | 13 | 372 | 0.0350 | -2 | c.525 others(19): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |