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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AP1G2_chr14_23554567_23572791 | 23560778 | CAAAA | C | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG01891.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0050a0001c0001t0001g0051a0001c0002t0001g0006 | 16 | 396 | 0.0404 | -4 | c.199 others(21): Show |
AP1G2 | ENSG00000213983.12 | transcript | ENST00000397120.8 | protein_coding | 19/21 | chr14 | TogoVar | ||||||
AP1G2_chr14_23554567_23572791 | 23562756 | AAGAG | A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00558.hp1 others(71): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0038others(10): Show | 74 | 396 | 0.1869 | -4 | c.141 others(21): Show |
AP1G2 | ENSG00000213983.12 | transcript | ENST00000397120.8 | protein_coding | 14/21 | chr14 | TogoVar | ||||||
AP1M1_chr19_16192911_16250906 | 16240270 | GTGTA | G | 3_prime_UTR_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02145.hp2 |
a0001 | a0001c0001 | a0001c0001t0118a0001c0001t0120a0001c0001t0153 | a0001c0001t0118g0282a0001c0001t0120g0270a0001c0001t0153g0033 | 3 | 308 | 0.0097 | -4 | c.*58 others(15): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 12/12 | 5839 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
AP1M1_chr19_16192911_16250906 | 16250288 | GTGTA | G | downstream_gene_variant | MODIFIER | HG02723.hp2 HG03453.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0126a0001c0001t0127a0001c0001t0150 | a0001c0001t0126g0014a0001c0001t0127g0012a0001c0001t0150g0015 | 3 | 308 | 0.0097 | -4 | c.*15 others(17): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 4383 | chr19 | TogoVar | ||||||
AP1M2_chr19_10567671_10592312 | 10570547 | CAAAA | C | downstream_gene_variant | MODIFIER | HG00323.hp2 HG01069.hp2 HG01071.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032a0001c0001t0001g0033a0001c0001t0001g0327others(10): Show | 14 | 394 | 0.0355 | -4 | c.*25 others(15): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 2123 | chr19 | TogoVar | ||||||
AP1M2_chr19_10567671_10592312 | 10577423 | CTTTT | C | intron_variant | MODIFIER | HG00741.hp2 HG01346.hp2 HG02055.hp1 others(16): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(2): Show | a0001c0002t0001g0117a0001c0002t0002g0082a0001c0002t0002g0104others(15): Show | 19 | 394 | 0.0482 | -4 | c.889 others(17): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 8/11 | chr19 | TogoVar | ||||||
AP1M2_chr19_10567671_10592312 | 10578489 | AAACG | A | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00544.hp1 others(171): Show |
a0001a0002 | a0001c0002a0001c0006a0002c0007 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(8): Show | a0001c0002t0001g0018a0001c0002t0001g0083a0001c0002t0001g0084others(140): Show | 174 | 394 | 0.4416 | -4 | c.888 others(19): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 8/11 | chr19 | TogoVar | ||||||
AP1M2_chr19_10567671_10592312 | 10585259 | AGAAG | A | intron_variant | MODIFIER | HG00621.hp2 HG00639.hp2 HG02080.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0266a0001c0002t0001g0083a0001c0002t0001g0117others(14): Show | 18 | 394 | 0.0457 | -4 | c.43- others(19): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
AP1M2_chr19_10567671_10592312 | 10585279 | GAAAA | G | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG00673.hp2 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(1): Show | a0001c0001t0001g0101a0001c0001t0001g0236a0001c0001t0001g0305others(25): Show | 31 | 394 | 0.0787 | -4 | c.43- others(19): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
AP1S2_chrX_15820806_15859813 | 15824736 | CATAA | C | downstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 318 | 0.0031 | -4 | c.*25 others(15): Show |
AP1S2 | ENSG00000182287.15 | transcript | ENST00000672987.1 | protein_coding | 1069 | chrX | TogoVar | ||||||
AP1S2_chrX_15820806_15859813 | 15830187 | CACAA | C | intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0129 | 1 | 318 | 0.0031 | -4 | c.427 others(21): Show |
AP1S2 | ENSG00000182287.15 | transcript | ENST00000672987.1 | protein_coding | 4/5 | chrX | TogoVar | ||||||
AP1S2_chrX_15820806_15859813 | 15834439 | AATAT | A | intron_variant | MODIFIER | HG00597.hp2 HG02258.hp1 HG02647.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0026a0001c0001t0002g0102a0001c0001t0002g0119others(1): Show | 5 | 318 | 0.0157 | -4 | c.427 others(21): Show |
AP1S2 | ENSG00000182287.15 | transcript | ENST00000672987.1 | protein_coding | 4/5 | chrX | TogoVar | ||||||
AP1S2_chrX_15820806_15859813 | 15848931 | GTATT | G | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0071 | 1 | 318 | 0.0031 | -4 | c.180 others(21): Show |
AP1S2 | ENSG00000182287.15 | transcript | ENST00000672987.1 | protein_coding | 2/5 | chrX | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223756486 | AAAAG | A | 3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00609.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0010a0001c0001t0024others(3): Show | a0001c0001t0006g0023a0001c0001t0006g0026a0001c0001t0006g0072others(21): Show | 24 | 340 | 0.0706 | -4 | c.*22 others(15): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 5/5 | 2225 | chr2 | TogoVar | |||||
AP1S3_chr2_223750326_223842582 | 223763916 | CTTAT | C | intron_variant | MODIFIER | HG02630.hp1 HG02818.hp1 HG03041.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0040a0001c0001t0009g0166a0001c0001t0009g0167others(4): Show | 7 | 340 | 0.0206 | -4 | c.429 others(21): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 4/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223774372 | TAATA | T | intron_variant | MODIFIER | HG00738.hp1 HG01981.hp2 HG01993.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(5): Show | a0001c0001t0003g0024a0001c0001t0003g0027a0001c0001t0003g0029others(11): Show | 14 | 340 | 0.0412 | -4 | c.291 others(21): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 3/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223778116 | TTTTG | T | intron_variant | MODIFIER | HG00673.hp1 HG01261.hp2 NA18971.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0072a0001c0001t0006g0078a0001c0001t0006g0286others(1): Show | 4 | 340 | 0.0118 | -4 | c.4-2 others(15): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223780276 | AATAT | A | intron_variant | MODIFIER | HG00140.hp1 HG00609.hp1 HG01168.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(9): Show | a0001c0001t0001g0204a0001c0001t0001g0206a0001c0001t0001g0247others(12): Show | 15 | 340 | 0.0441 | -4 | c.4-2 others(17): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223780306 | TATAG | T | intron_variant | MODIFIER | HG03710.hp1 NA18906.hp2 NA18998.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0015 | a0001c0001t0001g0046a0001c0001t0001g0050a0001c0001t0001g0110others(3): Show | 6 | 340 | 0.0177 | -4 | c.4-2 others(17): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223780308 | TAGAG | T | intron_variant | MODIFIER | HG00639.hp1 HG01074.hp1 HG01123.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0057a0001c0001t0003g0031a0001c0001t0004g0108others(8): Show | 11 | 340 | 0.0324 | -4 | c.4-2 others(17): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223793049 | CCATT | C | intron_variant | MODIFIER | HG00423.hp1 HG01106.hp2 HG01168.hp1 others(50): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0058a0001c0001t0001g0070a0001c0001t0001g0144others(50): Show | 53 | 340 | 0.1559 | -4 | c.4-1 others(19): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223799208 | GACAC | G | intron_variant | MODIFIER | HG00423.hp1 HG01891.hp2 HG01981.hp1 others(38): Show |
a0001a0005 | a0001c0001a0001c0003a0005c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0058a0001c0001t0001g0070a0001c0001t0001g0222others(38): Show | 41 | 340 | 0.1206 | -4 | c.4-2 others(19): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223799917 | CAATT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(137): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0001a0001c0001t0001g0032a0001c0001t0001g0043others(136): Show | 140 | 340 | 0.4118 | -4 | c.4-2 others(19): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223806277 | ATTTT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00639.hp2 others(68): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(22): Show | a0001c0001t0001g0001a0001c0001t0001g0110a0001c0001t0001g0119others(67): Show | 71 | 340 | 0.2088 | -4 | c.4-2 others(19): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223832129 | TTCTC | T | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00673.hp2 others(10): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0327a0001c0001t0002g0035a0001c0001t0002g0041others(10): Show | 13 | 340 | 0.0382 | -4 | c.3+5 others(17): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223832135 | CTGTG | C | intron_variant | MODIFIER | HG02451.hp1 HG03209.hp1 HG03831.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0047 | a0001c0001t0001g0282a0001c0001t0007g0170a0001c0001t0047g0322 | 3 | 340 | 0.0088 | -4 | c.3+5 others(17): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223833882 | TTTTA | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00423.hp1 others(113): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0001a0001c0001t0001g0110a0001c0001t0001g0119others(112): Show | 116 | 340 | 0.3412 | -4 | c.3+3 others(17): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223838221 | CATTT | C | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00609.hp1 HG01070.hp2 others(37): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0032a0001c0001t0001g0043a0001c0001t0001g0258others(37): Show | 40 | 340 | 0.1177 | -4 | c.-77 others(13): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 640 | chr2 | TogoVar | ||||||
AP2A1_chr19_49762001_49812114 | 49769264 | AAAAG | A | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp1 HG02486.hp1 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0209a0001c0001t0001g0210a0001c0001t0001g0212others(4): Show | 7 | 342 | 0.0205 | -4 | c.67+ others(19): Show |
AP2A1 | ENSG00000196961.13 | transcript | ENST00000354293.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AP2A1_chr19_49762001_49812114 | 49773785 | TCTAA | T | intron_variant | MODIFIER | HG00597.hp1 HG01099.hp1 HG02135.hp1 others(22): Show |
a0001a0002 | a0001c0001a0002c0008 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0005a0001c0001t0001g0017a0001c0001t0001g0197others(19): Show | 25 | 342 | 0.0731 | -4 | c.67+ others(19): Show |
AP2A1 | ENSG00000196961.13 | transcript | ENST00000354293.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AP2A2_chr11_920870_1017240 | 923629 | CATAA | C | upstream_gene_variant | MODIFIER | NA18964.hp2 NA18969.hp1 NA19082.hp1 others(1): Show |
a0001a0005 | a0001c0002a0005c0011 | a0001c0002t0002a0005c0011t0002 | a0001c0002t0002g0244a0001c0002t0002g0248a0001c0002t0002g0252others(1): Show | 4 | 268 | 0.0149 | -4 | c.-23 others(15): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2240 | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 933269 | AAAAC | A | intron_variant | MODIFIER | HG01109.hp2 HG01192.hp2 HG01243.hp1 others(17): Show |
a0001a0003 | a0001c0002a0001c0003a0001c0008others(1): Show | a0001c0002t0002a0001c0002t0004a0001c0003t0004others(2): Show | a0001c0002t0002g0226a0001c0002t0002g0233a0001c0002t0002g0234others(17): Show | 20 | 268 | 0.0746 | -4 | 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 | 937697 | AATTT | A | intron_variant | MODIFIER | HG02055.hp1 HG02818.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0003a0001c0002t0002g0004 | 2 | 268 | 0.0075 | -4 | c.67+ others(21): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AP2A2_chr11_920870_1017240 | 939951 | CTTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(111): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0007a0001c0001t0001g0010a0001c0001t0001g0011others(111): Show | 114 | 268 | 0.4254 | -4 | c.67+ others(21): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AP2A2_chr11_920870_1017240 | 969219 | CCTTT | C | intron_variant | MODIFIER | HG00423.hp1 HG00673.hp2 HG01255.hp2 others(14): Show |
a0001 | a0001c0001a0001c0006a0001c0012 | a0001c0001t0001a0001c0001t0003a0001c0001t0016others(2): Show | a0001c0001t0001g0010a0001c0001t0001g0014a0001c0001t0001g0027others(14): Show | 17 | 268 | 0.0634 | -4 | c.137 others(19): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 983369 | ATTAT | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(263): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0010others(263): Show | 266 | 268 | 0.9925 | -4 | c.706 others(21): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AP2B1_chr17_35582322_35731413 | 35583115 | CTTTT | C | upstream_gene_variant | MODIFIER | HG01168.hp1 HG01515.hp2 HG01952.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0007a0001c0001t0009others(1): Show | a0001c0001t0005g0135a0001c0001t0005g0138a0001c0001t0005g0139others(9): Show | 12 | 372 | 0.0323 | -4 | c.-43 others(15): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 4206 | chr17 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35583512 | TTTTC | T | upstream_gene_variant | MODIFIER | HG00558.hp1 HG02027.hp2 NA18981.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0025a0001c0001t0003g0036a0001c0001t0003g0037 | 3 | 372 | 0.0081 | -4 | c.-39 others(15): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 3809 | chr17 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35583514 | TTCTC | T | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00673.hp1 HG01168.hp1 others(36): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0007 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0002g0181a0001c0001t0003g0007a0001c0001t0003g0008others(36): Show | 39 | 372 | 0.1048 | -4 | c.-39 others(15): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 3807 | chr17 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35629529 | TATGA | T | intron_variant | MODIFIER | HG02257.hp2 HG02559.hp1 HG02572.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0292a0001c0002t0001g0293a0001c0002t0001g0294others(4): Show | 7 | 372 | 0.0188 | -4 | c.115 others(23): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AP2B1_chr17_35582322_35731413 | 35648524 | GCATA | G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00558.hp1 others(54): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0007 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0002g0002a0001c0001t0002g0170a0001c0001t0002g0171others(53): Show | 57 | 372 | 0.1532 | -4 | c.153 others(23): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AP2B1_chr17_35582322_35731413 | 35648743 | AGTGT | A | intron_variant | MODIFIER | HG01081.hp2 HG01243.hp2 HG01928.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0082a0001c0001t0002g0113a0001c0001t0002g0115 | 3 | 372 | 0.0081 | -4 | c.153 others(23): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AP2B1_chr17_35582322_35731413 | 35678959 | GTTGT | G | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00544.hp2 others(179): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0004a0001c0001t0009a0001c0001t0016others(9): Show | a0001c0001t0004g0160a0001c0001t0004g0318a0001c0001t0004g0320others(178): Show | 182 | 372 | 0.4893 | -4 | c.232 others(23): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AP2B1_chr17_35582322_35731413 | 35718312 | CTGTG | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(31): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0002g0002a0001c0001t0002g0118a0001c0001t0002g0170others(30): Show | 34 | 372 | 0.0914 | -4 | c.278 others(23): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AP2B1_chr17_35582322_35731413 | 35720545 | TTATA | T | intron_variant | MODIFIER | HG03041.hp1 HG03491.hp2 NA18969.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0193a0001c0002t0001g0229a0001c0002t0001g0232others(2): Show | 5 | 372 | 0.0134 | -4 | c.278 others(23): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AP2B1_chr17_35582322_35731413 | 35720573 | ATTTT | A | intron_variant | MODIFIER | HG01074.hp2 HG01123.hp2 HG01515.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0004a0001c0001t0008a0001c0003t0001others(1): Show | a0001c0001t0004g0343a0001c0001t0008g0059a0001c0003t0001g0204others(4): Show | 7 | 372 | 0.0188 | -4 | c.278 others(23): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AP2M1_chr3_184169855_184189091 | 184174585 | GAAAA | G | upstream_gene_variant | MODIFIER | HG00735.hp2 HG01192.hp1 HG01243.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0014a0001c0001t0001g0015others(1): Show | 8 | 422 | 0.0190 | -4 | c.-41 others(13): Show |
AP2M1 | ENSG00000161203.14 | transcript | ENST00000292807.9 | protein_coding | 269 | chr3 | TogoVar | ||||||
AP2S1_chr19_46833167_46855846 | 46845413 | GTAAT | G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(198): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0010others(145): Show | 201 | 424 | 0.4741 | -4 | c.153 others(19): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 2/4 | chr19 | TogoVar | ||||||
AP2S1_chr19_46833167_46855846 | 46855738 | AAGAG | A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(207): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0010others(155): Show | 210 | 424 | 0.4953 | -4 | c.-49 others(15): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 4893 | chr19 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78000601 | TAATA | T | downstream_gene_variant | MODIFIER | HG01258.hp1 HG01346.hp1 HG01928.hp2 others(26): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0010others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0004t0002others(2): Show | a0001c0001t0002g0012a0001c0001t0002g0014a0001c0001t0002g0015others(26): Show | 29 | 226 | 0.1283 | -4 | c.*22 others(15): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1724 | chr5 | TogoVar |