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 | 15829732 | T | TATC | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0190 | 1 | 318 | 0.0031 | 3 | c.427 others(20): Show |
AP1S2 | ENSG00000182287.15 | transcript | ENST00000672987.1 | protein_coding | 4/5 | chrX | TogoVar | ||||||
AP1S2_chrX_15820806_15859813 | 15834479 | T | TATA | intron_variant | MODIFIER | HG00621.hp1 HG02293.hp2 HG03654.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0140a0001c0001t0001g0149a0001c0001t0001g0158others(1): Show | 4 | 318 | 0.0126 | 3 | c.427 others(20): Show |
AP1S2 | ENSG00000182287.15 | transcript | ENST00000672987.1 | protein_coding | 4/5 | chrX | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223755529 | A | ATTT | 3_prime_UTR_variant | MODIFIER | HG00735.hp2 HG01192.hp1 HG01978.hp1 others(5): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0023a0001c0001t0029a0001c0001t0056others(3): Show | a0001c0001t0023g0280a0001c0001t0023g0293a0001c0001t0029g0123others(5): Show | 8 | 340 | 0.0235 | 3 | c.*31 others(14): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 5/5 | 3185 | chr2 | TogoVar | |||||
AP1S3_chr2_223750326_223842582 | 223765159 | C | CCAT | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00544.hp1 others(132): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(27): Show | a0001c0001t0002g0004a0001c0001t0002g0006a0001c0001t0002g0007others(132): Show | 135 | 340 | 0.3971 | 3 | c.429 others(16): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 4/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223769736 | A | ATTT | intron_variant | MODIFIER | NA18965.hp1 NA18995.hp2 NA18998.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032a0001c0001t0001g0050a0001c0001t0001g0202others(4): Show | 7 | 340 | 0.0206 | 3 | c.292 others(20): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 3/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223770726 | C | CTTT | intron_variant | MODIFIER | HG00735.hp1 HG00738.hp2 HG01074.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014a0001c0001t0036 | a0001c0001t0001g0162a0001c0001t0001g0257a0001c0001t0001g0290others(10): Show | 13 | 340 | 0.0382 | 3 | c.291 others(20): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 3/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223770727 | A | ATTT | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(113): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(21): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0032others(112): Show | 116 | 340 | 0.3412 | 3 | c.291 others(20): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 3/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223789674 | C | CAAA | intron_variant | MODIFIER | HG00423.hp1 HG00639.hp1 HG01106.hp2 others(45): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0058a0001c0001t0001g0070a0001c0001t0001g0144others(45): Show | 48 | 340 | 0.1412 | 3 | c.4-1 others(18): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223805175 | A | ACGC | intron_variant | MODIFIER | HG02257.hp1 HG02630.hp1 HG02818.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0009a0002c0002t0002 | a0001c0001t0009g0166a0001c0001t0009g0167a0001c0001t0009g0168others(2): Show | 5 | 340 | 0.0147 | 3 | c.4-2 others(18): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223807867 | C | CTTT | intron_variant | MODIFIER | HG01109.hp2 HG01168.hp1 HG01258.hp1 others(23): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0131a0001c0001t0001g0132a0001c0001t0001g0133others(23): Show | 26 | 340 | 0.0765 | 3 | c.3+2 others(18): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223819621 | C | CCTA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00639.hp2 others(72): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(24): Show | a0001c0001t0001g0001a0001c0001t0001g0110a0001c0001t0001g0119others(71): Show | 75 | 340 | 0.2206 | 3 | c.3+1 others(18): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223825312 | C | CAAA | intron_variant | MODIFIER | HG01109.hp2 HG01496.hp1 HG02109.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(5): Show | a0001c0001t0002g0097a0001c0001t0002g0098a0001c0001t0002g0109others(10): Show | 13 | 340 | 0.0382 | 3 | c.3+1 others(18): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP2A1_chr19_49762001_49812114 | 49765093 | C | CAAA | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02451.hp1 HG02622.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0013a0001c0001t0001g0220a0001c0001t0001g0222others(12): Show | 16 | 342 | 0.0468 | 3 | c.-20 others(14): Show |
AP2A1 | ENSG00000196961.13 | transcript | ENST00000354293.10 | protein_coding | 1907 | chr19 | TogoVar | ||||||
AP2A1_chr19_49762001_49812114 | 49777076 | G | GAAA | intron_variant | MODIFIER | HG01255.hp1 HG02451.hp1 HG02622.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0282a0001c0001t0001g0283a0001c0001t0001g0284others(3): Show | 6 | 342 | 0.0175 | 3 | c.68- others(18): Show |
AP2A1 | ENSG00000196961.13 | transcript | ENST00000354293.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AP2A1_chr19_49762001_49812114 | 49777634 | C | CAAA | intron_variant | MODIFIER | HG02055.hp1 HG03669.hp1 HG04115.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0181a0001c0001t0002g0020a0001c0001t0002g0021others(3): Show | 6 | 342 | 0.0175 | 3 | c.68- others(18): Show |
AP2A1 | ENSG00000196961.13 | transcript | ENST00000354293.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AP2A1_chr19_49762001_49812114 | 49779487 | C | CAAA | intron_variant | MODIFIER | HG00423.hp2 HG00621.hp1 HG00673.hp1 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0008a0001c0001t0001g0079a0001c0001t0001g0084others(29): Show | 33 | 342 | 0.0965 | 3 | c.68- others(18): Show |
AP2A1 | ENSG00000196961.13 | transcript | ENST00000354293.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AP2A1_chr19_49762001_49812114 | 49779511 | A | AAAC | intron_variant | MODIFIER | HG01109.hp1 HG01109.hp2 HG01346.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083a0001c0001t0001g0091a0001c0001t0001g0125others(8): Show | 11 | 342 | 0.0322 | 3 | c.68- others(18): Show |
AP2A1 | ENSG00000196961.13 | transcript | ENST00000354293.10 | protein_coding | 1/22 | chr19 | TogoVar | ||||||
AP2A1_chr19_49762001_49812114 | 49810678 | C | CAAA | downstream_gene_variant | MODIFIER | HG00597.hp1 HG02135.hp1 HG03927.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0008 | a0001c0001t0001a0001c0002t0001a0002c0008t0001 | a0001c0001t0001g0005a0001c0001t0001g0017a0001c0001t0001g0248others(9): Show | 12 | 342 | 0.0351 | 3 | c.*39 others(14): Show |
AP2A1 | ENSG00000196961.13 | transcript | ENST00000354293.10 | protein_coding | 3565 | chr19 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 935059 | A | ATTT | intron_variant | MODIFIER | NA18950.hp1 NA18964.hp1 NA18983.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024a0001c0001t0001g0025a0001c0001t0001g0026others(3): Show | 6 | 268 | 0.0224 | 3 | c.67+ others(18): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AP2A2_chr11_920870_1017240 | 936206 | C | CTTT | intron_variant | MODIFIER | HG01109.hp1 HG02129.hp2 HG02257.hp1 others(5): Show |
a0001 | a0001c0001a0001c0004a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0014a0001c0004t0010others(2): Show | a0001c0001t0001g0123a0001c0001t0001g0124a0001c0001t0001g0128others(5): Show | 8 | 268 | 0.0299 | 3 | c.67+ others(20): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AP2A2_chr11_920870_1017240 | 939247 | C | CAAA | intron_variant | MODIFIER | HG01109.hp2 HG01192.hp2 HG01243.hp1 others(12): Show |
a0001a0003 | a0001c0002a0001c0008a0003c0007 | a0001c0002t0002a0001c0002t0004a0001c0008t0004others(1): Show | a0001c0002t0002g0226a0001c0002t0002g0257a0001c0002t0004g0223others(12): Show | 15 | 268 | 0.0560 | 3 | c.67+ others(20): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AP2A2_chr11_920870_1017240 | 961268 | T | TGGA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(134): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0010others(134): Show | 137 | 268 | 0.5112 | 3 | c.136 others(20): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AP2B1_chr17_35582322_35731413 | 35589924 | C | CTTT | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02056.hp1 others(15): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(1): Show | a0001c0001t0002g0106a0001c0001t0002g0107a0001c0001t0002g0108others(15): Show | 18 | 372 | 0.0484 | 3 | c.-24 others(20): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AP2B1_chr17_35582322_35731413 | 35593449 | T | TAAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(322): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0002g0001others(319): Show | 325 | 372 | 0.8737 | 3 | c.-23 others(18): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AP2B1_chr17_35582322_35731413 | 35609348 | A | ATTT | intron_variant | MODIFIER | HG02074.hp1 HG02559.hp2 HG03486.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0001 | a0001c0001t0004g0328a0001c0001t0004g0339a0001c0001t0004g0347others(5): Show | 8 | 372 | 0.0215 | 3 | c.525 others(18): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AP2B1_chr17_35582322_35731413 | 35614655 | T | TAAA | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG00597.hp1 others(106): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0005a0001c0002t0001a0001c0002t0002others(6): Show | a0001c0001t0005g0135a0001c0002t0001g0003a0001c0002t0001g0186others(105): Show | 109 | 372 | 0.2930 | 3 | c.525 others(20): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AP2B1_chr17_35582322_35731413 | 35627245 | C | CTTT | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp2 HG00735.hp1 others(56): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(7): Show | a0001c0001t0002g0073a0001c0001t0002g0075a0001c0001t0002g0079others(56): Show | 59 | 372 | 0.1586 | 3 | c.939 others(18): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AP2B1_chr17_35582322_35731413 | 35640231 | T | TTTA | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp1 HG00673.hp1 others(52): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0003a0001c0001t0017a0001c0002t0001others(2): Show | a0001c0001t0003g0006a0001c0001t0003g0007a0001c0001t0003g0008others(52): Show | 55 | 372 | 0.1479 | 3 | c.143 others(20): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 11/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AP2B1_chr17_35582322_35731413 | 35640235 | T | TTTA | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00544.hp2 others(185): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0004a0001c0001t0007a0001c0001t0009others(10): Show | a0001c0001t0004g0160a0001c0001t0004g0318a0001c0001t0004g0320others(184): Show | 188 | 372 | 0.5054 | 3 | c.143 others(20): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 11/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AP2B1_chr17_35582322_35731413 | 35640239 | T | TTTA | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00597.hp2 others(66): Show |
a0001 | a0001c0001a0001c0005a0001c0008 | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(3): Show | a0001c0001t0002g0001a0001c0001t0002g0002a0001c0001t0002g0053others(64): Show | 69 | 372 | 0.1855 | 3 | c.143 others(20): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 11/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AP2B1_chr17_35582322_35731413 | 35665126 | C | CTTT | intron_variant | MODIFIER | HG00597.hp1 HG01168.hp2 HG01169.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0002t0001 | a0001c0001t0007g0348a0001c0001t0007g0350a0001c0002t0001g0193others(3): Show | 6 | 372 | 0.0161 | 3 | c.199 others(22): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AP2B1_chr17_35582322_35731413 | 35680693 | T | TTTG | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp1 HG00673.hp1 others(41): Show |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0003a0001c0001t0004a0001c0001t0017others(1): Show | a0001c0001t0003g0006a0001c0001t0003g0007a0001c0001t0003g0008others(41): Show | 44 | 372 | 0.1183 | 3 | c.232 others(22): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AP2B1_chr17_35582322_35731413 | 35682870 | A | AATT | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00639.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0002a0001c0001t0002g0170a0001c0001t0002g0171others(7): Show | 11 | 372 | 0.0296 | 3 | c.245 others(18): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AP2B1_chr17_35582322_35731413 | 35694411 | C | CTTT | intron_variant | MODIFIER | HG00558.hp1 HG00673.hp1 HG01070.hp1 others(42): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0183a0001c0001t0003g0006a0001c0001t0003g0008others(42): Show | 45 | 372 | 0.1210 | 3 | c.245 others(24): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AP2B1_chr17_35582322_35731413 | 35730514 | T | TCCC | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(28): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0020a0001c0001t0021others(1): Show | a0001c0001t0005g0130a0001c0001t0005g0131a0001c0001t0005g0132others(28): Show | 31 | 372 | 0.0833 | 3 | c.*68 others(14): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 4102 | chr17 | TogoVar | ||||||
AP2M1_chr3_184169855_184189091 | 184179662 | C | CTTT | intron_variant | MODIFIER | HG00099.hp2 HG01074.hp1 HG01074.hp2 others(22): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0045a0001c0001t0001g0080a0001c0003t0001g0006others(5): Show | 25 | 422 | 0.0592 | 3 | c.341 others(18): Show |
AP2M1 | ENSG00000161203.14 | transcript | ENST00000292807.9 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
AP2S1_chr19_46833167_46855846 | 46834002 | C | CAAA | downstream_gene_variant | MODIFIER | HG01106.hp1 HG01106.hp2 HG01175.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0014a0001c0001t0001g0016a0001c0001t0001g0081others(8): Show | 12 | 424 | 0.0283 | 3 | c.*44 others(14): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 4164 | chr19 | TogoVar | ||||||
AP2S1_chr19_46833167_46855846 | 46840367 | C | CAAA | intron_variant | MODIFIER | HG00621.hp2 HG00642.hp1 HG00733.hp1 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0047a0001c0001t0001g0058a0001c0001t0001g0081others(32): Show | 36 | 424 | 0.0849 | 3 | c.154 others(18): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 2/4 | chr19 | TogoVar | ||||||
AP2S1_chr19_46833167_46855846 | 46840720 | A | ATTT | intron_variant | MODIFIER | HG00609.hp2 HG00621.hp2 HG00733.hp1 others(43): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0008a0001c0001t0001g0010a0001c0001t0001g0014others(32): Show | 46 | 424 | 0.1085 | 3 | c.154 others(20): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 2/4 | chr19 | TogoVar | ||||||
AP2S1_chr19_46833167_46855846 | 46855092 | C | CAAA | upstream_gene_variant | MODIFIER | HG01891.hp2 HG01934.hp2 HG02080.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0006a0001c0001t0001g0019a0001c0001t0001g0040others(16): Show | 20 | 424 | 0.0472 | 3 | c.-43 others(14): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 4247 | chr19 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78024561 | A | ATTT | intron_variant | MODIFIER | HG00735.hp1 HG01175.hp1 HG01361.hp2 others(7): Show |
a0001a0004 | a0001c0002a0004c0017 | a0001c0002t0002a0004c0017t0002 | a0001c0002t0002g0130a0001c0002t0002g0131a0001c0002t0002g0156others(7): Show | 10 | 226 | 0.0443 | 3 | c.289 others(22): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78053693 | A | AAAG | intron_variant | MODIFIER | HG00642.hp2 HG01168.hp1 HG01884.hp1 others(26): Show |
a0001a0003a0006 | a0001c0001a0001c0004a0001c0005others(5): Show | a0001c0001t0002a0001c0004t0001a0001c0004t0002others(7): Show | a0001c0001t0002g0048a0001c0001t0002g0050a0001c0001t0002g0051others(26): Show | 29 | 226 | 0.1283 | 3 | c.257 others(24): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78080623 | A | ATTT | intron_variant | MODIFIER | HG01928.hp2 NA18972.hp1 NA18973.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0032a0001c0001t0002g0025a0001c0001t0002g0026others(3): Show | 6 | 226 | 0.0266 | 3 | c.257 others(22): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78084521 | C | CAAA | intron_variant | MODIFIER | HG02280.hp1 HG02630.hp2 HG02809.hp1 others(3): Show |
a0001a0006 | a0001c0004a0001c0005a0006c0013 | a0001c0004t0001a0001c0004t0002a0001c0005t0002others(1): Show | a0001c0004t0001g0087a0001c0004t0002g0085a0001c0005t0002g0189others(3): Show | 6 | 226 | 0.0266 | 3 | c.257 others(22): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78144829 | T | TTTG | intron_variant | MODIFIER | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(29): Show |
a0001a0002a0005 | a0001c0001a0001c0010a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(29): Show | 32 | 226 | 0.1416 | 3 | c.147 others(22): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78169733 | G | GTTA | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00597.hp2 others(75): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(75): Show | 78 | 226 | 0.3451 | 3 | c.116 others(22): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78243560 | A | ATAG | intron_variant | MODIFIER | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(29): Show |
a0001a0002a0005 | a0001c0001a0001c0010a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(29): Show | 32 | 226 | 0.1416 | 3 | c.205 others(20): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78255156 | T | TAGA | intron_variant | MODIFIER | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(2): Show |
a0001a0003 | a0001c0004a0003c0008 | a0001c0004t0002a0003c0008t0002 | a0001c0004t0002g0006a0003c0008t0002g0035a0003c0008t0002g0036others(2): Show | 5 | 226 | 0.0221 | 3 | c.204 others(22): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78261756 | G | GGTT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(133): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0004others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(16): Show | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(133): Show | 136 | 226 | 0.6018 | 3 | c.204 others(20): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78278598 | C | CAAA | intron_variant | MODIFIER | HG01168.hp1 HG02280.hp1 HG02630.hp2 others(5): Show |
a0001 | a0001c0004a0001c0005 | a0001c0004t0002a0001c0005t0001a0001c0005t0002 | a0001c0004t0002g0186a0001c0005t0001g0195a0001c0005t0002g0187others(5): Show | 8 | 226 | 0.0354 | 3 | c.129 others(22): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | TogoVar |