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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AP1M2_chr19_10567671_10592312 | 10570547 | C | CAAA | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00408.hp2 others(35): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0004 | a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0031 others(33): Show |
38 | 46 | 0.8261 | 3 | c.*25 others(14): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 2123 | chr19 | TogoVar | |||||||
AP1M2_chr19_10567671_10592312 | 10571167 | C | CTTT | downstream_gene_variant | MODIFIER | HG01934.hp2 HG02040.hp2 HG02258.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0008 a0001c0001t0001g0245 a0001c0001t0001g0247 others(6): Show |
9 | 88 | 0.1023 | 3 | c.*18 others(14): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 1503 | chr19 | TogoVar | |||||||
AP1M2_chr19_10567671_10592312 | 10573660 | C | CTTT | intron_variant | MODIFIER | HG00438.hp2 HG01952.hp2 HG02895.hp2 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0009a0001c0003t0001 | a0001c0001t0001g0093 a0001c0001t0001g0193 a0001c0001t0001g0202 others(7): Show |
10 | 164 | 0.0610 | 3 | c.125 others(20): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 11/11 | chr19 | TogoVar | |||||||
AP1M2_chr19_10567671_10592312 | 10577423 | C | CTTT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp2 others(61): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0019 a0001c0001t0001g0029 others(51): Show |
64 | 75 | 0.8533 | 3 | c.889 others(16): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 8/11 | chr19 | TogoVar | |||||||
AP1M2_chr19_10567671_10592312 | 10585265 | A | AAAG | intron_variant | MODIFIER | HG01081.hp1 HG01109.hp2 HG01167.hp1 others(35): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(1): Show | a0001c0002t0001g0086 a0001c0002t0001g0094 a0001c0002t0001g0095 others(24): Show |
38 | 391 | 0.0972 | 3 | c.43- others(18): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
AP1S1_chr7_101149476_101166276 | 101151166 | A | AAAT | upstream_gene_variant | MODIFIER | HG00642.hp1 HG00738.hp1 HG01884.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0010 a0001c0001t0001g0025 a0001c0001t0001g0050 others(1): Show |
11 | 391 | 0.0281 | 3 | c.-33 others(14): Show |
AP1S1 | ENSG00000106367.15 | transcript | ENST00000337619.11 | protein_coding | 3309 | chr7 | TogoVar | |||||||
AP1S2_chrX_15820806_15859813 | 15834479 | T | TATA | intron_variant | MODIFIER | HG00621.hp1 HG02293.hp2 HG03654.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0009 a0001c0001t0001g0028 a0001c0001t0001g0107 others(1): Show |
4 | 257 | 0.0156 | 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 | a0001c0001t0022a0001c0001t0028a0001c0001t0054others(3): Show | a0001c0001t0022g0280 a0001c0001t0022g0293 a0001c0001t0028g0126 others(5): Show |
8 | 42 | 0.1905 | 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 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(27): Show | a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0007 others(132): Show |
135 | 238 | 0.5672 | 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(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0052 a0001c0001t0001g0201 others(3): Show |
6 | 50 | 0.1200 | 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 | a0001c0001t0001a0001c0001t0014a0001c0001t0034 | a0001c0001t0001g0162 a0001c0001t0001g0257 a0001c0001t0001g0290 others(10): Show |
13 | 338 | 0.0385 | 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(112): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(21): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0014 others(111): Show |
115 | 159 | 0.7233 | 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 | a0001c0001t0001g0058 a0001c0001t0001g0082 a0001c0001t0001g0138 others(45): Show |
48 | 316 | 0.1519 | 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 | a0001c0001t0009g0166 a0001c0001t0009g0167 a0001c0001t0009g0168 others(2): Show |
5 | 338 | 0.0148 | 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 | a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0136 others(23): Show |
26 | 158 | 0.1646 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0120 a0001c0001t0001g0122 others(71): Show |
75 | 338 | 0.2219 | 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 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(4): Show | a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0109 others(10): Show |
13 | 159 | 0.0818 | 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 | a0001c0001t0001g0014 a0001c0001t0001g0218 a0001c0001t0001g0220 others(12): Show |
16 | 47 | 0.3404 | 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 | a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 others(3): Show |
6 | 269 | 0.0223 | 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 | a0001c0001t0001g0179 a0001c0001t0002g0024 a0001c0001t0002g0025 others(3): Show |
6 | 271 | 0.0221 | 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(29): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0008 a0001c0001t0001g0083 a0001c0001t0001g0088 others(28): Show |
32 | 160 | 0.2000 | 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 | a0001c0001t0001g0011 a0001c0001t0001g0087 a0001c0001t0001g0095 others(7): Show |
11 | 334 | 0.0329 | 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 | a0001c0001t0001g0005 a0001c0001t0001g0020 a0001c0001t0001g0021 others(9): Show |
12 | 159 | 0.0755 | 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 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 others(3): Show |
6 | 126 | 0.0476 | 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 | a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0129 others(5): Show |
8 | 198 | 0.0404 | 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 |
a0001a0002 | a0001c0002a0001c0008a0002c0007 | a0001c0002t0002a0001c0002t0004a0001c0008t0004others(1): Show | a0001c0002t0002g0225 a0001c0002t0002g0256 a0001c0002t0004g0222 others(12): Show |
15 | 249 | 0.0602 | 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 |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 others(134): Show |
137 | 266 | 0.5150 | 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 | a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 others(15): Show |
18 | 219 | 0.0822 | 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(321): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0002g0001 others(316): Show |
324 | 369 | 0.8780 | 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 | a0001c0001t0004g0326 a0001c0001t0004g0337 a0001c0001t0004g0345 others(5): Show |
8 | 35 | 0.2286 | 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 | a0001c0001t0005g0137 a0001c0002t0001g0005 a0001c0002t0001g0184 others(105): Show |
109 | 235 | 0.4638 | 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 | a0001c0001t0002g0066 a0001c0001t0002g0075 a0001c0001t0002g0078 others(56): Show |
59 | 81 | 0.7284 | 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 | a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0010 others(52): Show |
55 | 366 | 0.1503 | 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 | a0001c0001t0004g0158 a0001c0001t0004g0316 a0001c0001t0004g0318 others(184): Show |
188 | 314 | 0.5987 | 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 | a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0055 others(64): Show |
69 | 101 | 0.6832 | 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 | a0001c0001t0007g0346 a0001c0001t0007g0348 a0001c0002t0001g0191 others(3): Show |
6 | 73 | 0.0822 | 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 | a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0010 others(41): Show |
44 | 368 | 0.1196 | 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 | a0001c0001t0002g0004 a0001c0001t0002g0168 a0001c0001t0002g0169 others(7): Show |
11 | 370 | 0.0297 | 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 | a0001c0001t0002g0181 a0001c0001t0003g0008 a0001c0001t0003g0010 others(42): Show |
45 | 92 | 0.4891 | 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(27): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0020a0001c0001t0021others(1): Show | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0132 others(25): Show |
30 | 370 | 0.0811 | 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(21): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0045 a0001c0001t0001g0080 a0001c0003t0001g0006 others(5): Show |
24 | 199 | 0.1206 | 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 | a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0081 others(8): Show |
12 | 328 | 0.0366 | 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 | a0001c0001t0001g0047 a0001c0001t0001g0058 a0001c0001t0001g0081 others(32): Show |
36 | 224 | 0.1607 | 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 | a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0014 others(32): Show |
46 | 192 | 0.2396 | 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 | a0001c0001t0001g0006 a0001c0001t0001g0019 a0001c0001t0001g0040 others(16): Show |
20 | 127 | 0.1575 | 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 | a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0002g0154 others(7): Show |
10 | 136 | 0.0735 | 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 |
a0001a0003a0007 | a0001c0001a0001c0004a0001c0005others(5): Show | a0001c0001t0002a0001c0004t0001a0001c0004t0002others(7): Show | a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 others(26): Show |
29 | 186 | 0.1559 | 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 | a0001c0001t0001g0032 a0001c0001t0002g0025 a0001c0001t0002g0026 others(3): Show |
6 | 85 | 0.0706 | 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 |
a0001a0007 | a0001c0004a0001c0005a0007c0013 | a0001c0004t0001a0001c0004t0002a0001c0005t0002others(1): Show | a0001c0004t0001g0087 a0001c0004t0002g0085 a0001c0005t0002g0189 others(3): Show |
6 | 105 | 0.0571 | 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 | a0001c0001t0001g0013 a0001c0001t0001g0030 a0001c0001t0001g0032 others(29): Show |
32 | 202 | 0.1584 | 3 | c.147 others(22): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | TogoVar |