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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AP1B1_chr22_29322680_29393570 | 29369755 | A | AGCCTCAG others(3): Show |
intron_variant | MODIFIER | NA19006.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 376 | 0.0027 | 10 | c.-27 others(27): Show |
AP1B1 | ENSG00000100280.17 | transcript | ENST00000357586.7 | protein_coding | 1/22 | chr22 | TogoVar | |||||||
AP1B1_chr22_29322680_29393570 | 29370466 | A | AAAAAAGA others(3): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0101 | 1 | 361 | 0.0028 | 10 | c.-27 others(27): Show |
AP1B1 | ENSG00000100280.17 | transcript | ENST00000357586.7 | protein_coding | 1/22 | chr22 | TogoVar | |||||||
AP1G1_chr16_71724000_71813834 | 71736098 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01169.hp2 HG01192.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0012others(1): Show | a0001c0001t0002g0194 a0001c0001t0002g0233 a0001c0001t0002g0240 others(10): Show |
13 | 225 | 0.0578 | 10 | c.226 others(29): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 21/22 | chr16 | TogoVar | |||||||
AP1G1_chr16_71724000_71813834 | 71736117 | A | AAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0264 | 1 | 212 | 0.0047 | 10 | c.226 others(29): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 21/22 | chr16 | TogoVar | |||||||
AP1G1_chr16_71724000_71813834 | 71768500 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(213): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(31): Show | a0001c0001t0002g0044 a0001c0001t0002g0133 a0001c0001t0002g0194 others(212): Show |
216 | 248 | 0.8710 | 10 | c.642 others(27): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 6/22 | chr16 | TogoVar | |||||||
AP1G1_chr16_71724000_71813834 | 71768500 | C | CCAAAAAA others(3): Show |
intron_variant | MODIFIER | HG02602.hp1 HG02738.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0156 a0002c0002t0001g0157 |
2 | 34 | 0.0588 | 10 | c.642 others(27): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 6/22 | chr16 | TogoVar | |||||||
AP1G1_chr16_71724000_71813834 | 71768512 | A | AAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0164 | 1 | 318 | 0.0031 | 10 | c.642 others(27): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 6/22 | chr16 | TogoVar | |||||||
AP1G1_chr16_71724000_71813834 | 71794835 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02486.hp2 HG02818.hp2 others(5): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(2): Show | a0001c0001t0002g0133 a0001c0001t0005g0060 a0001c0001t0005g0118 others(5): Show |
8 | 64 | 0.1250 | 10 | c.-3- others(25): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 1/22 | chr16 | TogoVar | |||||||
AP1M1_chr19_16192911_16250906 | 16215194 | C | CAGGGGCG others(3): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01361.hp2 HG02015.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0008a0001c0001t0108others(3): Show | a0001c0001t0005g0231 a0001c0001t0005g0247 a0001c0001t0008g0252 others(4): Show |
7 | 252 | 0.0278 | 10 | c.546 others(27): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 5/11 | chr19 | TogoVar | |||||||
AP1M1_chr19_16192911_16250906 | 16215194 | C | CAGGGGGC others(3): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0002 | a0001c0002t0068 | a0001c0002t0068g0154 | 1 | 246 | 0.0041 | 10 | c.546 others(27): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 5/11 | chr19 | TogoVar | |||||||
AP1M1_chr19_16192911_16250906 | 16215496 | T | TGTTTAAT others(3): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0027 | 1 | 306 | 0.0033 | 10 | c.546 others(27): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
AP1M1_chr19_16192911_16250906 | 16216077 | T | TATGATTC others(3): Show |
intron_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0131 | 1 | 306 | 0.0033 | 10 | c.546 others(27): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
AP1M1_chr19_16192911_16250906 | 16244882 | T | TTTTTTTG others(3): Show |
3_prime_UTR_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0123 | a0001c0001t0123g0258 | 1 | 49 | 0.0204 | 10 | c.*10 others(23): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 12/12 | 10450 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AP1M1_chr19_16192911_16250906 | 16250272 | A | ATGTGTGT others(3): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0131 | a0001c0001t0131g0007 | 1 | 294 | 0.0034 | 10 | c.*15 others(23): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 4367 | chr19 | TogoVar | |||||||
AP1M1_chr19_16192911_16250906 | 16250292 | A | ATGTGTGT others(3): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01192.hp1 others(23): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0028a0001c0001t0036a0001c0001t0116others(17): Show | a0001c0001t0028g0197 a0001c0001t0036g0254 a0001c0001t0116g0263 others(23): Show |
26 | 115 | 0.2261 | 10 | c.*15 others(23): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 4387 | chr19 | TogoVar | |||||||
AP1M2_chr19_10567671_10592312 | 10570547 | C | CAAAAAAA others(3): Show |
downstream_gene_variant | MODIFIER | HG00621.hp1 HG01109.hp2 HG01346.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0285 others(18): Show |
23 | 31 | 0.7419 | 10 | c.*25 others(21): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 2123 | chr19 | TogoVar | |||||||
AP1M2_chr19_10567671_10592312 | 10577423 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02486.hp2 HG02647.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 others(2): Show |
5 | 16 | 0.3125 | 10 | c.889 others(23): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 8/11 | chr19 | TogoVar | |||||||
AP1M2_chr19_10567671_10592312 | 10585265 | A | AAAGAAAG others(3): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0314 | 1 | 354 | 0.0028 | 10 | c.43- others(25): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
AP1M2_chr19_10567671_10592312 | 10585276 | G | GAAAAGAA others(3): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0116 | 1 | 209 | 0.0048 | 10 | c.43- others(25): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
AP1M2_chr19_10567671_10592312 | 10585331 | G | GAAAGAAA others(3): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0316 | 1 | 391 | 0.0026 | 10 | c.43- others(25): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
AP1S2_chrX_15820806_15859813 | 15834439 | A | AATATATA others(3): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00735.hp1 HG00741.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0001 a0001c0001t0002g0063 a0001c0001t0002g0067 others(6): Show |
14 | 195 | 0.0718 | 10 | c.427 others(27): Show |
AP1S2 | ENSG00000182287.15 | transcript | ENST00000672987.1 | protein_coding | 4/5 | chrX | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223756470 | G | GAAAGAAA others(3): Show |
3_prime_UTR_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0005 | 1 | 337 | 0.0030 | 10 | c.*22 others(21): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 5/5 | 2244 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223770497 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00544.hp1 others(72): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0002 a0001c0001t0001g0055 a0001c0001t0001g0128 others(72): Show |
75 | 86 | 0.8721 | 10 | c.292 others(27): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 3/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223780276 | A | AATATATA others(3): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01891.hp1 HG03669.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0041 | a0001c0001t0001g0160 a0001c0001t0002g0066 a0001c0001t0041g0152 |
3 | 247 | 0.0121 | 10 | c.4-2 others(23): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223780308 | T | TATATAGA others(3): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0065 | a0001c0001t0065g0220 | 1 | 228 | 0.0044 | 10 | c.4-2 others(23): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223780351 | A | AGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0299 | 1 | 184 | 0.0054 | 10 | c.4-2 others(23): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223780355 | A | AGTGTGTG others(3): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0045 | 1 | 105 | 0.0095 | 10 | c.4-2 others(23): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223780357 | A | AGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG03540.hp1 NA18973.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0065 | a0001c0001t0002g0154 a0001c0001t0065g0220 |
2 | 77 | 0.0260 | 10 | c.4-2 others(23): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223799208 | G | GACACACA others(3): Show |
intron_variant | MODIFIER | HG02015.hp2 NA18747.hp2 NA18973.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0014a0001c0001t0053 | a0001c0001t0007g0235 a0001c0001t0014g0307 a0001c0001t0053g0172 |
3 | 37 | 0.0811 | 10 | c.4-2 others(25): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223832135 | C | CTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG00544.hp1 HG02258.hp1 HG03486.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 others(7): Show |
10 | 192 | 0.0521 | 10 | c.3+5 others(23): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP2A1_chr19_49762001_49812114 | 49772253 | T | TTTTTGTT others(3): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 340 | 0.0029 | 10 | c.67+ others(25): Show |
AP2A1 | ENSG00000196961.13 | transcript | ENST00000354293.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 925811 | T | TCGCGTGC others(3): Show |
upstream_gene_variant | MODIFIER | HG03654.hp1 HG03654.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0007a0001c0006t0001 | a0001c0001t0007g0089 a0001c0006t0001g0037 |
2 | 266 | 0.0075 | 10 | c.-21 others(19): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 58 | chr11 | TogoVar | |||||||
AP2A2_chr11_920870_1017240 | 935603 | G | GTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG02055.hp1 NA19240.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0002a0001c0004t0009 | a0001c0002t0002g0004 a0001c0004t0009g0260 |
2 | 3 | 0.6667 | 10 | c.67+ others(25): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 953618 | G | GCTCCGTC others(3): Show |
intron_variant | MODIFIER | HG04115.hp1 NA19066.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0002 | a0001c0002t0002g0239 a0001c0003t0002g0237 |
2 | 146 | 0.0137 | 10 | c.68- others(25): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35583514 | T | TTCTCTCT others(3): Show |
upstream_gene_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0209 | 1 | 68 | 0.0147 | 10 | c.-39 others(21): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 3807 | chr17 | TogoVar | |||||||
AP2B1_chr17_35582322_35731413 | 35583514 | T | TTTTCTCT others(3): Show |
upstream_gene_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0256 | 1 | 68 | 0.0147 | 10 | c.-39 others(21): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 3807 | chr17 | TogoVar | |||||||
AP2B1_chr17_35582322_35731413 | 35612878 | G | GCACACAC others(3): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0156 | 1 | 344 | 0.0029 | 10 | c.525 others(27): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35648743 | A | AGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00597.hp1 HG00735.hp2 others(19): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0011 | a0001c0002t0001g0192 a0001c0002t0001g0200 a0001c0002t0001g0222 others(19): Show |
22 | 49 | 0.4490 | 10 | c.153 others(29): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35720545 | T | TTATATAT others(3): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02647.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0116 a0001c0001t0002g0117 |
2 | 283 | 0.0071 | 10 | c.278 others(29): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35720573 | A | ATATATAT others(3): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0153 | 1 | 194 | 0.0052 | 10 | c.278 others(29): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35720573 | A | ATATATTT others(3): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0144 | 1 | 194 | 0.0052 | 10 | c.278 others(29): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AP2M1_chr3_184169855_184189091 | 184187217 | A | AGTTTTGT others(3): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 HG02258.hp2 HG02572.hp1 others(11): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0007 a0001c0002t0002g0033 |
14 | 413 | 0.0339 | 10 | c.*36 others(21): Show |
AP2M1 | ENSG00000161203.14 | transcript | ENST00000292807.9 | protein_coding | 3127 | chr3 | TogoVar | |||||||
AP2S1_chr19_46833167_46855846 | 46833427 | A | AAAGAGAA others(3): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 HG01106.hp1 HG01884.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0076 a0001c0001t0001g0261 a0001c0001t0001g0300 others(5): Show |
8 | 190 | 0.0421 | 10 | c.*50 others(21): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 4739 | chr19 | TogoVar | |||||||
AP2S1_chr19_46833167_46855846 | 46839286 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233 | 1 | 84 | 0.0119 | 10 | c.267 others(25): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 3/4 | chr19 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78023439 | C | CAAGAAAA others(3): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01168.hp1 HG01258.hp1 others(31): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0013 a0001c0001t0002g0012 a0001c0001t0002g0014 others(31): Show |
34 | 167 | 0.2036 | 10 | c.289 others(29): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78126504 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01884.hp2 HG02895.hp1 others(4): Show |
a0001a0003 | a0001c0004a0003c0007a0003c0008 | a0001c0004t0002a0003c0007t0002a0003c0008t0002 | a0001c0004t0002g0185 a0003c0007t0002g0052 a0003c0007t0002g0079 others(4): Show |
7 | 64 | 0.1094 | 10 | c.196 others(29): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78165926 | G | GGCATGGT others(3): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0135 | 1 | 224 | 0.0045 | 10 | c.116 others(27): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78184686 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0005 | 1 | 168 | 0.0060 | 10 | c.787 others(27): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78189869 | C | CAAATAAA others(3): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00558.hp2 HG01070.hp1 others(19): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(2): Show | a0001c0001t0001g0042 a0001c0001t0001g0106 a0001c0001t0001g0173 others(19): Show |
22 | 92 | 0.2391 | 10 | c.787 others(27): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78191354 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG03130.hp2 HG03453.hp1 |
a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0002 a0001c0004t0002g0226 |
2 | 98 | 0.0204 | 10 | c.787 others(27): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | TogoVar |