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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AOX1_chr2_200581014_200676495 | 200613025 | T | TGAGAGA | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG01099.hp2 others(34): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0020a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0020t0001others(5): Show | a0001c0001t0001g0104a0001c0001t0001g0221a0001c0001t0001g0224others(34): Show | 37 | 370 | 0.1000 | 6 | c.144 others(23): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 14/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AOX1_chr2_200581014_200676495 | 200613027 | T | TGAGAGA | intron_variant | MODIFIER | HG01106.hp2 HG01358.hp1 HG01496.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0273a0001c0001t0002g0278a0001c0001t0002g0279 | 3 | 370 | 0.0081 | 6 | c.144 others(23): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 14/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AOX1_chr2_200581014_200676495 | 200613027 | T | TGTGTGA | intron_variant | MODIFIER | HG01346.hp2 HG02015.hp1 NA19001.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0165 | 3 | 370 | 0.0081 | 6 | c.144 others(23): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 14/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AOX1_chr2_200581014_200676495 | 200621676 | T | TTCTCTC | intron_variant | MODIFIER | HG00639.hp2 HG01106.hp1 HG01123.hp1 others(44): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0008a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0008t0001others(6): Show | a0001c0001t0001g0003a0001c0001t0001g0014a0001c0001t0001g0018others(43): Show | 47 | 370 | 0.1270 | 6 | c.200 others(23): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 18/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AOX1_chr2_200581014_200676495 | 200659791 | C | CACACAT | intron_variant | MODIFIER | HG01515.hp1 HG01517.hp1 HG02109.hp2 others(4): Show |
a0003 | a0003c0003a0003c0030 | a0003c0003t0001a0003c0003t0004a0003c0030t0002 | a0003c0003t0001g0212a0003c0003t0001g0245a0003c0003t0001g0250others(4): Show | 7 | 370 | 0.0189 | 6 | c.330 others(23): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 28/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AOX1_chr2_200581014_200676495 | 200663572 | A | ACACACT | intron_variant | MODIFIER | HG02015.hp2 NA18965.hp2 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221a0001c0001t0001g0224a0001c0001t0001g0244 | 3 | 370 | 0.0081 | 6 | c.354 others(23): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 31/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AP1AR_chr4_112226787_112278110 | 112269093 | G | GATATAT | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00609.hp1 HG00735.hp2 others(24): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0005a0001c0001t0024a0001c0001t0027others(1): Show | a0001c0001t0005g0003a0001c0001t0005g0043a0001c0001t0005g0045others(11): Show | 27 | 398 | 0.0678 | 6 | c.*69 others(15): Show |
AP1AR | ENSG00000138660.12 | transcript | ENST00000274000.10 | protein_coding | 10/10 | 703 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||
AP1B1_chr22_29322680_29393570 | 29366833 | G | GACACAC | intron_variant | MODIFIER | HG02622.hp1 HG03017.hp2 HG03209.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0001a0001c0002t0001a0001c0010t0003 | a0001c0001t0001g0186a0001c0002t0001g0242a0001c0002t0001g0258others(2): Show | 5 | 378 | 0.0132 | 6 | c.37+ others(19): Show |
AP1B1 | ENSG00000100280.17 | transcript | ENST00000357586.7 | protein_coding | 2/22 | chr22 | TogoVar | ||||||
AP1G1_chr16_71724000_71813834 | 71794835 | C | CTTTTTT | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG01071.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0009a0002c0002t0001a0002c0002t0004others(4): Show | a0001c0001t0009g0085a0002c0002t0001g0048a0002c0002t0001g0126others(11): Show | 14 | 320 | 0.0438 | 6 | c.-3- others(21): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 1/22 | chr16 | TogoVar | ||||||
AP1M1_chr19_16192911_16250906 | 16215191 | A | AGGCAGG | intron_variant | MODIFIER | HG01074.hp1 HG01074.hp2 HG01192.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0123a0001c0001t0146a0001c0002t0002others(7): Show | a0001c0001t0123g0259a0001c0001t0146g0255a0001c0002t0002g0135others(9): Show | 12 | 308 | 0.0390 | 6 | c.546 others(23): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AP1M1_chr19_16192911_16250906 | 16244882 | T | TTTGTTG | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00438.hp2 others(35): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0001t0008a0001c0001t0031others(21): Show | a0001c0001t0004g0226a0001c0001t0004g0229a0001c0001t0004g0237others(35): Show | 38 | 308 | 0.1234 | 6 | c.*10 others(19): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 12/12 | 10481 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
AP1M1_chr19_16192911_16250906 | 16244882 | T | TTTTTTG | 3_prime_UTR_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00558.hp2 others(60): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0014a0001c0001t0018others(21): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(55): Show | 63 | 308 | 0.2046 | 6 | c.*10 others(19): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 12/12 | 10450 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
AP1M1_chr19_16192911_16250906 | 16250292 | A | ATGTGTG | downstream_gene_variant | MODIFIER | HG01071.hp1 HG01074.hp1 HG01167.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0024others(17): Show | a0001c0001t0001g0043a0001c0001t0003g0213a0001c0001t0024g0289others(17): Show | 20 | 308 | 0.0649 | 6 | c.*15 others(19): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 4387 | chr19 | TogoVar | ||||||
AP1M2_chr19_10567671_10592312 | 10570547 | C | CAAAAAA | downstream_gene_variant | MODIFIER | NA18942.hp2 NA18947.hp1 NA18948.hp2 others(16): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0027a0001c0001t0001g0222a0001c0001t0001g0223others(12): Show | 19 | 394 | 0.0482 | 6 | c.*25 others(17): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 2123 | chr19 | TogoVar | ||||||
AP1M2_chr19_10567671_10592312 | 10571167 | C | CTTTTTT | downstream_gene_variant | MODIFIER | HG00673.hp2 HG01433.hp1 HG02083.hp2 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003 | a0001c0002t0002g0110a0001c0002t0002g0175a0001c0002t0002g0177others(9): Show | 12 | 394 | 0.0305 | 6 | c.*18 others(17): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 1503 | chr19 | TogoVar | ||||||
AP1S1_chr7_101149476_101166276 | 101160959 | T | TACCTCC | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(192): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(43): Show | 195 | 432 | 0.4514 | 6 | c.*39 others(15): Show |
AP1S1 | ENSG00000106367.15 | transcript | ENST00000337619.11 | protein_coding | 5/5 | 403 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||
AP1S2_chrX_15820806_15859813 | 15823107 | C | CAGCCGG | downstream_gene_variant | MODIFIER | HG02258.hp1 HG02647.hp1 HG02886.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0191a0001c0001t0002g0026a0001c0001t0002g0119others(3): Show | 7 | 318 | 0.0220 | 6 | c.*42 others(17): Show |
AP1S2 | ENSG00000182287.15 | transcript | ENST00000672987.1 | protein_coding | 2698 | chrX | TogoVar | ||||||
AP1S2_chrX_15820806_15859813 | 15824078 | T | TTTCCAA | downstream_gene_variant | MODIFIER | NA18997.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0078 | 1 | 318 | 0.0031 | 6 | c.*32 others(17): Show |
AP1S2 | ENSG00000182287.15 | transcript | ENST00000672987.1 | protein_coding | 1727 | chrX | TogoVar | ||||||
AP1S2_chrX_15820806_15859813 | 15834439 | A | AATATAT | intron_variant | MODIFIER | HG02622.hp1 HG03486.hp1 NA18944.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(1): Show | a0001c0001t0002g0042a0001c0001t0002g0077a0001c0001t0002g0083others(6): Show | 9 | 318 | 0.0283 | 6 | c.427 others(23): Show |
AP1S2 | ENSG00000182287.15 | transcript | ENST00000672987.1 | protein_coding | 4/5 | chrX | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223765159 | C | CCATCAT | intron_variant | MODIFIER | HG00140.hp1 HG00609.hp1 HG00639.hp2 others(98): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0012a0001c0001t0013others(15): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0032others(97): Show | 101 | 340 | 0.2971 | 6 | c.429 others(19): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 4/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223770497 | T | TACACAC | intron_variant | MODIFIER | HG01168.hp1 HG01261.hp1 HG01433.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0144a0001c0001t0001g0160others(18): Show | 22 | 340 | 0.0647 | 6 | c.292 others(23): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 3/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223770727 | A | ATTTTTT | intron_variant | MODIFIER | HG01433.hp1 HG01496.hp1 HG02027.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0028others(5): Show | a0001c0001t0002g0008a0001c0001t0002g0098a0001c0001t0003g0013others(8): Show | 11 | 340 | 0.0324 | 6 | c.291 others(23): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 3/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223780276 | A | AATATAT | intron_variant | MODIFIER | HG01070.hp1 HG01192.hp1 HG01981.hp1 others(7): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0121a0001c0001t0002g0196a0001c0001t0002g0234others(7): Show | 10 | 340 | 0.0294 | 6 | c.4-2 others(19): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223780353 | A | AGTGTGT | intron_variant | MODIFIER | HG00423.hp1 HG02258.hp2 HG04184.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0031others(1): Show | a0001c0001t0003g0224a0001c0001t0005g0211a0001c0001t0031g0246others(1): Show | 4 | 340 | 0.0118 | 6 | c.4-2 others(19): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223780355 | A | AGTGTGT | intron_variant | MODIFIER | HG02523.hp2 NA18995.hp1 NA19087.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0016 | a0001c0001t0005g0088a0001c0001t0005g0333a0001c0001t0016g0288 | 3 | 340 | 0.0088 | 6 | c.4-2 others(19): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223799208 | G | GACACAC | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00544.hp1 others(55): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0002a0001c0001t0001g0057a0001c0001t0001g0162others(55): Show | 58 | 340 | 0.1706 | 6 | c.4-2 others(21): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223807867 | C | CTTTTTT | intron_variant | MODIFIER | HG00544.hp2 HG00609.hp2 HG01433.hp1 others(24): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0032a0001c0001t0002g0007a0001c0001t0002g0310others(24): Show | 27 | 340 | 0.0794 | 6 | c.3+2 others(21): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223817607 | C | CAAAAAA | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(96): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0043a0001c0001t0001g0046a0001c0001t0001g0050others(96): Show | 99 | 340 | 0.2912 | 6 | c.3+1 others(21): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223819985 | A | ATCAGTG | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00639.hp2 others(72): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(24): Show | a0001c0001t0001g0001a0001c0001t0001g0110a0001c0001t0001g0119others(71): Show | 75 | 340 | 0.2206 | 6 | c.3+1 others(21): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223832135 | C | CTGTGTG | intron_variant | MODIFIER | HG01884.hp1 HG02071.hp2 HG02258.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0192a0001c0001t0001g0193a0001c0001t0002g0232others(9): Show | 12 | 340 | 0.0353 | 6 | c.3+5 others(19): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP2A1_chr19_49762001_49812114 | 49808544 | A | ACCCCTG | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00738.hp1 HG00741.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065a0001c0001t0001g0070a0001c0001t0001g0071others(9): Show | 12 | 342 | 0.0351 | 6 | c.*17 others(17): Show |
AP2A1 | ENSG00000196961.13 | transcript | ENST00000354293.10 | protein_coding | 1431 | chr19 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35583514 | T | TTCTCTC | upstream_gene_variant | MODIFIER | HG02135.hp2 HG02257.hp2 HG02922.hp1 others(8): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0189a0001c0002t0001g0202a0001c0002t0001g0212others(8): Show | 11 | 372 | 0.0296 | 6 | c.-39 others(17): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 3807 | chr17 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35583514 | T | TTTTCTC | upstream_gene_variant | MODIFIER | HG03710.hp2 NA18942.hp2 NA18944.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0011 | a0001c0002t0001g0193a0001c0002t0001g0225a0001c0002t0001g0257others(1): Show | 4 | 372 | 0.0108 | 6 | c.-39 others(17): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 3807 | chr17 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35594594 | A | AAAAAGC | intron_variant | MODIFIER | HG00673.hp2 HG02027.hp1 HG02135.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0320a0001c0001t0004g0321a0001c0001t0004g0322others(1): Show | 4 | 372 | 0.0108 | 6 | c.37+ others(19): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AP2B1_chr17_35582322_35731413 | 35648743 | A | AGTGTGT | intron_variant | MODIFIER | HG01981.hp1 HG01993.hp2 HG02040.hp1 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0004a0001c0001t0009a0001c0002t0001others(3): Show | a0001c0001t0004g0343a0001c0001t0009g0161a0001c0001t0009g0162others(28): Show | 31 | 372 | 0.0833 | 6 | c.153 others(25): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AP2B1_chr17_35582322_35731413 | 35707134 | C | CTTGTTG | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG00597.hp1 others(132): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0002t0001a0001c0002t0002others(6): Show | a0001c0001t0003g0019a0001c0002t0001g0003a0001c0002t0001g0060others(131): Show | 135 | 372 | 0.3629 | 6 | c.245 others(25): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AP2B1_chr17_35582322_35731413 | 35720573 | A | ATATATT | intron_variant | MODIFIER | HG02165.hp1 NA18946.hp1 NA18964.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0010a0001c0001t0003g0031a0001c0001t0003g0038others(3): Show | 6 | 372 | 0.0161 | 6 | c.278 others(25): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AP2S1_chr19_46833167_46855846 | 46855092 | C | CAAAAAA | upstream_gene_variant | MODIFIER | HG00735.hp2 HG01106.hp1 HG01192.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0050a0001c0001t0001g0054a0001c0001t0001g0223others(4): Show | 7 | 424 | 0.0165 | 6 | c.-43 others(17): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 4247 | chr19 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78018671 | A | AACACAC | intron_variant | MODIFIER | HG01168.hp1 HG01258.hp1 HG01884.hp1 others(11): Show |
a0001a0003 | a0001c0001a0001c0004a0001c0005others(2): Show | a0001c0001t0002a0001c0004t0002a0001c0005t0002others(2): Show | a0001c0001t0002g0022a0001c0001t0002g0118a0001c0001t0002g0119others(11): Show | 14 | 226 | 0.0620 | 6 | c.299 others(25): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 25/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78053697 | A | AAGAAAG | intron_variant | MODIFIER | HG02630.hp1 HG03130.hp2 NA18978.hp1 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(1): Show | a0001c0001t0001g0032a0001c0001t0002g0017a0001c0004t0001g0077others(2): Show | 5 | 226 | 0.0221 | 6 | c.257 others(27): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78068358 | A | AAGAAGG | intron_variant | MODIFIER | HG00280.hp2 HG00597.hp2 HG00735.hp1 others(80): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(80): Show | 83 | 226 | 0.3673 | 6 | c.257 others(27): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78110684 | C | CTGTGTG | intron_variant | MODIFIER | HG01258.hp1 HG01346.hp1 HG01884.hp2 others(9): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0008 | a0001c0001t0001a0001c0001t0002a0001c0004t0002others(1): Show | a0001c0001t0001g0013a0001c0001t0002g0093a0001c0001t0002g0094others(9): Show | 12 | 226 | 0.0531 | 6 | c.225 others(23): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 19/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78184686 | C | CAAAAAA | intron_variant | MODIFIER | HG00408.hp1 HG00642.hp2 HG01258.hp1 others(27): Show |
a0001a0002a0005 | a0001c0001a0001c0004a0001c0010others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0002g0012others(27): Show | 30 | 226 | 0.1327 | 6 | c.787 others(23): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78202552 | A | AGTGTGT | intron_variant | MODIFIER | HG01515.hp1 HG02015.hp1 HG02723.hp1 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0002a0002c0003a0003c0007others(1): Show | a0001c0002t0002a0002c0003t0001a0003c0007t0002others(1): Show | a0001c0002t0002g0155a0001c0002t0002g0174a0002c0003t0001g0045others(7): Show | 10 | 226 | 0.0443 | 6 | c.786 others(25): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78202556 | T | TGTGTGA | intron_variant | MODIFIER | HG01884.hp2 HG02615.hp2 HG03540.hp2 others(2): Show |
a0001a0003 | a0001c0004a0003c0008 | a0001c0004t0002a0003c0008t0002 | a0001c0004t0002g0001a0001c0004t0002g0003a0003c0008t0002g0035others(2): Show | 5 | 226 | 0.0221 | 6 | c.786 others(25): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78229570 | T | TAAAAAA | intron_variant | MODIFIER | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(25): Show |
a0001a0002a0005 | a0001c0001a0001c0010a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0010t0002others(2): Show | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0002g0011others(25): Show | 28 | 226 | 0.1239 | 6 | c.280 others(23): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | TogoVar | ||||||
AP3B2_chr15_82654281_82714875 | 82665376 | A | AACACAC | intron_variant | MODIFIER | HG00673.hp2 HG01109.hp1 HG02027.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167a0001c0001t0001g0168a0001c0001t0001g0182others(8): Show | 11 | 368 | 0.0299 | 6 | c.197 others(21): Show |
AP3B2 | ENSG00000103723.17 | transcript | ENST00000535359.6 | protein_coding | 16/26 | chr15 | TogoVar | ||||||
AP3B2_chr15_82654281_82714875 | 82682047 | C | CTTTTTT | intron_variant | MODIFIER | HG01496.hp1 HG01884.hp2 HG02257.hp1 others(11): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0005a0001c0005t0001 | a0001c0001t0001g0033a0001c0001t0001g0158a0001c0001t0001g0159others(11): Show | 14 | 368 | 0.0380 | 6 | c.361 others(21): Show |
AP3B2 | ENSG00000103723.17 | transcript | ENST00000535359.6 | protein_coding | 4/26 | chr15 | TogoVar | ||||||
AP3D1_chr19_2095988_2156566 | 2103473 | A | ACCAGAG | intron_variant | MODIFIER | HG00735.hp1 HG01515.hp2 HG01517.hp1 others(12): Show |
a0002 | a0002c0007a0002c0009 | a0002c0007t0004a0002c0009t0002 | a0002c0007t0004g0386a0002c0007t0004g0387a0002c0007t0004g0388others(12): Show | 15 | 406 | 0.0370 | 6 | c.355 others(25): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 31/31 | chr19 | TogoVar | ||||||
AP3S2_chr15_89825599_89898994 | 89858523 | G | GAAAGAA | intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG02040.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(3): Show | a0001c0001t0002g0057a0001c0001t0003g0090a0001c0001t0003g0091others(5): Show | 8 | 312 | 0.0256 | 6 | c.345 others(25): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar |