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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AOPEP_chr9_94721699_95092159 | 95011211 | ATTT | A | intron_variant | MODIFIER | HG02027.hp1 HG02818.hp2 HG02970.hp2 others(5): Show |
a0001a0003a0006 | a0001c0001a0001c0014a0003c0003others(1): Show | a0001c0001t0001a0001c0014t0001a0003c0003t0001others(1): Show | a0001c0001t0001g0115a0001c0001t0001g0118a0001c0014t0001g0011others(5): Show | 8 | 182 | 0.0440 | -3 | c.211 others(22): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
AOPEP_chr9_94721699_95092159 | 95035507 | ATTT | A | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(97): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0015a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0012a0001c0001t0001g0015a0001c0001t0001g0016others(97): Show | 100 | 182 | 0.5495 | -3 | c.211 others(24): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
AOPEP_chr9_94721699_95092159 | 95041380 | TGTG | T | intron_variant | MODIFIER | HG03654.hp2 HG04204.hp1 NA18969.hp1 others(5): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0005c0005t0001 | a0001c0001t0001g0056a0001c0001t0001g0115a0001c0001t0001g0118others(5): Show | 8 | 182 | 0.0440 | -3 | c.211 others(24): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
AOPEP_chr9_94721699_95092159 | 95044338 | CAAG | C | intron_variant | MODIFIER | HG02559.hp1 HG02723.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088a0001c0001t0001g0089 | 2 | 182 | 0.0110 | -3 | c.211 others(24): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
AOX1_chr2_200581014_200676495 | 200587112 | AACC | A | intron_variant | MODIFIER | HG02145.hp1 HG02258.hp1 HG02723.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0003a0003c0006 | a0001c0001t0002a0003c0003t0001a0003c0003t0004others(1): Show | a0001c0001t0002g0091a0003c0003t0001g0090a0003c0003t0001g0094others(3): Show | 6 | 370 | 0.0162 | -3 | c.45+ others(16): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AOX1_chr2_200581014_200676495 | 200589612 | TAGC | T | intron_variant | MODIFIER | HG01884.hp2 HG02145.hp1 HG02258.hp1 others(7): Show |
a0001a0003a0006 | a0001c0001a0001c0005a0003c0003others(2): Show | a0001c0001t0002a0001c0005t0002a0003c0003t0001others(4): Show | a0001c0001t0002g0091a0001c0005t0002g0217a0003c0003t0001g0090others(7): Show | 10 | 370 | 0.0270 | -3 | c.45+ others(18): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AOX1_chr2_200581014_200676495 | 200605510 | ATTT | A | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00597.hp2 others(74): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0001c0014others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0004others(10): Show | a0001c0001t0001g0117a0001c0001t0001g0165a0001c0001t0001g0283others(74): Show | 77 | 370 | 0.2081 | -3 | c.815 others(16): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 9/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AOX1_chr2_200581014_200676495 | 200630210 | TAAA | T | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp2 others(82): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0008a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0008t0001others(8): Show | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0023others(82): Show | 85 | 370 | 0.2297 | -3 | c.222 others(22): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AOX1_chr2_200581014_200676495 | 200634164 | ATTT | A | intron_variant | MODIFIER | HG02622.hp1 HG02970.hp2 HG03139.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0062a0001c0001t0001g0244a0001c0001t0001g0321others(3): Show | 6 | 370 | 0.0162 | -3 | c.222 others(20): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AOX1_chr2_200581014_200676495 | 200636117 | CTTT | C | intron_variant | MODIFIER | HG00280.hp1 HG01099.hp2 HG01261.hp1 others(9): Show |
a0001a0003a0014 | a0001c0001a0003c0003a0003c0018others(1): Show | a0001c0001t0001a0001c0001t0002a0003c0003t0001others(2): Show | a0001c0001t0001g0225a0001c0001t0001g0228a0001c0001t0001g0273others(9): Show | 12 | 370 | 0.0324 | -3 | c.234 others(20): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 21/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AP1AR_chr4_112226787_112278110 | 112227379 | GTTT | G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00544.hp2 others(86): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0007others(52): Show | 89 | 398 | 0.2236 | -3 | c.-47 others(14): Show |
AP1AR | ENSG00000138660.12 | transcript | ENST00000274000.10 | protein_coding | 4407 | chr4 | TogoVar | ||||||
AP1B1_chr22_29322680_29393570 | 29344514 | ATTT | A | intron_variant | MODIFIER | HG02717.hp1 HG02809.hp2 HG02970.hp1 others(5): Show |
a0001 | a0001c0004 | a0001c0004t0002a0001c0004t0013 | a0001c0004t0002g0020a0001c0004t0002g0023a0001c0004t0002g0024others(5): Show | 8 | 378 | 0.0212 | -3 | c.143 others(22): Show |
AP1B1 | ENSG00000100280.17 | transcript | ENST00000357586.7 | protein_coding | 11/22 | chr22 | TogoVar | ||||||
AP1B1_chr22_29322680_29393570 | 29375349 | CAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(183): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0010others(16): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(172): Show | 186 | 378 | 0.4921 | -3 | c.-27 others(20): Show |
AP1B1 | ENSG00000100280.17 | transcript | ENST00000357586.7 | protein_coding | 1/22 | chr22 | TogoVar | ||||||
AP1B1_chr22_29322680_29393570 | 29376873 | ACTC | A | intron_variant | MODIFIER | HG02109.hp1 HG02109.hp2 HG02886.hp2 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0021a0001c0003t0001g0029a0001c0003t0001g0030others(2): Show | 5 | 378 | 0.0132 | -3 | c.-27 others(20): Show |
AP1B1 | ENSG00000100280.17 | transcript | ENST00000357586.7 | protein_coding | 1/22 | chr22 | TogoVar | ||||||
AP1B1_chr22_29322680_29393570 | 29378552 | CAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp1 HG01074.hp1 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0002 | a0001c0001t0001g0027a0001c0001t0001g0028a0001c0001t0001g0037others(4): Show | 7 | 378 | 0.0185 | -3 | c.-28 others(20): Show |
AP1B1 | ENSG00000100280.17 | transcript | ENST00000357586.7 | protein_coding | 1/22 | chr22 | TogoVar | ||||||
AP1B1_chr22_29322680_29393570 | 29378860 | CAAA | C | intron_variant | MODIFIER | HG01099.hp2 HG01109.hp2 HG01243.hp1 others(11): Show |
a0001 | a0001c0003a0001c0010a0001c0017 | a0001c0003t0001a0001c0003t0003a0001c0010t0003others(1): Show | a0001c0003t0001g0092a0001c0003t0001g0093a0001c0003t0001g0094others(11): Show | 14 | 378 | 0.0370 | -3 | c.-28 others(20): Show |
AP1B1 | ENSG00000100280.17 | transcript | ENST00000357586.7 | protein_coding | 1/22 | chr22 | TogoVar | ||||||
AP1G1_chr16_71724000_71813834 | 71725716 | CCAA | C | downstream_gene_variant | MODIFIER | HG02055.hp2 HG02165.hp2 HG02451.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0092a0002c0002t0001g0107a0002c0002t0001g0108others(3): Show | 6 | 320 | 0.0188 | -3 | c.*73 others(14): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 3283 | chr16 | TogoVar | ||||||
AP1G1_chr16_71724000_71813834 | 71736118 | ATAT | A | intron_variant | MODIFIER | HG01515.hp1 HG02895.hp2 HG04204.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0015a0002c0002t0001 | a0001c0001t0015g0037a0001c0001t0015g0039a0002c0002t0001g0135others(2): Show | 5 | 320 | 0.0156 | -3 | c.226 others(22): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 21/22 | chr16 | TogoVar | ||||||
AP1G1_chr16_71724000_71813834 | 71768192 | TAAA | T | intron_variant | MODIFIER | HG00423.hp2 HG01071.hp2 HG01081.hp2 others(65): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0005others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(11): Show | a0001c0001t0002g0133a0001c0001t0004g0032a0001c0001t0005g0093others(65): Show | 68 | 320 | 0.2125 | -3 | c.642 others(20): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 6/22 | chr16 | TogoVar | ||||||
AP1G1_chr16_71724000_71813834 | 71768917 | CAAA | C | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp1 HG01169.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0027others(1): Show | a0001c0001t0002g0233a0001c0001t0002g0240a0001c0001t0002g0241others(5): Show | 8 | 320 | 0.0250 | -3 | c.642 others(18): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 6/22 | chr16 | TogoVar | ||||||
AP1G1_chr16_71724000_71813834 | 71785575 | CAAA | C | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp1 HG00741.hp1 others(21): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0006a0002c0002t0017others(3): Show | a0002c0002t0001g0092a0002c0002t0001g0107a0002c0002t0001g0108others(21): Show | 24 | 320 | 0.0750 | -3 | c.201 others(20): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 2/22 | chr16 | TogoVar | ||||||
AP1G1_chr16_71724000_71813834 | 71798145 | TATC | T | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG01361.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0020a0001c0001t0004g0021a0001c0001t0004g0022others(1): Show | 4 | 320 | 0.0125 | -3 | c.-3- others(18): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 1/22 | chr16 | TogoVar | ||||||
AP1G1_chr16_71724000_71813834 | 71799901 | AAAT | A | intron_variant | MODIFIER | HG00140.hp1 HG00609.hp2 HG00733.hp1 others(40): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0005a0001c0001t0007a0001c0001t0009others(6): Show | a0001c0001t0005g0050a0001c0001t0005g0051a0001c0001t0005g0052others(39): Show | 43 | 320 | 0.1344 | -3 | c.-4+ others(18): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 1/22 | chr16 | TogoVar | ||||||
AP1G2_chr14_23554567_23572791 | 23560778 | CAAA | C | intron_variant | MODIFIER | HG01106.hp2 HG01884.hp1 HG02109.hp1 others(24): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(3): Show | a0001c0001t0001g0011a0001c0001t0001g0016a0001c0001t0001g0038others(8): Show | 27 | 396 | 0.0682 | -3 | c.199 others(20): Show |
AP1G2 | ENSG00000213983.12 | transcript | ENST00000397120.8 | protein_coding | 19/21 | chr14 | TogoVar | ||||||
AP1G2_chr14_23554567_23572791 | 23569193 | CCTT | C | upstream_gene_variant | MODIFIER | HG01891.hp2 HG04184.hp2 NA18947.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035a0001c0001t0001g0086a0001c0001t0001g0087 | 4 | 396 | 0.0101 | -3 | c.-14 others(14): Show |
AP1G2 | ENSG00000213983.12 | transcript | ENST00000397120.8 | protein_coding | 1403 | chr14 | TogoVar | ||||||
AP1M1_chr19_16192911_16250906 | 16193187 | GTTA | G | upstream_gene_variant | MODIFIER | HG01099.hp2 HG03239.hp2 HG03710.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0089a0001c0001t0097others(1): Show | a0001c0001t0003g0183a0001c0001t0089g0184a0001c0001t0097g0007others(1): Show | 4 | 308 | 0.0130 | -3 | c.-48 others(14): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 4723 | chr19 | TogoVar | ||||||
AP1M1_chr19_16192911_16250906 | 16195630 | AAAG | A | upstream_gene_variant | MODIFIER | HG01361.hp1 HG02145.hp1 HG02615.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0009a0001c0001t0160others(3): Show | a0001c0001t0006g0001a0001c0001t0006g0024a0001c0001t0006g0025others(9): Show | 15 | 308 | 0.0487 | -3 | c.-23 others(14): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 2280 | chr19 | TogoVar | ||||||
AP1M1_chr19_16192911_16250906 | 16236101 | TATC | T | 3_prime_UTR_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00558.hp2 others(77): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(29): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(69): Show | 80 | 308 | 0.2597 | -3 | c.*16 others(14): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 12/12 | 1668 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
AP1M2_chr19_10567671_10592312 | 10568391 | GAGA | G | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(189): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0011others(4): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(170): Show | 192 | 394 | 0.4873 | -3 | c.*46 others(14): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 4279 | chr19 | TogoVar | ||||||
AP1S1_chr7_101149476_101166276 | 101151797 | CTTT | C | upstream_gene_variant | MODIFIER | HG00642.hp1 HG01884.hp2 HG02922.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0010a0001c0001t0002g0001a0001c0001t0003g0003others(1): Show | 9 | 432 | 0.0208 | -3 | c.-27 others(14): Show |
AP1S1 | ENSG00000106367.15 | transcript | ENST00000337619.11 | protein_coding | 2678 | chr7 | TogoVar | ||||||
AP1S2_chrX_15820806_15859813 | 15834438 | AAAT | A | intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0101 | 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 | 15834474 | ATAT | A | intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0050 | 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 | 15834476 | ATAT | A | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG02056.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0037a0001c0001t0001g0058a0001c0001t0001g0137others(6): Show | 20 | 318 | 0.0629 | -3 | c.427 others(20): Show |
AP1S2 | ENSG00000182287.15 | transcript | ENST00000672987.1 | protein_coding | 4/5 | chrX | TogoVar | ||||||
AP1S2_chrX_15820806_15859813 | 15834650 | ATTT | A | intron_variant | MODIFIER | HG02258.hp1 HG02647.hp1 HG02886.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0026a0001c0001t0002g0119a0001c0001t0002g0120others(1): Show | 5 | 318 | 0.0157 | -3 | c.427 others(20): Show |
AP1S2 | ENSG00000182287.15 | transcript | ENST00000672987.1 | protein_coding | 4/5 | chrX | TogoVar | ||||||
AP1S2_chrX_15820806_15859813 | 15849804 | CCTT | C | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00544.hp1 others(47): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0009a0001c0001t0001g0020a0001c0001t0001g0035others(38): Show | 50 | 318 | 0.1572 | -3 | c.179 others(20): Show |
AP1S2 | ENSG00000182287.15 | transcript | ENST00000672987.1 | protein_coding | 2/5 | chrX | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223750553 | CTTG | C | downstream_gene_variant | MODIFIER | HG00438.hp1 HG01175.hp2 HG01361.hp2 others(30): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0005a0001c0001t0007a0001c0001t0021others(4): Show | a0001c0001t0005g0064a0001c0001t0005g0067a0001c0001t0005g0083others(30): Show | 33 | 340 | 0.0971 | -3 | c.*81 others(14): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 4772 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223752782 | TTTC | T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(143): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(37): Show | a0001c0001t0002g0004a0001c0001t0002g0006a0001c0001t0002g0008others(143): Show | 146 | 340 | 0.4294 | -3 | c.*59 others(14): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 2543 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223762268 | ATTT | A | intron_variant | MODIFIER | HG00438.hp1 HG01175.hp2 HG01981.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007a0001c0001t0029 | a0001c0001t0005g0064a0001c0001t0005g0067a0001c0001t0005g0083others(10): Show | 13 | 340 | 0.0382 | -3 | c.429 others(20): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 4/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223769736 | ATTT | A | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00609.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0009others(6): Show | a0001c0001t0002g0004a0001c0001t0006g0026a0001c0001t0006g0072others(23): Show | 26 | 340 | 0.0765 | -3 | c.292 others(20): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 3/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223773735 | CAAG | C | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00423.hp2 others(252): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0032others(251): Show | 255 | 340 | 0.7500 | -3 | c.291 others(20): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 3/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223816340 | GAAA | G | 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+2 others(18): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223828058 | TAAA | T | intron_variant | MODIFIER | HG00639.hp1 HG01884.hp1 HG02055.hp2 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0191a0001c0001t0001g0192a0001c0001t0001g0193others(32): Show | 35 | 340 | 0.1029 | -3 | c.3+9 others(16): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP2A1_chr19_49762001_49812114 | 49762819 | TCTC | T | upstream_gene_variant | MODIFIER | HG02735.hp2 HG03017.hp2 HG03669.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061a0001c0001t0001g0237a0001c0001t0001g0274others(1): Show | 4 | 342 | 0.0117 | -3 | c.-43 others(14): Show |
AP2A1 | ENSG00000196961.13 | transcript | ENST00000354293.10 | protein_coding | 4181 | chr19 | TogoVar | ||||||
AP2A1_chr19_49762001_49812114 | 49780933 | TGGA | T | intron_variant | MODIFIER | HG01169.hp2 HG01192.hp1 HG01256.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0011 | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(1): Show | a0001c0001t0001g0065a0001c0001t0001g0071a0001c0001t0001g0272others(5): Show | 8 | 342 | 0.0234 | -3 | c.68- others(16): Show |
AP2A1 | ENSG00000196961.13 | transcript | ENST00000354293.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AP2A1_chr19_49762001_49812114 | 49797851 | CAGA | C | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00639.hp2 others(27): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0018a0001c0001t0001g0118a0001c0001t0001g0193others(27): Show | 30 | 342 | 0.0877 | -3 | c.815 others(18): Show |
AP2A1 | ENSG00000196961.13 | transcript | ENST00000354293.10 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AP2A1_chr19_49762001_49812114 | 49806358 | CCCT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(167): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(9): Show | a0001c0001t0001g0005a0001c0001t0001g0011a0001c0001t0001g0012others(160): Show | 170 | 342 | 0.4971 | -3 | c.279 others(20): Show |
AP2A1 | ENSG00000196961.13 | transcript | ENST00000354293.10 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AP2A1_chr19_49762001_49812114 | 49811746 | ACTC | A | downstream_gene_variant | MODIFIER | HG00597.hp1 HG01074.hp2 HG01099.hp1 others(21): Show |
a0001a0002 | a0001c0001a0002c0008 | a0001c0001t0001a0002c0008t0001 | a0001c0001t0001g0005a0001c0001t0001g0017a0001c0001t0001g0179others(18): Show | 24 | 342 | 0.0702 | -3 | c.*49 others(14): Show |
AP2A1 | ENSG00000196961.13 | transcript | ENST00000354293.10 | protein_coding | 4633 | chr19 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 930120 | CAAA | C | intron_variant | MODIFIER | HG01109.hp2 HG01192.hp2 HG01243.hp1 others(17): Show |
a0001a0003 | a0001c0002a0001c0003a0001c0008others(1): Show | a0001c0002t0002a0001c0002t0004a0001c0003t0004others(2): Show | a0001c0002t0002g0226a0001c0002t0002g0233a0001c0002t0002g0234others(17): Show | 20 | 268 | 0.0746 | -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 | 935603 | GTTT | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(111): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0010others(111): Show | 114 | 268 | 0.4254 | -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 | 961381 | TGGA | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(132): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0010others(132): Show | 135 | 268 | 0.5037 | -3 | c.136 others(20): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |