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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ANXA8_chr10_47462993_47489115 | 47488713 | A | ATTTTT | upstream_gene_variant | MODIFIER | HG01175.hp2 HG02896.hp1 HG02965.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0008others(2): Show | 7 | 412 | 0.0170 | 5 | c.-47 others(16): Show |
ANXA8 | ENSG00000265190.7 | transcript | ENST00000585281.6 | protein_coding | 4599 | chr10 | TogoVar | ||||||
AOAH_chr7_36507941_36729494 | 36523629 | G | GTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG01243.hp2 HG02129.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0012a0002c0002 | a0001c0001t0001a0001c0012t0006a0002c0002t0001others(1): Show | a0001c0001t0001g0020a0001c0001t0001g0037a0001c0001t0001g0039others(8): Show | 11 | 306 | 0.0360 | 5 | c.152 others(24): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 19/20 | chr7 | TogoVar | ||||||
AOAH_chr7_36507941_36729494 | 36543947 | C | CTTTCT | intron_variant | MODIFIER | HG02145.hp1 HG02257.hp1 HG02257.hp2 others(18): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0007others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0007t0001others(2): Show | a0001c0001t0001g0015a0001c0001t0001g0036a0001c0001t0001g0065others(18): Show | 21 | 306 | 0.0686 | 5 | c.113 others(24): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 15/20 | chr7 | TogoVar | ||||||
AOAH_chr7_36507941_36729494 | 36688782 | T | TTTAAG | intron_variant | MODIFIER | HG02451.hp1 HG02615.hp2 HG02922.hp1 others(3): Show |
a0001a0010 | a0001c0003a0010c0025 | a0001c0003t0001a0001c0003t0008a0010c0025t0010 | a0001c0003t0001g0251a0001c0003t0001g0253a0001c0003t0001g0254others(3): Show | 6 | 306 | 0.0196 | 5 | c.128 others(22): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 1/20 | chr7 | TogoVar | ||||||
AOC1_chr7_150847517_150866504 | 150859702 | C | CAAAAA | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00597.hp1 others(24): Show |
a0002a0004a0006others(1): Show | a0002c0001a0002c0009a0002c0016others(3): Show | a0002c0001t0001a0002c0009t0001a0002c0016t0001others(3): Show | a0002c0001t0001g0005a0002c0001t0001g0017a0002c0001t0001g0052others(10): Show | 27 | 420 | 0.0643 | 5 | c.185 others(22): Show |
AOC1 | ENSG00000002726.21 | transcript | ENST00000360937.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AOPEP_chr9_94721699_95092159 | 94784924 | A | ATATTT | intron_variant | MODIFIER | HG02717.hp1 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0067a0001c0001t0002g0066 | 2 | 182 | 0.0110 | 5 | c.965 others(22): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
AOPEP_chr9_94721699_95092159 | 94819946 | C | CTTTTT | intron_variant | MODIFIER | HG00438.hp1 HG00639.hp1 HG01255.hp2 others(33): Show |
a0001a0011 | a0001c0001a0001c0015a0011c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0053others(33): Show | 36 | 182 | 0.1978 | 5 | c.136 others(26): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
AOPEP_chr9_94721699_95092159 | 94821970 | A | ACACAC | intron_variant | MODIFIER | HG01109.hp2 HG01256.hp1 NA18966.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0084a0001c0001t0002g0049a0001c0001t0002g0077 | 3 | 182 | 0.0165 | 5 | c.136 others(26): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 5/16 | chr9 | TogoVar | ||||||
AOPEP_chr9_94721699_95092159 | 94850259 | T | TTTAAA | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(178): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0014a0001c0015others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0008a0001c0001t0001g0012a0001c0001t0001g0013others(178): Show | 181 | 182 | 0.9945 | 5 | c.136 others(26): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
AOPEP_chr9_94721699_95092159 | 94934315 | C | CTTTTT | intron_variant | MODIFIER | HG02572.hp2 HG02630.hp1 HG02723.hp2 others(14): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0007 | a0001c0001t0001a0001c0001t0004a0002c0002t0002others(2): Show | a0001c0001t0001g0067a0001c0001t0001g0120a0001c0001t0001g0152others(14): Show | 17 | 182 | 0.0934 | 5 | c.166 others(24): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
AOPEP_chr9_94721699_95092159 | 94961013 | C | CAAAAA | intron_variant | MODIFIER | HG02257.hp1 HG02572.hp1 HG02976.hp2 others(2): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0008a0005c0005others(1): Show | a0001c0001t0002a0002c0008t0002a0005c0005t0001others(1): Show | a0001c0001t0002g0040a0001c0001t0002g0169a0002c0008t0002g0135others(2): Show | 5 | 182 | 0.0275 | 5 | c.187 others(24): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
AOPEP_chr9_94721699_95092159 | 94962730 | C | CTTTTT | intron_variant | MODIFIER | HG01081.hp1 HG02258.hp1 HG03516.hp1 others(2): Show |
a0001a0003a0008 | a0001c0001a0003c0003a0008c0011 | a0001c0001t0001a0001c0001t0002a0003c0003t0001others(1): Show | a0001c0001t0001g0120a0001c0001t0002g0068a0003c0003t0001g0179others(2): Show | 5 | 182 | 0.0275 | 5 | c.187 others(24): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
AOPEP_chr9_94721699_95092159 | 94975483 | A | ACTAAC | intron_variant | MODIFIER | HG00408.hp1 HG00621.hp2 HG00741.hp2 others(20): Show |
a0001a0003a0012 | a0001c0001a0001c0014a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0014t0001others(2): Show | a0001c0001t0001g0013a0001c0001t0001g0053a0001c0001t0001g0065others(20): Show | 23 | 182 | 0.1264 | 5 | c.191 others(24): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
AOPEP_chr9_94721699_95092159 | 94982564 | A | AATTTT | intron_variant | MODIFIER | HG02145.hp1 HG03516.hp1 |
a0001 | a0001c0001a0001c0016 | a0001c0001t0001a0001c0016t0001 | a0001c0001t0001g0120a0001c0016t0001g0110 | 2 | 182 | 0.0110 | 5 | c.197 others(24): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 11/16 | chr9 | TogoVar | ||||||
AOPEP_chr9_94721699_95092159 | 95009295 | T | TATAAA | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(166): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0014a0001c0015others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0015others(166): Show | 169 | 182 | 0.9286 | 5 | 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 | 200601073 | C | CTTTTT | intron_variant | MODIFIER | HG00639.hp2 HG01167.hp2 HG01169.hp1 others(8): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0003c0003t0004 | a0001c0001t0001g0195a0001c0001t0001g0234a0001c0001t0001g0235others(8): Show | 11 | 370 | 0.0297 | 5 | c.437 others(22): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 5/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AOX1_chr2_200581014_200676495 | 200617666 | C | CCATTA | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00423.hp2 others(109): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0001c0014others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(11): Show | a0001c0001t0001g0005a0001c0001t0001g0012a0001c0001t0001g0020others(109): Show | 112 | 370 | 0.3027 | 5 | c.170 others(24): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 16/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AOX1_chr2_200581014_200676495 | 200657190 | A | ATTTTT | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00597.hp2 others(11): Show |
a0001a0004a0005 | a0001c0001a0004c0004a0005c0007 | a0001c0001t0001a0001c0001t0002a0004c0004t0001others(2): Show | a0001c0001t0001g0124a0001c0001t0001g0197a0001c0001t0001g0241others(11): Show | 14 | 370 | 0.0378 | 5 | c.317 others(22): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AOX1_chr2_200581014_200676495 | 200663596 | T | TCTCCC | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG01167.hp1 others(14): Show |
a0001a0005 | a0001c0001a0001c0019a0005c0007 | a0001c0001t0001a0001c0001t0002a0001c0019t0002others(1): Show | a0001c0001t0001g0238a0001c0001t0001g0357a0001c0001t0002g0130others(14): Show | 17 | 370 | 0.0460 | 5 | c.354 others(22): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 31/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AP1B1_chr22_29322680_29393570 | 29378136 | A | AGGGCC | intron_variant | MODIFIER | HG02809.hp2 HG03041.hp2 HG03130.hp2 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0002a0001c0004t0013 | a0001c0004t0002g0350a0001c0004t0002g0351a0001c0004t0002g0353others(2): Show | 5 | 378 | 0.0132 | 5 | c.-28 others(24): Show |
AP1B1 | ENSG00000100280.17 | transcript | ENST00000357586.7 | protein_coding | 1/22 | chr22 | TogoVar | ||||||
AP1G1_chr16_71724000_71813834 | 71757401 | A | AGGTCG | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(119): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0002g0044a0001c0001t0002g0194a0001c0001t0002g0198others(119): Show | 122 | 320 | 0.3813 | 5 | c.108 others(24): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 11/22 | chr16 | TogoVar | ||||||
AP1G1_chr16_71724000_71813834 | 71794835 | C | CTTTTT | intron_variant | MODIFIER | HG00642.hp2 HG00741.hp1 HG01071.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0009a0002c0002t0001a0002c0002t0006others(1): Show | a0001c0001t0009g0065a0001c0001t0009g0086a0002c0002t0001g0153others(10): Show | 13 | 320 | 0.0406 | 5 | c.-3- others(20): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 1/22 | chr16 | TogoVar | ||||||
AP1M2_chr19_10567671_10592312 | 10570547 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG01978.hp2 HG02040.hp2 HG02055.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0002a0001c0003t0001 | a0001c0001t0001g0209a0001c0001t0001g0216a0001c0001t0001g0219others(4): Show | 7 | 394 | 0.0178 | 5 | c.*25 others(16): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 2123 | chr19 | TogoVar | ||||||
AP1M2_chr19_10567671_10592312 | 10571167 | C | CTTTTT | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00597.hp1 others(91): Show |
a0001a0002 | a0001c0002a0001c0006a0002c0007 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(6): Show | a0001c0002t0001g0083a0001c0002t0001g0084a0001c0002t0001g0085others(81): Show | 94 | 394 | 0.2386 | 5 | c.*18 others(16): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 1503 | chr19 | TogoVar | ||||||
AP1S2_chrX_15820806_15859813 | 15834479 | T | TATATA | intron_variant | MODIFIER | HG01346.hp1 HG02523.hp2 HG02735.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0157a0001c0001t0001g0185a0001c0001t0001g0202others(1): Show | 4 | 318 | 0.0126 | 5 | c.427 others(22): Show |
AP1S2 | ENSG00000182287.15 | transcript | ENST00000672987.1 | protein_coding | 4/5 | chrX | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223756338 | G | GAAAGA | 3_prime_UTR_variant | MODIFIER | HG02055.hp1 HG02055.hp2 HG02630.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0012a0001c0001t0037 | a0001c0001t0009g0040a0001c0001t0009g0166a0001c0001t0009g0167others(10): Show | 13 | 340 | 0.0382 | 5 | c.*23 others(16): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 5/5 | 2376 | chr2 | TogoVar | |||||
AP1S3_chr2_223750326_223842582 | 223770727 | A | ATTTTT | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00544.hp1 others(103): Show |
a0001a0005 | a0001c0001a0001c0003a0005c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(17): Show | a0001c0001t0002g0004a0001c0001t0002g0006a0001c0001t0002g0007others(103): Show | 106 | 340 | 0.3118 | 5 | c.291 others(22): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 3/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223807867 | C | CTTTTT | intron_variant | MODIFIER | HG01255.hp2 HG02451.hp1 HG02630.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0257a0001c0001t0002g0309a0001c0001t0003g0018others(10): Show | 13 | 340 | 0.0382 | 5 | c.3+2 others(20): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223817607 | C | CAAAAA | intron_variant | MODIFIER | HG02451.hp2 HG02523.hp2 NA19030.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0002g0179a0001c0001t0003g0018a0001c0001t0005g0088others(3): Show | 6 | 340 | 0.0177 | 5 | c.3+1 others(20): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223826595 | A | AAACAT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(183): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0001a0001c0001t0001g0032a0001c0001t0001g0043others(182): Show | 186 | 340 | 0.5471 | 5 | c.3+1 others(20): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP2A1_chr19_49762001_49812114 | 49777076 | G | GAAAAA | intron_variant | MODIFIER | HG00621.hp2 HG04199.hp2 NA18955.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0064a0001c0001t0001g0189a0001c0001t0001g0191others(4): Show | 7 | 342 | 0.0205 | 5 | c.68- others(20): Show |
AP2A1 | ENSG00000196961.13 | transcript | ENST00000354293.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AP2A2_chr11_920870_1017240 | 935603 | G | GTTTTT | intron_variant | MODIFIER | HG00609.hp1 HG01516.hp2 HG02738.hp1 others(3): Show |
a0001 | a0001c0002a0001c0015 | a0001c0002t0002a0001c0002t0003a0001c0015t0003 | a0001c0002t0002g0132a0001c0002t0002g0155a0001c0002t0002g0156others(3): Show | 6 | 268 | 0.0224 | 5 | 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 | 974698 | A | AAAAAG | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(105): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0010others(105): Show | 108 | 268 | 0.4030 | 5 | c.474 others(22): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AP2B1_chr17_35582322_35731413 | 35614655 | T | TAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG00673.hp2 others(41): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0009a0001c0001t0016others(1): Show | a0001c0001t0004g0318a0001c0001t0004g0320a0001c0001t0004g0321others(41): Show | 44 | 372 | 0.1183 | 5 | c.525 others(22): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AP2B1_chr17_35582322_35731413 | 35720574 | T | TATATA | intron_variant | MODIFIER | HG00280.hp2 NA19001.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0117a0001c0001t0002g0173a0001c0001t0003g0026 | 3 | 372 | 0.0081 | 5 | c.278 others(24): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 21/21 | chr17 | TogoVar | ||||||
AP2S1_chr19_46833167_46855846 | 46833427 | A | AAAGAG | downstream_gene_variant | MODIFIER | HG00639.hp2 HG01175.hp1 HG01433.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0020a0001c0001t0002g0247a0001c0001t0002g0248others(4): Show | 9 | 424 | 0.0212 | 5 | c.*50 others(16): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 4739 | chr19 | TogoVar | ||||||
AP2S1_chr19_46833167_46855846 | 46855092 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG01516.hp1 HG02027.hp1 HG02135.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0019a0001c0001t0001g0055a0001c0001t0001g0056others(7): Show | 10 | 424 | 0.0236 | 5 | c.-43 others(16): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 4247 | chr19 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78010860 | T | TGTATA | intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG02055.hp1 others(12): Show |
a0001a0003 | a0001c0001a0003c0007a0003c0008others(1): Show | a0001c0001t0002a0003c0007t0002a0003c0008t0002others(1): Show | a0001c0001t0002g0048a0001c0001t0002g0050a0001c0001t0002g0051others(12): Show | 15 | 226 | 0.0664 | 5 | c.313 others(24): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78023439 | C | CAAGAA | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp2 HG00735.hp1 others(45): Show |
a0001a0004a0008 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0225a0001c0001t0002g0097a0001c0001t0002g0112others(45): Show | 48 | 226 | 0.2124 | 5 | c.289 others(24): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78053697 | A | AGAAAG | intron_variant | MODIFIER | HG00597.hp2 HG01258.hp1 HG01346.hp1 others(31): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0002g0012others(31): Show | 34 | 226 | 0.1504 | 5 | c.257 others(26): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78134149 | C | CAAAAA | intron_variant | MODIFIER | HG01168.hp1 HG02280.hp1 HG02451.hp1 others(8): Show |
a0001a0006 | a0001c0004a0001c0005a0006c0013 | a0001c0004t0001a0001c0004t0002a0001c0005t0001others(2): Show | a0001c0004t0001g0087a0001c0004t0002g0085a0001c0005t0001g0195others(8): Show | 11 | 226 | 0.0487 | 5 | c.165 others(24): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78189869 | C | CAAATA | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(28): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(6): Show | a0001c0001t0001g0083a0001c0001t0001g0108a0001c0001t0001g0127others(28): Show | 31 | 226 | 0.1372 | 5 | c.787 others(22): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78191354 | C | CAAAAA | intron_variant | MODIFIER | HG02055.hp2 HG02280.hp1 HG02630.hp2 others(3): Show |
a0001a0006 | a0001c0005a0006c0013 | a0001c0005t0002a0006c0013t0002 | a0001c0005t0002g0004a0001c0005t0002g0187a0001c0005t0002g0189others(3): Show | 6 | 226 | 0.0266 | 5 | c.787 others(22): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | TogoVar | ||||||
AP3B2_chr15_82654281_82714875 | 82682047 | C | CTTTTT | intron_variant | MODIFIER | HG01109.hp1 HG01109.hp2 HG01891.hp1 others(13): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0011t0005 | a0001c0001t0001g0160a0001c0001t0001g0162a0001c0001t0001g0167others(13): Show | 16 | 368 | 0.0435 | 5 | c.361 others(20): Show |
AP3B2 | ENSG00000103723.17 | transcript | ENST00000535359.6 | protein_coding | 4/26 | chr15 | TogoVar | ||||||
AP3B2_chr15_82654281_82714875 | 82709783 | G | GCCGGT | 5_prime_UTR_variant | MODIFIER | HG02083.hp2 NA18975.hp2 NA18979.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0013a0001c0001t0003g0014a0001c0001t0003g0015others(2): Show | 5 | 368 | 0.0136 | 5 | c.-82 others(12): Show |
AP3B2 | ENSG00000103723.17 | transcript | ENST00000535359.6 | protein_coding | 1/27 | 78 | chr15 | TogoVar | |||||
AP3M1_chr10_74115255_74155828 | 74119872 | T | TAAAGA | downstream_gene_variant | MODIFIER | HG01884.hp1 HG03041.hp2 HG03195.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0035a0001c0001t0003g0225a0001c0001t0003g0258 | 4 | 334 | 0.0120 | 5 | c.*39 others(16): Show |
AP3M1 | ENSG00000185009.13 | transcript | ENST00000355264.9 | protein_coding | 382 | chr10 | TogoVar | ||||||
AP3M1_chr10_74115255_74155828 | 74137239 | C | CAAACA | intron_variant | MODIFIER | HG01069.hp1 HG02145.hp1 HG02615.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0093a0001c0001t0008g0094a0001c0001t0008g0095others(4): Show | 7 | 334 | 0.0210 | 5 | c.274 others(20): Show |
AP3M1 | ENSG00000185009.13 | transcript | ENST00000355264.9 | protein_coding | 2/8 | chr10 | TogoVar | ||||||
AP3M1_chr10_74115255_74155828 | 74137474 | C | CAAGAG | intron_variant | MODIFIER | HG00423.hp2 HG00597.hp1 HG00673.hp2 others(55): Show |
a0001 | a0001c0001a0001c0005a0001c0007 | a0001c0001t0003a0001c0001t0006a0001c0001t0014others(4): Show | a0001c0001t0003g0008a0001c0001t0003g0011a0001c0001t0003g0012others(41): Show | 58 | 334 | 0.1737 | 5 | c.273 others(20): Show |
AP3M1 | ENSG00000185009.13 | transcript | ENST00000355264.9 | protein_coding | 2/8 | chr10 | TogoVar | ||||||
AP3M2_chr8_42148063_42176183 | 42150870 | G | GTTTTT | upstream_gene_variant | MODIFIER | HG00609.hp2 HG02074.hp1 NA18906.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0005a0001c0001t0002g0008a0001c0001t0002g0009others(7): Show | 14 | 392 | 0.0357 | 5 | c.-23 others(16): Show |
AP3M2 | ENSG00000070718.13 | transcript | ENST00000396926.8 | protein_coding | 2192 | chr8 | TogoVar | ||||||
AP3M2_chr8_42148063_42176183 | 42162943 | C | CAAAAA | intron_variant | MODIFIER | HG00735.hp1 HG00741.hp1 HG01074.hp2 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010a0001c0001t0013 | a0001c0001t0002g0007a0001c0001t0002g0012a0001c0001t0002g0024others(13): Show | 33 | 392 | 0.0842 | 5 | c.583 others(20): Show |
AP3M2 | ENSG00000070718.13 | transcript | ENST00000396926.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |