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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABHD16A_chr6_31681955_31708324 | 31682781 | C | CAA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00738.hp2 HG01069.hp1 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0035a0001c0001t0002g0003others(12): Show | 25 | 417 | 0.0600 | 2 | c.*44 others(13): Show |
ABHD16A | ENSG00000204427.12 | transcript | ENST00000395952.8 | protein_coding | 4173 | chr6 | TogoVar | ||||||
ABHD16A_chr6_31681955_31708324 | 31698509 | C | CAG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(401): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0010others(155): Show | 404 | 417 | 0.9688 | 2 | c.344 others(19): Show |
ABHD16A | ENSG00000204427.12 | transcript | ENST00000395952.8 | protein_coding | 4/19 | chr6 | TogoVar | ||||||
ABHD16A_chr6_31681955_31708324 | 31699408 | C | CAA | intron_variant | MODIFIER | HG01361.hp2 HG01891.hp2 HG02148.hp1 others(28): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0002a0001c0003t0002a0001c0004t0002 | a0001c0001t0002g0020a0001c0001t0002g0031a0001c0001t0002g0032others(11): Show | 31 | 417 | 0.0743 | 2 | c.343 others(19): Show |
ABHD16A | ENSG00000204427.12 | transcript | ENST00000395952.8 | protein_coding | 4/19 | chr6 | TogoVar | ||||||
ABHD16A_chr6_31681955_31708324 | 31704725 | G | GTT | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00597.hp2 others(38): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0002t0001a0001c0003t0002 | a0001c0001t0002g0011a0001c0001t0002g0020a0001c0001t0002g0030others(18): Show | 41 | 417 | 0.0983 | 2 | c.-14 others(13): Show |
ABHD16A | ENSG00000204427.12 | transcript | ENST00000395952.8 | protein_coding | 1402 | chr6 | TogoVar | ||||||
ABHD17A_chr19_1871810_1890496 | 1874746 | C | CAA | downstream_gene_variant | MODIFIER | HG01891.hp2 HG01928.hp2 HG01943.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0047others(1): Show | 10 | 416 | 0.0240 | 2 | c.*24 others(13): Show |
ABHD17A | ENSG00000129968.17 | transcript | ENST00000292577.12 | protein_coding | 2063 | chr19 | TogoVar | ||||||
ABHD17A_chr19_1871810_1890496 | 1879506 | C | CCT | intron_variant | MODIFIER | HG02280.hp1 HG02896.hp1 HG03139.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0009 | 5 | 416 | 0.0120 | 2 | c.527 others(17): Show |
ABHD17A | ENSG00000129968.17 | transcript | ENST00000292577.12 | protein_coding | 3/4 | chr19 | TogoVar | ||||||
ABHD17A_chr19_1871810_1890496 | 1886951 | C | CAA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(128): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(26): Show | 131 | 416 | 0.3149 | 2 | c.-18 others(13): Show |
ABHD17A | ENSG00000129968.17 | transcript | ENST00000292577.12 | protein_coding | 1456 | chr19 | TogoVar | ||||||
ABHD17B_chr9_71860152_71916193 | 71861093 | A | ACT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(181): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(150): Show | 184 | 186 | 0.9893 | 2 | c.*56 others(13): Show |
ABHD17B | ENSG00000107362.14 | transcript | ENST00000333421.7 | protein_coding | 4058 | chr9 | TogoVar | ||||||
ABHD17B_chr9_71860152_71916193 | 71864213 | C | CTT | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(122): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(100): Show | 125 | 186 | 0.6720 | 2 | c.*25 others(13): Show |
ABHD17B | ENSG00000107362.14 | transcript | ENST00000333421.7 | protein_coding | 938 | chr9 | TogoVar | ||||||
ABHD17B_chr9_71860152_71916193 | 71868052 | C | CAA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0005a0001c0001t0001g0012a0001c0001t0001g0027others(33): Show | 41 | 186 | 0.2204 | 2 | c.648 others(19): Show |
ABHD17B | ENSG00000107362.14 | transcript | ENST00000333421.7 | protein_coding | 3/3 | chr9 | TogoVar | ||||||
ABHD17B_chr9_71860152_71916193 | 71874177 | A | ATT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00733.hp1 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0005a0001c0001t0001g0012a0001c0001t0001g0027others(24): Show | 30 | 186 | 0.1613 | 2 | c.467 others(17): Show |
ABHD17B | ENSG00000107362.14 | transcript | ENST00000333421.7 | protein_coding | 2/3 | chr9 | TogoVar | ||||||
ABHD17B_chr9_71860152_71916193 | 71885460 | C | CAA | intron_variant | MODIFIER | HG01071.hp1 HG01243.hp1 HG01256.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0010 | a0001c0001t0001g0031a0001c0001t0001g0105a0001c0001t0001g0106others(4): Show | 7 | 186 | 0.0376 | 2 | c.-3- others(19): Show |
ABHD17B | ENSG00000107362.14 | transcript | ENST00000333421.7 | protein_coding | 1/3 | chr9 | TogoVar | ||||||
ABHD17B_chr9_71860152_71916193 | 71896681 | A | AAC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(154): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(128): Show | 157 | 186 | 0.8441 | 2 | c.-4+ others(19): Show |
ABHD17B | ENSG00000107362.14 | transcript | ENST00000333421.7 | protein_coding | 1/3 | chr9 | TogoVar | ||||||
ABHD17B_chr9_71860152_71916193 | 71897320 | T | TAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(169): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(140): Show | 172 | 186 | 0.9247 | 2 | c.-4+ others(19): Show |
ABHD17B | ENSG00000107362.14 | transcript | ENST00000333421.7 | protein_coding | 1/3 | chr9 | TogoVar | ||||||
ABHD17B_chr9_71860152_71916193 | 71906819 | C | CAA | intron_variant | MODIFIER | HG01081.hp1 HG01243.hp2 HG02257.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0012 | a0001c0001t0001g0051a0001c0001t0002g0019a0001c0001t0002g0020others(5): Show | 8 | 186 | 0.0430 | 2 | c.-4+ others(17): Show |
ABHD17B | ENSG00000107362.14 | transcript | ENST00000333421.7 | protein_coding | 1/3 | chr9 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80693580 | T | TAA | upstream_gene_variant | MODIFIER | HG00738.hp1 HG01099.hp2 HG01106.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0194a0001c0001t0001g0221a0001c0001t0002g0004others(22): Show | 25 | 360 | 0.0694 | 2 | c.-18 others(13): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1729 | chr15 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80693581 | T | TAA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00735.hp2 others(35): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(1): Show | a0001c0001t0001g0174a0001c0001t0001g0184a0001c0001t0001g0186others(35): Show | 38 | 360 | 0.1056 | 2 | c.-18 others(13): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1728 | chr15 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80698061 | C | CTT | intron_variant | MODIFIER | HG00438.hp2 HG01934.hp2 HG01952.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0281a0001c0001t0001g0282others(17): Show | 21 | 360 | 0.0583 | 2 | c.590 others(19): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD17C_chr15_80690310_80760621 | 80713354 | C | CTT | intron_variant | MODIFIER | HG01255.hp2 HG01496.hp1 HG02258.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0119others(15): Show | 19 | 360 | 0.0528 | 2 | c.590 others(21): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD17C_chr15_80690310_80760621 | 80713900 | C | CCA | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(67): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0064a0001c0001t0001g0117a0001c0001t0001g0124others(65): Show | 70 | 360 | 0.1944 | 2 | c.590 others(21): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD17C_chr15_80690310_80760621 | 80721213 | C | CTT | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG00673.hp2 others(46): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(43): Show | 49 | 360 | 0.1361 | 2 | c.590 others(21): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD17C_chr15_80690310_80760621 | 80723138 | A | ATG | intron_variant | MODIFIER | HG02735.hp1 HG02818.hp1 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0160a0001c0001t0002g0050a0001c0001t0002g0052 | 3 | 360 | 0.0083 | 2 | c.591 others(21): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD18_chr4_127960406_128044953 | 127961240 | T | TTG | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp2 others(84): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0022a0001c0001t0025a0001c0001t0035others(30): Show | a0001c0001t0022g0337a0001c0001t0022g0339a0001c0001t0022g0340others(84): Show | 87 | 344 | 0.2529 | 2 | c.-43 others(13): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 4165 | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 127961820 | C | CAA | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00741.hp2 others(4): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(3): Show | a0001c0001t0002g0222a0001c0001t0002g0243a0001c0001t0004g0177others(4): Show | 7 | 344 | 0.0204 | 2 | c.-38 others(13): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 3585 | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 127966702 | C | CAA | intron_variant | MODIFIER | HG00099.hp2 HG01433.hp2 HG02559.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(5): Show | a0001c0001t0003g0007a0001c0001t0005g0006a0001c0001t0006g0009others(6): Show | 9 | 344 | 0.0262 | 2 | c.-18 others(19): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ABHD18_chr4_127960406_128044953 | 127971482 | C | CTT | intron_variant | MODIFIER | HG02015.hp2 HG02572.hp1 HG02723.hp2 others(3): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0003a0001c0001t0005a0001c0001t0008others(2): Show | a0001c0001t0003g0064a0001c0001t0003g0127a0001c0001t0005g0006others(3): Show | 6 | 344 | 0.0174 | 2 | c.-18 others(19): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ABHD18_chr4_127960406_128044953 | 127972520 | C | CTT | intron_variant | MODIFIER | HG00735.hp2 HG02055.hp2 HG02109.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0018a0001c0001t0043others(4): Show | a0001c0001t0015g0063a0001c0001t0015g0099a0001c0001t0018g0024others(9): Show | 12 | 344 | 0.0349 | 2 | c.-18 others(19): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ABHD18_chr4_127960406_128044953 | 127973817 | C | CAA | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00609.hp1 others(52): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0007 | a0001c0001t0003a0001c0001t0005a0001c0001t0010others(21): Show | a0001c0001t0003g0026a0001c0001t0003g0065a0001c0001t0003g0069others(52): Show | 55 | 344 | 0.1599 | 2 | c.-18 others(19): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ABHD18_chr4_127960406_128044953 | 127974188 | G | GTT | intron_variant | MODIFIER | HG01106.hp1 NA18950.hp1 NA18959.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0003g0021a0001c0001t0003g0046a0001c0001t0003g0101others(4): Show | 7 | 344 | 0.0204 | 2 | c.-18 others(19): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ABHD18_chr4_127960406_128044953 | 127974997 | C | CAA | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp2 HG00738.hp1 others(41): Show |
a0001a0003 | a0001c0001a0001c0005a0003c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(25): Show | a0001c0001t0002g0220a0001c0001t0003g0043a0001c0001t0005g0018others(41): Show | 44 | 344 | 0.1279 | 2 | c.-17 others(19): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ABHD18_chr4_127960406_128044953 | 127979915 | C | CAA | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00558.hp2 others(43): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0013others(19): Show | a0001c0001t0002g0205a0001c0001t0002g0206a0001c0001t0002g0207others(43): Show | 46 | 344 | 0.1337 | 2 | c.-17 others(19): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ABHD18_chr4_127960406_128044953 | 127998281 | C | CTT | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00558.hp2 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0013a0001c0001t0016others(9): Show | a0001c0001t0002g0205a0001c0001t0002g0206a0001c0001t0002g0207others(35): Show | 38 | 344 | 0.1105 | 2 | c.278 others(19): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ABHD18_chr4_127960406_128044953 | 128007328 | T | TAA | intron_variant | MODIFIER | HG02109.hp2 HG02257.hp1 HG02451.hp1 others(8): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0022a0001c0001t0035a0001c0001t0036others(3): Show | a0001c0001t0022g0337a0001c0001t0022g0339a0001c0001t0022g0340others(8): Show | 11 | 344 | 0.0320 | 2 | c.279 others(19): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ABHD18_chr4_127960406_128044953 | 128008261 | C | CTT | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00609.hp1 others(42): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0003a0001c0001t0006a0001c0001t0008others(24): Show | a0001c0001t0003g0050a0001c0001t0006g0163a0001c0001t0008g0080others(42): Show | 45 | 344 | 0.1308 | 2 | c.279 others(17): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ABHD18_chr4_127960406_128044953 | 128010904 | C | CAA | intron_variant | MODIFIER | HG01358.hp2 HG01891.hp2 HG01978.hp2 others(34): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0015a0001c0001t0018a0001c0001t0022others(21): Show | a0001c0001t0015g0027a0001c0001t0018g0024a0001c0001t0018g0033others(34): Show | 37 | 344 | 0.1076 | 2 | c.443 others(17): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ABHD18_chr4_127960406_128044953 | 128039112 | G | GTA | 3_prime_UTR_variant | MODIFIER | HG01891.hp2 HG02486.hp1 HG02622.hp2 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0034a0003c0003t0059a0003c0003t0060 | a0003c0003t0034g0134a0003c0003t0034g0136a0003c0003t0059g0135others(1): Show | 4 | 344 | 0.0116 | 2 | c.*33 others(13): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 13/13 | 3309 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||
ABHD18_chr4_127960406_128044953 | 128039144 | C | CAT | 3_prime_UTR_variant | MODIFIER | HG00408.hp2 HG00741.hp1 HG01081.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0017a0001c0001t0041others(3): Show | a0001c0001t0005g0006a0001c0001t0005g0018a0001c0001t0005g0022others(24): Show | 27 | 344 | 0.0785 | 2 | c.*33 others(13): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 13/13 | 3373 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||
ABHD1_chr2_27118815_27135812 | 27126945 | C | CAA | intron_variant | MODIFIER | HG00140.hp2 HG00733.hp1 HG01167.hp2 others(34): Show |
a0001a0005 | a0001c0001a0005c0013 | a0001c0001t0001a0001c0001t0002a0005c0013t0001 | a0001c0001t0001g0005a0001c0001t0001g0016a0001c0001t0001g0017others(10): Show | 37 | 400 | 0.0925 | 2 | c.115 others(19): Show |
ABHD1 | ENSG00000143994.14 | transcript | ENST00000316470.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABHD1_chr2_27118815_27135812 | 27127236 | C | CTT | intron_variant | MODIFIER | HG00280.hp2 HG00735.hp1 HG01069.hp2 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0010a0001c0001t0001g0024a0001c0001t0001g0051others(8): Show | 17 | 400 | 0.0425 | 2 | c.115 others(19): Show |
ABHD1 | ENSG00000143994.14 | transcript | ENST00000316470.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABHD1_chr2_27118815_27135812 | 27127553 | C | CAA | intron_variant | MODIFIER | HG01358.hp1 HG01884.hp1 HG01934.hp2 others(11): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0002c0002t0001a0004c0004t0001 | a0001c0001t0001g0026a0001c0001t0001g0051a0001c0001t0001g0074others(8): Show | 14 | 400 | 0.0350 | 2 | c.115 others(17): Show |
ABHD1 | ENSG00000143994.14 | transcript | ENST00000316470.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABHD1_chr2_27118815_27135812 | 27135138 | C | CAA | downstream_gene_variant | MODIFIER | HG03490.hp2 HG03492.hp1 HG03927.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0088 | 6 | 400 | 0.0150 | 2 | c.*43 others(13): Show |
ABHD1 | ENSG00000143994.14 | transcript | ENST00000316470.9 | protein_coding | 4327 | chr2 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89095063 | C | CAA | intron_variant | MODIFIER | HG01109.hp1 HG02922.hp1 HG03098.hp1 others(3): Show |
a0001 | a0001c0001a0001c0008a0001c0009 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(3): Show | a0001c0001t0001g0028a0001c0001t0004g0227a0001c0001t0010g0032others(3): Show | 6 | 234 | 0.0256 | 2 | c.-10 others(21): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89111941 | T | TTA | intron_variant | MODIFIER | HG01243.hp2 HG02040.hp2 HG02145.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0091others(13): Show | 16 | 234 | 0.0684 | 2 | c.-10 others(21): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89112857 | G | GAC | intron_variant | MODIFIER | HG00741.hp2 HG01106.hp1 HG01891.hp2 others(8): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(1): Show | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0021others(8): Show | 11 | 234 | 0.0470 | 2 | c.-10 others(19): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89133834 | A | ATT | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp1 HG02145.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0006a0001c0001t0001g0072a0001c0001t0001g0098others(13): Show | 16 | 234 | 0.0684 | 2 | c.194 others(21): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89133850 | T | TTG | intron_variant | MODIFIER | HG01952.hp1 HG02109.hp1 HG02615.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0097a0001c0001t0001g0099a0001c0001t0001g0149others(6): Show | 9 | 234 | 0.0385 | 2 | c.194 others(21): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89136092 | A | ATT | intron_variant | MODIFIER | HG00438.hp1 HG01070.hp1 HG01081.hp1 others(38): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0004a0001c0001t0001g0018a0001c0001t0001g0019others(38): Show | 41 | 234 | 0.1752 | 2 | c.195 others(21): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89146355 | C | CGT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG01070.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0139a0001c0001t0001g0198a0001c0001t0001g0213others(12): Show | 15 | 234 | 0.0641 | 2 | c.195 others(19): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89149214 | A | AAC | intron_variant | MODIFIER | HG01243.hp1 HG02280.hp1 HG02922.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0018a0001c0001t0040a0001c0002t0023others(1): Show | a0001c0001t0018g0036a0001c0001t0040g0010a0001c0002t0023g0112others(1): Show | 4 | 234 | 0.0171 | 2 | c.195 others(19): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89156721 | G | GAA | intron_variant | MODIFIER | HG01109.hp1 HG01361.hp1 HG02055.hp1 others(4): Show |
a0001 | a0001c0001a0001c0007a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0025a0001c0007t0007others(2): Show | a0001c0001t0001g0046a0001c0001t0001g0095a0001c0001t0001g0217others(4): Show | 7 | 234 | 0.0299 | 2 | c.538 others(19): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |