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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABHD17C_chr15_80690310_80760621 | 80731658 | CTT | C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00544.hp2 others(83): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0168a0001c0001t0001g0170a0001c0001t0001g0179others(76): Show | 86 | 360 | 0.2389 | -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 | 127966702 | CAA | C | intron_variant | MODIFIER | HG00423.hp1 HG01070.hp2 HG01168.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(5): Show | a0001c0001t0002g0129a0001c0001t0004g0131a0001c0001t0004g0132others(7): Show | 10 | 344 | 0.0291 | -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 | 127967772 | CAT | C | intron_variant | MODIFIER | HG01496.hp2 HG02572.hp2 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0061a0001c0001t0063a0001c0001t0064 | a0001c0001t0061g0267a0001c0001t0063g0266a0001c0001t0064g0268 | 3 | 344 | 0.0087 | -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 | 127971075 | CAA | C | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp2 others(60): Show |
a0002a0006 | a0002c0002a0006c0007 | a0002c0002t0001a0002c0002t0014a0002c0002t0020others(15): Show | a0002c0002t0001g0270a0002c0002t0001g0272a0002c0002t0001g0277others(60): Show | 63 | 344 | 0.1831 | -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 | CTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(101): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(37): Show | a0001c0001t0002g0205a0001c0001t0002g0206a0001c0001t0002g0218others(101): Show | 104 | 344 | 0.3023 | -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 | CTT | C | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp2 others(56): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0007 | a0001c0001t0002a0001c0001t0004a0001c0001t0016others(19): Show | a0001c0001t0002g0258a0001c0001t0004g0174a0001c0001t0004g0192others(56): Show | 59 | 344 | 0.1715 | -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 | GTT | G | intron_variant | MODIFIER | HG02109.hp2 HG02257.hp1 HG02451.hp1 others(12): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0022a0001c0001t0035a0001c0001t0036others(6): Show | a0001c0001t0022g0337a0001c0001t0022g0339a0001c0001t0022g0340others(12): Show | 15 | 344 | 0.0436 | -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 | 127978158 | CAA | C | intron_variant | MODIFIER | HG01891.hp2 HG02486.hp1 HG02622.hp2 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0034a0003c0003t0059a0003c0003t0060 | a0003c0003t0034g0134a0003c0003t0034g0136a0003c0003t0059g0135others(1): Show | 4 | 344 | 0.0116 | -2 | c.-17 others(19): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 127985378 | CAT | C | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp2 HG02257.hp1 others(12): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0022a0001c0001t0035a0001c0001t0036others(6): Show | a0001c0001t0022g0337a0001c0001t0022g0339a0001c0001t0022g0340others(12): Show | 15 | 344 | 0.0436 | -2 | c.177 others(17): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ABHD18_chr4_127960406_128044953 | 128001839 | TTG | T | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp2 others(76): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0022a0001c0001t0025a0001c0001t0035others(24): Show | a0001c0001t0022g0337a0001c0001t0022g0339a0001c0001t0022g0340others(76): Show | 79 | 344 | 0.2297 | -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 | 128013977 | CTT | C | intron_variant | MODIFIER | HG00558.hp1 HG00738.hp2 HG01358.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0014a0002c0002t0056 | a0002c0002t0001g0289a0002c0002t0001g0295a0002c0002t0001g0297others(3): Show | 6 | 344 | 0.0174 | -2 | c.470 others(19): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ABHD18_chr4_127960406_128044953 | 128023403 | CAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00438.hp2 others(83): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0006a0002c0002others(3): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(39): Show | a0001c0001t0003g0043a0001c0001t0003g0064a0001c0001t0003g0065others(83): Show | 86 | 344 | 0.2500 | -2 | c.801 others(19): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ABHD18_chr4_127960406_128044953 | 128039144 | CAT | C | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00438.hp2 others(33): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0004 | a0001c0001t0007a0001c0001t0010a0001c0001t0019others(10): Show | a0001c0001t0007g0130a0001c0001t0007g0137a0001c0001t0007g0142others(33): Show | 36 | 344 | 0.1047 | -2 | c.*33 others(13): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 13/13 | 3371 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||
ABHD1_chr2_27118815_27135812 | 27125900 | CAA | C | intron_variant | MODIFIER | HG01074.hp1 HG01496.hp2 HG02280.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0005t0001a0002c0002t0001 | a0001c0001t0001g0021a0001c0001t0001g0034a0001c0001t0001g0043others(8): Show | 16 | 400 | 0.0400 | -2 | c.114 others(19): Show |
ABHD1 | ENSG00000143994.14 | transcript | ENST00000316470.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABHD1_chr2_27118815_27135812 | 27126945 | CAA | C | intron_variant | MODIFIER | HG00738.hp1 HG02622.hp1 HG02897.hp1 others(7): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0008c0010 | a0001c0001t0001a0002c0002t0001a0008c0010t0001 | a0001c0001t0001g0074a0002c0002t0001g0012a0002c0002t0001g0039others(4): Show | 10 | 400 | 0.0250 | -2 | c.115 others(19): Show |
ABHD1 | ENSG00000143994.14 | transcript | ENST00000316470.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89084209 | TAA | T | upstream_gene_variant | MODIFIER | HG00140.hp2 HG01884.hp1 HG02055.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0015a0001c0001t0001g0017a0001c0001t0001g0022others(20): Show | 23 | 234 | 0.0983 | -2 | c.-44 others(13): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 4246 | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89085965 | CTG | C | upstream_gene_variant | MODIFIER | HG01243.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0018 | a0001c0001t0010g0035a0001c0001t0018g0036 | 2 | 234 | 0.0086 | -2 | c.-27 others(13): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 2490 | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89093173 | CTT | C | intron_variant | MODIFIER | HG02630.hp2 HG02895.hp2 HG02896.hp2 others(4): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(4): Show | a0001c0001t0001g0028a0001c0001t0002g0156a0001c0001t0006g0157others(4): Show | 7 | 234 | 0.0299 | -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 | 89117621 | CAG | C | intron_variant | MODIFIER | HG00280.hp2 NA18990.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0028 | a0001c0001t0001g0175a0001c0001t0028g0176 | 2 | 234 | 0.0086 | -2 | c.194 others(19): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89123593 | CTT | C | intron_variant | MODIFIER | HG01952.hp1 HG02109.hp1 HG02109.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0108a0001c0001t0001g0146a0001c0001t0001g0149others(19): Show | 22 | 234 | 0.0940 | -2 | c.194 others(19): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89127722 | CAT | C | intron_variant | MODIFIER | HG00544.hp1 HG00738.hp1 HG00741.hp1 others(35): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0072a0001c0001t0001g0075a0001c0001t0001g0087others(35): Show | 38 | 234 | 0.1624 | -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 | 89133834 | ATT | A | intron_variant | MODIFIER | HG00280.hp1 HG00738.hp2 HG01081.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0158a0001c0001t0001g0160a0001c0001t0001g0172others(17): Show | 20 | 234 | 0.0855 | -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 | 89138864 | TTC | T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00738.hp2 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0015a0001c0001t0001g0046a0001c0001t0001g0052others(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 | CGT | C | intron_variant | MODIFIER | HG00140.hp1 HG01109.hp2 HG01952.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0044a0001c0001t0001g0120a0001c0001t0001g0160others(14): Show | 17 | 234 | 0.0727 | -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 | 89148118 | CAA | C | intron_variant | MODIFIER | HG01109.hp1 HG02896.hp1 HG02922.hp1 others(4): Show |
a0001 | a0001c0001a0001c0007a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0001g0072a0001c0001t0003g0177a0001c0001t0006g0166others(4): Show | 7 | 234 | 0.0299 | -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 | AAC | A | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(99): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0004a0001c0001t0001g0015a0001c0001t0001g0017others(99): Show | 102 | 234 | 0.4359 | -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 | 89156115 | CTT | C | intron_variant | MODIFIER | HG01099.hp1 HG02004.hp1 HG02280.hp2 others(19): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0030a0001c0001t0001g0060a0001c0001t0001g0075others(19): Show | 22 | 234 | 0.0940 | -2 | c.538 others(17): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89157982 | TGG | T | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02895.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0011a0001c0001t0008g0082a0001c0001t0008g0102others(2): Show | 5 | 234 | 0.0214 | -2 | c.538 others(19): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89170080 | CTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00738.hp2 others(45): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0022a0001c0001t0001g0075a0001c0001t0001g0087others(45): Show | 48 | 234 | 0.2051 | -2 | c.539 others(19): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89183384 | AAT | A | intron_variant | MODIFIER | HG01099.hp2 HG01106.hp2 HG02071.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(1): Show | a0001c0001t0001g0192a0001c0001t0001g0195a0001c0001t0002g0077others(2): Show | 5 | 234 | 0.0214 | -2 | c.723 others(19): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89192025 | CAT | C | intron_variant | MODIFIER | HG01243.hp2 HG02145.hp2 HG02258.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0016a0001c0002t0007a0001c0002t0017others(2): Show | a0001c0001t0016g0066a0001c0001t0016g0080a0001c0001t0016g0147others(8): Show | 11 | 234 | 0.0470 | -2 | c.996 others(17): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89198449 | CTG | C | 3_prime_UTR_variant | MODIFIER | HG01928.hp2 HG02129.hp2 NA18990.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0005a0002c0005t0005 | a0001c0001t0005g0037a0001c0001t0005g0125a0001c0001t0005g0126others(3): Show | 6 | 234 | 0.0256 | -2 | c.*30 others(13): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 11/11 | 3028 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||
ABHD2_chr15_89083456_89207355 | 89205128 | TTC | T | downstream_gene_variant | MODIFIER | HG01243.hp2 HG01891.hp2 HG02895.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(5): Show | a0001c0001t0001g0174a0001c0001t0002g0161a0001c0001t0002g0223others(6): Show | 9 | 234 | 0.0385 | -2 | c.*97 others(13): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 2774 | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89205992 | GAA | G | downstream_gene_variant | MODIFIER | HG01884.hp2 HG02071.hp1 HG02622.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0022 | a0001c0001t0001g0068a0001c0001t0001g0108a0001c0001t0001g0148others(3): Show | 6 | 234 | 0.0256 | -2 | c.*10 others(15): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3638 | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89206003 | AAG | A | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00544.hp2 others(85): Show |
a0001 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0025others(5): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0017others(85): Show | 88 | 234 | 0.3761 | -2 | c.*10 others(15): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3649 | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89206666 | AAC | A | downstream_gene_variant | MODIFIER | HG01169.hp1 HG02004.hp2 HG02615.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0044 | a0001c0001t0001g0086a0001c0001t0001g0172a0001c0001t0001g0187others(2): Show | 5 | 234 | 0.0214 | -2 | c.*11 others(15): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 4312 | chr15 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21647658 | CTG | C | downstream_gene_variant | MODIFIER | HG01169.hp1 HG02723.hp2 HG02818.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0140a0001c0001t0002g0141a0001c0001t0002g0142others(3): Show | 6 | 304 | 0.0197 | -2 | c.*39 others(13): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 3242 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21653737 | TAA | T | intron_variant | MODIFIER | HG00639.hp1 NA18946.hp1 NA18954.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0015 | a0001c0001t0002g0159a0001c0001t0002g0171a0001c0001t0003g0264others(3): Show | 6 | 304 | 0.0197 | -2 | c.105 others(21): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 8/8 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21660146 | AAT | A | intron_variant | MODIFIER | HG02723.hp1 HG02970.hp1 HG02976.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0179a0001c0001t0002g0235a0001c0001t0002g0238others(8): Show | 11 | 304 | 0.0362 | -2 | c.669 others(17): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 5/8 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21667234 | CTT | C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02109.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0096a0001c0001t0001g0121a0001c0001t0002g0140others(11): Show | 14 | 304 | 0.0461 | -2 | c.556 others(19): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 4/8 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21675262 | GTT | G | intron_variant | MODIFIER | HG00323.hp1 HG01123.hp2 HG01257.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0120a0001c0001t0001g0125a0001c0001t0002g0148others(8): Show | 11 | 304 | 0.0362 | -2 | c.555 others(19): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 4/8 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21680852 | ATG | A | intron_variant | MODIFIER | HG01978.hp1 HG02735.hp2 HG02738.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014a0001c0001t0001g0046a0001c0001t0001g0047others(6): Show | 9 | 304 | 0.0296 | -2 | c.555 others(19): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 4/8 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21700952 | CAA | C | intron_variant | MODIFIER | HG02559.hp1 HG02717.hp1 HG02886.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0046a0001c0001t0001g0104a0001c0001t0002g0170others(7): Show | 10 | 304 | 0.0329 | -2 | c.509 others(19): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 3/8 | chr18 | TogoVar | ||||||
ABHD4_chr14_22593300_22617963 | 22600826 | AGG | A | intron_variant | MODIFIER | HG00621.hp2 HG00639.hp1 HG00741.hp2 others(46): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0048a0001c0001t0001g0086a0001c0001t0001g0087others(25): Show | 49 | 424 | 0.1156 | -2 | c.24- others(15): Show |
ABHD4 | ENSG00000100439.11 | transcript | ENST00000428304.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ABHD4_chr14_22593300_22617963 | 22600831 | GGT | G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00639.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0010a0001c0001t0001g0141a0001c0001t0001g0142others(2): Show | 11 | 424 | 0.0259 | -2 | c.24- others(15): Show |
ABHD4 | ENSG00000100439.11 | transcript | ENST00000428304.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ABHD4_chr14_22593300_22617963 | 22614528 | TAA | T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(419): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(178): Show | 422 | 424 | 0.9953 | -2 | c.*35 others(13): Show |
ABHD4 | ENSG00000100439.11 | transcript | ENST00000428304.7 | protein_coding | 1566 | chr14 | TogoVar | ||||||
ABHD4_chr14_22593300_22617963 | 22614760 | CTT | C | downstream_gene_variant | MODIFIER | HG00408.hp2 HG01069.hp1 HG01074.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0005a0001c0001t0001g0014a0001c0001t0001g0045others(9): Show | 21 | 424 | 0.0495 | -2 | c.*38 others(13): Show |
ABHD4 | ENSG00000100439.11 | transcript | ENST00000428304.7 | protein_coding | 1798 | chr14 | TogoVar | ||||||
ABHD5_chr3_43685938_43727725 | 43688155 | CTT | C | upstream_gene_variant | MODIFIER | HG02258.hp2 HG02559.hp2 HG02717.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0030 | a0001c0001t0006g0030a0001c0001t0006g0148a0001c0001t0006g0149others(2): Show | 6 | 286 | 0.0210 | -2 | c.-28 others(13): Show |
ABHD5 | ENSG00000011198.10 | transcript | ENST00000644371.2 | protein_coding | 2782 | chr3 | TogoVar | ||||||
ABHD5_chr3_43685938_43727725 | 43714137 | CTT | C | intron_variant | MODIFIER | HG01169.hp2 HG01934.hp1 HG02004.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0019a0001c0001t0021others(1): Show | a0001c0001t0003g0005a0001c0001t0003g0011a0001c0001t0003g0012others(9): Show | 23 | 286 | 0.0804 | -2 | c.662 others(17): Show |
ABHD5 | ENSG00000011198.10 | transcript | ENST00000644371.2 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD5_chr3_43685938_43727725 | 43715085 | CTG | C | intron_variant | MODIFIER | HG02886.hp1 HG03486.hp1 HG06807.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0025 | a0001c0001t0001g0075a0001c0001t0001g0102a0001c0001t0002g0023others(2): Show | 6 | 286 | 0.0210 | -2 | c.773 others(15): Show |
ABHD5 | ENSG00000011198.10 | transcript | ENST00000644371.2 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |