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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABHD12B_chr14_50867053_50909970 | 50909570 | AC | A | downstream_gene_variant | MODIFIER | HG00609.hp2 HG01884.hp2 HG01981.hp1 others(18): Show |
a0001a0009 | a0001c0005a0001c0011a0009c0017 | a0001c0005t0004a0001c0005t0007a0001c0005t0008others(2): Show | a0001c0005t0004g0017a0001c0005t0004g0126a0001c0005t0004g0132others(16): Show | 21 | 376 | 0.0559 | -1 | c.*52 others(6): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 4601 | chr14 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25298268 | TG | T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(161): Show |
a0001a0004 | a0001c0001a0001c0004a0004c0009 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010others(160): Show | 164 | 316 | 0.5190 | -1 | c.*25 others(6): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1945 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25306180 | CA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(148): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0004a0001c0001t0010a0001c0002t0002others(10): Show | a0001c0001t0004g0224a0001c0001t0004g0225a0001c0001t0004g0267others(148): Show | 151 | 316 | 0.4779 | -1 | c.950 others(8): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 10/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25312468 | CG | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(142): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0010a0001c0002t0002a0001c0002t0003others(8): Show | a0001c0001t0010g0290a0001c0001t0010g0292a0001c0001t0010g0294others(142): Show | 145 | 316 | 0.4589 | -1 | c.619 others(9): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 6/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25314678 | TA | T | intron_variant | MODIFIER | HG00438.hp1 HG01167.hp2 HG01169.hp2 others(21): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(2): Show | a0001c0001t0001g0041a0001c0001t0001g0093a0001c0001t0001g0096others(21): Show | 24 | 316 | 0.0760 | -1 | c.619 others(8): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 6/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25318663 | CT | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(142): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(11): Show | a0001c0001t0001g0041a0001c0001t0001g0053a0001c0001t0001g0080others(142): Show | 145 | 316 | 0.4589 | -1 | c.542 others(9): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 4/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25325203 | CA | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00423.hp2 others(82): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0009 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(2): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010others(82): Show | 85 | 316 | 0.2690 | -1 | c.317 others(9): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 2/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25327466 | CA | C | intron_variant | MODIFIER | HG01496.hp2 HG01515.hp1 HG01934.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0002a0001c0002t0007others(2): Show | a0001c0001t0001g0110a0001c0001t0001g0116a0001c0002t0002g0148others(3): Show | 6 | 316 | 0.0190 | -1 | c.317 others(9): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 2/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25333022 | GT | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(148): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0004a0001c0001t0010a0001c0002t0002others(10): Show | a0001c0001t0004g0224a0001c0001t0004g0225a0001c0001t0004g0267others(148): Show | 151 | 316 | 0.4779 | -1 | c.316 others(9): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 2/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25336307 | CT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(172): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0009others(13): Show | a0001c0001t0004g0266a0001c0001t0004g0267a0001c0001t0004g0276others(171): Show | 175 | 316 | 0.5538 | -1 | c.316 others(9): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 2/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25342103 | CA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(220): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(9): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010others(219): Show | 223 | 316 | 0.7057 | -1 | c.192 others(9): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25342454 | AT | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(159): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(13): Show | a0001c0001t0001g0058a0001c0001t0001g0090a0001c0001t0004g0266others(159): Show | 162 | 316 | 0.5127 | -1 | c.192 others(9): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25346757 | GC | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(138): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0002c0006others(2): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0007others(7): Show | a0001c0002t0002g0140a0001c0002t0002g0141a0001c0002t0002g0142others(138): Show | 141 | 316 | 0.4462 | -1 | c.192 others(9): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25347662 | TA | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(166): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0004a0001c0001t0009a0001c0001t0010others(12): Show | a0001c0001t0004g0224a0001c0001t0004g0225a0001c0001t0004g0266others(166): Show | 169 | 316 | 0.5348 | -1 | c.192 others(9): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25347906 | GA | G | intron_variant | MODIFIER | HG01167.hp2 HG02145.hp2 HG02165.hp1 others(5): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0004a0001c0005t0004 | a0001c0001t0001g0055a0001c0001t0001g0056a0001c0001t0004g0225others(5): Show | 8 | 316 | 0.0253 | -1 | c.192 others(9): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25348446 | TA | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00423.hp2 others(118): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(8): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010others(117): Show | 121 | 316 | 0.3829 | -1 | c.192 others(9): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25351009 | AC | A | intron_variant | MODIFIER | HG03491.hp2 NA18964.hp1 NA20905.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0004 | a0001c0001t0001g0047a0001c0001t0001g0072a0001c0004t0004g0278 | 3 | 316 | 0.0095 | -1 | c.192 others(10): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25359100 | TA | T | intron_variant | MODIFIER | HG01167.hp2 HG01256.hp1 HG01361.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(3): Show | a0001c0001t0001g0011a0001c0001t0001g0081a0001c0001t0001g0125others(19): Show | 22 | 316 | 0.0696 | -1 | c.192 others(10): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25360227 | CT | C | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00609.hp2 others(62): Show |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0001a0001c0001t0008a0004c0009t0001 | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011others(62): Show | 65 | 316 | 0.2057 | -1 | c.192 others(10): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25363221 | CT | C | intron_variant | MODIFIER | HG01257.hp1 HG01975.hp1 HG02738.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0010a0001c0002t0002 | a0001c0001t0001g0012a0001c0001t0001g0051a0001c0001t0001g0098others(3): Show | 6 | 316 | 0.0190 | -1 | c.192 others(10): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25369927 | TA | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00423.hp1 others(122): Show |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010others(121): Show | 125 | 316 | 0.3956 | -1 | c.191 others(10): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25372220 | CT | C | intron_variant | MODIFIER | HG00639.hp1 HG01167.hp2 HG01257.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(3): Show | a0001c0001t0001g0031a0001c0001t0001g0044a0001c0001t0001g0056others(9): Show | 12 | 316 | 0.0380 | -1 | c.191 others(10): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25378697 | CT | C | intron_variant | MODIFIER | HG00544.hp1 HG00738.hp2 HG01167.hp2 others(59): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(4): Show | a0001c0001t0001g0043a0001c0001t0001g0081a0001c0001t0001g0123others(59): Show | 62 | 316 | 0.1962 | -1 | c.191 others(10): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25382937 | TG | T | intron_variant | MODIFIER | HG02145.hp2 HG02559.hp1 HG02809.hp1 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0004a0001c0005t0004 | a0001c0001t0004g0267a0001c0001t0004g0291a0001c0005t0004g0293others(1): Show | 4 | 316 | 0.0127 | -1 | c.191 others(9): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25382995 | TC | T | intron_variant | MODIFIER | HG02145.hp1 HG02717.hp1 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0287a0001c0001t0004g0288a0001c0001t0004g0289 | 3 | 316 | 0.0095 | -1 | c.191 others(9): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25383954 | CA | C | intron_variant | MODIFIER | HG01081.hp1 HG01167.hp2 HG01515.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0010 | a0001c0001t0001g0022a0001c0001t0004g0224a0001c0001t0004g0225others(5): Show | 8 | 316 | 0.0253 | -1 | c.191 others(9): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25384156 | GA | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(267): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(15): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010others(266): Show | 270 | 316 | 0.8544 | -1 | c.191 others(9): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25384314 | CA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(148): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0004a0001c0001t0010a0001c0002t0002others(10): Show | a0001c0001t0004g0224a0001c0001t0004g0225a0001c0001t0004g0267others(148): Show | 151 | 316 | 0.4779 | -1 | c.191 others(9): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25385331 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(216): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(12): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010others(216): Show | 219 | 316 | 0.6930 | -1 | c.191 others(9): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25386263 | CT | C | intron_variant | MODIFIER | HG01109.hp2 HG02055.hp1 HG02280.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0001a0001c0001t0005g0309a0001c0001t0005g0310others(5): Show | 9 | 316 | 0.0285 | -1 | c.191 others(9): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25388762 | GT | G | intron_variant | MODIFIER | HG00544.hp1 HG01255.hp1 HG01496.hp1 others(32): Show |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0226a0001c0003t0002g0227a0001c0003t0002g0228others(32): Show | 35 | 316 | 0.1108 | -1 | c.191 others(9): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25390475 | CG | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00639.hp2 others(17): Show |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(1): Show | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011others(17): Show | 20 | 316 | 0.0633 | -1 | c.191 others(7): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25391727 | CT | C | upstream_gene_variant | MODIFIER | HG01167.hp2 HG01361.hp1 HG01515.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010a0001c0001t0012 | a0001c0001t0004g0224a0001c0001t0004g0225a0001c0001t0004g0266others(7): Show | 10 | 316 | 0.0317 | -1 | c.-10 others(6): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 893 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25392344 | TA | T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(182): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(14): Show | a0001c0001t0001g0025a0001c0001t0001g0026a0001c0001t0001g0027others(182): Show | 185 | 316 | 0.5854 | -1 | c.-16 others(6): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1510 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25392645 | CA | C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(57): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0001g0009a0001c0001t0001g0012a0001c0001t0001g0013others(56): Show | 60 | 316 | 0.1899 | -1 | c.-19 others(6): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1811 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25393151 | AC | A | upstream_gene_variant | MODIFIER | HG01167.hp2 HG01361.hp1 HG01515.hp2 others(27): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0004a0001c0001t0009a0001c0001t0010others(3): Show | a0001c0001t0004g0224a0001c0001t0004g0225a0001c0001t0004g0266others(27): Show | 30 | 316 | 0.0949 | -1 | c.-24 others(6): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 2317 | chr20 | TogoVar | ||||||
ABHD13_chr13_108213392_108239243 | 108214866 | AC | A | upstream_gene_variant | MODIFIER | HG01243.hp2 HG01891.hp2 HG02145.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0013a0001c0001t0001g0020a0001c0001t0001g0031others(2): Show | 10 | 390 | 0.0256 | -1 | c.-38 others(6): Show |
ABHD13 | ENSG00000139826.6 | transcript | ENST00000375898.4 | protein_coding | 3525 | chr13 | TogoVar | ||||||
ABHD13_chr13_108213392_108239243 | 108215983 | GT | G | upstream_gene_variant | MODIFIER | HG01243.hp2 HG01891.hp2 HG02809.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015a0001c0001t0033 | a0001c0001t0001g0004a0001c0001t0001g0013a0001c0001t0001g0020others(3): Show | 12 | 390 | 0.0308 | -1 | c.-26 others(6): Show |
ABHD13 | ENSG00000139826.6 | transcript | ENST00000375898.4 | protein_coding | 2408 | chr13 | TogoVar | ||||||
ABHD13_chr13_108213392_108239243 | 108216909 | GT | G | upstream_gene_variant | MODIFIER | HG01243.hp2 HG01891.hp2 HG02809.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015a0001c0001t0033 | a0001c0001t0001g0013a0001c0001t0001g0020a0001c0001t0001g0092others(2): Show | 11 | 390 | 0.0282 | -1 | c.-17 others(6): Show |
ABHD13 | ENSG00000139826.6 | transcript | ENST00000375898.4 | protein_coding | 1482 | chr13 | TogoVar | ||||||
ABHD13_chr13_108213392_108239243 | 108221842 | CT | C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00597.hp1 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(7): Show | a0001c0001t0001g0029a0001c0001t0001g0060a0001c0001t0001g0088others(14): Show | 39 | 390 | 0.1000 | -1 | c.-21 others(9): Show |
ABHD13 | ENSG00000139826.6 | transcript | ENST00000375898.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ABHD13_chr13_108213392_108239243 | 108226184 | GT | G | intron_variant | MODIFIER | HG01515.hp1 HG01517.hp2 HG03239.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0018a0001c0001t0012g0018 | 4 | 390 | 0.0103 | -1 | c.-20 others(9): Show |
ABHD13 | ENSG00000139826.6 | transcript | ENST00000375898.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ABHD13_chr13_108213392_108239243 | 108228219 | TA | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(236): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0010others(75): Show | 239 | 390 | 0.6128 | -1 | c.-20 others(8): Show |
ABHD13 | ENSG00000139826.6 | transcript | ENST00000375898.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ABHD13_chr13_108213392_108239243 | 108231633 | GC | G | 3_prime_UTR_variant | MODIFIER | HG00544.hp2 HG00741.hp1 HG01074.hp2 others(50): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0008others(2): Show | a0001c0001t0003g0002a0001c0001t0003g0026a0001c0001t0003g0027others(13): Show | 53 | 390 | 0.1359 | -1 | c.*14 others(6): Show |
ABHD13 | ENSG00000139826.6 | transcript | ENST00000375898.4 | protein_coding | 2/2 | 1402 | chr13 | TogoVar | |||||
ABHD13_chr13_108213392_108239243 | 108236682 | AT | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00738.hp2 HG01099.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(6): Show | 25 | 390 | 0.0641 | -1 | c.*64 others(6): Show |
ABHD13 | ENSG00000139826.6 | transcript | ENST00000375898.4 | protein_coding | 2440 | chr13 | TogoVar | ||||||
ABHD14A_chr3_51970064_51986196 | 51973505 | GT | G | upstream_gene_variant | MODIFIER | HG01175.hp2 HG01257.hp2 HG02258.hp1 others(12): Show |
a0001a0007 | a0001c0001a0007c0010 | a0001c0001t0001a0007c0010t0001 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0013others(3): Show | 15 | 344 | 0.0436 | -1 | c.-16 others(6): Show |
ABHD14A | ENSG00000248487.10 | transcript | ENST00000273596.8 | protein_coding | 1558 | chr3 | TogoVar | ||||||
ABHD14A_chr3_51970064_51986196 | 51979488 | GT | G | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(41): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0008c0007 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0023a0002c0002t0001g0010others(8): Show | 44 | 344 | 0.1279 | -1 | c.398 others(8): Show |
ABHD14A | ENSG00000248487.10 | transcript | ENST00000273596.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD14A_chr3_51970064_51986196 | 51981894 | CA | C | downstream_gene_variant | MODIFIER | HG00423.hp1 HG01070.hp1 HG01070.hp2 others(36): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(4): Show | 39 | 344 | 0.1134 | -1 | c.*87 others(5): Show |
ABHD14A | ENSG00000248487.10 | transcript | ENST00000273596.8 | protein_coding | 699 | chr3 | TogoVar | ||||||
ABHD14A_chr3_51970064_51986196 | 51983697 | CT | C | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG01884.hp2 others(29): Show |
a0002a0008 | a0002c0002a0008c0007 | a0002c0002t0001a0002c0002t0002a0008c0007t0001 | a0002c0002t0001g0010a0002c0002t0002g0006a0002c0002t0002g0007others(8): Show | 32 | 344 | 0.0930 | -1 | c.*26 others(6): Show |
ABHD14A | ENSG00000248487.10 | transcript | ENST00000273596.8 | protein_coding | 2502 | chr3 | TogoVar | ||||||
ABHD14A_chr3_51970064_51986196 | 51984814 | CA | C | downstream_gene_variant | MODIFIER | HG01074.hp2 HG03540.hp2 HG03710.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0012 | 6 | 344 | 0.0174 | -1 | c.*37 others(6): Show |
ABHD14A | ENSG00000248487.10 | transcript | ENST00000273596.8 | protein_coding | 3619 | chr3 | TogoVar | ||||||
ABHD14B_chr3_51963515_51979049 | 51965013 | AG | A | downstream_gene_variant | MODIFIER | HG02922.hp1 HG02922.hp2 HG02965.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0014 | 5 | 324 | 0.0154 | -1 | c.*44 others(6): Show |
ABHD14B | ENSG00000114779.20 | transcript | ENST00000361143.10 | protein_coding | 3501 | chr3 | TogoVar |