view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 | 50867718 | A | AT | upstream_gene_variant | MODIFIER | HG02559.hp1 HG02615.hp2 HG02809.hp1 others(10): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0004others(3): Show | a0001c0001t0001a0001c0006t0003a0002c0004t0010others(4): Show | a0001c0001t0001g0039 a0001c0001t0001g0162 a0001c0001t0001g0292 others(8): Show |
13 | 374 | 0.0348 | 1 | c.-44 others(12): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 4334 | chr14 | TogoVar | |||||||
ABHD12B_chr14_50867053_50909970 | 50870908 | C | CA | upstream_gene_variant | MODIFIER | HG03471.hp2 HG03540.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0235 a0001c0001t0001g0316 |
3 | 357 | 0.0084 | 1 | c.-12 others(12): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1144 | chr14 | TogoVar | |||||||
ABHD12B_chr14_50867053_50909970 | 50874599 | C | CA | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG00609.hp2 others(84): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0011 a0001c0001t0001g0021 a0001c0001t0001g0039 others(79): Show |
87 | 367 | 0.2371 | 1 | c.104 others(9): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50881429 | A | AT | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(67): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0001c0006others(10): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0016others(15): Show | a0001c0001t0001g0032 a0001c0001t0001g0055 a0001c0001t0001g0057 others(63): Show |
70 | 374 | 0.1872 | 1 | c.456 others(8): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50881563 | C | CT | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00423.hp1 others(35): Show |
a0001a0002a0009 | a0001c0001a0001c0006a0001c0011others(3): Show | a0001c0001t0001a0001c0006t0001a0001c0006t0013others(6): Show | a0001c0001t0001g0172 a0001c0001t0001g0180 a0001c0006t0001g0058 others(33): Show |
38 | 50 | 0.7600 | 1 | c.456 others(7): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50886440 | C | CA | intron_variant | MODIFIER | HG01261.hp2 HG02071.hp2 HG02080.hp2 others(6): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0004others(1): Show | a0001c0001t0001a0002c0002t0002a0002c0002t0011others(2): Show | a0001c0001t0001g0013 a0001c0001t0001g0039 a0001c0001t0001g0104 others(5): Show |
9 | 358 | 0.0251 | 1 | c.663 others(8): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50888208 | C | CT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(284): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(15): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 others(267): Show |
287 | 372 | 0.7715 | 1 | c.701 others(8): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50897071 | G | GT | intron_variant | MODIFIER | HG03710.hp2 NA18989.hp2 NA18998.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0002a0003c0003t0001 | a0001c0001t0001g0049 a0001c0001t0001g0194 a0001c0001t0001g0332 others(3): Show |
6 | 153 | 0.0392 | 1 | c.781 others(9): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50901511 | A | AT | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(128): Show |
a0002a0005a0008others(1): Show | a0002c0002a0002c0004a0005c0008others(2): Show | a0002c0002t0002a0002c0002t0005a0002c0002t0006others(9): Show | a0002c0002t0002g0001 a0002c0002t0002g0003 a0002c0002t0002g0009 others(120): Show |
131 | 374 | 0.3503 | 1 | c.781 others(8): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50908020 | C | CA | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(118): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0001c0013others(5): Show | a0001c0001t0001a0001c0005t0004a0001c0013t0003others(11): Show | a0001c0001t0001g0162 a0001c0001t0001g0316 a0001c0005t0004g0017 others(113): Show |
121 | 180 | 0.6722 | 1 | c.*36 others(12): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 3051 | chr14 | TogoVar | |||||||
ABHD12B_chr14_50867053_50909970 | 50908101 | G | GT | downstream_gene_variant | MODIFIER | HG01175.hp1 HG01175.hp2 HG02074.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0002 | a0001c0001t0001g0049 a0001c0001t0001g0085 a0001c0001t0001g0220 others(4): Show |
7 | 373 | 0.0188 | 1 | c.*37 others(12): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 3132 | chr14 | TogoVar | |||||||
ABHD12B_chr14_50867053_50909970 | 50908981 | T | TA | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(195): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0001c0006others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(25): Show | a0001c0001t0001g0018 a0001c0001t0001g0031 a0001c0001t0001g0034 others(184): Show |
198 | 374 | 0.5294 | 1 | c.*46 others(12): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 4012 | chr14 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25299493 | C | CA | downstream_gene_variant | MODIFIER | HG01109.hp2 HG02055.hp1 HG02280.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005 | a0001c0001t0001g0078 a0001c0001t0004g0225 a0001c0001t0004g0226 others(8): Show |
12 | 311 | 0.0386 | 1 | c.*13 others(6): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 720 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25301445 | C | CT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00423.hp2 others(90): Show |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0001a0001c0001t0007a0004c0009t0001 | a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 others(90): Show |
93 | 314 | 0.2962 | 1 | c.115 others(9): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 12/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25303302 | A | AG | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(170): Show |
a0001a0004 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 others(169): Show |
173 | 314 | 0.5510 | 1 | c.102 others(18): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 11/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25305367 | C | CT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(142): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(4): Show | a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 others(141): Show |
145 | 314 | 0.4618 | 1 | c.950 others(9): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 10/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25308778 | C | CT | intron_variant | MODIFIER | HG02145.hp2 HG02559.hp1 HG02809.hp1 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0004a0001c0005t0004 | a0001c0001t0004g0239 a0001c0001t0004g0291 a0001c0005t0004g0292 others(1): Show |
4 | 314 | 0.0127 | 1 | c.750 others(8): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 7/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25313067 | A | AC | intron_variant | MODIFIER | HG01109.hp1 HG01192.hp1 HG01934.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0002a0001c0003t0002 | a0001c0001t0001g0105 a0001c0001t0001g0129 a0001c0002t0002g0198 others(1): Show |
4 | 314 | 0.0127 | 1 | c.619 others(9): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 6/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25313979 | C | CT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(167): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0008others(12): Show | a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0004g0236 others(163): Show |
170 | 307 | 0.5537 | 1 | c.619 others(8): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 6/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25316160 | C | CT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(160): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0004a0001c0001t0008a0001c0001t0009others(10): Show | a0001c0001t0004g0229 a0001c0001t0004g0233 a0001c0001t0004g0234 others(157): Show |
163 | 314 | 0.5191 | 1 | c.573 others(16): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 5/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25325203 | C | CA | intron_variant | MODIFIER | HG01361.hp1 HG02083.hp2 HG02145.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0008 | a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0068 others(6): Show |
9 | 73 | 0.1233 | 1 | c.317 others(9): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 2/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25327466 | C | CA | intron_variant | MODIFIER | HG00735.hp2 HG01109.hp2 HG01167.hp2 others(20): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0001g0127 a0001c0001t0004g0229 a0001c0001t0004g0233 others(19): Show |
23 | 306 | 0.0752 | 1 | c.317 others(9): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 2/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25330862 | G | GA | intron_variant | MODIFIER | HG01167.hp2 HG01361.hp1 HG01891.hp1 others(15): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0001t0008a0001c0004t0004 | a0001c0001t0004g0229 a0001c0001t0004g0233 a0001c0001t0004g0234 others(15): Show |
18 | 314 | 0.0573 | 1 | c.317 others(9): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 2/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25332984 | C | CA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(148): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0004a0001c0001t0009a0001c0002t0002others(9): Show | a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0004g0239 others(145): Show |
151 | 314 | 0.4809 | 1 | c.316 others(9): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 2/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25335967 | T | TA | intron_variant | MODIFIER | HG00544.hp1 HG01109.hp2 HG01255.hp1 others(42): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0005a0001c0003t0002 | a0001c0001t0005g0004 a0001c0001t0005g0306 a0001c0001t0005g0307 others(39): Show |
45 | 314 | 0.1433 | 1 | c.316 others(9): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 2/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25342103 | C | CA | intron_variant | MODIFIER | HG01361.hp1 HG01496.hp2 HG01943.hp1 others(11): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(1): Show | a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 others(11): Show |
14 | 71 | 0.1972 | 1 | c.192 others(9): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25342454 | A | AT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(20): Show |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0001a0001c0001t0007a0004c0009t0001 | a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 others(20): Show |
23 | 147 | 0.1565 | 1 | c.192 others(9): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25347662 | T | TA | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(18): Show |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0001a0001c0001t0007a0004c0009t0001 | a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 others(18): Show |
21 | 145 | 0.1448 | 1 | c.192 others(9): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25347905 | A | AG | intron_variant | MODIFIER | HG02027.hp1 HG03927.hp2 NA18966.hp1 others(1): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0002 | a0001c0002t0002g0198 a0001c0003t0002g0266 a0001c0003t0002g0269 others(1): Show |
4 | 314 | 0.0127 | 1 | c.192 others(9): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25349083 | C | CA | intron_variant | MODIFIER | HG01167.hp2 HG01361.hp1 HG01891.hp1 others(12): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(1): Show | a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0004g0229 others(12): Show |
15 | 307 | 0.0489 | 1 | c.192 others(9): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25355483 | G | GC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(269): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(15): Show | a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 others(265): Show |
272 | 314 | 0.8662 | 1 | c.192 others(20): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25359100 | T | TA | intron_variant | MODIFIER | HG00544.hp1 HG01109.hp1 HG01175.hp2 others(46): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(2): Show | a0001c0001t0001g0049 a0001c0001t0001g0132 a0001c0001t0004g0225 others(44): Show |
49 | 289 | 0.1696 | 1 | c.192 others(10): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25359423 | C | CA | intron_variant | MODIFIER | HG01069.hp2 HG01106.hp2 HG01257.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0017 others(7): Show |
10 | 147 | 0.0680 | 1 | c.192 others(10): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25360227 | C | CT | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00597.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0009 | a0001c0001t0001g0018 a0001c0001t0001g0028 a0001c0001t0001g0031 others(17): Show |
20 | 89 | 0.2247 | 1 | c.192 others(10): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25361404 | G | GT | intron_variant | MODIFIER | HG01109.hp2 HG01981.hp1 HG02055.hp1 others(13): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0001g0039 a0001c0001t0001g0112 a0001c0001t0004g0225 others(12): Show |
16 | 314 | 0.0510 | 1 | c.192 others(10): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25363221 | C | CT | intron_variant | MODIFIER | HG02145.hp2 HG02809.hp1 HG02818.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0004a0001c0003t0002a0001c0005t0004 | a0001c0001t0004g0237 a0001c0001t0004g0239 a0001c0003t0002g0269 others(3): Show |
6 | 307 | 0.0195 | 1 | c.192 others(10): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25370849 | C | CT | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp2 others(76): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0026 others(75): Show |
79 | 292 | 0.2705 | 1 | c.191 others(10): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25381626 | C | CT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(165): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(10): Show | a0001c0001t0001g0067 a0001c0001t0004g0225 a0001c0001t0004g0226 others(161): Show |
168 | 308 | 0.5455 | 1 | c.191 others(9): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25383954 | C | CA | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00544.hp1 others(91): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(6): Show | a0001c0001t0001g0028 a0001c0001t0001g0062 a0001c0001t0001g0132 others(88): Show |
94 | 293 | 0.3208 | 1 | c.191 others(9): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25383975 | G | GA | intron_variant | MODIFIER | HG00733.hp2 HG00735.hp1 HG01192.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0002t0002 | a0001c0001t0008g0305 a0001c0002t0002g0157 a0001c0002t0002g0165 others(2): Show |
5 | 314 | 0.0159 | 1 | c.191 others(9): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25385331 | C | CA | intron_variant | MODIFIER | HG01515.hp2 HG01975.hp1 HG02055.hp1 others(10): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0004a0001c0001t0005a0001c0001t0007others(3): Show | a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0005g0312 others(10): Show |
13 | 48 | 0.2708 | 1 | c.191 others(9): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25386263 | C | CT | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp2 others(70): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0014 others(70): Show |
73 | 305 | 0.2393 | 1 | c.191 others(9): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25388038 | C | CA | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00609.hp1 others(59): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(6): Show | a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0030 others(57): Show |
62 | 292 | 0.2123 | 1 | c.191 others(9): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25388077 | C | CA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(139): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(7): Show | a0001c0001t0001g0129 a0001c0002t0002g0143 a0001c0002t0002g0144 others(136): Show |
142 | 314 | 0.4522 | 1 | c.191 others(9): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25388787 | C | CT | intron_variant | MODIFIER | HG01069.hp2 HG01109.hp2 HG01496.hp2 others(25): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0001g0012 a0001c0001t0001g0031 a0001c0001t0001g0032 others(24): Show |
28 | 226 | 0.1239 | 1 | c.191 others(9): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25388790 | T | TC | intron_variant | MODIFIER | HG00741.hp1 HG02486.hp2 HG02818.hp2 others(4): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0010a0001c0003t0002a0001c0003t0010 | a0001c0002t0010g0298 a0001c0003t0002g0252 a0001c0003t0002g0294 others(4): Show |
7 | 314 | 0.0223 | 1 | c.191 others(18): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25389184 | T | TA | intron_variant | MODIFIER | HG00544.hp1 HG01255.hp1 HG01496.hp1 others(32): Show |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0002 a0001c0003t0002g0003 a0001c0003t0002g0253 others(30): Show |
35 | 314 | 0.1115 | 1 | c.191 others(9): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25390476 | G | GC | intron_variant | MODIFIER | HG00741.hp2 HG01071.hp1 HG01109.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0007 | a0001c0001t0001g0044 a0001c0001t0001g0065 a0001c0001t0001g0070 others(19): Show |
22 | 61 | 0.3607 | 1 | c.191 others(14): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25391727 | C | CT | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(216): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(9): Show | a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 others(213): Show |
219 | 281 | 0.7794 | 1 | c.-10 others(6): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 893 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25391733 | T | TC | upstream_gene_variant | MODIFIER | HG02145.hp2 HG02559.hp1 HG02809.hp1 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0004a0001c0005t0004 | a0001c0001t0004g0239 a0001c0001t0004g0291 a0001c0005t0004g0292 others(1): Show |
4 | 314 | 0.0127 | 1 | c.-10 others(12): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 899 | chr20 | TogoVar |