| geneid | 145447 |
|---|---|
| ensemblid | ENSG00000131969.15 |
| hgncid | 19837 |
| symbol | ABHD12B |
| name | abhydrolase domain containing 12B |
| refseq_nuc | NM_001206673.2 |
| refseq_prot | NP_001193602.1 |
| ensembl_nuc | ENST00000337334.7 |
| ensembl_prot | ENSP00000336693.2 |
| mane_status | MANE Select |
| chr | chr14 |
| start | 50872053 |
| end | 50904970 |
| strand | + |
| ver | v1.2 |
| region | chr14:50872053-50904970 |
| region5000 | chr14:50867053-50909970 |
| regionname0 | ABHD12B_chr14_50872053_50904970 |
| regionname5000 | ABHD12B_chr14_50867053_50909970 |
| chr:pos | ref | alt | af | annotation | impact | samples | AHAPIDS | ACHAPIDS | ACTHAPIDS | ACTGHAPIDS | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|
| chr:pos | ref | alt | af | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr14:50885890
|
T | C | 0.1277 | synonymous_variant | LOW | HG00408.hp1 HG00423.hp1 HG00423.hp2 others(45): Show |
a0001a0002a0003others(1): Show | a0001c0006a0001c0011a0002c0004others(2): Show | a0001c0006t0001a0001c0006t0003a0001c0006t0013others(8): Show | a0001c0006t0001g0059a0001c0006t0001g0073a0001c0006t0001g0092others(43): Show | 48 | 376 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 7/13 | c.657T>C | p.Gly219Gly | 779/1815 | 657/1089 | 219/362 |
| chr:pos | ref | alt | af | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr14:50872157
|
A | C | 0.9282 | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(346): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0001c0006others(12): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0014others(23): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(326): Show | 349 | 376 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1/13 | c.-18A>C | 18 |
| chr:pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr14:50875135
|
C | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(371): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(35): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(350): Show | 374 | 376 | 0.9947 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1/12 | c.105-2817C>G | ||||||
|
chr14:50877759
|
T | A | intron_variant | MODIFIER | HG02280.hp2 HG02622.hp1 HG02886.hp2 others(1): Show |
a0001a0002 | a0001c0006a0002c0002a0002c0004 | a0001c0006t0001a0002c0002t0006a0002c0004t0006others(1): Show | a0001c0006t0001g0295a0002c0002t0006g0317a0002c0004t0006g0169others(1): Show | 4 | 376 | 0.0106 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1/12 | c.105-193T>A | ||||||
|
chr14:50878956
|
A | G | intron_variant | MODIFIER | HG02280.hp2 HG02622.hp1 HG02886.hp2 others(1): Show |
a0001a0002 | a0001c0006a0002c0002a0002c0004 | a0001c0006t0001a0002c0002t0006a0002c0004t0006others(1): Show | a0001c0006t0001g0295a0002c0002t0006g0317a0002c0004t0006g0169others(1): Show | 4 | 376 | 0.0106 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 3/12 | c.335+109A>G | ||||||
|
chr14:50879011
|
C | G | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG01167.hp2 others(35): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0032a0001c0001t0001g0162a0001c0001t0001g0296others(33): Show | 38 | 376 | 0.1011 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 3/12 | c.335+164C>G | ||||||
|
chr14:50879368
|
A | C | intron_variant | MODIFIER | HG02280.hp2 HG02622.hp1 HG02886.hp2 others(1): Show |
a0001a0002 | a0001c0006a0002c0002a0002c0004 | a0001c0006t0001a0002c0002t0006a0002c0004t0006others(1): Show | a0001c0006t0001g0295a0002c0002t0006g0317a0002c0004t0006g0169others(1): Show | 4 | 376 | 0.0106 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 3/12 | c.335+521A>C | ||||||
|
chr14:50879692
|
T | G | intron_variant | MODIFIER | HG02280.hp2 HG02622.hp1 HG02886.hp2 others(1): Show |
a0001a0002 | a0001c0006a0002c0002a0002c0004 | a0001c0006t0001a0002c0002t0006a0002c0004t0006others(1): Show | a0001c0006t0001g0295a0002c0002t0006g0317a0002c0004t0006g0169others(1): Show | 4 | 376 | 0.0106 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 3/12 | c.336-760T>G | ||||||
|
chr14:50881563
|
CT | C | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02280.hp2 others(12): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0002c0002others(3): Show | a0001c0001t0001a0001c0006t0001a0002c0002t0005others(5): Show | a0001c0001t0001g0032a0001c0006t0001g0295a0002c0002t0005g0022others(12): Show | 15 | 376 | 0.0399 | -1 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 4/12 | c.456-16delT | INFO_REALIGN_3_PRIME | |||||
|
chr14:50882189
|
G | A | intron_variant | MODIFIER | HG02280.hp2 HG02622.hp1 HG02886.hp2 others(1): Show |
a0001a0002 | a0001c0006a0002c0002a0002c0004 | a0001c0006t0001a0002c0002t0006a0002c0004t0006others(1): Show | a0001c0006t0001g0295a0002c0002t0006g0317a0002c0004t0006g0169others(1): Show | 4 | 376 | 0.0106 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | c.486+563G>A | ||||||
|
chr14:50883957
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(370): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(35): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(349): Show | 373 | 376 | 0.9920 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | c.487-1657T>C | ||||||
|
chr14:50884558
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(334): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0001c0006others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(30): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(315): Show | 337 | 376 | 0.8963 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | c.487-1056A>G | ||||||
|
chr14:50884684
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(358): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0001c0006others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(33): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(337): Show | 361 | 376 | 0.9601 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | c.487-930T>C | ||||||
|
chr14:50884702
|
CTTTTTTT | C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00423.hp2 others(42): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0005t0004others(8): Show | a0001c0001t0001g0181a0001c0001t0001g0189a0001c0001t0001g0256others(40): Show | 45 | 376 | 0.1197 | -7 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | c.487-886_487-880delTTTTTTT | INFO_REALIGN_3_PRIME | |||||
|
chr14:50884712
|
T | C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00423.hp2 others(42): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0005t0004others(8): Show | a0001c0001t0001g0181a0001c0001t0001g0189a0001c0001t0001g0256others(40): Show | 45 | 376 | 0.1197 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | c.487-902T>C | ||||||
|
chr14:50884715
|
T | C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00423.hp2 others(42): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0005t0004others(8): Show | a0001c0001t0001g0181a0001c0001t0001g0189a0001c0001t0001g0256others(40): Show | 45 | 376 | 0.1197 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | c.487-899T>C | ||||||
|
chr14:50884740
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(358): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0001c0006others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(33): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(337): Show | 361 | 376 | 0.9601 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | c.487-874A>G | ||||||
|
chr14:50885010
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(356): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0001c0006others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(33): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(335): Show | 359 | 376 | 0.9548 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | c.487-604G>A | ||||||
|
chr14:50885233
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(357): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0001c0006others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(33): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(336): Show | 360 | 376 | 0.9575 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | c.487-381A>G | ||||||
|
chr14:50885256
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(357): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0001c0006others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(33): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(336): Show | 360 | 376 | 0.9575 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | c.487-358G>A | ||||||
|
chr14:50885441
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(357): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0001c0006others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(33): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(336): Show | 360 | 376 | 0.9575 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | c.487-173C>T | ||||||
|
chr14:50886775
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(358): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(34): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(337): Show | 361 | 376 | 0.9601 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 8/12 | c.700+91T>C | ||||||
|
chr14:50886938
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(358): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(34): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(337): Show | 361 | 376 | 0.9601 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 8/12 | c.700+254C>T | ||||||
|
chr14:50886981
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(358): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(34): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(337): Show | 361 | 376 | 0.9601 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 8/12 | c.700+297T>C | ||||||
|
chr14:50886986
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(358): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(34): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(337): Show | 361 | 376 | 0.9601 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 8/12 | c.700+302T>C | ||||||
|
chr14:50887211
|
C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG01884.hp1 others(14): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0006a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0006t0001others(5): Show | a0001c0001t0001g0032a0001c0001t0004g0318a0001c0006t0001g0295others(14): Show | 17 | 376 | 0.0452 | 12 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 8/12 | c.700+534_700+545dupAAAAAAAAAAAA | INFO_REALIGN_3_PRIME | |||||
|
chr14:50887599
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(358): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(34): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(337): Show | 361 | 376 | 0.9601 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 8/12 | c.700+915A>G | ||||||
|
chr14:50887603
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(370): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(35): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(349): Show | 373 | 376 | 0.9920 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 8/12 | c.700+919C>T | ||||||
|
chr14:50887798
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(352): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(33): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(331): Show | 355 | 376 | 0.9442 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 8/12 | c.701-1026G>A | ||||||
|
chr14:50888313
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(353): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(33): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(332): Show | 356 | 376 | 0.9468 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 8/12 | c.701-511T>C | ||||||
|
chr14:50888328
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(353): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(33): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(332): Show | 356 | 376 | 0.9468 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 8/12 | c.701-496C>T | ||||||
|
chr14:50888452
|
G | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(370): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(35): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(349): Show | 373 | 376 | 0.9920 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 8/12 | c.701-372G>T | ||||||
|
chr14:50889405
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(353): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(33): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(332): Show | 356 | 376 | 0.9468 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+502T>C | ||||||
|
chr14:50889503
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(370): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(35): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(349): Show | 373 | 376 | 0.9920 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+600C>T | ||||||
|
chr14:50889516
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(353): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(33): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(332): Show | 356 | 376 | 0.9468 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+613T>C | ||||||
|
chr14:50889586
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(370): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(35): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(349): Show | 373 | 376 | 0.9920 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+683T>C | ||||||
|
chr14:50890668
|
T | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(353): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(33): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(332): Show | 356 | 376 | 0.9468 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+1765T>G | ||||||
|
chr14:50890683
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(353): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(33): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(332): Show | 356 | 376 | 0.9468 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+1780A>G | ||||||
|
chr14:50890875
|
C | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(354): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(34): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(333): Show | 357 | 376 | 0.9495 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+1972C>A | ||||||
|
chr14:50890977
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(354): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(34): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(333): Show | 357 | 376 | 0.9495 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+2074A>G | ||||||
|
chr14:50891237
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(353): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(33): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(332): Show | 356 | 376 | 0.9468 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+2334T>C | ||||||
|
chr14:50891250
|
CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(367): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(34): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(346): Show | 370 | 376 | 0.9840 | -1 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+2357delT | INFO_REALIGN_3_PRIME | |||||
|
chr14:50891336
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(367): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(33): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(346): Show | 370 | 376 | 0.9840 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+2433G>A | ||||||
|
chr14:50891469
|
T | A | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00423.hp1 others(87): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0006a0001c0011others(10): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0014others(19): Show | a0001c0001t0001g0025a0001c0001t0001g0102a0001c0001t0001g0119others(81): Show | 90 | 376 | 0.2394 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+2566T>A | ||||||
|
chr14:50892076
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(207): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0001c0006others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(23): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(196): Show | 210 | 376 | 0.5585 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+3173C>T | ||||||
|
chr14:50892113
|
A | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(363): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(35): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(342): Show | 366 | 376 | 0.9734 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+3210A>C | ||||||
|
chr14:50892389
|
A | G | intron_variant | MODIFIER | HG02622.hp1 HG02809.hp2 HG02818.hp2 others(2): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0006a0001c0001t0001g0077a0001c0001t0001g0235others(1): Show | 5 | 376 | 0.0133 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+3486A>G |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
ahapid | alen | total | AFR | AMR | EAS | EUR | SAS | aseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABHD12B | 1/1 | a0001 | 362 | 187 | 40 | 37 | 77 | 9 | 22 | subcellular location copy fasta | chr14 | 50867053 | 50909970 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
chapid | clen | total | AFR | AMR | EAS | EUR | SAS | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABHD12B | 0/0 | c0006 | 1089 | 16 | 9 | 4 | 3 | 0 | 0 | copy fasta | chr14 | 50867053 | 50909970 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABHD12B | 0/1 | t0001 | 727 | 195 | 45 | 41 | 72 | 10 | 26 | copy fasta | chr14 | 50867053 | 50909970 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| ABHD12B | 0/0 | g0295 | 1 | 1 | 0 | 0 | 0 | 0 | chr14 | 50867053 | 50909970 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
achapid | total | AFR | AMR | EAS | EUR | SAS | clen | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABHD12B | 0/0 | a0001c0006 | 16 | 9 | 4 | 3 | 0 | 0 | 1089 | copy fasta | chr14 | 50867053 | 50909970 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
acthapid | total | AFR | AMR | EAS | EUR | SAS | tlen | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABHD12B | 0/0 | a0001c0006t0001 | 14 | 7 | 4 | 3 | 0 | 0 | 1815 | copy fasta | chr14 | 50867053 | 50909970 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
actghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| ABHD12B | 0/0 | a0001c0006t0001g0295 | 1 | 1 | 0 | 0 | 0 | 0 | chr14 | 50867053 | 50909970 |
Click to load Haplotype QTL data...
| pos | S. Strand |
E# Exon Number |
max | median | min | diff | type | haplotypeid | max_hap_list | min_hap_list | symbol | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 50872278 | + | 1 | -0.9295 | -0.9295 | -0.9295 | 0.0000 | acceptor | a0001c0006t0001g0295 | HG02622.hp1 | HG02622.hp1 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50877952 | + | 2 | 0.2546 | 0.2546 | 0.2546 | 0.0000 | donor | a0001c0006t0001g0295 | HG02622.hp1 | HG02622.hp1 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50878079 | + | 2 | -0.1380 | -0.1380 | -0.1380 | 0.0000 | acceptor | a0001c0006t0001g0295 | HG02622.hp1 | HG02622.hp1 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50878745 | + | 3 | 0.5883 | 0.5883 | 0.5883 | 0.0000 | donor | a0001c0006t0001g0295 | HG02622.hp1 | HG02622.hp1 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50878847 | + | 3 | -0.8202 | -0.8202 | -0.8202 | 0.0000 | acceptor | a0001c0006t0001g0295 | HG02622.hp1 | HG02622.hp1 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50880452 | + | 4 | 0.9327 | 0.9327 | 0.9327 | 0.0000 | donor | a0001c0006t0001g0295 | HG02622.hp1 | HG02622.hp1 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50880571 | + | 4 | -0.9638 | -0.9637 | -0.9638 | 0.0000 | acceptor | a0001c0006t0001g0295 | HG02622.hp1 | HG02622.hp1 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50881596 | + | 5 | 0.9218 | 0.9218 | 0.9218 | 0.0000 | donor | a0001c0006t0001g0295 | HG02622.hp1 | HG02622.hp1 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50881626 | + | 5 | -0.9502 | -0.9502 | -0.9502 | 0.0000 | acceptor | a0001c0006t0001g0295 | HG02622.hp1 | HG02622.hp1 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50885614 | + | 6 | 0.9472 | 0.9472 | 0.9472 | 0.0000 | donor | a0001c0006t0001g0295 | HG02622.hp1 | HG02622.hp1 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50885659 | + | 6 | -0.9034 | -0.9034 | -0.9034 | 0.0000 | acceptor | a0001c0006t0001g0295 | HG02622.hp1 | HG02622.hp1 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50885766 | + | 7 | 0.9887 | 0.9887 | 0.9887 | 0.0000 | donor | a0001c0006t0001g0295 | HG02622.hp1 | HG02622.hp1 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50885895 | + | 7 | -0.9426 | -0.9426 | -0.9426 | 0.0000 | acceptor | a0001c0006t0001g0295 | HG02622.hp1 | HG02622.hp1 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50886647 | + | 8 | 0.9184 | 0.9184 | 0.9184 | 0.0000 | donor | a0001c0006t0001g0295 | HG02622.hp1 | HG02622.hp1 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50886684 | + | 8 | -0.9650 | -0.9650 | -0.9650 | 0.0000 | acceptor | a0001c0006t0001g0295 | HG02622.hp1 | HG02622.hp1 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50888824 | + | 9 | 0.9955 | 0.9955 | 0.9955 | 0.0000 | donor | a0001c0006t0001g0295 | HG02622.hp1 | HG02622.hp1 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50888903 | + | 9 | -0.9962 | -0.9962 | -0.9962 | 0.0000 | acceptor | a0001c0006t0001g0295 | HG02622.hp1 | HG02622.hp1 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50901829 | + | 10 | 0.9984 | 0.9984 | 0.9984 | 0.0000 | donor | a0001c0006t0001g0295 | HG02622.hp1 | HG02622.hp1 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50901911 | + | 10 | -0.9958 | -0.9958 | -0.9958 | 0.0000 | acceptor | a0001c0006t0001g0295 | HG02622.hp1 | HG02622.hp1 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50903389 | + | 11 | 0.9647 | 0.9647 | 0.9647 | 0.0000 | donor | a0001c0006t0001g0295 | HG02622.hp1 | HG02622.hp1 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50903467 | + | 11 | -0.9682 | -0.9682 | -0.9682 | 0.0000 | acceptor | a0001c0006t0001g0295 | HG02622.hp1 | HG02622.hp1 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50904074 | + | 12 | 0.9349 | 0.9349 | 0.9349 | 0.0000 | donor | a0001c0006t0001g0295 | HG02622.hp1 | HG02622.hp1 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50904192 | + | 12 | -0.9046 | -0.9046 | -0.9046 | 0.0000 | acceptor | a0001c0006t0001g0295 | HG02622.hp1 | HG02622.hp1 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50904339 | + | 13 | 0.5758 | 0.5758 | 0.5758 | 0.0000 | donor | a0001c0006t0001g0295 | HG02622.hp1 | HG02622.hp1 | ABHD12B | chr14 | 50867053 | 50909970 |
| pos | annotationhgvs_chgvs_p | clinvarid | clnsig | geneinfo | mc | clndisdb | strand strand
|
ahapid ahapid_count
|
chapid chapid count
|
thapid thapid_count
|
ghapid ghapid_count
|
AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
impact | chr | ref | alt | external |
|---|
| CHR:POS | annotationhgvs_chgvs_p | disease trait-log10podds or beta | AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
study | initial sample size/replication sample size | report genes | mapped gene | strongest snp risk allele | strand strand
|
impact | chr | ref | alt |
|---|