| geneid | 57406 |
|---|---|
| ensemblid | ENSG00000163686.15 |
| hgncid | 21398 |
| symbol | ABHD6 |
| name | abhydrolase domain containing 6, acylglycerol lipase |
| refseq_nuc | NM_001320126.2 |
| refseq_prot | NP_001307055.1 |
| ensembl_nuc | ENST00000478253.6 |
| ensembl_prot | ENSP00000420315.1 |
| mane_status | MANE Select |
| chr | chr3 |
| start | 58237792 |
| end | 58294734 |
| strand | + |
| ver | v1.2 |
| region | chr3:58237792-58294734 |
| region5000 | chr3:58232792-58299734 |
| regionname0 | ABHD6_chr3_58237792_58294734 |
| regionname5000 | ABHD6_chr3_58232792_58299734 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr3:58256606
|
A | G | 0.0033 | missense_variant | MODERATE | NA18954.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0187 | 1 | 302 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 3/10 | c.20A>G | p.Asn7Ser | 235/2198 | 20/1014 | 7/337 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr3:58237816
|
G | C | 0.8940 | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(267): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(260): Show | 270 | 302 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/10 | c.-191G>C | 18771 | |||||
|
chr3:58294044
|
G | C | 0.8874 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(265): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(258): Show | 268 | 302 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 10/10 | c.*279G>C | 279 | |||||
|
chr3:58294334
|
T | C | 0.8841 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(264): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(257): Show | 267 | 302 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 10/10 | c.*569T>C | 569 | |||||
|
chr3:58294362
|
G | A | 0.5464 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(162): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(6): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(156): Show | 165 | 302 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 10/10 | c.*597G>A | 597 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr3:58239609
|
G | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(267): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(260): Show | 270 | 302 | 0.8940 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/9 | c.-91+1693G>T | ||||||
|
chr3:58240731
|
A | ATTT | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00544.hp2 others(155): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0014others(150): Show | 158 | 302 | 0.5232 | 3 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/9 | c.-91+2830_-91+2832dupTTT | INFO_REALIGN_3_PRIME | |||||
|
chr3:58240754
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(268): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(261): Show | 271 | 302 | 0.8974 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/9 | c.-91+2838G>A | ||||||
|
chr3:58240972
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(267): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(260): Show | 270 | 302 | 0.8940 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/9 | c.-91+3056T>C | ||||||
|
chr3:58242712
|
T | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(263): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(256): Show | 266 | 302 | 0.8808 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/9 | c.-91+4796T>A | ||||||
|
chr3:58242901
|
G | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(159): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(153): Show | 162 | 302 | 0.5364 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/9 | c.-91+4985G>T | ||||||
|
chr3:58243130
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(264): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(257): Show | 267 | 302 | 0.8841 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/9 | c.-91+5214G>A | ||||||
|
chr3:58243823
|
C | G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(262): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(255): Show | 265 | 302 | 0.8775 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/9 | c.-91+5907C>G | ||||||
|
chr3:58243926
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(262): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(255): Show | 265 | 302 | 0.8775 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/9 | c.-90-5952A>G | ||||||
|
chr3:58244709
|
C | T | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00733.hp2 others(137): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(5): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(131): Show | 140 | 302 | 0.4636 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/9 | c.-90-5169C>T | ||||||
|
chr3:58245385
|
C | T | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00733.hp2 others(136): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(130): Show | 139 | 302 | 0.4603 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/9 | c.-90-4493C>T | ||||||
|
chr3:58245699
|
G | C | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00733.hp2 others(136): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(130): Show | 139 | 302 | 0.4603 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/9 | c.-90-4179G>C | ||||||
|
chr3:58245827
|
A | AAAAG | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(260): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(253): Show | 263 | 302 | 0.8709 | 4 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/9 | c.-90-4040_-90-4037dupAGAA | INFO_REALIGN_3_PRIME | |||||
|
chr3:58246419
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(262): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(255): Show | 265 | 302 | 0.8775 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/9 | c.-90-3459G>A | ||||||
|
chr3:58246758
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(262): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(255): Show | 265 | 302 | 0.8775 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/9 | c.-90-3120A>G | ||||||
|
chr3:58246803
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(262): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(255): Show | 265 | 302 | 0.8775 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/9 | c.-90-3075C>T | ||||||
|
chr3:58247002
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(262): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(255): Show | 265 | 302 | 0.8775 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/9 | c.-90-2876A>G | ||||||
|
chr3:58247214
|
G | A | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00733.hp2 others(136): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(130): Show | 139 | 302 | 0.4603 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/9 | c.-90-2664G>A | ||||||
|
chr3:58248468
|
C | T | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00733.hp2 others(136): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(130): Show | 139 | 302 | 0.4603 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/9 | c.-90-1410C>T | ||||||
|
chr3:58248752
|
G | A | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00733.hp2 others(136): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(130): Show | 139 | 302 | 0.4603 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/9 | c.-90-1126G>A | ||||||
|
chr3:58249151
|
C | T | intron_variant | MODIFIER | HG00544.hp2 HG00733.hp2 HG00738.hp1 others(99): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(3): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(95): Show | 102 | 302 | 0.3378 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/9 | c.-90-727C>T | ||||||
|
chr3:58249600
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(261): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(254): Show | 264 | 302 | 0.8742 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/9 | c.-90-278T>C | ||||||
|
chr3:58250201
|
G | T | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00733.hp2 others(133): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(127): Show | 136 | 302 | 0.4503 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 2/9 | c.-26+259G>T | ||||||
|
chr3:58250399
|
G | A | intron_variant | MODIFIER | NA18954.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0187 | 1 | 302 | 0.0033 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 2/9 | c.-26+457G>A | ||||||
|
chr3:58251276
|
C | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(169): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(10): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(163): Show | 172 | 302 | 0.5695 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 2/9 | c.-26+1334C>A | ||||||
|
chr3:58251315
|
T | TA | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(169): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(10): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(163): Show | 172 | 302 | 0.5695 | 1 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 2/9 | c.-26+1385dupA | INFO_REALIGN_3_PRIME | |||||
|
chr3:58252158
|
A | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(260): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(253): Show | 263 | 302 | 0.8709 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 2/9 | c.-26+2216A>T | ||||||
|
chr3:58252229
|
G | GTT | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00733.hp2 others(105): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(99): Show | 108 | 302 | 0.3576 | 2 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 2/9 | c.-26+2309_-26+2310dupTT | INFO_REALIGN_3_PRIME | |||||
|
chr3:58253167
|
GT | G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(254): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(247): Show | 257 | 302 | 0.8510 | -1 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 2/9 | c.-26+3237delT | INFO_REALIGN_3_PRIME | |||||
|
chr3:58253375
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(168): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(9): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(162): Show | 171 | 302 | 0.5662 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 2/9 | c.-25-3187C>T | ||||||
|
chr3:58253466
|
G | T | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00733.hp2 others(133): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(127): Show | 136 | 302 | 0.4503 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 2/9 | c.-25-3096G>T | ||||||
|
chr3:58253653
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(168): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(9): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(162): Show | 171 | 302 | 0.5662 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 2/9 | c.-25-2909C>T | ||||||
|
chr3:58254490
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(168): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(9): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(162): Show | 171 | 302 | 0.5662 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 2/9 | c.-25-2072C>T | ||||||
|
chr3:58254759
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(168): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(9): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(162): Show | 171 | 302 | 0.5662 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 2/9 | c.-25-1803A>G | ||||||
|
chr3:58254851
|
TAC | T | intron_variant | MODIFIER | HG00544.hp2 HG00733.hp2 HG00738.hp2 others(88): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0011others(85): Show | 91 | 302 | 0.3013 | -2 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 2/9 | c.-25-1679_-25-1678delCA | INFO_REALIGN_3_PRIME | |||||
|
chr3:58255332
|
A | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(169): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(10): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(163): Show | 172 | 302 | 0.5695 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 2/9 | c.-25-1230A>C | ||||||
|
chr3:58255462
|
C | CT | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00733.hp2 others(122): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(116): Show | 125 | 302 | 0.4139 | 1 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 2/9 | c.-25-1082dupT | INFO_REALIGN_3_PRIME | |||||
|
chr3:58255504
|
G | A | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00733.hp2 others(133): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(127): Show | 136 | 302 | 0.4503 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 2/9 | c.-25-1058G>A | ||||||
|
chr3:58255579
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(261): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(254): Show | 264 | 302 | 0.8742 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 2/9 | c.-25-983T>C | ||||||
|
chr3:58256096
|
C | CACACACA others(3): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(144): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(138): Show | 147 | 302 | 0.4868 | 10 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 2/9 | c.-25-457_-25-456insGACACACACA | INFO_REALIGN_3_PRIME | |||||
|
chr3:58256110
|
T | TAC | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(161): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(155): Show | 164 | 302 | 0.5431 | 2 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 2/9 | c.-25-445_-25-444dupAC | INFO_REALIGN_3_PRIME | |||||
|
chr3:58256345
|
GTT | G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(254): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(247): Show | 257 | 302 | 0.8510 | -2 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 2/9 | c.-25-206_-25-205delTT | INFO_REALIGN_3_PRIME | |||||
|
chr3:58257206
|
C | T | intron_variant | MODIFIER | NA18954.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0187 | 1 | 302 | 0.0033 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 3/9 | c.119+501C>T | ||||||
|
chr3:58257385
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(257): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(250): Show | 260 | 302 | 0.8609 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 3/9 | c.119+680A>G | ||||||
|
chr3:58257387
|
C | CAG | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(257): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(250): Show | 260 | 302 | 0.8609 | 2 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 3/9 | c.119+683_119+684dupAG | INFO_REALIGN_3_PRIME | |||||
|
chr3:58257562
|
C | T | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00733.hp2 others(133): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(127): Show | 136 | 302 | 0.4503 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 3/9 | c.119+857C>T | ||||||
|
chr3:58257725
|
A | G | intron_variant | MODIFIER | HG00544.hp2 HG00733.hp2 HG00738.hp1 others(106): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(3): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(102): Show | 109 | 302 | 0.3609 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 3/9 | c.119+1020A>G | ||||||
|
chr3:58257867
|
C | A | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00733.hp2 others(133): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(127): Show | 136 | 302 | 0.4503 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 3/9 | c.119+1162C>A | ||||||
|
chr3:58258171
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(168): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(9): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(162): Show | 171 | 302 | 0.5662 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 3/9 | c.119+1466G>A | ||||||
|
chr3:58259428
|
C | T | intron_variant | MODIFIER | HG00738.hp1 HG00741.hp2 HG01081.hp1 others(25): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0002c0002t0001a0004c0004t0001 | a0001c0001t0001g0005a0001c0001t0001g0011a0001c0001t0001g0077others(23): Show | 28 | 302 | 0.0927 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 3/9 | c.119+2723C>T | ||||||
|
chr3:58259928
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(257): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(250): Show | 260 | 302 | 0.8609 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 3/9 | c.119+3223C>T | ||||||
|
chr3:58262807
|
C | T | intron_variant | MODIFIER | HG00544.hp2 HG00738.hp1 HG00741.hp2 others(90): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(3): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0011others(87): Show | 93 | 302 | 0.3080 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 3/9 | c.120-4382C>T | ||||||
|
chr3:58263888
|
A | C | intron_variant | MODIFIER | HG00544.hp2 HG00733.hp2 HG00738.hp1 others(98): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(3): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(94): Show | 101 | 302 | 0.3344 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 3/9 | c.120-3301A>C | ||||||
|
chr3:58264387
|
GCACACAC others(9): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG01175.hp1 others(32): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0007a0001c0001t0011others(2): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0011others(29): Show | 35 | 302 | 0.1159 | -16 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 3/9 | c.120-2759_120-2744delCACACACACACACACA | INFO_REALIGN_3_PRIME | |||||
|
chr3:58266230
|
C | G | intron_variant | MODIFIER | HG00544.hp2 HG00733.hp2 HG00738.hp1 others(97): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(3): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(93): Show | 100 | 302 | 0.3311 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 3/9 | c.120-959C>G | ||||||
|
chr3:58266432
|
TA | T | intron_variant | MODIFIER | HG00544.hp2 HG00733.hp2 HG00738.hp1 others(96): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(2): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(92): Show | 99 | 302 | 0.3278 | -1 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 3/9 | c.120-743delA | INFO_REALIGN_3_PRIME | |||||
|
chr3:58268158
|
C | T | intron_variant | MODIFIER | HG00544.hp2 HG00733.hp2 HG00738.hp1 others(97): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(3): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(93): Show | 100 | 302 | 0.3311 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 4/9 | c.276+813C>T | ||||||
|
chr3:58270698
|
A | C | intron_variant | MODIFIER | HG00544.hp2 HG00733.hp2 HG00738.hp1 others(106): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(3): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(102): Show | 109 | 302 | 0.3609 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 5/9 | c.391-234A>C | ||||||
|
chr3:58271333
|
TA | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(165): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(9): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(159): Show | 168 | 302 | 0.5563 | -1 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 6/9 | c.523+283delA | INFO_REALIGN_3_PRIME | |||||
|
chr3:58271766
|
GT | G | intron_variant | MODIFIER | HG00741.hp2 HG01081.hp1 HG01168.hp1 others(69): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0008a0001c0001t0011others(3): Show | a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0001g0014others(67): Show | 72 | 302 | 0.2384 | -1 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 6/9 | c.523+726delT | INFO_REALIGN_3_PRIME | |||||
|
chr3:58274272
|
A | G | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00733.hp2 others(147): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(141): Show | 150 | 302 | 0.4967 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 6/9 | c.524-386A>G | ||||||
|
chr3:58274346
|
A | G | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00733.hp2 others(156): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(150): Show | 159 | 302 | 0.5265 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 6/9 | c.524-312A>G | ||||||
|
chr3:58274422
|
T | G | intron_variant | MODIFIER | HG00544.hp2 HG00733.hp2 HG00738.hp1 others(108): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(104): Show | 111 | 302 | 0.3676 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 6/9 | c.524-236T>G | ||||||
|
chr3:58275330
|
C | CT | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00733.hp2 others(149): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(143): Show | 152 | 302 | 0.5033 | 1 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 7/9 | c.681+531dupT | INFO_REALIGN_3_PRIME | |||||
|
chr3:58275352
|
CAG | C | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00733.hp2 others(142): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(136): Show | 145 | 302 | 0.4801 | -2 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 7/9 | c.681+540_681+541delAG | INFO_REALIGN_3_PRIME | |||||
|
chr3:58276014
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(265): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(258): Show | 268 | 302 | 0.8874 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 7/9 | c.681+1199A>G | ||||||
|
chr3:58276477
|
T | C | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00733.hp2 others(142): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(136): Show | 145 | 302 | 0.4801 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 7/9 | c.681+1662T>C | ||||||
|
chr3:58276530
|
G | A | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00733.hp2 others(151): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(145): Show | 154 | 302 | 0.5099 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 7/9 | c.681+1715G>A | ||||||
|
chr3:58277424
|
T | G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(172): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(8): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(166): Show | 175 | 302 | 0.5795 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 7/9 | c.681+2609T>G | ||||||
|
chr3:58277624
|
T | G | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00733.hp2 others(146): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(140): Show | 149 | 302 | 0.4934 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 7/9 | c.681+2809T>G | ||||||
|
chr3:58278167
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(265): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(258): Show | 268 | 302 | 0.8874 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 7/9 | c.681+3352A>G | ||||||
|
chr3:58278512
|
C | T | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00733.hp2 others(157): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(151): Show | 160 | 302 | 0.5298 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 7/9 | c.681+3697C>T | ||||||
|
chr3:58279425
|
CT | C | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00733.hp2 others(151): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(145): Show | 154 | 302 | 0.5099 | -1 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 7/9 | c.681+4619delT | INFO_REALIGN_3_PRIME | |||||
|
chr3:58280223
|
C | T | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00733.hp2 others(151): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(145): Show | 154 | 302 | 0.5099 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 7/9 | c.682-4862C>T | ||||||
|
chr3:58281560
|
C | T | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00733.hp2 others(142): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(136): Show | 145 | 302 | 0.4801 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 7/9 | c.682-3525C>T | ||||||
|
chr3:58281676
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(265): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(258): Show | 268 | 302 | 0.8874 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 7/9 | c.682-3409T>C | ||||||
|
chr3:58282223
|
A | G | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00733.hp2 others(151): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(145): Show | 154 | 302 | 0.5099 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 7/9 | c.682-2862A>G | ||||||
|
chr3:58282617
|
A | T | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00733.hp2 others(157): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(151): Show | 160 | 302 | 0.5298 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 7/9 | c.682-2468A>T | ||||||
|
chr3:58283023
|
C | A | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00733.hp2 others(142): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(136): Show | 145 | 302 | 0.4801 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 7/9 | c.682-2062C>A | ||||||
|
chr3:58283066
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(172): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(8): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(166): Show | 175 | 302 | 0.5795 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 7/9 | c.682-2019A>G | ||||||
|
chr3:58283724
|
A | G | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00733.hp2 others(142): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(136): Show | 145 | 302 | 0.4801 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 7/9 | c.682-1361A>G | ||||||
|
chr3:58283784
|
C | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(172): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(8): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(166): Show | 175 | 302 | 0.5795 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 7/9 | c.682-1301C>A | ||||||
|
chr3:58283812
|
C | T | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00733.hp2 others(151): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(145): Show | 154 | 302 | 0.5099 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 7/9 | c.682-1273C>T | ||||||
|
chr3:58283839
|
G | T | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00733.hp2 others(142): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(136): Show | 145 | 302 | 0.4801 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 7/9 | c.682-1246G>T | ||||||
|
chr3:58283985
|
T | G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(172): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(8): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(166): Show | 175 | 302 | 0.5795 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 7/9 | c.682-1100T>G | ||||||
|
chr3:58284024
|
G | T | intron_variant | MODIFIER | HG00544.hp2 HG00733.hp2 HG00738.hp1 others(117): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(113): Show | 120 | 302 | 0.3974 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 7/9 | c.682-1061G>T | ||||||
|
chr3:58285236
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(265): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(258): Show | 268 | 302 | 0.8874 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 8/9 | c.736+97T>C | ||||||
|
chr3:58285851
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(264): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(257): Show | 267 | 302 | 0.8841 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.837+398C>T | ||||||
|
chr3:58286025
|
GT | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(259): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(252): Show | 262 | 302 | 0.8676 | -1 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.837+585delT | INFO_REALIGN_3_PRIME | |||||
|
chr3:58286121
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(258): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(251): Show | 261 | 302 | 0.8642 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.837+668G>A | ||||||
|
chr3:58286139
|
C | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(162): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(6): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(156): Show | 165 | 302 | 0.5464 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.837+686C>A | ||||||
|
chr3:58286444
|
A | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(264): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(257): Show | 267 | 302 | 0.8841 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.837+991A>C | ||||||
|
chr3:58286846
|
G | A | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00733.hp2 others(145): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(140): Show | 148 | 302 | 0.4901 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.837+1393G>A | ||||||
|
chr3:58286848
|
G | GCATATAT others(25): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0187 | 1 | 302 | 0.0033 | 32 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.837+1395_837+1396insCATATATATATATATATATATATATATATATA | ||||||
|
chr3:58286850
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(220): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(12): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(216): Show | 223 | 302 | 0.7384 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.837+1397G>A | ||||||
|
chr3:58286852
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(260): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(253): Show | 263 | 302 | 0.8709 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.837+1399G>A | ||||||
|
chr3:58286870
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(260): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(253): Show | 263 | 302 | 0.8709 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.837+1417G>A | ||||||
|
chr3:58286908
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(264): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(257): Show | 267 | 302 | 0.8841 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.837+1455T>C | ||||||
|
chr3:58286912
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(264): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(257): Show | 267 | 302 | 0.8841 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.837+1459T>C | ||||||
|
chr3:58288016
|
T | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(264): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(257): Show | 267 | 302 | 0.8841 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.837+2563T>A | ||||||
|
chr3:58288088
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(264): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(257): Show | 267 | 302 | 0.8841 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.837+2635G>A | ||||||
|
chr3:58288613
|
C | CACTA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(264): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(257): Show | 267 | 302 | 0.8841 | 4 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.837+3163_837+3164insAACT | INFO_REALIGN_3_PRIME | |||||
|
chr3:58289228
|
A | AT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(264): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(257): Show | 267 | 302 | 0.8841 | 1 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.837+3783dupT | INFO_REALIGN_3_PRIME | |||||
|
chr3:58289322
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(264): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(257): Show | 267 | 302 | 0.8841 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.837+3869G>A | ||||||
|
chr3:58289458
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(265): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(258): Show | 268 | 302 | 0.8874 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.837+4005G>A | ||||||
|
chr3:58289488
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(264): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(257): Show | 267 | 302 | 0.8841 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.837+4035T>C | ||||||
|
chr3:58289842
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(264): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(257): Show | 267 | 302 | 0.8841 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.838-3747A>G | ||||||
|
chr3:58289875
|
C | CT | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00733.hp2 others(136): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(130): Show | 139 | 302 | 0.4603 | 1 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.838-3714_838-3713insT | ||||||
|
chr3:58289904
|
G | A | intron_variant | MODIFIER | HG00544.hp2 HG00733.hp2 HG00738.hp1 others(106): Show |