| geneid | 13 |
|---|---|
| ensemblid | ENSG00000114771.14 |
| hgncid | 17 |
| symbol | AADAC |
| name | arylacetamide deacetylase |
| refseq_nuc | NM_001086.3 |
| refseq_prot | NP_001077.2 |
| ensembl_nuc | ENST00000232892.12 |
| ensembl_prot | ENSP00000232892.6 |
| mane_status | MANE Select |
| chr | chr3 |
| start | 151814116 |
| end | 151828488 |
| strand | + |
| ver | v1.2 |
| region | chr3:151814116-151828488 |
| region5000 | chr3:151809116-151833488 |
| regionname0 | AADAC_chr3_151814116_151828488 |
| regionname5000 | AADAC_chr3_151809116_151833488 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr3:151827813
|
G | A | 0.6796 | missense_variant | MODERATE | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(296): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0014others(101): Show | 299 | 440 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 5/5 | c.841G>A | p.Val281Ile | 888/1563 | 841/1200 | 281/399 |
| 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 |
|---|
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr3:151814425
|
C | A | intron_variant | MODIFIER | HG01109.hp1 HG02630.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 2 | 440 | 0.0046 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 1/4 | c.138+125C>A | ||||||
|
chr3:151815333
|
A | G | intron_variant | MODIFIER | HG00544.hp2 HG00673.hp1 HG00673.hp2 others(77): Show |
a0001a0003a0004 | a0001c0001a0001c0005a0003c0003others(2): Show | a0001c0001t0001a0001c0005t0001a0003c0003t0001others(2): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0014others(26): Show | 80 | 440 | 0.1818 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 1/4 | c.138+1033A>G | ||||||
|
chr3:151815666
|
A | G | intron_variant | MODIFIER | HG00544.hp2 HG00673.hp1 HG00673.hp2 others(77): Show |
a0001a0003a0004 | a0001c0001a0001c0005a0003c0003others(2): Show | a0001c0001t0001a0001c0005t0001a0003c0003t0001others(2): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0014others(26): Show | 80 | 440 | 0.1818 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 1/4 | c.138+1366A>G | ||||||
|
chr3:151817634
|
G | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(295): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0014others(100): Show | 298 | 440 | 0.6773 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 2/4 | c.361+46G>A | ||||||
|
chr3:151817718
|
G | T | intron_variant | MODIFIER | HG00544.hp2 HG00673.hp1 HG00673.hp2 others(77): Show |
a0001a0003a0004 | a0001c0001a0001c0005a0003c0003others(2): Show | a0001c0001t0001a0001c0005t0001a0003c0003t0001others(2): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0014others(26): Show | 80 | 440 | 0.1818 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 2/4 | c.361+130G>T | ||||||
|
chr3:151818070
|
A | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(295): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0014others(100): Show | 298 | 440 | 0.6773 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 2/4 | c.361+482A>G | ||||||
|
chr3:151818240
|
CA | C | intron_variant | MODIFIER | HG00544.hp2 HG00673.hp1 HG00673.hp2 others(73): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0002c0002others(3): Show | a0001c0001t0001a0001c0005t0001a0002c0002t0001others(3): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0014others(24): Show | 76 | 440 | 0.1727 | -1 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 2/4 | c.361+667delA | INFO_REALIGN_3_PRIME | |||||
|
chr3:151818278
|
A | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(295): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0014others(100): Show | 298 | 440 | 0.6773 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 2/4 | c.361+690A>C | ||||||
|
chr3:151818314
|
G | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(295): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0014others(100): Show | 298 | 440 | 0.6773 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 2/4 | c.361+726G>A | ||||||
|
chr3:151818667
|
A | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(296): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0014others(101): Show | 299 | 440 | 0.6796 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 2/4 | c.361+1079A>G | ||||||
|
chr3:151818978
|
A | G | intron_variant | MODIFIER | HG00544.hp2 HG00673.hp1 HG00673.hp2 others(77): Show |
a0001a0003a0004 | a0001c0001a0001c0005a0003c0003others(2): Show | a0001c0001t0001a0001c0005t0001a0003c0003t0001others(2): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0014others(26): Show | 80 | 440 | 0.1818 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 2/4 | c.361+1390A>G | ||||||
|
chr3:151819316
|
C | A | intron_variant | MODIFIER | HG00544.hp2 HG00673.hp1 HG00673.hp2 others(77): Show |
a0001a0003a0004 | a0001c0001a0001c0005a0003c0003others(2): Show | a0001c0001t0001a0001c0005t0001a0003c0003t0001others(2): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0014others(26): Show | 80 | 440 | 0.1818 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 2/4 | c.362-1067C>A | ||||||
|
chr3:151819929
|
C | T | intron_variant | MODIFIER | HG00544.hp2 HG00673.hp1 HG00673.hp2 others(77): Show |
a0001a0003a0004 | a0001c0001a0001c0005a0003c0003others(2): Show | a0001c0001t0001a0001c0005t0001a0003c0003t0001others(2): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0014others(26): Show | 80 | 440 | 0.1818 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 2/4 | c.362-454C>T | ||||||
|
chr3:151819959
|
C | G | intron_variant | MODIFIER | HG01109.hp1 HG02055.hp2 HG02280.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014a0001c0001t0001g0034a0001c0001t0001g0103others(1): Show | 10 | 440 | 0.0227 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 2/4 | c.362-424C>G | ||||||
|
chr3:151820197
|
T | C | intron_variant | MODIFIER | HG00544.hp2 HG00673.hp1 HG00673.hp2 others(77): Show |
a0001a0003a0004 | a0001c0001a0001c0005a0003c0003others(2): Show | a0001c0001t0001a0001c0005t0001a0003c0003t0001others(2): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0014others(26): Show | 80 | 440 | 0.1818 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 2/4 | c.362-186T>C | ||||||
|
chr3:151820516
|
CT | C | intron_variant | MODIFIER | HG00544.hp2 HG00673.hp1 HG00673.hp2 others(75): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(2): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0014others(23): Show | 78 | 440 | 0.1773 | -1 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 3/4 | c.431+83delT | INFO_REALIGN_3_PRIME | |||||
|
chr3:151821027
|
T | A | intron_variant | MODIFIER | HG00544.hp2 HG00673.hp1 HG00673.hp2 others(77): Show |
a0001a0003a0004 | a0001c0001a0001c0005a0003c0003others(2): Show | a0001c0001t0001a0001c0005t0001a0003c0003t0001others(2): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0014others(26): Show | 80 | 440 | 0.1818 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 3/4 | c.431+575T>A | ||||||
|
chr3:151821962
|
T | C | intron_variant | MODIFIER | HG00544.hp2 HG00673.hp1 HG00673.hp2 others(77): Show |
a0001a0003a0004 | a0001c0001a0001c0005a0003c0003others(2): Show | a0001c0001t0001a0001c0005t0001a0003c0003t0001others(2): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0014others(26): Show | 80 | 440 | 0.1818 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 3/4 | c.431+1510T>C | ||||||
|
chr3:151822356
|
A | G | intron_variant | MODIFIER | HG00544.hp2 HG00673.hp1 HG00673.hp2 others(77): Show |
a0001a0003a0004 | a0001c0001a0001c0005a0003c0003others(2): Show | a0001c0001t0001a0001c0005t0001a0003c0003t0001others(2): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0014others(26): Show | 80 | 440 | 0.1818 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 3/4 | c.431+1904A>G | ||||||
|
chr3:151822902
|
G | A | intron_variant | MODIFIER | HG00544.hp2 HG00673.hp1 HG00673.hp2 others(77): Show |
a0001a0003a0004 | a0001c0001a0001c0005a0003c0003others(2): Show | a0001c0001t0001a0001c0005t0001a0003c0003t0001others(2): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0014others(26): Show | 80 | 440 | 0.1818 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 3/4 | c.432-1761G>A | ||||||
|
chr3:151823232
|
T | C | intron_variant | MODIFIER | HG00544.hp2 HG00673.hp1 HG00673.hp2 others(77): Show |
a0001a0003a0004 | a0001c0001a0001c0005a0003c0003others(2): Show | a0001c0001t0001a0001c0005t0001a0003c0003t0001others(2): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0014others(26): Show | 80 | 440 | 0.1818 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 3/4 | c.432-1431T>C | ||||||
|
chr3:151823275
|
CT | C | intron_variant | MODIFIER | HG00544.hp2 HG00673.hp1 HG00673.hp2 others(77): Show |
a0001a0003a0004 | a0001c0001a0001c0005a0003c0003others(2): Show | a0001c0001t0001a0001c0005t0001a0003c0003t0001others(2): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0014others(26): Show | 80 | 440 | 0.1818 | -1 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 3/4 | c.432-1387delT | ||||||
|
chr3:151823281
|
G | C | intron_variant | MODIFIER | HG00544.hp2 HG00673.hp1 HG00673.hp2 others(77): Show |
a0001a0003a0004 | a0001c0001a0001c0005a0003c0003others(2): Show | a0001c0001t0001a0001c0005t0001a0003c0003t0001others(2): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0014others(26): Show | 80 | 440 | 0.1818 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 3/4 | c.432-1382G>C | ||||||
|
chr3:151823283
|
A | C | intron_variant | MODIFIER | HG00544.hp2 HG00673.hp1 HG00673.hp2 others(77): Show |
a0001a0003a0004 | a0001c0001a0001c0005a0003c0003others(2): Show | a0001c0001t0001a0001c0005t0001a0003c0003t0001others(2): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0014others(26): Show | 80 | 440 | 0.1818 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 3/4 | c.432-1380A>C | ||||||
|
chr3:151823495
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(296): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0014others(101): Show | 299 | 440 | 0.6796 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 3/4 | c.432-1168T>C | ||||||
|
chr3:151823868
|
A | AT | intron_variant | MODIFIER | HG00544.hp2 HG00673.hp1 HG00673.hp2 others(77): Show |
a0001a0003a0004 | a0001c0001a0001c0005a0003c0003others(2): Show | a0001c0001t0001a0001c0005t0001a0003c0003t0001others(2): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0014others(26): Show | 80 | 440 | 0.1818 | 1 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 3/4 | c.432-788dupT | INFO_REALIGN_3_PRIME | |||||
|
chr3:151824620
|
AAAAC | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(295): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0014others(100): Show | 298 | 440 | 0.6773 | -4 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 3/4 | c.432-35_432-32delCAAA | INFO_REALIGN_3_PRIME | |||||
|
chr3:151824949
|
G | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(296): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0014others(101): Show | 299 | 440 | 0.6796 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 4/4 | c.603+115G>A | ||||||
|
chr3:151824961
|
CTATT | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(295): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0014others(100): Show | 298 | 440 | 0.6773 | -4 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 4/4 | c.603+128_603+131delTATT | ||||||
|
chr3:151825041
|
C | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(296): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0014others(101): Show | 299 | 440 | 0.6796 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 4/4 | c.603+207C>T | ||||||
|
chr3:151825187
|
C | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(296): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0014others(101): Show | 299 | 440 | 0.6796 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 4/4 | c.603+353C>A | ||||||
|
chr3:151825848
|
T | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(296): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0014others(101): Show | 299 | 440 | 0.6796 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 4/4 | c.603+1014T>G | ||||||
|
chr3:151826009
|
AT | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(296): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0014others(101): Show | 299 | 440 | 0.6796 | -1 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 4/4 | c.603+1180delT | INFO_REALIGN_3_PRIME | |||||
|
chr3:151826048
|
C | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(296): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0014others(101): Show | 299 | 440 | 0.6796 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 4/4 | c.603+1214C>A | ||||||
|
chr3:151826514
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(296): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0014others(101): Show | 299 | 440 | 0.6796 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 4/4 | c.604-1062T>C | ||||||
|
chr3:151826606
|
A | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(296): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0014others(101): Show | 299 | 440 | 0.6796 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 4/4 | c.604-970A>G | ||||||
|
chr3:151827031
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(296): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0014others(101): Show | 299 | 440 | 0.6796 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 4/4 | c.604-545T>C | ||||||
|
chr3:151827034
|
C | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(296): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0014others(101): Show | 299 | 440 | 0.6796 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 4/4 | c.604-542C>A | ||||||
|
chr3:151827134
|
A | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(296): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0014others(101): Show | 299 | 440 | 0.6796 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 4/4 | c.604-442A>G | ||||||
|
chr3:151827158
|
C | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(296): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0014others(101): Show | 299 | 440 | 0.6796 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 4/4 | c.604-418C>T | ||||||
|
chr3:151827448
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TAA | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(296): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0014others(101): Show | 299 | 440 | 0.6796 | -2 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 4/4 | c.604-127_604-126delAA | ||||||
|
chr3:151827530
|
A | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(296): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0014others(101): Show | 299 | 440 | 0.6796 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 4/4 | c.604-46A>T | ||||||
|
chr3:151827533
|
GT | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(296): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0014others(101): Show | 299 | 440 | 0.6796 | -1 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 4/4 | c.604-39delT | INFO_REALIGN_3_PRIME | |||||
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chr3:151827535
|
T | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(296): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0014others(101): Show | 299 | 440 | 0.6796 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 4/4 | c.604-41T>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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AADAC | 0/1 | a0001 | 399 | 290 | 68 | 58 | 118 | 12 | 33 | subcellular location copy fasta | chr3 | 151809116 | 151833488 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AADAC | 0/1 | c0001 | 1200 | 282 | 65 | 53 | 118 | 12 | 33 | copy fasta | chr3 | 151809116 | 151833488 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AADAC | 1/0 | t0001 | 364 | 235 | 46 | 39 | 120 | 13 | 16 | copy fasta | chr3 | 151809116 | 151833488 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AADAC | 0/0 | g0034 | 2 | 1 | 1 | 0 | 0 | 0 | chr3 | 151809116 | 151833488 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AADAC | 0/1 | a0001c0001 | 282 | 65 | 53 | 118 | 12 | 33 | 1200 | copy fasta | chr3 | 151809116 | 151833488 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AADAC | 0/0 | a0001c0001t0001 | 86 | 17 | 18 | 34 | 8 | 9 | 1563 | copy fasta | chr3 | 151809116 | 151833488 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AADAC | 0/0 | a0001c0001t0001g0034 | 2 | 1 | 1 | 0 | 0 | 0 | chr3 | 151809116 | 151833488 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 151814300 | + | 1 | -0.9978 | -0.9978 | -0.9978 | 0.0000 | acceptor | a0001c0001t0001g0034 | HG01109.hp1 HG02630.hp1 |
HG01109.hp1 HG02630.hp1 |
AADAC | chr3 | 151809116 | 151833488 |
| 151817366 | + | 2 | 0.8959 | 0.8959 | 0.8959 | 0.0000 | donor | a0001c0001t0001g0034 | HG01109.hp1 HG02630.hp1 |
HG01109.hp1 HG02630.hp1 |
AADAC | chr3 | 151809116 | 151833488 |
| 151817588 | + | 2 | -0.9895 | -0.9895 | -0.9895 | 0.0000 | acceptor | a0001c0001t0001g0034 | HG01109.hp1 HG02630.hp1 |
HG01109.hp1 HG02630.hp1 |
AADAC | chr3 | 151809116 | 151833488 |
| 151820383 | + | 3 | 0.9974 | 0.9974 | 0.9974 | 0.0000 | donor | a0001c0001t0001g0034 | HG01109.hp1 HG02630.hp1 |
HG01109.hp1 HG02630.hp1 |
AADAC | chr3 | 151809116 | 151833488 |
| 151820452 | + | 3 | -0.9973 | -0.9973 | -0.9973 | 0.0000 | acceptor | a0001c0001t0001g0034 | HG01109.hp1 HG02630.hp1 |
HG01109.hp1 HG02630.hp1 |
AADAC | chr3 | 151809116 | 151833488 |
| 151824663 | + | 4 | 0.9676 | 0.9676 | 0.9676 | 0.0000 | donor | a0001c0001t0001g0034 | HG01109.hp1 HG02630.hp1 |
HG01109.hp1 HG02630.hp1 |
AADAC | chr3 | 151809116 | 151833488 |
| 151824834 | + | 4 | -0.9922 | -0.9922 | -0.9922 | 0.0000 | acceptor | a0001c0001t0001g0034 | HG01109.hp1 HG02630.hp1 |
HG01109.hp1 HG02630.hp1 |
AADAC | chr3 | 151809116 | 151833488 |
| 151827576 | + | 5 | 0.5432 | 0.5428 | 0.5423 | 0.0009 | donor | a0001c0001t0001g0034 | HG01109.hp1 | HG02630.hp1 | AADAC | chr3 | 151809116 | 151833488 |
| pos | annotationhgvs_chgvs_p | clinvarid | clnsig | geneinfo | mc | clndisdb | strand strand
|
ahapid ahapid_count
|
chapid chapid count
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thapid thapid_count
|
ghapid ghapid_count
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AHAPIDS ahapids
|
ACHAPIDS achapids
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ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
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haplotypeids haplotypeids
|
impact | chr | ref | alt | external |
|---|
| CHR:POS | annotationhgvs_chgvs_p | disease trait-log10podds or beta | AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
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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 |
|---|