| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr3:151828253
|
G | A | 0.4546 | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00423.hp1 others(197): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0008 | a0001c0001t0002a0001c0004t0002a0005c0008t0002 | a0001c0001t0002g0002a0001c0001t0002g0003a0001c0001t0002g0006others(63): Show | 200 | 440 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 5/5 | c.*81G>A | 81 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr3:151814438
|
G | A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00423.hp1 others(198): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0008 | a0001c0001t0002a0001c0001t0003a0001c0004t0002others(1): Show | a0001c0001t0002g0002a0001c0001t0002g0003a0001c0001t0002g0006others(64): Show | 201 | 440 | 0.4568 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 1/4 | c.138+138G>A | ||||||
|
chr3:151814442
|
C | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00423.hp1 others(198): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0008 | a0001c0001t0002a0001c0001t0003a0001c0004t0002others(1): Show | a0001c0001t0002g0002a0001c0001t0002g0003a0001c0001t0002g0006others(64): Show | 201 | 440 | 0.4568 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 1/4 | c.138+142C>T | ||||||
|
chr3:151815553
|
T | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00423.hp1 others(197): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0008 | a0001c0001t0002a0001c0004t0002a0005c0008t0002 | a0001c0001t0002g0002a0001c0001t0002g0003a0001c0001t0002g0006others(63): Show | 200 | 440 | 0.4546 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 1/4 | c.138+1253T>C | ||||||
|
chr3:151815669
|
A | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00423.hp1 others(198): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0008 | a0001c0001t0002a0001c0001t0003a0001c0004t0002others(1): Show | a0001c0001t0002g0002a0001c0001t0002g0003a0001c0001t0002g0006others(64): Show | 201 | 440 | 0.4568 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 1/4 | c.138+1369A>C | ||||||
|
chr3:151816801
|
C | A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00423.hp1 others(198): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0008 | a0001c0001t0002a0001c0001t0003a0001c0004t0002others(1): Show | a0001c0001t0002g0002a0001c0001t0002g0003a0001c0001t0002g0006others(64): Show | 201 | 440 | 0.4568 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 1/4 | c.139-565C>A | ||||||
|
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 | ||||||
|
chr3:151817880
|
C | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(215): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0025others(71): Show | 218 | 440 | 0.4955 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 2/4 | c.361+292C>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 | ||||||
|
chr3:151818081
|
C | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(215): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0025others(71): Show | 218 | 440 | 0.4955 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 2/4 | c.361+493C>A | ||||||
|
chr3:151818137
|
G | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(215): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0025others(71): Show | 218 | 440 | 0.4955 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 2/4 | c.361+549G>A | ||||||
|
chr3:151818240
|
CAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(215): Show |
a0001a0003a0005 | a0001c0001a0001c0004a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0025others(71): Show | 218 | 440 | 0.4955 | -2 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 2/4 | c.361+666_361+667delAA | INFO_REALIGN_3_PRIME | |||||
|
chr3:151818266
|
C | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(214): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0025others(70): Show | 217 | 440 | 0.4932 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 2/4 | c.361+678C>T | ||||||
|
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 | ||||||
|
chr3:151818467
|
C | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(215): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0025others(71): Show | 218 | 440 | 0.4955 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 2/4 | c.361+879C>T | ||||||
|
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 | ||||||
|
chr3:151819055
|
A | G | intron_variant | MODIFIER | HG00642.hp1 HG01106.hp2 HG01496.hp2 others(41): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006a0001c0001t0002g0015a0001c0001t0002g0028others(14): Show | 44 | 440 | 0.1000 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 2/4 | c.362-1328A>G | ||||||
|
chr3:151819118
|
T | TAGAG | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(216): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0025others(72): Show | 219 | 440 | 0.4977 | 4 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 2/4 | c.362-1262_362-1261insGAGA | INFO_REALIGN_3_PRIME | |||||
|
chr3:151819559
|
A | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(216): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0025others(72): Show | 219 | 440 | 0.4977 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 2/4 | c.362-824A>C | ||||||
|
chr3:151819576
|
G | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(216): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0025others(72): Show | 219 | 440 | 0.4977 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 2/4 | c.362-807G>A | ||||||
|
chr3:151819794
|
GAA | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(216): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0025others(72): Show | 219 | 440 | 0.4977 | -2 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 2/4 | c.362-585_362-584delAA | INFO_REALIGN_3_PRIME | |||||
|
chr3:151820134
|
T | A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00423.hp1 others(184): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0025others(58): Show | 187 | 440 | 0.4250 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 2/4 | c.362-249T>A | ||||||
|
chr3:151820251
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(216): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0025others(72): Show | 219 | 440 | 0.4977 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 2/4 | c.362-132T>C | ||||||
|
chr3:151820516
|
C | CTTT | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp2 HG00735.hp1 others(66): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0006a0001c0001t0002g0009a0001c0001t0002g0015others(22): Show | 69 | 440 | 0.1568 | 3 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 3/4 | c.431+81_431+83dupTTT | INFO_REALIGN_3_PRIME | |||||
|
chr3:151820690
|
T | TTTTTTTT others(165): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00544.hp1 others(164): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0008 | a0001c0001t0002a0001c0004t0002a0005c0008t0002 | a0001c0001t0002g0002a0001c0001t0002g0003a0001c0001t0002g0006others(43): Show | 167 | 440 | 0.3796 | 172 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 3/4 | c.431+239_431+240insTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGT | INFO_REALIGN_3_PRIME | |||||
|
chr3:151820697
|
C | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(216): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0025others(72): Show | 219 | 440 | 0.4977 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 3/4 | c.431+245C>T | ||||||
|
chr3:151820698
|
G | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(216): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0025others(72): Show | 219 | 440 | 0.4977 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 3/4 | c.431+246G>A | ||||||
|
chr3:151820706
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(216): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0025others(72): Show | 219 | 440 | 0.4977 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 3/4 | c.431+254T>C | ||||||
|
chr3:151820718
|
A | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(216): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0025others(72): Show | 219 | 440 | 0.4977 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 3/4 | c.431+266A>G | ||||||
|
chr3:151820720
|
G | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(216): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0025others(72): Show | 219 | 440 | 0.4977 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 3/4 | c.431+268G>T | ||||||
|
chr3:151820723
|
G | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(216): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0025others(72): Show | 219 | 440 | 0.4977 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 3/4 | c.431+271G>A | ||||||
|
chr3:151820725
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(216): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0025others(72): Show | 219 | 440 | 0.4977 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 3/4 | c.431+273T>C | ||||||
|
chr3:151820727
|
A | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(216): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0025others(72): Show | 219 | 440 | 0.4977 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 3/4 | c.431+275A>G | ||||||
|
chr3:151820730
|
C | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(216): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0025others(72): Show | 219 | 440 | 0.4977 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 3/4 | c.431+278C>A | ||||||
|
chr3:151820731
|
G | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(216): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0025others(72): Show | 219 | 440 | 0.4977 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 3/4 | c.431+279G>T | ||||||
|
chr3:151820732
|
T | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(216): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0025others(72): Show | 219 | 440 | 0.4977 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 3/4 | c.431+280T>G | ||||||
|
chr3:151820737
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(216): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0025others(72): Show | 219 | 440 | 0.4977 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 3/4 | c.431+285T>C | ||||||
|
chr3:151820738
|
A | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(216): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0025others(72): Show | 219 | 440 | 0.4977 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 3/4 | c.431+286A>G | ||||||
|
chr3:151820740
|
A | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(216): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0025others(72): Show | 219 | 440 | 0.4977 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 3/4 | c.431+288A>T | ||||||
|
chr3:151820744
|
C | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(216): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0025others(72): Show | 219 | 440 | 0.4977 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 3/4 | c.431+292C>T | ||||||
|
chr3:151820751
|
CAG | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(216): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0025others(72): Show | 219 | 440 | 0.4977 | -2 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 3/4 | c.431+301_431+302delGA | INFO_REALIGN_3_PRIME | |||||
|
chr3:151820754
|
A | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(216): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0025others(72): Show | 219 | 440 | 0.4977 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 3/4 | c.431+302A>G | ||||||
|
chr3:151820761
|
A | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(216): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0025others(72): Show | 219 | 440 | 0.4977 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 3/4 | c.431+309A>G | ||||||
|
chr3:151820765
|
T | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(216): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0025others(72): Show | 219 | 440 | 0.4977 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 3/4 | c.431+313T>G | ||||||
|
chr3:151820769
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(216): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0025others(72): Show | 219 | 440 | 0.4977 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 3/4 | c.431+317T>C | ||||||
|
chr3:151820773
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(216): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0025others(72): Show | 219 | 440 | 0.4977 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 3/4 | c.431+321T>C | ||||||
|
chr3:151820850
|
C | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(215): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0025others(71): Show | 218 | 440 | 0.4955 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 3/4 | c.431+398C>T | ||||||
|
chr3:151820893
|
C | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(215): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0025others(71): Show | 218 | 440 | 0.4955 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 3/4 | c.431+441C>T | ||||||
|
chr3:151820969
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(215): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0025others(71): Show | 218 | 440 | 0.4955 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 3/4 | c.431+517T>C | ||||||
|
chr3:151821190
|
G | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(215): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0025others(71): Show | 218 | 440 | 0.4955 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 3/4 | c.431+738G>A | ||||||
|
chr3:151821375
|
C | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(215): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0025others(71): Show | 218 | 440 | 0.4955 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 3/4 | c.431+923C>T | ||||||
|
chr3:151821400
|
C | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(215): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0025others(71): Show | 218 | 440 | 0.4955 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 3/4 | c.431+948C>T | ||||||
|
chr3:151821468
|
G | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(215): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0025others(71): Show | 218 | 440 | 0.4955 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 3/4 | c.431+1016G>A | ||||||
|
chr3:151821708
|
G | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(215): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0025others(71): Show | 218 | 440 | 0.4955 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 3/4 | c.431+1256G>A | ||||||
|
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 | ||||||
|
chr3:151823572
|
C | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00423.hp1 others(197): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0008 | a0001c0001t0002a0001c0004t0002a0005c0008t0002 | a0001c0001t0002g0002a0001c0001t0002g0003a0001c0001t0002g0006others(63): Show | 200 | 440 | 0.4546 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 3/4 | c.432-1091C>T | ||||||
|
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 | ||||||
|
chr3:151825455
|
G | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00423.hp1 others(196): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0008 | a0001c0001t0002a0001c0004t0002a0005c0008t0002 | a0001c0001t0002g0002a0001c0001t0002g0003a0001c0001t0002g0006others(62): Show | 199 | 440 | 0.4523 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 4/4 | c.603+621G>T | ||||||
|
chr3:151825507
|
G | A | intron_variant | MODIFIER | HG01884.hp1 HG02572.hp2 HG02723.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0037a0001c0001t0002g0081a0001c0001t0002g0082 | 4 | 440 | 0.0091 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 4/4 | c.603+673G>A | ||||||
|
chr3:151825513
|
A | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(216): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0025others(72): Show | 219 | 440 | 0.4977 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 4/4 | c.603+679A>G | ||||||
|
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 | ||||||
|
chr3:151826583
|
T | C | intron_variant | MODIFIER | HG00642.hp1 HG01106.hp2 HG01496.hp2 others(41): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006a0001c0001t0002g0015a0001c0001t0002g0028others(14): Show | 44 | 440 | 0.1000 | 0 | AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 4/4 | c.604-993T>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
|
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 | |||||
|
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 | 0/0 | t0002 | 364 | 200 | 48 | 40 | 85 | 4 | 23 | copy fasta | chr3 | 151809116 | 151833488 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AADAC | 0/0 | g0037 | 2 | 2 | 0 | 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 | a0001c0001t0002 | 194 | 48 | 35 | 84 | 4 | 23 | 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 | a0001c0001t0002g0037 | 2 | 2 | 0 | 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 | -0.9980 | -0.9980 | -0.9980 | 0.0000 | acceptor | a0001c0001t0002g0037 | HG01884.hp1 HG06807.hp1 |
HG01884.hp1 HG06807.hp1 |
AADAC | chr3 | 151809116 | 151833488 |
| 151817366 | + | 2 | 0.9106 | 0.9106 | 0.9106 | 0.0000 | donor | a0001c0001t0002g0037 | HG01884.hp1 HG06807.hp1 |
HG01884.hp1 HG06807.hp1 |
AADAC | chr3 | 151809116 | 151833488 |
| 151817588 | + | 2 | -0.9889 | -0.9889 | -0.9889 | 0.0000 | acceptor | a0001c0001t0002g0037 | HG01884.hp1 HG06807.hp1 |
HG01884.hp1 HG06807.hp1 |
AADAC | chr3 | 151809116 | 151833488 |
| 151820383 | + | 3 | 0.9977 | 0.9977 | 0.9977 | 0.0000 | donor | a0001c0001t0002g0037 | HG01884.hp1 HG06807.hp1 |
HG01884.hp1 HG06807.hp1 |
AADAC | chr3 | 151809116 | 151833488 |
| 151820452 | + | 3 | -0.9959 | -0.9959 | -0.9959 | 0.0000 | acceptor | a0001c0001t0002g0037 | HG01884.hp1 HG06807.hp1 |
HG01884.hp1 HG06807.hp1 |
AADAC | chr3 | 151809116 | 151833488 |
| 151824663 | + | 4 | 0.9735 | 0.9735 | 0.9735 | 0.0000 | donor | a0001c0001t0002g0037 | HG01884.hp1 HG06807.hp1 |
HG01884.hp1 HG06807.hp1 |
AADAC | chr3 | 151809116 | 151833488 |
| 151824834 | + | 4 | -0.9930 | -0.9930 | -0.9930 | 0.0000 | acceptor | a0001c0001t0002g0037 | HG01884.hp1 HG06807.hp1 |
HG01884.hp1 HG06807.hp1 |
AADAC | chr3 | 151809116 | 151833488 |
| 151827576 | + | 5 | 0.5575 | 0.5575 | 0.5575 | 0.0000 | donor | a0001c0001t0002g0037 | HG01884.hp1 HG06807.hp1 |
HG01884.hp1 HG06807.hp1 |
AADAC | chr3 | 151809116 | 151833488 |
| 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 |
|---|