| geneid | 51205 |
|---|---|
| ensemblid | ENSG00000162836.12 |
| hgncid | 29609 |
| symbol | ACP6 |
| name | acid phosphatase 6, lysophosphatidic |
| refseq_nuc | NM_016361.5 |
| refseq_prot | NP_057445.4 |
| ensembl_nuc | ENST00000583509.7 |
| ensembl_prot | ENSP00000463574.1 |
| mane_status | MANE Select |
| chr | chr1 |
| start | 147642230 |
| end | 147670524 |
| strand | - |
| ver | v1.2 |
| region | chr1:147642230-147670524 |
| region5000 | chr1:147637230-147675524 |
| regionname0 | ACP6_chr1_147642230_147670524 |
| regionname5000 | ACP6_chr1_147637230_147675524 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr1:147647471
|
G | A | 0.4505 | synonymous_variant | LOW | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(179): Show |
a0001a0003a0005 | a0001c0001a0001c0008a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(24): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0017others(74): Show | 182 | 404 | 0 | ACP6 | ENSG00000162836.12 | transcript | ENST00000583509.7 | protein_coding | 10/10 | c.1239C>T | p.His413His | 1715/6956 | 1239/1287 | 413/428 | ||
|
chr1:147652507
|
T | G | 0.7129 | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(285): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0003a0001c0007others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(50): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0017others(126): Show | 288 | 404 | 0 | ACP6 | ENSG00000162836.12 | transcript | ENST00000583509.7 | protein_coding | 7/10 | c.823A>C | p.Arg275Arg | 1299/6956 | 823/1287 | 275/428 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr1:147642485
|
T | TA | 0.7203 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(288): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(50): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0017others(123): Show | 291 | 404 | 1 | ACP6 | ENSG00000162836.12 | transcript | ENST00000583509.7 | protein_coding | 10/10 | c.*4937dupT | 4937 | |||||
|
chr1:147642503
|
G | A | 0.4332 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(172): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(24): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0017others(69): Show | 175 | 404 | 0 | ACP6 | ENSG00000162836.12 | transcript | ENST00000583509.7 | protein_coding | 10/10 | c.*4920C>T | 4920 | |||||
|
chr1:147644981
|
C | CTT | 0.9654 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(387): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(58): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0017others(169): Show | 390 | 404 | 2 | ACP6 | ENSG00000162836.12 | transcript | ENST00000583509.7 | protein_coding | 10/10 | c.*2440_*2441dupAA | 2441 | |||||
|
chr1:147646379
|
T | C | 0.4876 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(194): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(29): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0017others(81): Show | 197 | 404 | 0 | ACP6 | ENSG00000162836.12 | transcript | ENST00000583509.7 | protein_coding | 10/10 | c.*1044A>G | 1044 | |||||
|
chr1:147670174
|
T | C | 0.5668 | 5_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(226): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0012others(37): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0017others(98): Show | 229 | 404 | 0 | ACP6 | ENSG00000162836.12 | transcript | ENST00000583509.7 | protein_coding | 1/10 | c.-126A>G | 126 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr1:147649451
|
A | AT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(394): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(65): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0017others(178): Show | 397 | 404 | 0.9827 | 1 | ACP6 | ENSG00000162836.12 | transcript | ENST00000583509.7 | protein_coding | 8/9 | c.977+691dupA | ||||||
|
chr1:147652753
|
G | GAAA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(316): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(54): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0017others(145): Show | 319 | 404 | 0.7896 | 3 | ACP6 | ENSG00000162836.12 | transcript | ENST00000583509.7 | protein_coding | 6/9 | c.781-207_781-205dupTTT | ||||||
|
chr1:147652837
|
G | GT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(389): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(66): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0017others(171): Show | 392 | 404 | 0.9703 | 1 | ACP6 | ENSG00000162836.12 | transcript | ENST00000583509.7 | protein_coding | 6/9 | c.781-289dupA | ||||||
|
chr1:147652919
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(285): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0003a0001c0007others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(50): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0017others(126): Show | 288 | 404 | 0.7129 | 0 | ACP6 | ENSG00000162836.12 | transcript | ENST00000583509.7 | protein_coding | 6/9 | c.781-370A>G | ||||||
|
chr1:147653119
|
G | GCCTGGCC others(299): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00438.hp2 others(107): Show |
a0001a0003a0005 | a0001c0001a0001c0003a0001c0008others(3): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(14): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0017others(40): Show | 110 | 404 | 0.2723 | 306 | ACP6 | ENSG00000162836.12 | transcript | ENST00000583509.7 | protein_coding | 6/9 | c.781-571_781-570insTGCGGTGGCTCACACCTGTAATCCCAGCAATTTGGGAGGCCGAGAAGGGTGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGACAGGAAAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAGATCACGCCACTGCATTCCAACCTGGGTGACAGGGCAAGACTCCATCTCAAAAAAAAAAAAACCAGTAAAACAGGCCAGG | ||||||
|
chr1:147653122
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(286): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(51): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0017others(127): Show | 289 | 404 | 0.7154 | 0 | ACP6 | ENSG00000162836.12 | transcript | ENST00000583509.7 | protein_coding | 6/9 | c.781-573G>A | ||||||
|
chr1:147653443
|
T | TAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(396): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(65): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0017others(178): Show | 399 | 404 | 0.9876 | 2 | ACP6 | ENSG00000162836.12 | transcript | ENST00000583509.7 | protein_coding | 6/9 | c.780+749_780+750dupTT | ||||||
|
chr1:147655487
|
G | A | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00438.hp2 others(112): Show |
a0001a0003a0005 | a0001c0001a0001c0003a0001c0008others(3): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(16): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0017others(45): Show | 115 | 404 | 0.2847 | 0 | ACP6 | ENSG00000162836.12 | transcript | ENST00000583509.7 | protein_coding | 4/9 | c.560-239C>T | ||||||
|
chr1:147656899
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(298): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(54): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0017others(132): Show | 301 | 404 | 0.7451 | 0 | ACP6 | ENSG00000162836.12 | transcript | ENST00000583509.7 | protein_coding | 4/9 | c.560-1651C>T | ||||||
|
chr1:147657466
|
G | C | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00438.hp2 others(113): Show |
a0001a0003a0005 | a0001c0001a0001c0003a0001c0008others(3): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(17): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0017others(46): Show | 116 | 404 | 0.2871 | 0 | ACP6 | ENSG00000162836.12 | transcript | ENST00000583509.7 | protein_coding | 4/9 | c.559+1494C>G | ||||||
|
chr1:147657671
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(297): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(54): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0017others(131): Show | 300 | 404 | 0.7426 | 0 | ACP6 | ENSG00000162836.12 | transcript | ENST00000583509.7 | protein_coding | 4/9 | c.559+1289T>C | ||||||
|
chr1:147659350
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(280): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(50): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0017others(123): Show | 283 | 404 | 0.7005 | 0 | ACP6 | ENSG00000162836.12 | transcript | ENST00000583509.7 | protein_coding | 3/9 | c.479+46A>G | ||||||
|
chr1:147659830
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(280): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(50): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0017others(123): Show | 283 | 404 | 0.7005 | 0 | ACP6 | ENSG00000162836.12 | transcript | ENST00000583509.7 | protein_coding | 1/9 | c.220-55A>G | ||||||
|
chr1:147661164
|
G | A | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00438.hp2 others(102): Show |
a0001a0005 | a0001c0001a0001c0003a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(15): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0017others(39): Show | 105 | 404 | 0.2599 | 0 | ACP6 | ENSG00000162836.12 | transcript | ENST00000583509.7 | protein_coding | 1/9 | c.220-1389C>T | ||||||
|
chr1:147661315
|
A | AT | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(239): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(47): Show | a0001c0001t0001g0001a0001c0001t0001g0017a0001c0001t0001g0043others(113): Show | 242 | 404 | 0.5990 | 1 | ACP6 | ENSG00000162836.12 | transcript | ENST00000583509.7 | protein_coding | 1/9 | c.220-1541dupA | ||||||
|
chr1:147661337
|
G | A | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00438.hp2 others(105): Show |
a0001a0003a0005 | a0001c0001a0001c0003a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(18): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0017others(42): Show | 108 | 404 | 0.2673 | 0 | ACP6 | ENSG00000162836.12 | transcript | ENST00000583509.7 | protein_coding | 1/9 | c.220-1562C>T | ||||||
|
chr1:147663290
|
G | GC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(291): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(52): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0017others(127): Show | 294 | 404 | 0.7277 | 1 | ACP6 | ENSG00000162836.12 | transcript | ENST00000583509.7 | protein_coding | 1/9 | c.220-3516_220-3515insG | ||||||
|
chr1:147663587
|
C | T | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00438.hp2 others(99): Show |
a0001a0003a0005 | a0001c0001a0001c0003a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0011others(17): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0017others(39): Show | 102 | 404 | 0.2525 | 0 | ACP6 | ENSG00000162836.12 | transcript | ENST00000583509.7 | protein_coding | 1/9 | c.220-3812G>A | ||||||
|
chr1:147663916
|
C | CA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(400): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(67): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0017others(182): Show | 403 | 404 | 0.9975 | 1 | ACP6 | ENSG00000162836.12 | transcript | ENST00000583509.7 | protein_coding | 1/9 | c.220-4142dupT | ||||||
|
chr1:147666691
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(223): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0012others(38): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0017others(98): Show | 226 | 404 | 0.5594 | 0 | ACP6 | ENSG00000162836.12 | transcript | ENST00000583509.7 | protein_coding | 1/9 | c.219+3139G>A | ||||||
|
chr1:147666777
|
G | A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00423.hp2 others(116): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0016others(15): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0017others(46): Show | 119 | 404 | 0.2946 | 0 | ACP6 | ENSG00000162836.12 | transcript | ENST00000583509.7 | protein_coding | 1/9 | c.219+3053C>T | ||||||
|
chr1:147667224
|
G | GT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(400): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(67): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0017others(182): Show | 403 | 404 | 0.9975 | 1 | ACP6 | ENSG00000162836.12 | transcript | ENST00000583509.7 | protein_coding | 1/9 | c.219+2605dupA | ||||||
|
chr1:147667786
|
T | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(223): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0012others(38): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0017others(98): Show | 226 | 404 | 0.5594 | 0 | ACP6 | ENSG00000162836.12 | transcript | ENST00000583509.7 | protein_coding | 1/9 | c.219+2044A>C | ||||||
|
chr1:147667931
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(237): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0012others(42): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0017others(104): Show | 240 | 404 | 0.5941 | 0 | ACP6 | ENSG00000162836.12 | transcript | ENST00000583509.7 | protein_coding | 1/9 | c.219+1899C>T | ||||||
|
chr1:147667988
|
C | CA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(396): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(66): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0017others(178): Show | 399 | 404 | 0.9876 | 1 | ACP6 | ENSG00000162836.12 | transcript | ENST00000583509.7 | protein_coding | 1/9 | c.219+1841dupT | ||||||
|
chr1:147668334
|
G | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00423.hp2 others(124): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0016others(21): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0017others(53): Show | 127 | 404 | 0.3144 | 0 | ACP6 | ENSG00000162836.12 | transcript | ENST00000583509.7 | protein_coding | 1/9 | c.219+1496C>G | ||||||
|
chr1:147668415
|
GAT | G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00423.hp2 others(121): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0016others(18): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0017others(50): Show | 124 | 404 | 0.3069 | -2 | ACP6 | ENSG00000162836.12 | transcript | ENST00000583509.7 | protein_coding | 1/9 | c.219+1413_219+1414delAT | ||||||
|
chr1:147669271
|
C | CA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(398): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(66): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0017others(181): Show | 401 | 404 | 0.9926 | 1 | ACP6 | ENSG00000162836.12 | transcript | ENST00000583509.7 | protein_coding | 1/9 | c.219+558dupT | ||||||
|
chr1:147669688
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(225): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0012others(39): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0017others(99): Show | 228 | 404 | 0.5644 | 0 | ACP6 | ENSG00000162836.12 | transcript | ENST00000583509.7 | protein_coding | 1/9 | c.219+142G>A |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACP6 | 1/1 | a0001 | 428 | 387 | 76 | 61 | 194 | 14 | 40 | subcellular location copy fasta | chr1 | 147637230 | 147675524 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACP6 | 0/1 | c0001 | 1287 | 177 | 38 | 34 | 79 | 8 | 17 | copy fasta | chr1 | 147637230 | 147675524 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACP6 | 0/0 | t0001 | 5673 | 75 | 20 | 12 | 36 | 2 | 5 | copy fasta | chr1 | 147637230 | 147675524 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| ACP6 | 0/0 | g0001 | 37 | 2 | 9 | 21 | 2 | 3 | chr1 | 147637230 | 147675524 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACP6 | 0/1 | a0001c0001 | 177 | 38 | 34 | 79 | 8 | 17 | 1287 | copy fasta | chr1 | 147637230 | 147675524 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACP6 | 0/0 | a0001c0001t0001 | 71 | 18 | 12 | 34 | 2 | 5 | 6959 | copy fasta | chr1 | 147637230 | 147675524 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| ACP6 | 0/0 | a0001c0001t0001g0001 | 37 | 2 | 9 | 21 | 2 | 3 | chr1 | 147637230 | 147675524 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 147669830 | - | 1 | -0.9652 | -0.9645 | -0.9641 | 0.0011 | acceptor | a0001c0001t0001g0001 | HG00423.hp2 | HG01975.hp2 | ACP6 | chr1 | 147637230 | 147675524 |
| 147659647 | - | 2 | -0.9980 | -0.9980 | -0.9980 | 0.0000 | acceptor | a0001c0001t0001g0001 | HG00323.hp2 HG00423.hp2 HG00544.hp1 HG01123.hp1 HG01167.hp2 others(32): Show |
HG00323.hp2 HG00423.hp2 HG00544.hp1 HG01123.hp1 HG01167.hp2 others(32): Show |
ACP6 | chr1 | 147637230 | 147675524 |
| 147659775 | - | 2 | 0.9889 | 0.9889 | 0.9889 | 0.0000 | donor | a0001c0001t0001g0001 | HG00323.hp2 HG00423.hp2 HG00544.hp1 HG01123.hp1 HG01167.hp2 others(32): Show |
HG00323.hp2 HG00423.hp2 HG00544.hp1 HG01123.hp1 HG01167.hp2 others(32): Show |
ACP6 | chr1 | 147637230 | 147675524 |
| 147659396 | - | 3 | -0.8971 | -0.8971 | -0.8971 | 0.0000 | acceptor | a0001c0001t0001g0001 | HG00323.hp2 HG00423.hp2 HG00544.hp1 HG01123.hp1 HG01167.hp2 others(32): Show |
HG00323.hp2 HG00423.hp2 HG00544.hp1 HG01123.hp1 HG01167.hp2 others(32): Show |
ACP6 | chr1 | 147637230 | 147675524 |
| 147659526 | - | 3 | 0.9781 | 0.9781 | 0.9781 | 0.0000 | donor | a0001c0001t0001g0001 | HG00323.hp2 HG00423.hp2 HG00544.hp1 HG01123.hp1 HG01167.hp2 others(32): Show |
HG00323.hp2 HG00423.hp2 HG00544.hp1 HG01123.hp1 HG01167.hp2 others(32): Show |
ACP6 | chr1 | 147637230 | 147675524 |
| 147658960 | - | 4 | -0.9176 | -0.9176 | -0.9176 | 0.0000 | acceptor | a0001c0001t0001g0001 | HG00323.hp2 HG00423.hp2 HG00544.hp1 HG01123.hp1 HG01167.hp2 others(32): Show |
HG00323.hp2 HG00423.hp2 HG00544.hp1 HG01123.hp1 HG01167.hp2 others(32): Show |
ACP6 | chr1 | 147637230 | 147675524 |
| 147659039 | - | 4 | 0.9232 | 0.9232 | 0.9232 | 0.0000 | donor | a0001c0001t0001g0001 | HG00323.hp2 HG00423.hp2 HG00544.hp1 HG01123.hp1 HG01167.hp2 others(32): Show |
HG00323.hp2 HG00423.hp2 HG00544.hp1 HG01123.hp1 HG01167.hp2 others(32): Show |
ACP6 | chr1 | 147637230 | 147675524 |
| 147655161 | - | 5 | -0.9947 | -0.9947 | -0.9947 | 0.0000 | acceptor | a0001c0001t0001g0001 | HG00323.hp2 HG00423.hp2 HG00544.hp1 HG01123.hp1 HG01167.hp2 others(32): Show |
HG00323.hp2 HG00423.hp2 HG00544.hp1 HG01123.hp1 HG01167.hp2 others(32): Show |
ACP6 | chr1 | 147637230 | 147675524 |
| 147655248 | - | 5 | 0.9934 | 0.9934 | 0.9934 | 0.0000 | donor | a0001c0001t0001g0001 | HG00323.hp2 HG00423.hp2 HG00544.hp1 HG01123.hp1 HG01167.hp2 others(32): Show |
HG00323.hp2 HG00423.hp2 HG00544.hp1 HG01123.hp1 HG01167.hp2 others(32): Show |
ACP6 | chr1 | 147637230 | 147675524 |
| 147654194 | - | 6 | -0.9997 | -0.9997 | -0.9997 | 0.0000 | acceptor | a0001c0001t0001g0001 | HG00323.hp2 HG00423.hp2 HG00544.hp1 HG01123.hp1 HG01167.hp2 others(32): Show |
HG00323.hp2 HG00423.hp2 HG00544.hp1 HG01123.hp1 HG01167.hp2 others(32): Show |
ACP6 | chr1 | 147637230 | 147675524 |
| 147654326 | - | 6 | 0.9972 | 0.9972 | 0.9972 | 0.0000 | donor | a0001c0001t0001g0001 | HG00323.hp2 HG00423.hp2 HG00544.hp1 HG01123.hp1 HG01167.hp2 others(32): Show |
HG00323.hp2 HG00423.hp2 HG00544.hp1 HG01123.hp1 HG01167.hp2 others(32): Show |
ACP6 | chr1 | 147637230 | 147675524 |
| 147652449 | - | 7 | -0.9475 | -0.9475 | -0.9475 | 0.0000 | acceptor | a0001c0001t0001g0001 | HG00323.hp2 HG00423.hp2 HG00544.hp1 HG01123.hp1 HG01167.hp2 others(32): Show |
HG00323.hp2 HG00423.hp2 HG00544.hp1 HG01123.hp1 HG01167.hp2 others(32): Show |
ACP6 | chr1 | 147637230 | 147675524 |
| 147652549 | - | 7 | 0.6562 | 0.6562 | 0.6562 | 0.0000 | donor | a0001c0001t0001g0001 | HG00323.hp2 HG00423.hp2 HG00544.hp1 HG01123.hp1 HG01167.hp2 others(32): Show |
HG00323.hp2 HG00423.hp2 HG00544.hp1 HG01123.hp1 HG01167.hp2 others(32): Show |
ACP6 | chr1 | 147637230 | 147675524 |
| 147650143 | - | 8 | -0.9858 | -0.9858 | -0.9858 | 0.0000 | acceptor | a0001c0001t0001g0001 | HG00323.hp2 HG00423.hp2 HG00544.hp1 HG01123.hp1 HG01167.hp2 others(32): Show |
HG00323.hp2 HG00423.hp2 HG00544.hp1 HG01123.hp1 HG01167.hp2 others(32): Show |
ACP6 | chr1 | 147637230 | 147675524 |
| 147650238 | - | 8 | 0.9774 | 0.9774 | 0.9774 | 0.0000 | donor | a0001c0001t0001g0001 | HG00323.hp2 HG00423.hp2 HG00544.hp1 HG01123.hp1 HG01167.hp2 others(32): Show |
HG00323.hp2 HG00423.hp2 HG00544.hp1 HG01123.hp1 HG01167.hp2 others(32): Show |
ACP6 | chr1 | 147637230 | 147675524 |
| 147648246 | - | 9 | -0.7073 | -0.7073 | -0.7073 | 0.0000 | acceptor | a0001c0001t0001g0001 | HG00323.hp2 HG00423.hp2 HG00544.hp1 HG01123.hp1 HG01167.hp2 others(32): Show |
HG00323.hp2 HG00423.hp2 HG00544.hp1 HG01123.hp1 HG01167.hp2 others(32): Show |
ACP6 | chr1 | 147637230 | 147675524 |
| 147648411 | - | 9 | 0.5626 | 0.5626 | 0.5626 | 0.0000 | donor | a0001c0001t0001g0001 | HG00323.hp2 HG00423.hp2 HG00544.hp1 HG01123.hp1 HG01167.hp2 others(32): Show |
HG00323.hp2 HG00423.hp2 HG00544.hp1 HG01123.hp1 HG01167.hp2 others(32): Show |
ACP6 | chr1 | 147637230 | 147675524 |
| 147647566 | - | 10 | 0.0884 | 0.0884 | 0.0884 | 0.0000 | donor | a0001c0001t0001g0001 | HG00323.hp2 HG00423.hp2 HG00544.hp1 HG01123.hp1 HG01167.hp2 others(32): Show |
HG00323.hp2 HG00423.hp2 HG00544.hp1 HG01123.hp1 HG01167.hp2 others(32): Show |
ACP6 | chr1 | 147637230 | 147675524 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr1:147652507
|
c.823A>Cp.Arg275Arg |
Blood protein levels0.9444 others(4): Show |
a0001a0003a0004a0005 | a0001c0001a0001c0003a0001c0007a0001c0008a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008a0001c0001t0009a0001c0001t0010others(48): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0017a0001c0001t0001g0029a0001c0001t0001g0043others(124): Show | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00323.hp2 others(283): Show |
Co-regulatory networks of human serum proteins lin others(22): Show |
3,200 European ancestry individuals/ | ACP6 | ACP6 | rs2153463-G | - | LOW | chr1 | T | G |
|
chr1:147652507
|
c.823A>Cp.Arg275Arg |
Lysophosphatidic acid phosphatase type 6 levels others(9): Show |
a0001a0003a0004a0005 | a0001c0001a0001c0003a0001c0007a0001c0008a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008a0001c0001t0009a0001c0001t0010others(48): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0017a0001c0001t0001g0029a0001c0001t0001g0043others(124): Show | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00323.hp2 others(283): Show |
Proteogenomic analysis of human cerebrospinal flui others(103): Show |
3,506 European ancestry individuals/ | ACP6 | rs2153463-T | - | LOW | chr1 | T | G | |
|
chr1:147652507
|
c.823A>Cp.Arg275Arg |
Lysophosphatidic acid phosphatase type 6 levels others(7): Show |
a0001a0003a0004a0005 | a0001c0001a0001c0003a0001c0007a0001c0008a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008a0001c0001t0009a0001c0001t0010others(48): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0017a0001c0001t0001g0029a0001c0001t0001g0043others(124): Show | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00323.hp2 others(283): Show |
Mapping the proteo-genomic convergence of human di others(7): Show |
10,708 European ancestry individuals/ | ACP6 | rs2153463-T | - | LOW | chr1 | T | G | |
|
chr1:147652507
|
c.823A>Cp.Arg275Arg |
Lysophosphatidic acid phosphatase type 6 level in Chronic kidney disease with hypertension and no di others(80): Show |
a0001a0003a0004a0005 | a0001c0001a0001c0003a0001c0007a0001c0008a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008a0001c0001t0009a0001c0001t0010others(48): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0017a0001c0001t0001g0029a0001c0001t0001g0043others(124): Show | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00323.hp2 others(283): Show |
Identification of 969 protein quantitative trait l others(85): Show |
466 African American individuals/ | ACP6 | rs2153463-G | - | LOW | chr1 | T | G | |
|
chr1:147656899
|
c.560-1651C>T | X-24748 levels0.11 | a0001a0002a0003a0004a0005 | a0001c0001a0001c0002a0001c0003a0001c0007a0001c0008others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008a0001c0001t0009a0001c0001t0010others(52): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0017a0001c0001t0001g0029a0001c0001t0001g0043others(130): Show | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00323.hp2 others(296): Show |
Metabolome Genome-Wide Association Study Identifie others(65): Show |
8,809 European ancestry individuals/ | ACP6 | rs12119079-G | - | MODIFIER | chr1 | G | A | |
|
chr1:147659350
|
c.479+46A>G | X-24747 levels0.293 | a0001a0003a0004a0005 | a0001c0001a0001c0002a0001c0003a0001c0007a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008a0001c0001t0009a0001c0001t0010others(48): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0017a0001c0001t0001g0029a0001c0001t0001g0043others(121): Show | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00323.hp2 others(278): Show |
Metabolome Genome-Wide Association Study Identifie others(65): Show |
8,809 European ancestry individuals/ | ACP6 | rs6674938-T | - | MODIFIER | chr1 | T | C | |
|
chr1:147657671
|
c.559+1289T>C | X-24748 levels0.111 | a0001a0002a0003a0004a0005 | a0001c0001a0001c0002a0001c0003a0001c0007a0001c0008others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008a0001c0001t0009a0001c0001t0010others(52): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0017a0001c0001t0001g0029a0001c0001t0001g0043others(129): Show | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00323.hp2 others(295): Show |
Metabolome Genome-Wide Association Study Identifie others(65): Show |
8,809 European ancestry individuals/ | ACP6 | rs12145385-A | - | MODIFIER | chr1 | A | G | |
|
chr1:147656899
|
c.560-1651C>T | X-24309 levels0.114 | a0001a0002a0003a0004a0005 | a0001c0001a0001c0002a0001c0003a0001c0007a0001c0008others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008a0001c0001t0009a0001c0001t0010others(52): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0017a0001c0001t0001g0029a0001c0001t0001g0043others(130): Show | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00323.hp2 others(296): Show |
Metabolome Genome-Wide Association Study Identifie others(65): Show |
8,809 European ancestry individuals/ | ACP6 | rs12119079-G | - | MODIFIER | chr1 | G | A | |
|
chr1:147652507
|
c.823A>Cp.Arg275Arg | X-24309 levels0.14723216 | a0001a0003a0004a0005 | a0001c0001a0001c0003a0001c0007a0001c0008a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008a0001c0001t0009a0001c0001t0010others(48): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0017a0001c0001t0001g0029a0001c0001t0001g0043others(124): Show | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00323.hp2 others(283): Show |
Rare and common genetic determinants of metabolic others(48): Show |
14,296 European ancestry individuals/5,698 Europea others(22): Show |
ACP6 | rs2153463-T | - | LOW | chr1 | T | G |