| geneid | 6296 |
|---|---|
| ensemblid | ENSG00000005187.12 |
| hgncid | 10522 |
| symbol | ACSM3 |
| name | acyl-CoA synthetase medium chain family member 3 |
| refseq_nuc | NM_005622.4 |
| refseq_prot | NP_005613.2 |
| ensembl_nuc | ENST00000289416.10 |
| ensembl_prot | ENSP00000289416.5 |
| mane_status | MANE Select |
| chr | chr16 |
| start | 20764014 |
| end | 20797581 |
| strand | + |
| ver | v1.2 |
| region | chr16:20764014-20797581 |
| region5000 | chr16:20759014-20802581 |
| regionname0 | ACSM3_chr16_20764014_20797581 |
| regionname5000 | ACSM3_chr16_20759014_20802581 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr16:20785065
|
G | C | 0.1236 | missense_variant | MODERATE | HG00423.hp1 HG00438.hp2 HG00558.hp2 others(41): Show |
a0002a0005a0012 | a0002c0002a0005c0006a0012c0014 | a0002c0002t0001a0002c0002t0003a0005c0006t0001others(1): Show | a0002c0002t0001g0003a0002c0002t0001g0007a0002c0002t0001g0016others(22): Show | 44 | 356 | 0 | ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 8/14 | c.1101G>C | p.Lys367Asn | 1264/2533 | 1101/1761 | 367/586 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr16:20765139
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(164): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0008others(10): Show | a0001c0001t0001a0001c0001t0004a0001c0004t0001others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0013others(90): Show | 167 | 356 | 0.4691 | 0 | ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 1/13 | c.-52+1014T>C | ||||||
|
chr16:20765709
|
C | T | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00558.hp2 others(53): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0006others(1): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(3): Show | a0001c0001t0001g0015a0001c0001t0001g0032a0001c0001t0001g0033others(29): Show | 56 | 356 | 0.1573 | 0 | ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 1/13 | c.-52+1584C>T | ||||||
|
chr16:20766610
|
C | T | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00558.hp2 others(54): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0012a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0012t0001others(4): Show | a0001c0001t0001g0015a0001c0001t0001g0032a0001c0001t0001g0033others(30): Show | 57 | 356 | 0.1601 | 0 | ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 1/13 | c.-52+2485C>T | ||||||
|
chr16:20767219
|
CAAAAAAC others(313): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(198): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0004a0001c0008others(12): Show | a0001c0001t0001a0001c0001t0004a0001c0004t0001others(14): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0012others(116): Show | 201 | 356 | 0.5646 | -320 | ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 1/13 | c.-51-2748_-51-2429del | INFO_REALIGN_3_PRIME | |||||
|
chr16:20768640
|
A | T | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00558.hp2 others(54): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0012a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0012t0001others(4): Show | a0001c0001t0001g0015a0001c0001t0001g0032a0001c0001t0001g0033others(30): Show | 57 | 356 | 0.1601 | 0 | ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 1/13 | c.-51-1344A>T | ||||||
|
chr16:20768940
|
C | T | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00558.hp2 others(54): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0012a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0012t0001others(4): Show | a0001c0001t0001g0015a0001c0001t0001g0032a0001c0001t0001g0033others(30): Show | 57 | 356 | 0.1601 | 0 | ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 1/13 | c.-51-1044C>T | ||||||
|
chr16:20769064
|
C | T | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00558.hp2 others(53): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0006others(1): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(3): Show | a0001c0001t0001g0015a0001c0001t0001g0032a0001c0001t0001g0033others(29): Show | 56 | 356 | 0.1573 | 0 | ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 1/13 | c.-51-920C>T | ||||||
|
chr16:20769872
|
C | A | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00558.hp2 others(54): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0012a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0012t0001others(4): Show | a0001c0001t0001g0015a0001c0001t0001g0032a0001c0001t0001g0033others(30): Show | 57 | 356 | 0.1601 | 0 | ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 1/13 | c.-51-112C>A | ||||||
|
chr16:20770375
|
T | C | intron_variant | MODIFIER | HG00609.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0097 | 1 | 356 | 0.0028 | 0 | ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 2/13 | c.219+122T>C | ||||||
|
chr16:20770530
|
TA | T | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00558.hp2 others(43): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0006others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0003others(2): Show | a0001c0001t0001g0051a0001c0001t0001g0181a0002c0002t0001g0003others(24): Show | 46 | 356 | 0.1292 | -1 | ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 2/13 | c.219+289delA | INFO_REALIGN_3_PRIME | |||||
|
chr16:20770537
|
A | G | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00558.hp2 others(41): Show |
a0002a0005a0012 | a0002c0002a0005c0006a0012c0014 | a0002c0002t0001a0002c0002t0003a0005c0006t0001others(1): Show | a0002c0002t0001g0003a0002c0002t0001g0007a0002c0002t0001g0016others(22): Show | 44 | 356 | 0.1236 | 0 | ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 2/13 | c.219+284A>G | ||||||
|
chr16:20770617
|
G | A | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00558.hp2 others(85): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0008others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0004t0001others(9): Show | a0001c0001t0001g0015a0001c0001t0001g0032a0001c0001t0001g0033others(48): Show | 88 | 356 | 0.2472 | 0 | ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 2/13 | c.219+364G>A | ||||||
|
chr16:20770625
|
T | G | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00558.hp2 others(56): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0012a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0012t0001others(4): Show | a0001c0001t0001g0015a0001c0001t0001g0032a0001c0001t0001g0033others(32): Show | 59 | 356 | 0.1657 | 0 | ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 2/13 | c.219+372T>G | ||||||
|
chr16:20771051
|
G | A | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00558.hp2 others(56): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0012a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0012t0001others(4): Show | a0001c0001t0001g0015a0001c0001t0001g0032a0001c0001t0001g0033others(32): Show | 59 | 356 | 0.1657 | 0 | ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 2/13 | c.219+798G>A | ||||||
|
chr16:20771717
|
A | G | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00558.hp2 others(85): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0008others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0004t0001others(9): Show | a0001c0001t0001g0015a0001c0001t0001g0032a0001c0001t0001g0033others(48): Show | 88 | 356 | 0.2472 | 0 | ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 2/13 | c.219+1464A>G | ||||||
|
chr16:20771956
|
A | G | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00558.hp2 others(56): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0012a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0012t0001others(4): Show | a0001c0001t0001g0015a0001c0001t0001g0032a0001c0001t0001g0033others(32): Show | 59 | 356 | 0.1657 | 0 | ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 2/13 | c.219+1703A>G | ||||||
|
chr16:20772415
|
TA | T | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00558.hp2 others(53): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0006others(1): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(3): Show | a0001c0001t0001g0015a0001c0001t0001g0032a0001c0001t0001g0033others(29): Show | 56 | 356 | 0.1573 | -1 | ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 2/13 | c.219+2168delA | INFO_REALIGN_3_PRIME | |||||
|
chr16:20772694
|
A | C | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00558.hp2 others(56): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0012a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0012t0001others(4): Show | a0001c0001t0001g0015a0001c0001t0001g0032a0001c0001t0001g0033others(32): Show | 59 | 356 | 0.1657 | 0 | ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 2/13 | c.219+2441A>C | ||||||
|
chr16:20772824
|
G | A | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00558.hp2 others(51): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0004a0001c0012others(3): Show | a0001c0001t0001a0001c0004t0001a0001c0012t0001others(4): Show | a0001c0001t0001g0084a0001c0004t0001g0005a0001c0004t0001g0058others(26): Show | 54 | 356 | 0.1517 | 0 | ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 2/13 | c.219+2571G>A | ||||||
|
chr16:20772973
|
A | G | intron_variant | MODIFIER | HG00609.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0097 | 1 | 356 | 0.0028 | 0 | ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 2/13 | c.219+2720A>G | ||||||
|
chr16:20774239
|
C | CT | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00609.hp2 others(52): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0012a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0012t0001others(5): Show | a0001c0001t0001g0015a0001c0001t0001g0027a0001c0001t0001g0032others(31): Show | 55 | 356 | 0.1545 | 1 | ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 2/13 | c.220-1579dupT | INFO_REALIGN_3_PRIME | |||||
|
chr16:20774394
|
T | C | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00558.hp2 others(56): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0012a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0012t0001others(4): Show | a0001c0001t0001g0015a0001c0001t0001g0032a0001c0001t0001g0033others(32): Show | 59 | 356 | 0.1657 | 0 | ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 2/13 | c.220-1445T>C | ||||||
|
chr16:20776448
|
G | A | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00558.hp2 others(56): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0012a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0012t0001others(4): Show | a0001c0001t0001g0015a0001c0001t0001g0032a0001c0001t0001g0033others(32): Show | 59 | 356 | 0.1657 | 0 | ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 3/13 | c.430+399G>A | ||||||
|
chr16:20776623
|
A | G | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00558.hp2 others(56): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0012a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0012t0001others(4): Show | a0001c0001t0001g0015a0001c0001t0001g0032a0001c0001t0001g0033others(32): Show | 59 | 356 | 0.1657 | 0 | ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 3/13 | c.430+574A>G | ||||||
|
chr16:20776862
|
T | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(166): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0008others(10): Show | a0001c0001t0001a0001c0001t0004a0001c0004t0001others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0013others(92): Show | 169 | 356 | 0.4747 | 0 | ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 3/13 | c.431-511T>G | ||||||
|
chr16:20778013
|
G | A | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00558.hp2 others(56): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0012a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0012t0001others(4): Show | a0001c0001t0001g0015a0001c0001t0001g0032a0001c0001t0001g0033others(32): Show | 59 | 356 | 0.1657 | 0 | ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 4/13 | c.638+433G>A | ||||||
|
chr16:20778773
|
C | T | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00558.hp2 others(56): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0012a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0012t0001others(4): Show | a0001c0001t0001g0015a0001c0001t0001g0032a0001c0001t0001g0033others(32): Show | 59 | 356 | 0.1657 | 0 | ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 4/13 | c.638+1193C>T | ||||||
|
chr16:20778837
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(166): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0008others(10): Show | a0001c0001t0001a0001c0001t0004a0001c0004t0001others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0013others(92): Show | 169 | 356 | 0.4747 | 0 | ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 4/13 | c.638+1257A>G | ||||||
|
chr16:20778993
|
T | C | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00558.hp2 others(56): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0012a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0012t0001others(4): Show | a0001c0001t0001g0015a0001c0001t0001g0032a0001c0001t0001g0033others(32): Show | 59 | 356 | 0.1657 | 0 | ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 4/13 | c.638+1413T>C | ||||||
|
chr16:20779366
|
A | G | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00558.hp2 others(56): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0012a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0012t0001others(4): Show | a0001c0001t0001g0015a0001c0001t0001g0032a0001c0001t0001g0033others(32): Show | 59 | 356 | 0.1657 | 0 | ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 4/13 | c.639-1348A>G | ||||||
|
chr16:20779425
|
CA | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp2 others(160): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0012others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0004t0001others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0013others(87): Show | 163 | 356 | 0.4579 | -1 | ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 4/13 | c.639-1275delA | INFO_REALIGN_3_PRIME | |||||
|
chr16:20779771
|
CTT | C | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00558.hp2 others(55): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0012a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0012t0001others(4): Show | a0001c0001t0001g0015a0001c0001t0001g0032a0001c0001t0001g0033others(31): Show | 58 | 356 | 0.1629 | -2 | ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 4/13 | c.639-926_639-925delTT | INFO_REALIGN_3_PRIME | |||||
|
chr16:20780184
|
C | A | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00558.hp2 others(83): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0008others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0004t0001others(9): Show | a0001c0001t0001g0015a0001c0001t0001g0032a0001c0001t0001g0033others(46): Show | 86 | 356 | 0.2416 | 0 | ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 4/13 | c.639-530C>A | ||||||
|
chr16:20780866
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(198): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0004a0001c0008others(12): Show | a0001c0001t0001a0001c0001t0004a0001c0004t0001others(14): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0012others(116): Show | 201 | 356 | 0.5646 | 0 | ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 5/13 | c.782+9T>C | ||||||
|
chr16:20781592
|
A | C | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00558.hp2 others(56): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0012a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0012t0001others(4): Show | a0001c0001t0001g0015a0001c0001t0001g0032a0001c0001t0001g0033others(32): Show | 59 | 356 | 0.1657 | 0 | ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 6/13 | c.940-116A>C | ||||||
|
chr16:20781807
|
A | T | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00558.hp2 others(55): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0006others(1): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(3): Show | a0001c0001t0001g0015a0001c0001t0001g0032a0001c0001t0001g0033others(31): Show | 58 | 356 | 0.1629 | 0 | ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 7/13 | c.1019+20A>T | ||||||
|
chr16:20783177
|
A | T | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00558.hp2 others(53): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0006others(1): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(3): Show | a0001c0001t0001g0015a0001c0001t0001g0032a0001c0001t0001g0033others(29): Show | 56 | 356 | 0.1573 | 0 | ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 7/13 | c.1019+1390A>T | ||||||
|
chr16:20783661
|
A | G | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00558.hp2 others(64): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0004t0001others(6): Show | a0001c0001t0001g0015a0001c0001t0001g0032a0001c0001t0001g0033others(39): Show | 67 | 356 | 0.1882 | 0 | ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 7/13 | c.1020-1323A>G | ||||||
|
chr16:20783812
|
A | AT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(322): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0004a0001c0012others(14): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(17): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(193): Show | 325 | 356 | 0.9129 | 1 | ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 7/13 | c.1020-1159dupT | INFO_REALIGN_3_PRIME | |||||
|
chr16:20786920
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(198): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0004a0001c0008others(12): Show | a0001c0001t0001a0001c0001t0004a0001c0004t0001others(14): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0012others(116): Show | 201 | 356 | 0.5646 | 0 | ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 9/13 | c.1224+762G>A | ||||||
|
chr16:20787604
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(166): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0008others(10): Show | a0001c0001t0001a0001c0001t0004a0001c0004t0001others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0013others(92): Show | 169 | 356 | 0.4747 | 0 | ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 9/13 | c.1224+1446A>G | ||||||
|
chr16:20788484
|
T | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(164): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0008others(10): Show | a0001c0001t0001a0001c0001t0004a0001c0004t0001others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0013others(90): Show | 167 | 356 | 0.4691 | 0 | ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 9/13 | c.1225-2103T>G | ||||||
|
chr16:20788485
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(164): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0008others(10): Show | a0001c0001t0001a0001c0001t0004a0001c0004t0001others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0013others(90): Show | 167 | 356 | 0.4691 | 0 | ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 9/13 | c.1225-2102T>C | ||||||
|
chr16:20789594
|
A | G | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00558.hp2 others(78): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0004t0001others(5): Show | a0001c0001t0001g0015a0001c0001t0001g0032a0001c0001t0001g0033others(43): Show | 81 | 356 | 0.2275 | 0 | ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 9/13 | c.1225-993A>G | ||||||
|
chr16:20793161
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(164): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0008others(10): Show | a0001c0001t0001a0001c0001t0004a0001c0004t0001others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0013others(90): Show | 167 | 356 | 0.4691 | 0 | ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 12/13 | c.1554+826T>C | ||||||
|
chr16:20793497
|
TTAAGG | T | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00558.hp2 others(55): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0006others(1): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(3): Show | a0001c0001t0001g0015a0001c0001t0001g0032a0001c0001t0001g0033others(31): Show | 58 | 356 | 0.1629 | -5 | ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 12/13 | c.1554+1166_1554+1170delGGTAA | INFO_REALIGN_3_PRIME |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACSM3 | 0/0 | a0002 | 586 | 40 | 1 | 3 | 32 | 0 | 4 | subcellular location copy fasta | chr16 | 20759014 | 20802581 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACSM3 | 0/0 | c0002 | 1761 | 40 | 1 | 3 | 32 | 0 | 4 | copy fasta | chr16 | 20759014 | 20802581 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACSM3 | 1/1 | t0001 | 773 | 346 | 85 | 58 | 148 | 12 | 41 | copy fasta | chr16 | 20759014 | 20802581 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| ACSM3 | 0/0 | g0097 | 1 | 0 | 0 | 1 | 0 | 0 | chr16 | 20759014 | 20802581 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACSM3 | 0/0 | a0002c0002 | 40 | 1 | 3 | 32 | 0 | 4 | 1761 | copy fasta | chr16 | 20759014 | 20802581 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACSM3 | 0/0 | a0002c0002t0001 | 39 | 1 | 3 | 31 | 0 | 4 | 2533 | copy fasta | chr16 | 20759014 | 20802581 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| ACSM3 | 0/0 | a0002c0002t0001g0097 | 1 | 0 | 0 | 1 | 0 | 0 | chr16 | 20759014 | 20802581 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 20764125 | + | 1 | -0.1030 | -0.1030 | -0.1030 | 0.0000 | acceptor | a0002c0002t0001g0097 | HG00609.hp2 | HG00609.hp2 | ACSM3 | chr16 | 20759014 | 20802581 |
| 20769984 | + | 2 | 0.9972 | 0.9972 | 0.9972 | 0.0000 | donor | a0002c0002t0001g0097 | HG00609.hp2 | HG00609.hp2 | ACSM3 | chr16 | 20759014 | 20802581 |
| 20770253 | + | 2 | -0.9974 | -0.9974 | -0.9974 | 0.0000 | acceptor | a0002c0002t0001g0097 | HG00609.hp2 | HG00609.hp2 | ACSM3 | chr16 | 20759014 | 20802581 |
| 20775839 | + | 3 | 0.9983 | 0.9983 | 0.9983 | 0.0000 | donor | a0002c0002t0001g0097 | HG00609.hp2 | HG00609.hp2 | ACSM3 | chr16 | 20759014 | 20802581 |
| 20776049 | + | 3 | -0.9959 | -0.9959 | -0.9959 | 0.0000 | acceptor | a0002c0002t0001g0097 | HG00609.hp2 | HG00609.hp2 | ACSM3 | chr16 | 20759014 | 20802581 |
| 20777373 | + | 4 | 0.9715 | 0.9715 | 0.9715 | 0.0000 | donor | a0002c0002t0001g0097 | HG00609.hp2 | HG00609.hp2 | ACSM3 | chr16 | 20759014 | 20802581 |
| 20777580 | + | 4 | -0.9912 | -0.9912 | -0.9912 | 0.0000 | acceptor | a0002c0002t0001g0097 | HG00609.hp2 | HG00609.hp2 | ACSM3 | chr16 | 20759014 | 20802581 |
| 20780714 | + | 5 | 0.7773 | 0.7773 | 0.7773 | 0.0000 | donor | a0002c0002t0001g0097 | HG00609.hp2 | HG00609.hp2 | ACSM3 | chr16 | 20759014 | 20802581 |
| 20780857 | + | 5 | -0.8093 | -0.8093 | -0.8093 | 0.0000 | acceptor | a0002c0002t0001g0097 | HG00609.hp2 | HG00609.hp2 | ACSM3 | chr16 | 20759014 | 20802581 |
| 20780974 | + | 6 | 0.6571 | 0.6571 | 0.6571 | 0.0000 | donor | a0002c0002t0001g0097 | HG00609.hp2 | HG00609.hp2 | ACSM3 | chr16 | 20759014 | 20802581 |
| 20781130 | + | 6 | -0.7570 | -0.7570 | -0.7570 | 0.0000 | acceptor | a0002c0002t0001g0097 | HG00609.hp2 | HG00609.hp2 | ACSM3 | chr16 | 20759014 | 20802581 |
| 20781708 | + | 7 | 0.9637 | 0.9637 | 0.9637 | 0.0000 | donor | a0002c0002t0001g0097 | HG00609.hp2 | HG00609.hp2 | ACSM3 | chr16 | 20759014 | 20802581 |
| 20781787 | + | 7 | -0.9860 | -0.9860 | -0.9860 | 0.0000 | acceptor | a0002c0002t0001g0097 | HG00609.hp2 | HG00609.hp2 | ACSM3 | chr16 | 20759014 | 20802581 |
| 20784984 | + | 8 | 0.7397 | 0.7397 | 0.7397 | 0.0000 | donor | a0002c0002t0001g0097 | HG00609.hp2 | HG00609.hp2 | ACSM3 | chr16 | 20759014 | 20802581 |
| 20785107 | + | 8 | -0.8524 | -0.8524 | -0.8524 | 0.0000 | acceptor | a0002c0002t0001g0097 | HG00609.hp2 | HG00609.hp2 | ACSM3 | chr16 | 20759014 | 20802581 |
| 20786078 | + | 9 | 0.7363 | 0.7363 | 0.7363 | 0.0000 | donor | a0002c0002t0001g0097 | HG00609.hp2 | HG00609.hp2 | ACSM3 | chr16 | 20759014 | 20802581 |
| 20786158 | + | 9 | -0.8587 | -0.8587 | -0.8587 | 0.0000 | acceptor | a0002c0002t0001g0097 | HG00609.hp2 | HG00609.hp2 | ACSM3 | chr16 | 20759014 | 20802581 |
| 20790587 | + | 10 | 0.9916 | 0.9916 | 0.9916 | 0.0000 | donor | a0002c0002t0001g0097 | HG00609.hp2 | HG00609.hp2 | ACSM3 | chr16 | 20759014 | 20802581 |
| 20790688 | + | 10 | -0.9954 | -0.9954 | -0.9954 | 0.0000 | acceptor | a0002c0002t0001g0097 | HG00609.hp2 | HG00609.hp2 | ACSM3 | chr16 | 20759014 | 20802581 |
| 20792002 | + | 11 | 0.9874 | 0.9874 | 0.9874 | 0.0000 | donor | a0002c0002t0001g0097 | HG00609.hp2 | HG00609.hp2 | ACSM3 | chr16 | 20759014 | 20802581 |
| 20792129 | + | 11 | -0.9805 | -0.9805 | -0.9805 | 0.0000 | acceptor | a0002c0002t0001g0097 | HG00609.hp2 | HG00609.hp2 | ACSM3 | chr16 | 20759014 | 20802581 |
| 20792236 | + | 12 | 0.9394 | 0.9394 | 0.9394 | 0.0000 | donor | a0002c0002t0001g0097 | HG00609.hp2 | HG00609.hp2 | ACSM3 | chr16 | 20759014 | 20802581 |
| 20792335 | + | 12 | -0.9862 | -0.9862 | -0.9862 | 0.0000 | acceptor | a0002c0002t0001g0097 | HG00609.hp2 | HG00609.hp2 | ACSM3 | chr16 | 20759014 | 20802581 |
| 20796370 | + | 13 | 0.7055 | 0.7055 | 0.7055 | 0.0000 | donor | a0002c0002t0001g0097 | HG00609.hp2 | HG00609.hp2 | ACSM3 | chr16 | 20759014 | 20802581 |
| 20796489 | + | 13 | -0.8727 | -0.8727 | -0.8727 | 0.0000 | acceptor | a0002c0002t0001g0097 | HG00609.hp2 | HG00609.hp2 | ACSM3 | chr16 | 20759014 | 20802581 |
| 20796886 | + | 14 | 0.5585 | 0.5585 | 0.5585 | 0.0000 | donor | a0002c0002t0001g0097 | HG00609.hp2 | HG00609.hp2 | ACSM3 | chr16 | 20759014 | 20802581 |
| 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 |
|---|