| geneid | 65985 |
|---|---|
| ensemblid | ENSG00000081760.17 |
| hgncid | 21298 |
| symbol | AACS |
| name | acetoacetyl-CoA synthetase |
| refseq_nuc | NM_023928.5 |
| refseq_prot | NP_076417.2 |
| ensembl_nuc | ENST00000316519.11 |
| ensembl_prot | ENSP00000324842.6 |
| mane_status | MANE Select |
| chr | chr12 |
| start | 125065435 |
| end | 125143316 |
| strand | + |
| ver | v1.2 |
| region | chr12:125065435-125143316 |
| region5000 | chr12:125060435-125148316 |
| regionname0 | AACS_chr12_125065435_125143316 |
| regionname5000 | AACS_chr12_125060435_125148316 |
| 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 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr12:125066450
|
A | AT | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(172): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0003a0001c0001t0001g0030a0001c0001t0001g0031others(169): Show | 175 | 364 | 0.4808 | 1 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | c.133+751dupT | INFO_REALIGN_3_PRIME | |||||
|
chr12:125067012
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(111): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0003a0001c0001t0001g0028a0001c0001t0001g0029others(109): Show | 114 | 364 | 0.3132 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | c.133+1295A>G | ||||||
|
chr12:125067542
|
AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(194): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0003a0001c0001t0001g0028a0001c0001t0001g0029others(190): Show | 197 | 364 | 0.5412 | -1 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | c.133+1839delT | INFO_REALIGN_3_PRIME | |||||
|
chr12:125068128
|
C | G | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(203): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0003a0001c0001t0001g0010a0001c0001t0001g0012others(199): Show | 206 | 364 | 0.5659 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | c.133+2411C>G | ||||||
|
chr12:125068319
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(281): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0004others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(276): Show | 284 | 364 | 0.7802 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | c.133+2602T>C | ||||||
|
chr12:125068364
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(279): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0004others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(274): Show | 282 | 364 | 0.7747 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | c.133+2647T>C | ||||||
|
chr12:125068843
|
CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(277): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0004others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(272): Show | 280 | 364 | 0.7692 | -1 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | c.133+3140delT | INFO_REALIGN_3_PRIME | |||||
|
chr12:125068900
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(140): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0003a0001c0001t0001g0028a0001c0001t0001g0029others(137): Show | 143 | 364 | 0.3929 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | c.133+3183C>T | ||||||
|
chr12:125070752
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(113): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0100others(112): Show | 116 | 364 | 0.3187 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | c.134-3124G>A | ||||||
|
chr12:125072485
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(350): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(345): Show | 353 | 364 | 0.9698 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | c.134-1391C>T | ||||||
|
chr12:125072919
|
GTT | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(171): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0028others(168): Show | 174 | 364 | 0.4780 | -2 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | c.134-932_134-931delTT | INFO_REALIGN_3_PRIME | |||||
|
chr12:125072950
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(284): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0004others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(279): Show | 287 | 364 | 0.7885 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | c.134-926T>C | ||||||
|
chr12:125073163
|
G | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(278): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0004others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0028others(273): Show | 281 | 364 | 0.7720 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | c.134-713G>C | ||||||
|
chr12:125074660
|
G | GT | intron_variant | MODIFIER | HG01109.hp2 HG01175.hp2 HG01258.hp2 others(44): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0003a0001c0001t0001g0010a0001c0001t0001g0012others(43): Show | 47 | 364 | 0.1291 | 1 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 2/17 | c.237+702dupT | INFO_REALIGN_3_PRIME | |||||
|
chr12:125074975
|
G | GT | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(128): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0003a0001c0001t0001g0028a0001c0001t0001g0029others(126): Show | 131 | 364 | 0.3599 | 1 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 2/17 | c.237+1014dupT | INFO_REALIGN_3_PRIME | |||||
|
chr12:125075534
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(112): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0097others(111): Show | 115 | 364 | 0.3159 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 2/17 | c.238-957C>T | ||||||
|
chr12:125076174
|
A | T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(112): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0097others(111): Show | 115 | 364 | 0.3159 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 2/17 | c.238-317A>T | ||||||
|
chr12:125077074
|
AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(111): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0097others(110): Show | 114 | 364 | 0.3132 | -1 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.358+484delT | INFO_REALIGN_3_PRIME | |||||
|
chr12:125077621
|
C | G | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(112): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0097others(111): Show | 115 | 364 | 0.3159 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.358+1010C>G | ||||||
|
chr12:125078263
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(352): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(347): Show | 355 | 364 | 0.9753 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.358+1652G>A | ||||||
|
chr12:125078420
|
T | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(288): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0004others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(283): Show | 291 | 364 | 0.7995 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.358+1809T>G | ||||||
|
chr12:125078820
|
CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(112): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(111): Show | 115 | 364 | 0.3159 | -1 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.358+2234delA | INFO_REALIGN_3_PRIME | |||||
|
chr12:125079678
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(288): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0004others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(283): Show | 291 | 364 | 0.7995 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.358+3067T>C | ||||||
|
chr12:125080641
|
C | CTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(360): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(355): Show | 363 | 364 | 0.9973 | 2 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.358+4031_358+4032dupTT | INFO_REALIGN_3_PRIME | |||||
|
chr12:125081141
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(112): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0097others(111): Show | 115 | 364 | 0.3159 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.358+4530C>T | ||||||
|
chr12:125081915
|
G | T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(116): Show |
a0001a0003a0005 | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0003a0001c0001t0001g0028a0001c0001t0001g0029others(114): Show | 119 | 364 | 0.3269 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.359-4415G>T | ||||||
|
chr12:125082171
|
AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(345): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(340): Show | 348 | 364 | 0.9560 | -1 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.359-4142delT | INFO_REALIGN_3_PRIME | |||||
|
chr12:125082357
|
T | A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(60): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0029a0001c0001t0001g0100a0001c0001t0001g0169others(59): Show | 63 | 364 | 0.1731 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.359-3973T>A | ||||||
|
chr12:125082566
|
AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(360): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(355): Show | 363 | 364 | 0.9973 | -1 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.359-3763delT | ||||||
|
chr12:125082637
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(59): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0029a0001c0001t0001g0100a0001c0001t0001g0169others(58): Show | 62 | 364 | 0.1703 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.359-3693A>G | ||||||
|
chr12:125083207
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(199): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0097others(196): Show | 202 | 364 | 0.5550 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.359-3123C>T | ||||||
|
chr12:125083232
|
C | T | intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233 | 1 | 364 | 0.0028 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.359-3098C>T | ||||||
|
chr12:125083333
|
A | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(281): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0004others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(276): Show | 284 | 364 | 0.7802 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.359-2997A>T | ||||||
|
chr12:125084099
|
C | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(360): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(355): Show | 363 | 364 | 0.9973 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.359-2231C>G | ||||||
|
chr12:125084100
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(360): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(355): Show | 363 | 364 | 0.9973 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.359-2230A>G | ||||||
|
chr12:125084442
|
T | G | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(115): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0097others(114): Show | 118 | 364 | 0.3242 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.359-1888T>G | ||||||
|
chr12:125085464
|
C | T | intron_variant | MODIFIER | HG00621.hp2 HG00642.hp2 HG00733.hp2 others(53): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0004a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(8): Show | a0001c0001t0001g0061a0001c0001t0001g0065a0001c0001t0001g0100others(52): Show | 56 | 364 | 0.1539 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.359-866C>T | ||||||
|
chr12:125085514
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(349): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0005a0001c0001t0001g0010a0001c0001t0001g0012others(345): Show | 352 | 364 | 0.9670 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.359-816A>G | ||||||
|
chr12:125085630
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00621.hp2 HG00642.hp1 others(137): Show |
a0001a0002a0005others(5): Show | a0001c0001a0001c0003a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0038others(135): Show | 140 | 364 | 0.3846 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.359-700T>C | ||||||
|
chr12:125085651
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(335): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(330): Show | 338 | 364 | 0.9286 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.359-679C>T | ||||||
|
chr12:125085681
|
C | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(350): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0005a0001c0001t0001g0010a0001c0001t0001g0012others(346): Show | 353 | 364 | 0.9698 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | c.359-649C>A | ||||||
|
chr12:125088524
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(199): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0005a0001c0001t0001g0028a0001c0001t0001g0030others(197): Show | 202 | 364 | 0.5550 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | c.472+2081C>T | ||||||
|
chr12:125089254
|
C | G | intron_variant | MODIFIER | HG00621.hp2 HG00642.hp2 HG00738.hp1 others(48): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0004t0004others(6): Show | a0001c0001t0001g0061a0001c0001t0001g0065a0001c0001t0001g0100others(48): Show | 51 | 364 | 0.1401 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | c.473-2172C>G | ||||||
|
chr12:125090139
|
ACC | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(360): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(355): Show | 363 | 364 | 0.9973 | -2 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | c.473-1286_473-1285delCC | ||||||
|
chr12:125090142
|
A | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(360): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(355): Show | 363 | 364 | 0.9973 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | c.473-1284A>T | ||||||
|
chr12:125090168
|
CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(360): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(355): Show | 363 | 364 | 0.9973 | -1 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | c.473-1257delT | ||||||
|
chr12:125090189
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(360): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(355): Show | 363 | 364 | 0.9973 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | c.473-1237C>T | ||||||
|
chr12:125090191
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(360): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(355): Show | 363 | 364 | 0.9973 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | c.473-1235T>C | ||||||
|
chr12:125090197
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(360): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(355): Show | 363 | 364 | 0.9973 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | c.473-1229C>T | ||||||
|
chr12:125090207
|
T | TCATCCAT others(145): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(355): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(350): Show | 358 | 364 | 0.9835 | 152 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | c.473-1219_473-1218insCATCCATACATTCATCTATCTTCCACCCATCATCTACCCTCCACCCATCATCTACCCATTCATCCATCCATCCTCCATTCATCATCCCTCATCCATCATTTATCCAACTATCCATCCATCTGTCTACACATTCTTCTCTCCACCTACCCATC | ||||||
|
chr12:125090208
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(360): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(355): Show | 363 | 364 | 0.9973 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | c.473-1218T>C | ||||||
|
chr12:125090216
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(360): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(355): Show | 363 | 364 | 0.9973 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | c.473-1210T>C | ||||||
|
chr12:125090228
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(360): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(355): Show | 363 | 364 | 0.9973 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | c.473-1198T>C | ||||||
|
chr12:125090230
|
T | TC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(360): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(355): Show | 363 | 364 | 0.9973 | 1 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | c.473-1196_473-1195insC | ||||||
|
chr12:125090233
|
TG | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(360): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(355): Show | 363 | 364 | 0.9973 | -1 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | c.473-1192delG | ||||||
|
chr12:125092725
|
T | TG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(342): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(337): Show | 345 | 364 | 0.9478 | 1 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | c.570+1202_570+1203insG | ||||||
|
chr12:125094216
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(342): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(337): Show | 345 | 364 | 0.9478 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | c.570+2693T>C | ||||||
|
chr12:125094978
|
CGTGTGTG others(9): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(163): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0005a0001c0001t0001g0028a0001c0001t0001g0030others(161): Show | 166 | 364 | 0.4560 | -16 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | c.570+3486_570+3501delGTGTGTGTGTGTGTGT | INFO_REALIGN_3_PRIME | |||||
|
chr12:125095134
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(192): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0005a0001c0001t0001g0028a0001c0001t0001g0030others(190): Show | 195 | 364 | 0.5357 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | c.570+3611A>G | ||||||
|
chr12:125097652
|
G | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(339): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(334): Show | 342 | 364 | 0.9396 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | c.571-5027G>T | ||||||
|
chr12:125097845
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00558.hp1 others(189): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0005a0001c0001t0001g0028a0001c0001t0001g0030others(187): Show | 192 | 364 | 0.5275 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | c.571-4834C>T | ||||||
|
chr12:125098284
|
G | C | intron_variant | MODIFIER | HG00621.hp2 HG00642.hp2 HG00738.hp1 others(46): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0004t0004others(6): Show | a0001c0001t0001g0061a0001c0001t0001g0065a0001c0001t0001g0100others(46): Show | 49 | 364 | 0.1346 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | c.571-4395G>C | ||||||
|
chr12:125098713
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(350): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(38): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(345): Show | 353 | 364 | 0.9698 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | c.571-3966G>A | ||||||
|
chr12:125098714
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(190): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0005a0001c0001t0001g0030a0001c0001t0001g0031others(188): Show | 193 | 364 | 0.5302 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | c.571-3965G>A | ||||||
|
chr12:125099796
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(191): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0005a0001c0001t0001g0030a0001c0001t0001g0031others(189): Show | 194 | 364 | 0.5330 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | c.571-2883C>T | ||||||
|
chr12:125101762
|
C | CT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(303): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0004others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(298): Show | 306 | 364 | 0.8407 | 1 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | c.571-895dupT | INFO_REALIGN_3_PRIME | |||||
|
chr12:125102068
|
T | TA | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(124): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0008others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0003a0001c0001t0001g0012a0001c0001t0001g0013others(122): Show | 127 | 364 | 0.3489 | 1 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | c.571-600dupA | INFO_REALIGN_3_PRIME | |||||
|
chr12:125103987
|
C | CAAAAA | intron_variant | MODIFIER | HG00597.hp1 HG01074.hp2 HG01109.hp2 others(33): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(4): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0065others(32): Show | 36 | 364 | 0.0989 | 5 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | c.767+934_767+938dupAAAAA | INFO_REALIGN_3_PRIME | |||||
|
chr12:125106406
|
A | G | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG00733.hp1 others(56): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0003a0001c0004others(12): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(14): Show | a0001c0001t0001g0005a0001c0001t0001g0049a0001c0001t0001g0069others(54): Show | 59 | 364 | 0.1621 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | c.768-715A>G | ||||||
|
chr12:125110189
|
TTGTGTGT others(5): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG01099.hp1 HG01109.hp2 others(34): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0015others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(9): Show | a0001c0001t0001g0038a0001c0001t0001g0062a0001c0001t0001g0066others(34): Show | 37 | 364 | 0.1017 | -12 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | c.915+2971_915+2982delGTGTGTGTGTGT | INFO_REALIGN_3_PRIME | |||||
|
chr12:125117523
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(359): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(354): Show | 362 | 364 | 0.9945 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 9/17 | c.997-1118A>G | ||||||
|
chr12:125118606
|
C | T | intron_variant | MODIFIER | HG00621.hp2 HG00642.hp2 HG00738.hp1 others(48): Show |
a0001a0002a0008others(1): Show | a0001c0001a0002c0002a0008c0023others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0007others(2): Show | a0001c0001t0001g0029a0001c0001t0001g0061a0001c0001t0001g0065others(48): Show | 51 | 364 | 0.1401 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 9/17 | c.997-35C>T | ||||||
|
chr12:125123081
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(359): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(354): Show | 362 | 364 | 0.9945 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 10/17 | c.1122-1624T>C | ||||||
|
chr12:125127140
|
A | T | intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233 | 1 | 364 | 0.0028 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 12/17 | c.1310-1021A>T | ||||||
|
chr12:125131745
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00558.hp1 others(107): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0018others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(6): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0061others(106): Show | 110 | 364 | 0.3022 | 0 | AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 14/17 | c.1550-2258C>T |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AACS | 1/0 | a0001 | 672 | 273 | 54 | 58 | 120 | 12 | 28 | subcellular location copy fasta | chr12 | 125060435 | 125148316 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AACS | 1/0 | c0001 | 2019 | 226 | 45 | 58 | 84 | 12 | 26 | copy fasta | chr12 | 125060435 | 125148316 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AACS | 1/0 | t0001 | 1238 | 216 | 81 | 36 | 67 | 4 | 27 | copy fasta | chr12 | 125060435 | 125148316 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AACS | 0/0 | g0233 | 1 | 0 | 1 | 0 | 0 | 0 | chr12 | 125060435 | 125148316 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AACS | 1/0 | a0001c0001 | 226 | 45 | 58 | 84 | 12 | 26 | 2019 | copy fasta | chr12 | 125060435 | 125148316 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AACS | 1/0 | a0001c0001t0001 | 109 | 37 | 24 | 28 | 2 | 17 | 3256 | copy fasta | chr12 | 125060435 | 125148316 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AACS | 0/0 | a0001c0001t0001g0233 | 1 | 0 | 1 | 0 | 0 | 0 | chr12 | 125060435 | 125148316 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 125065717 | + | 1 | -0.9862 | -0.9862 | -0.9862 | 0.0000 | acceptor | a0001c0001t0001g0233 | HG01109.hp2 | HG01109.hp2 | AACS | chr12 | 125060435 | 125148316 |
| 125073876 | + | 2 | 0.9843 | 0.9843 | 0.9843 | 0.0000 | donor | a0001c0001t0001g0233 | HG01109.hp2 | HG01109.hp2 | AACS | chr12 | 125060435 | 125148316 |
| 125073979 | + | 2 | -0.9914 | -0.9914 | -0.9914 | 0.0000 | acceptor | a0001c0001t0001g0233 | HG01109.hp2 | HG01109.hp2 | AACS | chr12 | 125060435 | 125148316 |
| 125076491 | + | 3 | 0.9990 | 0.9990 | 0.9990 | 0.0000 | donor | a0001c0001t0001g0233 | HG01109.hp2 | HG01109.hp2 | AACS | chr12 | 125060435 | 125148316 |
| 125076611 | + | 3 | -0.9994 | -0.9993 | -0.9994 | 0.0000 | acceptor | a0001c0001t0001g0233 | HG01109.hp2 | HG01109.hp2 | AACS | chr12 | 125060435 | 125148316 |
| 125086330 | + | 4 | 0.9960 | 0.9960 | 0.9960 | 0.0000 | donor | a0001c0001t0001g0233 | HG01109.hp2 | HG01109.hp2 | AACS | chr12 | 125060435 | 125148316 |
| 125086443 | + | 4 | -0.9985 | -0.9985 | -0.9985 | 0.0000 | acceptor | a0001c0001t0001g0233 | HG01109.hp2 | HG01109.hp2 | AACS | chr12 | 125060435 | 125148316 |
| 125091426 | + | 5 | 0.9881 | 0.9881 | 0.9881 | 0.0000 | donor | a0001c0001t0001g0233 | HG01109.hp2 | HG01109.hp2 | AACS | chr12 | 125060435 | 125148316 |
| 125091523 | + | 5 | -0.9829 | -0.9829 | -0.9829 | 0.0000 | acceptor | a0001c0001t0001g0233 | HG01109.hp2 | HG01109.hp2 | AACS | chr12 | 125060435 | 125148316 |
| 125102679 | + | 6 | 0.9926 | 0.9926 | 0.9926 | 0.0000 | donor | a0001c0001t0001g0233 | HG01109.hp2 | HG01109.hp2 | AACS | chr12 | 125060435 | 125148316 |
| 125102793 | + | 6 | -0.9954 | -0.9954 | -0.9954 | 0.0000 | acceptor | a0001c0001t0001g0233 | HG01109.hp2 | HG01109.hp2 | AACS | chr12 | 125060435 | 125148316 |
| 125103000 | + | 7 | 0.9985 | 0.9985 | 0.9985 | 0.0000 | donor | a0001c0001t0001g0233 | HG01109.hp2 | HG01109.hp2 | AACS | chr12 | 125060435 | 125148316 |
| 125103081 | + | 7 | -0.9962 | -0.9962 | -0.9962 | 0.0000 | acceptor | a0001c0001t0001g0233 | HG01109.hp2 | HG01109.hp2 | AACS | chr12 | 125060435 | 125148316 |
| 125107121 | + | 8 | 0.8280 | 0.8280 | 0.8280 | 0.0000 | donor | a0001c0001t0001g0233 | HG01109.hp2 | HG01109.hp2 | AACS | chr12 | 125060435 | 125148316 |
| 125107268 | + | 8 | -0.8500 | -0.8500 | -0.8500 | 0.0000 | acceptor | a0001c0001t0001g0233 | HG01109.hp2 | HG01109.hp2 | AACS | chr12 | 125060435 | 125148316 |
| 125114477 | + | 9 | 0.9897 | 0.9897 | 0.9897 | 0.0000 | donor | a0001c0001t0001g0233 | HG01109.hp2 | HG01109.hp2 | AACS | chr12 | 125060435 | 125148316 |
| 125114557 | + | 9 | -0.9966 | -0.9966 | -0.9966 | 0.0000 | acceptor | a0001c0001t0001g0233 | HG01109.hp2 | HG01109.hp2 | AACS | chr12 | 125060435 | 125148316 |
| 125118641 | + | 10 | 0.9926 | 0.9926 | 0.9926 | 0.0000 | donor | a0001c0001t0001g0233 | HG01109.hp2 | HG01109.hp2 | AACS | chr12 | 125060435 | 125148316 |
| 125118765 | + | 10 | -0.9952 | -0.9952 | -0.9952 | 0.0000 | acceptor | a0001c0001t0001g0233 | HG01109.hp2 | HG01109.hp2 | AACS | chr12 | 125060435 | 125148316 |
| 125124705 | + | 11 | 0.5180 | 0.5180 | 0.5180 | 0.0000 | donor | a0001c0001t0001g0233 | HG01109.hp2 | HG01109.hp2 | AACS | chr12 | 125060435 | 125148316 |
| 125124769 | + | 11 | -0.5954 | -0.5954 | -0.5954 | 0.0000 | acceptor | a0001c0001t0001g0233 | HG01109.hp2 | HG01109.hp2 | AACS | chr12 | 125060435 | 125148316 |
| 125124902 | + | 12 | 0.6328 | 0.6328 | 0.6328 | 0.0000 | donor | a0001c0001t0001g0233 | HG01109.hp2 | HG01109.hp2 | AACS | chr12 | 125060435 | 125148316 |
| 125125024 | + | 12 | -0.6948 | -0.6948 | -0.6948 | 0.0000 | acceptor | a0001c0001t0001g0233 | HG01109.hp2 | HG01109.hp2 | AACS | chr12 | 125060435 | 125148316 |
| 125128161 | + | 13 | 0.9429 | 0.9429 | 0.9429 | 0.0000 | donor | a0001c0001t0001g0233 | HG01109.hp2 | HG01109.hp2 | AACS | chr12 | 125060435 | 125148316 |
| 125128274 | + | 13 | -0.7065 | -0.7065 | -0.7065 | 0.0000 | acceptor | a0001c0001t0001g0233 | HG01109.hp2 | HG01109.hp2 | AACS | chr12 | 125060435 | 125148316 |
| 125129335 | + | 14 | 0.6072 | 0.6072 | 0.6072 | 0.0000 | donor | a0001c0001t0001g0233 | HG01109.hp2 | HG01109.hp2 | AACS | chr12 | 125060435 | 125148316 |
| 125129460 | + | 14 | -0.5498 | -0.5498 | -0.5498 | 0.0000 | acceptor | a0001c0001t0001g0233 | HG01109.hp2 | HG01109.hp2 | AACS | chr12 | 125060435 | 125148316 |
| 125134003 | + | 15 | 0.9978 | 0.9978 | 0.9978 | 0.0000 | donor | a0001c0001t0001g0233 | HG01109.hp2 | HG01109.hp2 | AACS | chr12 | 125060435 | 125148316 |
| 125134072 | + | 15 | -0.9984 | -0.9984 | -0.9984 | 0.0000 | acceptor | a0001c0001t0001g0233 | HG01109.hp2 | HG01109.hp2 | AACS | chr12 | 125060435 | 125148316 |
| 125134794 | + | 16 | 0.9984 | 0.9984 | 0.9984 | 0.0000 | donor | a0001c0001t0001g0233 | HG01109.hp2 | HG01109.hp2 | AACS | chr12 | 125060435 | 125148316 |
| 125134852 | + | 16 | -0.9978 | -0.9978 | -0.9978 | 0.0000 | acceptor | a0001c0001t0001g0233 | HG01109.hp2 | HG01109.hp2 | AACS | chr12 | 125060435 | 125148316 |
| 125136662 | + | 17 | 0.9915 | 0.9915 | 0.9915 | 0.0000 | donor | a0001c0001t0001g0233 | HG01109.hp2 | HG01109.hp2 | AACS | chr12 | 125060435 | 125148316 |
| 125136864 | + | 17 | -0.6958 | -0.6958 | -0.6958 | 0.0000 | acceptor | a0001c0001t0001g0233 | HG01109.hp2 | HG01109.hp2 | AACS | chr12 | 125060435 | 125148316 |
| 125142092 | + | 18 | 0.9529 | 0.9529 | 0.9529 | 0.0000 | donor | a0001c0001t0001g0233 | HG01109.hp2 | HG01109.hp2 | AACS | chr12 | 125060435 | 125148316 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr12:125083207
|
c.359-3123C>T |
Parkinson's disease progression (cognitive) others(7): Show |
a0001a0002a0003a0008a0009others(1): Show | a0001c0001a0001c0003a0001c0004a0001c0008a0001c0012others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0005a0001c0001t0006others(30): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0097a0001c0001t0001g0100a0001c0001t0001g0109others(194): Show | HG00099.hp1 HG00323.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 others(197): Show |
Genome-Wide Association Studies of Cognitive and M others(40): Show |
2,788 individuals/ | AACS | AACS | rs6488987-C | + | MODIFIER | chr12 | C | T |
| pos | genenamehgvs_chgvs_pannotation | tissueexpression gene-log10(pval)slope Tissue name in GTEx database(the target eQTL tissue name of the GTEx database)The -log10(nominal pvalue) in GTEx databaseSlope in GTEx database (positive value:alt allele has higher gene expression) |
ahapidchapidthapidghapid ahapid_countchapid_countthapid_countghapid_count
|
AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
af allele frequency in GTEx database |
ms The number of samples with minor allele in GTEx database |
ma The number of minor allele count in GTEx database |
ver GTEx version |
vid Variant ID in GTEx database |
strand strand
|
impact | chr | ref | alt | external |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 125092725:splice 125092725:variant goto | AACSintron_variantc.570+1202_570+1203ins others(6): Show |
TMEM132B Nerve_Tibial 4.385 -0.242 | 102439340 | a0001a0002a0003a0004a0005others(5): Show | a0001c0001a0001c0003a0001c0004a0001c0008a0001c0009others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0005a0001c0001t0006others(34): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010a0001c0001t0001g0012a0001c0001t0001g0013others(335): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 others(340): Show |
0.954 | 59 | 61 | 10 | chr12_125092725_T_TG_b38 | + | MODIFIER | chr12 | T | TG | TogoVar |
| 125094216:splice 125094216:variant goto | AACSintron_variantc.570+2693T>C | TMEM132B Nerve_Tibial 4.385 -0.242 | 102439340 | a0001a0002a0003a0004a0005others(5): Show |