| geneid | 10349 |
|---|---|
| ensemblid | ENSG00000154263.18 |
| hgncid | 30 |
| symbol | ABCA10 |
| name | ATP binding cassette subfamily A member 10 |
| refseq_nuc | NM_001377321.1 |
| refseq_prot | NP_001364250.1 |
| ensembl_nuc | ENST00000690296.1 |
| ensembl_prot | ENSP00000509702.1 |
| mane_status | MANE Select |
| chr | chr17 |
| start | 69148007 |
| end | 69228824 |
| strand | - |
| ver | v1.2 |
| region | chr17:69148007-69228824 |
| region5000 | chr17:69143007-69233824 |
| regionname0 | ABCA10_chr17_69148007_69228824 |
| regionname5000 | ABCA10_chr17_69143007_69233824 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr17:69154324
|
C | CACCTGGA others(1): Show |
0.1035 | frameshift_variant others(1): Show |
HIGH | HG00639.hp1 HG01069.hp1 HG01071.hp1 others(33): Show |
a0005a0006a0007 | a0005c0005a0006c0007a0006c0016others(1): Show | a0005c0005t0004a0005c0005t0015a0006c0007t0004others(4): Show | a0005c0005t0004g0184a0005c0005t0004g0199a0005c0005t0004g0213others(32): Show | 36 | 348 | 8 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 31/39 | c.3695-6_3696dupTTCCAGGT | p.Glu1233fs | 4252/6008 | 3696/4632 | 1232/1543 | ||
|
chr17:69182175
|
A | G | 0.6897 | missense_variant | MODERATE | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(237): Show |
a0002a0003a0004others(15): Show | a0002c0002a0002c0015a0003c0003others(24): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(33): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(232): Show | 240 | 348 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 22/39 | c.2747T>C | p.Met916Thr | 3303/6008 | 2747/4632 | 916/1543 | ||
|
chr17:69193976
|
AAT | A | 0.1063 | frameshift_variant | HIGH | HG00639.hp1 HG01069.hp1 HG01071.hp1 others(34): Show |
a0005a0006a0007others(1): Show | a0005c0005a0006c0007a0006c0016others(2): Show | a0005c0005t0004a0005c0005t0015a0006c0007t0004others(5): Show | a0005c0005t0004g0184a0005c0005t0004g0199a0005c0005t0004g0213others(33): Show | 37 | 348 | -2 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 13/39 | c.1357_1358delAT | p.Ile453fs | 1914/6008 | 1357/4632 | 453/1543 | ||
|
chr17:69215890
|
A | T | 0.0517 | stop_gained | HIGH | HG01099.hp2 HG02055.hp1 HG02486.hp2 others(15): Show |
a0005 | a0005c0005a0005c0013a0005c0014 | a0005c0005t0004a0005c0005t0015a0005c0013t0001others(1): Show | a0005c0005t0004g0184a0005c0005t0004g0199a0005c0005t0004g0213others(15): Show | 18 | 348 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 8/39 | c.783T>A | p.Tyr261* | 1339/6008 | 783/4632 | 261/1543 | ||
|
chr17:69216282
|
G | A | 0.5000 | missense_variant | MODERATE | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(171): Show |
a0002a0003a0005others(8): Show | a0002c0002a0002c0015a0003c0003others(14): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(19): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(169): Show | 174 | 348 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 7/39 | c.607C>T | p.Pro203Ser | 1163/6008 | 607/4632 | 203/1543 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr17:69153343
|
C | T | 0.0230 | synonymous_variant | LOW | HG02451.hp2 HG02559.hp2 HG02572.hp1 others(5): Show |
a0005a0008 | a0005c0013a0008c0009 | a0005c0013t0001a0008c0009t0009 | a0005c0013t0001g0039a0005c0013t0001g0049a0008c0009t0009g0004others(4): Show | 8 | 348 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 34/39 | c.4098G>A | p.Pro1366Pro | 4654/6008 | 4098/4632 | 1366/1543 | ||
|
chr17:69219571
|
C | T | 0.5431 | synonymous_variant | LOW | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(186): Show |
a0002a0003a0005others(12): Show | a0002c0002a0002c0015a0003c0003others(19): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(25): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(183): Show | 189 | 348 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 6/39 | c.504G>A | p.Val168Val | 1060/6008 | 504/4632 | 168/1543 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr17:69148056
|
G | A | 0.7069 | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(243): Show |
a0001a0002a0003others(17): Show | a0001c0001a0002c0002a0002c0015others(26): Show | a0001c0001t0006a0001c0001t0017a0002c0002t0001others(35): Show | a0001c0001t0006g0009a0001c0001t0006g0010a0001c0001t0006g0011others(238): Show | 246 | 348 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 39/39 | c.*771C>T | 771 | |||||
|
chr17:69148487
|
C | A | 0.6695 | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(230): Show |
a0002a0003a0004others(14): Show | a0002c0002a0002c0015a0003c0003others(20): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(28): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(225): Show | 233 | 348 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 39/39 | c.*340G>T | 340 | |||||
|
chr17:69148543
|
T | A | 0.6695 | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(230): Show |
a0002a0003a0004others(14): Show | a0002c0002a0002c0015a0003c0003others(20): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(28): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(225): Show | 233 | 348 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 39/39 | c.*284A>T | 284 | |||||
|
chr17:69148743
|
G | T | 0.4224 | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(144): Show |
a0002a0003a0005others(8): Show | a0002c0002a0002c0015a0003c0003others(11): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(14): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(142): Show | 147 | 348 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 39/39 | c.*84C>A | 84 | |||||
|
chr17:69228706
|
G | T | 0.9368 | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(323): Show |
a0001a0002a0003others(22): Show | a0001c0001a0001c0034a0001c0035others(33): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0013others(42): Show | a0001c0001t0002g0001a0001c0001t0002g0012a0001c0001t0002g0026others(317): Show | 326 | 348 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 1/39 | c.-438C>A | 3348 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr17:69150591
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(143): Show |
a0002a0003a0005others(7): Show | a0002c0002a0002c0015a0003c0003others(10): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(13): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(141): Show | 146 | 348 | 0.4195 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 36/38 | c.4398-528G>A | ||||||
|
chr17:69150997
|
G | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(188): Show |
a0002a0003a0005others(13): Show | a0002c0002a0002c0015a0003c0003others(18): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(24): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(184): Show | 191 | 348 | 0.5489 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 36/38 | c.4398-934C>G | ||||||
|
chr17:69151439
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(223): Show |
a0002a0003a0004others(12): Show | a0002c0002a0002c0015a0003c0003others(18): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(26): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(219): Show | 226 | 348 | 0.6494 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 36/38 | c.4397+604G>A | ||||||
|
chr17:69152802
|
GTAAA | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(203): Show |
a0001a0002a0003others(13): Show | a0001c0001a0002c0002a0002c0015others(17): Show | a0001c0001t0002a0002c0002t0001a0002c0002t0005others(23): Show | a0001c0001t0002g0012a0001c0001t0002g0159a0001c0001t0002g0179others(199): Show | 206 | 348 | 0.5920 | -4 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 34/38 | c.4137-325_4137-322delTTTA | ||||||
|
chr17:69152872
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(228): Show |
a0002a0003a0004others(13): Show | a0002c0002a0002c0015a0003c0003others(21): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(29): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(224): Show | 231 | 348 | 0.6638 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 34/38 | c.4137-391C>T | ||||||
|
chr17:69154035
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(339): Show |
a0001a0002a0003others(23): Show | a0001c0001a0001c0034a0001c0035others(34): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(48): Show | a0001c0001t0002g0001a0001c0001t0002g0012a0001c0001t0002g0026others(333): Show | 342 | 348 | 0.9828 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 31/38 | c.3787-26A>G | ||||||
|
chr17:69154420
|
CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(208): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0034a0001c0035others(18): Show | a0001c0001t0002a0001c0001t0013a0001c0034t0002others(22): Show | a0001c0001t0002g0001a0001c0001t0002g0012a0001c0001t0002g0026others(205): Show | 211 | 348 | 0.6063 | -1 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 30/38 | c.3695-95delA | ||||||
|
chr17:69156593
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(223): Show |
a0002a0003a0004others(12): Show | a0002c0002a0002c0015a0003c0003others(18): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(26): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(219): Show | 226 | 348 | 0.6494 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 28/38 | c.3455+239C>T | ||||||
|
chr17:69156752
|
CAAAT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(154): Show |
a0002a0003a0004others(9): Show | a0002c0002a0002c0015a0003c0003others(12): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(15): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(151): Show | 157 | 348 | 0.4512 | -4 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 28/38 | c.3455+76_3455+79delATTT | ||||||
|
chr17:69157245
|
A | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(144): Show |
a0002a0003a0005others(8): Show | a0002c0002a0002c0015a0003c0003others(11): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(14): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(142): Show | 147 | 348 | 0.4224 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 27/38 | c.3364-322T>G | ||||||
|
chr17:69159157
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(144): Show |
a0002a0003a0005others(8): Show | a0002c0002a0002c0015a0003c0003others(11): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(14): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(142): Show | 147 | 348 | 0.4224 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 27/38 | c.3364-2234C>T | ||||||
|
chr17:69159483
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(144): Show |
a0002a0003a0005others(8): Show | a0002c0002a0002c0015a0003c0003others(11): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(14): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(142): Show | 147 | 348 | 0.4224 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 27/38 | c.3364-2560C>T | ||||||
|
chr17:69160620
|
C | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(138): Show |
a0002a0003a0005others(7): Show | a0002c0002a0002c0015a0003c0003others(10): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(13): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(136): Show | 141 | 348 | 0.4052 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 27/38 | c.3363+3454G>T | ||||||
|
chr17:69162413
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(144): Show |
a0002a0003a0005others(8): Show | a0002c0002a0002c0015a0003c0003others(11): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(14): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(142): Show | 147 | 348 | 0.4224 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 27/38 | c.3363+1661G>A | ||||||
|
chr17:69162755
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(144): Show |
a0002a0003a0005others(8): Show | a0002c0002a0002c0015a0003c0003others(11): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(14): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(142): Show | 147 | 348 | 0.4224 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 27/38 | c.3363+1319C>T | ||||||
|
chr17:69162838
|
C | CATATACA others(21): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01975.hp1 HG02004.hp1 others(20): Show |
a0002a0003a0004others(2): Show | a0002c0002a0003c0003a0004c0004others(3): Show | a0002c0002t0001a0003c0003t0001a0003c0003t0005others(4): Show | a0002c0002t0001g0032a0002c0002t0001g0036a0002c0002t0001g0037others(20): Show | 23 | 348 | 0.0661 | 28 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 27/38 | c.3363+1235_3363+1236insATATGTATATGTATATGTATATGTATAT | ||||||
|
chr17:69162923
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(144): Show |
a0002a0003a0005others(8): Show | a0002c0002a0002c0015a0003c0003others(11): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(14): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(142): Show | 147 | 348 | 0.4224 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 27/38 | c.3363+1151G>A | ||||||
|
chr17:69162941
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(227): Show |
a0002a0003a0004others(14): Show | a0002c0002a0002c0015a0003c0003others(20): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(28): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(222): Show | 230 | 348 | 0.6609 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 27/38 | c.3363+1133C>T | ||||||
|
chr17:69163291
|
C | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(237): Show |
a0002a0003a0004others(16): Show | a0002c0002a0002c0015a0003c0003others(25): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(33): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(232): Show | 240 | 348 | 0.6897 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 27/38 | c.3363+783G>C | ||||||
|
chr17:69163349
|
G | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(144): Show |
a0002a0003a0005others(8): Show | a0002c0002a0002c0015a0003c0003others(11): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(14): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(142): Show | 147 | 348 | 0.4224 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 27/38 | c.3363+725C>A | ||||||
|
chr17:69164045
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(144): Show |
a0002a0003a0005others(8): Show | a0002c0002a0002c0015a0003c0003others(11): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(14): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(142): Show | 147 | 348 | 0.4224 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 27/38 | c.3363+29A>G | ||||||
|
chr17:69165369
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(145): Show |
a0002a0003a0005others(9): Show | a0002c0002a0002c0015a0003c0003others(12): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(15): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(143): Show | 148 | 348 | 0.4253 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 25/38 | c.3163-286A>G | ||||||
|
chr17:69166339
|
C | CA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(146): Show |
a0001a0002a0003others(9): Show | a0001c0001a0002c0002a0002c0015others(12): Show | a0001c0001t0002a0002c0002t0001a0002c0002t0005others(16): Show | a0001c0001t0002g0028a0001c0001t0002g0030a0002c0002t0001g0002others(144): Show | 149 | 348 | 0.4282 | 1 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 25/38 | c.3163-1257dupT | ||||||
|
chr17:69166371
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(144): Show |
a0002a0003a0005others(8): Show | a0002c0002a0002c0015a0003c0003others(11): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(14): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(142): Show | 147 | 348 | 0.4224 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 25/38 | c.3163-1288A>G | ||||||
|
chr17:69167526
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(230): Show |
a0002a0003a0004others(14): Show | a0002c0002a0002c0015a0003c0003others(20): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(28): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(225): Show | 233 | 348 | 0.6695 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 25/38 | c.3163-2443G>A | ||||||
|
chr17:69167905
|
T | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(144): Show |
a0002a0003a0005others(8): Show | a0002c0002a0002c0015a0003c0003others(11): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(14): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(142): Show | 147 | 348 | 0.4224 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 25/38 | c.3163-2822A>T | ||||||
|
chr17:69168279
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(237): Show |
a0002a0003a0004others(16): Show | a0002c0002a0002c0015a0003c0003others(25): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(33): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(232): Show | 240 | 348 | 0.6897 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 25/38 | c.3163-3196T>C | ||||||
|
chr17:69168493
|
C | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(339): Show |
a0001a0002a0003others(23): Show | a0001c0001a0001c0034a0001c0035others(34): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(48): Show | a0001c0001t0002g0001a0001c0001t0002g0012a0001c0001t0002g0026others(333): Show | 342 | 348 | 0.9828 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 25/38 | c.3163-3410G>C | ||||||
|
chr17:69169043
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(144): Show |
a0002a0003a0005others(8): Show | a0002c0002a0002c0015a0003c0003others(11): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(14): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(142): Show | 147 | 348 | 0.4224 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 25/38 | c.3163-3960C>T | ||||||
|
chr17:69170010
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(145): Show |
a0002a0003a0004others(9): Show | a0002c0002a0002c0015a0003c0003others(12): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(15): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(143): Show | 148 | 348 | 0.4253 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 25/38 | c.3162+4271C>T | ||||||
|
chr17:69170287
|
CAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(104): Show |
a0003a0004a0005others(8): Show | a0003c0003a0003c0025a0004c0004others(13): Show | a0003c0003t0001a0003c0003t0016a0003c0025t0001others(18): Show | a0003c0003t0001g0056a0003c0003t0001g0071a0003c0003t0001g0088others(103): Show | 107 | 348 | 0.3075 | -2 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 25/38 | c.3162+3992_3162+3993delTT | ||||||
|
chr17:69170437
|
CA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(179): Show |
a0001a0002a0003others(11): Show | a0001c0001a0002c0002a0002c0015others(16): Show | a0001c0001t0017a0002c0002t0001a0002c0002t0005others(22): Show | a0001c0001t0017g0332a0002c0002t0001g0002a0002c0002t0001g0008others(176): Show | 182 | 348 | 0.5230 | -1 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 25/38 | c.3162+3843delT | ||||||
|
chr17:69170807
|
C | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(237): Show |
a0002a0003a0004others(16): Show | a0002c0002a0002c0015a0003c0003others(25): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(33): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(232): Show | 240 | 348 | 0.6897 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 25/38 | c.3162+3474G>T | ||||||
|
chr17:69170852
|
A | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(144): Show |
a0002a0003a0005others(8): Show | a0002c0002a0002c0015a0003c0003others(11): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(14): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(142): Show | 147 | 348 | 0.4224 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 25/38 | c.3162+3429T>A | ||||||
|
chr17:69171658
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(144): Show |
a0002a0003a0005others(8): Show | a0002c0002a0002c0015a0003c0003others(11): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(14): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(142): Show | 147 | 348 | 0.4224 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 25/38 | c.3162+2623A>G | ||||||
|
chr17:69172802
|
G | GGTT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(230): Show |
a0002a0003a0004others(14): Show | a0002c0002a0002c0015a0003c0003others(20): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(28): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(225): Show | 233 | 348 | 0.6695 | 3 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 25/38 | c.3162+1476_3162+1478dupAAC | ||||||
|
chr17:69173269
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(144): Show |
a0002a0003a0005others(8): Show | a0002c0002a0002c0015a0003c0003others(11): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(14): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(142): Show | 147 | 348 | 0.4224 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 25/38 | c.3162+1012G>A | ||||||
|
chr17:69173359
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(237): Show |
a0002a0003a0004others(16): Show | a0002c0002a0002c0015a0003c0003others(25): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(33): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(232): Show | 240 | 348 | 0.6897 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 25/38 | c.3162+922G>A | ||||||
|
chr17:69174595
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(230): Show |
a0002a0003a0004others(14): Show | a0002c0002a0002c0015a0003c0003others(20): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(28): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(225): Show | 233 | 348 | 0.6695 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 24/38 | c.3048+12T>C | ||||||
|
chr17:69175607
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(144): Show |
a0002a0003a0005others(8): Show | a0002c0002a0002c0015a0003c0003others(11): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(14): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(142): Show | 147 | 348 | 0.4224 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 22/38 | c.2770-94T>C | ||||||
|
chr17:69176890
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(144): Show |
a0002a0003a0005others(8): Show | a0002c0002a0002c0015a0003c0003others(11): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(14): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(142): Show | 147 | 348 | 0.4224 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 22/38 | c.2770-1377T>C | ||||||
|
chr17:69176932
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(344): Show |
a0001a0002a0003others(23): Show | a0001c0001a0001c0034a0001c0035others(34): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(48): Show | a0001c0001t0002g0001a0001c0001t0002g0012a0001c0001t0002g0026others(338): Show | 347 | 348 | 0.9971 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 22/38 | c.2770-1419A>G | ||||||
|
chr17:69177971
|
A | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(55): Show |
a0002a0003a0004others(6): Show | a0002c0002a0003c0003a0003c0025others(10): Show | a0002c0002t0001a0003c0003t0001a0003c0025t0001others(11): Show | a0002c0002t0001g0016a0002c0002t0001g0022a0002c0002t0001g0025others(54): Show | 58 | 348 | 0.1667 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 22/38 | c.2770-2458T>A | ||||||
|
chr17:69177972
|
A | ATATATAT others(39): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02647.hp2 HG02965.hp2 |
a0005 | a0005c0013a0005c0014 | a0005c0013t0001a0005c0014t0001 | a0005c0013t0001g0039a0005c0013t0001g0049a0005c0014t0001g0139 | 3 | 348 | 0.0086 | 46 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 22/38 | c.2770-2460_2770-2459insACATATATATATATATATATATATAACATATATATATATATATATA | ||||||
|
chr17:69177973
|
A | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(196): Show |
a0001a0002a0003others(13): Show | a0001c0001a0002c0002a0002c0015others(20): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0017others(29): Show | a0001c0001t0002g0066a0001c0001t0002g0147a0001c0001t0002g0154others(191): Show | 199 | 348 | 0.5718 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 22/38 | c.2770-2460T>A | ||||||
|
chr17:69179009
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(144): Show |
a0002a0003a0005others(8): Show | a0002c0002a0002c0015a0003c0003others(11): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(14): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(142): Show | 147 | 348 | 0.4224 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 22/38 | c.2769+3144A>G | ||||||
|
chr17:69179205
|
C | CA | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(148): Show |
a0002a0003a0005others(9): Show | a0002c0002a0002c0015a0003c0003others(12): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(15): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(145): Show | 151 | 348 | 0.4339 | 1 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 22/38 | c.2769+2947dupT | ||||||
|
chr17:69179527
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(143): Show |
a0002a0003a0005others(7): Show | a0002c0002a0002c0015a0003c0003others(10): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(13): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(141): Show | 146 | 348 | 0.4195 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 22/38 | c.2769+2626G>A | ||||||
|
chr17:69179626
|
C | CA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(143): Show |
a0002a0003a0005others(7): Show | a0002c0002a0002c0015a0003c0003others(10): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(13): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(141): Show | 146 | 348 | 0.4195 | 1 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 22/38 | c.2769+2526dupT | ||||||
|
chr17:69181422
|
T | C | intron_variant | MODIFIER | HG02559.hp2 HG02647.hp2 HG02809.hp1 others(1): Show |
a0005 | a0005c0013a0005c0014 | a0005c0013t0001a0005c0014t0001 | a0005c0013t0001g0039a0005c0013t0001g0049a0005c0014t0001g0139others(1): Show | 4 | 348 | 0.0115 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 22/38 | c.2769+731A>G | ||||||
|
chr17:69182572
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(142): Show |
a0002a0003a0005others(6): Show | a0002c0002a0002c0015a0003c0003others(9): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(12): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(140): Show | 145 | 348 | 0.4167 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 21/38 | c.2631+103T>C | ||||||
|
chr17:69182813
|
C | T | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(222): Show |
a0002a0003a0004others(11): Show | a0002c0002a0002c0015a0003c0003others(17): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(25): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(218): Show | 225 | 348 | 0.6466 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 20/38 | c.2498-5G>A | ||||||
|
chr17:69182835
|
GA | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(150): Show |
a0002a0003a0005others(8): Show | a0002c0002a0002c0015a0003c0003others(12): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(15): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(147): Show | 153 | 348 | 0.4397 | -1 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 20/38 | c.2498-28delT | ||||||
|
chr17:69184779
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(221): Show |
a0002a0003a0004others(11): Show | a0002c0002a0002c0015a0003c0003others(17): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(25): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(217): Show | 224 | 348 | 0.6437 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 20/38 | c.2497+698A>G | ||||||
|
chr17:69184849
|
ATGTG | A | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00438.hp1 others(127): Show |
a0002a0003a0005others(4): Show | a0002c0002a0002c0015a0003c0003others(6): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(8): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(125): Show | 130 | 348 | 0.3736 | -4 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 20/38 | c.2497+624_2497+627delCACA | ||||||
|
chr17:69184869
|
G | A | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00438.hp1 others(127): Show |
a0002a0003a0005others(4): Show | a0002c0002a0002c0015a0003c0003others(6): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(8): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(125): Show | 130 | 348 | 0.3736 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 20/38 | c.2497+608C>T | ||||||
|
chr17:69184871
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(181): Show |
a0002a0003a0004others(8): Show | a0002c0002a0002c0015a0003c0003others(13): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(18): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(178): Show | 184 | 348 | 0.5287 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 20/38 | c.2497+606C>T | ||||||
|
chr17:69184916
|
T | TAC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(20): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(6): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(9): Show | a0001c0001t0002g0166a0001c0001t0002g0257a0001c0001t0006g0224others(20): Show | 23 | 348 | 0.0661 | 2 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 20/38 | c.2497+559_2497+560dupGT | ||||||
|
chr17:69185192
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(222): Show |
a0002a0003a0004others(11): Show | a0002c0002a0002c0015a0003c0003others(17): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(25): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(218): Show | 225 | 348 | 0.6466 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 20/38 | c.2497+285C>T | ||||||
|
chr17:69185399
|
C | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(143): Show |
a0002a0003a0005others(7): Show | a0002c0002a0002c0015a0003c0003others(10): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(13): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(141): Show | 146 | 348 | 0.4195 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 20/38 | c.2497+78G>T | ||||||
|
chr17:69185407
|
T | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(143): Show |
a0002a0003a0005others(7): Show | a0002c0002a0002c0015a0003c0003others(10): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(13): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(141): Show | 146 | 348 | 0.4195 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 20/38 | c.2497+70A>C | ||||||
|
chr17:69187203
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(143): Show |
a0002a0003a0005others(7): Show | a0002c0002a0002c0015a0003c0003others(10): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(13): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(141): Show | 146 | 348 | 0.4195 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 19/38 | c.2330+478C>T | ||||||
|
chr17:69187535
|
C | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(195): Show |
a0002a0003a0004others(10): Show | a0002c0002a0002c0015a0003c0003others(14): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(20): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(191): Show | 198 | 348 | 0.5690 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 19/38 | c.2330+146G>C | ||||||
|
chr17:69188055
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(236): Show |
a0002a0003a0004others(15): Show | a0002c0002a0002c0015a0003c0003others(24): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(32): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(231): Show | 239 | 348 | 0.6868 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 18/38 | c.2132-176C>T | ||||||
|
chr17:69189840
|
G | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(142): Show |
a0002a0003a0005others(6): Show | a0002c0002a0002c0015a0003c0003others(9): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(12): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(140): Show | 145 | 348 | 0.4167 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 18/38 | c.2131+518C>G | ||||||
|
chr17:69191657
|
A | ATG | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(242): Show |
a0001a0002a0003others(16): Show | a0001c0001a0002c0002a0002c0015others(25): Show | a0001c0001t0006a0001c0001t0017a0002c0002t0001others(34): Show | a0001c0001t0006g0009a0001c0001t0006g0010a0001c0001t0006g0011others(237): Show | 245 | 348 | 0.7040 | 2 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 16/38 | c.1872-344_1872-343dupCA | ||||||
|
chr17:69191800
|
G | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(187): Show |
a0002a0003a0005others(12): Show | a0002c0002a0002c0015a0003c0003others(17): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(23): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(183): Show | 190 | 348 | 0.5460 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 16/38 | c.1872-485C>G | ||||||
|
chr17:69192312
|
A | AAAAC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(235): Show |
a0002a0003a0004others(15): Show | a0002c0002a0002c0015a0003c0003others(24): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(32): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(230): Show | 238 | 348 | 0.6839 | 4 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 16/38 | c.1871+247_1871+250dupGTTT | ||||||
|
chr17:69192435
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(323): Show |
a0001a0002a0003others(22): Show | a0001c0001a0001c0034a0001c0035others(33): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(45): Show | a0001c0001t0002g0001a0001c0001t0002g0012a0001c0001t0002g0026others(317): Show | 326 | 348 | 0.9368 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 16/38 | c.1871+128T>C | ||||||
|
chr17:69192527
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(344): Show |
a0001a0002a0003others(23): Show | a0001c0001a0001c0034a0001c0035others(34): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(48): Show | a0001c0001t0002g0001a0001c0001t0002g0012a0001c0001t0002g0026others(338): Show | 347 | 348 | 0.9971 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 16/38 | c.1871+36A>G | ||||||
|
chr17:69195307
|
T | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(242): Show |
a0001a0002a0003others(16): Show | a0001c0001a0002c0002a0002c0015others(25): Show | a0001c0001t0006a0001c0001t0017a0002c0002t0001others(34): Show | a0001c0001t0006g0009a0001c0001t0006g0010a0001c0001t0006g0011others(237): Show | 245 | 348 | 0.7040 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 11/38 | c.1235-812A>C | ||||||
|
chr17:69195554
|
C | CTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(171): Show |
a0002a0003a0005others(12): Show | a0002c0002a0002c0015a0003c0003others(17): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(22): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0015others(167): Show | 174 | 348 | 0.5000 | 6 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 11/38 | c.1235-1065_1235-1060dupAAAAAA | ||||||
|
chr17:69196614
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(142): Show |
a0002a0003a0005others(6): Show | a0002c0002a0002c0015a0003c0003others(9): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(12): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(140): Show | 145 | 348 | 0.4167 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 11/38 | c.1234+450C>T | ||||||
|
chr17:69197009
|
A | AGGGAGGG others(5): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00738.hp1 HG01256.hp1 others(10): Show |
a0003a0005a0015others(1): Show | a0003c0003a0005c0013a0005c0014others(2): Show | a0003c0003t0001a0005c0013t0001a0005c0014t0001others(2): Show | a0003c0003t0001g0057a0003c0003t0001g0088a0003c0003t0001g0089others(10): Show | 13 | 348 | 0.0374 | 12 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 11/38 | c.1234+43_1234+54dupCCTCCCCCTCCC | ||||||
|
chr17:69198976
|
G | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(236): Show |
a0002a0003a0004others(15): Show | a0002c0002a0002c0015a0003c0003others(24): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(32): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(231): Show | 239 | 348 | 0.6868 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 10/38 | c.1176-1854C>G | ||||||
|
chr17:69199266
|
C | CTTCTT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(235): Show |
a0002a0003a0004others(15): Show | a0002c0002a0002c0015a0003c0003others(24): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(31): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(230): Show | 238 | 348 | 0.6839 | 5 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 10/38 | c.1176-2145_1176-2144insAAGAA | ||||||
|
chr17:69199442
|
C | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(241): Show |
a0001a0002a0003others(16): Show | a0001c0001a0002c0002a0002c0015others(25): Show | a0001c0001t0006a0002c0002t0001a0002c0002t0005others(33): Show | a0001c0001t0006g0009a0001c0001t0006g0010a0001c0001t0006g0011others(236): Show | 244 | 348 | 0.7012 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 10/38 | c.1175+2058G>C | ||||||
|
chr17:69199691
|
A | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(147): Show |
a0002a0003a0005others(8): Show | a0002c0002a0002c0015a0003c0003others(12): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(15): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(145): Show | 150 | 348 | 0.4310 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 10/38 | c.1175+1809T>G | ||||||
|
chr17:69200211
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(242): Show |
a0001a0002a0003others(16): Show | a0001c0001a0002c0002a0002c0015others(25): Show | a0001c0001t0006a0001c0001t0017a0002c0002t0001others(34): Show | a0001c0001t0006g0009a0001c0001t0006g0010a0001c0001t0006g0011others(237): Show | 245 | 348 | 0.7040 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 10/38 | c.1175+1289T>C | ||||||
|
chr17:69201334
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(147): Show |
a0002a0003a0005others(8): Show | a0002c0002a0002c0015a0003c0003others(12): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(15): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(145): Show | 150 | 348 | 0.4310 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 10/38 | c.1175+166A>G | ||||||
|
chr17:69201350
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(143): Show |
a0002a0003a0005others(7): Show | a0002c0002a0002c0015a0003c0003others(10): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(13): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(141): Show | 146 | 348 | 0.4195 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 10/38 | c.1175+150A>G | ||||||
|
chr17:69202778
|
C | CTT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(236): Show |
a0002a0003a0004others(15): Show | a0002c0002a0002c0015a0003c0003others(24): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(32): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(231): Show | 239 | 348 | 0.6868 | 2 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 9/38 | c.1007-1111_1007-1110insAA | ||||||
|
chr17:69203505
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(225): Show |
a0002a0003a0004others(12): Show | a0002c0002a0002c0015a0003c0003others(18): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(26): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(221): Show | 228 | 348 | 0.6552 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 9/38 | c.1007-1837G>A | ||||||
|
chr17:69204660
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(235): Show |
a0002a0003a0004others(15): Show | a0002c0002a0002c0015a0003c0003others(24): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(32): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(230): Show | 238 | 348 | 0.6839 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 9/38 | c.1007-2992T>C | ||||||
|
chr17:69204867
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(236): Show |
a0002a0003a0004others(15): Show | a0002c0002a0002c0015a0003c0003others(24): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(32): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(231): Show | 239 | 348 | 0.6868 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 9/38 | c.1007-3199T>C | ||||||
|
chr17:69206390
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(194): Show |
a0002a0003a0005others(14): Show | a0002c0002a0002c0015a0003c0003others(22): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(28): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(190): Show | 197 | 348 | 0.5661 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 9/38 | c.1007-4722A>G | ||||||
|
chr17:69207323
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(194): Show |
a0002a0003a0005others(14): Show | a0002c0002a0002c0015a0003c0003others(22): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(28): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(190): Show |