| geneid | 10350 |
|---|---|
| ensemblid | ENSG00000154258.17 |
| hgncid | 39 |
| symbol | ABCA9 |
| name | ATP binding cassette subfamily A member 9 |
| refseq_nuc | NM_080283.4 |
| refseq_prot | NP_525022.2 |
| ensembl_nuc | ENST00000340001.9 |
| ensembl_prot | ENSP00000342216.3 |
| mane_status | MANE Select |
| chr | chr17 |
| start | 68974488 |
| end | 69060927 |
| strand | - |
| ver | v1.2 |
| region | chr17:68974488-69060927 |
| region5000 | chr17:68969488-69065927 |
| regionname0 | ABCA9_chr17_68974488_69060927 |
| regionname5000 | ABCA9_chr17_68969488_69065927 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr17:68989851
|
T | G | 0.3782 | missense_variant | MODERATE | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(115): Show |
a0002a0006a0013others(4): Show | a0002c0002a0002c0004a0002c0026others(8): Show | a0002c0002t0002a0002c0002t0007a0002c0004t0002others(9): Show | a0002c0002t0002g0002a0002c0002t0002g0005a0002c0002t0002g0006others(111): Show | 118 | 312 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 30/39 | c.3917A>C | p.Lys1306Thr | 3992/6377 | 3917/4875 | 1306/1624 | ||
|
chr17:69035316
|
C | T | 0.8910 | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(275): Show |
a0001a0002a0004others(19): Show | a0001c0001a0001c0007a0001c0008others(28): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(36): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0061others(263): Show | 278 | 312 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 8/39 | c.1058G>A | p.Arg353His | 1133/6377 | 1058/4875 | 353/1624 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr17:69032119
|
T | C | 0.3526 | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(107): Show |
a0001a0002a0006others(4): Show | a0001c0007a0001c0029a0002c0002others(8): Show | a0001c0007t0001a0001c0007t0004a0001c0029t0001others(10): Show | a0001c0007t0001g0008a0001c0007t0001g0090a0001c0007t0001g0115others(102): Show | 110 | 312 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 10/39 | c.1434A>G | p.Lys478Lys | 1509/6377 | 1434/4875 | 478/1624 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr17:68974804
|
G | A | 0.5801 | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(178): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0007a0001c0021others(24): Show | a0001c0001t0003a0001c0001t0006a0001c0007t0004others(28): Show | a0001c0001t0003g0165a0001c0001t0006g0051a0001c0001t0006g0052others(168): Show | 181 | 312 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 39/39 | c.*1111C>T | 1111 | |||||
|
chr17:68975434
|
G | C | 0.3782 | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(115): Show |
a0002a0006a0013others(4): Show | a0002c0002a0002c0004a0002c0026others(8): Show | a0002c0002t0002a0002c0002t0007a0002c0004t0002others(9): Show | a0002c0002t0002g0002a0002c0002t0002g0005a0002c0002t0002g0006others(111): Show | 118 | 312 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 39/39 | c.*481C>G | 481 | |||||
|
chr17:68975554
|
AAAAT | A | 0.5801 | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(178): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0007a0001c0021others(24): Show | a0001c0001t0003a0001c0001t0006a0001c0007t0004others(28): Show | a0001c0001t0003g0165a0001c0001t0006g0051a0001c0001t0006g0052others(168): Show | 181 | 312 | -4 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 39/39 | c.*357_*360delATTT | 357 | |||||
|
chr17:68975738
|
T | C | 0.3814 | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(116): Show |
a0001a0002a0006others(5): Show | a0001c0001a0002c0002a0002c0004others(9): Show | a0001c0001t0011a0002c0002t0002a0002c0002t0007others(10): Show | a0001c0001t0011g0249a0002c0002t0002g0002a0002c0002t0002g0005others(112): Show | 119 | 312 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 39/39 | c.*177A>G | 177 | |||||
|
chr17:68975757
|
C | T | 0.3782 | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(115): Show |
a0002a0006a0013others(4): Show | a0002c0002a0002c0004a0002c0026others(8): Show | a0002c0002t0002a0002c0002t0007a0002c0004t0002others(9): Show | a0002c0002t0002g0002a0002c0002t0002g0005a0002c0002t0002g0006others(111): Show | 118 | 312 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 39/39 | c.*158G>A | 158 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr17:68976109
|
A | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(115): Show |
a0002a0006a0013others(4): Show | a0002c0002a0002c0004a0002c0026others(8): Show | a0002c0002t0002a0002c0002t0007a0002c0004t0002others(9): Show | a0002c0002t0002g0002a0002c0002t0002g0005a0002c0002t0002g0006others(111): Show | 118 | 312 | 0.3782 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 38/38 | c.4776+26T>A | ||||||
|
chr17:68977037
|
TGAA | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(115): Show |
a0002a0006a0013others(4): Show | a0002c0002a0002c0004a0002c0026others(8): Show | a0002c0002t0002a0002c0002t0007a0002c0004t0002others(9): Show | a0002c0002t0002g0002a0002c0002t0002g0005a0002c0002t0002g0006others(111): Show | 118 | 312 | 0.3782 | -3 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 37/38 | c.4721-850_4721-848delTTC | ||||||
|
chr17:68978934
|
C | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(115): Show |
a0002a0006a0013others(4): Show | a0002c0002a0002c0004a0002c0026others(8): Show | a0002c0002t0002a0002c0002t0007a0002c0004t0002others(9): Show | a0002c0002t0002g0002a0002c0002t0002g0005a0002c0002t0002g0006others(111): Show | 118 | 312 | 0.3782 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 37/38 | c.4721-2744G>T | ||||||
|
chr17:68979306
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(308): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0007a0001c0008others(29): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(41): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0061others(294): Show | 311 | 312 | 0.9968 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 37/38 | c.4721-3116C>T | ||||||
|
chr17:68979486
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(177): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0007a0002c0002others(23): Show | a0001c0001t0003a0001c0001t0006a0001c0007t0004others(27): Show | a0001c0001t0003g0165a0001c0001t0006g0051a0001c0001t0006g0052others(167): Show | 180 | 312 | 0.5769 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 37/38 | c.4720+3076C>T | ||||||
|
chr17:68980364
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(178): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0007a0001c0021others(24): Show | a0001c0001t0003a0001c0001t0006a0001c0007t0004others(28): Show | a0001c0001t0003g0165a0001c0001t0006g0051a0001c0001t0006g0052others(168): Show | 181 | 312 | 0.5801 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 37/38 | c.4720+2198T>C | ||||||
|
chr17:68981127
|
C | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(234): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0007a0001c0008others(27): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(36): Show | a0001c0001t0001g0012a0001c0001t0001g0163a0001c0001t0001g0164others(222): Show | 237 | 312 | 0.7596 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 37/38 | c.4720+1435G>C | ||||||
|
chr17:68981835
|
C | CA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(125): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0007a0001c0008others(16): Show | a0001c0001t0001a0001c0001t0008a0001c0007t0001others(20): Show | a0001c0001t0001g0164a0001c0001t0001g0176a0001c0001t0001g0219others(121): Show | 128 | 312 | 0.4103 | 1 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 37/38 | c.4720+726dupT | ||||||
|
chr17:68983558
|
T | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(178): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0007a0001c0021others(24): Show | a0001c0001t0003a0001c0001t0006a0001c0007t0004others(28): Show | a0001c0001t0003g0165a0001c0001t0006g0051a0001c0001t0006g0052others(168): Show | 181 | 312 | 0.5801 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 36/38 | c.4640+151A>C | ||||||
|
chr17:68985345
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(115): Show |
a0002a0006a0013others(4): Show | a0002c0002a0002c0004a0002c0026others(8): Show | a0002c0002t0002a0002c0002t0007a0002c0004t0002others(9): Show | a0002c0002t0002g0002a0002c0002t0002g0005a0002c0002t0002g0006others(111): Show | 118 | 312 | 0.3782 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 32/38 | c.4209-217G>A | ||||||
|
chr17:68985511
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(115): Show |
a0002a0006a0013others(4): Show | a0002c0002a0002c0004a0002c0026others(8): Show | a0002c0002t0002a0002c0002t0007a0002c0004t0002others(9): Show | a0002c0002t0002g0002a0002c0002t0002g0005a0002c0002t0002g0006others(111): Show | 118 | 312 | 0.3782 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 32/38 | c.4209-383T>C | ||||||
|
chr17:68987612
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(179): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0007a0001c0021others(24): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(29): Show | a0001c0001t0001g0253a0001c0001t0003g0165a0001c0001t0006g0051others(169): Show | 182 | 312 | 0.5833 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 31/38 | c.4048-1288T>C | ||||||
|
chr17:68987761
|
TG | T | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(66): Show |
a0001a0002a0003others(4): Show | a0001c0007a0002c0002a0002c0004others(8): Show | a0001c0007t0004a0002c0002t0002a0002c0004t0002others(9): Show | a0001c0007t0004g0093a0002c0002t0002g0005a0002c0002t0002g0011others(64): Show | 69 | 312 | 0.2212 | -1 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 31/38 | c.4047+1265delC | ||||||
|
chr17:68987766
|
G | T | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(89): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0007a0001c0021others(13): Show | a0001c0001t0003a0001c0007t0004a0001c0021t0003others(15): Show | a0001c0001t0003g0165a0001c0007t0004g0093a0001c0021t0003g0015others(87): Show | 92 | 312 | 0.2949 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 31/38 | c.4047+1261C>A | ||||||
|
chr17:68987774
|
G | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(156): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0007a0001c0021others(19): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(24): Show | a0001c0001t0001g0253a0001c0001t0003g0165a0001c0001t0006g0051others(150): Show | 159 | 312 | 0.5096 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 31/38 | c.4047+1253C>A | ||||||
|
chr17:68989256
|
T | TCTCTCA | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG01192.hp2 others(38): Show |
a0002a0011 | a0002c0002a0002c0004a0002c0026others(1): Show | a0002c0002t0002a0002c0004t0002a0002c0026t0002others(1): Show | a0002c0002t0002g0011a0002c0002t0002g0064a0002c0002t0002g0065others(38): Show | 41 | 312 | 0.1314 | 6 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 30/38 | c.3956-139_3956-138insTGAGAG | ||||||
|
chr17:68990021
|
A | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(308): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0007a0001c0008others(29): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(41): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0061others(294): Show | 311 | 312 | 0.9968 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 29/38 | c.3838-91T>G | ||||||
|
chr17:68991061
|
A | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(178): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0007a0001c0021others(24): Show | a0001c0001t0003a0001c0001t0006a0001c0007t0004others(28): Show | a0001c0001t0003g0165a0001c0001t0006g0051a0001c0001t0006g0052others(168): Show | 181 | 312 | 0.5801 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 28/38 | c.3717-104T>A | ||||||
|
chr17:68991113
|
C | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(178): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0007a0001c0021others(24): Show | a0001c0001t0003a0001c0001t0006a0001c0007t0004others(28): Show | a0001c0001t0003g0165a0001c0001t0006g0051a0001c0001t0006g0052others(168): Show | 181 | 312 | 0.5801 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 28/38 | c.3717-156G>C | ||||||
|
chr17:68991275
|
A | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(115): Show |
a0002a0006a0013others(4): Show | a0002c0002a0002c0004a0002c0026others(8): Show | a0002c0002t0002a0002c0002t0007a0002c0004t0002others(9): Show | a0002c0002t0002g0002a0002c0002t0002g0005a0002c0002t0002g0006others(111): Show | 118 | 312 | 0.3782 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 28/38 | c.3717-318T>G | ||||||
|
chr17:68991405
|
C | A | intron_variant | MODIFIER | NA18990.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0091 | 1 | 312 | 0.0032 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 28/38 | c.3717-448G>T | ||||||
|
chr17:68992825
|
AG | A | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00438.hp1 others(151): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0007a0001c0021others(20): Show | a0001c0001t0003a0001c0001t0006a0001c0007t0004others(24): Show | a0001c0001t0003g0165a0001c0001t0006g0051a0001c0001t0006g0052others(145): Show | 154 | 312 | 0.4936 | -1 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 27/38 | c.3624+190delC | ||||||
|
chr17:68995698
|
TG | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(175): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0007a0001c0021others(23): Show | a0001c0001t0003a0001c0001t0006a0001c0007t0004others(27): Show | a0001c0001t0003g0165a0001c0001t0006g0051a0001c0001t0006g0052others(165): Show | 178 | 312 | 0.5705 | -1 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 26/38 | c.3555+196delC | ||||||
|
chr17:68997594
|
CT | C | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(80): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0007a0001c0021others(11): Show | a0001c0001t0001a0001c0007t0004a0001c0021t0003others(13): Show | a0001c0001t0001g0007a0001c0001t0001g0168a0001c0001t0001g0195others(77): Show | 83 | 312 | 0.2660 | -1 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 25/38 | c.3436-1581delA | ||||||
|
chr17:68997707
|
A | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(181): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0007a0001c0021others(23): Show | a0001c0001t0003a0001c0001t0006a0001c0007t0001others(28): Show | a0001c0001t0003g0165a0001c0001t0006g0051a0001c0001t0006g0052others(171): Show | 184 | 312 | 0.5897 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 25/38 | c.3436-1693T>G | ||||||
|
chr17:68998646
|
A | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(121): Show |
a0001a0002a0004others(6): Show | a0001c0007a0002c0002a0002c0004others(10): Show | a0001c0007t0001a0001c0007t0004a0002c0002t0002others(12): Show | a0001c0007t0001g0090a0001c0007t0001g0115a0001c0007t0001g0116others(117): Show | 124 | 312 | 0.3974 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 25/38 | c.3436-2632T>G | ||||||
|
chr17:68999271
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(181): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0007a0001c0021others(23): Show | a0001c0001t0003a0001c0001t0006a0001c0007t0001others(28): Show | a0001c0001t0003g0165a0001c0001t0006g0051a0001c0001t0006g0052others(171): Show | 184 | 312 | 0.5897 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 25/38 | c.3436-3257A>G | ||||||
|
chr17:69000607
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(181): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0007a0001c0021others(23): Show | a0001c0001t0003a0001c0001t0006a0001c0007t0001others(28): Show | a0001c0001t0003g0165a0001c0001t0006g0051a0001c0001t0006g0052others(171): Show | 184 | 312 | 0.5897 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 25/38 | c.3436-4593A>G | ||||||
|
chr17:69001147
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(181): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0007a0001c0021others(23): Show | a0001c0001t0003a0001c0001t0006a0001c0007t0001others(28): Show | a0001c0001t0003g0165a0001c0001t0006g0051a0001c0001t0006g0052others(171): Show | 184 | 312 | 0.5897 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 25/38 | c.3436-5133A>G | ||||||
|
chr17:69003008
|
G | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(181): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0007a0001c0021others(23): Show | a0001c0001t0003a0001c0001t0006a0001c0007t0001others(28): Show | a0001c0001t0003g0165a0001c0001t0006g0051a0001c0001t0006g0052others(171): Show | 184 | 312 | 0.5897 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 25/38 | c.3435+4751C>A | ||||||
|
chr17:69003487
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(181): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0007a0001c0021others(23): Show | a0001c0001t0003a0001c0001t0006a0001c0007t0001others(28): Show | a0001c0001t0003g0165a0001c0001t0006g0051a0001c0001t0006g0052others(171): Show | 184 | 312 | 0.5897 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 25/38 | c.3435+4272T>C | ||||||
|
chr17:69004466
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(121): Show |
a0001a0002a0004others(6): Show | a0001c0007a0002c0002a0002c0004others(10): Show | a0001c0007t0001a0001c0007t0004a0002c0002t0002others(12): Show | a0001c0007t0001g0090a0001c0007t0001g0115a0001c0007t0001g0116others(117): Show | 124 | 312 | 0.3974 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 25/38 | c.3435+3293G>A | ||||||
|
chr17:69004786
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(181): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0007a0001c0021others(23): Show | a0001c0001t0003a0001c0001t0006a0001c0007t0001others(28): Show | a0001c0001t0003g0165a0001c0001t0006g0051a0001c0001t0006g0052others(171): Show | 184 | 312 | 0.5897 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 25/38 | c.3435+2973A>G | ||||||
|
chr17:69004896
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(181): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0007a0001c0021others(23): Show | a0001c0001t0003a0001c0001t0006a0001c0007t0001others(28): Show | a0001c0001t0003g0165a0001c0001t0006g0051a0001c0001t0006g0052others(171): Show | 184 | 312 | 0.5897 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 25/38 | c.3435+2863A>G | ||||||
|
chr17:69005427
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(232): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0007a0001c0008others(27): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(36): Show | a0001c0001t0001g0012a0001c0001t0001g0163a0001c0001t0001g0164others(220): Show | 235 | 312 | 0.7532 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 25/38 | c.3435+2332T>C | ||||||
|
chr17:69006042
|
C | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(180): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0007a0001c0021others(23): Show | a0001c0001t0003a0001c0001t0006a0001c0007t0001others(28): Show | a0001c0001t0003g0165a0001c0001t0006g0051a0001c0001t0006g0052others(170): Show | 183 | 312 | 0.5865 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 25/38 | c.3435+1717G>T | ||||||
|
chr17:69006169
|
C | G | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG02132.hp1 others(17): Show |
a0002 | a0002c0002a0002c0004 | a0002c0002t0002a0002c0004t0002 | a0002c0002t0002g0011a0002c0002t0002g0088a0002c0002t0002g0091others(17): Show | 20 | 312 | 0.0641 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 25/38 | c.3435+1590G>C | ||||||
|
chr17:69007144
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(120): Show |
a0001a0002a0004others(6): Show | a0001c0007a0002c0002a0002c0004others(10): Show | a0001c0007t0001a0001c0007t0004a0002c0002t0002others(12): Show | a0001c0007t0001g0090a0001c0007t0001g0115a0001c0007t0001g0116others(116): Show | 123 | 312 | 0.3942 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 25/38 | c.3435+615C>T | ||||||
|
chr17:69007200
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(308): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0007a0001c0008others(29): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(41): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0061others(294): Show | 311 | 312 | 0.9968 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 25/38 | c.3435+559A>G | ||||||
|
chr17:69010175
|
T | TA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(139): Show |
a0001a0002a0004others(9): Show | a0001c0001a0001c0007a0002c0002others(14): Show | a0001c0001t0001a0001c0007t0001a0001c0007t0004others(16): Show | a0001c0001t0001g0185a0001c0007t0001g0090a0001c0007t0001g0116others(131): Show | 142 | 312 | 0.4551 | 1 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 23/38 | c.3147+1800dupT | ||||||
|
chr17:69010873
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(180): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0007a0001c0021others(23): Show | a0001c0001t0003a0001c0001t0006a0001c0007t0001others(28): Show | a0001c0001t0003g0165a0001c0001t0006g0051a0001c0001t0006g0052others(170): Show | 183 | 312 | 0.5865 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 23/38 | c.3147+1103G>A | ||||||
|
chr17:69012824
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(181): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0007a0001c0021others(23): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(29): Show | a0001c0001t0001g0244a0001c0001t0003g0165a0001c0001t0006g0051others(171): Show | 184 | 312 | 0.5897 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 22/38 | c.3040-741A>G | ||||||
|
chr17:69015969
|
TTG | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(128): Show |
a0001a0002a0004others(10): Show | a0001c0001a0001c0007a0002c0002others(15): Show | a0001c0001t0003a0001c0001t0006a0001c0007t0001others(18): Show | a0001c0001t0003g0165a0001c0001t0006g0051a0001c0001t0006g0052others(124): Show | 131 | 312 | 0.4199 | -2 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 22/38 | c.3039+282_3039+283delCA | ||||||
|
chr17:69016104
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp2 others(121): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0007a0002c0002others(9): Show | a0001c0001t0003a0001c0007t0001a0001c0007t0004others(11): Show | a0001c0001t0003g0165a0001c0007t0001g0090a0001c0007t0001g0115others(117): Show | 124 | 312 | 0.3974 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 22/38 | c.3039+149T>C | ||||||
|
chr17:69016121
|
TATAC | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp2 others(95): Show |
a0001a0002a0004others(4): Show | a0001c0007a0002c0002a0002c0004others(7): Show | a0001c0007t0001a0001c0007t0004a0002c0002t0002others(9): Show | a0001c0007t0001g0090a0001c0007t0001g0115a0001c0007t0001g0116others(92): Show | 98 | 312 | 0.3141 | -4 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 22/38 | c.3039+128_3039+131delGTAT | ||||||
|
chr17:69021296
|
C | G | intron_variant | MODIFIER | NA18990.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0091 | 1 | 312 | 0.0032 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 18/38 | c.2401+446G>C | ||||||
|
chr17:69022494
|
T | TTG | intron_variant | MODIFIER | HG00733.hp1 HG01192.hp1 HG01192.hp2 others(7): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0007a0002c0002others(3): Show | a0001c0001t0001a0001c0007t0001a0002c0002t0002others(3): Show | a0001c0001t0001g0232a0001c0007t0001g0090a0002c0002t0002g0072others(7): Show | 10 | 312 | 0.0321 | 2 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 17/38 | c.2282-635_2282-634dupCA | ||||||
|
chr17:69024697
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(230): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0007a0001c0008others(27): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(36): Show | a0001c0001t0001g0012a0001c0001t0001g0163a0001c0001t0001g0164others(218): Show | 233 | 312 | 0.7468 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 16/38 | c.2142-344C>T | ||||||
|
chr17:69024994
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(121): Show |
a0001a0002a0004others(6): Show | a0001c0007a0002c0002a0002c0004others(10): Show | a0001c0007t0001a0001c0007t0004a0002c0002t0002others(12): Show | a0001c0007t0001g0090a0001c0007t0001g0115a0001c0007t0001g0116others(117): Show | 124 | 312 | 0.3974 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 16/38 | c.2142-641A>G | ||||||
|
chr17:69025994
|
C | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(132): Show |
a0001a0002a0004others(11): Show | a0001c0001a0001c0007a0002c0002others(16): Show | a0001c0001t0006a0001c0007t0001a0001c0007t0004others(18): Show | a0001c0001t0006g0051a0001c0001t0006g0052a0001c0001t0006g0053others(127): Show | 135 | 312 | 0.4327 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 16/38 | c.2141+383G>T | ||||||
|
chr17:69027614
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(180): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0007a0001c0021others(23): Show | a0001c0001t0003a0001c0001t0006a0001c0007t0001others(28): Show | a0001c0001t0003g0165a0001c0001t0006g0051a0001c0001t0006g0052others(170): Show | 183 | 312 | 0.5865 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 13/38 | c.1791+26T>C | ||||||
|
chr17:69028444
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(180): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0007a0001c0021others(23): Show | a0001c0001t0003a0001c0001t0006a0001c0007t0001others(28): Show | a0001c0001t0003g0165a0001c0001t0006g0051a0001c0001t0006g0052others(170): Show | 183 | 312 | 0.5865 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 12/38 | c.1615+91A>G | ||||||
|
chr17:69028658
|
T | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(180): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0007a0001c0021others(23): Show | a0001c0001t0003a0001c0001t0006a0001c0007t0001others(28): Show | a0001c0001t0003g0165a0001c0001t0006g0051a0001c0001t0006g0052others(170): Show | 183 | 312 | 0.5865 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 11/38 | c.1505-13A>T | ||||||
|
chr17:69031729
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(141): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0007a0002c0002others(12): Show | a0001c0001t0001a0001c0007t0001a0001c0007t0004others(16): Show | a0001c0001t0001g0240a0001c0007t0001g0090a0001c0007t0001g0115others(136): Show | 144 | 312 | 0.4615 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 10/38 | c.1445+379T>C | ||||||
|
chr17:69033303
|
C | CAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(237): Show |
a0001a0002a0004others(9): Show | a0001c0001a0001c0007a0001c0008others(17): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(24): Show | a0001c0001t0001g0007a0001c0001t0001g0162a0001c0001t0001g0163others(226): Show | 240 | 312 | 0.7692 | 4 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 9/38 | c.1276+419_1276+422dupTTTT | ||||||
|
chr17:69035228
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(299): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0007a0001c0008others(29): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(40): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0061others(285): Show | 302 | 312 | 0.9680 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 8/38 | c.1128+18A>G | ||||||
|
chr17:69037345
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp2 others(108): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0007a0002c0002others(7): Show | a0001c0001t0001a0001c0007t0001a0001c0007t0004others(9): Show | a0001c0001t0001g0061a0001c0001t0001g0084a0001c0007t0001g0090others(104): Show | 111 | 312 | 0.3558 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 6/38 | c.801-1544G>A | ||||||
|
chr17:69037975
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(291): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0007a0001c0008others(29): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(39): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0061others(277): Show | 294 | 312 | 0.9423 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 6/38 | c.801-2174T>C | ||||||
|
chr17:69038630
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(275): Show |
a0001a0002a0004others(19): Show | a0001c0001a0001c0007a0001c0008others(28): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(36): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0061others(263): Show | 278 | 312 | 0.8910 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 6/38 | c.801-2829T>C | ||||||
|
chr17:69039737
|
T | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(256): Show |
a0001a0002a0004others(11): Show | a0001c0001a0001c0007a0001c0008others(18): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(25): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0061others(245): Show | 259 | 312 | 0.8301 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 6/38 | c.800+3752A>C | ||||||
|
chr17:69039750
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(291): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0007a0001c0008others(29): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(39): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0061others(277): Show | 294 | 312 | 0.9423 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 6/38 | c.800+3739G>A | ||||||
|
chr17:69040385
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(275): Show |
a0001a0002a0004others(19): Show | a0001c0001a0001c0007a0001c0008others(28): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(36): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0061others(263): Show | 278 | 312 | 0.8910 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 6/38 | c.800+3104A>G | ||||||
|
chr17:69041184
|
G | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(306): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0007a0001c0008others(29): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(41): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0061others(292): Show | 309 | 312 | 0.9904 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 6/38 | c.800+2305C>A | ||||||
|
chr17:69041452
|
A | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(275): Show |
a0001a0002a0004others(19): Show | a0001c0001a0001c0007a0001c0008others(28): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(36): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0061others(263): Show | 278 | 312 | 0.8910 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 6/38 | c.800+2037T>G | ||||||
|
chr17:69041711
|
TA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(305): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0007a0001c0008others(29): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(41): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0061others(291): Show | 308 | 312 | 0.9872 | -1 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 6/38 | c.800+1777delT | ||||||
|
chr17:69041729
|
T | TTATCTAT others(1): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00642.hp1 HG00733.hp2 others(86): Show |
a0001a0002a0005others(6): Show | a0001c0001a0001c0007a0002c0002others(8): Show | a0001c0001t0001a0001c0007t0001a0001c0007t0004others(9): Show | a0001c0001t0001g0084a0001c0001t0001g0201a0001c0001t0001g0208others(80): Show | 89 | 312 | 0.2853 | 8 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 6/38 | c.800+1752_800+1759dupGATAGATA | ||||||
|
chr17:69041879
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(306): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0007a0001c0008others(29): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(41): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0061others(292): Show | 309 | 312 | 0.9904 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 6/38 | c.800+1610T>C | ||||||
|
chr17:69042178
|
CTA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp2 others(108): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0007a0002c0002others(7): Show | a0001c0001t0001a0001c0007t0001a0001c0007t0004others(9): Show | a0001c0001t0001g0061a0001c0001t0001g0084a0001c0007t0001g0090others(104): Show | 111 | 312 | 0.3558 | -2 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 6/38 | c.800+1309_800+1310delTA | ||||||
|
chr17:69044941
|
T | TG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(275): Show |
a0001a0002a0004others(19): Show | a0001c0001a0001c0007a0001c0008others(28): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(36): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0061others(263): Show | 278 | 312 | 0.8910 | 1 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 4/38 | c.469+230_469+231insC | ||||||
|
chr17:69045014
|
C | G | intron_variant | MODIFIER | NA18990.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0091 | 1 | 312 | 0.0032 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 4/38 | c.469+158G>C | ||||||
|
chr17:69046599
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(275): Show |
a0001a0002a0004others(19): Show | a0001c0001a0001c0007a0001c0008others(28): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(36): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0061others(263): Show | 278 | 312 | 0.8910 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 3/38 | c.305-1263A>G | ||||||
|
chr17:69046621
|
T | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp2 others(109): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0007a0002c0002others(7): Show | a0001c0001t0001a0001c0007t0001a0001c0007t0004others(9): Show | a0001c0001t0001g0061a0001c0001t0001g0084a0001c0007t0001g0090others(105): Show | 112 | 312 | 0.3590 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 3/38 | c.305-1285A>C | ||||||
|
chr17:69046718
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(275): Show |
a0001a0002a0004others(19): Show | a0001c0001a0001c0007a0001c0008others(28): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(36): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0061others(263): Show | 278 | 312 | 0.8910 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 3/38 | c.305-1382G>A | ||||||
|
chr17:69046719
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(275): Show |
a0001a0002a0004others(19): Show | a0001c0001a0001c0007a0001c0008others(28): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(36): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0061others(263): Show | 278 | 312 | 0.8910 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 3/38 | c.305-1383T>C | ||||||
|
chr17:69046875
|
CTATATAT others(7): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp2 others(91): Show |
a0001a0002a0006others(3): Show | a0001c0001a0001c0007a0001c0021others(8): Show | a0001c0001t0001a0001c0007t0001a0001c0007t0004others(10): Show | a0001c0001t0001g0061a0001c0001t0001g0084a0001c0007t0001g0115others(88): Show | 94 | 312 | 0.3013 | -14 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 3/38 | c.305-1553_305-1540delTATATATATATATA | ||||||
|
chr17:69046937
|
TTA | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp2 others(109): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0007a0002c0002others(7): Show | a0001c0001t0001a0001c0007t0001a0001c0007t0004others(9): Show | a0001c0001t0001g0061a0001c0001t0001g0084a0001c0007t0001g0090others(105): Show | 112 | 312 | 0.3590 | -2 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 3/38 | c.305-1603_305-1602delTA | ||||||
|
chr17:69047209
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(275): Show |
a0001a0002a0004others(19): Show | a0001c0001a0001c0007a0001c0008others(28): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(36): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0061others(263): Show | 278 | 312 | 0.8910 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 3/38 | c.305-1873T>C | ||||||
|
chr17:69047357
|
G | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(275): Show |
a0001a0002a0004others(19): Show | a0001c0001a0001c0007a0001c0008others(28): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(36): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0061others(263): Show | 278 | 312 | 0.8910 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 3/38 | c.304+1926C>G | ||||||
|
chr17:69047495
|
G | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(275): Show |
a0001a0002a0004others(19): Show | a0001c0001a0001c0007a0001c0008others(28): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(36): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0061others(263): Show | 278 | 312 | 0.8910 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 3/38 | c.304+1788C>G | ||||||
|
chr17:69048420
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp2 others(109): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0007a0002c0002others(7): Show | a0001c0001t0001a0001c0007t0001a0001c0007t0004others(9): Show | a0001c0001t0001g0061a0001c0001t0001g0084a0001c0007t0001g0090others(105): Show | 112 | 312 | 0.3590 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 3/38 | c.304+863A>G | ||||||
|
chr17:69049762
|
T | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(275): Show |
a0001a0002a0004others(19): Show | a0001c0001a0001c0007a0001c0008others(28): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(36): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0061others(263): Show | 278 | 312 | 0.8910 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 2/38 | c.97-272A>C | ||||||
|
chr17:69050343
|
AAC | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp2 others(105): Show |
a0001a0002a0006others(5): Show | a0001c0001a0001c0007a0002c0002others(11): Show | a0001c0001t0001a0001c0007t0001a0001c0007t0004others(13): Show | a0001c0001t0001g0012a0001c0001t0001g0061a0001c0007t0001g0115others(100): Show | 108 | 312 | 0.3462 | -2 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 2/38 | c.96+686_96+687delGT | ||||||
|
chr17:69053780
|
CTG | C | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00544.hp1 others(84): Show |
a0001a0002a0006 | a0001c0001a0001c0007a0002c0002others(2): Show | a0001c0001t0001a0001c0007t0001a0001c0007t0004others(4): Show | a0001c0001t0001g0084a0001c0007t0001g0090a0001c0007t0001g0115others(80): Show | 87 | 312 | 0.2789 | -2 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 1/38 | c.-13-2643_-13-2642delCA | ||||||
|
chr17:69055196
|
A | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp2 others(109): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0007a0002c0002others(7): Show | a0001c0001t0001a0001c0007t0001a0001c0007t0004others(9): Show | a0001c0001t0001g0061a0001c0001t0001g0084a0001c0007t0001g0090others(105): Show | 112 | 312 | 0.3590 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 1/38 | c.-13-4057T>A | ||||||
|
chr17:69056077
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(276): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0007a0001c0008others(29): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(37): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0061others(264): Show | 279 | 312 | 0.8942 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 1/38 | c.-14+4789G>A | ||||||
|
chr17:69058007
|
G | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(292): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0007a0001c0008others(29): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(39): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0061others(278): Show | 295 | 312 | 0.9455 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 1/38 | c.-14+2859C>G | ||||||
|
chr17:69058568
|
C | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(242): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0007a0001c0008others(26): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(34): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0061others(235): Show | 245 | 312 | 0.7853 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 1/38 | c.-14+2298G>C | ||||||
|
chr17:69058794
|
C | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(292): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0007a0001c0008others(29): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(39): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0061others(278): Show | 295 | 312 | 0.9455 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 1/38 | c.-14+2072G>C | ||||||
|
chr17:69059404
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(276): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0007a0001c0008others(29): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(37): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0061others(264): Show | 279 | 312 | 0.8942 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 1/38 | c.-14+1462T>C | ||||||
|
chr17:69059760
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(276): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0007a0001c0008others(29): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(37): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0061others(264): Show | 279 | 312 | 0.8942 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 1/38 | c.-14+1106T>C | ||||||
|
chr17:69060142
|
T | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp2 others(109): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0007a0002c0002others(7): Show | a0001c0001t0001a0001c0007t0001a0001c0007t0004others(9): Show | a0001c0001t0001g0061a0001c0001t0001g0084a0001c0007t0001g0090others(105): Show | 112 | 312 | 0.3590 | 0 | ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 1/38 | c.-14+724A>C |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABCA9 | 0/1 | a0002 | 1624 | 108 | 10 | 21 | 57 | 6 | 13 | subcellular location copy fasta | chr17 | 68969488 | 69065927 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABCA9 | 0/1 | c0002 | 4875 | 86 | 10 | 21 | 40 | 4 | 10 | copy fasta | chr17 | 68969488 | 69065927 |