regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCA5_chr17_69239311_69332133 | 69263697 | C | CTT | intron_variant | MODIFIER | HG00280.hp2 HG00609.hp1 HG00642.hp1 others(42): Show |
a0003a0006 | a0003c0003a0006c0009 | a0003c0003t0003a0003c0003t0015a0003c0003t0021others(2): Show | a0003c0003t0003g0001a0003c0003t0003g0004a0003c0003t0003g0005others(41): Show | 45 | 350 | 0.1286 | 2 | c.331 others(21): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 24/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69293833 | G | GGT | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG01168.hp2 others(28): Show |
a0001a0003a0004others(1): Show | a0001c0002a0001c0004a0001c0006others(4): Show | a0001c0002t0001a0001c0004t0008a0001c0004t0014others(7): Show | a0001c0002t0001g0064a0001c0002t0001g0065a0001c0002t0001g0081others(28): Show | 31 | 350 | 0.0886 | 2 | c.149 others(19): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 11/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69298308 | G | GAA | intron_variant | MODIFIER | HG02717.hp1 HG02976.hp2 NA18906.hp2 |
a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0010a0001c0002t0012g0011a0001c0002t0012g0012 | 3 | 350 | 0.0086 | 2 | c.126 others(19): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 9/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69298314 | G | GGA | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01106.hp1 others(4): Show |
a0002a0005 | a0002c0001a0005c0007 | a0002c0001t0002a0005c0007t0006 | a0002c0001t0002g0225a0005c0007t0006g0339a0005c0007t0006g0340others(4): Show | 7 | 350 | 0.0200 | 2 | c.126 others(19): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 9/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69298316 | G | GGA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(109): Show |
a0001a0002a0005others(7): Show | a0001c0002a0002c0001a0005c0007others(7): Show | a0001c0002t0001a0002c0001t0002a0002c0001t0009others(14): Show | a0001c0002t0001g0069a0002c0001t0002g0013a0002c0001t0002g0014others(109): Show | 112 | 350 | 0.3200 | 2 | c.126 others(19): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 9/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69299471 | T | TAC | intron_variant | MODIFIER | HG01346.hp1 HG01884.hp2 HG02132.hp1 others(5): Show |
a0001a0002a0003 | a0001c0004a0002c0001a0003c0003 | a0001c0004t0003a0001c0004t0008a0002c0001t0004others(2): Show | a0001c0004t0003g0166a0001c0004t0003g0336a0001c0004t0003g0337others(5): Show | 8 | 350 | 0.0229 | 2 | c.126 others(21): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 9/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69303823 | T | TAC | intron_variant | MODIFIER | HG00280.hp2 HG00642.hp1 HG01070.hp1 others(15): Show |
a0003 | a0003c0003 | a0003c0003t0003a0003c0003t0015a0003c0003t0021 | a0003c0003t0003g0015a0003c0003t0003g0017a0003c0003t0003g0032others(15): Show | 18 | 350 | 0.0514 | 2 | c.930 others(17): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69303825 | T | TAC | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(100): Show |
a0001a0005a0011 | a0001c0002a0001c0006a0001c0008others(4): Show | a0001c0002t0001a0001c0002t0013a0001c0002t0020others(9): Show | a0001c0002t0001g0002a0001c0002t0001g0045a0001c0002t0001g0046others(99): Show | 103 | 350 | 0.2943 | 2 | c.930 others(17): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69303845 | C | CAT | intron_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG01243.hp2 others(14): Show |
a0001a0004a0005 | a0001c0004a0001c0022a0004c0005others(1): Show | a0001c0004t0003a0001c0004t0005a0001c0004t0008others(5): Show | a0001c0004t0003g0166a0001c0004t0005g0016a0001c0004t0005g0324others(14): Show | 17 | 350 | 0.0486 | 2 | c.930 others(17): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69303853 | T | TAC | intron_variant | MODIFIER | HG00280.hp2 HG00609.hp1 HG00642.hp1 others(43): Show |
a0003a0006a0014 | a0003c0003a0006c0009a0014c0021 | a0003c0003t0003a0003c0003t0015a0003c0003t0021others(3): Show | a0003c0003t0003g0001a0003c0003t0003g0004a0003c0003t0003g0005others(42): Show | 46 | 350 | 0.1314 | 2 | c.930 others(17): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69304982 | A | AAT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(333): Show |
a0001a0002a0003others(13): Show | a0001c0002a0001c0004a0001c0006others(22): Show | a0001c0002t0001a0001c0002t0012a0001c0002t0013others(50): Show | a0001c0002t0001g0002a0001c0002t0001g0045a0001c0002t0001g0046others(330): Show | 336 | 350 | 0.9600 | 2 | c.789 others(17): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 6/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69313423 | A | AAG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(329): Show |
a0001a0002a0003others(12): Show | a0001c0002a0001c0004a0001c0006others(21): Show | a0001c0002t0001a0001c0002t0012a0001c0002t0013others(47): Show | a0001c0002t0001g0002a0001c0002t0001g0045a0001c0002t0001g0046others(326): Show | 332 | 350 | 0.9486 | 2 | c.103 others(17): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 2/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69317399 | C | CAA | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG01433.hp2 others(10): Show |
a0001a0004 | a0001c0002a0001c0006a0004c0005 | a0001c0002t0001a0001c0002t0020a0001c0006t0001others(2): Show | a0001c0002t0001g0103a0001c0002t0001g0104a0001c0002t0001g0124others(10): Show | 13 | 350 | 0.0371 | 2 | c.-15 others(19): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 1/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69322363 | C | CAA | intron_variant | MODIFIER | HG01069.hp2 HG01099.hp2 HG01167.hp1 others(33): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0004a0001c0010others(5): Show | a0001c0002t0001a0001c0002t0012a0001c0004t0026others(8): Show | a0001c0002t0001g0047a0001c0002t0001g0048a0001c0002t0001g0161others(32): Show | 36 | 350 | 0.1029 | 2 | c.-16 others(19): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 1/38 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69078210 | G | GTT | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(109): Show |
a0001a0002a0007others(4): Show | a0001c0001a0002c0002a0007c0006others(4): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(92): Show | 112 | 326 | 0.3436 | 2 | c.*76 others(11): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 491 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69082328 | A | AAC | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG01243.hp2 others(9): Show |
a0002a0013 | a0002c0002a0013c0016 | a0002c0002t0002a0013c0016t0001 | a0002c0002t0002g0168a0002c0002t0002g0177a0002c0002t0002g0180others(9): Show | 12 | 326 | 0.0368 | 2 | c.461 others(19): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 36/38 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69086486 | A | AAT | intron_variant | MODIFIER | HG01516.hp1 HG01517.hp2 HG01891.hp2 others(10): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0009a0004c0004others(1): Show | a0001c0001t0001a0003c0009t0001a0004c0004t0002others(1): Show | a0001c0001t0001g0012a0001c0001t0001g0098a0003c0009t0001g0169others(7): Show | 13 | 326 | 0.0399 | 2 | c.393 others(19): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 30/38 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69098625 | C | CAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(122): Show |
a0001a0002a0006others(7): Show | a0001c0001a0002c0002a0006c0010others(7): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(104): Show | 125 | 326 | 0.3834 | 2 | c.301 others(19): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 22/38 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69106593 | G | GAA | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01106.hp1 others(21): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(5): Show | a0001c0001t0001a0002c0002t0002a0003c0003t0001others(5): Show | a0001c0001t0001g0054a0001c0001t0001g0079a0001c0001t0001g0080others(17): Show | 24 | 326 | 0.0736 | 2 | c.239 others(19): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 18/38 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69132873 | A | AGT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(189): Show |
a0001a0003a0004others(12): Show | a0001c0001a0003c0003a0003c0009others(15): Show | a0001c0001t0001a0003c0003t0001a0003c0009t0001others(17): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(159): Show | 192 | 326 | 0.5890 | 2 | c.791 others(17): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 6/38 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69142830 | A | ATG | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG01069.hp2 others(28): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(5): Show | a0001c0001t0001a0002c0002t0002a0003c0003t0001others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0073a0001c0001t0001g0102others(28): Show | 31 | 326 | 0.0951 | 2 | c.-11 others(13): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 936 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69142852 | G | GTA | upstream_gene_variant | MODIFIER | HG02145.hp1 HG02572.hp1 HG03195.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0013a0001c0001t0001g0036a0003c0003t0001g0272 | 3 | 326 | 0.0092 | 2 | c.-11 others(13): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 958 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69142854 | G | GTA | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00609.hp2 others(92): Show |
a0001a0003a0005others(3): Show | a0001c0001a0003c0003a0005c0005others(3): Show | a0001c0001t0001a0003c0003t0001a0005c0005t0002others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(76): Show | 95 | 326 | 0.2914 | 2 | c.-11 others(13): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 960 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69146164 | A | ACT | upstream_gene_variant | MODIFIER | HG00639.hp2 HG01109.hp1 HG01361.hp1 others(19): Show |
a0003a0016a0017others(1): Show | a0003c0003a0016c0020a0017c0022others(1): Show | a0003c0003t0001a0016c0020t0001a0017c0022t0001others(1): Show | a0003c0003t0001g0010a0003c0003t0001g0011a0003c0003t0001g0029others(17): Show | 22 | 326 | 0.0675 | 2 | c.-44 others(13): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 4270 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69146206 | G | GGA | upstream_gene_variant | MODIFIER | HG00609.hp1 HG00733.hp1 HG01070.hp1 others(47): Show |
a0001a0003a0004others(5): Show | a0001c0001a0003c0003a0004c0004others(5): Show | a0001c0001t0001a0003c0003t0001a0004c0004t0002others(5): Show | a0001c0001t0001g0111a0003c0003t0001g0011a0003c0003t0001g0270others(41): Show | 50 | 326 | 0.1534 | 2 | c.-45 others(13): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 4312 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69146207 | A | AAT | upstream_gene_variant | MODIFIER | HG02145.hp2 HG02717.hp1 HG02970.hp1 others(2): Show |
a0001a0006a0009 | a0001c0001a0006c0007a0006c0013others(1): Show | a0001c0001t0001a0006c0007t0001a0006c0013t0001others(1): Show | a0001c0001t0001g0089a0006c0007t0001g0008a0006c0013t0001g0165others(2): Show | 5 | 326 | 0.0153 | 2 | c.-45 others(13): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 4313 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69146222 | A | AAT | upstream_gene_variant | MODIFIER | HG01346.hp1 HG01891.hp1 HG02922.hp2 |
a0002a0005 | a0002c0002a0005c0005 | a0002c0002t0001a0002c0002t0002a0005c0005t0001 | a0002c0002t0001g0227a0002c0002t0002g0256a0005c0005t0001g0160 | 3 | 326 | 0.0092 | 2 | c.-45 others(13): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 4328 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69146368 | A | AAT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00544.hp2 others(74): Show |
a0001a0002a0005others(5): Show | a0001c0001a0002c0002a0002c0019others(6): Show | a0001c0001t0001a0002c0002t0002a0002c0002t0003others(8): Show | a0001c0001t0001g0094a0002c0002t0002g0009a0002c0002t0002g0024others(69): Show | 77 | 326 | 0.2362 | 2 | c.-46 others(13): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 4474 | chr17 | TogoVar | ||||||
ABCA7_chr19_1035107_1070572 | 1049472 | C | CCA | intron_variant | MODIFIER | HG00673.hp1 HG00673.hp2 HG01071.hp2 others(7): Show |
a0001a0002a0004others(5): Show | a0001c0001a0002c0011a0004c0004others(5): Show | a0001c0001t0003a0002c0011t0001a0004c0004t0001others(5): Show | a0001c0001t0003g0016a0001c0001t0003g0017a0002c0011t0001g0012others(7): Show | 10 | 30 | 0.3333 | 2 | c.255 others(17): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ABCA7_chr19_1035107_1070572 | 1049700 | C | CGG | intron_variant | MODIFIER | HG02451.hp1 HG02970.hp1 |
a0003a0007 | a0003c0005a0007c0021 | a0003c0005t0002a0007c0021t0001 | a0003c0005t0002g0003a0007c0021t0001g0001 | 2 | 30 | 0.0667 | 2 | c.255 others(19): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | TogoVar | ||||||
ABCA7_chr19_1035107_1070572 | 1049751 | C | CGG | intron_variant | MODIFIER | HG02451.hp1 HG02970.hp1 |
a0003a0007 | a0003c0005a0007c0021 | a0003c0005t0002a0007c0021t0001 | a0003c0005t0002g0003a0007c0021t0001g0001 | 2 | 30 | 0.0667 | 2 | c.255 others(19): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | TogoVar | ||||||
ABCA7_chr19_1035107_1070572 | 1049906 | C | CGG | intron_variant | MODIFIER | HG02451.hp2 HG03688.hp2 NA18983.hp1 others(1): Show |
a0005a0012a0016others(1): Show | a0005c0022a0012c0016a0016c0014others(1): Show | a0005c0022t0001a0012c0016t0001a0016c0014t0002others(1): Show | a0005c0022t0001g0004a0012c0016t0001g0024a0016c0014t0002g0025others(1): Show | 4 | 30 | 0.1333 | 2 | c.255 others(19): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | TogoVar | ||||||
ABCA7_chr19_1035107_1070572 | 1049957 | C | CAA | intron_variant | MODIFIER | NA20805.hp1 NA20805.hp2 NA20905.hp1 |
a0002 | a0002c0003a0002c0009 | a0002c0003t0001a0002c0009t0001 | a0002c0003t0001g0007a0002c0003t0001g0009a0002c0009t0001g0008 | 3 | 30 | 0.1000 | 2 | c.255 others(19): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ABCA7_chr19_1035107_1070572 | 1055499 | C | CTT | intron_variant | MODIFIER | HG02451.hp2 HG02723.hp1 HG02723.hp2 |
a0005a0010a0011 | a0005c0022a0010c0010a0011c0008 | a0005c0022t0001a0010c0010t0001a0011c0008t0002 | a0005c0022t0001g0004a0010c0010t0001g0013a0011c0008t0002g0014 | 3 | 30 | 0.1000 | 2 | c.420 others(19): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 30/46 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ABCA7_chr19_1035107_1070572 | 1066833 | C | CGG | downstream_gene_variant | MODIFIER | HG00673.hp1 HG00673.hp2 HG01071.hp1 others(18): Show |
a0001a0002a0003others(13): Show | a0001c0001a0002c0003a0003c0005others(13): Show | a0001c0001t0003a0002c0003t0001a0003c0005t0002others(13): Show | a0001c0001t0003g0015a0001c0001t0003g0016a0001c0001t0003g0017others(18): Show | 21 | 30 | 0.7000 | 2 | c.*14 others(13): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 1262 | chr19 | TogoVar | ||||||
ABCA7_chr19_1035107_1070572 | 1069816 | C | CTT | downstream_gene_variant | MODIFIER | HG00673.hp1 HG02071.hp2 HG02451.hp1 others(2): Show |
a0001a0004a0007others(2): Show | a0001c0001a0004c0004a0007c0021others(2): Show | a0001c0001t0003a0004c0004t0001a0007c0021t0001others(2): Show | a0001c0001t0003g0017a0004c0004t0001g0023a0007c0021t0001g0001others(2): Show | 5 | 30 | 0.1667 | 2 | c.*43 others(13): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 4245 | chr19 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68864148 | T | TAC | downstream_gene_variant | MODIFIER | HG00639.hp2 HG00733.hp2 HG01099.hp2 others(15): Show |
a0001a0004a0008others(2): Show | a0001c0002a0001c0011a0004c0008others(4): Show | a0001c0002t0001a0001c0011t0001a0004c0008t0001others(4): Show | a0001c0002t0001g0005a0001c0002t0001g0027a0001c0002t0001g0036others(15): Show | 18 | 274 | 0.0657 | 2 | c.*39 others(13): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 3140 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68864231 | A | AGT | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00438.hp1 others(140): Show |
a0001a0002a0003others(21): Show | a0001c0001a0001c0002a0001c0003others(36): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(38): Show | a0001c0001t0001g0011a0001c0001t0001g0014a0001c0001t0001g0016others(139): Show | 143 | 274 | 0.5219 | 2 | c.*38 others(13): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 3057 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68887881 | C | CAT | intron_variant | MODIFIER | HG00597.hp2 HG01258.hp2 HG03490.hp2 others(4): Show |
a0001a0021 | a0001c0001a0001c0005a0021c0036 | a0001c0001t0001a0001c0005t0001a0021c0036t0001 | a0001c0001t0001g0170a0001c0001t0001g0180a0001c0001t0001g0191others(4): Show | 7 | 274 | 0.0256 | 2 | c.314 others(19): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 24/39 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68887911 | T | TCC | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(57): Show |
a0001a0003a0007others(5): Show | a0001c0001a0001c0003a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0007a0001c0003t0001others(10): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0013others(57): Show | 60 | 274 | 0.2190 | 2 | c.314 others(19): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 24/39 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68888090 | T | TAC | intron_variant | MODIFIER | HG00438.hp1 HG01433.hp1 HG01433.hp2 others(9): Show |
a0001a0003a0008 | a0001c0001a0001c0002a0003c0033others(1): Show | a0001c0001t0001a0001c0002t0001a0003c0033t0001others(1): Show | a0001c0001t0001g0020a0001c0001t0001g0171a0001c0001t0001g0172others(9): Show | 12 | 274 | 0.0438 | 2 | c.314 others(19): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 24/39 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68911734 | T | TAC | intron_variant | MODIFIER | HG01258.hp1 HG02622.hp2 HG02896.hp1 others(5): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0004a0002c0006others(5): Show | a0001c0002t0001a0001c0004t0001a0002c0006t0001others(5): Show | a0001c0002t0001g0027a0001c0004t0001g0196a0002c0006t0001g0202others(5): Show | 8 | 274 | 0.0292 | 2 | c.213 others(21): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 17/39 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68914896 | T | TAC | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(175): Show |
a0001a0002a0003others(23): Show | a0001c0001a0001c0002a0001c0003others(46): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(51): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0008others(174): Show | 178 | 274 | 0.6496 | 2 | c.213 others(21): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 17/39 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68918930 | C | CAA | intron_variant | MODIFIER | HG00733.hp2 HG01884.hp2 HG02055.hp1 others(16): Show |
a0001a0004a0008others(4): Show | a0001c0001a0001c0002a0001c0005others(10): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(11): Show | a0001c0001t0001g0041a0001c0001t0001g0129a0001c0001t0001g0268others(16): Show | 19 | 274 | 0.0693 | 2 | c.178 others(19): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 14/39 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68931761 | C | CTT | intron_variant | MODIFIER | HG00280.hp1 HG01069.hp2 HG01099.hp2 others(26): Show |
a0001a0003a0007others(3): Show | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(8): Show | a0001c0001t0001g0016a0001c0001t0001g0021a0001c0001t0001g0041others(26): Show | 29 | 274 | 0.1058 | 2 | c.797 others(17): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 7/39 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68935262 | T | TTG | intron_variant | MODIFIER | HG00544.hp1 HG01168.hp2 HG01258.hp1 others(19): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0002a0001c0004others(11): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(11): Show | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0001g0079others(19): Show | 22 | 274 | 0.0803 | 2 | c.466 others(19): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 5/39 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68935540 | C | CTA | intron_variant | MODIFIER | HG00639.hp1 HG01074.hp2 HG02683.hp1 others(17): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(5): Show | a0001c0001t0001g0091a0001c0001t0001g0118a0001c0001t0001g0168others(17): Show | 20 | 274 | 0.0730 | 2 | c.466 others(19): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 5/39 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68944316 | T | TAA | intron_variant | MODIFIER | HG00438.hp1 HG02809.hp1 HG02970.hp1 others(2): Show |
a0001a0005a0007others(2): Show | a0001c0002a0005c0009a0007c0010others(2): Show | a0001c0002t0001a0005c0009t0001a0007c0010t0001others(2): Show | a0001c0002t0001g0040a0005c0009t0001g0109a0007c0010t0001g0123others(2): Show | 5 | 274 | 0.0183 | 2 | c.-5- others(17): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 2/39 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68944316 | T | TTA | intron_variant | MODIFIER | HG00408.hp2 HG01106.hp2 HG01516.hp1 others(13): Show |
a0001a0002a0025 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(3): Show | a0001c0001t0001g0209a0001c0001t0001g0211a0001c0001t0001g0213others(13): Show | 16 | 274 | 0.0584 | 2 | c.-5- others(17): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 2/39 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68956352 | T | TAC | upstream_gene_variant | MODIFIER | HG01346.hp1 HG01884.hp1 HG02145.hp2 others(18): Show |
a0001a0004a0005others(6): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(10): Show | a0001c0001t0001g0117a0001c0001t0001g0118a0001c0002t0001g0120others(18): Show | 21 | 274 | 0.0766 | 2 | c.-13 others(13): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 961 | chr17 | TogoVar |