view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 | 69298316 | G | GGA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(109): Show |
a0001a0002a0005others(7): Show | a0001c0002a0002c0001a0005c0007others(7): Show | a0001c0002t0001a0002c0001t0002a0002c0001t0009others(14): Show | a0001c0002t0001g0068 a0002c0001t0002g0014 a0002c0001t0002g0015 others(109): Show |
112 | 179 | 0.6257 | 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 | a0001c0004t0003g0165 a0001c0004t0003g0335 a0001c0004t0003g0336 others(5): Show |
8 | 79 | 0.1013 | 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 | a0003c0003t0003g0002 a0003c0003t0003g0016 a0003c0003t0003g0019 others(14): Show |
18 | 308 | 0.0584 | 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 |
a0001a0005a0013 | a0001c0002a0001c0006a0001c0008others(4): Show | a0001c0002t0001a0001c0002t0013a0001c0002t0020others(9): Show | a0001c0002t0001g0003 a0001c0002t0001g0044 a0001c0002t0001g0045 others(99): Show |
103 | 222 | 0.4640 | 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 | a0001c0004t0003g0165 a0001c0004t0005g0017 a0001c0004t0005g0323 others(14): Show |
17 | 219 | 0.0776 | 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 |
a0003a0006a0016 | a0003c0003a0006c0009a0016c0021 | a0003c0003t0003a0003c0003t0015a0003c0003t0021others(3): Show | a0003c0003t0003g0001 a0003c0003t0003g0002 a0003c0003t0003g0005 others(41): Show |
46 | 346 | 0.1329 | 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(332): Show |
a0001a0002a0003others(13): Show | a0001c0002a0001c0004a0001c0006others(22): Show | a0001c0002t0001a0001c0002t0012a0001c0002t0013others(50): Show | a0001c0002t0001g0003 a0001c0002t0001g0044 a0001c0002t0001g0045 others(328): Show |
335 | 348 | 0.9626 | 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(328): Show |
a0001a0002a0003others(12): Show | a0001c0002a0001c0004a0001c0006others(21): Show | a0001c0002t0001a0001c0002t0012a0001c0002t0013others(47): Show | a0001c0002t0001g0003 a0001c0002t0001g0044 a0001c0002t0001g0045 others(324): Show |
331 | 348 | 0.9511 | 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 | a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0123 others(10): Show |
13 | 67 | 0.1940 | 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 | a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0160 others(32): Show |
36 | 169 | 0.2130 | 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(108): Show |
a0001a0002a0007others(4): Show | a0001c0001a0002c0002a0007c0006others(4): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(89): Show |
111 | 198 | 0.5606 | 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 | a0002c0002t0002g0166 a0002c0002t0002g0175 a0002c0002t0002g0178 others(9): Show |
12 | 105 | 0.1143 | 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 | a0001c0001t0001g0013 a0001c0001t0001g0098 a0003c0009t0001g0167 others(7): Show |
13 | 56 | 0.2321 | 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(121): Show |
a0001a0002a0006others(7): Show | a0001c0001a0002c0002a0006c0010others(7): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(101): Show |
124 | 205 | 0.6049 | 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 | a0001c0001t0001g0056 a0001c0001t0001g0079 a0001c0001t0001g0080 others(17): Show |
24 | 51 | 0.4706 | 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(188): Show |
a0001a0003a0004others(12): Show | a0001c0001a0003c0003a0003c0009others(15): Show | a0001c0001t0001a0003c0003t0001a0003c0009t0001others(17): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(156): Show |
191 | 324 | 0.5895 | 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 | a0001c0001t0001g0002 a0001c0001t0001g0074 a0001c0001t0001g0102 others(27): Show |
31 | 316 | 0.0981 | 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 | a0001c0001t0001g0014 a0001c0001t0001g0037 a0003c0003t0001g0269 |
3 | 321 | 0.0093 | 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(91): Show |
a0001a0003a0005others(3): Show | a0001c0001a0003c0003a0005c0005others(3): Show | a0001c0001t0001a0003c0003t0001a0005c0005t0002others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(74): Show |
94 | 233 | 0.4034 | 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 |
a0003a0014a0018others(1): Show | a0003c0003a0014c0021a0018c0022others(1): Show | a0003c0003t0001a0014c0021t0001a0018c0022t0001others(1): Show | a0003c0003t0001g0011 a0003c0003t0001g0012 a0003c0003t0001g0030 others(17): Show |
22 | 190 | 0.1158 | 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 | a0001c0001t0001g0111 a0003c0003t0001g0012 a0003c0003t0001g0267 others(41): Show |
50 | 324 | 0.1543 | 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 |
a0001a0006a0011 | a0001c0001a0006c0007a0006c0013others(1): Show | a0001c0001t0001a0006c0007t0001a0006c0013t0001others(1): Show | a0001c0001t0001g0089 a0006c0007t0001g0008 a0006c0013t0001g0163 others(2): Show |
5 | 266 | 0.0188 | 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 | a0002c0002t0001g0224 a0002c0002t0002g0253 a0005c0005t0001g0158 |
3 | 324 | 0.0093 | 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 | a0001c0001t0001g0094 a0002c0002t0002g0009 a0002c0002t0002g0010 others(68): Show |
77 | 274 | 0.2810 | 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(6): Show |
a0001a0003a0005others(4): Show | a0001c0001a0003c0004a0005c0017others(4): Show | a0001c0001t0003a0003c0004t0001a0005c0017t0001others(4): Show | a0001c0001t0003g0016 a0001c0001t0003g0017 a0003c0004t0001g0021 others(6): Show |
9 | 23 | 0.3913 | 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 |
a0004a0007 | a0004c0005a0007c0021 | a0004c0005t0002a0007c0021t0001 | a0004c0005t0002g0002 a0007c0021t0001g0001 |
2 | 25 | 0.0800 | 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 |
a0004a0007 | a0004c0005a0007c0021 | a0004c0005t0002a0007c0021t0001 | a0004c0005t0002g0002 a0007c0021t0001g0001 |
2 | 26 | 0.0769 | 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 |
a0008a0013a0015others(1): Show | a0008c0022a0013c0012a0015c0016others(1): Show | a0008c0022t0001a0013c0012t0001a0015c0016t0001others(1): Show | a0008c0022t0001g0004 a0013c0012t0001g0026 a0015c0016t0001g0024 others(1): Show |
4 | 21 | 0.1905 | 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 | a0002c0003t0001g0007 a0002c0003t0001g0009 a0002c0009t0001g0008 |
3 | 25 | 0.1200 | 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 |
a0008a0009a0010 | a0008c0022a0009c0010a0010c0008 | a0008c0022t0001a0009c0010t0001a0010c0008t0002 | a0008c0022t0001g0004 a0009c0010t0001g0013 a0010c0008t0002g0014 |
3 | 12 | 0.2500 | 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 | a0001c0001a0002c0003a0003c0004others(13): Show | a0001c0001t0003a0002c0003t0001a0003c0004t0001others(13): Show | a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017 others(18): Show |
21 | 28 | 0.7500 | 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 |
a0001a0003a0007others(2): Show | a0001c0001a0003c0004a0007c0021others(2): Show | a0001c0001t0003a0003c0004t0001a0007c0021t0001others(2): Show | a0001c0001t0003g0017 a0003c0004t0001g0023 a0007c0021t0001g0001 others(2): Show |
5 | 17 | 0.2941 | 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 |
a0001a0003a0007others(2): Show | a0001c0002a0001c0011a0003c0008others(4): Show | a0001c0002t0001a0001c0011t0001a0003c0008t0001others(4): Show | a0001c0002t0001g0006 a0001c0002t0001g0024 a0001c0002t0001g0029 others(15): Show |
18 | 271 | 0.0664 | 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 | a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0026 others(138): Show |
143 | 272 | 0.5257 | 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 |
a0001a0025 | a0001c0001a0001c0005a0025c0036 | a0001c0001t0001a0001c0005t0001a0025c0036t0001 | a0001c0001t0001g0168 a0001c0001t0001g0179 a0001c0001t0001g0191 others(4): Show |
7 | 252 | 0.0278 | 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 |
a0001a0004a0008others(5): Show | a0001c0001a0001c0003a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0007a0001c0003t0001others(10): Show | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0014 others(57): Show |
60 | 147 | 0.4082 | 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 |
a0001a0004a0007 | a0001c0001a0001c0002a0004c0033others(1): Show | a0001c0001t0001a0001c0002t0001a0004c0033t0001others(1): Show | a0001c0001t0001g0032 a0001c0001t0001g0170 a0001c0001t0001g0171 others(9): Show |
12 | 269 | 0.0446 | 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 |
a0001a0002a0004others(4): Show | a0001c0002a0001c0004a0002c0006others(5): Show | a0001c0002t0001a0001c0004t0001a0002c0006t0001others(5): Show | a0001c0002t0001g0024 a0001c0004t0001g0195 a0002c0006t0001g0202 others(5): Show |
8 | 99 | 0.0808 | 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(174): Show |
a0001a0002a0003others(23): Show | a0001c0001a0001c0002a0001c0003others(46): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(51): Show | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0010 others(172): Show |
177 | 272 | 0.6507 | 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 |
a0001a0003a0007others(4): Show | a0001c0001a0001c0002a0001c0005others(10): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(11): Show | a0001c0001t0001g0026 a0001c0001t0001g0128 a0001c0001t0001g0267 others(16): Show |
19 | 181 | 0.1050 | 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(25): Show |
a0001a0004a0009others(3): Show | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(8): Show | a0001c0001t0001g0017 a0001c0001t0001g0026 a0001c0001t0001g0080 others(25): Show |
28 | 53 | 0.5283 | 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 | a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 others(19): Show |
22 | 47 | 0.4681 | 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 |
a0001a0002a0007others(1): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(5): Show | a0001c0001t0001g0092 a0001c0001t0001g0117 a0001c0001t0001g0167 others(17): Show |
20 | 110 | 0.1818 | 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 |
a0001a0005a0008others(2): Show | a0001c0002a0005c0009a0008c0031others(2): Show | a0001c0002t0001a0005c0009t0001a0008c0031t0001others(2): Show | a0001c0002t0001g0015 a0005c0009t0001g0105 a0008c0031t0001g0096 others(2): Show |
5 | 154 | 0.0325 | 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 |
a0001a0002a0013 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(3): Show | a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 others(13): Show |
16 | 165 | 0.0970 | 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 |
a0001a0003a0005others(6): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(10): Show | a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0002t0001g0119 others(17): Show |
21 | 71 | 0.2958 | 2 | c.-13 others(13): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 961 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68958575 | A | AAT | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(132): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0002a0001c0004others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(24): Show | a0001c0001t0001g0025 a0001c0001t0001g0156 a0001c0001t0001g0159 others(132): Show |
135 | 260 | 0.5192 | 2 | c.-35 others(13): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 3184 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68958590 | A | AAT | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00438.hp1 others(38): Show |
a0001a0002a0006others(4): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(8): Show | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0012 others(38): Show |
41 | 239 | 0.1715 | 2 | c.-35 others(13): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 3199 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68958691 | T | TAA | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01106.hp1 others(27): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(15): Show | a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 others(25): Show |
30 | 267 | 0.1124 | 2 | c.-36 others(13): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 3300 | chr17 | TogoVar | |||||||
ABCA9_chr17_68969488_69065927 | 68971484 | A | AGT | downstream_gene_variant | MODIFIER | HG02074.hp2 HG03490.hp2 NA18967.hp2 others(3): Show |
a0002 | a0002c0002a0002c0004a0002c0028 | a0002c0002t0002a0002c0004t0002a0002c0028t0002 | a0002c0002t0002g0016 a0002c0002t0002g0065 a0002c0002t0002g0093 others(3): Show |
6 | 30 | 0.2000 | 2 | c.*44 others(13): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 3003 | chr17 | TogoVar |