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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCA1_chr9_104776006_104933155 | 104887722 | C | CTTT | intron_variant | MODIFIER | HG00741.hp1 HG01099.hp1 HG01106.hp1 others(14): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0005a0002c0011others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0001g0083 a0001c0001t0003g0267 a0001c0001t0004g0021 others(14): Show |
17 | 193 | 0.0881 | 3 | c.160 others(20): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 3/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104893421 | C | CAAA | intron_variant | MODIFIER | HG00741.hp2 HG01099.hp2 HG01243.hp2 others(6): Show |
a0001a0002a0006others(3): Show | a0001c0005a0002c0017a0006c0004others(3): Show | a0001c0005t0002a0002c0017t0015a0006c0004t0006others(3): Show | a0001c0005t0002g0167 a0002c0017t0015g0104 a0006c0004t0006g0161 others(6): Show |
9 | 121 | 0.0744 | 3 | c.67- others(18): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 2/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104896711 | C | CTTT | intron_variant | MODIFIER | HG00741.hp1 HG01934.hp1 HG02056.hp2 others(14): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0002c0081others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(12): Show | a0001c0001t0001g0083 a0001c0001t0001g0093 a0001c0001t0003g0267 others(14): Show |
17 | 62 | 0.2742 | 3 | c.66+ others(18): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 2/49 | chr9 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2316490 | C | CAAA | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp2 HG01516.hp1 others(15): Show |
a0001 | a0001c0001a0001c0004a0001c0020 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0056 a0001c0001t0001g0062 a0001c0001t0001g0079 others(15): Show |
18 | 33 | 0.5455 | 3 | c.111 others(20): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2338751 | C | CTTT | intron_variant | MODIFIER | HG02280.hp1 HG02717.hp1 HG03041.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0004a0001c0003t0004a0001c0006t0004 | a0001c0001t0004g0006 a0001c0001t0004g0008 a0001c0003t0004g0003 others(3): Show |
6 | 194 | 0.0309 | 3 | c.-53 others(22): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 93998905 | A | ATTT | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00733.hp2 others(32): Show |
a0001a0002a0003others(12): Show | a0001c0007a0001c0081a0001c0108others(19): Show | a0001c0007t0001a0001c0081t0002a0001c0108t0001others(19): Show | a0001c0007t0001g0036 a0001c0007t0001g0041 a0001c0007t0001g0066 others(32): Show |
35 | 249 | 0.1406 | 3 | c.648 others(20): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 47/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94016811 | G | GGCT | intron_variant | MODIFIER | NA19063.hp2 NA19079.hp1 NA19084.hp2 |
a0004a0007 | a0004c0044a0007c0043a0007c0045 | a0004c0044t0002a0007c0043t0001a0007c0045t0001 | a0004c0044t0002g0205 a0007c0043t0001g0207 a0007c0045t0001g0206 |
3 | 304 | 0.0099 | 3 | c.519 others(20): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 36/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94028925 | A | AAAC | intron_variant | MODIFIER | HG00280.hp1 HG00733.hp2 HG00735.hp1 others(10): Show |
a0001a0015a0024others(1): Show | a0001c0001a0001c0003a0001c0081others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0081t0002others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0030 a0001c0001t0001g0056 others(9): Show |
13 | 302 | 0.0430 | 3 | c.453 others(20): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 30/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94028930 | A | AAAC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(67): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0003a0001c0004others(31): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(31): Show | a0001c0001t0001g0021 a0001c0001t0001g0100 a0001c0001t0001g0102 others(66): Show |
70 | 235 | 0.2979 | 3 | c.453 others(20): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 30/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94046455 | C | CAAA | intron_variant | MODIFIER | HG01074.hp2 HG01106.hp1 HG01943.hp1 others(6): Show |
a0001a0002a0004others(3): Show | a0001c0055a0002c0002a0002c0028others(4): Show | a0001c0055t0005a0002c0002t0001a0002c0028t0001others(4): Show | a0001c0055t0005g0301 a0002c0002t0001g0002 a0002c0002t0001g0098 others(5): Show |
9 | 152 | 0.0592 | 3 | c.291 others(20): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 19/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94116971 | T | TTTC | intron_variant | MODIFIER | NA18954.hp1 NA18999.hp2 NA19055.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0003t0001g0061 |
3 | 304 | 0.0099 | 3 | c.67- others(18): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 1/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94117007 | T | TTTC | intron_variant | MODIFIER | HG00099.hp2 HG01433.hp1 HG01515.hp1 others(10): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0001c0006others(8): Show | a0001c0001t0001a0001c0005t0001a0001c0006t0001others(8): Show | a0001c0001t0001g0144 a0001c0001t0001g0153 a0001c0001t0001g0157 others(10): Show |
13 | 290 | 0.0448 | 3 | c.67- others(18): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 1/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94122525 | T | TTGA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(157): Show |
a0001a0002a0003others(26): Show | a0001c0001a0001c0003a0001c0004others(50): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(52): Show | a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0021 others(154): Show |
160 | 276 | 0.5797 | 3 | c.-14 others(14): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 1378 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94124149 | G | GTTT | upstream_gene_variant | MODIFIER | HG00423.hp1 HG01952.hp2 HG02135.hp1 others(13): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0052others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(7): Show | a0001c0001t0001g0030 a0001c0001t0001g0085 a0001c0001t0002g0063 others(13): Show |
16 | 225 | 0.0711 | 3 | c.-31 others(14): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 3002 | chr1 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69303759 | T | TAAA | intron_variant | MODIFIER | HG00280.hp2 HG01070.hp1 HG01074.hp1 others(27): Show |
a0001a0002a0003others(2): Show | a0001c0002a0002c0001a0003c0003others(2): Show | a0001c0002t0001a0002c0001t0002a0002c0001t0009others(5): Show | a0001c0002t0001g0066 a0001c0002t0001g0072 a0001c0002t0001g0073 others(27): Show |
30 | 184 | 0.1630 | 3 | c.931 others(18): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69306022 | T | TATA | intron_variant | MODIFIER | HG02717.hp1 HG02976.hp2 NA18906.hp2 |
a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0011 a0001c0002t0012g0012 a0001c0002t0012g0013 |
3 | 348 | 0.0086 | 3 | c.788 others(18): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 6/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69308131 | A | ACTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(319): Show |
a0001a0002a0003others(12): Show | a0001c0002a0001c0004a0001c0006others(20): Show | a0001c0002t0001a0001c0002t0012a0001c0002t0013others(43): Show | a0001c0002t0001g0003 a0001c0002t0001g0044 a0001c0002t0001g0045 others(315): Show |
322 | 348 | 0.9253 | 3 | c.558 others(18): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 5/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69322363 | C | CAAA | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(116): Show |
a0001a0003a0005others(2): Show | a0001c0002a0001c0004a0001c0006others(8): Show | a0001c0002t0001a0001c0002t0013a0001c0004t0003others(16): Show | a0001c0002t0001g0003 a0001c0002t0001g0054 a0001c0002t0001g0056 others(115): Show |
119 | 252 | 0.4722 | 3 | c.-16 others(20): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 1/38 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69078210 | G | GTTT | downstream_gene_variant | MODIFIER | HG01070.hp2 HG03704.hp2 NA18967.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0053 others(5): Show |
8 | 95 | 0.0842 | 3 | c.*76 others(12): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 491 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69085519 | C | CAAA | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01106.hp1 others(8): Show |
a0006 | a0006c0007a0006c0013 | a0006c0007t0001a0006c0013t0001 | a0006c0007t0001g0008 a0006c0007t0001g0023 a0006c0007t0001g0024 others(4): Show |
11 | 182 | 0.0604 | 3 | c.402 others(20): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 31/38 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69098625 | C | CAAA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(87): Show |
a0001a0002a0007others(5): Show | a0001c0001a0002c0002a0002c0019others(6): Show | a0001c0001t0001a0002c0002t0002a0002c0002t0003others(7): Show | a0001c0001t0001g0014 a0001c0001t0001g0039 a0001c0001t0001g0050 others(78): Show |
90 | 171 | 0.5263 | 3 | c.301 others(20): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 22/38 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69143827 | C | CAGT | upstream_gene_variant | MODIFIER | HG02451.hp1 HG03098.hp2 HG03225.hp2 others(2): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0012 a0003c0003t0001g0267 a0003c0003t0001g0268 others(1): Show |
5 | 323 | 0.0155 | 3 | c.-21 others(14): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 1933 | chr17 | TogoVar | |||||||
ABCA7_chr19_1035107_1070572 | 1049467 | G | GGCC | intron_variant | MODIFIER | NA19066.hp1 NA19079.hp2 |
a0017a0018 | a0017c0014a0018c0007 | a0017c0014t0002a0018c0007t0002 | a0017c0014t0002g0025 a0018c0007t0002g0005 |
2 | 27 | 0.0741 | 3 | c.255 others(18): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | TogoVar | |||||||
ABCA7_chr19_1035107_1070572 | 1050782 | A | AAAT | intron_variant | MODIFIER | HG00673.hp2 HG02145.hp1 NA18970.hp1 others(1): Show |
a0001a0003a0014 | a0001c0001a0001c0002a0003c0004others(1): Show | a0001c0001t0003a0001c0002t0002a0003c0004t0001others(1): Show | a0001c0001t0003g0016 a0001c0002t0002g0011 a0003c0004t0001g0021 others(1): Show |
4 | 7 | 0.5714 | 3 | c.255 others(20): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ABCA7_chr19_1035107_1070572 | 1060208 | T | TATA | intron_variant | MODIFIER | HG00673.hp1 HG02145.hp1 HG02723.hp1 others(3): Show |
a0002a0003a0009others(2): Show | a0002c0009a0003c0004a0009c0010others(2): Show | a0002c0009t0001a0003c0004t0001a0009c0010t0001others(2): Show | a0002c0009t0001g0008 a0003c0004t0001g0021 a0003c0004t0001g0023 others(3): Show |
6 | 22 | 0.2727 | 3 | c.546 others(22): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 40/46 | chr19 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68887925 | T | TGGA | intron_variant | MODIFIER | HG02572.hp1 HG03516.hp1 NA18522.hp1 |
a0003a0007a0017 | a0003c0008a0007c0040a0017c0055 | a0003c0008t0001a0007c0040t0001a0017c0055t0001 | a0003c0008t0001g0124 a0007c0040t0001g0120 a0017c0055t0001g0130 |
3 | 28 | 0.1071 | 3 | c.314 others(20): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 24/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68901273 | T | TAGA | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(108): Show |
a0001a0003a0004others(9): Show | a0001c0001a0001c0003a0001c0005others(13): Show | a0001c0001t0001a0001c0001t0007a0001c0003t0001others(15): Show | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0014 others(108): Show |
111 | 272 | 0.4081 | 3 | c.276 others(22): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 21/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68923189 | A | ATAT | intron_variant | MODIFIER | HG00323.hp1 HG01258.hp1 HG01516.hp1 others(1): Show |
a0001 | a0001c0001a0001c0004a0001c0044 | a0001c0001t0001a0001c0004t0001a0001c0044t0001 | a0001c0001t0001g0092 a0001c0001t0001g0231 a0001c0004t0001g0195 others(1): Show |
4 | 272 | 0.0147 | 3 | c.144 others(20): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 11/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68931761 | C | CTTT | intron_variant | MODIFIER | HG02486.hp2 HG02559.hp1 HG02572.hp1 others(5): Show |
a0001a0009a0017others(1): Show | a0001c0001a0001c0005a0009c0010others(2): Show | a0001c0001t0001a0001c0005t0001a0009c0010t0001others(2): Show | a0001c0001t0001g0025 a0001c0001t0001g0037 a0001c0001t0001g0167 others(5): Show |
8 | 33 | 0.2424 | 3 | c.797 others(18): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 7/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68951707 | G | GATA | intron_variant | MODIFIER | HG00733.hp2 HG01069.hp1 HG01071.hp2 others(39): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0004others(18): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(19): Show | a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 others(38): Show |
42 | 272 | 0.1544 | 3 | c.-16 others(22): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 1/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68951712 | T | TAAC | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00438.hp1 others(110): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0002a0001c0003others(30): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(33): Show | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0010 others(109): Show |
113 | 272 | 0.4154 | 3 | c.-16 others(22): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 1/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68958680 | A | ATAT | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(149): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0002a0001c0004others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(30): Show | a0001c0001t0001g0025 a0001c0001t0001g0128 a0001c0001t0001g0154 others(149): Show |
152 | 272 | 0.5588 | 3 | c.-36 others(14): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 3289 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68958926 | T | TTAA | upstream_gene_variant | MODIFIER | HG00423.hp1 HG01346.hp1 HG01496.hp1 others(23): Show |
a0001a0003a0005others(7): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(15): Show | a0001c0001t0001g0233 a0001c0002t0001g0119 a0001c0003t0001g0102 others(22): Show |
26 | 264 | 0.0985 | 3 | c.-38 others(14): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 3535 | chr17 | TogoVar | |||||||
ABCA9_chr17_68969488_69065927 | 68999123 | T | TATC | intron_variant | MODIFIER | HG01109.hp2 HG01346.hp1 HG02145.hp1 others(15): Show |
a0004a0011 | a0004c0005a0011c0014 | a0004c0005t0003a0011c0014t0003 | a0004c0005t0003g0001 a0004c0005t0003g0263 a0004c0005t0003g0264 others(11): Show |
18 | 310 | 0.0581 | 3 | c.343 others(22): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 25/38 | chr17 | TogoVar | |||||||
ABCA9_chr17_68969488_69065927 | 69000933 | T | TTGG | intron_variant | MODIFIER | HG00639.hp2 HG00733.hp1 HG01069.hp1 others(56): Show |
a0001a0003a0004others(9): Show | a0001c0001a0001c0021a0003c0003others(11): Show | a0001c0001t0006a0001c0021t0003a0003c0003t0003others(13): Show | a0001c0001t0006g0008 a0001c0001t0006g0054 a0001c0021t0003g0020 others(48): Show |
59 | 310 | 0.1903 | 3 | c.343 others(22): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 25/38 | chr17 | TogoVar | |||||||
ABCA9_chr17_68969488_69065927 | 69014323 | A | AAAT | intron_variant | MODIFIER | HG02451.hp1 HG03516.hp1 HG03516.hp2 |
a0013a0018a0019 | a0013c0022a0018c0019a0019c0023 | a0013c0022t0003a0018c0019t0003a0019c0023t0003 | a0013c0022t0003g0019 a0018c0019t0003g0056 a0019c0023t0003g0018 |
3 | 310 | 0.0097 | 3 | c.303 others(22): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 22/38 | chr17 | TogoVar | |||||||
ABCA9_chr17_68969488_69065927 | 69033303 | C | CAAA | intron_variant | MODIFIER | HG01074.hp1 HG02055.hp1 HG02145.hp1 others(5): Show |
a0001a0005a0011 | a0001c0001a0001c0008a0005c0006others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0008t0001others(2): Show | a0001c0001t0001g0062 a0001c0001t0001g0208 a0001c0001t0006g0008 others(4): Show |
8 | 40 | 0.2000 | 3 | c.127 others(20): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCB10_chr1_229511582_229563707 | 229522848 | A | ATTC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00438.hp1 others(83): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0012others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(9): Show | a0001c0001t0001g0137 a0001c0002t0001g0037 a0001c0002t0001g0038 others(79): Show |
86 | 282 | 0.3050 | 3 | c.190 others(22): Show |
ABCB10 | ENSG00000135776.5 | transcript | ENST00000344517.5 | protein_coding | 10/12 | chr1 | TogoVar | |||||||
ABCB10_chr1_229511582_229563707 | 229525344 | T | TTTG | intron_variant | MODIFIER | HG01243.hp1 HG01516.hp2 HG02040.hp1 others(16): Show |
a0001a0002a0007 | a0001c0002a0002c0003a0002c0010others(1): Show | a0001c0002t0003a0002c0003t0003a0002c0003t0007others(2): Show | a0001c0002t0003g0118 a0002c0003t0003g0016 a0002c0003t0003g0017 others(16): Show |
19 | 281 | 0.0676 | 3 | c.190 others(20): Show |
ABCB10 | ENSG00000135776.5 | transcript | ENST00000344517.5 | protein_coding | 10/12 | chr1 | TogoVar | |||||||
ABCB10_chr1_229511582_229563707 | 229529295 | C | CAAA | intron_variant | MODIFIER | HG00673.hp2 HG00733.hp1 HG01099.hp1 others(13): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(1): Show | a0001c0001t0001g0126 a0001c0001t0001g0131 a0001c0001t0001g0140 others(13): Show |
16 | 58 | 0.2759 | 3 | c.164 others(20): Show |
ABCB10 | ENSG00000135776.5 | transcript | ENST00000344517.5 | protein_coding | 8/12 | chr1 | TogoVar | |||||||
ABCB10_chr1_229511582_229563707 | 229534871 | C | CAAA | intron_variant | MODIFIER | HG01358.hp1 HG01952.hp2 HG01978.hp2 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0055 a0001c0002t0002g0061 a0001c0002t0002g0068 others(6): Show |
9 | 45 | 0.2000 | 3 | c.134 others(22): Show |
ABCB10 | ENSG00000135776.5 | transcript | ENST00000344517.5 | protein_coding | 6/12 | chr1 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168944991 | T | TTTG | intron_variant | MODIFIER | HG01074.hp1 HG02055.hp2 HG02486.hp2 others(7): Show |
a0001a0002a0003 | a0001c0016a0001c0039a0002c0020others(4): Show | a0001c0016t0008a0001c0016t0033a0001c0039t0008others(7): Show | a0001c0016t0008g0295 a0001c0016t0033g0293 a0001c0039t0008g0298 others(7): Show |
10 | 304 | 0.0329 | 3 | c.234 others(18): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 19/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168968130 | A | ATTT | intron_variant | MODIFIER | HG00323.hp2 HG00621.hp2 HG00733.hp2 others(21): Show |
a0001a0002a0003others(4): Show | a0001c0006a0002c0008a0002c0010others(14): Show | a0001c0006t0002a0002c0008t0001a0002c0008t0032others(20): Show | a0001c0006t0002g0216 a0002c0008t0001g0284 a0002c0008t0032g0282 others(21): Show |
24 | 250 | 0.0960 | 3 | c.207 others(20): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 17/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168968790 | C | CAAA | intron_variant | MODIFIER | HG00323.hp2 HG00733.hp2 HG02055.hp2 others(9): Show |
a0003a0004a0011others(1): Show | a0003c0018a0003c0043a0004c0009others(4): Show | a0003c0018t0011a0003c0018t0036a0003c0043t0006others(8): Show | a0003c0018t0011g0085 a0003c0018t0036g0224 a0003c0043t0006g0082 others(9): Show |
12 | 114 | 0.1053 | 3 | c.201 others(20): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 16/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975892 | A | ATAT | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00438.hp1 others(182): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0005others(33): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0013others(59): Show | a0001c0001t0001g0032 a0001c0001t0001g0060 a0001c0001t0001g0061 others(180): Show |
185 | 304 | 0.6086 | 3 | c.130 others(20): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168995975 | T | TAAA | intron_variant | MODIFIER | HG01175.hp1 HG01255.hp1 HG01515.hp1 others(14): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0001c0038others(7): Show | a0001c0001t0014a0001c0002t0002a0001c0002t0009others(11): Show | a0001c0001t0014g0164 a0001c0002t0002g0150 a0001c0002t0002g0151 others(14): Show |
17 | 136 | 0.1250 | 3 | c.478 others(18): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 6/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 169029724 | C | CTTT | intron_variant | MODIFIER | HG00438.hp2 HG00621.hp2 HG01074.hp1 others(11): Show |
a0001a0002a0004others(2): Show | a0001c0005a0001c0006a0001c0007others(6): Show | a0001c0005t0001a0001c0005t0010a0001c0005t0030others(9): Show | a0001c0005t0001g0209 a0001c0005t0010g0208 a0001c0005t0030g0211 others(11): Show |
14 | 142 | 0.0986 | 3 | c.-28 others(20): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
ABCB1_chr7_87498017_87605884 | 87502503 | A | AATT | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02622.hp1 HG02723.hp2 others(7): Show |
a0001a0002a0013others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0008a0001c0001t0009a0001c0001t0015others(5): Show | a0001c0001t0008g0055 a0001c0001t0008g0097 a0001c0001t0008g0098 others(7): Show |
10 | 350 | 0.0286 | 3 | c.*17 others(14): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 513 | chr7 | TogoVar | |||||||
ABCB1_chr7_87498017_87605884 | 87534917 | T | TAAA | intron_variant | MODIFIER | HG01123.hp1 HG01346.hp2 HG01928.hp2 others(6): Show |
a0001a0003a0015 | a0001c0001a0001c0005a0003c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0283 a0001c0001t0001g0287 a0001c0001t0001g0291 others(6): Show |
9 | 155 | 0.0581 | 3 | c.248 others(22): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 20/27 | chr7 | TogoVar | |||||||
ABCB1_chr7_87498017_87605884 | 87568242 | C | CAAT | intron_variant | MODIFIER | HG00423.hp2 HG01123.hp2 HG01175.hp1 others(58): Show |
a0001a0002a0014others(1): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(14): Show | a0001c0001t0001g0008 a0001c0001t0001g0051 a0001c0001t0001g0056 others(56): Show |
61 | 224 | 0.2723 | 3 | c.339 others(20): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 5/27 | chr7 | TogoVar |