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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCA1_chr9_104776006_104933155 | 104862049 | TACAC | T | intron_variant | MODIFIER | HG01255.hp2 HG01884.hp2 HG02257.hp2 others(2): Show |
a0002 | a0002c0017a0002c0025a0002c0032others(1): Show | a0002c0017t0026a0002c0025t0015a0002c0032t0001others(1): Show | a0002c0017t0026g0163a0002c0017t0026g0276a0002c0025t0015g0283others(2): Show | 5 | 318 | 0.0157 | -4 | c.422 others(19): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104862073 | CACAT | C | intron_variant | MODIFIER | NA19001.hp2 NA19009.hp1 NA19088.hp1 |
a0002a0009a0013 | a0002c0011a0009c0018a0013c0013 | a0002c0011t0004a0009c0018t0038a0013c0013t0003 | a0002c0011t0004g0213a0009c0018t0038g0228a0013c0013t0003g0207 | 3 | 318 | 0.0094 | -4 | c.422 others(19): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104888058 | GGTGT | G | intron_variant | MODIFIER | HG00099.hp1 HG01106.hp2 HG01257.hp1 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0011a0003c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0176a0001c0001t0002g0074a0001c0001t0004g0193others(5): Show | 8 | 318 | 0.0252 | -4 | c.160 others(21): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 3/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104891966 | TAAAA | T | intron_variant | MODIFIER | HG02257.hp1 HG02451.hp1 HG02486.hp2 others(8): Show |
a0002a0003a0004others(3): Show | a0002c0024a0002c0031a0002c0037others(8): Show | a0002c0024t0008a0002c0031t0001a0002c0037t0001others(8): Show | a0002c0024t0008g0008a0002c0031t0001g0278a0002c0037t0001g0275others(8): Show | 11 | 318 | 0.0346 | -4 | c.67- others(19): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 2/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104898549 | AAAAT | A | intron_variant | MODIFIER | HG00621.hp2 HG00738.hp2 HG01081.hp2 others(37): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0005a0002c0017others(25): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0039others(32): Show | a0001c0001t0001g0121a0001c0001t0001g0218a0001c0001t0001g0291others(37): Show | 40 | 318 | 0.1258 | -4 | c.66+ others(19): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 2/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104909607 | TACAC | T | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00621.hp2 others(37): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0005a0001c0035others(23): Show | a0001c0001t0003a0001c0001t0006a0001c0001t0012others(29): Show | a0001c0001t0003g0211a0001c0001t0006g0047a0001c0001t0006g0058others(37): Show | 40 | 318 | 0.1258 | -4 | c.-92 others(21): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 1/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104932825 | CAAAA | C | upstream_gene_variant | MODIFIER | HG00673.hp1 HG01081.hp2 HG01168.hp2 others(42): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0005a0002c0011others(30): Show | a0001c0001t0039a0001c0005t0002a0002c0011t0004others(38): Show | a0001c0001t0039g0246a0001c0005t0002g0254a0002c0011t0004g0263others(42): Show | 45 | 318 | 0.1415 | -4 | c.-49 others(15): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 4671 | chr9 | TogoVar | ||||||
ABCA2_chr9_137002234_137033237 | 137004844 | TTCTC | T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(212): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0002a0001c0003others(34): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(37): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(135): Show | 215 | 320 | 0.6719 | -4 | c.*30 others(15): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 2389 | chr9 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2289961 | TCACA | T | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp2 HG00639.hp1 others(50): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0054a0001c0001t0001g0055a0001c0001t0001g0056others(49): Show | 53 | 252 | 0.2103 | -4 | c.251 others(21): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 19/32 | chr16 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2298617 | CCTCT | C | intron_variant | MODIFIER | HG01109.hp1 HG02257.hp1 HG02280.hp1 others(11): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(8): Show | a0001c0001t0001g0146a0001c0001t0002g0215a0001c0001t0008g0178others(11): Show | 14 | 252 | 0.0556 | -4 | c.174 others(19): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 14/32 | chr16 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2310427 | AAAAC | A | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp2 HG00735.hp1 others(35): Show |
a0001a0006a0012 | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0146a0001c0001t0001g0189a0001c0001t0002g0215others(35): Show | 38 | 252 | 0.1508 | -4 | c.111 others(23): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2315203 | TACAC | T | intron_variant | MODIFIER | HG00408.hp1 HG02135.hp2 HG02257.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0128a0001c0001t0001g0129a0001c0001t0001g0130others(8): Show | 11 | 252 | 0.0437 | -4 | c.111 others(23): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2316490 | CAAAA | C | intron_variant | MODIFIER | HG01884.hp2 HG02258.hp1 HG02809.hp1 others(4): Show |
a0001 | a0001c0003a0001c0005a0001c0025 | a0001c0003t0002a0001c0005t0006a0001c0025t0001 | a0001c0003t0002g0190a0001c0003t0002g0201a0001c0003t0002g0202others(4): Show | 7 | 252 | 0.0278 | -4 | c.111 others(21): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2343708 | CCTAT | C | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG01071.hp1 others(42): Show |
a0001a0003a0006others(2): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(13): Show | a0001c0001t0001g0059a0001c0001t0001g0076a0001c0001t0001g0091others(42): Show | 45 | 252 | 0.1786 | -4 | c.-36 others(15): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 2981 | chr16 | TogoVar | ||||||
ABCA4_chr1_93987834_94126148 | 93999527 | GCTTT | G | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00733.hp2 others(34): Show |
a0001a0002a0003others(12): Show | a0001c0007a0001c0081a0001c0108others(19): Show | a0001c0007t0001a0001c0081t0002a0001c0108t0001others(19): Show | a0001c0007t0001g0037a0001c0007t0001g0064a0001c0007t0001g0089others(34): Show | 37 | 306 | 0.1209 | -4 | c.647 others(23): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 47/49 | chr1 | TogoVar | ||||||
ABCA4_chr1_93987834_94126148 | 94018208 | TACAC | T | intron_variant | MODIFIER | NA18967.hp2 NA18974.hp2 NA18998.hp1 |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0037a0001c0007t0001g0150a0001c0007t0001g0156 | 3 | 306 | 0.0098 | -4 | c.519 others(23): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 36/49 | chr1 | TogoVar | ||||||
ABCA4_chr1_93987834_94126148 | 94020536 | GAATT | G | intron_variant | MODIFIER | HG01891.hp2 HG02717.hp1 HG02895.hp1 others(7): Show |
a0003a0006a0017others(1): Show | a0003c0033a0003c0072a0006c0012others(4): Show | a0003c0033t0001a0003c0072t0001a0006c0012t0001others(4): Show | a0003c0033t0001g0186a0003c0072t0001g0049a0006c0012t0001g0035others(7): Show | 10 | 306 | 0.0327 | -4 | c.501 others(21): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 35/49 | chr1 | TogoVar | ||||||
ABCA4_chr1_93987834_94126148 | 94044071 | TTCTC | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(271): Show |
a0001a0002a0003others(42): Show | a0001c0001a0001c0003a0001c0004others(91): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(93): Show | a0001c0001t0001g0003a0001c0001t0001g0019a0001c0001t0001g0027others(267): Show | 274 | 306 | 0.8954 | -4 | c.305 others(21): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 20/49 | chr1 | TogoVar | ||||||
ABCA4_chr1_93987834_94126148 | 94075330 | TAAAG | T | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG02027.hp1 others(3): Show |
a0002 | a0002c0002a0002c0010 | a0002c0002t0001a0002c0010t0001 | a0002c0002t0001g0010a0002c0002t0001g0020a0002c0002t0001g0059others(3): Show | 6 | 306 | 0.0196 | -4 | c.155 others(23): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 11/49 | chr1 | TogoVar | ||||||
ABCA4_chr1_93987834_94126148 | 94079249 | TCACA | T | intron_variant | MODIFIER | HG01884.hp2 HG02559.hp1 HG02896.hp1 others(1): Show |
a0001a0039a0040others(1): Show | a0001c0006a0039c0086a0040c0087others(1): Show | a0001c0006t0001a0039c0086t0001a0040c0087t0001others(1): Show | a0001c0006t0001g0154a0039c0086t0001g0135a0040c0087t0001g0192others(1): Show | 4 | 306 | 0.0131 | -4 | c.123 others(19): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 9/49 | chr1 | TogoVar | ||||||
ABCA4_chr1_93987834_94126148 | 94091579 | TCACA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(95): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0003a0001c0004others(32): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(33): Show | a0001c0001t0001g0003a0001c0001t0001g0027a0001c0001t0001g0053others(94): Show | 98 | 306 | 0.3203 | -4 | c.768 others(21): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 6/49 | chr1 | TogoVar | ||||||
ABCA4_chr1_93987834_94126148 | 94116968 | CTCTT | C | intron_variant | MODIFIER | HG01952.hp1 HG01952.hp2 HG02040.hp1 others(7): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0028others(4): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(5): Show | a0001c0001t0001g0110a0001c0001t0001g0117a0001c0001t0002g0112others(6): Show | 10 | 306 | 0.0327 | -4 | c.67- others(19): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 1/49 | chr1 | TogoVar | ||||||
ABCA4_chr1_93987834_94126148 | 94124145 | TTTTG | T | upstream_gene_variant | MODIFIER | HG00735.hp2 HG01978.hp1 HG02109.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0015others(1): Show | a0001c0001t0001a0002c0002t0001a0003c0015t0001others(1): Show | a0001c0001t0001g0232a0002c0002t0001g0210a0002c0002t0001g0211others(3): Show | 6 | 306 | 0.0196 | -4 | c.-31 others(15): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 2998 | chr1 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69267778 | TATTA | T | intron_variant | MODIFIER | HG02622.hp2 HG03130.hp1 HG03453.hp2 |
a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0336a0001c0004t0003g0337a0001c0004t0003g0338 | 3 | 350 | 0.0086 | -4 | c.314 others(21): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 23/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69281047 | AAAAT | A | intron_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG01257.hp2 others(13): Show |
a0001a0002 | a0001c0004a0001c0010a0002c0001 | a0001c0004t0005a0001c0004t0014a0001c0004t0027others(2): Show | a0001c0004t0005g0016a0001c0004t0005g0324a0001c0004t0005g0325others(13): Show | 16 | 350 | 0.0457 | -4 | c.239 others(23): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 18/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69284554 | TATTC | T | intron_variant | MODIFIER | HG02717.hp1 HG02976.hp2 NA18906.hp2 |
a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0010a0001c0002t0012g0011a0001c0002t0012g0012 | 3 | 350 | 0.0086 | -4 | c.227 others(21): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 17/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69288719 | GAAGA | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(272): Show |
a0001a0002a0003others(12): Show | a0001c0002a0001c0004a0001c0006others(21): Show | a0001c0002t0001a0001c0002t0012a0001c0002t0020others(43): Show | a0001c0002t0001g0002a0001c0002t0001g0045a0001c0002t0001g0046others(270): Show | 275 | 350 | 0.7857 | -4 | c.190 others(21): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 14/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69293833 | GGTGT | G | intron_variant | MODIFIER | HG02486.hp2 HG02622.hp2 HG02895.hp2 others(4): Show |
a0001a0003a0004 | a0001c0004a0003c0003a0004c0005 | a0001c0004t0003a0003c0003t0003a0004c0005t0016 | a0001c0004t0003g0336a0001c0004t0003g0337a0001c0004t0003g0338others(4): Show | 7 | 350 | 0.0200 | -4 | c.149 others(21): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 11/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69293869 | TGTGC | T | intron_variant | MODIFIER | HG00558.hp2 HG00738.hp1 HG00741.hp1 others(6): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0003 | a0001c0002t0001g0062a0001c0002t0001g0063a0001c0002t0001g0086others(6): Show | 9 | 350 | 0.0257 | -4 | c.149 others(21): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 11/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69298229 | TAGGA | T | intron_variant | MODIFIER | HG02809.hp1 HG02818.hp2 HG02922.hp2 |
a0001a0004 | a0001c0004a0004c0005 | a0001c0004t0026a0004c0005t0003a0004c0005t0029 | a0001c0004t0026g0165a0004c0005t0003g0195a0004c0005t0029g0207 | 3 | 350 | 0.0086 | -4 | c.126 others(21): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 9/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69298281 | AAGGG | A | intron_variant | MODIFIER | HG00558.hp1 HG00738.hp2 HG01358.hp1 others(10): Show |
a0001a0002 | a0001c0002a0001c0004a0002c0001 | a0001c0002t0001a0001c0004t0003a0001c0004t0005others(1): Show | a0001c0002t0001g0085a0001c0002t0001g0086a0001c0002t0001g0087others(10): Show | 13 | 350 | 0.0371 | -4 | c.126 others(21): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 9/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69303785 | AATAT | A | intron_variant | MODIFIER | HG01192.hp1 HG02040.hp2 HG02071.hp1 others(7): Show |
a0002a0012 | a0002c0001a0002c0016a0012c0020 | a0002c0001t0004a0002c0001t0008a0002c0001t0022others(2): Show | a0002c0001t0004g0170a0002c0001t0004g0173a0002c0001t0004g0186others(7): Show | 10 | 350 | 0.0286 | -4 | c.930 others(19): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69304419 | CAGAT | C | intron_variant | MODIFIER | HG02630.hp2 HG02965.hp1 NA19240.hp2 others(1): Show |
a0006 | a0006c0009 | a0006c0009t0003a0006c0009t0028 | a0006c0009t0003g0219a0006c0009t0003g0220a0006c0009t0003g0221others(1): Show | 4 | 350 | 0.0114 | -4 | c.930 others(19): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69315956 | GAAAC | G | intron_variant | MODIFIER | NA18967.hp2 NA18977.hp2 NA19078.hp1 |
a0001a0011 | a0001c0002a0011c0018 | a0001c0002t0001a0011c0018t0001 | a0001c0002t0001g0125a0001c0002t0001g0150a0011c0018t0001g0148 | 3 | 350 | 0.0086 | -4 | c.-15 others(21): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 1/38 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69082328 | AACAC | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(140): Show |
a0001a0002a0003others(9): Show | a0001c0001a0002c0002a0003c0003others(10): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(115): Show | 143 | 326 | 0.4387 | -4 | c.461 others(21): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 36/38 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69086486 | AATAT | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(132): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0003c0003others(7): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(107): Show | 135 | 326 | 0.4141 | -4 | c.393 others(21): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 30/38 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69117045 | TAAAG | T | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01106.hp1 others(6): Show |
a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0008a0006c0007t0001g0021a0006c0007t0001g0022others(2): Show | 9 | 326 | 0.0276 | -4 | c.149 others(21): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 11/38 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69143833 | GTAGA | G | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG00733.hp1 others(43): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0003c0003others(9): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(10): Show | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0037others(41): Show | 46 | 326 | 0.1411 | -4 | c.-21 others(15): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 1939 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69146088 | GAATA | G | upstream_gene_variant | MODIFIER | HG01243.hp1 HG02148.hp2 NA20752.hp2 |
a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0156a0005c0005t0002g0157a0005c0005t0002g0158 | 3 | 326 | 0.0092 | -4 | c.-43 others(15): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 4194 | chr17 | TogoVar | ||||||
ABCA7_chr19_1035107_1070572 | 1045974 | TCCAG | T | intron_variant | MODIFIER | HG01071.hp2 HG02071.hp1 HG03688.hp1 others(2): Show |
a0014a0015a0016others(2): Show | a0014c0019a0015c0018a0016c0014others(2): Show | a0014c0019t0002a0015c0018t0001a0016c0014t0002others(2): Show | a0014c0019t0002g0029a0015c0018t0001g0028a0016c0014t0002g0025others(2): Show | 5 | 30 | 0.1667 | -4 | c.144 others(21): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 12/46 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ABCA7_chr19_1035107_1070572 | 1048506 | AAAAC | A | intron_variant | MODIFIER | HG01071.hp1 HG02071.hp2 NA19066.hp1 others(2): Show |
a0001a0016 | a0001c0001a0016c0014 | a0001c0001t0003a0016c0014t0002 | a0001c0001t0003g0015a0001c0001t0003g0017a0001c0001t0003g0018others(2): Show | 5 | 30 | 0.1667 | -4 | c.227 others(21): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 16/46 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ABCA8_chr17_68862289_68960392 | 68893608 | ATTCC | A | intron_variant | MODIFIER | HG02896.hp1 HG03139.hp2 HG03209.hp2 others(1): Show |
a0001a0008 | a0001c0002a0008c0039 | a0001c0002t0001a0008c0039t0001 | a0001c0002t0001g0027a0001c0002t0001g0036a0001c0002t0001g0183others(1): Show | 4 | 274 | 0.0146 | -4 | c.303 others(21): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 23/39 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68900538 | CAAAA | C | intron_variant | MODIFIER | HG01074.hp1 HG01168.hp1 HG01517.hp2 others(8): Show |
a0001a0004a0008others(1): Show | a0001c0001a0001c0003a0004c0008others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0003others(3): Show | a0001c0001t0001g0007a0001c0001t0001g0025a0001c0001t0001g0029others(8): Show | 11 | 274 | 0.0402 | -4 | c.276 others(23): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 21/39 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68911734 | TACAC | T | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01106.hp1 others(11): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0002others(7): Show | a0001c0001t0001g0119a0001c0002t0001g0120a0001c0003t0002g0100others(10): Show | 14 | 274 | 0.0511 | -4 | c.213 others(23): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 17/39 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68922194 | CTTTT | C | intron_variant | MODIFIER | HG00423.hp2 HG02055.hp2 HG02647.hp2 others(5): Show |
a0001a0004a0005 | a0001c0001a0001c0005a0004c0029others(1): Show | a0001c0001t0001a0001c0005t0001a0004c0029t0001others(1): Show | a0001c0001t0001g0119a0001c0001t0001g0129a0001c0001t0001g0162others(5): Show | 8 | 274 | 0.0292 | -4 | c.150 others(19): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 12/39 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68944316 | TTATA | T | intron_variant | MODIFIER | HG01167.hp2 HG02135.hp1 |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0001a0003c0007t0001 | a0001c0001t0001g0253a0003c0007t0001g0189 | 2 | 274 | 0.0073 | -4 | c.-5- others(19): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 2/39 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68946050 | AAATT | A | intron_variant | MODIFIER | HG00544.hp1 HG01168.hp2 HG01496.hp1 others(38): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(11): Show | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0001g0079others(38): Show | 41 | 274 | 0.1496 | -4 | c.-6+ others(19): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 2/39 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68946945 | AAGAG | A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00438.hp1 others(115): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0002a0001c0003others(30): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(34): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0008others(115): Show | 118 | 274 | 0.4307 | -4 | c.-6+ others(19): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 2/39 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68947716 | ATTAT | A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00438.hp1 others(61): Show |
a0001a0002a0006others(8): Show | a0001c0001a0001c0002a0001c0004others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(15): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0008others(60): Show | 64 | 274 | 0.2336 | -4 | c.-6+ others(19): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 2/39 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68958473 | ATAAT | A | upstream_gene_variant | MODIFIER | HG00733.hp2 HG02622.hp2 HG02896.hp1 others(6): Show |
a0001a0004a0007others(2): Show | a0001c0001a0004c0008a0007c0010others(3): Show | a0001c0001t0001a0004c0008t0001a0007c0010t0001others(3): Show | a0001c0001t0001g0155a0004c0008t0001g0125a0004c0008t0001g0126others(6): Show | 9 | 274 | 0.0329 | -4 | c.-34 others(15): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 3082 | chr17 | TogoVar |