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 | 69273447 | C | CTATTTAT others(5): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(113): Show |
a0001a0003a0005others(2): Show | a0001c0002a0001c0004a0001c0006others(7): Show | a0001c0002t0001a0001c0002t0012a0001c0002t0013others(12): Show | a0001c0002t0001g0002a0001c0002t0001g0045a0001c0002t0001g0046others(112): Show | 116 | 350 | 0.3314 | 12 | c.276 others(29): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 20/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69288719 | G | GAAGAAAG others(5): Show |
intron_variant | MODIFIER | HG02647.hp2 HG03471.hp1 NA20129.hp1 |
a0005 | a0005c0007 | a0005c0007t0006 | a0005c0007t0006g0340a0005c0007t0006g0341a0005c0007t0006g0342 | 3 | 350 | 0.0086 | 12 | c.190 others(29): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 14/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69293164 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02976.hp2 NA18906.hp2 |
a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0010a0001c0002t0012g0011a0001c0002t0012g0012 | 3 | 350 | 0.0086 | 12 | c.149 others(31): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 11/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69293833 | G | GGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 NA18975.hp2 |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0001a0003c0003t0003g0025 | 3 | 350 | 0.0086 | 12 | c.149 others(29): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 11/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69298221 | A | AAGGTAGG others(5): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00738.hp1 HG01255.hp1 others(26): Show |
a0001 | a0001c0002a0001c0008 | a0001c0002t0001a0001c0002t0013a0001c0008t0001 | a0001c0002t0001g0061a0001c0002t0001g0065a0001c0002t0001g0066others(26): Show | 29 | 350 | 0.0829 | 12 | c.126 others(29): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 9/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69298229 | T | TAGGAAGG others(5): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01123.hp1 HG01884.hp1 others(31): Show |
a0002a0008 | a0002c0001a0002c0016a0008c0012 | a0002c0001t0002a0002c0001t0004a0002c0001t0011others(4): Show | a0002c0001t0002g0216a0002c0001t0002g0223a0002c0001t0002g0225others(30): Show | 34 | 350 | 0.0971 | 12 | c.126 others(29): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 9/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69298233 | A | AAGGTAGG others(5): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0006 | a0006c0009 | a0006c0009t0028 | a0006c0009t0028g0222 | 1 | 350 | 0.0029 | 12 | c.126 others(29): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 9/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69298316 | G | GAGGAAGG others(5): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00609.hp2 HG00639.hp1 others(61): Show |
a0001a0002a0004 | a0001c0002a0001c0006a0001c0008others(5): Show | a0001c0002t0001a0001c0002t0020a0001c0006t0001others(9): Show | a0001c0002t0001g0002a0001c0002t0001g0045a0001c0002t0001g0058others(59): Show | 64 | 350 | 0.1829 | 12 | c.126 others(29): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 9/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69299471 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00558.hp2 others(75): Show |
a0001a0010a0011 | a0001c0002a0001c0006a0001c0008others(5): Show | a0001c0002t0001a0001c0002t0013a0001c0006t0001others(8): Show | a0001c0002t0001g0002a0001c0002t0001g0048a0001c0002t0001g0058others(74): Show | 78 | 350 | 0.2229 | 12 | c.126 others(31): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 9/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69303759 | T | TAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG01346.hp2 HG03239.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0156a0001c0002t0001g0157 | 2 | 350 | 0.0057 | 12 | c.931 others(27): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69086486 | A | AATATATA others(5): Show |
intron_variant | MODIFIER | HG03041.hp2 HG03139.hp1 HG03654.hp1 others(2): Show |
a0002a0007 | a0002c0002a0007c0006 | a0002c0002t0002a0007c0006t0002 | a0002c0002t0002g0191a0002c0002t0002g0241a0002c0002t0002g0248others(2): Show | 5 | 326 | 0.0153 | 12 | c.393 others(29): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 30/38 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69103911 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG01069.hp1 others(27): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(4): Show | a0001c0001t0001g0045a0001c0001t0001g0054a0001c0001t0001g0061others(23): Show | 30 | 326 | 0.0920 | 12 | c.274 others(29): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 20/38 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69134888 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(83): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0002c0019others(8): Show | a0001c0001t0001a0002c0002t0002a0002c0019t0002others(9): Show | a0001c0001t0001g0044a0001c0001t0001g0045a0001c0001t0001g0114others(76): Show | 86 | 326 | 0.2638 | 12 | c.461 others(27): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 4/38 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69141897 | A | AGCCTGGT others(5): Show |
upstream_gene_variant | MODIFIER | NA18962.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0231 | 1 | 326 | 0.0031 | 12 | c.-19 others(21): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 3 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69143833 | G | GTAGATAG others(5): Show |
upstream_gene_variant | MODIFIER | HG01099.hp2 HG01167.hp1 HG01258.hp1 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0002a0002c0002t0003others(2): Show | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0062others(8): Show | 11 | 326 | 0.0337 | 12 | c.-21 others(23): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 1939 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69146307 | T | TATGGAAT others(5): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0160 | 1 | 326 | 0.0031 | 12 | c.-46 others(23): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 4413 | chr17 | TogoVar | ||||||
ABCA7_chr19_1035107_1070572 | 1050782 | A | AAATAATA others(5): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0007 | 1 | 30 | 0.0333 | 12 | c.255 others(29): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ABCA7_chr19_1035107_1070572 | 1059248 | A | ATTATTTA others(5): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02451.hp2 HG02970.hp1 others(3): Show |
a0002a0003a0005others(2): Show | a0002c0003a0003c0005a0005c0022others(2): Show | a0002c0003t0001a0003c0005t0002a0005c0022t0001others(2): Show | a0002c0003t0001g0007a0003c0005t0002g0002a0003c0005t0002g0003others(3): Show | 6 | 30 | 0.2000 | 12 | c.546 others(29): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 40/46 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ABCA8_chr17_68862289_68960392 | 68887911 | T | TATATATA others(5): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02809.hp2 HG03017.hp2 others(2): Show |
a0001a0005 | a0001c0002a0001c0004a0001c0011others(1): Show | a0001c0002t0001a0001c0004t0001a0001c0011t0001others(1): Show | a0001c0002t0001g0127a0001c0002t0001g0177a0001c0004t0001g0048others(2): Show | 5 | 274 | 0.0183 | 12 | c.314 others(29): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 24/39 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68887913 | T | TATATATA others(5): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0005 | 1 | 274 | 0.0037 | 12 | c.314 others(29): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 24/39 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68887925 | T | TTATATAT others(5): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(188): Show |
a0001a0002a0003others(22): Show | a0001c0001a0001c0002a0001c0003others(39): Show | a0001c0001t0001a0001c0001t0007a0001c0002t0001others(42): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0008others(187): Show | 191 | 274 | 0.6971 | 12 | c.314 others(29): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 24/39 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68887934 | G | GATATATA others(5): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 274 | 0.0037 | 12 | c.314 others(29): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 24/39 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68922194 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG01978.hp1 NA19004.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042a0001c0001t0001g0197 | 2 | 274 | 0.0073 | 12 | c.150 others(27): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 12/39 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68935540 | C | CTATATAT others(5): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00733.hp2 HG01099.hp1 others(21): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(11): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0008others(21): Show | 24 | 274 | 0.0876 | 12 | c.466 others(29): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 5/39 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68944359 | T | TATATATA others(5): Show |
intron_variant | MODIFIER | HG03130.hp2 NA20129.hp2 |
a0001a0024 | a0001c0005a0024c0021 | a0001c0005t0001a0024c0021t0001 | a0001c0005t0001g0138a0024c0021t0001g0139 | 2 | 274 | 0.0073 | 12 | c.-5- others(27): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 2/39 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68944359 | T | TATATATA others(5): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02965.hp1 HG02970.hp2 others(5): Show |
a0001a0003a0004others(3): Show | a0001c0001a0003c0007a0004c0008others(3): Show | a0001c0001t0001a0003c0007t0001a0004c0008t0001others(3): Show | a0001c0001t0001g0021a0001c0001t0001g0023a0003c0007t0001g0266others(5): Show | 8 | 274 | 0.0292 | 12 | c.-5- others(27): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 2/39 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68944359 | T | TATATATA others(5): Show |
intron_variant | MODIFIER | NA18980.hp2 NA19080.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0250a0001c0001t0001g0251 | 2 | 274 | 0.0073 | 12 | c.-5- others(27): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 2/39 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68956352 | T | TACACACA others(5): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG00639.hp1 HG01074.hp2 others(9): Show |
a0001a0003a0024 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(5): Show | a0001c0001t0001g0129a0001c0001t0001g0211a0001c0002t0001g0243others(9): Show | 12 | 274 | 0.0438 | 12 | c.-13 others(23): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 961 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68958437 | T | TATATTAT others(5): Show |
upstream_gene_variant | MODIFIER | HG02258.hp1 HG03195.hp1 |
a0001a0030 | a0001c0004a0030c0030 | a0001c0004t0001a0030c0030t0001 | a0001c0004t0001g0124a0030c0030t0001g0103 | 2 | 274 | 0.0073 | 12 | c.-33 others(23): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 3046 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68958602 | T | TATAAAAT others(5): Show |
upstream_gene_variant | MODIFIER | HG02055.hp1 HG02717.hp2 HG02922.hp1 others(7): Show |
a0001a0002a0004others(1): Show | a0001c0002a0001c0004a0001c0005others(4): Show | a0001c0002t0001a0001c0004t0001a0001c0005t0001others(5): Show | a0001c0002t0001g0127a0001c0004t0001g0128a0001c0005t0001g0137others(7): Show | 10 | 274 | 0.0365 | 12 | c.-35 others(23): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 3211 | chr17 | TogoVar | ||||||
ABCA9_chr17_68969488_69065927 | 68989256 | T | TCTCTCAC others(5): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01175.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0134a0002c0002t0002g0149 | 2 | 312 | 0.0064 | 12 | c.395 others(29): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 30/38 | chr17 | TogoVar | ||||||
ABCA9_chr17_68969488_69065927 | 69021678 | G | GTCCTTCC others(5): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0041 | 1 | 312 | 0.0032 | 12 | c.240 others(27): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 18/38 | chr17 | TogoVar | ||||||
ABCA9_chr17_68969488_69065927 | 69041729 | T | TCTATTAT others(5): Show |
intron_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0199 | 1 | 312 | 0.0032 | 12 | c.800 others(29): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 6/38 | chr17 | TogoVar | ||||||
ABCA9_chr17_68969488_69065927 | 69041729 | T | TTATCTAT others(5): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(164): Show |
a0001a0002a0004others(14): Show | a0001c0001a0001c0007a0001c0008others(22): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(28): Show | a0001c0001t0001g0007a0001c0001t0001g0061a0001c0001t0001g0162others(158): Show | 167 | 312 | 0.5353 | 12 | c.800 others(29): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 6/38 | chr17 | TogoVar | ||||||
ABCB10_chr1_229511582_229563707 | 229529295 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG03041.hp1 NA20129.hp1 |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0021a0002c0003t0003g0023 | 2 | 284 | 0.0070 | 12 | c.164 others(29): Show |
ABCB10 | ENSG00000135776.5 | transcript | ENST00000344517.5 | protein_coding | 8/12 | chr1 | TogoVar | ||||||
ABCB10_chr1_229511582_229563707 | 229535038 | T | TAAAAAAA others(5): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0080 | 1 | 284 | 0.0035 | 12 | c.134 others(31): Show |
ABCB10 | ENSG00000135776.5 | transcript | ENST00000344517.5 | protein_coding | 6/12 | chr1 | TogoVar | ||||||
ABCB10_chr1_229511582_229563707 | 229550525 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0022 | 1 | 284 | 0.0035 | 12 | c.518 others(29): Show |
ABCB10 | ENSG00000135776.5 | transcript | ENST00000344517.5 | protein_coding | 1/12 | chr1 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 169003319 | G | GGTGTGTG others(5): Show |
intron_variant | MODIFIER | NA18939.hp2 NA18953.hp2 NA19010.hp2 |
a0001a0011 | a0001c0007a0001c0015a0011c0034 | a0001c0007t0001a0001c0015t0002a0011c0034t0001 | a0001c0007t0001g0291a0001c0015t0002g0290a0011c0034t0001g0287 | 3 | 306 | 0.0098 | 12 | c.390 others(29): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 5/27 | chr2 | TogoVar | ||||||
ABCB1_chr7_87498017_87605884 | 87530838 | C | CAAGAAAG others(5): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00738.hp1 HG01169.hp2 others(11): Show |
a0001a0002a0005 | a0001c0001a0001c0005a0001c0025others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(5): Show | a0001c0001t0001g0008a0001c0001t0001g0185a0001c0001t0001g0192others(10): Show | 14 | 352 | 0.0398 | 12 | c.268 others(29): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 21/27 | chr7 | TogoVar | ||||||
ABCB1_chr7_87498017_87605884 | 87530838 | C | CAAGAAAG others(5): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01257.hp2 HG02015.hp1 others(10): Show |
a0002a0008 | a0002c0002a0002c0010a0008c0014 | a0002c0002t0001a0002c0002t0002a0002c0002t0013others(2): Show | a0002c0002t0001g0136a0002c0002t0001g0137a0002c0002t0001g0143others(10): Show | 13 | 352 | 0.0369 | 12 | c.268 others(29): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 21/27 | chr7 | TogoVar | ||||||
ABCB1_chr7_87498017_87605884 | 87589805 | G | GGAGAGAG others(5): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01192.hp1 HG02572.hp2 others(12): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0002c0010others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0002g0338a0001c0001t0002g0339a0001c0001t0003g0020others(12): Show | 15 | 352 | 0.0426 | 12 | c.118 others(29): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 3/27 | chr7 | TogoVar | ||||||
ABCB4_chr7_87396696_87480680 | 87426944 | A | AGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG01175.hp1 HG02896.hp1 HG03139.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0224a0001c0002t0001g0109a0001c0002t0001g0116 | 3 | 290 | 0.0103 | 12 | c.189 others(27): Show |
ABCB4 | ENSG00000005471.19 | transcript | ENST00000649586.2 | protein_coding | 15/27 | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20629145 | C | CGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00609.hp1 HG00621.hp2 others(25): Show |
a0001a0004a0006others(12): Show | a0001c0001a0001c0005a0004c0004others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(20): Show | a0001c0001t0001g0283a0001c0001t0001g0345a0001c0001t0002g0296others(25): Show | 28 | 360 | 0.0778 | 12 | c.259 others(27): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20634238 | T | TTGTGTGT others(5): Show |
intron_variant | MODIFIER | HG03225.hp2 NA19030.hp2 |
a0051a0071 | a0051c0045a0071c0044 | a0051c0045t0004a0071c0044t0001 | a0051c0045t0004g0062a0071c0044t0001g0130 | 2 | 360 | 0.0056 | 12 | c.314 others(29): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 5/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20665724 | A | AAGATAGA others(5): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02451.hp1 others(11): Show |
a0001a0002a0007others(9): Show | a0001c0001a0002c0003a0002c0012others(10): Show | a0001c0001t0001a0002c0003t0003a0002c0003t0011others(11): Show | a0001c0001t0001g0346a0002c0003t0003g0023a0002c0003t0011g0013others(11): Show | 14 | 360 | 0.0389 | 12 | c.170 others(31): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20681058 | C | CTCTCTCT others(5): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0007 | a0007c0011 | a0007c0011t0004 | a0007c0011t0004g0124 | 1 | 360 | 0.0028 | 12 | c.170 others(29): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20691582 | T | TTTTATTT others(5): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(228): Show |
a0001a0002a0003others(45): Show | a0001c0001a0001c0005a0001c0064others(72): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(101): Show | a0001c0001t0001g0054a0001c0001t0001g0138a0001c0001t0001g0141others(228): Show | 231 | 360 | 0.6417 | 12 | c.201 others(31): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 16/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20691582 | T | TTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0008 | a0008c0009 | a0008c0009t0001 | a0008c0009t0001g0199 | 1 | 360 | 0.0028 | 12 | c.201 others(31): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 16/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20704075 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02647.hp1 HG02735.hp1 others(7): Show |
a0002a0004a0005others(5): Show | a0002c0003a0002c0041a0004c0008others(6): Show | a0002c0003t0011a0002c0041t0001a0004c0008t0002others(6): Show | a0002c0003t0011g0013a0002c0041t0001g0119a0004c0008t0002g0273others(7): Show | 10 | 360 | 0.0278 | 12 | c.233 others(29): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 19/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20711778 | C | CTCTTTCT others(5): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00735.hp2 HG01993.hp2 others(5): Show |
a0001a0004a0005others(4): Show | a0001c0001a0004c0008a0005c0006others(4): Show | a0001c0001t0001a0004c0008t0001a0005c0006t0001others(4): Show | a0001c0001t0001g0183a0001c0001t0001g0329a0004c0008t0001g0148others(5): Show | 8 | 360 | 0.0222 | 12 | c.242 others(31): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |