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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCA4_chr1_93987834_94126148 | 94117474 | GC | G | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00558.hp1 others(49): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0003a0001c0004others(21): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(21): Show | a0001c0001t0001g0003a0001c0001t0001g0139a0001c0001t0001g0148others(48): Show | 52 | 306 | 0.1699 | -1 | c.66+ others(8): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 1/49 | chr1 | TogoVar | ||||||
ABCA4_chr1_93987834_94126148 | 94117481 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(84): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0003a0001c0004others(31): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(31): Show | a0001c0001t0001g0122a0001c0001t0001g0185a0001c0001t0001g0189others(83): Show | 87 | 306 | 0.2843 | -1 | c.66+ others(8): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 1/49 | chr1 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69245744 | GA | G | 3_prime_UTR_variant | MODIFIER | HG02615.hp1 HG02723.hp1 HG02896.hp1 others(1): Show |
a0001 | a0001c0010 | a0001c0010t0010 | a0001c0010t0010g0332a0001c0010t0010g0333a0001c0010t0010g0334others(1): Show | 4 | 350 | 0.0114 | -1 | c.*17 others(6): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 39/39 | 1792 | chr17 | TogoVar | |||||
ABCA5_chr17_69239311_69332133 | 69246410 | AG | A | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(112): Show |
a0001a0010a0011 | a0001c0002a0001c0006a0001c0008others(4): Show | a0001c0002t0001a0001c0002t0013a0001c0002t0020others(9): Show | a0001c0002t0001g0002a0001c0002t0001g0045a0001c0002t0001g0046others(111): Show | 115 | 350 | 0.3286 | -1 | c.*11 others(6): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 39/39 | 1126 | chr17 | TogoVar | |||||
ABCA5_chr17_69239311_69332133 | 69249616 | TA | T | intron_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG01257.hp2 others(5): Show |
a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0016a0001c0004t0005g0324a0001c0004t0005g0325others(5): Show | 8 | 350 | 0.0229 | -1 | c.476 others(9): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 37/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69252836 | CA | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(115): Show |
a0001a0003a0010others(1): Show | a0001c0002a0001c0006a0001c0008others(5): Show | a0001c0002t0001a0001c0002t0013a0001c0002t0020others(10): Show | a0001c0002t0001g0002a0001c0002t0001g0045a0001c0002t0001g0046others(114): Show | 118 | 350 | 0.3371 | -1 | c.441 others(9): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 34/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69253398 | CA | C | intron_variant | MODIFIER | HG01167.hp2 HG01257.hp1 NA20129.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0048a0001c0002t0001g0079a0001c0002t0001g0083 | 3 | 350 | 0.0086 | -1 | c.441 others(9): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 34/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69256456 | CT | C | intron_variant | MODIFIER | HG01069.hp1 HG01070.hp1 HG01516.hp1 others(6): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0002c0001others(1): Show | a0001c0002t0001a0001c0004t0017a0002c0001t0002others(1): Show | a0001c0002t0001g0060a0001c0002t0001g0115a0001c0002t0001g0136others(6): Show | 9 | 350 | 0.0257 | -1 | c.373 others(9): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 28/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69274839 | CT | C | intron_variant | MODIFIER | HG02148.hp2 HG02717.hp1 HG02976.hp2 others(3): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0012a0002c0001t0002a0002c0001t0009 | a0001c0002t0012g0010a0001c0002t0012g0011a0001c0002t0012g0012others(3): Show | 6 | 350 | 0.0171 | -1 | c.259 others(9): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 19/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69278595 | AT | A | intron_variant | MODIFIER | HG01358.hp2 HG01952.hp1 HG01975.hp1 others(5): Show |
a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0211a0002c0001t0002g0226a0002c0001t0002g0227others(5): Show | 8 | 350 | 0.0229 | -1 | c.239 others(9): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 18/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69282765 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(308): Show |
a0001a0002a0003others(12): Show | a0001c0002a0001c0004a0001c0006others(21): Show | a0001c0002t0001a0001c0002t0013a0001c0002t0020others(44): Show | a0001c0002t0001g0002a0001c0002t0001g0045a0001c0002t0001g0046others(305): Show | 311 | 350 | 0.8886 | -1 | c.239 others(10): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 18/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69282980 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(96): Show |
a0001a0002a0004others(5): Show | a0001c0002a0001c0004a0001c0010others(7): Show | a0001c0002t0001a0001c0004t0005a0001c0004t0027others(13): Show | a0001c0002t0001g0094a0001c0004t0005g0016a0001c0004t0005g0324others(96): Show | 99 | 350 | 0.2829 | -1 | c.239 others(9): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 18/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69285315 | CT | C | intron_variant | MODIFIER | HG00280.hp1 HG01346.hp2 HG06807.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0081a0001c0002t0001g0084a0001c0002t0001g0157 | 3 | 350 | 0.0086 | -1 | c.227 others(9): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 17/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69285320 | TA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(310): Show |
a0001a0002a0003others(11): Show | a0001c0002a0001c0004a0001c0006others(20): Show | a0001c0002t0001a0001c0002t0012a0001c0002t0013others(42): Show | a0001c0002t0001g0002a0001c0002t0001g0045a0001c0002t0001g0046others(307): Show | 313 | 350 | 0.8943 | -1 | c.227 others(9): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 17/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69285472 | AT | A | intron_variant | MODIFIER | NA18947.hp1 NA18989.hp2 NA19003.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0075a0001c0002t0001g0076a0001c0002t0001g0155 | 3 | 350 | 0.0086 | -1 | c.227 others(9): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 17/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69298691 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(129): Show |
a0002a0007a0008others(5): Show | a0002c0001a0002c0016a0007c0011others(6): Show | a0002c0001t0002a0002c0001t0004a0002c0001t0008others(16): Show | a0002c0001t0002g0013a0002c0001t0002g0014a0002c0001t0002g0211others(128): Show | 132 | 350 | 0.3771 | -1 | c.126 others(10): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 9/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69311207 | CA | C | intron_variant | MODIFIER | HG01346.hp1 HG01884.hp2 HG02717.hp1 others(2): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0012a0001c0004t0003a0001c0004t0008 | a0001c0002t0012g0010a0001c0002t0012g0011a0001c0002t0012g0012others(2): Show | 5 | 350 | 0.0143 | -1 | c.308 others(9): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 3/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69316490 | GA | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(102): Show |
a0001a0002a0003others(6): Show | a0001c0002a0002c0001a0003c0003others(6): Show | a0001c0002t0001a0002c0001t0002a0002c0001t0009others(13): Show | a0001c0002t0001g0215a0002c0001t0002g0013a0002c0001t0002g0014others(102): Show | 105 | 350 | 0.3000 | -1 | c.-15 others(9): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 1/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69316592 | TA | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(130): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0004a0001c0006others(11): Show | a0001c0002t0001a0001c0002t0013a0001c0002t0020others(22): Show | a0001c0002t0001g0002a0001c0002t0001g0045a0001c0002t0001g0046others(129): Show | 133 | 350 | 0.3800 | -1 | c.-15 others(9): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 1/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69317399 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(156): Show |
a0001a0002a0003others(9): Show | a0001c0002a0001c0004a0002c0001others(11): Show | a0001c0002t0012a0001c0004t0003a0001c0004t0005others(26): Show | a0001c0002t0012g0010a0001c0002t0012g0011a0001c0002t0012g0012others(154): Show | 159 | 350 | 0.4543 | -1 | c.-15 others(9): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 1/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69318114 | AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(220): Show |
a0001a0002a0007others(7): Show | a0001c0002a0001c0004a0001c0006others(14): Show | a0001c0002t0001a0001c0002t0012a0001c0002t0013others(27): Show | a0001c0002t0001g0002a0001c0002t0001g0045a0001c0002t0001g0046others(219): Show | 223 | 350 | 0.6371 | -1 | c.-15 others(9): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 1/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69321206 | TA | T | intron_variant | MODIFIER | HG02615.hp1 HG02723.hp1 HG02896.hp1 others(1): Show |
a0001 | a0001c0010 | a0001c0010t0010 | a0001c0010t0010g0332a0001c0010t0010g0333a0001c0010t0010g0334others(1): Show | 4 | 350 | 0.0114 | -1 | c.-16 others(9): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 1/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69322363 | CA | C | intron_variant | MODIFIER | HG01515.hp2 HG02273.hp2 HG03491.hp2 others(4): Show |
a0002 | a0002c0001 | a0002c0001t0002a0002c0001t0004a0002c0001t0009 | a0002c0001t0002g0216a0002c0001t0002g0240a0002c0001t0002g0241others(4): Show | 7 | 350 | 0.0200 | -1 | c.-16 others(9): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 1/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69325141 | CA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(200): Show |
a0001a0002a0003others(5): Show | a0001c0002a0001c0004a0001c0006others(13): Show | a0001c0002t0001a0001c0002t0012a0001c0002t0013others(26): Show | a0001c0002t0001g0002a0001c0002t0001g0045a0001c0002t0001g0046others(197): Show | 203 | 350 | 0.5800 | -1 | c.-16 others(9): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 1/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69328044 | AC | A | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02109.hp2 HG02280.hp2 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0004a0002c0001others(2): Show | a0001c0002t0001a0001c0004t0014a0001c0004t0027others(3): Show | a0001c0002t0001g0066a0001c0002t0001g0067a0001c0004t0014g0321others(6): Show | 9 | 350 | 0.0257 | -1 | c.-10 others(6): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 912 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69328316 | GA | G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG01261.hp1 others(1): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0002a0002c0001t0032 | a0001c0002t0001g0114a0002c0001t0002g0014a0002c0001t0002g0291others(1): Show | 4 | 350 | 0.0114 | -1 | c.-12 others(6): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 1184 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69074725 | TG | T | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01361.hp1 HG02630.hp1 others(1): Show |
a0003a0016 | a0003c0003a0016c0020 | a0003c0003t0001a0016c0020t0001 | a0003c0003t0001g0010a0003c0003t0001g0265a0003c0003t0001g0281others(1): Show | 4 | 326 | 0.0123 | -1 | c.*42 others(6): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 3976 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69075742 | TA | T | downstream_gene_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02451.hp2 others(3): Show |
a0003a0006 | a0003c0009a0006c0010 | a0003c0009t0001a0006c0010t0001 | a0003c0009t0001g0169a0003c0009t0001g0170a0003c0009t0001g0261others(3): Show | 6 | 326 | 0.0184 | -1 | c.*32 others(6): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 2959 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69084670 | CT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(117): Show |
a0001a0002a0006others(5): Show | a0001c0001a0002c0002a0006c0013others(5): Show | a0001c0001t0001a0002c0002t0001a0006c0013t0001others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(98): Show | 120 | 326 | 0.3681 | -1 | c.418 others(9): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 32/38 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69091957 | TA | T | intron_variant | MODIFIER | HG00639.hp2 HG01069.hp1 HG01071.hp2 others(30): Show |
a0003a0006a0016 | a0003c0003a0003c0009a0006c0007others(2): Show | a0003c0003t0001a0003c0009t0001a0006c0007t0001others(2): Show | a0003c0003t0001g0010a0003c0003t0001g0011a0003c0003t0001g0262others(22): Show | 33 | 326 | 0.1012 | -1 | c.340 others(9): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 25/38 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69097390 | CA | C | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG01070.hp1 others(43): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0003c0003others(8): Show | a0001c0001t0001a0002c0002t0002a0003c0003t0001others(9): Show | a0001c0001t0001g0039a0001c0001t0001g0096a0002c0002t0002g0177others(37): Show | 46 | 326 | 0.1411 | -1 | c.312 others(9): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 23/38 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69100631 | GA | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(237): Show |
a0001a0002a0003others(12): Show | a0001c0001a0002c0002a0002c0019others(15): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(18): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(206): Show | 240 | 326 | 0.7362 | -1 | c.301 others(9): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 22/38 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69101595 | CA | C | intron_variant | MODIFIER | HG01169.hp1 HG01169.hp2 HG01256.hp1 others(3): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0002c0002t0002a0004c0004t0002 | a0001c0001t0001g0014a0001c0001t0001g0070a0002c0002t0002g0179others(2): Show | 6 | 326 | 0.0184 | -1 | c.287 others(9): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 21/38 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69103911 | CT | C | intron_variant | MODIFIER | HG01167.hp2 HG02040.hp1 HG03704.hp1 others(3): Show |
a0004a0005 | a0004c0004a0005c0005 | a0004c0004t0002a0005c0005t0002 | a0004c0004t0002g0148a0005c0005t0002g0007a0005c0005t0002g0153others(1): Show | 6 | 326 | 0.0184 | -1 | c.274 others(9): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 20/38 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69104663 | AC | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(167): Show |
a0001a0002a0003others(15): Show | a0001c0001a0002c0002a0002c0019others(17): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(20): Show | a0001c0001t0001g0041a0001c0001t0001g0078a0001c0001t0001g0119others(146): Show | 170 | 326 | 0.5215 | -1 | c.274 others(9): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 20/38 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69104814 | CA | C | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01106.hp1 others(9): Show |
a0006 | a0006c0007a0006c0010 | a0006c0007t0001a0006c0010t0001 | a0006c0007t0001g0008a0006c0007t0001g0021a0006c0007t0001g0022others(5): Show | 12 | 326 | 0.0368 | -1 | c.274 others(9): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 20/38 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69105384 | CT | C | intron_variant | MODIFIER | HG02040.hp2 NA19054.hp2 NA19086.hp1 others(1): Show |
a0002a0011a0021 | a0002c0002a0011c0014a0021c0025 | a0002c0002t0002a0011c0014t0002a0021c0025t0002 | a0002c0002t0002g0251a0011c0014t0002g0250a0011c0014t0002g0253others(1): Show | 4 | 326 | 0.0123 | -1 | c.274 others(8): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 20/38 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69109973 | CT | C | intron_variant | MODIFIER | HG01074.hp1 HG01167.hp2 HG01169.hp2 others(7): Show |
a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0006a0004c0004t0002g0144a0004c0004t0002g0145others(5): Show | 10 | 326 | 0.0307 | -1 | c.227 others(9): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 17/38 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69111092 | CA | C | intron_variant | MODIFIER | HG01891.hp2 HG02451.hp2 HG03516.hp2 |
a0003 | a0003c0009 | a0003c0009t0001 | a0003c0009t0001g0169a0003c0009t0001g0170a0003c0009t0001g0261 | 3 | 326 | 0.0092 | -1 | c.213 others(9): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 16/38 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69112874 | GA | G | intron_variant | MODIFIER | HG00639.hp2 HG01099.hp2 HG01109.hp1 others(31): Show |
a0003a0016a0017others(1): Show | a0003c0003a0003c0009a0016c0020others(2): Show | a0003c0003t0001a0003c0009t0001a0016c0020t0001others(2): Show | a0003c0003t0001g0010a0003c0003t0001g0011a0003c0003t0001g0029others(25): Show | 34 | 326 | 0.1043 | -1 | c.204 others(9): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 15/38 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69117388 | TA | T | intron_variant | MODIFIER | NA18957.hp1 NA18969.hp2 NA18982.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0057 | 4 | 326 | 0.0123 | -1 | c.149 others(9): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 11/38 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69130316 | CA | C | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp2 HG01256.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002 | a0001c0001t0001g0013a0001c0001t0001g0047a0001c0001t0001g0048others(5): Show | 10 | 326 | 0.0307 | -1 | c.792 others(8): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 6/38 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69131573 | TA | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(185): Show |
a0001a0003a0004others(11): Show | a0001c0001a0003c0003a0003c0009others(14): Show | a0001c0001t0001a0003c0003t0001a0003c0009t0001others(16): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(155): Show | 188 | 326 | 0.5767 | -1 | c.792 others(9): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 6/38 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69146291 | AT | A | upstream_gene_variant | MODIFIER | HG02145.hp2 HG02970.hp1 HG02970.hp2 |
a0001a0006 | a0001c0001a0006c0013 | a0001c0001t0001a0006c0013t0001 | a0001c0001t0001g0089a0006c0013t0001g0165a0006c0013t0001g0249 | 3 | 326 | 0.0092 | -1 | c.-45 others(6): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 4397 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69146306 | AT | A | upstream_gene_variant | MODIFIER | HG00609.hp1 HG00733.hp1 HG01070.hp1 others(48): Show |
a0001a0003a0004others(6): Show | a0001c0001a0003c0003a0003c0009others(7): Show | a0001c0001t0001a0003c0003t0001a0003c0009t0001others(7): Show | a0001c0001t0001g0111a0003c0003t0001g0011a0003c0003t0001g0270others(42): Show | 51 | 326 | 0.1564 | -1 | c.-46 others(6): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 4412 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69146333 | TA | T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(116): Show |
a0001a0003a0004others(6): Show | a0001c0001a0003c0003a0004c0004others(6): Show | a0001c0001t0001a0003c0003t0001a0004c0004t0002others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(98): Show | 119 | 326 | 0.3650 | -1 | c.-46 others(6): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 4439 | chr17 | TogoVar | ||||||
ABCA7_chr19_1035107_1070572 | 1038291 | AG | A | upstream_gene_variant | MODIFIER | HG02723.hp2 NA20805.hp1 NA20905.hp1 |
a0002a0011 | a0002c0003a0002c0009a0011c0008 | a0002c0003t0001a0002c0009t0001a0011c0008t0002 | a0002c0003t0001g0007a0002c0009t0001g0008a0011c0008t0002g0014 | 3 | 30 | 0.1000 | -1 | c.-20 others(6): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 1815 | chr19 | TogoVar | ||||||
ABCA7_chr19_1035107_1070572 | 1039147 | TG | T | upstream_gene_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 | -1 | c.-11 others(6): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 959 | chr19 | TogoVar | ||||||
ABCA7_chr19_1035107_1070572 | 1040965 | TG | T | intron_variant | MODIFIER | HG02145.hp2 HG02451.hp1 HG02451.hp2 others(2): Show |
a0003a0005a0006others(1): Show | a0003c0005a0005c0022a0006c0020others(1): Show | a0003c0005t0002a0005c0022t0001a0006c0020t0002others(1): Show | a0003c0005t0002g0002a0003c0005t0002g0003a0005c0022t0001g0004others(2): Show | 5 | 30 | 0.1667 | -1 | c.-13 others(9): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ABCA7_chr19_1035107_1070572 | 1044238 | CT | C | intron_variant | MODIFIER | NA18983.hp2 NA20805.hp1 NA20805.hp2 others(2): Show |
a0002a0008a0013 | a0002c0003a0002c0009a0008c0006others(1): Show | a0002c0003t0001a0002c0009t0001a0008c0006t0002others(1): Show | a0002c0003t0001g0007a0002c0003t0001g0009a0002c0009t0001g0008others(2): Show | 5 | 30 | 0.1667 | -1 | c.104 others(9): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 10/46 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |