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 | 93998905 | A | AT | intron_variant | MODIFIER | HG00544.hp2 HG01175.hp1 HG01516.hp2 others(49): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0003a0001c0004others(30): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(31): Show | a0001c0001t0001g0181a0001c0003t0001g0184a0001c0004t0001g0036others(49): Show | 52 | 306 | 0.1699 | 1 | c.648 others(9): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 47/49 | chr1 | TogoVar | ||||||
ABCA4_chr1_93987834_94126148 | 94015448 | G | GA | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00639.hp1 others(60): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0003a0001c0005others(36): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(36): Show | a0001c0001t0001g0003a0001c0001t0001g0053a0001c0001t0001g0057others(59): Show | 63 | 306 | 0.2059 | 1 | c.531 others(18): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 37/49 | chr1 | TogoVar | ||||||
ABCA4_chr1_93987834_94126148 | 94019019 | G | GT | intron_variant | MODIFIER | HG00408.hp2 HG00621.hp1 HG00621.hp2 others(33): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(20): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(20): Show | a0001c0001t0001g0092a0001c0001t0001g0110a0001c0001t0001g0139others(33): Show | 36 | 306 | 0.1177 | 1 | c.519 others(9): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 36/49 | chr1 | TogoVar | ||||||
ABCA4_chr1_93987834_94126148 | 94026217 | T | TC | intron_variant | MODIFIER | HG00280.hp2 HG01516.hp2 HG02647.hp2 others(5): Show |
a0001a0003 | a0001c0001a0001c0064a0003c0008others(2): Show | a0001c0001t0001a0001c0064t0001a0003c0008t0002others(2): Show | a0001c0001t0001g0075a0001c0001t0001g0099a0001c0001t0001g0226others(5): Show | 8 | 306 | 0.0261 | 1 | c.454 others(10): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 30/49 | chr1 | TogoVar | ||||||
ABCA4_chr1_93987834_94126148 | 94028906 | C | CA | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(81): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0003a0001c0009others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(23): Show | a0001c0001t0001g0019a0001c0001t0001g0086a0001c0001t0001g0092others(79): Show | 84 | 306 | 0.2745 | 1 | c.453 others(9): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 30/49 | chr1 | TogoVar | ||||||
ABCA4_chr1_93987834_94126148 | 94033423 | C | CA | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00423.hp1 others(95): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0003a0001c0004others(36): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(37): Show | a0001c0001t0001g0003a0001c0001t0001g0027a0001c0001t0001g0053others(93): Show | 98 | 306 | 0.3203 | 1 | c.386 others(10): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 26/49 | chr1 | TogoVar | ||||||
ABCA4_chr1_93987834_94126148 | 94033438 | G | GA | intron_variant | MODIFIER | HG02809.hp1 HG02896.hp1 HG02970.hp1 others(5): Show |
a0009a0021a0029others(3): Show | a0009c0018a0009c0079a0021c0104others(4): Show | a0009c0018t0001a0009c0079t0001a0021c0104t0001others(4): Show | a0009c0018t0001g0007a0009c0018t0001g0061a0009c0079t0001g0133others(5): Show | 8 | 306 | 0.0261 | 1 | c.386 others(10): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 26/49 | chr1 | TogoVar | ||||||
ABCA4_chr1_93987834_94126148 | 94042098 | C | CA | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00642.hp1 others(58): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0005a0001c0006others(27): Show | a0001c0001t0001a0001c0005t0001a0001c0006t0001others(27): Show | a0001c0001t0001g0019a0001c0001t0001g0060a0001c0001t0001g0075others(56): Show | 61 | 306 | 0.1994 | 1 | c.332 others(9): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 22/49 | chr1 | TogoVar | ||||||
ABCA4_chr1_93987834_94126148 | 94043771 | C | CT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(180): Show |
a0001a0002a0003others(31): Show | a0001c0001a0001c0003a0001c0004others(65): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(66): Show | a0001c0001t0001g0019a0001c0001t0001g0056a0001c0001t0001g0060others(178): Show | 183 | 306 | 0.5980 | 1 | c.305 others(9): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 20/49 | chr1 | TogoVar | ||||||
ABCA4_chr1_93987834_94126148 | 94045318 | C | CT | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG01169.hp2 others(9): Show |
a0001a0003a0014others(3): Show | a0001c0001a0001c0003a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(9): Show | a0001c0001t0001g0239a0001c0001t0002g0112a0001c0003t0001g0263others(9): Show | 12 | 306 | 0.0392 | 1 | c.291 others(9): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 19/49 | chr1 | TogoVar | ||||||
ABCA4_chr1_93987834_94126148 | 94050298 | G | GT | intron_variant | MODIFIER | HG01074.hp2 HG01106.hp1 HG01192.hp2 others(13): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0006a0001c0055others(10): Show | a0001c0001t0001a0001c0006t0001a0001c0055t0005others(10): Show | a0001c0001t0001g0204a0001c0001t0001g0227a0001c0006t0001g0154others(12): Show | 16 | 306 | 0.0523 | 1 | c.265 others(10): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 17/49 | chr1 | TogoVar | ||||||
ABCA4_chr1_93987834_94126148 | 94057108 | T | TA | intron_variant | MODIFIER | HG01074.hp2 HG01106.hp1 HG01943.hp1 others(5): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0002c0028others(2): Show | a0001c0001t0001a0002c0002t0001a0002c0028t0001others(2): Show | a0001c0001t0001g0204a0001c0001t0001g0227a0002c0002t0001g0001others(4): Show | 8 | 306 | 0.0261 | 1 | c.216 others(9): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 14/49 | chr1 | TogoVar | ||||||
ABCA4_chr1_93987834_94126148 | 94061940 | G | GC | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00639.hp2 others(95): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0003a0001c0004others(46): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(46): Show | a0001c0001t0001g0003a0001c0001t0001g0027a0001c0001t0001g0106others(93): Show | 98 | 306 | 0.3203 | 1 | c.193 others(9): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 13/49 | chr1 | TogoVar | ||||||
ABCA4_chr1_93987834_94126148 | 94065173 | C | CA | intron_variant | MODIFIER | HG03130.hp1 HG03209.hp1 HG03453.hp1 |
a0003a0005a0023 | a0003c0061a0005c0037a0023c0036 | a0003c0061t0001a0005c0037t0001a0023c0036t0003 | a0003c0061t0001g0032a0005c0037t0001g0051a0023c0036t0003g0068 | 3 | 306 | 0.0098 | 1 | c.155 others(10): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 11/49 | chr1 | TogoVar | ||||||
ABCA4_chr1_93987834_94126148 | 94073831 | A | AG | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(192): Show |
a0001a0002a0003others(36): Show | a0001c0001a0001c0003a0001c0004others(75): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(76): Show | a0001c0001t0001g0003a0001c0001t0001g0053a0001c0001t0001g0060others(189): Show | 195 | 306 | 0.6373 | 1 | c.155 others(20): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 11/49 | chr1 | TogoVar | ||||||
ABCA4_chr1_93987834_94126148 | 94075352 | T | TA | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00423.hp2 others(24): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0004a0001c0005others(6): Show | a0001c0001t0001a0001c0004t0001a0001c0005t0001others(6): Show | a0001c0001t0001g0092a0001c0001t0001g0105a0001c0001t0001g0148others(24): Show | 27 | 306 | 0.0882 | 1 | c.155 others(10): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 11/49 | chr1 | TogoVar | ||||||
ABCA4_chr1_93987834_94126148 | 94076570 | A | AT | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00544.hp2 others(66): Show |
a0002a0007a0012others(14): Show | a0002c0002a0002c0010a0002c0028others(24): Show | a0002c0002t0001a0002c0010t0001a0002c0028t0001others(24): Show | a0002c0002t0001g0001a0002c0002t0001g0010a0002c0002t0001g0020others(64): Show | 69 | 306 | 0.2255 | 1 | c.155 others(10): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 11/49 | chr1 | TogoVar | ||||||
ABCA4_chr1_93987834_94126148 | 94078579 | A | AC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(230): Show |
a0001a0002a0003others(39): Show | a0001c0001a0001c0003a0001c0004others(87): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(89): Show | a0001c0001t0001g0003a0001c0001t0001g0019a0001c0001t0001g0053others(226): Show | 233 | 306 | 0.7614 | 1 | c.135 others(8): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 10/49 | chr1 | TogoVar | ||||||
ABCA4_chr1_93987834_94126148 | 94079993 | C | CA | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp2 HG00738.hp2 others(22): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0004t0001a0001c0005t0001others(12): Show | a0001c0001t0001g0019a0001c0001t0001g0057a0001c0001t0001g0110others(21): Show | 25 | 306 | 0.0817 | 1 | c.109 others(9): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 8/49 | chr1 | TogoVar | ||||||
ABCA4_chr1_93987834_94126148 | 94089470 | A | AT | intron_variant | MODIFIER | HG00544.hp1 HG00621.hp2 HG01943.hp2 others(13): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(8): Show | a0001c0001t0001g0253a0001c0001t0001g0271a0001c0003t0001g0281others(13): Show | 16 | 306 | 0.0523 | 1 | c.769 others(9): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 6/49 | chr1 | TogoVar | ||||||
ABCA4_chr1_93987834_94126148 | 94093655 | G | GC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(235): Show |
a0001a0002a0003others(41): Show | a0001c0001a0001c0003a0001c0004others(91): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(93): Show | a0001c0001t0001g0003a0001c0001t0001g0019a0001c0001t0001g0053others(231): Show | 238 | 306 | 0.7778 | 1 | c.768 others(18): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 6/49 | chr1 | TogoVar | ||||||
ABCA4_chr1_93987834_94126148 | 94095749 | G | GT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(141): Show |
a0001a0002a0003others(31): Show | a0001c0001a0001c0003a0001c0004others(64): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(65): Show | a0001c0001t0001g0019a0001c0001t0001g0060a0001c0001t0001g0074others(139): Show | 144 | 306 | 0.4706 | 1 | c.768 others(9): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 6/49 | chr1 | TogoVar | ||||||
ABCA4_chr1_93987834_94126148 | 94114488 | C | CT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00423.hp2 others(69): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0003a0001c0004others(36): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(36): Show | a0001c0001t0001g0132a0001c0001t0001g0238a0001c0001t0001g0239others(68): Show | 72 | 306 | 0.2353 | 1 | c.67- others(8): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 1/49 | chr1 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69252016 | A | AT | intron_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG01257.hp2 others(8): Show |
a0001a0002a0013 | a0001c0004a0002c0001a0013c0019 | a0001c0004t0005a0002c0001t0002a0002c0001t0011others(1): Show | a0001c0004t0005g0016a0001c0004t0005g0324a0001c0004t0005g0325others(8): Show | 11 | 350 | 0.0314 | 1 | c.441 others(9): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 34/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69252178 | A | AT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(116): Show |
a0001a0010a0011 | a0001c0002a0001c0006a0001c0008others(5): Show | a0001c0002t0001a0001c0002t0012a0001c0002t0013others(11): Show | a0001c0002t0001g0002a0001c0002t0001g0045a0001c0002t0001g0046others(115): Show | 119 | 350 | 0.3400 | 1 | c.441 others(9): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 34/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69252836 | C | CA | intron_variant | MODIFIER | HG00639.hp2 HG01109.hp2 HG01175.hp2 others(31): Show |
a0001a0002a0003others(1): Show | a0001c0004a0001c0022a0002c0001others(2): Show | a0001c0004t0003a0001c0004t0017a0001c0004t0026others(9): Show | a0001c0004t0003g0166a0001c0004t0003g0331a0001c0004t0003g0336others(30): Show | 34 | 350 | 0.0971 | 1 | c.441 others(9): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 34/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69257353 | C | CA | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01884.hp1 others(9): Show |
a0001a0002a0003others(2): Show | a0001c0002a0002c0001a0003c0003others(2): Show | a0001c0002t0001a0002c0001t0002a0003c0003t0003others(3): Show | a0001c0002t0001g0099a0001c0002t0001g0100a0001c0002t0001g0103others(9): Show | 12 | 350 | 0.0343 | 1 | c.373 others(10): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 28/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69263697 | C | CT | intron_variant | MODIFIER | HG00140.hp1 HG01975.hp1 HG02273.hp2 others(5): Show |
a0002a0007 | a0002c0001a0007c0011 | a0002c0001t0002a0007c0011t0002 | a0002c0001t0002g0225a0002c0001t0002g0235a0002c0001t0002g0241others(5): Show | 8 | 350 | 0.0229 | 1 | c.331 others(10): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 24/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69282783 | A | AG | intron_variant | MODIFIER | HG02717.hp1 HG02976.hp2 NA18906.hp2 |
a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0010a0001c0002t0012g0011a0001c0002t0012g0012 | 3 | 350 | 0.0086 | 1 | c.239 others(10): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 18/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69282980 | C | CT | intron_variant | MODIFIER | HG00741.hp1 HG01169.hp1 HG01192.hp1 others(28): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0006a0001c0008others(4): Show | a0001c0002t0001a0001c0006t0001a0001c0006t0007others(5): Show | a0001c0002t0001g0063a0001c0002t0001g0064a0001c0002t0001g0113others(28): Show | 31 | 350 | 0.0886 | 1 | c.239 others(9): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 18/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69283859 | T | TA | intron_variant | MODIFIER | HG00140.hp1 HG01358.hp2 HG01952.hp1 others(12): Show |
a0002 | a0002c0001 | a0002c0001t0002a0002c0001t0025 | a0002c0001t0002g0211a0002c0001t0002g0223a0002c0001t0002g0225others(12): Show | 15 | 350 | 0.0429 | 1 | c.239 others(8): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 18/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69285708 | T | TA | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00642.hp1 others(18): Show |
a0002a0003a0008 | a0002c0001a0003c0003a0008c0012 | a0002c0001t0002a0002c0001t0009a0003c0003t0003others(3): Show | a0002c0001t0002g0291a0002c0001t0009g0290a0003c0003t0003g0015others(18): Show | 21 | 350 | 0.0600 | 1 | c.227 others(9): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 17/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69291186 | G | GT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(112): Show |
a0001a0003a0004others(2): Show | a0001c0002a0001c0006a0001c0008others(6): Show | a0001c0002t0001a0001c0002t0013a0001c0002t0020others(11): Show | a0001c0002t0001g0002a0001c0002t0001g0045a0001c0002t0001g0046others(111): Show | 115 | 350 | 0.3286 | 1 | c.160 others(8): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 12/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69303759 | T | TA | intron_variant | MODIFIER | HG01361.hp1 HG01891.hp1 HG01928.hp1 others(3): Show |
a0001a0002a0004 | a0001c0002a0002c0001a0004c0005 | a0001c0002t0001a0002c0001t0002a0002c0001t0004others(1): Show | a0001c0002t0001g0045a0001c0002t0001g0047a0002c0001t0002g0289others(3): Show | 6 | 350 | 0.0171 | 1 | c.931 others(8): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69303785 | A | AT | intron_variant | MODIFIER | HG02615.hp1 HG02809.hp1 HG03041.hp2 others(2): Show |
a0001a0003a0004 | a0001c0010a0003c0003a0004c0005 | a0001c0010t0010a0003c0003t0015a0004c0005t0029 | a0001c0010t0010g0332a0001c0010t0010g0335a0003c0003t0015g0153others(2): Show | 5 | 350 | 0.0143 | 1 | c.931 others(16): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69315782 | C | CA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(227): Show |
a0001a0002a0003others(9): Show | a0001c0002a0001c0006a0001c0008others(14): Show | a0001c0002t0001a0001c0002t0012a0001c0002t0013others(29): Show | a0001c0002t0001g0002a0001c0002t0001g0045a0001c0002t0001g0046others(226): Show | 230 | 350 | 0.6571 | 1 | c.-15 others(9): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 1/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69316592 | T | TA | intron_variant | MODIFIER | HG00642.hp2 HG01934.hp2 HG02145.hp2 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0010a0002c0001a0003c0003others(1): Show | a0001c0010t0010a0002c0001t0002a0002c0001t0011others(2): Show | a0001c0010t0010g0334a0002c0001t0002g0242a0002c0001t0002g0299others(7): Show | 10 | 350 | 0.0286 | 1 | c.-15 others(9): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 1/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69317399 | C | CA | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(96): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0006a0001c0008others(8): Show | a0001c0002t0001a0001c0002t0013a0001c0006t0018others(11): Show | a0001c0002t0001g0002a0001c0002t0001g0045a0001c0002t0001g0046others(95): Show | 99 | 350 | 0.2829 | 1 | c.-15 others(9): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 1/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69318575 | T | TA | intron_variant | MODIFIER | HG00741.hp1 HG01261.hp1 HG01516.hp1 others(8): Show |
a0001a0002a0011 | a0001c0002a0001c0004a0002c0001others(1): Show | a0001c0002t0001a0001c0004t0014a0001c0004t0027others(2): Show | a0001c0002t0001g0112a0001c0002t0001g0113a0001c0002t0001g0114others(8): Show | 11 | 350 | 0.0314 | 1 | c.-15 others(9): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 1/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69322363 | C | CA | intron_variant | MODIFIER | HG00323.hp1 HG01074.hp1 HG01261.hp2 others(11): Show |
a0001a0002a0003 | a0001c0004a0001c0010a0002c0001others(1): Show | a0001c0004t0003a0001c0010t0010a0002c0001t0002others(4): Show | a0001c0004t0003g0338a0001c0010t0010g0333a0001c0010t0010g0334others(11): Show | 14 | 350 | 0.0400 | 1 | c.-16 others(9): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 1/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69325141 | C | CA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(106): Show |
a0001a0002a0003others(9): Show | a0001c0004a0002c0001a0003c0003others(9): Show | a0001c0004t0003a0002c0001t0002a0002c0001t0009others(17): Show | a0001c0004t0003g0336a0001c0004t0003g0337a0001c0004t0003g0338others(106): Show | 109 | 350 | 0.3114 | 1 | c.-16 others(9): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 1/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69325308 | C | CA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(106): Show |
a0001a0002a0006others(7): Show | a0001c0002a0001c0004a0002c0001others(8): Show | a0001c0002t0001a0001c0004t0003a0002c0001t0002others(16): Show | a0001c0002t0001g0215a0001c0004t0003g0336a0001c0004t0003g0337others(106): Show | 109 | 350 | 0.3114 | 1 | c.-16 others(9): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 1/38 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69078210 | G | GT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(115): Show |
a0001a0002a0003others(8): Show | a0001c0001a0002c0002a0002c0019others(10): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(13): Show | a0001c0001t0001g0163a0002c0002t0001g0023a0002c0002t0001g0171others(103): Show | 118 | 326 | 0.3620 | 1 | c.*76 others(10): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 491 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69084670 | C | CT | intron_variant | MODIFIER | HG00639.hp2 HG01099.hp2 HG01109.hp1 others(33): Show |
a0002a0003a0005others(5): Show | a0002c0002a0003c0003a0005c0005others(5): Show | a0002c0002t0002a0003c0003t0001a0005c0005t0001others(5): Show | a0002c0002t0002g0257a0003c0003t0001g0010a0003c0003t0001g0011others(27): Show | 36 | 326 | 0.1104 | 1 | c.418 others(9): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 32/38 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69085519 | C | CA | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(134): Show |
a0001a0002a0003others(10): Show | a0001c0001a0002c0002a0003c0003others(12): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(114): Show | 137 | 326 | 0.4203 | 1 | c.402 others(9): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 31/38 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69091523 | C | CT | intron_variant | MODIFIER | HG02486.hp1 HG02886.hp2 NA18940.hp1 others(3): Show |
a0002a0004a0005 | a0002c0002a0004c0004a0005c0005 | a0002c0002t0002a0004c0004t0002a0005c0005t0002 | a0002c0002t0002g0177a0002c0002t0002g0189a0002c0002t0002g0202others(3): Show | 6 | 326 | 0.0184 | 1 | c.340 others(9): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 25/38 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69098625 | C | CA | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG01070.hp2 others(20): Show |
a0001a0003a0004others(2): Show | a0001c0001a0003c0003a0003c0009others(4): Show | a0001c0001t0001a0003c0003t0001a0003c0009t0001others(4): Show | a0001c0001t0001g0015a0001c0001t0001g0033a0001c0001t0001g0039others(15): Show | 23 | 326 | 0.0706 | 1 | c.301 others(9): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 22/38 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69099948 | T | TC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(220): Show |
a0001a0002a0007others(10): Show | a0001c0001a0002c0002a0002c0019others(11): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(14): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(193): Show | 223 | 326 | 0.6841 | 1 | c.301 others(9): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 22/38 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69101595 | C | CA | intron_variant | MODIFIER | HG01516.hp2 HG02135.hp1 HG02145.hp2 others(16): Show |
a0001a0002a0006others(3): Show | a0001c0001a0002c0002a0006c0007others(4): Show | a0001c0001t0001a0002c0002t0002a0006c0007t0001others(4): Show | a0001c0001t0001g0083a0001c0001t0001g0086a0001c0001t0001g0094others(12): Show | 19 | 326 | 0.0583 | 1 | c.287 others(9): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 21/38 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69104565 | A | AT | intron_variant | MODIFIER | HG00609.hp1 HG01074.hp1 HG01167.hp2 others(36): Show |
a0004a0005a0008others(2): Show | a0004c0004a0005c0005a0008c0008others(2): Show | a0004c0004t0002a0005c0005t0002a0008c0008t0002others(2): Show | a0004c0004t0002g0006a0004c0004t0002g0019a0004c0004t0002g0020others(29): Show | 39 | 326 | 0.1196 | 1 | c.274 others(9): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 20/38 | chr17 | TogoVar |