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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCA10_chr17_69143007_69233824 | 69143827 | C | CAGT | downstream_gene_variant | MODIFIER | HG02451.hp2 HG03098.hp2 HG03225.hp1 others(2): Show |
a0008 | a0008c0009 | a0008c0009t0009 | a0008c0009t0009g0004a0008c0009t0009g0226a0008c0009t0009g0244others(1): Show | 5 | 348 | 0.0144 | 3 | c.*49 others(14): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 4179 | chr17 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69147216 | G | GTTT | downstream_gene_variant | MODIFIER | HG01433.hp2 HG02451.hp2 HG02572.hp1 others(6): Show |
a0004a0008 | a0004c0004a0008c0009 | a0004c0004t0003a0008c0009t0009 | a0004c0004t0003g0005a0004c0004t0003g0233a0008c0009t0009g0004others(4): Show | 9 | 348 | 0.0259 | 3 | c.*16 others(14): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 790 | chr17 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69172802 | G | GGTT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(230): Show |
a0002a0003a0004others(14): Show | a0002c0002a0002c0015a0003c0003others(20): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(28): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(225): Show | 233 | 348 | 0.6695 | 3 | c.316 others(22): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 25/38 | chr17 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69210081 | T | TTTA | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00642.hp1 others(84): Show |
a0001a0003a0005others(5): Show | a0001c0001a0001c0034a0003c0028others(6): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(9): Show | a0001c0001t0002g0001a0001c0001t0002g0012a0001c0001t0002g0026others(83): Show | 87 | 348 | 0.2500 | 3 | c.100 others(22): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 9/38 | chr17 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 214936938 | G | GAAA | intron_variant | MODIFIER | HG01346.hp2 HG01891.hp1 HG01943.hp2 others(8): Show |
a0001a0003a0004 | a0001c0004a0001c0012a0001c0015others(3): Show | a0001c0004t0002a0001c0012t0004a0001c0012t0014others(4): Show | a0001c0004t0002g0137a0001c0004t0002g0138a0001c0012t0004g0039others(8): Show | 11 | 198 | 0.0556 | 3 | c.754 others(20): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 51/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 214940755 | T | TAGA | intron_variant | MODIFIER | HG02622.hp2 HG03471.hp1 NA19240.hp2 others(1): Show |
a0001a0008a0019 | a0001c0015a0008c0028a0019c0047 | a0001c0015t0009a0008c0028t0003a0019c0047t0003 | a0001c0015t0009g0006a0008c0028t0003g0081a0008c0028t0003g0083others(1): Show | 4 | 198 | 0.0202 | 3 | c.743 others(22): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 50/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 214943157 | A | AGAT | intron_variant | MODIFIER | HG00735.hp2 HG01070.hp2 HG01071.hp1 others(54): Show |
a0001a0002a0003others(7): Show | a0001c0004a0001c0005a0001c0009others(31): Show | a0001c0004t0003a0001c0005t0003a0001c0009t0003others(42): Show | a0001c0004t0003g0062a0001c0005t0003g0077a0001c0009t0003g0157others(54): Show | 57 | 198 | 0.2879 | 3 | c.734 others(20): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 49/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 214963923 | C | CAAA | intron_variant | MODIFIER | HG00140.hp1 HG00735.hp2 HG01070.hp1 others(69): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0005others(32): Show | a0001c0001t0002a0001c0001t0012a0001c0001t0020others(45): Show | a0001c0001t0002g0025a0001c0001t0002g0030a0001c0001t0002g0035others(69): Show | 72 | 198 | 0.3636 | 3 | c.588 others(22): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 39/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 214977880 | C | CTTT | intron_variant | MODIFIER | HG01243.hp2 HG01258.hp2 HG02071.hp2 others(5): Show |
a0001a0016 | a0001c0001a0001c0051a0016c0039 | a0001c0001t0002a0001c0001t0012a0001c0051t0004others(1): Show | a0001c0001t0002g0025a0001c0001t0002g0030a0001c0001t0002g0121others(5): Show | 8 | 198 | 0.0404 | 3 | c.512 others(20): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 33/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 214981942 | T | TTTA | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00438.hp2 others(45): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(22): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0022others(26): Show | a0001c0001t0002g0066a0001c0002t0001g0027a0001c0002t0001g0033others(45): Show | 48 | 198 | 0.2424 | 3 | c.457 others(20): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 30/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 214984094 | C | CTTT | intron_variant | MODIFIER | HG02451.hp2 HG02622.hp2 HG02896.hp2 others(8): Show |
a0001a0004a0008others(1): Show | a0001c0005a0001c0015a0004c0018others(2): Show | a0001c0005t0005a0001c0015t0007a0001c0015t0009others(3): Show | a0001c0005t0005g0109a0001c0005t0005g0110a0001c0005t0005g0111others(8): Show | 11 | 198 | 0.0556 | 3 | c.416 others(20): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 28/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215016582 | C | CAAA | intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG02109.hp2 others(13): Show |
a0001a0002 | a0001c0005a0001c0010a0001c0012others(6): Show | a0001c0005t0005a0001c0010t0004a0001c0010t0009others(10): Show | a0001c0005t0005g0075a0001c0005t0005g0109a0001c0005t0005g0111others(13): Show | 16 | 198 | 0.0808 | 3 | c.178 others(20): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 14/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215041551 | C | CAAA | intron_variant | MODIFIER | HG02280.hp2 HG02559.hp1 HG02572.hp1 others(16): Show |
a0002 | a0002c0007a0002c0008a0002c0013others(3): Show | a0002c0007t0002a0002c0007t0006a0002c0007t0017others(9): Show | a0002c0007t0002g0105a0002c0007t0006g0175a0002c0007t0006g0176others(16): Show | 19 | 198 | 0.0960 | 3 | c.872 others(20): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 7/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215065297 | T | TAAA | intron_variant | MODIFIER | HG00423.hp2 HG00741.hp2 HG01070.hp2 others(16): Show |
a0001a0002a0007others(3): Show | a0001c0003a0001c0006a0001c0010others(7): Show | a0001c0003t0001a0001c0003t0002a0001c0006t0002others(8): Show | a0001c0003t0001g0034a0001c0003t0001g0038a0001c0003t0001g0122others(16): Show | 19 | 198 | 0.0960 | 3 | c.164 others(20): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215070159 | C | CAAT | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00423.hp2 others(144): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0002a0001c0003others(55): Show | a0001c0001t0002a0001c0001t0012a0001c0001t0020others(86): Show | a0001c0001t0002g0030a0001c0001t0002g0035a0001c0001t0002g0117others(144): Show | 147 | 198 | 0.7424 | 3 | c.164 others(20): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215081495 | A | AAAG | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp1 others(113): Show |
a0001a0002a0004others(14): Show | a0001c0001a0001c0002a0001c0003others(38): Show | a0001c0001t0002a0001c0001t0012a0001c0001t0013others(61): Show | a0001c0001t0002g0025a0001c0001t0002g0030a0001c0001t0002g0035others(113): Show | 116 | 198 | 0.5859 | 3 | c.164 others(22): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215082043 | C | CTTT | intron_variant | MODIFIER | HG01346.hp2 HG01943.hp2 HG01978.hp2 others(2): Show |
a0001a0011 | a0001c0001a0001c0004a0001c0022others(1): Show | a0001c0001t0002a0001c0004t0002a0001c0022t0006others(1): Show | a0001c0001t0002g0170a0001c0004t0002g0137a0001c0004t0002g0138others(2): Show | 5 | 198 | 0.0253 | 3 | c.164 others(22): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215086919 | T | TTTA | intron_variant | MODIFIER | HG01243.hp2 HG01258.hp2 HG01975.hp2 others(9): Show |
a0001a0002a0016 | a0001c0001a0001c0009a0001c0040others(4): Show | a0001c0001t0002a0001c0009t0001a0001c0009t0008others(6): Show | a0001c0001t0002g0025a0001c0009t0001g0136a0001c0009t0008g0188others(9): Show | 12 | 198 | 0.0606 | 3 | c.164 others(22): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215103263 | C | CTTT | intron_variant | MODIFIER | HG02622.hp2 HG03471.hp1 HG03540.hp2 others(1): Show |
a0001a0002a0019 | a0001c0012a0001c0015a0002c0008others(1): Show | a0001c0012t0004a0001c0015t0009a0002c0008t0007others(1): Show | a0001c0012t0004g0039a0001c0015t0009g0006a0002c0008t0007g0005others(1): Show | 4 | 198 | 0.0202 | 3 | c.163 others(20): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215112333 | A | ATTT | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG02055.hp1 others(12): Show |
a0001a0002a0004others(2): Show | a0001c0044a0002c0007a0002c0008others(7): Show | a0001c0044t0004a0002c0007t0003a0002c0007t0006others(8): Show | a0001c0044t0004g0067a0002c0007t0003g0017a0002c0007t0003g0069others(12): Show | 15 | 198 | 0.0758 | 3 | c.70- others(16): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215119734 | T | TAAA | intron_variant | MODIFIER | HG01243.hp2 HG02109.hp1 HG02132.hp1 others(11): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0004a0001c0009others(8): Show | a0001c0001t0012a0001c0004t0010a0001c0009t0008others(9): Show | a0001c0001t0012g0191a0001c0001t0012g0192a0001c0004t0010g0198others(11): Show | 14 | 198 | 0.0707 | 3 | c.70- others(18): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215128566 | T | TTTC | intron_variant | MODIFIER | HG00140.hp2 HG00741.hp2 HG01123.hp2 others(88): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0004a0001c0005others(43): Show | a0001c0001t0012a0001c0004t0001a0001c0004t0010others(62): Show | a0001c0001t0012g0191a0001c0001t0012g0192a0001c0004t0001g0091others(88): Show | 91 | 198 | 0.4596 | 3 | c.69+ others(18): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215131699 | A | ATCG | intron_variant | MODIFIER | HG02717.hp2 NA18906.hp1 |
a0001a0004 | a0001c0025a0004c0061 | a0001c0025t0015a0004c0061t0015 | a0001c0025t0015g0182a0004c0061t0015g0181 | 2 | 198 | 0.0101 | 3 | c.69+ others(18): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215133149 | A | ATTT | intron_variant | MODIFIER | HG00423.hp1 HG01978.hp1 HG01978.hp2 others(2): Show |
a0001a0015 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0002a0001c0002t0001a0001c0005t0001others(2): Show | a0001c0001t0002g0170a0001c0002t0001g0156a0001c0005t0001g0145others(2): Show | 5 | 198 | 0.0253 | 3 | c.69+ others(18): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48178975 | C | CCAA | intron_variant | MODIFIER | HG01074.hp2 HG02083.hp1 HG02132.hp2 others(13): Show |
a0001a0005a0006others(11): Show | a0001c0001a0005c0005a0006c0023others(11): Show | a0001c0001t0001a0001c0001t0004a0005c0005t0003others(12): Show | a0001c0001t0001g0177a0001c0001t0004g0057a0005c0005t0003g0090others(13): Show | 16 | 178 | 0.0899 | 3 | c.69+ others(18): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 1/61 | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48194022 | A | AGAT | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp1 others(174): Show |
a0001a0002a0003others(84): Show | a0001c0001a0001c0010a0001c0103others(110): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(134): Show | a0001c0001t0001g0004a0001c0001t0001g0027a0001c0001t0001g0040others(174): Show | 177 | 178 | 0.9944 | 3 | c.163 others(18): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 2/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48219883 | A | ACAC | intron_variant | MODIFIER | HG02258.hp2 HG02886.hp2 |
a0048a0055 | a0048c0041a0055c0049 | a0048c0041t0004a0055c0049t0001 | a0048c0041t0004g0039a0055c0049t0001g0086 | 2 | 178 | 0.0112 | 3 | c.439 others(18): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 4/61 | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48232139 | A | ATTT | intron_variant | MODIFIER | HG00735.hp2 HG01167.hp1 HG01169.hp2 others(4): Show |
a0001a0002a0006others(2): Show | a0001c0001a0002c0002a0002c0065others(3): Show | a0001c0001t0004a0002c0002t0002a0002c0065t0006others(3): Show | a0001c0001t0004g0164a0002c0002t0002g0156a0002c0002t0002g0168others(4): Show | 7 | 178 | 0.0393 | 3 | c.764 others(20): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 7/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48293192 | G | GCCC | intron_variant | MODIFIER | HG01192.hp1 HG01192.hp2 HG02145.hp1 others(9): Show |
a0001a0007a0011others(4): Show | a0001c0001a0001c0010a0007c0011others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(8): Show | a0001c0001t0001g0058a0001c0001t0002g0065a0001c0001t0002g0085others(9): Show | 12 | 178 | 0.0674 | 3 | c.895 others(22): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 20/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48293204 | C | CCCA | intron_variant | MODIFIER | HG01070.hp1 HG03139.hp2 HG03654.hp2 |
a0001a0008a0016 | a0001c0001a0008c0032a0016c0095 | a0001c0001t0001a0008c0032t0002a0016c0095t0002 | a0001c0001t0001g0004a0008c0032t0002g0055a0016c0095t0002g0043 | 3 | 178 | 0.0169 | 3 | c.895 others(22): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 20/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48358211 | A | AAGG | intron_variant | MODIFIER | HG00408.hp1 HG00738.hp1 HG01123.hp1 others(11): Show |
a0001a0003a0004others(9): Show | a0001c0010a0003c0003a0004c0008others(9): Show | a0001c0010t0001a0003c0003t0004a0004c0008t0004others(10): Show | a0001c0010t0001g0050a0003c0003t0004g0028a0004c0008t0004g0167others(11): Show | 14 | 178 | 0.0787 | 3 | c.106 others(24): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 31/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48431342 | A | AAAC | intron_variant | MODIFIER | HG00558.hp2 HG00738.hp1 HG01074.hp1 others(39): Show |
a0001a0005a0006others(22): Show | a0001c0001a0001c0103a0005c0005others(26): Show | a0001c0001t0001a0001c0103t0006a0005c0005t0003others(29): Show | a0001c0001t0001g0040a0001c0001t0001g0064a0001c0001t0001g0177others(39): Show | 42 | 178 | 0.2360 | 3 | c.125 others(24): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 42/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48543864 | C | CATT | intron_variant | MODIFIER | HG00408.hp1 HG00741.hp1 HG01070.hp2 others(33): Show |
a0001a0002a0003others(24): Show | a0001c0001a0002c0002a0002c0022others(27): Show | a0001c0001t0004a0002c0002t0004a0002c0022t0004others(28): Show | a0001c0001t0004g0057a0001c0001t0004g0164a0002c0002t0004g0106others(33): Show | 36 | 178 | 0.2023 | 3 | c.143 others(26): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48554822 | T | TTTA | intron_variant | MODIFIER | HG00735.hp2 HG02055.hp2 HG02109.hp1 others(8): Show |
a0001a0002a0004others(8): Show | a0001c0103a0002c0065a0004c0079others(8): Show | a0001c0103t0006a0002c0065t0006a0004c0079t0006others(8): Show | a0001c0103t0006g0059a0002c0065t0006g0128a0004c0079t0006g0147others(8): Show | 11 | 178 | 0.0618 | 3 | c.143 others(26): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48565214 | C | CTTT | intron_variant | MODIFIER | HG00735.hp2 HG02109.hp2 HG02280.hp2 others(4): Show |
a0001a0002a0004others(4): Show | a0001c0103a0002c0065a0004c0079others(4): Show | a0001c0103t0006a0002c0065t0006a0004c0079t0006others(4): Show | a0001c0103t0006g0059a0002c0065t0006g0128a0004c0079t0006g0147others(4): Show | 7 | 178 | 0.0393 | 3 | c.143 others(26): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48570319 | C | CTTT | intron_variant | MODIFIER | HG00558.hp2 HG00738.hp1 HG00741.hp2 others(15): Show |
a0006a0007a0010others(8): Show | a0006c0007a0006c0023a0007c0101others(11): Show | a0006c0007t0002a0006c0007t0003a0006c0023t0003others(13): Show | a0006c0007t0002g0129a0006c0007t0003g0121a0006c0007t0003g0137others(15): Show | 18 | 178 | 0.1011 | 3 | c.143 others(24): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48589347 | T | TACC | intron_variant | MODIFIER | HG02109.hp1 HG02280.hp1 HG03486.hp1 others(1): Show |
a0005a0015a0068others(1): Show | a0005c0024a0015c0076a0068c0067others(1): Show | a0005c0024t0001a0015c0076t0001a0068c0067t0009others(1): Show | a0005c0024t0001g0018a0015c0076t0001g0021a0068c0067t0009g0142others(1): Show | 4 | 178 | 0.0225 | 3 | c.146 others(24): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 57/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48625517 | T | TTTA | intron_variant | MODIFIER | HG02280.hp1 HG02886.hp1 HG03486.hp1 others(2): Show |
a0007a0039a0057others(2): Show | a0007c0011a0039c0110a0057c0036others(2): Show | a0007c0011t0007a0039c0110t0007a0057c0036t0007others(2): Show | a0007c0011t0007g0165a0039c0110t0007g0126a0057c0036t0007g0083others(2): Show | 5 | 178 | 0.0281 | 3 | c.148 others(26): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 59/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48625607 | A | ATGT | intron_variant | MODIFIER | NA18986.hp1 NA19011.hp2 NA19074.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042a0001c0001t0001g0058a0001c0001t0001g0063 | 3 | 178 | 0.0169 | 3 | c.148 others(26): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 59/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48629575 | C | CAAA | intron_variant | MODIFIER | HG01975.hp2 HG02083.hp2 HG02280.hp1 others(11): Show |
a0001a0003a0007others(9): Show | a0001c0103a0003c0004a0007c0011others(10): Show | a0001c0103t0006a0003c0004t0002a0007c0011t0007others(10): Show | a0001c0103t0006g0059a0003c0004t0002g0035a0007c0011t0007g0165others(11): Show | 14 | 178 | 0.0787 | 3 | c.148 others(26): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 59/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48630817 | G | GTTT | intron_variant | MODIFIER | HG02280.hp1 HG02886.hp1 HG03486.hp1 others(2): Show |
a0007a0039a0057others(2): Show | a0007c0011a0039c0110a0057c0036others(2): Show | a0007c0011t0007a0039c0110t0007a0057c0036t0007others(2): Show | a0007c0011t0007g0165a0039c0110t0007g0126a0057c0036t0007g0083others(2): Show | 5 | 178 | 0.0281 | 3 | c.148 others(26): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 59/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48637381 | C | CAAA | intron_variant | MODIFIER | HG01074.hp2 HG01433.hp1 HG02280.hp1 others(4): Show |
a0001a0036a0068others(2): Show | a0001c0001a0036c0098a0068c0067others(2): Show | a0001c0001t0001a0036c0098t0001a0068c0067t0009others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0064a0001c0001t0001g0177others(4): Show | 7 | 178 | 0.0393 | 3 | c.148 others(24): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 59/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48646525 | A | ATTT | 3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00741.hp1 HG01070.hp2 others(21): Show |
a0001a0002a0003others(13): Show | a0001c0001a0002c0002a0002c0022others(15): Show | a0001c0001t0004a0002c0002t0004a0002c0022t0004others(15): Show | a0001c0001t0004g0057a0001c0001t0004g0164a0002c0002t0004g0106others(21): Show | 24 | 178 | 0.1348 | 3 | c.*10 others(14): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 62/62 | 1026 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||
ABCA13_chr7_48166458_48652497 | 48648504 | A | ACAT | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp1 others(157): Show |
a0001a0002a0003others(73): Show | a0001c0001a0001c0010a0001c0103others(98): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(118): Show | a0001c0001t0001g0004a0001c0001t0001g0027a0001c0001t0001g0040others(157): Show | 160 | 178 | 0.8989 | 3 | c.*29 others(14): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 1008 | chr7 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104779621 | G | GTTT | downstream_gene_variant | MODIFIER | HG02258.hp2 HG02486.hp2 HG02615.hp2 others(6): Show |
a0001a0002a0004others(4): Show | a0001c0035a0002c0015a0002c0031others(5): Show | a0001c0035t0004a0002c0015t0031a0002c0031t0001others(5): Show | a0001c0035t0004g0011a0002c0015t0031g0084a0002c0031t0001g0152others(6): Show | 9 | 318 | 0.0283 | 3 | c.*46 others(14): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 1384 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104794512 | T | TAAA | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(140): Show |
a0001a0003a0005others(13): Show | a0001c0001a0001c0005a0001c0035others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(76): Show | a0001c0001t0001g0026a0001c0001t0001g0077a0001c0001t0001g0082others(140): Show | 143 | 318 | 0.4497 | 3 | c.538 others(16): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 39/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104831149 | T | TAAA | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG02027.hp2 others(13): Show |
a0003a0006a0007others(2): Show | a0003c0009a0006c0004a0006c0012others(3): Show | a0003c0009t0003a0006c0004t0002a0006c0004t0003others(10): Show | a0003c0009t0003g0073a0006c0004t0002g0132a0006c0004t0003g0190others(13): Show | 16 | 318 | 0.0503 | 3 | c.171 others(18): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 13/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104839517 | G | GTTT | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00544.hp2 others(35): Show |
a0001a0002a0004others(9): Show | a0001c0108a0001c0109a0002c0033others(18): Show | a0001c0108t0002a0001c0109t0001a0002c0033t0002others(27): Show | a0001c0108t0002g0113a0001c0109t0001g0232a0002c0033t0002g0301others(35): Show | 38 | 318 | 0.1195 | 3 | c.105 others(20): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 9/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104839521 | T | TTTG | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00558.hp1 others(100): Show |
a0002a0003a0004others(14): Show | a0002c0011a0002c0015a0002c0024others(38): Show | a0002c0011t0004a0002c0011t0007a0002c0011t0012others(69): Show | a0002c0011t0004g0213a0002c0011t0004g0263a0002c0011t0007g0119others(100): Show | 103 | 318 | 0.3239 | 3 | c.105 others(20): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 9/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104860755 | C | CTTT | intron_variant | MODIFIER | HG00741.hp2 HG01255.hp2 HG01346.hp1 others(11): Show |
a0002a0003a0008others(2): Show | a0002c0017a0002c0025a0002c0032others(7): Show | a0002c0017t0026a0002c0025t0008a0002c0025t0015others(8): Show | a0002c0017t0026g0163a0002c0017t0026g0276a0002c0025t0008g0285others(11): Show | 14 | 318 | 0.0440 | 3 | c.543 others(18): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 6/49 | chr9 | TogoVar |