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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABAT_chr16_8669617_8789570 | 8673396 | CTGTGTGT others(5): Show |
C | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02257.hp2 HG02559.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0007others(1): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0007others(3): Show | a0001c0001t0001g0024a0001c0001t0003g0029a0002c0002t0007g0026others(4): Show | 7 | 362 | 0.0193 | -12 | c.-13 others(23): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1220 | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8709350 | TTTTATTT others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(251): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0011others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(71): Show | a0001c0001t0001g0024a0001c0001t0001g0038a0001c0001t0001g0058others(251): Show | 254 | 362 | 0.7017 | -12 | c.-41 others(31): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8724734 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp2 others(87): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0013others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0058a0001c0001t0001g0059a0001c0001t0001g0090others(87): Show | 90 | 362 | 0.2486 | -12 | c.-41 others(31): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8738598 | TTTTTTGT others(5): Show |
T | intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 362 | 0.0028 | -12 | c.70+ others(27): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8743318 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG02615.hp1 HG03579.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0047a0002c0004t0031 | a0001c0001t0001g0024a0001c0001t0001g0246a0001c0001t0047g0314others(1): Show | 4 | 362 | 0.0111 | -12 | c.71- others(27): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8754662 | ATTTATTT others(5): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG01167.hp2 HG01169.hp1 others(7): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0047a0001c0003t0003others(6): Show | a0001c0001t0001g0024a0001c0001t0047g0314a0001c0003t0003g0167others(7): Show | 10 | 362 | 0.0276 | -12 | c.317 others(29): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8772252 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG01074.hp2 HG01175.hp2 others(18): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0001others(9): Show | a0001c0001t0001g0218a0001c0001t0004g0117a0001c0003t0001g0240others(18): Show | 21 | 362 | 0.0580 | -12 | c.817 others(27): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8773105 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG02280.hp1 HG03195.hp2 HG03453.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0008 | a0002c0002t0001g0010a0002c0002t0001g0297a0002c0002t0001g0334others(1): Show | 4 | 362 | 0.0111 | -12 | c.954 others(27): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8789442 | TTAAAACA others(5): Show |
T | downstream_gene_variant | MODIFIER | NA19060.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0062 | 1 | 362 | 0.0028 | -12 | c.*80 others(23): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 4873 | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8789444 | AAAACAAA others(5): Show |
A | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00609.hp1 others(128): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0011others(9): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(30): Show | a0001c0001t0001g0038a0001c0001t0001g0058a0001c0001t0001g0059others(128): Show | 131 | 362 | 0.3619 | -12 | c.*80 others(23): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 4875 | chr16 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69143833 | GTAGATAG others(5): Show |
G | downstream_gene_variant | MODIFIER | HG01243.hp1 HG03098.hp1 NA18945.hp1 |
a0001a0010a0025 | a0001c0001a0010c0010a0025c0029 | a0001c0001t0002a0010c0010t0006a0025c0029t0014 | a0001c0001t0002g0295a0010c0010t0006g0194a0025c0029t0014g0197 | 3 | 348 | 0.0086 | -12 | c.*49 others(23): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 4173 | chr17 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69146322 | TATGGAAT others(5): Show |
T | downstream_gene_variant | MODIFIER | HG00639.hp1 HG01099.hp2 HG01109.hp2 others(23): Show |
a0005a0006 | a0005c0005a0006c0007a0006c0016 | a0005c0005t0004a0005c0005t0015a0006c0007t0004others(2): Show | a0005c0005t0004g0184a0005c0005t0004g0199a0005c0005t0004g0213others(23): Show | 26 | 348 | 0.0747 | -12 | c.*24 others(23): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 1684 | chr17 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69162808 | TATATACA others(5): Show |
T | intron_variant | MODIFIER | HG02922.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0018 | a0001c0001t0002g0165a0001c0001t0018g0342 | 2 | 348 | 0.0058 | -12 | c.336 others(31): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 27/38 | chr17 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69210170 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00609.hp2 HG00733.hp2 HG01070.hp1 others(35): Show |
a0004 | a0004c0004a0004c0006 | a0004c0004t0003a0004c0004t0011a0004c0006t0003others(1): Show | a0004c0004t0003g0005a0004c0004t0003g0007a0004c0004t0003g0074others(34): Show | 38 | 348 | 0.1092 | -12 | c.100 others(31): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 9/38 | chr17 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69211314 | GATATATA others(5): Show |
G | intron_variant | MODIFIER | HG02523.hp2 HG02572.hp1 |
a0001a0008 | a0001c0001a0008c0009 | a0001c0001t0002a0008c0009t0009 | a0001c0001t0002g0166a0008c0009t0009g0200 | 2 | 348 | 0.0058 | -12 | c.100 others(31): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 9/38 | chr17 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 214950382 | ATCTGTGT others(5): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG02647.hp1 HG02922.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0012a0002c0056 | a0001c0001t0013a0001c0012t0004a0001c0012t0014others(1): Show | a0001c0001t0013g0040a0001c0012t0004g0039a0001c0012t0004g0065others(3): Show | 6 | 198 | 0.0303 | -12 | c.685 others(29): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 45/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 214950384 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG02451.hp1 | a0003 | a0003c0020 | a0003c0020t0003 | a0003c0020t0003g0108 | 1 | 198 | 0.0051 | -12 | c.685 others(29): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 45/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215008231 | ATGTTAGA others(5): Show |
A | intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0055 | 1 | 198 | 0.0051 | -12 | c.247 others(29): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 18/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215051609 | AGTGTGTG others(5): Show |
A | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0025 | a0001c0025t0015 | a0001c0025t0015g0182 | 1 | 198 | 0.0051 | -12 | c.507 others(27): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 5/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215064688 | TACACGCA others(5): Show |
T | intron_variant | MODIFIER | NA18906.hp1 | a0004 | a0004c0061 | a0004c0061t0015 | a0004c0061t0015g0181 | 1 | 198 | 0.0051 | -12 | c.164 others(27): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215064693 | GCACACAC others(5): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00438.hp2 others(41): Show |
a0001a0002a0012others(2): Show | a0001c0001a0001c0002a0001c0004others(13): Show | a0001c0001t0002a0001c0001t0013a0001c0002t0001others(17): Show | a0001c0001t0002g0025a0001c0001t0002g0059a0001c0001t0002g0066others(41): Show | 44 | 198 | 0.2222 | -12 | c.164 others(27): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215081487 | AAAAAAGA others(5): Show |
A | intron_variant | MODIFIER | HG01975.hp2 HG02486.hp2 |
a0002 | a0002c0027 | a0002c0027t0003 | a0002c0027t0003g0073a0002c0027t0003g0074 | 2 | 198 | 0.0101 | -12 | c.164 others(31): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215086919 | TTTATTAT others(5): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp1 others(132): Show |
a0001a0002a0004others(12): Show | a0001c0001a0001c0002a0001c0003others(40): Show | a0001c0001t0002a0001c0001t0012a0001c0001t0020others(63): Show | a0001c0001t0002g0030a0001c0001t0002g0035a0001c0001t0002g0059others(132): Show | 135 | 198 | 0.6818 | -12 | c.164 others(31): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215134505 | CGTATGTA others(5): Show |
C | intron_variant | MODIFIER | HG02647.hp2 HG02896.hp1 HG03139.hp2 others(2): Show |
a0001a0002a0018 | a0001c0044a0002c0007a0002c0057others(1): Show | a0001c0044t0004a0002c0007t0006a0002c0057t0006others(1): Show | a0001c0044t0004g0067a0002c0007t0006g0175a0002c0007t0006g0176others(2): Show | 5 | 198 | 0.0253 | -12 | c.69+ others(27): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48172797 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01975.hp2 HG01993.hp1 HG02083.hp1 others(10): Show |
a0005a0009a0011others(9): Show | a0005c0005a0009c0012a0011c0044others(9): Show | a0005c0005t0003a0009c0012t0002a0011c0044t0001others(9): Show | a0005c0005t0003g0102a0005c0005t0003g0103a0009c0012t0002g0094others(10): Show | 13 | 178 | 0.0730 | -12 | c.69+ others(27): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 1/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48178975 | CTAATAAT others(5): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG01993.hp2 |
a0002a0010 | a0002c0065a0010c0033 | a0002c0065t0006a0010c0033t0003 | a0002c0065t0006g0128a0010c0033t0003g0060 | 2 | 178 | 0.0112 | -12 | c.69+ others(27): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 1/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48193652 | TGATGATG others(5): Show |
T | intron_variant | MODIFIER | HG02572.hp2 | a0080 | a0080c0090 | a0080c0090t0005 | a0080c0090t0005g0104 | 1 | 178 | 0.0056 | -12 | c.163 others(27): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 2/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48219883 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0065 | 1 | 178 | 0.0056 | -12 | c.439 others(27): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 4/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48290939 | GGAAAAAA others(5): Show |
G | intron_variant | MODIFIER | HG02723.hp2 | a0058 | a0058c0035 | a0058c0035t0002 | a0058c0035t0002g0157 | 1 | 178 | 0.0056 | -12 | c.895 others(31): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 20/61 | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48330030 | TATCCATC others(5): Show |
T | intron_variant | MODIFIER | HG02717.hp1 HG03540.hp1 NA19062.hp1 |
a0006a0044a0065 | a0006c0063a0044c0058a0065c0091 | a0006c0063t0001a0044c0058t0001a0065c0091t0001 | a0006c0063t0001g0010a0044c0058t0001g0101a0065c0091t0001g0109 | 3 | 178 | 0.0169 | -12 | c.100 others(33): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 27/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48330737 | ACATCCAT others(5): Show |
A | intron_variant | MODIFIER | HG02970.hp1 HG03098.hp2 |
a0014a0079 | a0014c0019a0079c0087 | a0014c0019t0002a0079c0087t0002 | a0014c0019t0002g0175a0079c0087t0002g0153 | 2 | 178 | 0.0112 | -12 | c.100 others(33): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 27/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48341918 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG02071.hp1 NA18987.hp2 |
a0019a0067 | a0019c0030a0067c0068 | a0019c0030t0003a0067c0068t0002 | a0019c0030t0003g0038a0019c0030t0003g0068a0067c0068t0002g0061 | 3 | 178 | 0.0169 | -12 | c.102 others(33): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 29/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48410977 | CTCTTTCT others(5): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01243.hp1 others(4): Show |
a0002a0008a0025others(2): Show | a0002c0002a0008c0013a0025c0085others(3): Show | a0002c0002t0002a0008c0013t0002a0025c0085t0004others(3): Show | a0002c0002t0002g0156a0002c0002t0002g0168a0008c0013t0002g0088others(4): Show | 7 | 178 | 0.0393 | -12 | c.122 others(31): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 40/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48411041 | TTCTTTCT others(5): Show |
T | intron_variant | MODIFIER | HG01516.hp2 | a0008 | a0008c0032 | a0008c0032t0001 | a0008c0032t0001g0079 | 1 | 178 | 0.0056 | -12 | c.122 others(31): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 40/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48422055 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG04204.hp1 NA18959.hp2 NA18987.hp1 |
a0001a0011a0023 | a0001c0001a0011c0017a0023c0018 | a0001c0001t0004a0011c0017t0002a0023c0018t0004 | a0001c0001t0004g0057a0011c0017t0002g0048a0023c0018t0004g0091 | 3 | 178 | 0.0169 | -12 | c.124 others(33): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 41/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48450978 | TTTTTTTC others(5): Show |
T | intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0106 | 1 | 178 | 0.0056 | -12 | c.125 others(33): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 42/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48558212 | ACTTTCTC others(5): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG02055.hp2 HG02109.hp2 others(5): Show |
a0001a0002a0004others(5): Show | a0001c0103a0002c0065a0004c0079others(5): Show | a0001c0103t0006a0002c0065t0006a0004c0079t0006others(5): Show | a0001c0103t0006g0059a0002c0065t0006g0128a0004c0079t0006g0147others(5): Show | 8 | 178 | 0.0449 | -12 | c.143 others(35): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48563794 | TTGTGTGT others(5): Show |
T | intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0106 | 1 | 178 | 0.0056 | -12 | c.143 others(35): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48633931 | CATAGATA others(5): Show |
C | intron_variant | MODIFIER | HG01123.hp2 HG01243.hp2 HG01516.hp2 others(21): Show |
a0001a0003a0004others(16): Show | a0001c0001a0003c0004a0004c0009others(17): Show | a0001c0001t0001a0003c0004t0001a0004c0009t0001others(19): Show | a0001c0001t0001g0063a0001c0001t0001g0064a0003c0004t0001g0033others(21): Show | 24 | 178 | 0.1348 | -12 | c.148 others(33): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 59/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA1_chr9_104776006_104933155 | 104799394 | TCACACAC others(5): Show |
T | intron_variant | MODIFIER | HG02965.hp1 HG03579.hp2 |
a0004a0008 | a0004c0112a0008c0047 | a0004c0112t0005a0008c0047t0002 | a0004c0112t0005g0098a0008c0047t0002g0244 | 2 | 318 | 0.0063 | -12 | c.494 others(29): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 36/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104829943 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG02280.hp1 HG03225.hp1 |
a0012a0032 | a0012c0105a0032c0104 | a0012c0105t0024a0032c0104t0005 | a0012c0105t0024g0217a0032c0104t0005g0168 | 2 | 318 | 0.0063 | -12 | c.189 others(29): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 14/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104862065 | CACACACA others(5): Show |
C | intron_variant | MODIFIER | HG03098.hp2 | a0002 | a0002c0046 | a0002c0046t0002 | a0002c0046t0002g0154 | 1 | 318 | 0.0031 | -12 | c.422 others(27): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104891966 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | NA20905.hp2 | a0010 | a0010c0030 | a0010c0030t0001 | a0010c0030t0001g0053 | 1 | 318 | 0.0031 | -12 | c.67- others(27): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 2/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104893421 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | NA19082.hp1 | a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0122 | 1 | 318 | 0.0031 | -12 | c.67- others(27): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 2/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104896711 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00621.hp2 HG01070.hp2 HG01168.hp1 others(18): Show |
a0001a0003a0004others(9): Show | a0001c0001a0003c0009a0004c0008others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(15): Show | a0001c0001t0001g0088a0001c0001t0003g0089a0001c0001t0006g0047others(18): Show | 21 | 318 | 0.0660 | -12 | c.66+ others(27): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 2/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104898549 | AAAATAAA others(5): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG01099.hp1 HG01106.hp1 others(22): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0005a0002c0011others(16): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(21): Show | a0001c0001t0001g0082a0001c0001t0003g0211a0001c0001t0004g0021others(22): Show | 25 | 318 | 0.0786 | -12 | c.66+ others(27): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 2/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104909607 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG02486.hp1 HG02723.hp2 |
a0002a0023 | a0002c0032a0023c0072 | a0002c0032t0001a0023c0072t0001 | a0002c0032t0001g0317a0023c0072t0001g0309 | 2 | 318 | 0.0063 | -12 | c.-92 others(29): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 1/49 | chr9 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2316490 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0209 | 1 | 252 | 0.0040 | -12 | c.111 others(29): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2343708 | CCTATCTA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(93): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0055a0001c0001t0001g0056a0001c0001t0001g0058others(92): Show | 96 | 252 | 0.3810 | -12 | c.-36 others(23): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 2981 | chr16 | TogoVar | ||||||
ABCA4_chr1_93987834_94126148 | 94014192 | AGAAAGAA others(5): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG01081.hp1 HG01243.hp1 others(23): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(10): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(11): Show | a0001c0001t0001g0087a0001c0001t0001g0196a0001c0001t0001g0256others(23): Show | 26 | 306 | 0.0850 | -12 | c.546 others(29): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 38/49 | chr1 | TogoVar |