view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
A4GALT_chr22_42687121_42725870 | 42703106 | C | CTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG02965.hp1 NA18906.hp1 |
a0001a0002 | a0001c0001a0002c0008 | a0001c0001t0025a0002c0008t0001 | a0001c0001t0025g0391 a0002c0008t0001g0112 |
2 | 13 | 0.1538 | 30 | c.-18 others(49): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | |||||||
AADACL4_chr1_12639085_12672076 | 12658166 | T | TTCTTTCT others(23): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0065 | 1 | 267 | 0.0037 | 30 | c.386 others(47): Show |
AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AAGAB_chr15_67195667_67259661 | 67222282 | A | ACACACAC others(23): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01928.hp1 HG01981.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0143 a0002c0002t0003g0161 a0002c0002t0003g0198 others(1): Show |
4 | 274 | 0.0146 | 30 | c.535 others(47): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | chr15 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69493158 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG03669.hp1 NA18983.hp1 |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0015 | a0002c0002t0003g0037 a0002c0002t0015g0002 |
2 | 71 | 0.0282 | 30 | c.236 others(49): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69500698 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0002 | a0002c0005 | a0002c0005t0036 | a0002c0005t0036g0006 | 1 | 96 | 0.0104 | 30 | c.227 others(49): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | chr2 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70293597 | A | ATTTTTTT others(23): Show |
upstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 90 | 0.0111 | 30 | c.-41 others(41): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4092 | chr16 | TogoVar | |||||||
AATF_chr17_36943954_37061871 | 37023490 | T | TATTCTTT others(23): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(61): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0023 others(61): Show |
64 | 131 | 0.4886 | 30 | c.154 others(49): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8710727 | A | AGAGAGAG others(23): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01168.hp1 others(4): Show |
a0001 | a0001c0001a0001c0011a0001c0013 | a0001c0001t0001a0001c0001t0039a0001c0011t0001others(2): Show | a0001c0001t0001g0104 a0001c0001t0001g0114 a0001c0001t0001g0267 others(4): Show |
7 | 108 | 0.0648 | 30 | c.-41 others(49): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8743423 | T | TTATATAT others(23): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0224 | 1 | 274 | 0.0036 | 30 | c.71- others(45): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8743423 | T | TTTTATAT others(23): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0237 | 1 | 274 | 0.0036 | 30 | c.71- others(45): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8743444 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0029 | 1 | 99 | 0.0101 | 30 | c.71- others(45): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8743444 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG02258.hp1 NA18960.hp1 |
a0002 | a0002c0002a0002c0009 | a0002c0002t0001a0002c0009t0002 | a0002c0002t0001g0163 a0002c0009t0002g0315 |
2 | 100 | 0.0200 | 30 | c.71- others(45): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8743444 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG02027.hp2 NA19002.hp1 |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0029 | a0002c0002t0003g0076 a0002c0002t0029g0201 |
2 | 100 | 0.0200 | 30 | c.71- others(45): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69146164 | A | AATATATA others(23): Show |
downstream_gene_variant | MODIFIER | HG02717.hp2 | a0007 | a0007c0008 | a0007c0008t0007 | a0007c0008t0007g0335 | 1 | 173 | 0.0058 | 30 | c.*26 others(41): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 1842 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69146239 | T | TATATATA others(23): Show |
downstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0076 | 1 | 343 | 0.0029 | 30 | c.*25 others(41): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 1767 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69162808 | T | TATATACA others(23): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0015 | a0015c0029 | a0015c0029t0014 | a0015c0029t0014g0198 | 1 | 328 | 0.0030 | 30 | c.336 others(49): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 27/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69162808 | T | TATATACA others(23): Show |
intron_variant | MODIFIER | HG03688.hp1 HG04115.hp2 |
a0019a0022 | a0019c0026a0022c0024 | a0019c0026t0001a0022c0024t0001 | a0019c0026t0001g0073 a0022c0024t0001g0302 |
2 | 329 | 0.0061 | 30 | c.336 others(49): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 27/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69162838 | C | CATATACA others(23): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02129.hp2 HG02451.hp2 others(10): Show |
a0002a0008 | a0002c0002a0008c0009 | a0002c0002t0001a0008c0009t0009 | a0002c0002t0001g0017 a0002c0002t0001g0022 a0002c0002t0001g0025 others(9): Show |
13 | 169 | 0.0769 | 30 | c.336 others(49): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 27/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69162838 | C | CATATACA others(23): Show |
intron_variant | MODIFIER | NA18956.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0018 | 1 | 157 | 0.0064 | 30 | c.336 others(49): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 27/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69210170 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0005 | a0005c0005 | a0005c0005t0004 | a0005c0005t0004g0216 | 1 | 176 | 0.0057 | 30 | c.100 others(49): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69210847 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01243.hp2 HG01891.hp2 others(2): Show |
a0004a0010 | a0004c0004a0004c0006a0010c0022 | a0004c0004t0003a0004c0006t0003a0010c0022t0012 | a0004c0004t0003g0240 a0004c0004t0003g0242 a0004c0004t0003g0255 others(2): Show |
5 | 248 | 0.0202 | 30 | c.100 others(49): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214989187 | C | CATACATA others(23): Show |
intron_variant | MODIFIER | HG02074.hp1 HG02523.hp1 NA19066.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0020 | a0001c0001t0002g0059 a0001c0001t0002g0116 a0001c0001t0020g0155 |
3 | 27 | 0.1111 | 30 | c.382 others(47): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 26/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214989187 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02630.hp1 HG02886.hp2 others(1): Show |
a0001a0006a0007others(1): Show | a0001c0002a0006c0062a0007c0019others(1): Show | a0001c0002t0001a0006c0062t0004a0007c0019t0001others(1): Show | a0001c0002t0001g0049 a0006c0062t0004g0078 a0007c0019t0001g0099 others(1): Show |
4 | 28 | 0.1429 | 30 | c.382 others(47): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 26/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215134470 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0022 | a0001c0022t0019 | a0001c0022t0019g0014 | 1 | 191 | 0.0052 | 30 | c.69+ others(45): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215134620 | G | GAGAGAGA others(23): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02109.hp1 HG02258.hp2 others(2): Show |
a0001a0003a0012 | a0001c0001a0001c0033a0003c0020others(1): Show | a0001c0001t0012a0001c0033t0026a0003c0020t0008others(1): Show | a0001c0001t0012g0191 a0001c0001t0012g0192 a0001c0033t0026g0193 others(2): Show |
5 | 156 | 0.0321 | 30 | c.69+ others(45): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48232139 | A | ATTTTTTT others(23): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0007 | a0007c0011 | a0007c0011t0003 | a0007c0011t0003g0055 | 1 | 3 | 0.3333 | 30 | c.764 others(47): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 7/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48411291 | C | CTTCTTTT others(23): Show |
intron_variant | MODIFIER | HG01975.hp2 HG03453.hp2 NA18959.hp1 others(1): Show |
a0010a0016a0068others(1): Show | a0010c0043a0016c0029a0068c0040others(1): Show | a0010c0043t0002a0016c0029t0004a0068c0040t0001others(1): Show | a0010c0043t0002g0102 a0016c0029t0004g0071 a0068c0040t0001g0009 others(1): Show |
4 | 84 | 0.0476 | 30 | c.122 others(49): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 40/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104862631 | T | TGCTGGGC others(23): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0005 | a0005c0014 | a0005c0014t0011 | a0005c0014t0011g0277 | 1 | 313 | 0.0032 | 30 | c.422 others(45): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 93998744 | T | TTTATTTT others(23): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03195.hp1 |
a0001 | a0001c0004a0001c0006 | a0001c0004t0001a0001c0006t0001 | a0001c0004t0001g0240 a0001c0006t0001g0033 |
2 | 236 | 0.0085 | 30 | c.648 others(47): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 47/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94003356 | T | TTCTCTTA others(23): Show |
intron_variant | MODIFIER | NA19089.hp1 | a0005 | a0005c0027 | a0005c0027t0002 | a0005c0027t0002g0020 | 1 | 304 | 0.0033 | 30 | c.614 others(49): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 44/49 | chr1 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69249627 | C | CATTACAA others(23): Show |
intron_variant | MODIFIER | NA19076.hp1 | a0015 | a0015c0019 | a0015c0019t0002 | a0015c0019t0002g0251 | 1 | 348 | 0.0029 | 30 | c.476 others(47): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 37/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69298314 | G | GGAAGGAA others(23): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02148.hp2 HG02165.hp2 others(9): Show |
a0002 | a0002c0001 | a0002c0001t0002a0002c0001t0009 | a0002c0001t0002g0239 a0002c0001t0002g0242 a0002c0001t0002g0243 others(9): Show |
12 | 248 | 0.0484 | 30 | c.126 others(47): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69303785 | A | AAAAAATA others(23): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01071.hp1 HG01099.hp2 others(9): Show |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0002 a0003c0003t0003g0018 a0003c0003t0003g0019 others(9): Show |
12 | 248 | 0.0484 | 30 | c.931 others(45): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69303785 | A | AAAAAATA others(23): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0020 | 1 | 237 | 0.0042 | 30 | c.931 others(45): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69303791 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG02965.hp1 NA19240.hp2 NA20300.hp1 |
a0006 | a0006c0009 | a0006c0009t0003a0006c0009t0028 | a0006c0009t0003g0218 a0006c0009t0003g0219 a0006c0009t0028g0221 |
3 | 300 | 0.0100 | 30 | c.930 others(45): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69303793 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG02559.hp2 HG03139.hp2 |
a0003 | a0003c0003 | a0003c0003t0003a0003c0003t0021 | a0003c0003t0003g0031 a0003c0003t0021g0030 |
2 | 296 | 0.0068 | 30 | c.930 others(45): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69303807 | T | TACACATA others(23): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0004 | a0001c0004t0017 | a0001c0004t0017g0322 | 1 | 232 | 0.0043 | 30 | c.930 others(45): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69303807 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG01258.hp2 others(10): Show |
a0001a0013 | a0001c0002a0001c0006a0013c0018 | a0001c0002t0001a0001c0006t0001a0013c0018t0001 | a0001c0002t0001g0077 a0001c0002t0001g0096 a0001c0002t0001g0097 others(10): Show |
13 | 244 | 0.0533 | 30 | c.930 others(45): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69303845 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0004 | a0004c0005 | a0004c0005t0029 | a0004c0005t0029g0206 | 1 | 203 | 0.0049 | 30 | c.930 others(45): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69086486 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0201 | 1 | 44 | 0.0227 | 30 | c.393 others(47): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 30/38 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69146164 | A | AATATATA others(23): Show |
upstream_gene_variant | MODIFIER | HG02717.hp1 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0008 | 1 | 169 | 0.0059 | 30 | c.-44 others(41): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 4270 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69146239 | T | TATATATA others(23): Show |
upstream_gene_variant | MODIFIER | HG06807.hp1 | a0021 | a0021c0027 | a0021c0027t0002 | a0021c0027t0002g0202 | 1 | 322 | 0.0031 | 30 | c.-45 others(41): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 4345 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68887911 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG02818.hp2 NA18986.hp1 NA18994.hp1 |
a0001a0003 | a0001c0001a0003c0026 | a0001c0001t0001a0003c0026t0001 | a0001c0001t0001g0028 a0001c0001t0001g0250 a0003c0026t0001g0114 |
3 | 90 | 0.0333 | 30 | c.314 others(47): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 24/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68935262 | T | TTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02895.hp1 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0148 a0001c0005t0001g0150 |
2 | 27 | 0.0741 | 30 | c.466 others(47): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 5/39 | chr17 | TogoVar | |||||||
ABCA9_chr17_68969488_69065927 | 68992861 | G | GTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02622.hp2 HG02818.hp2 others(9): Show |
a0001a0003 | a0001c0007a0003c0003 | a0001c0007t0004a0003c0003t0004a0003c0003t0013 | a0001c0007t0004g0091 a0003c0003t0004g0005 a0003c0003t0004g0006 others(7): Show |
12 | 310 | 0.0387 | 30 | c.362 others(47): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 27/38 | chr17 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975232 | T | TTTATATA others(23): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0066 | a0001c0066t0004 | a0001c0066t0004g0280 | 1 | 286 | 0.0035 | 30 | c.130 others(49): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975259 | A | ATAGATAA others(23): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02572.hp1 HG02922.hp2 others(5): Show |
a0002 | a0002c0003a0002c0008a0002c0010others(1): Show | a0002c0003t0001a0002c0008t0001a0002c0008t0032others(4): Show | a0002c0003t0001g0263 a0002c0008t0001g0284 a0002c0008t0001g0302 others(5): Show |
8 | 276 | 0.0290 | 30 | c.130 others(49): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975305 | A | ATAGATAA others(23): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG00621.hp2 others(27): Show |
a0001a0002a0014 | a0001c0005a0001c0006a0001c0007others(11): Show | a0001c0005t0001a0001c0005t0010a0001c0005t0030others(18): Show | a0001c0005t0001g0200 a0001c0005t0001g0209 a0001c0005t0001g0219 others(27): Show |
30 | 189 | 0.1587 | 30 | c.130 others(49): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975400 | T | TATAAATA others(23): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0028 | a0002c0028t0001 | a0002c0028t0001g0300 | 1 | 293 | 0.0034 | 30 | c.130 others(49): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975564 | T | TATATTTA others(23): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01256.hp1 HG02004.hp1 others(2): Show |
a0001a0008 | a0001c0001a0001c0002a0008c0059 | a0001c0001t0001a0001c0002t0003a0001c0002t0015others(1): Show | a0001c0001t0001g0083 a0001c0001t0001g0166 a0001c0002t0003g0095 others(2): Show |
5 | 158 | 0.0316 | 30 | c.130 others(49): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar |