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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCA12_chr2_214926542_215143626 | 215051609 | A | AGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00735.hp2 HG01071.hp2 others(22): Show |
a0001a0017 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0024others(7): Show | a0001c0001t0002g0032 a0001c0001t0002g0116 a0001c0001t0002g0117 others(22): Show |
25 | 27 | 0.9259 | 10 | c.507 others(25): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 5/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215071196 | C | CAAATAAA others(3): Show |
intron_variant | MODIFIER | HG00423.hp1 HG02071.hp1 |
a0001a0010 | a0001c0002a0010c0046 | a0001c0002t0001a0010c0046t0002 | a0001c0002t0001g0156 a0010c0046t0002g0162 |
2 | 39 | 0.0513 | 10 | c.164 others(27): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215087487 | C | CGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0003 | a0003c0014 | a0003c0014t0006 | a0003c0014t0006g0102 | 1 | 14 | 0.0714 | 10 | c.164 others(29): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215119752 | A | AAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02559.hp1 HG02818.hp2 others(11): Show |
a0001a0002a0004 | a0001c0010a0001c0015a0001c0068others(6): Show | a0001c0010t0009a0001c0015t0007a0001c0015t0009others(8): Show | a0001c0010t0009g0001 a0001c0015t0007g0009 a0001c0015t0009g0006 others(11): Show |
14 | 190 | 0.0737 | 10 | c.70- others(25): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48201434 | C | CTTCCCAT others(3): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00738.hp2 HG01074.hp1 others(21): Show |
a0001a0002a0004others(14): Show | a0001c0001a0002c0002a0002c0022others(17): Show | a0001c0001t0004a0002c0002t0002a0002c0022t0004others(20): Show | a0001c0001t0004g0164 a0002c0002t0002g0156 a0002c0002t0002g0167 others(21): Show |
24 | 176 | 0.1364 | 10 | c.287 others(27): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 3/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48232139 | A | ATTTTTTT others(3): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00738.hp2 HG01167.hp2 others(18): Show |
a0001a0002a0004others(13): Show | a0001c0001a0002c0022a0004c0008others(15): Show | a0001c0001t0001a0002c0022t0004a0004c0008t0001others(17): Show | a0001c0001t0001g0004 a0002c0022t0004g0163 a0004c0008t0001g0148 others(18): Show |
21 | 23 | 0.9130 | 10 | c.764 others(27): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 7/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48309033 | G | GCACACAC others(3): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01074.hp2 HG01167.hp2 others(26): Show |
a0001a0008a0011others(12): Show | a0001c0001a0001c0010a0001c0104others(18): Show | a0001c0001t0001a0001c0010t0001a0001c0104t0005others(20): Show | a0001c0001t0001g0027 a0001c0001t0001g0082 a0001c0001t0001g0177 others(26): Show |
29 | 41 | 0.7073 | 10 | c.932 others(27): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 23/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48358222 | A | AAGGGGAG others(3): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01167.hp2 HG01952.hp2 others(20): Show |
a0002a0005a0006others(9): Show | a0002c0022a0005c0007a0006c0005others(12): Show | a0002c0022t0004a0005c0007t0003a0006c0005t0003others(13): Show | a0002c0022t0004g0163 a0005c0007t0003g0121 a0006c0005t0003g0087 others(20): Show |
23 | 120 | 0.1917 | 10 | c.106 others(31): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 31/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48401744 | A | AACACACA others(3): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02922.hp2 |
a0043a0061 | a0043c0039a0061c0098 | a0043c0039t0001a0061c0098t0001 | a0043c0039t0001g0003 a0061c0098t0001g0070 |
2 | 77 | 0.0260 | 10 | c.118 others(31): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 38/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48410093 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02055.hp2 HG02258.hp2 others(3): Show |
a0004a0040a0045others(3): Show | a0004c0008a0040c0064a0045c0041others(3): Show | a0004c0008t0001a0040c0064t0001a0045c0041t0004others(3): Show | a0004c0008t0001g0148 a0040c0064t0001g0127 a0045c0041t0004g0039 others(3): Show |
6 | 112 | 0.0536 | 10 | c.120 others(29): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 39/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48410977 | C | CTCTCTTT others(3): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0058 | a0058c0049 | a0058c0049t0001 | a0058c0049t0001g0086 | 1 | 86 | 0.0116 | 10 | c.122 others(29): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 40/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48411049 | T | TTCTTTCT others(3): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0024 | a0024c0014 | a0024c0014t0005 | a0024c0014t0005g0119 | 1 | 172 | 0.0058 | 10 | c.122 others(29): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 40/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48411050 | T | TCTTTCTT others(3): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02895.hp2 HG02897.hp1 others(2): Show |
a0006a0026a0059others(1): Show | a0006c0024a0026c0027a0059c0059others(1): Show | a0006c0024t0003a0026c0027t0001a0026c0027t0006others(2): Show | a0006c0024t0003g0107 a0026c0027t0001g0161 a0026c0027t0006g0162 others(2): Show |
5 | 141 | 0.0355 | 10 | c.122 others(29): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 40/61 | chr7 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48411291 | C | CTTCTTTT others(3): Show |
intron_variant | MODIFIER | HG03834.hp1 NA18956.hp2 NA19091.hp1 |
a0004a0028 | a0004c0008a0028c0028 | a0004c0008t0005a0028c0028t0003 | a0004c0008t0005g0168 a0028c0028t0003g0005 a0028c0028t0003g0011 |
3 | 83 | 0.0361 | 10 | c.122 others(29): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 40/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48478310 | T | TATATATA others(3): Show |
intron_variant | MODIFIER | HG01433.hp1 HG01975.hp1 HG01993.hp2 others(13): Show |
a0006a0009a0011others(10): Show | a0006c0005a0009c0044a0011c0033others(10): Show | a0006c0005t0003a0009c0044t0001a0011c0033t0003others(10): Show | a0006c0005t0003g0132 a0009c0044t0001g0100 a0011c0033t0003g0060 others(13): Show |
16 | 148 | 0.1081 | 10 | c.129 others(31): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 45/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48521061 | G | GCATGCAC others(3): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00738.hp1 others(92): Show |
a0001a0002a0003others(57): Show | a0001c0001a0002c0002a0002c0022others(65): Show | a0001c0001t0002a0001c0001t0004a0002c0002t0004others(72): Show | a0001c0001t0002g0066 a0001c0001t0004g0049 a0001c0001t0004g0164 others(92): Show |
95 | 176 | 0.5398 | 10 | c.140 others(29): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 53/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48521068 | C | CACACATG others(3): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02055.hp1 HG02055.hp2 others(20): Show |
a0001a0002a0004others(16): Show | a0001c0103a0002c0065a0004c0079others(16): Show | a0001c0103t0006a0002c0065t0006a0004c0079t0006others(18): Show | a0001c0103t0006g0059 a0002c0065t0006g0128 a0004c0079t0006g0147 others(20): Show |
23 | 176 | 0.1307 | 10 | c.140 others(29): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 53/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48550265 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0034 | 1 | 141 | 0.0071 | 10 | c.143 others(33): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48563832 | G | GTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0040 | a0040c0064 | a0040c0064t0001 | a0040c0064t0001g0127 | 1 | 95 | 0.0105 | 10 | c.143 others(33): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48637381 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0072 | a0072c0074 | a0072c0074t0001 | a0072c0074t0001g0022 | 1 | 53 | 0.0189 | 10 | c.148 others(31): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 59/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104799394 | T | TCACACAC others(3): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01175.hp1 HG01243.hp2 others(23): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0035a0002c0017others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0264 a0001c0001t0001g0293 a0001c0001t0002g0288 others(23): Show |
26 | 37 | 0.7027 | 10 | c.494 others(27): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 36/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104862659 | C | CCCCACCC others(3): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0002 | a0002c0015 | a0002c0015t0031 | a0002c0015t0031g0085 | 1 | 261 | 0.0038 | 10 | c.422 others(25): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104862679 | C | CCCCACCC others(3): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0317 | 1 | 277 | 0.0036 | 10 | c.422 others(25): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104865515 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01884.hp2 HG02280.hp1 others(6): Show |
a0001a0002a0004others(5): Show | a0001c0035a0002c0017a0002c0032others(6): Show | a0001c0035t0004a0002c0017t0026a0002c0032t0001others(6): Show | a0001c0035t0004g0012 a0002c0017t0026g0209 a0002c0032t0001g0316 others(6): Show |
9 | 292 | 0.0308 | 10 | c.422 others(27): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104882028 | T | TAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0027 | a0027c0072 | a0027c0072t0001 | a0027c0072t0001g0310 | 1 | 21 | 0.0476 | 10 | c.421 others(27): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104888058 | G | GGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0003 | a0003c0002 | a0003c0002t0050 | a0003c0002t0050g0069 | 1 | 181 | 0.0055 | 10 | c.160 others(27): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 3/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104909654 | A | ACACACAC others(3): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0002 | a0002c0046 | a0002c0046t0002 | a0002c0046t0002g0157 | 1 | 143 | 0.0070 | 10 | c.-92 others(27): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 1/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104925375 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(54): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0005a0001c0035others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(40): Show | a0001c0001t0001g0056 a0001c0001t0001g0083 a0001c0001t0002g0075 others(54): Show |
57 | 302 | 0.1887 | 10 | c.-93 others(27): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 1/49 | chr9 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2289961 | T | TCACACAC others(3): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0199 | 1 | 37 | 0.0270 | 10 | c.251 others(27): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 19/32 | chr16 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 93998713 | A | ATTTATTT others(3): Show |
intron_variant | MODIFIER | HG02148.hp1 HG02280.hp2 HG03130.hp1 others(1): Show |
a0003a0004 | a0003c0061a0003c0072a0004c0039others(1): Show | a0003c0061t0001a0003c0072t0001a0004c0039t0001others(1): Show | a0003c0061t0001g0029 a0003c0072t0001g0039 a0004c0039t0001g0115 others(1): Show |
4 | 216 | 0.0185 | 10 | c.648 others(27): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 47/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 93998744 | T | TTTATTTT others(3): Show |
intron_variant | MODIFIER | HG02559.hp1 HG03225.hp2 |
a0001a0034 | a0001c0004a0034c0092 | a0001c0004t0001a0034c0092t0004 | a0001c0004t0001g0234 a0034c0092t0004g0165 |
2 | 236 | 0.0085 | 10 | c.648 others(27): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 47/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 93998749 | T | TTTATTTT others(3): Show |
intron_variant | MODIFIER | HG02922.hp1 NA18522.hp2 |
a0005 | a0005c0026 | a0005c0026t0001 | a0005c0026t0001g0298 a0005c0026t0001g0299 |
2 | 302 | 0.0066 | 10 | c.648 others(27): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 47/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94028930 | A | AAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0004 | a0004c0039 | a0004c0039t0001 | a0004c0039t0001g0115 | 1 | 166 | 0.0060 | 10 | c.453 others(27): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 30/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94090667 | T | TTAAGCAT others(3): Show |
intron_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0074 | 1 | 304 | 0.0033 | 10 | c.769 others(27): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 6/49 | chr1 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69274839 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG00738.hp2 HG02055.hp1 HG02145.hp1 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0005a0001c0004t0014a0001c0004t0027 | a0001c0004t0005g0326 a0001c0004t0005g0329 a0001c0004t0014g0320 others(2): Show |
5 | 24 | 0.2083 | 10 | c.259 others(27): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 19/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69293833 | G | GGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01433.hp1 HG02257.hp1 |
a0001a0003 | a0001c0002a0003c0003 | a0001c0002t0001a0003c0003t0003 | a0001c0002t0001g0044 a0003c0003t0003g0008 a0003c0003t0003g0009 |
3 | 251 | 0.0120 | 10 | c.149 others(27): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 11/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69298292 | G | GAAGGAAG others(3): Show |
intron_variant | MODIFIER | NA19089.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0267 | 1 | 348 | 0.0029 | 10 | c.126 others(27): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69298314 | G | GGAAGGAA others(3): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02523.hp2 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0002 | a0001c0002t0001g0068 a0002c0001t0002g0014 |
2 | 238 | 0.0084 | 10 | c.126 others(27): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69299471 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00738.hp1 HG02109.hp2 others(11): Show |
a0001a0002 | a0001c0002a0001c0006a0002c0001 | a0001c0002t0001a0001c0002t0020a0001c0006t0007others(1): Show | a0001c0002t0001g0045 a0001c0002t0001g0065 a0001c0002t0001g0066 others(11): Show |
14 | 85 | 0.1647 | 10 | c.126 others(29): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69303759 | T | TAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG02738.hp1 others(4): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0001c0002t0020a0002c0001t0002 | a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 others(4): Show |
7 | 161 | 0.0435 | 10 | c.931 others(25): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69303819 | T | TATACACA others(3): Show |
intron_variant | MODIFIER | HG02723.hp1 HG02896.hp1 |
a0001 | a0001c0010 | a0001c0010t0010 | a0001c0010t0010g0332 a0001c0010t0010g0333 |
2 | 347 | 0.0058 | 10 | c.930 others(25): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69303823 | T | TATATACA others(3): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0002 | a0002c0001 | a0002c0001t0004 | a0002c0001t0004g0316 | 1 | 291 | 0.0034 | 10 | c.930 others(25): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69303861 | T | TATACACA others(3): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0257 | 1 | 218 | 0.0046 | 10 | c.930 others(25): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69327145 | G | GCCGCGCG others(3): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG00609.hp1 HG00642.hp1 others(42): Show |
a0001a0003a0006 | a0001c0002a0003c0003a0006c0009 | a0001c0002t0001a0003c0003t0003a0003c0003t0015others(3): Show | a0001c0002t0001g0119 a0003c0003t0003g0001 a0003c0003t0003g0002 others(40): Show |
45 | 347 | 0.1297 | 10 | c.-11 others(19): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 13 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69086486 | A | AATATATA others(3): Show |
intron_variant | MODIFIER | HG02622.hp2 HG06807.hp1 NA19054.hp2 others(1): Show |
a0002a0016a0021others(1): Show | a0002c0002a0016c0018a0021c0027others(1): Show | a0002c0002t0002a0016c0018t0002a0021c0027t0002others(1): Show | a0002c0002t0002g0248 a0016c0018t0002g0060 a0021c0027t0002g0202 others(1): Show |
4 | 47 | 0.0851 | 10 | c.393 others(27): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 30/38 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69091523 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0013 | a0013c0016 | a0013c0016t0001 | a0013c0016t0001g0159 | 1 | 316 | 0.0032 | 10 | c.340 others(27): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 25/38 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69103911 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01069.hp2 HG01109.hp1 others(27): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(5): Show | a0001c0001t0001a0002c0002t0002a0003c0003t0001others(5): Show | a0001c0001t0001g0084 a0001c0001t0001g0103 a0002c0002t0002g0026 others(22): Show |
30 | 72 | 0.4167 | 10 | c.274 others(27): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 20/38 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69134888 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01943.hp2 HG02055.hp2 others(20): Show |
a0001a0003a0004others(4): Show | a0001c0001a0003c0003a0004c0004others(4): Show | a0001c0001t0001a0003c0003t0001a0004c0004t0002others(4): Show | a0001c0001t0001g0111 a0003c0003t0001g0012 a0003c0003t0001g0030 others(16): Show |
23 | 37 | 0.6216 | 10 | c.461 others(25): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 4/38 | chr17 | TogoVar | |||||||
ABCA7_chr19_1035107_1070572 | 1048496 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02970.hp1 |
a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0002 a0004c0005t0002g0003 |
2 | 24 | 0.0833 | 10 | c.227 others(27): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 16/46 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ABCA7_chr19_1035107_1070572 | 1060207 | A | ATATATAT others(3): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0003 | 1 | 22 | 0.0455 | 10 | c.546 others(29): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 40/46 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |