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 | 214981955 | TTATTATT others(1): Show |
T | intron_variant | MODIFIER | HG01517.hp1 HG03490.hp2 HG03492.hp1 others(1): Show |
a0001a0003 | a0001c0011a0001c0031a0003c0065 | a0001c0011t0005a0001c0031t0005a0003c0065t0001 | a0001c0011t0005g0088 a0001c0011t0005g0089 a0001c0031t0005g0158 others(1): Show |
4 | 196 | 0.0204 | -8 | c.457 others(25): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 30/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214981958 | TTATTATT others(1): Show |
T | intron_variant | MODIFIER | HG01123.hp2 HG01243.hp2 HG01255.hp1 others(11): Show |
a0001a0002a0003others(2): Show | a0001c0009a0001c0010a0001c0011others(7): Show | a0001c0009t0003a0001c0010t0009a0001c0011t0001others(7): Show | a0001c0009t0003g0157 a0001c0010t0009g0001 a0001c0011t0001g0085 others(11): Show |
14 | 196 | 0.0714 | -8 | c.457 others(25): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 30/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214981961 | TTATTATT others(1): Show |
T | intron_variant | MODIFIER | HG01106.hp2 HG02055.hp1 HG02280.hp2 others(9): Show |
a0001a0002a0004others(1): Show | a0001c0005a0001c0009a0001c0010others(5): Show | a0001c0005t0001a0001c0009t0008a0001c0009t0010others(7): Show | a0001c0005t0001g0124 a0001c0009t0008g0188 a0001c0009t0008g0189 others(9): Show |
12 | 196 | 0.0612 | -8 | c.457 others(25): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 30/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214989187 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG02886.hp1 HG03579.hp2 |
a0002a0016 | a0002c0017a0016c0037 | a0002c0017t0009a0016c0037t0004 | a0002c0017t0009g0007 a0016c0037t0004g0023 |
2 | 26 | 0.0769 | -8 | c.382 others(25): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 26/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215051609 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02622.hp1 HG02647.hp1 others(3): Show |
a0002a0006 | a0002c0007a0002c0056a0002c0058others(1): Show | a0002c0007t0003a0002c0007t0004a0002c0056t0004others(2): Show | a0002c0007t0003g0017 a0002c0007t0003g0069 a0002c0007t0004g0149 others(3): Show |
6 | 8 | 0.7500 | -8 | c.507 others(23): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 5/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215064688 | TACACGCA others(1): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02572.hp2 HG02630.hp1 others(4): Show |
a0001a0004a0006others(2): Show | a0001c0012a0004c0060a0006c0062others(4): Show | a0001c0012t0004a0004c0060t0006a0006c0062t0004others(4): Show | a0001c0012t0004g0064 a0004c0060t0006g0080 a0006c0062t0004g0078 others(4): Show |
7 | 187 | 0.0374 | -8 | c.164 others(23): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215064693 | GCACACAC others(1): Show |
G | intron_variant | MODIFIER | HG02523.hp2 HG02572.hp1 HG02630.hp2 |
a0001a0002 | a0001c0006a0001c0010a0002c0007 | a0001c0006t0002a0001c0010t0003a0002c0007t0002 | a0001c0006t0002g0127 a0001c0010t0003g0143 a0002c0007t0002g0105 |
3 | 69 | 0.0435 | -8 | c.164 others(23): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215133149 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG02109.hp2 HG02280.hp1 others(5): Show |
a0001a0011a0017 | a0001c0005a0001c0010a0001c0044others(3): Show | a0001c0005t0003a0001c0005t0005a0001c0010t0004others(4): Show | a0001c0005t0003g0077 a0001c0005t0005g0075 a0001c0010t0004g0113 others(5): Show |
8 | 37 | 0.2162 | -8 | c.69+ others(23): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215134398 | GTGTATAT others(1): Show |
G | intron_variant | MODIFIER | HG02717.hp2 HG02895.hp1 HG02897.hp2 others(1): Show |
a0001a0002a0004 | a0001c0025a0002c0017a0004c0061 | a0001c0025t0015a0002c0017t0016a0004c0061t0015 | a0001c0025t0015g0182 a0002c0017t0016g0179 a0002c0017t0016g0180 others(1): Show |
4 | 196 | 0.0204 | -8 | c.69+ others(23): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215134577 | ATCTCTCT others(1): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02109.hp1 HG02258.hp2 others(4): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0033a0002c0013others(3): Show | a0001c0001t0012a0001c0033t0026a0002c0013t0008others(3): Show | a0001c0001t0012g0191 a0001c0001t0012g0192 a0001c0033t0026g0193 others(4): Show |
7 | 175 | 0.0400 | -8 | c.69+ others(23): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48172797 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG01070.hp2 HG02970.hp2 others(3): Show |
a0003a0064 | a0003c0003a0003c0004a0064c0105 | a0003c0003t0004a0003c0004t0001a0003c0004t0002others(1): Show | a0003c0003t0004g0034 a0003c0003t0004g0036 a0003c0004t0001g0033 others(3): Show |
6 | 11 | 0.5455 | -8 | c.69+ others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 1/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48180921 | GAAACAAA others(1): Show |
G | intron_variant | MODIFIER | HG00741.hp2 HG01975.hp2 HG01993.hp1 others(14): Show |
a0006a0008a0009others(10): Show | a0006c0005a0008c0013a0009c0044others(12): Show | a0006c0005t0003a0008c0013t0002a0009c0044t0001others(12): Show | a0006c0005t0003g0087 a0006c0005t0003g0093 a0006c0005t0003g0094 others(14): Show |
17 | 173 | 0.0983 | -8 | c.69+ others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 1/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48219883 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG01070.hp2 HG01192.hp2 others(10): Show |
a0001a0003a0011others(7): Show | a0001c0010a0003c0003a0003c0004others(8): Show | a0001c0010t0002a0003c0003t0004a0003c0004t0001others(8): Show | a0001c0010t0002g0075 a0003c0003t0004g0034 a0003c0003t0004g0036 others(10): Show |
13 | 46 | 0.2826 | -8 | c.439 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 4/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48225109 | GTGCCTGC others(1): Show |
G | intron_variant | MODIFIER | HG00738.hp1 HG01123.hp2 HG01516.hp1 others(2): Show |
a0009a0010a0011others(1): Show | a0009c0017a0010c0045a0011c0033others(1): Show | a0009c0017t0003a0010c0045t0002a0011c0033t0003others(1): Show | a0009c0017t0003g0068 a0010c0045t0002g0076 a0011c0033t0003g0060 others(2): Show |
5 | 84 | 0.0595 | -8 | c.469 others(25): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 5/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48225131 | GCCTGCCT others(1): Show |
G | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02280.hp2 others(4): Show |
a0002a0015a0025others(3): Show | a0002c0002a0015c0047a0025c0089others(3): Show | a0002c0002t0002a0015c0047t0001a0025c0089t0012others(3): Show | a0002c0002t0002g0156 a0002c0002t0002g0167 a0015c0047t0001g0155 others(4): Show |
7 | 171 | 0.0409 | -8 | c.469 others(25): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 5/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48225135 | GCCTTCCT others(1): Show |
G | intron_variant | MODIFIER | HG03654.hp1 NA20129.hp2 |
a0010a0086 | a0010c0016a0086c0037 | a0010c0016t0001a0086c0037t0005 | a0010c0016t0001g0088 a0086c0037t0005g0096 |
2 | 50 | 0.0400 | -8 | c.469 others(25): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 5/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48241252 | TCTGGATG others(1): Show |
T | intron_variant | MODIFIER | HG02723.hp2 HG06807.hp1 |
a0056a0074 | a0056c0035a0074c0036 | a0056c0035t0002a0074c0036t0007 | a0056c0035t0002g0157 a0074c0036t0007g0083 |
2 | 176 | 0.0114 | -8 | c.126 others(25): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 10/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48286486 | CCCTTCCT others(1): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG02258.hp1 others(4): Show |
a0023a0024a0043others(2): Show | a0023c0015a0024c0014a0043c0039others(2): Show | a0023c0015t0004a0024c0014t0005a0024c0014t0010others(3): Show | a0023c0015t0004g0173 a0023c0015t0004g0176 a0024c0014t0005g0119 others(4): Show |
7 | 52 | 0.1346 | -8 | c.883 others(27): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 19/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48289736 | TGACTCAA others(1): Show |
T | intron_variant | MODIFIER | HG02886.hp2 HG06807.hp2 |
a0058a0075 | a0058c0049a0075c0048 | a0058c0049t0001a0075c0048t0004 | a0058c0049t0001g0086 a0075c0048t0004g0159 |
2 | 176 | 0.0114 | -8 | c.895 others(27): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 20/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48330030 | TATCCATC others(1): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00735.hp2 others(70): Show |
a0001a0002a0003others(38): Show | a0001c0001a0001c0010a0001c0103others(46): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(53): Show | a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0050 others(70): Show |
73 | 105 | 0.6952 | -8 | c.100 others(29): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 27/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48330737 | ACATCCAT others(1): Show |
A | intron_variant | MODIFIER | HG02083.hp1 HG03041.hp1 HG03492.hp2 others(1): Show |
a0003a0008a0015others(1): Show | a0003c0004a0008c0013a0015c0019others(1): Show | a0003c0004t0001a0008c0013t0001a0015c0019t0002others(1): Show | a0003c0004t0001g0033 a0008c0013t0001g0110 a0015c0019t0002g0136 others(1): Show |
4 | 78 | 0.0513 | -8 | c.100 others(29): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 27/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48368687 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG02083.hp1 NA19083.hp1 |
a0005a0041 | a0005c0023a0041c0060 | a0005c0023t0003a0041c0060t0001 | a0005c0023t0003g0138 a0041c0060t0001g0091 |
2 | 49 | 0.0408 | -8 | c.108 others(27): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 32/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48410977 | CTCTTTCT others(1): Show |
C | intron_variant | MODIFIER | HG01074.hp1 HG02723.hp1 HG02809.hp1 others(6): Show |
a0001a0011a0020others(4): Show | a0001c0001a0011c0031a0020c0020others(4): Show | a0001c0001t0001a0001c0001t0006a0011c0031t0003others(5): Show | a0001c0001t0001g0042 a0001c0001t0001g0050 a0001c0001t0006g0178 others(6): Show |
9 | 94 | 0.0957 | -8 | c.122 others(27): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 40/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48558169 | CCCTCCCT others(1): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00741.hp1 HG01070.hp2 others(27): Show |
a0001a0002a0003others(18): Show | a0001c0001a0002c0002a0002c0022others(21): Show | a0001c0001t0004a0002c0002t0004a0002c0022t0004others(22): Show | a0001c0001t0004g0049 a0001c0001t0004g0164 a0002c0002t0004g0106 others(27): Show |
30 | 176 | 0.1705 | -8 | c.143 others(31): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48563794 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG02258.hp1 HG02572.hp2 others(10): Show |
a0020a0022a0024others(7): Show | a0020c0020a0022c0030a0024c0014others(7): Show | a0020c0020t0001a0020c0020t0005a0022c0030t0003others(9): Show | a0020c0020t0001g0007 a0020c0020t0005g0123 a0022c0030t0003g0038 others(10): Show |
13 | 24 | 0.5417 | -8 | c.143 others(31): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48599918 | ACAGCAAG others(1): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00558.hp1 others(129): Show |
a0001a0002a0003others(69): Show | a0001c0001a0001c0010a0001c0103others(89): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(102): Show | a0001c0001t0002g0058 a0001c0001t0002g0066 a0001c0001t0002g0085 others(129): Show |
132 | 176 | 0.7500 | -8 | c.147 others(29): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 58/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48624059 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG02572.hp2 HG02895.hp1 HG02897.hp2 |
a0026a0048a0060 | a0026c0027a0048c0090a0060c0111 | a0026c0027t0006a0048c0090t0005a0060c0111t0006 | a0026c0027t0006g0162 a0048c0090t0005g0104 a0060c0111t0006g0031 |
3 | 94 | 0.0319 | -8 | c.148 others(29): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 59/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48633931 | CATAGATA others(1): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG01192.hp1 HG01433.hp2 others(8): Show |
a0001a0002a0007others(6): Show | a0001c0001a0001c0104a0002c0002others(7): Show | a0001c0001t0001a0001c0104t0005a0002c0002t0001others(7): Show | a0001c0001t0001g0042 a0001c0001t0001g0050 a0001c0104t0005g0044 others(8): Show |
11 | 122 | 0.0902 | -8 | c.148 others(29): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 59/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104799394 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00609.hp1 HG01081.hp2 others(12): Show |
a0004a0005a0007others(2): Show | a0004c0008a0004c0113a0005c0070others(6): Show | a0004c0008t0003a0004c0113t0002a0005c0070t0001others(11): Show | a0004c0008t0003g0213 a0004c0113t0002g0205 a0005c0070t0001g0315 others(12): Show |
15 | 26 | 0.5769 | -8 | c.494 others(25): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 36/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104807845 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02257.hp1 HG02723.hp2 others(8): Show |
a0002a0004a0008 | a0002c0024a0002c0032a0004c0008others(4): Show | a0002c0024t0008a0002c0032t0001a0004c0008t0003others(4): Show | a0002c0024t0008g0004 a0002c0024t0008g0009 a0002c0024t0008g0110 others(8): Show |
11 | 82 | 0.1341 | -8 | c.427 others(27): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 30/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104810141 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02258.hp1 HG02895.hp2 others(9): Show |
a0002a0004a0005others(1): Show | a0002c0015a0002c0032a0002c0037others(5): Show | a0002c0015t0013a0002c0032t0001a0002c0037t0001others(7): Show | a0002c0015t0013g0001 a0002c0032t0001g0026 a0002c0037t0001g0189 others(8): Show |
12 | 181 | 0.0663 | -8 | c.417 others(25): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 29/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104829943 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01169.hp1 HG01515.hp2 HG01517.hp1 others(10): Show |
a0002a0007a0011others(2): Show | a0002c0017a0002c0024a0002c0025others(6): Show | a0002c0017t0002a0002c0024t0008a0002c0025t0007others(7): Show | a0002c0017t0002g0185 a0002c0024t0008g0004 a0002c0024t0008g0009 others(10): Show |
13 | 107 | 0.1215 | -8 | c.189 others(25): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 14/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104898549 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00558.hp1 others(70): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0035a0001c0092others(36): Show | a0001c0001t0006a0001c0001t0011a0001c0001t0012others(56): Show | a0001c0001t0006g0044 a0001c0001t0006g0051 a0001c0001t0006g0055 others(69): Show |
73 | 191 | 0.3822 | -8 | c.66+ others(23): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 2/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104909607 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01978.hp2 HG02155.hp2 HG02257.hp2 others(15): Show |
a0001a0002a0003others(8): Show | a0001c0001a0002c0011a0002c0017others(15): Show | a0001c0001t0001a0002c0011t0004a0002c0017t0026others(15): Show | a0001c0001t0001g0215 a0002c0011t0004g0177 a0002c0017t0026g0190 others(15): Show |
18 | 104 | 0.1731 | -8 | c.-92 others(25): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 1/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104932859 | TGCCTAAT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG02300.hp1 NA20805.hp1 |
a0001a0003a0025 | a0001c0001a0003c0009a0025c0103 | a0001c0001t0004a0003c0009t0003a0025c0103t0007 | a0001c0001t0004g0250 a0003c0009t0003g0265 a0025c0103t0007g0295 |
3 | 316 | 0.0095 | -8 | c.-50 others(19): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 4705 | chr9 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2289961 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG02698.hp2 HG03017.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0138 a0001c0002t0001g0141 a0001c0002t0001g0168 |
3 | 39 | 0.0769 | -8 | c.251 others(25): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 19/32 | chr16 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2336597 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG02280.hp1 HG02486.hp2 HG02622.hp1 others(8): Show |
a0001a0012 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0014others(4): Show | a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0004g0006 others(8): Show |
11 | 106 | 0.1038 | -8 | c.-53 others(27): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2343708 | CCTATCTA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(67): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(18): Show | a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0069 others(67): Show |
70 | 85 | 0.8235 | -8 | c.-36 others(19): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 2981 | chr16 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94091579 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp2 HG00738.hp2 others(26): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0009others(9): Show | a0001c0001t0001a0001c0004t0002a0001c0009t0001others(9): Show | a0001c0001t0001g0013 a0001c0001t0001g0060 a0001c0001t0001g0064 others(25): Show |
29 | 62 | 0.4677 | -8 | c.768 others(25): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 6/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94115682 | AAGCACAA others(1): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02257.hp1 HG02615.hp2 others(12): Show |
a0001a0003a0006others(5): Show | a0001c0004a0001c0006a0001c0007others(10): Show | a0001c0004t0001a0001c0006t0001a0001c0007t0001others(10): Show | a0001c0004t0001g0044 a0001c0006t0001g0033 a0001c0007t0001g0036 others(12): Show |
15 | 304 | 0.0493 | -8 | c.67- others(23): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 1/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94116968 | CTCTTTCT others(1): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp2 HG02027.hp2 others(3): Show |
a0003a0004a0007others(3): Show | a0003c0033a0004c0039a0007c0042others(3): Show | a0003c0033t0001a0004c0039t0001a0007c0042t0001others(3): Show | a0003c0033t0001g0183 a0004c0039t0001g0115 a0007c0042t0001g0109 others(3): Show |
6 | 146 | 0.0411 | -8 | c.67- others(23): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 1/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94124141 | CTTTTTTT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00621.hp2 others(70): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0003a0001c0004others(27): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(28): Show | a0001c0001t0001g0003 a0001c0001t0001g0134 a0001c0001t0001g0135 others(69): Show |
73 | 271 | 0.2694 | -8 | c.-31 others(19): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 2994 | chr1 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69288719 | GAAGAAAG others(1): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00609.hp1 HG00642.hp1 others(44): Show |
a0001a0003a0006 | a0001c0002a0003c0003a0006c0009 | a0001c0002t0013a0003c0003t0003a0003c0003t0015others(3): Show | a0001c0002t0013g0051 a0001c0002t0013g0085 a0003c0003t0003g0001 others(42): Show |
47 | 65 | 0.7231 | -8 | c.190 others(25): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 14/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69293865 | TGTGTGTG others(1): Show |
T | intron_variant | MODIFIER | HG01099.hp1 HG01109.hp1 HG01192.hp1 others(22): Show |
a0001a0002a0011 | a0001c0002a0001c0004a0001c0010others(3): Show | a0001c0002t0001a0001c0004t0017a0001c0010t0010others(5): Show | a0001c0002t0001g0094 a0001c0004t0017g0322 a0001c0010t0010g0331 others(22): Show |
25 | 348 | 0.0718 | -8 | c.149 others(25): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 11/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69298229 | TAGGAAGG others(1): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG01346.hp1 HG03209.hp2 |
a0001a0004 | a0001c0004a0001c0022a0004c0005 | a0001c0004t0003a0001c0022t0003a0004c0005t0003 | a0001c0004t0003g0165 a0001c0022t0003g0314 a0004c0005t0003g0211 |
3 | 200 | 0.0150 | -8 | c.126 others(25): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69298277 | AAGGAAGG others(1): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG03471.hp1 NA20129.hp1 |
a0001a0005 | a0001c0004a0005c0007 | a0001c0004t0017a0005c0007t0006 | a0001c0004t0017g0322 a0005c0007t0006g0339 a0005c0007t0006g0342 |
3 | 348 | 0.0086 | -8 | c.126 others(25): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69298281 | AAGGGAGG others(1): Show |
A | intron_variant | MODIFIER | HG02132.hp2 NA18994.hp2 NA18999.hp1 others(1): Show |
a0002a0014 | a0002c0001a0014c0023 | a0002c0001t0002a0014c0023t0002 | a0002c0001t0002g0212 a0002c0001t0002g0273 a0002c0001t0002g0284 others(1): Show |
4 | 329 | 0.0122 | -8 | c.126 others(25): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69298316 | GAGGAAGG others(1): Show |
G | intron_variant | MODIFIER | HG01346.hp1 HG01884.hp2 HG02922.hp2 |
a0001 | a0001c0004 | a0001c0004t0003a0001c0004t0008a0001c0004t0026 | a0001c0004t0003g0165 a0001c0004t0008g0166 a0001c0004t0026g0164 |
3 | 70 | 0.0429 | -8 | c.126 others(25): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69143833 | GTAGATAG others(1): Show |
G | upstream_gene_variant | MODIFIER | HG02523.hp2 HG03471.hp2 HG03834.hp2 others(3): Show |
a0002a0004a0005others(1): Show | a0002c0002a0002c0019a0004c0004others(2): Show | a0002c0002t0002a0002c0019t0002a0004c0004t0002others(2): Show | a0002c0002t0002g0205 a0002c0019t0002g0186 a0004c0004t0002g0141 others(2): Show |
6 | 75 | 0.0800 | -8 | c.-21 others(19): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 1939 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68904289 | AGAAATAA others(1): Show |
A | intron_variant | MODIFIER | HG01346.hp1 HG01346.hp2 HG01433.hp1 others(39): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(15): Show | a0001c0001t0001g0012 a0001c0001t0001g0037 a0001c0001t0001g0046 others(39): Show |
42 | 189 | 0.2222 | -8 | c.239 others(25): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 19/39 | chr17 | TogoVar |