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 | 215105599 | A | ACACACG | intron_variant | MODIFIER | HG02280.hp1 HG02717.hp1 HG03486.hp1 |
a0001 | a0001c0005a0001c0051 | a0001c0005t0003a0001c0005t0005a0001c0051t0004 | a0001c0005t0003g0077 a0001c0005t0005g0075 a0001c0051t0004g0076 |
3 | 195 | 0.0154 | 6 | c.163 others(23): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215134422 | A | ATATGCG | intron_variant | MODIFIER | HG02647.hp2 HG02896.hp1 HG03139.hp2 others(2): Show |
a0001a0002a0017 | a0001c0045a0002c0007a0002c0057others(1): Show | a0001c0045t0004a0002c0007t0006a0002c0057t0006others(1): Show | a0001c0045t0004g0067 a0002c0007t0006g0175 a0002c0007t0006g0176 others(2): Show |
5 | 196 | 0.0255 | 6 | c.69+ others(21): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215142949 | T | TTTTTTG | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00741.hp2 HG01123.hp2 others(64): Show |
a0001a0002a0003others(6): Show | a0001c0004a0001c0005a0001c0010others(32): Show | a0001c0004t0001a0001c0005t0003a0001c0005t0005others(43): Show | a0001c0004t0001g0091 a0001c0004t0001g0092 a0001c0005t0003g0077 others(64): Show |
67 | 196 | 0.3418 | 6 | c.-47 others(17): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 4324 | chr2 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48178975 | C | CCAATAA | intron_variant | MODIFIER | NA18986.hp1 NA18991.hp1 |
a0001a0006 | a0001c0001a0006c0005 | a0001c0001t0001a0006c0005t0003 | a0001c0001t0001g0050 a0006c0005t0003g0094 |
2 | 66 | 0.0303 | 6 | c.69+ others(21): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 1/61 | chr7 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48187017 | G | GTATATA | intron_variant | MODIFIER | HG03041.hp1 HG03098.hp2 |
a0015 | a0015c0019 | a0015c0019t0002 | a0015c0019t0002g0136 a0015c0019t0002g0175 |
2 | 112 | 0.0179 | 6 | c.70- others(21): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 1/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48187019 | G | GTATATA | intron_variant | MODIFIER | HG02622.hp2 HG02886.hp1 HG03834.hp1 |
a0001a0004a0007 | a0001c0001a0004c0008a0007c0011 | a0001c0001t0004a0004c0008t0005a0007c0011t0007 | a0001c0001t0004g0164 a0004c0008t0005g0168 a0007c0011t0007g0165 |
3 | 84 | 0.0357 | 6 | c.70- others(21): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 1/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48189360 | G | GGGTGAT | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00558.hp2 others(65): Show |
a0001a0002a0004others(40): Show | a0001c0001a0002c0002a0002c0022others(49): Show | a0001c0001t0001a0001c0001t0006a0002c0002t0001others(55): Show | a0001c0001t0001g0133 a0001c0001t0006g0178 a0002c0002t0001g0131 others(65): Show |
68 | 176 | 0.3864 | 6 | c.70- others(21): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 1/61 | chr7 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48219883 | A | AACACAC | intron_variant | MODIFIER | HG00544.hp2 HG01192.hp1 HG01993.hp1 others(1): Show |
a0007a0032a0039 | a0007c0011a0007c0101a0032c0051others(1): Show | a0007c0011t0003a0007c0101t0003a0032c0051t0001others(1): Show | a0007c0011t0003g0130 a0007c0101t0003g0141 a0032c0051t0001g0026 others(1): Show |
4 | 37 | 0.1081 | 6 | c.439 others(21): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 4/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48231656 | C | CTATTAT | intron_variant | MODIFIER | HG00544.hp2 HG00738.hp1 HG00741.hp1 others(30): Show |
a0003a0009a0010others(14): Show | a0003c0003a0003c0004a0009c0017others(20): Show | a0003c0003t0004a0003c0004t0001a0003c0004t0002others(23): Show | a0003c0003t0004g0028 a0003c0003t0004g0029 a0003c0003t0004g0034 others(30): Show |
33 | 171 | 0.1930 | 6 | c.763 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 7/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48232139 | A | ATTTTTT | intron_variant | MODIFIER | HG00408.hp2 NA18991.hp1 NA18998.hp1 others(2): Show |
a0002a0006a0082 | a0002c0022a0006c0005a0082c0062 | a0002c0022t0002a0006c0005t0003a0082c0062t0003 | a0002c0022t0002g0124 a0006c0005t0003g0087 a0006c0005t0003g0093 others(2): Show |
5 | 7 | 0.7143 | 6 | c.764 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 7/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48278070 | G | GTATATA | splice_region_variant others(1): Show |
LOW | HG02723.hp2 HG06807.hp1 |
a0056a0074 | a0056c0035a0074c0036 | a0056c0035t0002a0074c0036t0007 | a0056c0035t0002g0157 a0074c0036t0007g0083 |
2 | 161 | 0.0124 | 6 | c.690 others(20): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 17/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48309033 | G | GCACACA | intron_variant | MODIFIER | HG02109.hp2 HG02132.hp2 HG02145.hp2 others(9): Show |
a0001a0004a0007others(5): Show | a0001c0001a0004c0009a0007c0011others(5): Show | a0001c0001t0001a0001c0001t0004a0004c0009t0001others(8): Show | a0001c0001t0001g0064 a0001c0001t0004g0164 a0004c0009t0001g0115 others(9): Show |
12 | 24 | 0.5000 | 6 | c.932 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 23/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48368687 | G | GTATATA | intron_variant | MODIFIER | HG02965.hp2 NA19043.hp2 |
a0014a0062 | a0014c0076a0062c0088 | a0014c0076t0001a0062c0088t0005 | a0014c0076t0001g0021 a0062c0088t0005g0152 |
2 | 49 | 0.0408 | 6 | c.108 others(25): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 32/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48401744 | A | AACACAC | intron_variant | MODIFIER | HG02897.hp2 NA18906.hp1 NA20300.hp2 |
a0060a0076a0087 | a0060c0111a0076c0110a0087c0075 | a0060c0111t0006a0076c0110t0007a0087c0075t0005 | a0060c0111t0006g0031 a0076c0110t0007g0126 a0087c0075t0005g0023 |
3 | 78 | 0.0385 | 6 | c.118 others(27): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 38/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48411050 | T | TCTTTCC | intron_variant | MODIFIER | HG00408.hp2 HG00741.hp1 |
a0002a0003 | a0002c0022a0003c0003 | a0002c0022t0002a0003c0003t0004 | a0002c0022t0002g0124 a0003c0003t0004g0036 |
2 | 138 | 0.0145 | 6 | c.122 others(25): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 40/61 | chr7 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48425722 | T | TGTCTTA | intron_variant | MODIFIER | HG02572.hp1 HG02895.hp1 HG02897.hp1 others(1): Show |
a0010a0026a0047 | a0010c0016a0026c0027a0047c0066 | a0010c0016t0001a0026c0027t0001a0026c0027t0006others(1): Show | a0010c0016t0001g0088 a0026c0027t0001g0161 a0026c0027t0006g0162 others(1): Show |
4 | 176 | 0.0227 | 6 | c.124 others(27): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 41/61 | chr7 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48431342 | A | AAACAAC | intron_variant | MODIFIER | HG00741.hp2 HG01167.hp2 HG01192.hp1 others(14): Show |
a0004a0005a0007others(11): Show | a0004c0009a0005c0023a0007c0011others(11): Show | a0004c0009t0001a0005c0023t0003a0007c0011t0003others(11): Show | a0004c0009t0001g0115 a0005c0023t0003g0171 a0007c0011t0003g0055 others(14): Show |
17 | 48 | 0.3542 | 6 | c.125 others(27): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 42/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48478293 | T | TTATATA | intron_variant | MODIFIER | HG00544.hp1 HG00735.hp2 HG01123.hp2 others(20): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0010a0002c0065others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0010t0001others(16): Show | a0001c0001t0001g0042 a0001c0001t0001g0050 a0001c0001t0001g0063 others(20): Show |
23 | 175 | 0.1314 | 6 | c.129 others(27): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 45/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48554822 | T | TTTATTA | intron_variant | MODIFIER | HG02055.hp1 HG02572.hp1 HG02717.hp1 others(9): Show |
a0005a0007a0013others(6): Show | a0005c0063a0007c0102a0013c0006others(6): Show | a0005c0063t0001a0007c0102t0001a0013c0006t0001others(7): Show | a0005c0063t0001g0010 a0007c0102t0001g0020 a0013c0006t0001g0002 others(9): Show |
12 | 129 | 0.0930 | 6 | c.143 others(29): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48624059 | A | AGTGTGT | intron_variant | MODIFIER | HG02723.hp2 HG03453.hp2 HG03486.hp1 |
a0056a0068a0069 | a0056c0035a0068c0040a0069c0086 | a0056c0035t0002a0068c0040t0001a0069c0086t0009 | a0056c0035t0002g0157 a0068c0040t0001g0009 a0069c0086t0009g0160 |
3 | 94 | 0.0319 | 6 | c.148 others(27): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 59/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104799394 | T | TCACACA | intron_variant | MODIFIER | HG00642.hp2 HG01169.hp2 HG01515.hp1 others(19): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0024a0002c0032others(11): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0012others(14): Show | a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0260 others(19): Show |
22 | 33 | 0.6667 | 6 | c.494 others(23): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 36/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104801116 | T | TAAAAAA | intron_variant | MODIFIER | HG01884.hp2 HG01952.hp2 HG02257.hp2 others(5): Show |
a0002a0004a0005others(1): Show | a0002c0017a0002c0074a0004c0107others(3): Show | a0002c0017t0002a0002c0017t0026a0002c0074t0027others(4): Show | a0002c0017t0002g0185 a0002c0017t0026g0190 a0002c0017t0026g0209 others(5): Show |
8 | 9 | 0.8889 | 6 | c.469 others(23): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 34/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104807843 | T | TACACAC | intron_variant | MODIFIER | HG01081.hp2 HG02055.hp2 HG02809.hp1 others(4): Show |
a0004a0005a0008others(2): Show | a0004c0113a0005c0036a0005c0052others(4): Show | a0004c0113t0002a0005c0036t0001a0005c0052t0001others(4): Show | a0004c0113t0002g0205 a0005c0036t0001g0092 a0005c0052t0001g0195 others(4): Show |
7 | 313 | 0.0224 | 6 | c.427 others(25): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 30/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104810141 | C | CATATAT | intron_variant | MODIFIER | HG02056.hp2 HG02300.hp1 HG02723.hp1 others(2): Show |
a0002a0003a0014others(2): Show | a0002c0015a0003c0076a0014c0053others(2): Show | a0002c0015t0031a0003c0076t0002a0014c0053t0002others(2): Show | a0002c0015t0031g0085 a0003c0076t0002g0131 a0014c0053t0002g0149 others(2): Show |
5 | 174 | 0.0287 | 6 | c.417 others(23): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 29/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104829943 | T | TACACAC | intron_variant | MODIFIER | HG02622.hp2 HG02809.hp1 HG03579.hp2 others(1): Show |
a0004a0037 | a0004c0112a0004c0113a0004c0114others(1): Show | a0004c0112t0005a0004c0113t0002a0004c0114t0005others(1): Show | a0004c0112t0005g0101 a0004c0113t0002g0205 a0004c0114t0005g0305 others(1): Show |
4 | 98 | 0.0408 | 6 | c.189 others(23): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 14/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104862049 | T | TACACAC | intron_variant | MODIFIER | HG02886.hp1 HG03225.hp2 HG03540.hp1 others(1): Show |
a0002a0003a0012 | a0002c0015a0002c0037a0003c0077others(1): Show | a0002c0015t0002a0002c0037t0001a0003c0077t0005others(1): Show | a0002c0015t0002g0314 a0002c0037t0001g0189 a0003c0077t0005g0311 others(1): Show |
4 | 175 | 0.0229 | 6 | c.422 others(21): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104888058 | G | GGTGTGT | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00544.hp1 others(57): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0005a0001c0035others(28): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(49): Show | a0001c0001t0001g0089 a0001c0001t0003g0090 a0001c0001t0004g0250 others(57): Show |
60 | 240 | 0.2500 | 6 | c.160 others(23): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 3/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104896711 | C | CTTTTTT | intron_variant | MODIFIER | HG01255.hp2 HG01993.hp1 HG02572.hp2 others(5): Show |
a0002a0003a0005others(3): Show | a0002c0015a0002c0025a0003c0038others(4): Show | a0002c0015t0013a0002c0025t0015a0003c0038t0005others(4): Show | a0002c0015t0013g0001 a0002c0025t0015g0197 a0003c0038t0005g0306 others(4): Show |
8 | 53 | 0.1509 | 6 | c.66+ others(21): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 2/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104909654 | A | ACACACG | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG02738.hp2 |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0001a0001c0001t0003a0004c0008t0003 | a0001c0001t0001g0089 a0001c0001t0003g0090 a0004c0008t0003g0213 |
3 | 145 | 0.0207 | 6 | c.-92 others(23): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 1/49 | chr9 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2289961 | T | TCACACA | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00544.hp2 others(28): Show |
a0001a0010 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0034 a0001c0001t0001g0074 a0001c0001t0001g0076 others(28): Show |
31 | 67 | 0.4627 | 6 | c.251 others(23): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 19/32 | chr16 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2315203 | T | TACACAC | intron_variant | MODIFIER | HG00544.hp2 HG01433.hp2 HG01496.hp1 others(4): Show |
a0001a0012 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0003t0002a0001c0004t0001others(1): Show | a0001c0001t0001g0143 a0001c0001t0001g0185 a0001c0003t0002g0209 others(4): Show |
7 | 175 | 0.0400 | 6 | c.111 others(25): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2316490 | C | CAAAAAA | intron_variant | MODIFIER | HG01109.hp2 HG02602.hp2 HG02615.hp2 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0076 a0001c0001t0001g0099 a0001c0001t0001g0143 others(3): Show |
6 | 21 | 0.2857 | 6 | c.111 others(23): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94028930 | A | AAAAAAC | intron_variant | MODIFIER | HG02559.hp1 HG02572.hp1 HG03139.hp2 others(4): Show |
a0001a0003a0011others(4): Show | a0001c0107a0003c0068a0011c0018others(4): Show | a0001c0107t0001a0003c0068t0001a0011c0018t0001others(4): Show | a0001c0107t0001g0268 a0003c0068t0001g0035 a0011c0018t0001g0006 others(4): Show |
7 | 172 | 0.0407 | 6 | c.453 others(23): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 30/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94046444 | G | GGAGTAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(204): Show |
a0001a0002a0003others(37): Show | a0001c0001a0001c0003a0001c0004others(67): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(69): Show | a0001c0001t0001g0003 a0001c0001t0001g0021 a0001c0001t0001g0030 others(200): Show |
207 | 304 | 0.6809 | 6 | c.291 others(23): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 19/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94046455 | C | CAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(53): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0003a0001c0004others(20): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(20): Show | a0001c0001t0001g0030 a0001c0001t0001g0047 a0001c0001t0001g0056 others(53): Show |
56 | 199 | 0.2814 | 6 | c.291 others(23): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 19/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94116968 | C | CTTTCTT | intron_variant | MODIFIER | HG01109.hp2 NA18985.hp2 NA19063.hp2 |
a0001a0002a0004 | a0001c0001a0002c0029a0004c0044 | a0001c0001t0001a0002c0029t0001a0004c0044t0002 | a0001c0001t0001g0200 a0002c0029t0001g0262 a0004c0044t0002g0205 |
3 | 143 | 0.0210 | 6 | c.67- others(21): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 1/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94122525 | T | TTGATGA | upstream_gene_variant | MODIFIER | HG00639.hp2 HG02040.hp2 HG02148.hp1 others(6): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0011others(4): Show | a0001c0001t0001a0002c0002t0001a0004c0011t0002others(4): Show | a0001c0001t0001g0087 a0001c0001t0001g0164 a0002c0002t0001g0017 others(6): Show |
9 | 125 | 0.0720 | 6 | c.-14 others(17): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 1378 | chr1 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69263697 | C | CTTTTTT | intron_variant | MODIFIER | HG00323.hp1 HG01070.hp2 HG02027.hp1 others(18): Show |
a0001a0002a0008others(1): Show | a0001c0002a0002c0001a0008c0012others(1): Show | a0001c0002t0001a0001c0002t0012a0001c0002t0013others(4): Show | a0001c0002t0001g0044 a0001c0002t0001g0083 a0001c0002t0001g0089 others(18): Show |
21 | 37 | 0.5676 | 6 | c.331 others(25): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 24/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69274839 | C | CTTTTTT | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00609.hp2 others(42): Show |
a0001a0013 | a0001c0002a0001c0006a0001c0008others(2): Show | a0001c0002t0001a0001c0006t0001a0001c0006t0007others(3): Show | a0001c0002t0001g0056 a0001c0002t0001g0059 a0001c0002t0001g0060 others(42): Show |
45 | 64 | 0.7031 | 6 | c.259 others(23): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 19/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69293164 | T | TACACAC | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(113): Show |
a0001a0004a0012others(1): Show | a0001c0002a0001c0006a0001c0008others(6): Show | a0001c0002t0001a0001c0002t0013a0001c0002t0020others(11): Show | a0001c0002t0001g0003 a0001c0002t0001g0044 a0001c0002t0001g0045 others(112): Show |
116 | 342 | 0.3392 | 6 | c.149 others(25): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 11/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69293833 | G | GGTGTGT | intron_variant | MODIFIER | HG00642.hp1 HG01346.hp1 HG02723.hp2 others(7): Show |
a0001a0003a0006 | a0001c0002a0001c0004a0003c0003others(1): Show | a0001c0002t0001a0001c0004t0003a0001c0004t0026others(3): Show | a0001c0002t0001g0117 a0001c0002t0001g0119 a0001c0004t0003g0165 others(7): Show |
10 | 258 | 0.0388 | 6 | c.149 others(23): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 11/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69299471 | T | TACACAC | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp2 others(104): Show |
a0001a0002a0005others(7): Show | a0001c0002a0002c0001a0002c0016others(8): Show | a0001c0002t0001a0001c0002t0012a0002c0001t0002others(18): Show | a0001c0002t0001g0137 a0001c0002t0001g0143 a0001c0002t0012g0011 others(103): Show |
107 | 178 | 0.6011 | 6 | c.126 others(25): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69303759 | T | TAAAAAA | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00741.hp1 others(35): Show |
a0001a0002a0013 | a0001c0002a0001c0013a0001c0024others(2): Show | a0001c0002t0001a0001c0002t0013a0001c0013t0002others(5): Show | a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 others(35): Show |
38 | 192 | 0.1979 | 6 | c.931 others(21): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69086486 | A | AATATAT | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01106.hp1 others(26): Show |
a0002a0004a0005others(2): Show | a0002c0002a0004c0004a0005c0005others(2): Show | a0002c0002t0002a0004c0004t0002a0005c0005t0002others(2): Show | a0002c0002t0002g0010 a0002c0002t0002g0028 a0002c0002t0002g0029 others(17): Show |
29 | 72 | 0.4028 | 6 | c.393 others(23): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 30/38 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69142854 | G | GTGTGTA | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02630.hp2 HG02886.hp1 others(2): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0266 a0003c0003t0001g0273 a0003c0003t0001g0274 others(2): Show |
5 | 144 | 0.0347 | 6 | c.-11 others(17): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 960 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69146410 | A | AATATAT | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01106.hp1 others(6): Show |
a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0008 a0006c0007t0001g0023 a0006c0007t0001g0024 others(2): Show |
9 | 195 | 0.0462 | 6 | c.-47 others(17): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 4516 | chr17 | TogoVar | |||||||
ABCA7_chr19_1035107_1070572 | 1050782 | A | AAATAAT | intron_variant | MODIFIER | HG01071.hp1 HG02071.hp2 HG02723.hp1 others(2): Show |
a0001a0002a0009others(1): Show | a0001c0001a0002c0003a0009c0010others(1): Show | a0001c0001t0003a0002c0003t0001a0009c0010t0001others(1): Show | a0001c0001t0003g0015 a0001c0001t0003g0017 a0002c0003t0001g0009 others(2): Show |
5 | 8 | 0.6250 | 6 | c.255 others(23): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68887911 | T | TATATCC | intron_variant | MODIFIER | HG02258.hp2 HG04184.hp2 HG04199.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004a0001c0023 | a0001c0001t0001a0001c0004t0001a0001c0023t0001 | a0001c0001t0001g0169 a0001c0001t0001g0227 a0001c0004t0001g0189 others(1): Show |
4 | 91 | 0.0440 | 6 | c.314 others(23): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 24/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68911734 | T | TACACAC | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00639.hp2 others(23): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0002a0001c0004others(10): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(10): Show | a0001c0001t0001g0017 a0001c0001t0001g0026 a0001c0001t0001g0032 others(23): Show |
26 | 117 | 0.2222 | 6 | c.213 others(25): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 17/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68918930 | C | CAAAAAA | intron_variant | MODIFIER | HG01071.hp2 HG01106.hp1 HG01516.hp2 others(21): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(10): Show | a0001c0001t0001g0154 a0001c0001t0001g0214 a0001c0001t0001g0215 others(20): Show |
24 | 186 | 0.1290 | 6 | c.178 others(23): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 14/39 | chr17 | TogoVar |