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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCA13_chr7_48166458_48652497 | 48425730 | C | CTTAT | intron_variant | MODIFIER | HG00558.hp2 HG00738.hp1 HG00741.hp2 others(37): Show |
a0001a0004a0005others(20): Show | a0001c0001a0004c0009a0005c0007others(25): Show | a0001c0001t0001a0004c0009t0001a0005c0007t0002others(27): Show | a0001c0001t0001g0177 a0004c0009t0001g0115 a0005c0007t0002g0129 others(37): Show |
40 | 158 | 0.2532 | 4 | c.124 others(25): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 41/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48442270 | C | CCAAA | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00741.hp1 others(49): Show |
a0001a0002a0003others(26): Show | a0001c0001a0001c0010a0002c0002others(33): Show | a0001c0001t0001a0001c0001t0004a0001c0010t0001others(38): Show | a0001c0001t0001g0042 a0001c0001t0001g0050 a0001c0001t0001g0063 others(49): Show |
52 | 176 | 0.2955 | 4 | 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 | 48541655 | A | AACCC | intron_variant | MODIFIER | HG00408.hp1 HG00741.hp1 HG01070.hp2 others(33): Show |
a0001a0002a0003others(24): Show | a0001c0001a0002c0002a0002c0022others(27): Show | a0001c0001t0004a0002c0002t0004a0002c0022t0004others(28): Show | a0001c0001t0004g0049 a0001c0001t0004g0164 a0002c0002t0004g0106 others(33): Show |
36 | 176 | 0.2045 | 4 | c.143 others(27): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48550728 | A | AATCT | intron_variant | MODIFIER | HG00408.hp1 HG00741.hp1 HG01070.hp2 others(33): Show |
a0001a0002a0003others(24): Show | a0001c0001a0002c0002a0002c0022others(27): Show | a0001c0001t0004a0002c0002t0004a0002c0022t0004others(28): Show | a0001c0001t0004g0049 a0001c0001t0004g0164 a0002c0002t0004g0106 others(33): Show |
36 | 176 | 0.2045 | 4 | c.143 others(27): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48562302 | T | TTTTG | intron_variant | MODIFIER | HG00408.hp1 HG00741.hp1 HG01070.hp2 others(33): Show |
a0001a0002a0003others(24): Show | a0001c0001a0002c0002a0002c0022others(27): Show | a0001c0001t0004a0002c0002t0004a0002c0022t0004others(28): Show | a0001c0001t0004g0049 a0001c0001t0004g0164 a0002c0002t0004g0106 others(33): Show |
36 | 176 | 0.2045 | 4 | c.143 others(27): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48606524 | T | TTGTC | intron_variant | MODIFIER | HG02109.hp1 HG02280.hp1 HG02886.hp1 others(5): Show |
a0006a0007a0014others(5): Show | a0006c0024a0007c0011a0014c0076others(5): Show | a0006c0024t0001a0007c0011t0007a0014c0076t0001others(5): Show | a0006c0024t0001g0019 a0007c0011t0007g0165 a0014c0076t0001g0021 others(5): Show |
8 | 176 | 0.0455 | 4 | c.147 others(25): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 58/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48624059 | A | AGTGT | intron_variant | MODIFIER | HG01123.hp2 HG01433.hp1 HG02280.hp1 others(2): Show |
a0001a0018a0025others(2): Show | a0001c0001a0018c0026a0025c0085others(2): Show | a0001c0001t0001a0018c0026t0001a0025c0085t0004others(2): Show | a0001c0001t0001g0064 a0018c0026t0001g0057 a0025c0085t0004g0008 others(2): Show |
5 | 96 | 0.0521 | 4 | c.148 others(25): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 59/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48633939 | G | GATAC | intron_variant | MODIFIER | HG00558.hp1 HG00735.hp2 HG00738.hp1 others(40): Show |
a0001a0002a0003others(27): Show | a0001c0001a0001c0103a0002c0002others(34): Show | a0001c0001t0006a0001c0103t0006a0002c0002t0004others(34): Show | a0001c0001t0006g0178 a0001c0103t0006g0059 a0002c0002t0004g0142 others(40): Show |
43 | 176 | 0.2443 | 4 | c.148 others(25): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 59/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48651589 | A | ATTAT | downstream_gene_variant | MODIFIER | HG02280.hp1 HG03486.hp1 |
a0046a0069 | a0046c0067a0069c0086 | a0046c0067t0009a0069c0086t0009 | a0046c0067t0009g0144 a0069c0086t0009g0160 |
2 | 172 | 0.0116 | 4 | c.*60 others(15): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 4093 | chr7 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104789771 | C | CCACT | intron_variant | MODIFIER | HG00408.hp2 HG00609.hp1 HG00621.hp2 others(78): Show |
a0002a0003a0004others(10): Show | a0002c0011a0002c0015a0002c0017others(41): Show | a0002c0011t0004a0002c0011t0020a0002c0015t0002others(64): Show | a0002c0011t0004g0177 a0002c0011t0004g0269 a0002c0011t0020g0226 others(77): Show |
81 | 316 | 0.2563 | 4 | c.592 others(23): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 44/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104794512 | T | TAAAA | splice_region_variant others(1): Show |
LOW | HG01346.hp2 HG01978.hp1 HG02148.hp2 others(5): Show |
a0001a0003a0009 | a0001c0001a0001c0092a0003c0038others(2): Show | a0001c0001t0001a0001c0001t0007a0001c0092t0012others(3): Show | a0001c0001t0001g0017 a0001c0001t0001g0121 a0001c0001t0001g0251 others(5): Show |
8 | 30 | 0.2667 | 4 | c.538 others(17): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 39/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104799394 | T | TCACA | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG01070.hp2 others(24): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0005a0001c0108others(15): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0011others(18): Show | a0001c0001t0002g0075 a0001c0001t0004g0248 a0001c0001t0011g0086 others(24): Show |
27 | 38 | 0.7105 | 4 | c.494 others(21): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 36/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104801116 | T | TAAAA | intron_variant | MODIFIER | HG00408.hp2 HG00609.hp1 HG00621.hp2 others(65): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0005a0002c0011others(32): Show | a0001c0001t0011a0001c0005t0002a0002c0011t0004others(54): Show | a0001c0001t0011g0086 a0001c0005t0002g0167 a0002c0011t0004g0177 others(65): Show |
68 | 69 | 0.9855 | 4 | c.469 others(21): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 34/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104807845 | T | TACAC | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG02622.hp1 others(3): Show |
a0001a0015a0037 | a0001c0001a0015c0020a0037c0062 | a0001c0001t0001a0001c0001t0039a0015c0020t0001others(2): Show | a0001c0001t0001g0089 a0001c0001t0039g0158 a0015c0020t0001g0007 others(3): Show |
6 | 77 | 0.0779 | 4 | c.427 others(23): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 30/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104807845 | T | TATAC | intron_variant | MODIFIER | HG00408.hp2 HG00609.hp1 HG00621.hp2 others(24): Show |
a0002a0004a0005others(5): Show | a0002c0011a0002c0037a0004c0008others(7): Show | a0002c0011t0004a0002c0011t0020a0002c0037t0011others(19): Show | a0002c0011t0004g0177 a0002c0011t0020g0226 a0002c0037t0011g0126 others(24): Show |
27 | 98 | 0.2755 | 4 | c.427 others(23): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 30/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104810141 | C | CATAT | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp2 others(11): Show |
a0001a0002a0007others(6): Show | a0001c0108a0002c0031a0002c0081others(7): Show | a0001c0108t0002a0002c0031t0001a0002c0081t0013others(9): Show | a0001c0108t0002g0114 a0002c0031t0001g0155 a0002c0031t0001g0192 others(11): Show |
14 | 183 | 0.0765 | 4 | c.417 others(21): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 29/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104829943 | T | TACAC | intron_variant | MODIFIER | HG02717.hp1 NA18747.hp1 NA18998.hp2 others(1): Show |
a0001a0019 | a0001c0001a0001c0005a0019c0095 | a0001c0001t0001a0001c0001t0002a0001c0005t0004others(1): Show | a0001c0001t0001g0093 a0001c0001t0002g0139 a0001c0005t0004g0142 others(1): Show |
4 | 98 | 0.0408 | 4 | c.189 others(21): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 14/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104850119 | T | TTTTG | intron_variant | MODIFIER | HG01257.hp1 HG01257.hp2 HG01884.hp2 others(13): Show |
a0002a0003a0008others(6): Show | a0002c0017a0002c0032a0002c0058others(10): Show | a0002c0017t0026a0002c0032t0001a0002c0058t0007others(11): Show | a0002c0017t0026g0190 a0002c0017t0026g0209 a0002c0032t0001g0026 others(13): Show |
16 | 148 | 0.1081 | 4 | c.721 others(21): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 7/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104857704 | C | CAAAA | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG01891.hp1 others(10): Show |
a0002a0003a0005others(2): Show | a0002c0015a0002c0075a0003c0056others(8): Show | a0002c0015t0002a0002c0015t0004a0002c0075t0027others(9): Show | a0002c0015t0002g0314 a0002c0015t0004g0005 a0002c0075t0027g0153 others(10): Show |
13 | 316 | 0.0411 | 4 | c.720 others(19): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 7/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104862049 | T | TACAC | intron_variant | MODIFIER | HG00558.hp2 HG01109.hp1 HG01243.hp2 others(16): Show |
a0002a0005a0006others(6): Show | a0002c0015a0002c0032a0002c0074others(15): Show | a0002c0015t0004a0002c0032t0001a0002c0074t0027others(15): Show | a0002c0015t0004g0005 a0002c0032t0001g0316 a0002c0074t0027g0214 others(16): Show |
19 | 190 | 0.1000 | 4 | c.422 others(19): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104862674 | C | CCCCA | intron_variant | MODIFIER | HG00738.hp2 HG01261.hp1 HG01952.hp1 others(2): Show |
a0001a0002a0004 | a0001c0001a0002c0037a0004c0008others(1): Show | a0001c0001t0001a0002c0037t0001a0004c0008t0004others(1): Show | a0001c0001t0001g0078 a0001c0001t0001g0273 a0002c0037t0001g0189 others(2): Show |
5 | 286 | 0.0175 | 4 | c.422 others(19): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104882028 | T | TAAAA | intron_variant | MODIFIER | HG01255.hp2 HG01433.hp1 HG01934.hp2 others(3): Show |
a0002a0007a0010others(1): Show | a0002c0025a0007c0003a0010c0007others(1): Show | a0002c0025t0015a0007c0003t0003a0010c0007t0002others(1): Show | a0002c0025t0015g0197 a0007c0003t0003g0015 a0010c0007t0002g0013 others(3): Show |
6 | 26 | 0.2308 | 4 | c.421 others(21): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104887276 | A | AAAAC | intron_variant | MODIFIER | HG00741.hp1 HG01099.hp1 HG01106.hp1 others(45): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0005a0002c0011others(31): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(41): Show | a0001c0001t0001g0083 a0001c0001t0003g0267 a0001c0001t0004g0021 others(45): Show |
48 | 316 | 0.1519 | 4 | c.160 others(21): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 3/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104888058 | G | GGTGT | intron_variant | MODIFIER | HG00609.hp1 HG01192.hp2 HG01257.hp2 others(24): Show |
a0001a0002a0004others(9): Show | a0001c0001a0001c0005a0001c0035others(21): Show | a0001c0001t0003a0001c0005t0002a0001c0035t0004others(23): Show | a0001c0001t0003g0221 a0001c0005t0002g0028 a0001c0035t0004g0012 others(24): Show |
27 | 207 | 0.1304 | 4 | c.160 others(21): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 3/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104896711 | C | CTTTT | intron_variant | MODIFIER | HG00423.hp2 HG01099.hp1 HG01106.hp1 others(5): Show |
a0001a0002a0003others(4): Show | a0001c0005a0002c0011a0003c0002others(5): Show | a0001c0005t0001a0002c0011t0004a0003c0002t0014others(5): Show | a0001c0005t0001g0047 a0002c0011t0004g0177 a0003c0002t0014g0067 others(5): Show |
8 | 53 | 0.1509 | 4 | c.66+ others(19): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 2/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104898549 | A | AAAAT | intron_variant | MODIFIER | HG00408.hp2 HG01071.hp2 HG01169.hp1 others(9): Show |
a0001a0003a0006others(4): Show | a0001c0097a0003c0002a0003c0009others(5): Show | a0001c0097t0001a0003c0002t0002a0003c0009t0003others(7): Show | a0001c0097t0001g0107 a0003c0002t0002g0041 a0003c0002t0002g0127 others(9): Show |
12 | 130 | 0.0923 | 4 | c.66+ others(19): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 2/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104904934 | A | AAGGG | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG01952.hp1 others(8): Show |
a0002a0004a0005others(4): Show | a0002c0031a0002c0078a0004c0043others(6): Show | a0002c0031t0001a0002c0078t0001a0004c0043t0003others(6): Show | a0002c0031t0001g0155 a0002c0078t0001g0271 a0004c0043t0003g0129 others(8): Show |
11 | 305 | 0.0361 | 4 | c.-92 others(21): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 1/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104909654 | A | ACACG | intron_variant | MODIFIER | HG02055.hp1 HG03471.hp1 HG03491.hp1 others(2): Show |
a0005a0009a0020 | a0005c0016a0005c0039a0009c0021others(1): Show | a0005c0016t0001a0005c0039t0017a0009c0021t0001others(1): Show | a0005c0016t0001g0046 a0005c0039t0017g0019 a0005c0039t0017g0020 others(2): Show |
5 | 147 | 0.0340 | 4 | c.-92 others(21): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 1/49 | chr9 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2287288 | C | CTTTT | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp2 HG01099.hp2 others(4): Show |
a0001 | a0001c0004a0001c0007 | a0001c0004t0001a0001c0007t0001 | a0001c0004t0001g0067 a0001c0004t0001g0080 a0001c0004t0001g0106 others(4): Show |
7 | 249 | 0.0281 | 4 | c.300 others(21): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 21/32 | chr16 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2289961 | T | TCACA | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00621.hp1 others(64): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0052 a0001c0001t0001g0059 a0001c0001t0001g0062 others(64): Show |
67 | 103 | 0.6505 | 4 | c.251 others(21): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 19/32 | chr16 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2315203 | T | TACAC | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00642.hp2 others(17): Show |
a0001a0005a0007others(1): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(5): Show | a0001c0001t0001g0064 a0001c0001t0001g0081 a0001c0001t0001g0107 others(17): Show |
20 | 188 | 0.1064 | 4 | c.111 others(23): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2315238 | A | ACACG | intron_variant | MODIFIER | HG02280.hp1 HG03453.hp2 HG03486.hp2 others(2): Show |
a0001 | a0001c0002a0001c0006 | a0001c0002t0001a0001c0002t0003a0001c0006t0004 | a0001c0002t0001g0108 a0001c0002t0003g0017 a0001c0006t0004g0004 others(2): Show |
5 | 205 | 0.0244 | 4 | c.111 others(23): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2316490 | C | CAAAA | intron_variant | MODIFIER | HG02602.hp1 HG02922.hp1 NA18612.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0127 a0001c0001t0001g0154 a0001c0001t0001g0188 others(2): Show |
5 | 20 | 0.2500 | 4 | c.111 others(21): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94028930 | A | AAAAC | intron_variant | MODIFIER | HG00642.hp2 HG01109.hp2 HG01175.hp2 others(23): Show |
a0001a0002a0003others(8): Show | a0001c0003a0001c0004a0001c0005others(18): Show | a0001c0003t0001a0001c0004t0001a0001c0004t0002others(19): Show | a0001c0003t0001g0278 a0001c0004t0001g0187 a0001c0004t0002g0231 others(23): Show |
26 | 191 | 0.1361 | 4 | c.453 others(21): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 30/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94046455 | C | CAAAA | intron_variant | MODIFIER | HG01192.hp2 HG02109.hp1 HG02486.hp1 others(14): Show |
a0001a0003a0007others(2): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(7): Show | a0001c0001t0001g0127 a0001c0001t0001g0146 a0001c0001t0001g0191 others(14): Show |
17 | 160 | 0.1063 | 4 | c.291 others(21): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 19/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94049827 | A | AACAC | intron_variant | MODIFIER | HG01891.hp2 HG01928.hp1 HG02486.hp2 others(12): Show |
a0001a0003a0006others(6): Show | a0001c0107a0003c0031a0003c0068others(9): Show | a0001c0107t0001a0003c0031t0004a0003c0068t0001others(9): Show | a0001c0107t0001g0268 a0003c0031t0004g0131 a0003c0068t0001g0035 others(12): Show |
15 | 286 | 0.0524 | 4 | c.265 others(21): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 17/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94085156 | C | CAAAT | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00544.hp2 others(55): Show |
a0002a0005a0013others(11): Show | a0002c0002a0002c0010a0002c0028others(18): Show | a0002c0002t0001a0002c0010t0001a0002c0028t0001others(18): Show | a0002c0002t0001g0002 a0002c0002t0001g0007 a0002c0002t0001g0017 others(52): Show |
58 | 304 | 0.1908 | 4 | c.769 others(21): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 6/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94116938 | C | CCCTT | intron_variant | MODIFIER | HG00423.hp2 HG00621.hp2 HG01928.hp1 others(16): Show |
a0001a0002a0008others(2): Show | a0001c0001a0001c0003a0001c0005others(6): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(6): Show | a0001c0001t0001g0271 a0001c0001t0001g0280 a0001c0001t0001g0281 others(16): Show |
19 | 304 | 0.0625 | 4 | c.67- others(19): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 1/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94116966 | T | TTGTC | intron_variant | MODIFIER | HG00621.hp2 HG01928.hp1 HG03486.hp2 others(4): Show |
a0001a0002a0008others(2): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0001others(3): Show | a0001c0001t0001g0281 a0001c0003t0001g0276 a0002c0002t0001g0286 others(4): Show |
7 | 275 | 0.0255 | 4 | c.67- others(19): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 1/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94116968 | C | CTCTT | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00735.hp1 others(34): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0003a0001c0007others(19): Show | a0001c0001t0001a0001c0003t0001a0001c0007t0001others(19): Show | a0001c0001t0001g0047 a0001c0001t0001g0084 a0001c0001t0001g0087 others(34): Show |
37 | 177 | 0.2090 | 4 | c.67- others(19): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 1/49 | chr1 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69283818 | C | CAGTA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(321): Show |
a0001a0002a0003others(12): Show | a0001c0002a0001c0004a0001c0006others(20): Show | a0001c0002t0001a0001c0002t0012a0001c0002t0013others(44): Show | a0001c0002t0001g0003 a0001c0002t0001g0044 a0001c0002t0001g0045 others(317): Show |
324 | 348 | 0.9310 | 4 | c.239 others(21): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 18/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69293833 | G | GGTGT | intron_variant | MODIFIER | HG00280.hp2 HG00609.hp2 HG00639.hp1 others(23): Show |
a0001a0003a0006others(1): Show | a0001c0002a0003c0003a0006c0009others(1): Show | a0001c0002t0001a0001c0002t0020a0003c0003t0003others(3): Show | a0001c0002t0001g0003 a0001c0002t0001g0067 a0001c0002t0001g0068 others(21): Show |
26 | 274 | 0.0949 | 4 | c.149 others(21): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 11/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69298229 | T | TAGGA | intron_variant | MODIFIER | HG02451.hp2 HG02615.hp2 HG02717.hp1 others(2): Show |
a0001a0004 | a0001c0002a0004c0005 | a0001c0002t0012a0004c0005t0003a0004c0005t0030 | a0001c0002t0012g0011 a0001c0002t0012g0012 a0004c0005t0003g0203 others(2): Show |
5 | 202 | 0.0248 | 4 | c.126 others(21): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69298233 | A | AAGGT | intron_variant | MODIFIER | HG00323.hp1 HG00741.hp2 HG01261.hp2 others(16): Show |
a0002 | a0002c0001 | a0002c0001t0002a0002c0001t0032 | a0002c0001t0002g0014 a0002c0001t0002g0015 a0002c0001t0002g0210 others(16): Show |
19 | 314 | 0.0605 | 4 | c.126 others(21): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69298316 | G | GAGGA | intron_variant | MODIFIER | HG02572.hp2 HG02622.hp2 HG02809.hp1 others(5): Show |
a0001a0003a0004 | a0001c0002a0001c0004a0003c0003others(1): Show | a0001c0002t0001a0001c0004t0003a0003c0003t0003others(2): Show | a0001c0002t0001g0060 a0001c0004t0003g0335 a0001c0004t0003g0336 others(5): Show |
8 | 75 | 0.1067 | 4 | c.126 others(21): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69299471 | T | TACAC | intron_variant | MODIFIER | HG02040.hp2 HG02293.hp1 HG03516.hp1 others(1): Show |
a0001a0002a0007 | a0001c0004a0002c0001a0007c0011 | a0001c0004t0003a0002c0001t0002a0002c0001t0004others(1): Show | a0001c0004t0003g0330 a0002c0001t0002g0309 a0002c0001t0004g0191 others(1): Show |
4 | 75 | 0.0533 | 4 | c.126 others(23): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69303759 | T | TAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG01257.hp2 others(14): Show |
a0001a0002a0007 | a0001c0002a0001c0004a0002c0001others(1): Show | a0001c0002t0001a0001c0004t0005a0002c0001t0002others(1): Show | a0001c0002t0001g0065 a0001c0002t0001g0074 a0001c0002t0001g0114 others(14): Show |
17 | 171 | 0.0994 | 4 | c.931 others(19): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69303795 | T | TACAC | intron_variant | MODIFIER | HG00609.hp1 HG03195.hp2 NA19009.hp2 |
a0001a0003a0006 | a0001c0002a0003c0003a0006c0009 | a0001c0002t0001a0003c0003t0003a0006c0009t0008 | a0001c0002t0001g0054 a0003c0003t0003g0009 a0006c0009t0008g0163 |
3 | 344 | 0.0087 | 4 | c.930 others(19): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69303829 | T | TACAC | intron_variant | MODIFIER | HG00609.hp1 HG02257.hp2 HG03195.hp2 |
a0003a0006 | a0003c0003a0006c0009 | a0003c0003t0003a0006c0009t0008 | a0003c0003t0003g0009 a0006c0009t0008g0162 a0006c0009t0008g0163 |
3 | 301 | 0.0100 | 4 | c.930 others(19): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69303845 | C | CATAT | intron_variant | MODIFIER | HG02027.hp1 HG02698.hp1 HG02698.hp2 others(14): Show |
a0001a0012 | a0001c0002a0001c0017a0012c0015 | a0001c0002t0001a0001c0002t0013a0001c0017t0001others(1): Show | a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0081 others(14): Show |
17 | 219 | 0.0776 | 4 | c.930 others(19): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar |