regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 | 48411183 | C | CTCTT | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00558.hp2 others(37): Show |
a0001a0002a0003others(25): Show | a0001c0010a0002c0022a0003c0003others(26): Show | a0001c0010t0002a0002c0022t0002a0003c0003t0004others(29): Show | a0001c0010t0002g0074a0002c0022t0002g0124a0003c0003t0004g0028others(37): Show | 40 | 178 | 0.2247 | 4 | c.122 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 40/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48411241 | C | CTCTT | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00558.hp2 others(36): Show |
a0001a0002a0003others(24): Show | a0001c0010a0002c0022a0003c0003others(25): Show | a0001c0010t0002a0002c0022t0002a0003c0003t0004others(28): Show | a0001c0010t0002g0074a0002c0022t0002g0124a0003c0003t0004g0028others(36): Show | 39 | 178 | 0.2191 | 4 | c.122 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 40/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48422108 | G | GAGGA | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00558.hp2 others(87): Show |
a0001a0002a0003others(53): Show | a0001c0001a0002c0002a0003c0003others(63): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0004others(70): Show | a0001c0001t0001g0177a0001c0001t0004g0057a0002c0002t0004g0106others(87): Show | 90 | 178 | 0.5056 | 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 | 48425730 | C | CTTAT | intron_variant | MODIFIER | HG00558.hp2 HG00738.hp1 HG00741.hp2 others(37): Show |
a0001a0004a0005others(20): Show | a0001c0001a0004c0009a0005c0005others(25): Show | a0001c0001t0001a0004c0009t0001a0005c0005t0003others(27): Show | a0001c0001t0001g0177a0004c0009t0001g0116a0005c0005t0003g0090others(37): Show | 40 | 178 | 0.2247 | 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 | a0001c0001t0001g0042a0001c0001t0001g0058a0001c0001t0001g0063others(49): Show | 52 | 178 | 0.2921 | 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 | a0001c0001t0004g0057a0001c0001t0004g0164a0002c0002t0004g0106others(33): Show | 36 | 178 | 0.2023 | 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 | a0001c0001t0004g0057a0001c0001t0004g0164a0002c0002t0004g0106others(33): Show | 36 | 178 | 0.2023 | 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 | a0001c0001t0004g0057a0001c0001t0004g0164a0002c0002t0004g0106others(33): Show | 36 | 178 | 0.2023 | 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 |
a0005a0007a0015others(5): Show | a0005c0024a0007c0011a0015c0076others(5): Show | a0005c0024t0001a0007c0011t0007a0015c0076t0001others(5): Show | a0005c0024t0001g0018a0007c0011t0007g0165a0015c0076t0001g0021others(5): Show | 8 | 178 | 0.0449 | 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 |
a0001a0025a0026others(2): Show | a0001c0001a0025c0085a0026c0026others(2): Show | a0001c0001t0001a0025c0085t0004a0026c0026t0001others(2): Show | a0001c0001t0001g0064a0025c0085t0004g0008a0026c0026t0001g0053others(2): Show | 5 | 178 | 0.0281 | 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(41): Show |
a0001a0002a0003others(27): Show | a0001c0001a0001c0103a0002c0002others(35): Show | a0001c0001t0006a0001c0103t0006a0002c0002t0004others(35): Show | a0001c0001t0006g0178a0001c0103t0006g0059a0002c0002t0004g0140others(41): Show | 44 | 178 | 0.2472 | 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 |
a0068a0081 | a0068c0067a0081c0086 | a0068c0067t0009a0081c0086t0009 | a0068c0067t0009g0142a0081c0086t0009g0160 | 2 | 178 | 0.0112 | 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 | a0002c0011t0004g0213a0002c0011t0004g0263a0002c0011t0020g0171others(78): Show | 81 | 318 | 0.2547 | 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 | a0001c0001t0001g0016a0001c0001t0001g0121a0001c0001t0001g0196others(5): Show | 8 | 318 | 0.0252 | 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 | a0001c0001t0002g0074a0001c0001t0004g0193a0001c0001t0011g0085others(24): Show | 27 | 318 | 0.0849 | 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 | a0001c0001t0011g0085a0001c0005t0002g0254a0002c0011t0004g0213others(65): Show | 68 | 318 | 0.2138 | 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 |
a0001a0015a0027 | a0001c0001a0015c0020a0027c0062 | a0001c0001t0001a0001c0001t0039a0015c0020t0001others(2): Show | a0001c0001t0001g0088a0001c0001t0039g0246a0015c0020t0001g0006others(3): Show | 6 | 318 | 0.0189 | 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 | a0002c0011t0004g0263a0002c0011t0020g0171a0002c0037t0011g0116others(24): Show | 27 | 318 | 0.0849 | 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 | a0001c0108t0002g0113a0002c0031t0001g0152a0002c0031t0001g0278others(11): Show | 14 | 318 | 0.0440 | 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 |
a0001a0028 | a0001c0001a0001c0005a0028c0095 | a0001c0001t0001a0001c0001t0002a0001c0005t0004others(1): Show | a0001c0001t0001g0102a0001c0001t0002g0137a0001c0005t0004g0167others(1): Show | 4 | 318 | 0.0126 | 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 | a0002c0017t0026g0163a0002c0017t0026g0276a0002c0032t0001g0025others(13): Show | 16 | 318 | 0.0503 | 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 | a0002c0015t0002g0315a0002c0015t0004g0004a0002c0075t0027g0150others(10): Show | 13 | 318 | 0.0409 | 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 | a0002c0015t0004g0004a0002c0032t0001g0317a0002c0074t0027g0290others(16): Show | 19 | 318 | 0.0598 | 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 | a0001c0001t0001g0077a0001c0001t0001g0218a0002c0037t0001g0275others(2): Show | 5 | 318 | 0.0157 | 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 | a0002c0025t0015g0283a0007c0003t0003g0014a0010c0007t0002g0012others(3): Show | 6 | 318 | 0.0189 | 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 | a0001c0001t0001g0082a0001c0001t0003g0211a0001c0001t0004g0021others(45): Show | 48 | 318 | 0.1509 | 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 | a0001c0001t0003g0297a0001c0005t0002g0031a0001c0035t0004g0011others(24): Show | 27 | 318 | 0.0849 | 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 | a0001c0005t0001g0050a0002c0011t0004g0263a0003c0002t0014g0066others(5): Show | 8 | 318 | 0.0252 | 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(10): Show |
a0001a0003a0006others(4): Show | a0001c0001a0001c0097a0003c0002others(6): Show | a0001c0001t0001a0001c0097t0001a0003c0002t0002others(8): Show | a0001c0001t0001g0195a0001c0097t0001g0106a0003c0002t0002g0044others(10): Show | 13 | 318 | 0.0409 | 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 | a0002c0031t0001g0152a0002c0078t0001g0216a0004c0043t0003g0128others(8): Show | 11 | 318 | 0.0346 | 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 |
a0005a0009a0019 | a0005c0016a0005c0039a0009c0021others(1): Show | a0005c0016t0001a0005c0039t0017a0009c0021t0001others(1): Show | a0005c0016t0001g0049a0005c0039t0017g0018a0005c0039t0017g0019others(2): Show | 5 | 318 | 0.0157 | 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 | a0001c0004t0001g0067a0001c0004t0001g0080a0001c0004t0001g0106others(4): Show | 7 | 252 | 0.0278 | 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 |
a0001a0003a0006others(4): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0052a0001c0001t0001g0059a0001c0001t0001g0062others(64): Show | 67 | 252 | 0.2659 | 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 |
a0001a0005a0006others(1): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(5): Show | a0001c0001t0001g0064a0001c0001t0001g0081a0001c0001t0001g0107others(17): Show | 20 | 252 | 0.0794 | 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 | a0001c0002t0001g0108a0001c0002t0003g0017a0001c0006t0004g0004others(2): Show | 5 | 252 | 0.0198 | 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 | a0001c0001t0001g0127a0001c0001t0001g0154a0001c0001t0001g0188others(2): Show | 5 | 252 | 0.0198 | 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 | a0001c0003t0001g0279a0001c0004t0001g0195a0001c0004t0002g0235others(23): Show | 26 | 306 | 0.0850 | 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 |
a0001a0003a0005others(2): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(7): Show | a0001c0001t0001g0132a0001c0001t0001g0169a0001c0001t0001g0196others(14): Show | 17 | 306 | 0.0556 | 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 | a0001c0107t0001g0009a0003c0031t0004g0130a0003c0068t0001g0108others(12): Show | 15 | 306 | 0.0490 | 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 |
a0002a0007a0012others(11): Show | a0002c0002a0002c0010a0002c0028others(18): Show | a0002c0002t0001a0002c0010t0001a0002c0028t0001others(18): Show | a0002c0002t0001g0001a0002c0002t0001g0010a0002c0002t0001g0020others(53): Show | 58 | 306 | 0.1895 | 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 | a0001c0001t0001g0272a0001c0001t0001g0273a0001c0001t0001g0274others(16): Show | 19 | 306 | 0.0621 | 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 | a0001c0001t0001g0284a0001c0003t0001g0283a0002c0002t0001g0286others(4): Show | 7 | 306 | 0.0229 | 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 | a0001c0001t0001g0067a0001c0001t0001g0074a0001c0001t0001g0075others(34): Show | 37 | 306 | 0.1209 | 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(322): Show |
a0001a0002a0003others(12): Show | a0001c0002a0001c0004a0001c0006others(20): Show | a0001c0002t0001a0001c0002t0012a0001c0002t0013others(44): Show | a0001c0002t0001g0002a0001c0002t0001g0045a0001c0002t0001g0046others(319): Show | 325 | 350 | 0.9286 | 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 | a0001c0002t0001g0002a0001c0002t0001g0068a0001c0002t0001g0069others(22): Show | 26 | 350 | 0.0743 | 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 | a0001c0002t0012g0010a0001c0002t0012g0011a0004c0005t0003g0204others(2): Show | 5 | 350 | 0.0143 | 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 | a0002c0001t0002g0013a0002c0001t0002g0014a0002c0001t0002g0211others(16): Show | 19 | 350 | 0.0543 | 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 | a0001c0002t0001g0059a0001c0004t0003g0336a0001c0004t0003g0337others(5): Show | 8 | 350 | 0.0229 | 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 | a0001c0004t0003g0331a0002c0001t0002g0310a0002c0001t0004g0192others(1): Show | 4 | 350 | 0.0114 | 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 | a0001c0002t0001g0066a0001c0002t0001g0087a0001c0002t0001g0115others(14): Show | 17 | 350 | 0.0486 | 4 | c.931 others(19): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar |