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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CERCAM_chr9_128415857_128442347 | 128423078 | C | CTGTCCAC others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00423.hp2 others(98): Show |
a0001a0011 | a0001c0001a0001c0002a0001c0010others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(6): Show | a0001c0001t0001g0011 a0001c0001t0002g0066 a0001c0002t0001g0011 others(54): Show |
101 | 398 | 0.2538 | 9 | c.309 others(22): Show |
CERCAM | ENSG00000167123.20 | transcript | ENST00000372838.9 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CERKL_chr2_181531672_181662105 | 181609533 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG01109.hp2 others(35): Show |
a0001a0010 | a0001c0001a0001c0002a0010c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0152 a0001c0001t0001g0204 a0001c0001t0001g0279 others(35): Show |
38 | 71 | 0.5352 | 9 | c.239 others(26): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
CERS4_chr19_8204370_8267421 | 8214942 | G | GGGGAGGA others(2): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00733.hp2 HG00741.hp1 others(32): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0019others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(7): Show | a0001c0001t0001g0407 a0001c0001t0003g0011 a0001c0001t0003g0012 others(32): Show |
35 | 416 | 0.0841 | 9 | c.-2+ others(24): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CERS4_chr19_8204370_8267421 | 8254322 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(65): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0197 a0001c0001t0002g0132 a0001c0001t0002g0257 others(65): Show |
68 | 165 | 0.4121 | 9 | c.174 others(24): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CERS4_chr19_8204370_8267421 | 8267294 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG01081.hp1 HG02071.hp1 HG02155.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0408 a0001c0001t0002g0253 a0001c0001t0002g0334 others(6): Show |
9 | 116 | 0.0776 | 9 | c.*51 others(20): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 4874 | chr19 | TogoVar | |||||||
CERS5_chr12_50124289_50172369 | 50148921 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG00733.hp1 HG00735.hp2 HG02818.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0244 a0001c0002t0002g0257 a0001c0002t0002g0259 |
3 | 269 | 0.0112 | 9 | c.198 others(26): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 1/9 | chr12 | TogoVar | |||||||
CERS6_chr2_168451272_168780134 | 168455505 | T | TATCATCA others(2): Show |
upstream_gene_variant | MODIFIER | HG02132.hp2 HG02145.hp1 HG02559.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(11): Show | a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0003g0003 others(15): Show |
18 | 39 | 0.4615 | 9 | c.-94 others(18): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 766 | chr2 | TogoVar | |||||||
CERS6_chr2_168451272_168780134 | 168665947 | G | GACTGTGT others(2): Show |
intron_variant | MODIFIER | NA18949.hp2 NA18954.hp2 NA18957.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 a0001c0001t0002g0091 a0001c0001t0002g0131 |
3 | 165 | 0.0182 | 9 | c.466 others(28): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 4/9 | chr2 | TogoVar | |||||||
CERT1_chr5_75372775_75516629 | 75457970 | T | TGTGTGTG others(2): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01891.hp2 HG02615.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0014 | a0001c0001t0006g0132 a0001c0001t0006g0232 a0001c0001t0006g0233 others(5): Show |
8 | 332 | 0.0241 | 9 | c.348 others(26): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 3/16 | chr5 | TogoVar | |||||||
CES1_chr16_55797851_55838096 | 55809093 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01891.hp2 HG02809.hp1 others(2): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0001a0001c0001t0003a0002c0002t0002others(1): Show | a0001c0001t0001g0013 a0001c0001t0001g0043 a0001c0001t0003g0083 others(2): Show |
5 | 25 | 0.2000 | 9 | c.131 others(28): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 11/13 | chr16 | TogoVar | |||||||
CES1_chr16_55797851_55838096 | 55827277 | C | CAATAATA others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(28): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0013 a0001c0001t0001g0026 a0001c0001t0001g0027 others(27): Show |
31 | 57 | 0.5439 | 9 | c.261 others(24): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 2/13 | chr16 | TogoVar | |||||||
CFAP206_chr6_87402972_87469465 | 87419080 | C | CTGGCATG others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00597.hp2 others(128): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0007a0001c0008others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0007t0001others(9): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(114): Show |
131 | 374 | 0.3503 | 9 | c.840 others(24): Show |
CFAP206 | ENSG00000272514.6 | transcript | ENST00000369562.9 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CFAP210_chr2_169640425_169699405 | 169656387 | A | AGGATGAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00558.hp1 HG00735.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 others(15): Show |
18 | 320 | 0.0563 | 9 | c.820 others(26): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 5/8 | chr2 | TogoVar | |||||||
CFAP221_chr2_119539449_119661661 | 119628292 | G | GTGTGTGT others(2): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01516.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0165 a0002c0002t0001g0221 |
2 | 200 | 0.0100 | 9 | c.165 others(26): Show |
CFAP221 | ENSG00000163075.13 | transcript | ENST00000413369.8 | protein_coding | 16/23 | chr2 | TogoVar | |||||||
CFAP221_chr2_119539449_119661661 | 119628294 | G | GTGTGTGT others(2): Show |
intron_variant | MODIFIER | HG02027.hp2 NA19066.hp2 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0077 a0003c0003t0002g0078 |
2 | 29 | 0.0690 | 9 | c.165 others(26): Show |
CFAP221 | ENSG00000163075.13 | transcript | ENST00000413369.8 | protein_coding | 16/23 | chr2 | TogoVar | |||||||
CFAP251_chr12_121913592_122008919 | 121979563 | C | CTTCTTTT others(2): Show |
intron_variant | MODIFIER | NA18942.hp1 NA18978.hp1 NA18981.hp1 others(3): Show |
a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0058 a0001c0009t0001g0059 a0001c0009t0001g0060 others(3): Show |
6 | 88 | 0.0682 | 9 | c.300 others(28): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP251_chr12_121913592_122008919 | 121979563 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(120): Show |
a0001a0002a0003others(3): Show | a0001c0003a0001c0004a0001c0005others(10): Show | a0001c0003t0001a0001c0004t0001a0001c0005t0001others(10): Show | a0001c0003t0001g0057 a0001c0003t0001g0103 a0001c0003t0001g0269 others(119): Show |
123 | 205 | 0.6000 | 9 | c.300 others(28): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80562657 | C | CAATAATA others(2): Show |
intron_variant | MODIFIER | HG02647.hp1 NA18522.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0001 | a0001c0001t0002g0027 a0001c0003t0001g0086 |
2 | 38 | 0.0526 | 9 | c.243 others(28): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80800479 | T | TGATATAT others(2): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02486.hp2 HG02976.hp2 others(3): Show |
a0001a0002 | a0001c0003a0002c0002a0002c0006 | a0001c0003t0001a0001c0003t0002a0002c0002t0001others(1): Show | a0001c0003t0001g0038 a0001c0003t0002g0084 a0001c0003t0002g0090 others(3): Show |
6 | 93 | 0.0645 | 9 | c.334 others(28): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | chr4 | TogoVar | |||||||
CFAP43_chr10_104124888_104237364 | 104129491 | A | AGATGGTC others(2): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00558.hp1 others(119): Show |
a0001a0002a0004others(8): Show | a0001c0001a0001c0003a0001c0018others(14): Show | a0001c0001t0001a0001c0003t0001a0001c0018t0001others(14): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 others(118): Show |
122 | 304 | 0.4013 | 9 | c.*64 others(18): Show |
CFAP43 | ENSG00000197748.13 | transcript | ENST00000357060.8 | protein_coding | 396 | chr10 | TogoVar | |||||||
CFAP44_chr3_113281930_113446493 | 113315159 | T | TATCCAAT others(2): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02451.hp2 HG02976.hp1 others(4): Show |
a0003a0016a0030 | a0003c0007a0016c0018a0030c0028 | a0003c0007t0035a0003c0007t0056a0003c0007t0060others(3): Show | a0003c0007t0035g0049 a0003c0007t0035g0053 a0003c0007t0056g0054 others(4): Show |
7 | 346 | 0.0202 | 9 | c.451 others(28): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 28/34 | chr3 | TogoVar | |||||||
CFAP45_chr1_159867364_159905165 | 159878753 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02027.hp1 HG03130.hp2 others(5): Show |
a0001a0002a0010 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0001others(2): Show | a0001c0001t0001g0069 a0001c0001t0001g0142 a0001c0002t0001g0107 others(3): Show |
8 | 40 | 0.2000 | 9 | c.104 others(28): Show |
CFAP45 | ENSG00000213085.10 | transcript | ENST00000368099.9 | protein_coding | 8/11 | chr1 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132887618 | C | CCTCTCCT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00642.hp2 others(7): Show |
a0004a0058a0061 | a0004c0005a0058c0048a0061c0049 | a0004c0005t0001a0004c0005t0002a0058c0048t0001others(1): Show | a0004c0005t0001g0220 a0004c0005t0001g0221 a0004c0005t0001g0222 others(7): Show |
10 | 244 | 0.0410 | 9 | c.330 others(28): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | |||||||
CFAP47_chrX_35914734_36390317 | 35960380 | G | GAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01952.hp1 HG02109.hp1 HG02976.hp2 others(5): Show |
a0002a0005a0011others(2): Show | a0002c0002a0005c0005a0005c0015others(3): Show | a0002c0002t0001a0005c0005t0001a0005c0015t0001others(3): Show | a0002c0002t0001g0152 a0005c0005t0001g0012 a0005c0005t0001g0013 others(5): Show |
8 | 94 | 0.0851 | 9 | c.141 others(28): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 8/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 36037338 | T | TTTGTTGT others(2): Show |
intron_variant | MODIFIER | HG03041.hp1 NA18940.hp1 NA19240.hp2 |
a0017a0046 | a0017c0016a0046c0038 | a0017c0016t0001a0046c0038t0001 | a0017c0016t0001g0192 a0017c0016t0001g0198 a0046c0038t0001g0020 |
3 | 123 | 0.0244 | 9 | c.381 others(28): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 24/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CFAP52_chr17_9571642_9648447 | 9589801 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00621.hp2 others(70): Show |
a0001a0002a0005 | a0001c0002a0001c0005a0002c0001others(2): Show | a0001c0002t0001a0001c0005t0004a0002c0001t0001others(4): Show | a0001c0002t0001g0026 a0001c0002t0001g0035 a0001c0002t0001g0049 others(69): Show |
73 | 77 | 0.9481 | 9 | c.407 others(26): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CFAP52_chr17_9571642_9648447 | 9598760 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01978.hp1 HG02135.hp1 others(8): Show |
a0001a0002 | a0001c0002a0001c0005a0002c0001 | a0001c0002t0001a0001c0005t0001a0002c0001t0002 | a0001c0002t0001g0012 a0001c0002t0001g0074 a0001c0002t0001g0077 others(8): Show |
11 | 136 | 0.0809 | 9 | c.636 others(24): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CFAP52_chr17_9571642_9648447 | 9636183 | G | GAAAGAAA others(2): Show |
intron_variant | MODIFIER | HG02027.hp1 HG02486.hp2 HG02818.hp2 others(4): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0001 | a0001c0002t0001g0009 a0001c0002t0001g0030 a0001c0002t0001g0045 others(4): Show |
7 | 313 | 0.0224 | 9 | c.147 others(26): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96485709 | C | CCCCTCCC others(2): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(169): Show |
a0001a0002a0003others(42): Show | a0001c0001a0001c0086a0002c0003others(65): Show | a0001c0001t0001a0001c0086t0001a0002c0003t0001others(68): Show | a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0086t0001g0146 others(169): Show |
172 | 266 | 0.6466 | 9 | c.-39 others(20): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 3867 | chr12 | TogoVar | |||||||
CFAP54_chr12_96484577_96880555 | 96621875 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01952.hp2 HG02071.hp2 others(8): Show |
a0002a0005a0020others(2): Show | a0002c0003a0002c0007a0005c0020others(3): Show | a0002c0003t0001a0002c0003t0002a0002c0007t0001others(4): Show | a0002c0003t0001g0169 a0002c0003t0001g0170 a0002c0003t0001g0175 others(8): Show |
11 | 34 | 0.3235 | 9 | c.377 others(26): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 27/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96647472 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02109.hp2 HG02896.hp1 others(4): Show |
a0001a0004a0006 | a0001c0001a0004c0011a0006c0006 | a0001c0001t0001a0004c0011t0001a0006c0006t0001 | a0001c0001t0001g0029 a0001c0001t0001g0054 a0001c0001t0001g0064 others(4): Show |
7 | 80 | 0.0875 | 9 | c.454 others(26): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 33/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96654832 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01168.hp1 HG01496.hp2 others(2): Show |
a0008a0011a0017others(1): Show | a0008c0008a0011c0013a0017c0045others(1): Show | a0008c0008t0001a0011c0013t0001a0017c0045t0001others(1): Show | a0008c0008t0001g0205 a0011c0013t0001g0185 a0011c0013t0001g0188 others(2): Show |
5 | 119 | 0.0420 | 9 | c.510 others(28): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 36/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96709701 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00609.hp2 others(36): Show |
a0002a0003a0004others(14): Show | a0002c0003a0002c0058a0003c0002others(20): Show | a0002c0003t0001a0002c0058t0001a0003c0002t0001others(20): Show | a0002c0003t0001g0121 a0002c0003t0001g0122 a0002c0003t0001g0129 others(36): Show |
39 | 142 | 0.2746 | 9 | c.672 others(26): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 48/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96755666 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01123.hp2 HG01358.hp1 others(15): Show |
a0005a0055a0057 | a0005c0004a0005c0015a0005c0020others(3): Show | a0005c0004t0001a0005c0015t0001a0005c0020t0001others(3): Show | a0005c0004t0001g0009 a0005c0004t0001g0011 a0005c0004t0001g0012 others(15): Show |
18 | 157 | 0.1147 | 9 | c.784 others(26): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 56/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96798447 | T | TAACTCTC others(2): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01123.hp2 HG01358.hp1 others(17): Show |
a0005a0055a0057 | a0005c0004a0005c0015a0005c0020others(3): Show | a0005c0004t0001a0005c0015t0001a0005c0020t0001others(3): Show | a0005c0004t0001g0009 a0005c0004t0001g0011 a0005c0004t0001g0012 others(17): Show |
20 | 266 | 0.0752 | 9 | c.885 others(28): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 63/67 | chr12 | TogoVar | |||||||
CFAP57_chr1_43167330_43259358 | 43180239 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01978.hp2 NA18942.hp1 others(1): Show |
a0003 | a0003c0002a0003c0004 | a0003c0002t0001a0003c0004t0001 | a0003c0002t0001g0257 a0003c0004t0001g0255 a0003c0004t0001g0256 others(1): Show |
4 | 243 | 0.0165 | 9 | c.158 others(26): Show |
CFAP57 | ENSG00000243710.8 | transcript | ENST00000372492.9 | protein_coding | 2/22 | chr1 | TogoVar | |||||||
CFAP61_chr20_20047532_20365698 | 20084401 | C | CCTGCTGC others(2): Show |
intron_variant | MODIFIER | HG01169.hp2 HG01884.hp1 HG02145.hp1 others(7): Show |
a0001a0004a0012others(2): Show | a0001c0001a0001c0039a0004c0043others(3): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(5): Show | a0001c0001t0003g0124 a0001c0001t0005g0126 a0001c0001t0005g0129 others(7): Show |
10 | 61 | 0.1639 | 9 | c.567 others(26): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 6/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20294937 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG01993.hp2 HG02257.hp2 HG02300.hp2 others(1): Show |
a0001a0023 | a0001c0001a0001c0003a0023c0029 | a0001c0001t0002a0001c0003t0001a0023c0029t0003 | a0001c0001t0002g0235 a0001c0003t0001g0165 a0001c0003t0001g0196 others(1): Show |
4 | 97 | 0.0412 | 9 | c.321 others(28): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 24/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20320403 | A | AATATATT others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(33): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0006others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(15): Show | a0001c0001t0001g0206 a0001c0001t0001g0212 a0001c0001t0001g0228 others(33): Show |
36 | 228 | 0.1579 | 9 | c.342 others(30): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20320471 | T | TATATATT others(2): Show |
intron_variant | MODIFIER | HG01361.hp2 HG02145.hp1 HG02486.hp2 others(2): Show |
a0001a0018a0023 | a0001c0001a0001c0039a0018c0042others(1): Show | a0001c0001t0003a0001c0039t0003a0018c0042t0003others(1): Show | a0001c0001t0003g0119 a0001c0001t0003g0139 a0001c0039t0003g0125 others(2): Show |
5 | 234 | 0.0214 | 9 | c.342 others(30): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20320528 | T | TATATATG others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00558.hp2 others(63): Show |
a0001a0002a0005others(6): Show | a0001c0001a0001c0003a0001c0006others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0028 a0001c0001t0001g0078 a0001c0001t0001g0079 others(63): Show |
66 | 227 | 0.2907 | 9 | c.342 others(30): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP77_chr9_132405211_132578319 | 132521778 | T | TTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00609.hp1 others(35): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0057 a0001c0001t0001g0079 a0001c0001t0001g0080 others(35): Show |
38 | 164 | 0.2317 | 9 | c.525 others(28): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP77_chr9_132405211_132578319 | 132533466 | G | GCTGCGTC others(2): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02257.hp2 HG02615.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0002 | a0001c0001t0001g0137 a0001c0001t0001g0153 a0001c0001t0001g0174 others(10): Show |
13 | 320 | 0.0406 | 9 | c.525 others(26): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP91_chr3_119698022_119772102 | 119722195 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02723.hp2 HG02965.hp2 others(3): Show |
a0005a0010 | a0005c0008a0010c0021 | a0005c0008t0007a0010c0021t0007 | a0005c0008t0007g0004 a0005c0008t0007g0351 a0005c0008t0007g0352 others(1): Show |
6 | 382 | 0.0157 | 9 | c.683 others(26): Show |
CFAP91 | ENSG00000183833.16 | transcript | ENST00000273390.9 | protein_coding | 6/17 | chr3 | TogoVar | |||||||
CFAP95_chr9_69815817_69911227 | 69843511 | T | TCCTCCCC others(2): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01070.hp2 HG01071.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0008 | a0001c0001t0001a0002c0008t0001 | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 others(8): Show |
12 | 365 | 0.0329 | 9 | c.153 others(26): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP97D2_chr13_114174257_114228085 | 114222561 | A | ACAGATTC others(2): Show |
3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00639.hp1 others(42): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006a0001c0001t0007 | a0001c0001t0005g0018 a0001c0001t0005g0019 a0001c0001t0005g0020 others(36): Show |
45 | 398 | 0.1131 | 9 | c.*54 others(16): Show |
CFAP97D2 | ENSG00000283361.3 | transcript | ENST00000636692.2 | protein_coding | 4/4 | 55 | chr13 | TogoVar | ||||||
CFAP97_chr4_185154665_185209000 | 185198453 | A | AAAAAGAA others(2): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02572.hp2 HG02615.hp1 others(4): Show |
a0001 | a0001c0004a0001c0007 | a0001c0004t0010a0001c0004t0014a0001c0007t0011 | a0001c0004t0010g0143 a0001c0004t0010g0144 a0001c0004t0010g0146 others(3): Show |
7 | 187 | 0.0374 | 9 | c.-17 others(26): Show |
CFAP97 | ENSG00000164323.15 | transcript | ENST00000458385.7 | protein_coding | 1/4 | chr4 | TogoVar | |||||||
CFAP99_chr4_2413955_2468002 | 2446368 | G | GTTATTAT others(2): Show |
intron_variant | MODIFIER | HG02135.hp1 HG02258.hp1 HG02280.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001a0001c0003t0002 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0011 others(4): Show |
10 | 53 | 0.1887 | 9 | c.642 others(26): Show |
CFAP99 | ENSG00000206113.12 | transcript | ENST00000635017.2 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFHR4_chr1_196883052_196923633 | 196894886 | T | TAACAACA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(50): Show |
a0001a0002a0012 | a0001c0001a0002c0002a0012c0018 | a0001c0001t0001a0002c0002t0001a0012c0018t0001 | a0001c0001t0001g0071 a0002c0002t0001g0002 a0002c0002t0001g0005 others(21): Show |
53 | 344 | 0.1541 | 9 | c.58+ others(24): Show |
CFHR4 | ENSG00000134365.15 | transcript | ENST00000608469.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFHR4_chr1_196883052_196923633 | 196894889 | A | AAACAACA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(269): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0010a0002c0002others(9): Show | a0001c0001t0001a0001c0010t0001a0002c0002t0001others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(133): Show |
272 | 275 | 0.9891 | 9 | c.58+ others(24): Show |
CFHR4 | ENSG00000134365.15 | transcript | ENST00000608469.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |