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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CERS4_chr19_8204370_8267421 | 8231851 | A | ATTTTTTT others(25): Show |
intron_variant | MODIFIER | HG01952.hp1 HG02280.hp1 HG03453.hp2 |
a0001 | a0001c0001a0001c0012 | a0001c0001t0002a0001c0012t0002 | a0001c0001t0002g0141 a0001c0001t0002g0239 a0001c0012t0002g0140 |
3 | 42 | 0.0714 | 32 | c.-1- others(49): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CERS4_chr19_8204370_8267421 | 8266863 | C | CAAAAAAA others(25): Show |
downstream_gene_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0130 | 1 | 55 | 0.0182 | 32 | c.*47 others(43): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 4443 | chr19 | TogoVar | |||||||
CERS4_chr19_8204370_8267421 | 8267294 | C | CAAAAAAA others(25): Show |
downstream_gene_variant | MODIFIER | NA18963.hp2 NA19057.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0241 a0001c0001t0003g0013 |
2 | 109 | 0.0183 | 32 | c.*51 others(43): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 4874 | chr19 | TogoVar | |||||||
CERS5_chr12_50124289_50172369 | 50156420 | C | CTATATAT others(25): Show |
intron_variant | MODIFIER | HG01891.hp2 HG03209.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0005 | a0001c0001t0001g0016 a0001c0004t0005g0011 |
2 | 142 | 0.0141 | 32 | c.197 others(51): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 1/9 | chr12 | TogoVar | |||||||
CERS5_chr12_50124289_50172369 | 50156437 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG02080.hp2 NA18952.hp2 |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0063 a0002c0003t0003g0067 |
2 | 275 | 0.0073 | 32 | c.197 others(51): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 1/9 | chr12 | TogoVar | |||||||
CERS6_chr2_168451272_168780134 | 168559733 | T | TTATATAT others(25): Show |
intron_variant | MODIFIER | HG02132.hp1 HG03130.hp2 HG03704.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0175 others(5): Show |
8 | 32 | 0.2500 | 32 | c.277 others(49): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 2/9 | chr2 | TogoVar | |||||||
CERS6_chr2_168451272_168780134 | 168645142 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 88 | 0.0114 | 32 | c.465 others(51): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CERT1_chr5_75372775_75516629 | 75393602 | T | TAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03654.hp2 NA19009.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0022 | a0001c0001t0002g0136 a0001c0001t0002g0192 a0001c0001t0002g0227 others(1): Show |
4 | 12 | 0.3333 | 32 | c.118 others(51): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 11/16 | chr5 | TogoVar | |||||||
CES1_chr16_55797851_55838096 | 55835677 | G | GAGAGAGG others(25): Show |
upstream_gene_variant | MODIFIER | HG03195.hp2 HG03490.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0029 |
2 | 16 | 0.1250 | 32 | c.-26 others(43): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 2582 | chr16 | TogoVar | |||||||
CES1_chr16_55797851_55838096 | 55835677 | G | GAGGAAGG others(25): Show |
upstream_gene_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 15 | 0.0667 | 32 | c.-26 others(43): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 2582 | chr16 | TogoVar | |||||||
CES5A_chr16_55841154_55880373 | 55854531 | C | CTTTCTGT others(25): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02055.hp1 HG02109.hp1 others(18): Show |
a0001a0002a0003others(4): Show | a0001c0002a0002c0003a0002c0005others(7): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0005others(10): Show | a0001c0002t0001g0350 a0001c0002t0001g0355 a0001c0002t0001g0358 others(17): Show |
21 | 296 | 0.0709 | 32 | c.112 others(51): Show |
CES5A | ENSG00000159398.16 | transcript | ENST00000290567.14 | protein_coding | 9/12 | chr16 | TogoVar | |||||||
CETN1_chr18_575380_587114 | 576446 | G | GAGGAAGG others(25): Show |
upstream_gene_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 118 | 0.0085 | 32 | c.-39 others(43): Show |
CETN1 | ENSG00000177143.5 | transcript | ENST00000327228.5 | protein_coding | 3933 | chr18 | TogoVar | |||||||
CFAP210_chr2_169640425_169699405 | 169653029 | A | AAAAAAAA others(25): Show |
intron_variant | MODIFIER | NA19006.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0110 | 1 | 203 | 0.0049 | 32 | c.959 others(49): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 6/8 | chr2 | TogoVar | |||||||
CFAP221_chr2_119539449_119661661 | 119552287 | T | TAATAAAT others(25): Show |
intron_variant | MODIFIER | HG02976.hp2 NA19085.hp2 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0115 a0003c0003t0001g0114 |
2 | 152 | 0.0132 | 32 | c.240 others(49): Show |
CFAP221 | ENSG00000163075.13 | transcript | ENST00000413369.8 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CFAP298_chr21_32594354_32617377 | 32611338 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0186 | 1 | 398 | 0.0025 | 32 | c.139 others(47): Show |
CFAP298 | ENSG00000159079.19 | transcript | ENST00000290155.8 | protein_coding | 1/6 | chr21 | TogoVar | |||||||
CFAP299_chr4_80330730_80968750 | 80364089 | A | AACACACA others(25): Show |
intron_variant | MODIFIER | HG00423.hp2 HG02040.hp1 HG02280.hp1 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0007 a0001c0001t0001g0029 a0001c0004t0001g0050 others(2): Show |
5 | 24 | 0.2083 | 32 | c.242 others(49): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80390693 | G | GTGTATAT others(25): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00642.hp1 HG00642.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 others(9): Show |
12 | 96 | 0.1250 | 32 | c.242 others(51): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80390733 | A | ATGTATAT others(25): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 96 | 0.0104 | 32 | c.242 others(51): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80390756 | C | CATATGTA others(25): Show |
intron_variant | MODIFIER | HG00423.hp2 HG02735.hp2 HG03139.hp2 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0002a0001c0004t0001 | a0001c0003t0002g0092 a0001c0004t0001g0094 a0001c0004t0001g0095 |
3 | 77 | 0.0390 | 32 | c.242 others(51): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80559286 | G | GCTTTTGG others(25): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01168.hp2 HG02258.hp2 others(9): Show |
a0001a0002 | a0001c0004a0002c0005a0002c0007 | a0001c0004t0001a0002c0005t0001a0002c0007t0001 | a0001c0004t0001g0022 a0001c0004t0001g0050 a0001c0004t0001g0061 others(9): Show |
12 | 96 | 0.1250 | 32 | c.243 others(51): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
CFAP299_chr4_80330730_80968750 | 80799658 | T | TTATATAT others(25): Show |
intron_variant | MODIFIER | NA18983.hp1 NA18984.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 a0001c0001t0001g0080 |
2 | 40 | 0.0500 | 32 | c.334 others(51): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80799671 | A | ATATATAA others(25): Show |
intron_variant | MODIFIER | HG01109.hp2 HG03017.hp2 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0001a0002c0002t0001 | a0001c0003t0001g0035 a0002c0002t0001g0001 |
2 | 56 | 0.0357 | 32 | c.334 others(51): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80799671 | A | ATATATAA others(25): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01168.hp2 HG01243.hp2 others(5): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0001a0001c0003t0002a0001c0004t0001 | a0001c0003t0001g0081 a0001c0003t0001g0083 a0001c0003t0001g0086 others(5): Show |
8 | 62 | 0.1290 | 32 | c.334 others(51): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80902467 | T | TATATATG others(25): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0038 | 1 | 96 | 0.0104 | 32 | c.476 others(51): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP410_chr21_44323944_44344390 | 44334517 | A | ACCCCCCC others(25): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00597.hp1 HG00741.hp1 others(26): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0017others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(4): Show | a0001c0001t0001g0020 a0001c0001t0001g0027 a0001c0001t0001g0082 others(21): Show |
29 | 210 | 0.1381 | 32 | c.143 others(49): Show |
CFAP410 | ENSG00000160226.16 | transcript | ENST00000339818.9 | protein_coding | 3/6 | chr21 | TogoVar | |||||||
CFAP44_chr3_113281930_113446493 | 113367004 | G | GTGGAGGG others(25): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0025 | a0025c0042 | a0025c0042t0078 | a0025c0042t0078g0318 | 1 | 346 | 0.0029 | 32 | c.244 others(49): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 18/34 | chr3 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132823595 | T | TGCGCTGA others(25): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0009 | a0009c0043 | a0009c0043t0001 | a0009c0043t0001g0209 | 1 | 244 | 0.0041 | 32 | c.711 others(51): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132826165 | C | CAGAGCCA others(25): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0002 | a0002c0045 | a0002c0045t0001 | a0002c0045t0001g0191 | 1 | 175 | 0.0057 | 32 | c.711 others(51): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132887942 | A | ACCTCTCT others(25): Show |
intron_variant | MODIFIER | HG00741.hp1 HG03209.hp1 |
a0020 | a0020c0024 | a0020c0024t0001 | a0020c0024t0001g0215 a0020c0024t0001g0216 |
2 | 197 | 0.0102 | 32 | c.330 others(51): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132888467 | A | ACCCCTGC others(25): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0016 | a0016c0026 | a0016c0026t0002 | a0016c0026t0002g0099 | 1 | 184 | 0.0054 | 32 | c.330 others(51): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132888510 | A | ACCCCTGC others(25): Show |
intron_variant | MODIFIER | HG04204.hp2 NA18967.hp2 |
a0002a0062 | a0002c0002a0062c0051 | a0002c0002t0001a0062c0051t0001 | a0002c0002t0001g0170 a0062c0051t0001g0157 |
2 | 174 | 0.0115 | 32 | c.330 others(51): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132912542 | T | TCTCTCTC others(25): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(79): Show |
a0002a0003a0004others(22): Show | a0002c0002a0002c0003a0002c0023others(32): Show | a0002c0002t0001a0002c0003t0001a0002c0023t0001others(33): Show | a0002c0002t0001g0126 a0002c0002t0001g0134 a0002c0002t0001g0137 others(78): Show |
82 | 205 | 0.4000 | 32 | c.249 others(49): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 19/57 | chr10 | TogoVar | |||||||
CFAP47_chrX_35914734_36390317 | 35924181 | G | GTACATGT others(25): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0024 | a0024c0025 | a0024c0025t0004 | a0024c0025t0004g0181 | 1 | 210 | 0.0048 | 32 | c.250 others(49): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 1/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CFAP52_chr17_9571642_9648447 | 9631024 | A | AAGAGAGA others(25): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0243 | 1 | 239 | 0.0042 | 32 | c.117 others(51): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CFAP52_chr17_9571642_9648447 | 9631052 | G | GAGAGAGA others(25): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0003 | 1 | 78 | 0.0128 | 32 | c.117 others(51): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CFAP52_chr17_9571642_9648447 | 9631052 | G | GAGAGAGA others(25): Show |
intron_variant | MODIFIER | HG03516.hp1 HG03516.hp2 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0001 | a0001c0002t0001g0027 a0002c0001t0001g0083 |
2 | 79 | 0.0253 | 32 | c.117 others(51): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CFAP52_chr17_9571642_9648447 | 9631052 | G | GAGAGAGA others(25): Show |
intron_variant | MODIFIER | HG01069.hp2 HG06807.hp1 NA18945.hp1 |
a0001a0005 | a0001c0002a0005c0009 | a0001c0002t0001a0005c0009t0001 | a0001c0002t0001g0084 a0001c0002t0001g0188 a0005c0009t0001g0304 |
3 | 80 | 0.0375 | 32 | c.117 others(51): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CFAP52_chr17_9571642_9648447 | 9631052 | G | GAGAGAGA others(25): Show |
intron_variant | MODIFIER | HG02083.hp1 HG03130.hp2 NA18959.hp2 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0001 | a0001c0002t0001g0026 a0001c0002t0001g0123 a0002c0001t0001g0094 |
3 | 80 | 0.0375 | 32 | c.117 others(51): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CFAP52_chr17_9571642_9648447 | 9631052 | G | GAGAGAGA others(25): Show |
intron_variant | MODIFIER | HG01255.hp2 NA19054.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0209 a0001c0002t0001g0298 |
2 | 79 | 0.0253 | 32 | c.117 others(51): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CFAP53_chr18_50222193_50271495 | 50237329 | A | AAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0016 | 1 | 51 | 0.0196 | 32 | c.131 others(51): Show |
CFAP53 | ENSG00000172361.6 | transcript | ENST00000398545.5 | protein_coding | 7/7 | chr18 | TogoVar | |||||||
CFAP53_chr18_50222193_50271495 | 50237329 | A | AAAAAATA others(25): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00621.hp1 HG02258.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0013 a0001c0001t0001g0048 a0001c0001t0001g0196 others(1): Show |
4 | 54 | 0.0741 | 32 | c.131 others(51): Show |
CFAP53 | ENSG00000172361.6 | transcript | ENST00000398545.5 | protein_coding | 7/7 | chr18 | TogoVar | |||||||
CFAP57_chr1_43167330_43259358 | 43180223 | T | TTATATAT others(25): Show |
intron_variant | MODIFIER | HG01928.hp1 HG03239.hp1 |
a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0069 a0002c0005t0001g0070 |
2 | 246 | 0.0081 | 32 | c.158 others(49): Show |
CFAP57 | ENSG00000243710.8 | transcript | ENST00000372492.9 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFAP57_chr1_43167330_43259358 | 43180238 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0002 | a0002c0012 | a0002c0012t0001 | a0002c0012t0001g0023 | 1 | 303 | 0.0033 | 32 | c.158 others(49): Show |
CFAP57 | ENSG00000243710.8 | transcript | ENST00000372492.9 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFAP68_chr11_111874541_111890975 | 111886738 | A | ATATATAT others(25): Show |
downstream_gene_variant | MODIFIER | HG02698.hp1 HG03704.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 a0001c0001t0002g0023 |
2 | 390 | 0.0051 | 32 | c.*28 others(43): Show |
CFAP68 | ENSG00000137720.8 | transcript | ENST00000260276.8 | protein_coding | 764 | chr11 | TogoVar | |||||||
CFAP68_chr11_111874541_111890975 | 111886740 | A | ATATATAT others(25): Show |
downstream_gene_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 389 | 0.0026 | 32 | c.*28 others(43): Show |
CFAP68 | ENSG00000137720.8 | transcript | ENST00000260276.8 | protein_coding | 766 | chr11 | TogoVar | |||||||
CFAP68_chr11_111874541_111890975 | 111886762 | A | ATATATAT others(25): Show |
downstream_gene_variant | MODIFIER | HG00621.hp2 HG02148.hp2 HG02738.hp2 others(5): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0005 | a0001c0001t0001a0001c0001t0007a0002c0003t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0007g0001 a0002c0003t0001g0001 others(1): Show |
8 | 109 | 0.0734 | 32 | c.*28 others(43): Show |
CFAP68 | ENSG00000137720.8 | transcript | ENST00000260276.8 | protein_coding | 788 | chr11 | TogoVar | |||||||
CFAP68_chr11_111874541_111890975 | 111886762 | A | ATATATAT others(25): Show |
downstream_gene_variant | MODIFIER | NA18988.hp1 | a0002 | a0002c0003 | a0002c0003t0012 | a0002c0003t0012g0001 | 1 | 102 | 0.0098 | 32 | c.*28 others(43): Show |
CFAP68 | ENSG00000137720.8 | transcript | ENST00000260276.8 | protein_coding | 788 | chr11 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1928187 | G | GGGAGGAA others(25): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0024 | a0024c0100 | a0024c0100t0002 | a0024c0100t0002g0028 | 1 | 276 | 0.0036 | 32 | c.338 others(49): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 27/38 | chr1 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1928215 | C | CCCTTGGG others(25): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0003 | a0003c0047 | a0003c0047t0009 | a0003c0047t0009g0270 | 1 | 276 | 0.0036 | 32 | c.338 others(49): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 27/38 | chr1 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1928267 | C | CCGGGAAG others(25): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0003 | a0003c0084 | a0003c0084t0002 | a0003c0084t0002g0051 | 1 | 276 | 0.0036 | 32 | c.338 others(49): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 27/38 | chr1 | TogoVar |