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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CEP128_chr14_80491479_80946738 | 80561896 | C | CTATATAT others(29): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0054 | 1 | 66 | 0.0152 | 36 | c.285 others(55): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 20/24 | chr14 | TogoVar | |||||||
CEP131_chr17_81184596_81227965 | 81209737 | C | CGAGGATC others(29): Show |
intron_variant | MODIFIER | NA19089.hp2 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0248 | 1 | 382 | 0.0026 | 36 | c.178 others(51): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 2/25 | chr17 | TogoVar | |||||||
CEP295NL_chr17_78885579_78908201 | 78904091 | A | ATGTGTGT others(29): Show |
upstream_gene_variant | MODIFIER | HG00621.hp1 HG00741.hp2 HG01243.hp2 others(19): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0010a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0010t0002others(6): Show | a0001c0001t0001g0007 a0001c0001t0001g0038 a0001c0001t0001g0199 others(13): Show |
22 | 269 | 0.0818 | 36 | c.-10 others(47): Show |
CEP295NL | ENSG00000178404.11 | transcript | ENST00000322630.3 | protein_coding | 891 | chr17 | TogoVar | |||||||
CEP43_chr6_166994397_167057718 | 167042814 | T | TTGTGTGT others(29): Show |
3_prime_UTR_variant | MODIFIER | HG00738.hp1 HG01175.hp1 HG01257.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0054a0001c0001t0182a0001c0001t0197 | a0001c0001t0054g0027 a0001c0001t0182g0004 a0001c0001t0197g0143 |
4 | 16 | 0.2500 | 36 | c.*28 others(47): Show |
CEP43 | ENSG00000213066.14 | transcript | ENST00000366847.9 | protein_coding | 13/13 | 2862 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEP63_chr3_134481057_134570031 | 134538531 | G | GTATATAT others(29): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01099.hp2 HG03239.hp2 others(6): Show |
a0002 | a0002c0002a0002c0005 | a0002c0002t0001a0002c0005t0001 | a0002c0002t0001g0214 a0002c0002t0001g0241 a0002c0002t0001g0253 others(6): Show |
9 | 36 | 0.2500 | 36 | c.555 others(53): Show |
CEP63 | ENSG00000182923.20 | transcript | ENST00000675561.1 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CEP63_chr3_134481057_134570031 | 134538531 | G | GTATATAT others(29): Show |
intron_variant | MODIFIER | HG01258.hp1 HG02015.hp2 NA18966.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0022 | a0002c0002t0001g0268 a0002c0002t0001g0298 a0002c0002t0022g0246 |
3 | 30 | 0.1000 | 36 | c.555 others(53): Show |
CEP63 | ENSG00000182923.20 | transcript | ENST00000675561.1 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CEP78_chr9_78231075_78284690 | 78284298 | T | TCCATTTT others(29): Show |
downstream_gene_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0233 | 1 | 338 | 0.0030 | 36 | c.*13 others(49): Show |
CEP78 | ENSG00000148019.14 | transcript | ENST00000643273.2 | protein_coding | 4609 | chr9 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118500451 | A | AGCACCTA others(29): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(166): Show |
a0002a0003a0005others(4): Show | a0002c0002a0002c0012a0003c0003others(5): Show | a0002c0002t0002a0002c0002t0005a0002c0002t0014others(22): Show | a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0175 others(166): Show |
169 | 300 | 0.5633 | 36 | c.125 others(55): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 5/12 | chr6 | TogoVar | |||||||
CEP85_chr1_26229200_26283808 | 26272617 | A | ATTTTTTT others(29): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0272 | 1 | 194 | 0.0052 | 36 | c.179 others(53): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CERKL_chr2_181531672_181662105 | 181609533 | T | TAAAAAAA others(29): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0113 | 1 | 34 | 0.0294 | 36 | c.239 others(53): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
CERS4_chr19_8204370_8267421 | 8216685 | G | GAAATTTC others(29): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0228 | 1 | 416 | 0.0024 | 36 | c.-2+ others(51): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CERS5_chr12_50124289_50172369 | 50156420 | C | CTATATAT others(29): Show |
intron_variant | MODIFIER | HG02559.hp2 HG03688.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0014a0001c0004t0005 | a0001c0001t0014g0171 a0001c0004t0005g0010 |
2 | 142 | 0.0141 | 36 | c.197 others(55): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 1/9 | chr12 | TogoVar | |||||||
CERS6_chr2_168451272_168780134 | 168559733 | T | TTATATAT others(29): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00738.hp1 HG02970.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0007a0001c0001t0011a0001c0001t0025others(1): Show | a0001c0001t0007g0013 a0001c0001t0011g0080 a0001c0001t0025g0021 others(1): Show |
4 | 28 | 0.1429 | 36 | c.277 others(53): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 2/9 | chr2 | TogoVar | |||||||
CERS6_chr2_168451272_168780134 | 168559733 | T | TTTTATAT others(29): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0115 | 1 | 25 | 0.0400 | 36 | c.277 others(53): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 2/9 | chr2 | TogoVar | |||||||
CES1_chr16_55797851_55838096 | 55830819 | A | AAGGAAGG others(29): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0081 | 1 | 65 | 0.0154 | 36 | c.53- others(51): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
CFAP144_chr1_43142904_43161396 | 43145840 | A | AATTATGG others(29): Show |
upstream_gene_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 394 | 0.0025 | 36 | c.-21 others(47): Show |
CFAP144 | ENSG00000186973.11 | transcript | ENST00000335282.5 | protein_coding | 2063 | chr1 | TogoVar | |||||||
CFAP221_chr2_119539449_119661661 | 119552749 | A | ATTTCTTT others(29): Show |
intron_variant | MODIFIER | NA18975.hp1 NA18980.hp2 |
a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0037 a0004c0005t0002g0038 |
2 | 223 | 0.0090 | 36 | c.240 others(53): 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(29): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 398 | 0.0025 | 36 | c.139 others(51): Show |
CFAP298 | ENSG00000159079.19 | transcript | ENST00000290155.8 | protein_coding | 1/6 | chr21 | TogoVar | |||||||
CFAP299_chr4_80330730_80968750 | 80364089 | A | AACACACA others(29): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 20 | 0.0500 | 36 | c.242 others(53): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80364089 | A | AACACACA others(29): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0084 | 1 | 20 | 0.0500 | 36 | c.242 others(53): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80364089 | A | AACACACA others(29): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02976.hp2 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0090 a0001c0003t0002g0091 |
2 | 21 | 0.0952 | 36 | c.242 others(53): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80782556 | G | GATATATA others(29): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0030 | 1 | 89 | 0.0112 | 36 | c.334 others(55): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80782637 | T | TATACATA others(29): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0050 | 1 | 96 | 0.0104 | 36 | c.334 others(55): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80782666 | T | TATATAAT others(29): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 96 | 0.0104 | 36 | c.334 others(55): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80799168 | T | TTATATAT others(29): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00639.hp1 others(15): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 others(15): Show |
18 | 92 | 0.1957 | 36 | c.334 others(55): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80799238 | T | TTATATAT others(29): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0082 | 1 | 88 | 0.0114 | 36 | c.334 others(55): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP410_chr21_44323944_44344390 | 44334517 | A | ACCCCCCC others(29): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG00639.hp2 others(19): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0002a0002c0003t0002others(2): Show | a0001c0001t0001g0006 a0001c0001t0001g0072 a0001c0001t0001g0073 others(12): Show |
22 | 203 | 0.1084 | 36 | c.143 others(53): Show |
CFAP410 | ENSG00000160226.16 | transcript | ENST00000339818.9 | protein_coding | 3/6 | chr21 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132887929 | T | TCCTCCCT others(29): Show |
intron_variant | MODIFIER | NA19056.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0188 | 1 | 244 | 0.0041 | 36 | c.330 others(55): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132927297 | A | ACGTCCCG others(29): Show |
intron_variant | MODIFIER | HG01169.hp1 HG02486.hp2 HG02615.hp2 others(4): Show |
a0010a0021a0050others(3): Show | a0010c0072a0021c0033a0050c0071others(3): Show | a0010c0072t0002a0021c0033t0001a0021c0033t0004others(4): Show | a0010c0072t0002g0004 a0021c0033t0001g0237 a0021c0033t0004g0238 others(4): Show |
7 | 234 | 0.0299 | 36 | c.967 others(51): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 9/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132927373 | C | CCCGGGGA others(29): Show |
intron_variant | MODIFIER | HG01257.hp2 HG02280.hp2 NA18906.hp1 |
a0012a0048a0064 | a0012c0025a0048c0069a0064c0109 | a0012c0025t0002a0048c0069t0002a0064c0109t0002 | a0012c0025t0002g0014 a0048c0069t0002g0015 a0064c0109t0002g0104 |
3 | 244 | 0.0123 | 36 | c.967 others(51): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 9/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132935489 | T | TGATCTCC others(29): Show |
intron_variant | MODIFIER | HG01169.hp1 HG02486.hp2 HG03017.hp1 others(1): Show |
a0021a0054a0057 | a0021c0033a0054c0105a0057c0104 | a0021c0033t0001a0021c0033t0004a0054c0105t0001others(1): Show | a0021c0033t0001g0237 a0021c0033t0004g0238 a0054c0105t0001g0239 others(1): Show |
4 | 243 | 0.0165 | 36 | c.756 others(51): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 7/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132935974 | A | ACATCCAA others(29): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02572.hp1 HG03486.hp1 others(2): Show |
a0008a0016a0022others(1): Show | a0008c0009a0016c0026a0022c0081others(1): Show | a0008c0009t0002a0016c0026t0002a0022c0081t0002others(1): Show | a0008c0009t0002g0101 a0016c0026t0002g0097 a0016c0026t0002g0099 others(2): Show |
5 | 238 | 0.0210 | 36 | c.755 others(51): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 7/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132936163 | A | ACACTGCG others(29): Show |
intron_variant | MODIFIER | HG01169.hp1 HG02486.hp2 HG03017.hp1 others(1): Show |
a0021a0054a0057 | a0021c0033a0054c0105a0057c0104 | a0021c0033t0001a0021c0033t0004a0054c0105t0001others(1): Show | a0021c0033t0001g0237 a0021c0033t0004g0238 a0054c0105t0001g0239 others(1): Show |
4 | 242 | 0.0165 | 36 | c.755 others(51): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 7/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132936597 | G | GTGATCTC others(29): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0010 | a0010c0072 | a0010c0072t0002 | a0010c0072t0002g0004 | 1 | 242 | 0.0041 | 36 | c.755 others(51): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 7/57 | chr10 | TogoVar | |||||||
CFAP52_chr17_9571642_9648447 | 9631052 | G | GAGAGAGA others(29): Show |
intron_variant | MODIFIER | HG03453.hp1 NA18999.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0086 a0001c0002t0001g0118 |
2 | 79 | 0.0253 | 36 | c.117 others(55): 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(29): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03139.hp2 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0001 | a0001c0002t0001g0022 a0002c0001t0001g0048 |
2 | 79 | 0.0253 | 36 | c.117 others(55): 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(29): Show |
intron_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0130 | 1 | 78 | 0.0128 | 36 | c.117 others(55): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CFAP57_chr1_43167330_43259358 | 43180223 | T | TTATATAT others(29): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0072 | 1 | 245 | 0.0041 | 36 | c.158 others(53): Show |
CFAP57 | ENSG00000243710.8 | transcript | ENST00000372492.9 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFAP57_chr1_43167330_43259358 | 43180223 | T | TTTTATAT others(29): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0002 | a0002c0035 | a0002c0035t0001 | a0002c0035t0001g0025 | 1 | 245 | 0.0041 | 36 | c.158 others(53): Show |
CFAP57 | ENSG00000243710.8 | transcript | ENST00000372492.9 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1955018 | A | AGGAAGTG others(29): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0011 | a0011c0014 | a0011c0014t0001 | a0011c0014t0001g0041 | 1 | 88 | 0.0114 | 36 | c.217 others(53): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 18/38 | chr1 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1955018 | A | AGGAAGTG others(29): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02145.hp1 HG03130.hp1 others(1): Show |
a0013a0023a0028others(1): Show | a0013c0051a0023c0040a0028c0060others(1): Show | a0013c0051t0001a0023c0040t0001a0028c0060t0001others(1): Show | a0013c0051t0001g0123 a0023c0040t0001g0134 a0028c0060t0001g0021 others(1): Show |
4 | 91 | 0.0440 | 36 | c.217 others(53): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 18/38 | chr1 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1955080 | C | CGGCTCAC others(29): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(63): Show |
a0001a0002a0003others(12): Show | a0001c0010a0001c0030a0001c0064others(21): Show | a0001c0010t0001a0001c0030t0001a0001c0064t0001others(21): Show | a0001c0010t0001g0221 a0001c0030t0001g0045 a0001c0064t0001g0055 others(63): Show |
66 | 121 | 0.5455 | 36 | c.217 others(53): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 18/38 | chr1 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1955080 | C | CGGCTCAC others(29): Show |
intron_variant | MODIFIER | HG02258.hp2 NA19030.hp1 |
a0005a0044 | a0005c0044a0044c0092 | a0005c0044t0001a0044c0092t0001 | a0005c0044t0001g0066 a0044c0092t0001g0037 |
2 | 57 | 0.0351 | 36 | c.217 others(53): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 18/38 | chr1 | TogoVar | |||||||
CFAP77_chr9_132405211_132578319 | 132486018 | A | ATATATAT others(29): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0149 | 1 | 314 | 0.0032 | 36 | c.196 others(55): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP95_chr9_69815817_69911227 | 69841164 | T | TTATATAT others(29): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0283 | 1 | 17 | 0.0588 | 36 | c.153 others(53): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP95_chr9_69815817_69911227 | 69841164 | T | TTTTATAT others(29): Show |
intron_variant | MODIFIER | HG01358.hp1 NA19012.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 a0001c0001t0001g0112 |
2 | 18 | 0.1111 | 36 | c.153 others(53): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP99_chr4_2413955_2468002 | 2466647 | T | TTGTGTGT others(29): Show |
downstream_gene_variant | MODIFIER | HG02738.hp1 HG03688.hp1 HG03942.hp1 |
a0002a0003 | a0002c0002a0003c0004 | a0002c0002t0001a0003c0004t0001 | a0002c0002t0001g0006 a0003c0004t0001g0249 a0003c0004t0001g0255 |
3 | 62 | 0.0484 | 36 | c.*37 others(47): Show |
CFAP99 | ENSG00000206113.12 | transcript | ENST00000635017.2 | protein_coding | 3646 | chr4 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75349682 | A | AATATATA others(29): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0292 | 1 | 203 | 0.0049 | 36 | c.651 others(55): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75349684 | A | AATATATA others(29): Show |
intron_variant | MODIFIER | HG02257.hp2 NA18985.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0038 a0001c0002t0001g0074 |
2 | 122 | 0.0164 | 36 | c.651 others(55): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75349698 | T | TATATATA others(29): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0098 | 1 | 224 | 0.0045 | 36 | c.651 others(55): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar |