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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFAP298_chr21_32594354_32617377 | 32617134 | TAAAACAA others(3): Show |
T | upstream_gene_variant | MODIFIER | HG01175.hp2 HG03195.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 3 | 416 | 0.0072 | -10 | c.-49 others(21): Show |
CFAP298 | ENSG00000159079.19 | transcript | ENST00000290155.8 | protein_coding | 4758 | chr21 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80447120 | TTTTTTTT others(3): Show |
T | intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 96 | 0.0104 | -10 | c.242 others(29): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80535494 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp2 NA18522.hp2 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0002 | a0001c0003t0001g0081a0001c0003t0001g0086a0001c0003t0002g0087 | 3 | 96 | 0.0313 | -10 | c.243 others(29): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80574959 | AGTAATAC others(3): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG00639.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(12): Show | 15 | 96 | 0.1563 | -10 | c.243 others(27): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80591122 | TTTTTTTT others(3): Show |
T | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 96 | 0.0104 | -10 | c.333 others(27): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80669141 | CTTTCTTT others(3): Show |
C | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0090 | 1 | 96 | 0.0104 | -10 | c.333 others(29): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80669145 | CTTTCTTT others(3): Show |
C | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0050 | 1 | 96 | 0.0104 | -10 | c.333 others(29): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80724817 | TTTTTTCT others(3): Show |
T | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0009 | a0001c0009t0002 | a0001c0009t0002g0015 | 1 | 96 | 0.0104 | -10 | c.333 others(31): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80799814 | TATATATT others(3): Show |
T | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0009 | a0001c0009t0002 | a0001c0009t0002g0015 | 1 | 96 | 0.0104 | -10 | c.334 others(29): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80800027 | TATAATAT others(3): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG02486.hp2 HG02976.hp2 others(3): Show |
a0001a0002 | a0001c0003a0002c0002a0002c0006 | a0001c0003t0001a0001c0003t0002a0002c0002t0001others(1): Show | a0001c0003t0001g0038a0001c0003t0002g0084a0001c0003t0002g0090others(3): Show | 6 | 96 | 0.0625 | -10 | c.334 others(29): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80800462 | TATAATAT others(3): Show |
T | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0089 | 1 | 96 | 0.0104 | -10 | c.334 others(29): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80866059 | TTATATAT others(3): Show |
T | intron_variant | MODIFIER | HG00597.hp2 NA18957.hp2 NA18983.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042a0001c0001t0001g0043a0001c0001t0001g0044others(2): Show | 5 | 96 | 0.0521 | -10 | c.334 others(27): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80916252 | AATATATA others(3): Show |
A | intron_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0068 | 1 | 96 | 0.0104 | -10 | c.477 others(29): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP36_chr2_55514718_55550079 | 55528169 | AGAATTAT others(3): Show |
A | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 400 | 0.0025 | -10 | c.283 others(25): Show |
CFAP36 | ENSG00000163001.12 | transcript | ENST00000349456.9 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CFAP36_chr2_55514718_55550079 | 55537618 | AATATGAA others(3): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(97): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0002a0004c0004t0001 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0015others(47): Show | 100 | 400 | 0.2500 | -10 | c.640 others(23): Show |
CFAP36 | ENSG00000163001.12 | transcript | ENST00000349456.9 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CFAP410_chr21_44323944_44344390 | 44325346 | TCACGGGC others(3): Show |
T | downstream_gene_variant | MODIFIER | HG00639.hp2 HG01175.hp2 HG01515.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0118a0001c0001t0001g0161 | 3 | 436 | 0.0069 | -10 | c.*48 others(21): Show |
CFAP410 | ENSG00000160226.16 | transcript | ENST00000339818.9 | protein_coding | 3597 | chr21 | TogoVar | ||||||
CFAP410_chr21_44323944_44344390 | 44340595 | AGCCCATA others(3): Show |
A | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02572.hp1 HG02976.hp1 others(3): Show |
a0001a0005 | a0001c0002a0005c0011 | a0001c0002t0006a0005c0011t0012 | a0001c0002t0006g0052a0001c0002t0006g0053a0001c0002t0006g0054others(3): Show | 6 | 436 | 0.0138 | -10 | c.-14 others(21): Show |
CFAP410 | ENSG00000160226.16 | transcript | ENST00000339818.9 | protein_coding | 1206 | chr21 | TogoVar | ||||||
CFAP418_chr8_95239913_95274201 | 95264372 | GCTAAATA others(3): Show |
G | intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 388 | 0.0026 | -10 | c.156 others(25): Show |
CFAP418 | ENSG00000156172.6 | transcript | ENST00000286688.6 | protein_coding | 1/5 | chr8 | TogoVar | ||||||
CFAP418_chr8_95239913_95274201 | 95268751 | CGGGCGGG others(3): Show |
C | intron_variant | MODIFIER | NA18969.hp2 NA19077.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 2 | 388 | 0.0052 | -10 | c.155 others(25): Show |
CFAP418 | ENSG00000156172.6 | transcript | ENST00000286688.6 | protein_coding | 1/5 | chr8 | TogoVar | ||||||
CFAP43_chr10_104124888_104237364 | 104157771 | TGTGTGAG others(3): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066a0001c0001t0001g0067 | 2 | 306 | 0.0065 | -10 | c.354 others(29): Show |
CFAP43 | ENSG00000197748.13 | transcript | ENST00000357060.8 | protein_coding | 27/37 | chr10 | TogoVar | ||||||
CFAP43_chr10_104124888_104237364 | 104157775 | TGAGAGAG others(3): Show |
T | intron_variant | MODIFIER | HG02040.hp2 NA18965.hp1 NA18994.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0225a0002c0002t0001g0085a0002c0002t0001g0087 | 3 | 306 | 0.0098 | -10 | c.354 others(29): Show |
CFAP43 | ENSG00000197748.13 | transcript | ENST00000357060.8 | protein_coding | 27/37 | chr10 | TogoVar | ||||||
CFAP43_chr10_104124888_104237364 | 104214124 | CGTATGTG others(3): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02895.hp1 HG02897.hp2 others(3): Show |
a0001a0011 | a0001c0001a0011c0022 | a0001c0001t0001a0011c0022t0001 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0020others(3): Show | 6 | 306 | 0.0196 | -10 | c.584 others(25): Show |
CFAP43 | ENSG00000197748.13 | transcript | ENST00000357060.8 | protein_coding | 4/37 | chr10 | TogoVar | ||||||
CFAP43_chr10_104124888_104237364 | 104218347 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00609.hp2 HG01069.hp2 others(34): Show |
a0001a0002a0013 | a0001c0001a0001c0024a0002c0002others(3): Show | a0001c0001t0001a0001c0024t0001a0002c0002t0001others(3): Show | a0001c0001t0001g0091a0001c0024t0001g0247a0002c0002t0001g0002others(33): Show | 37 | 306 | 0.1209 | -10 | c.417 others(27): Show |
CFAP43 | ENSG00000197748.13 | transcript | ENST00000357060.8 | protein_coding | 3/37 | chr10 | TogoVar | ||||||
CFAP43_chr10_104124888_104237364 | 104220949 | CGTGTGTG others(3): Show |
C | intron_variant | MODIFIER | HG02922.hp2 HG03710.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0289a0001c0001t0001g0294 | 2 | 306 | 0.0065 | -10 | c.416 others(27): Show |
CFAP43 | ENSG00000197748.13 | transcript | ENST00000357060.8 | protein_coding | 3/37 | chr10 | TogoVar | ||||||
CFAP43_chr10_104124888_104237364 | 104227835 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG01074.hp1 HG01192.hp2 HG01952.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117a0001c0001t0001g0253a0001c0001t0001g0254others(9): Show | 12 | 306 | 0.0392 | -10 | c.320 others(27): Show |
CFAP43 | ENSG00000197748.13 | transcript | ENST00000357060.8 | protein_coding | 2/37 | chr10 | TogoVar | ||||||
CFAP44_chr3_113281930_113446493 | 113302457 | TAAAAAAA others(3): Show |
T | intron_variant | MODIFIER | HG00544.hp1 | a0004 | a0004c0004 | a0004c0004t0017 | a0004c0004t0017g0290 | 1 | 348 | 0.0029 | -10 | c.507 others(29): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 32/34 | chr3 | TogoVar | ||||||
CFAP44_chr3_113281930_113446493 | 113320224 | GTCTCTCT others(3): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG01884.hp1 HG02109.hp2 others(18): Show |
a0001a0029 | a0001c0001a0029c0034 | a0001c0001t0009a0001c0001t0024a0001c0001t0026others(7): Show | a0001c0001t0009g0330a0001c0001t0009g0332a0001c0001t0009g0333others(18): Show | 21 | 348 | 0.0603 | -10 | c.451 others(29): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 28/34 | chr3 | TogoVar | ||||||
CFAP44_chr3_113281930_113446493 | 113328695 | TTAAAAAA others(3): Show |
T | intron_variant | MODIFIER | HG01074.hp2 HG01099.hp2 HG01257.hp2 others(4): Show |
a0002a0006 | a0002c0002a0006c0006 | a0002c0002t0002a0002c0002t0004a0006c0006t0004 | a0002c0002t0002g0055a0002c0002t0002g0082a0002c0002t0002g0175others(4): Show | 7 | 348 | 0.0201 | -10 | c.411 others(27): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 26/34 | chr3 | TogoVar | ||||||
CFAP44_chr3_113281930_113446493 | 113353453 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG01257.hp2 HG01433.hp1 HG02040.hp1 others(5): Show |
a0002a0009 | a0002c0002a0009c0011 | a0002c0002t0002a0002c0002t0032a0002c0002t0064others(2): Show | a0002c0002t0002g0054a0002c0002t0002g0089a0002c0002t0002g0175others(5): Show | 8 | 348 | 0.0230 | -10 | c.306 others(29): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 22/34 | chr3 | TogoVar | ||||||
CFAP44_chr3_113281930_113446493 | 113353489 | CACACACA others(3): Show |
C | intron_variant | MODIFIER | HG03710.hp1 | a0007 | a0007c0009 | a0007c0009t0002 | a0007c0009t0002g0220 | 1 | 348 | 0.0029 | -10 | c.306 others(29): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 22/34 | chr3 | TogoVar | ||||||
CFAP45_chr1_159867364_159905165 | 159883623 | AATATATA others(3): Show |
A | intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0260 | 1 | 410 | 0.0024 | -10 | c.897 others(25): Show |
CFAP45 | ENSG00000213085.10 | transcript | ENST00000368099.9 | protein_coding | 7/11 | chr1 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132821518 | CTGTGTGC others(3): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG01261.hp1 NA19004.hp2 others(1): Show |
a0009a0028a0071 | a0009c0043a0028c0027a0071c0098 | a0009c0043t0001a0028c0027t0002a0071c0098t0002 | a0009c0043t0001g0155a0028c0027t0002g0028a0028c0027t0002g0077others(1): Show | 4 | 246 | 0.0163 | -10 | c.711 others(29): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132821983 | GTGTGTGC others(3): Show |
G | intron_variant | MODIFIER | HG03225.hp1 | a0023 | a0023c0062 | a0023c0062t0001 | a0023c0062t0001g0210 | 1 | 246 | 0.0041 | -10 | c.711 others(29): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132822821 | GTGTGTGC others(3): Show |
G | intron_variant | MODIFIER | HG00741.hp2 HG01496.hp2 HG02109.hp2 others(3): Show |
a0001a0038a0065 | a0001c0001a0001c0030a0038c0037others(1): Show | a0001c0001t0002a0001c0030t0002a0038c0037t0001others(1): Show | a0001c0001t0002g0051a0001c0001t0002g0052a0001c0030t0002g0039others(3): Show | 6 | 246 | 0.0244 | -10 | c.711 others(29): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132823676 | CTGTGTGC others(3): Show |
C | intron_variant | MODIFIER | HG03017.hp1 | a0051 | a0051c0105 | a0051c0105t0001 | a0051c0105t0001g0239 | 1 | 246 | 0.0041 | -10 | c.711 others(29): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132824053 | GTGTGTGC others(3): Show |
G | intron_variant | MODIFIER | HG00733.hp2 HG02109.hp2 HG02886.hp1 |
a0038a0064a0065 | a0038c0037a0064c0101a0065c0102 | a0038c0037t0001a0064c0101t0002a0065c0102t0002 | a0038c0037t0001g0230a0064c0101t0002g0022a0065c0102t0002g0018 | 3 | 246 | 0.0122 | -10 | c.711 others(29): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132824495 | CTGTGTGC others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(9): Show |
a0004a0035a0037others(2): Show | a0004c0005a0035c0057a0037c0056others(2): Show | a0004c0005t0001a0004c0005t0002a0035c0057t0001others(3): Show | a0004c0005t0001g0220a0004c0005t0001g0221a0004c0005t0001g0222others(9): Show | 12 | 246 | 0.0488 | -10 | c.711 others(29): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132824965 | AGTGCTGA others(3): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00544.hp1 others(7): Show |
a0011a0019a0035others(3): Show | a0011c0010a0019c0020a0035c0057others(3): Show | a0011c0010t0001a0019c0020t0001a0035c0057t0001others(3): Show | a0011c0010t0001g0197a0011c0010t0001g0198a0011c0010t0001g0202others(7): Show | 10 | 246 | 0.0407 | -10 | c.711 others(29): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132824991 | GTGTGTGC others(3): Show |
G | intron_variant | MODIFIER | HG01884.hp2 | a0066 | a0066c0077 | a0066c0077t0001 | a0066c0077t0001g0127 | 1 | 246 | 0.0041 | -10 | c.711 others(29): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132837496 | TGCACACA others(3): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(143): Show |
a0000a0001a0002others(43): Show | a0000c0087a0001c0001a0002c0002others(63): Show | a0000c0087t0002a0001c0001t0002a0002c0002t0001others(66): Show | a0000c0087t0002g0112a0001c0001t0002g0084a0002c0002t0001g0126others(141): Show | 146 | 246 | 0.5935 | -10 | c.643 others(27): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 44/57 | chr10 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132912604 | CCTCTCTC others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(80): Show |
a0002a0003a0004others(23): Show | a0002c0002a0002c0003a0002c0023others(33): Show | a0002c0002t0001a0002c0003t0001a0002c0023t0001others(34): Show | a0002c0002t0001g0126a0002c0002t0001g0141a0002c0002t0001g0159others(79): Show | 83 | 246 | 0.3374 | -10 | c.249 others(25): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 19/57 | chr10 | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 35924520 | TATATATG others(3): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02615.hp1 others(9): Show |
a0005a0010a0011others(3): Show | a0005c0015a0010c0007a0011c0054others(4): Show | a0005c0015t0001a0010c0007t0001a0011c0054t0001others(4): Show | a0005c0015t0001g0199a0010c0007t0001g0194a0010c0007t0001g0195others(9): Show | 12 | 216 | 0.0556 | -10 | c.250 others(27): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 1/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 35962926 | GGTGTGTG others(3): Show |
G | intron_variant | MODIFIER | HG02257.hp2 HG02622.hp1 HG02723.hp1 others(2): Show |
a0006a0007a0011others(1): Show | a0006c0048a0007c0077a0011c0049others(2): Show | a0006c0048t0001a0007c0077t0001a0011c0049t0001others(2): Show | a0006c0048t0001g0001a0007c0077t0001g0140a0011c0049t0001g0184others(2): Show | 5 | 216 | 0.0232 | -10 | c.141 others(29): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 8/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36145069 | ATATATGC others(3): Show |
A | intron_variant | MODIFIER | HG01261.hp1 HG01884.hp1 HG02257.hp1 others(3): Show |
a0005a0006a0019others(1): Show | a0005c0015a0006c0008a0019c0023others(1): Show | a0005c0015t0001a0006c0008t0001a0019c0023t0001others(1): Show | a0005c0015t0001g0199a0006c0008t0001g0188a0006c0008t0001g0189others(3): Show | 6 | 216 | 0.0278 | -10 | c.553 others(27): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 35/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36243647 | GTATATAT others(3): Show |
G | intron_variant | MODIFIER | HG02027.hp1 HG02622.hp2 HG02818.hp2 others(8): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0003c0004others(7): Show | a0001c0001t0001a0002c0002t0001a0003c0004t0001others(7): Show | a0001c0001t0001g0088a0002c0002t0001g0150a0002c0002t0001g0153others(8): Show | 11 | 216 | 0.0509 | -10 | c.733 others(29): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 48/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36336244 | GACACACA others(3): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG02723.hp2 HG02735.hp1 others(8): Show |
a0003a0006a0012others(4): Show | a0003c0074a0006c0008a0012c0010others(5): Show | a0003c0074t0001a0006c0008t0001a0012c0010t0001others(5): Show | a0003c0074t0001g0139a0006c0008t0001g0022a0006c0008t0001g0023others(8): Show | 11 | 216 | 0.0509 | -10 | c.844 others(31): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 57/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36364901 | CATATATA others(3): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG01884.hp2 HG02818.hp2 others(1): Show |
a0001a0014a0016 | a0001c0001a0014c0070a0016c0052 | a0001c0001t0001a0014c0070t0001a0016c0052t0001 | a0001c0001t0001g0074a0001c0001t0001g0129a0014c0070t0001g0138others(1): Show | 4 | 216 | 0.0185 | -10 | c.902 others(29): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 61/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36371829 | CATGTGTG others(3): Show |
C | intron_variant | MODIFIER | HG02559.hp1 | a0034 | a0034c0037 | a0034c0037t0001 | a0034c0037t0001g0014 | 1 | 216 | 0.0046 | -10 | c.918 others(29): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 62/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP52_chr17_9571642_9648447 | 9596057 | GTGTATAT others(3): Show |
G | intron_variant | MODIFIER | HG01175.hp2 HG01433.hp1 HG02559.hp1 others(7): Show |
a0001a0006 | a0001c0002a0006c0014 | a0001c0002t0001a0006c0014t0001 | a0001c0002t0001g0012a0001c0002t0001g0020a0001c0002t0001g0026others(7): Show | 10 | 316 | 0.0317 | -10 | c.536 others(27): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CFAP52_chr17_9571642_9648447 | 9596059 | GTATATAT others(3): Show |
G | intron_variant | MODIFIER | HG02280.hp2 HG02572.hp2 HG02615.hp1 others(6): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0001 | a0001c0002t0001g0007a0001c0002t0001g0021a0001c0002t0001g0041others(6): Show | 9 | 316 | 0.0285 | -10 | c.536 others(27): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |