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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFAP299_chr4_80330730_80968750 | 80453841 | AAATAATA others(5): Show |
A | intron_variant | MODIFIER | HG02040.hp1 NA18906.hp1 |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0002c0006t0001 | a0001c0001t0001g0007a0002c0006t0001g0034 | 2 | 96 | 0.0208 | -12 | c.242 others(31): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80504462 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 96 | 0.0104 | -12 | c.243 others(31): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80531747 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00642.hp1 HG02040.hp1 others(15): Show |
a0001a0002 | a0001c0001a0001c0009a0002c0002 | a0001c0001t0001a0001c0009t0002a0002c0002t0001 | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0009others(15): Show | 18 | 96 | 0.1875 | -12 | c.243 others(31): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80545925 | CTTGGATG others(5): Show |
C | intron_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0068 | 1 | 96 | 0.0104 | -12 | c.243 others(31): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80646984 | AGAGAGTG others(5): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG00639.hp2 others(27): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(2): Show | a0001c0001t0001g0011a0001c0001t0001g0054a0001c0001t0001g0055others(27): Show | 30 | 96 | 0.3125 | -12 | 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 | 80646986 | AGAGTGTG others(5): Show |
A | intron_variant | MODIFIER | HG03041.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 96 | 0.0104 | -12 | 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 | 80669141 | CTTTCTTT others(5): Show |
C | intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 96 | 0.0104 | -12 | 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 | 80732062 | GACACACA others(5): Show |
G | intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 96 | 0.0104 | -12 | c.334 others(33): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80790563 | GCTAGCTA others(5): Show |
G | intron_variant | MODIFIER | HG02071.hp2 HG02523.hp2 NA18964.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0010a0001c0001t0001g0013a0002c0002t0001g0005 | 3 | 96 | 0.0313 | -12 | c.334 others(31): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80866059 | TTATATAT others(5): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00639.hp1 HG02280.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0005t0001others(1): Show | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0048others(8): Show | 11 | 96 | 0.1146 | -12 | 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 | 80916252 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG00639.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(1): Show | a0001c0001t0001g0009a0001c0001t0001g0040a0001c0001t0001g0041others(7): Show | 10 | 96 | 0.1042 | -12 | c.477 others(31): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80931145 | AAGTGAGT others(5): Show |
A | intron_variant | MODIFIER | HG02615.hp2 HG03041.hp2 HG03130.hp2 |
a0002 | a0002c0002a0002c0006a0002c0007 | a0002c0002t0001a0002c0006t0001a0002c0007t0001 | a0002c0002t0001g0067a0002c0006t0001g0082a0002c0007t0001g0047 | 3 | 96 | 0.0313 | -12 | c.477 others(31): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80944064 | CAATAAAT others(5): Show |
C | intron_variant | MODIFIER | HG01168.hp2 HG02615.hp2 NA18964.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0007 | a0001c0001t0001a0001c0004t0001a0002c0007t0001 | a0001c0001t0001g0078a0001c0001t0001g0079a0001c0004t0001g0061others(1): Show | 4 | 96 | 0.0417 | -12 | c.477 others(27): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP300_chr11_102042437_102089554 | 102053551 | AAAACAAA others(5): Show |
A | intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 346 | 0.0029 | -12 | c.193 others(29): Show |
CFAP300 | ENSG00000137691.13 | transcript | ENST00000434758.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CFAP300_chr11_102042437_102089554 | 102085376 | CAAAAAAA others(5): Show |
C | downstream_gene_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0047 | 1 | 346 | 0.0029 | -12 | c.*21 others(23): Show |
CFAP300 | ENSG00000137691.13 | transcript | ENST00000434758.7 | protein_coding | 823 | chr11 | TogoVar | ||||||
CFAP36_chr2_55514718_55550079 | 55521971 | AAAGATAA others(5): Show |
A | intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 400 | 0.0025 | -12 | c.116 others(27): Show |
CFAP36 | ENSG00000163001.12 | transcript | ENST00000349456.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CFAP418_chr8_95239913_95274201 | 95244596 | TACACACA others(5): Show |
T | downstream_gene_variant | MODIFIER | NA18977.hp2 | a0002 | a0002c0003 | a0002c0003t0012 | a0002c0003t0012g0147 | 1 | 388 | 0.0026 | -12 | c.*30 others(23): Show |
CFAP418 | ENSG00000156172.6 | transcript | ENST00000286688.6 | protein_coding | 316 | chr8 | TogoVar | ||||||
CFAP43_chr10_104124888_104237364 | 104125604 | AGAACAAG others(5): Show |
A | downstream_gene_variant | MODIFIER | NA18988.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0076 | 1 | 306 | 0.0033 | -12 | c.*45 others(23): Show |
CFAP43 | ENSG00000197748.13 | transcript | ENST00000357060.8 | protein_coding | 4283 | chr10 | TogoVar | ||||||
CFAP43_chr10_104124888_104237364 | 104157775 | TGAGAGAG others(5): Show |
T | intron_variant | MODIFIER | HG00597.hp1 HG01346.hp2 HG02056.hp1 others(19): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0131a0001c0001t0001g0202a0001c0001t0001g0289others(19): Show | 22 | 306 | 0.0719 | -12 | c.354 others(31): Show |
CFAP43 | ENSG00000197748.13 | transcript | ENST00000357060.8 | protein_coding | 27/37 | chr10 | TogoVar | ||||||
CFAP43_chr10_104124888_104237364 | 104215136 | AAAATAAA others(5): Show |
A | intron_variant | MODIFIER | HG02015.hp1 HG02071.hp2 HG02165.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135a0001c0001t0001g0193a0001c0001t0001g0194others(3): Show | 6 | 306 | 0.0196 | -12 | c.417 others(27): Show |
CFAP43 | ENSG00000197748.13 | transcript | ENST00000357060.8 | protein_coding | 3/37 | chr10 | TogoVar | ||||||
CFAP44_chr3_113281930_113446493 | 113328695 | TTAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG02257.hp2 HG02809.hp1 others(18): Show |
a0001a0005a0020others(3): Show | a0001c0001a0005c0005a0020c0020others(3): Show | a0001c0001t0013a0005c0005t0010a0005c0005t0015others(7): Show | a0001c0001t0013g0043a0005c0005t0010g0008a0005c0005t0010g0009others(17): Show | 21 | 348 | 0.0603 | -12 | c.411 others(29): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 26/34 | chr3 | TogoVar | ||||||
CFAP44_chr3_113281930_113446493 | 113328696 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 348 | 0.0029 | -12 | c.411 others(29): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 26/34 | chr3 | TogoVar | ||||||
CFAP44_chr3_113281930_113446493 | 113353453 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG02145.hp1 | a0026 | a0026c0042 | a0026c0042t0078 | a0026c0042t0078g0320 | 1 | 348 | 0.0029 | -12 | c.306 others(31): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 22/34 | chr3 | TogoVar | ||||||
CFAP44_chr3_113281930_113446493 | 113433429 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02922.hp2 HG03017.hp2 HG03704.hp2 others(1): Show |
a0004a0028 | a0004c0004a0028c0038 | a0004c0004t0006a0004c0004t0012a0028c0038t0053 | a0004c0004t0006g0288a0004c0004t0012g0286a0004c0004t0012g0287others(1): Show | 4 | 348 | 0.0115 | -12 | c.100 others(27): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 2/34 | chr3 | TogoVar | ||||||
CFAP44_chr3_113281930_113446493 | 113435335 | CCTCTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG01099.hp1 HG01167.hp1 others(4): Show |
a0001a0030 | a0001c0008a0030c0026 | a0001c0008t0001a0030c0026t0077 | a0001c0008t0001g0203a0001c0008t0001g0205a0001c0008t0001g0206others(4): Show | 7 | 348 | 0.0201 | -12 | c.-5- others(27): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 1/34 | chr3 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132822699 | GTGTGAGT others(5): Show |
G | intron_variant | MODIFIER | HG00544.hp2 NA19004.hp2 NA20905.hp2 |
a0028a0071 | a0028c0027a0071c0098 | a0028c0027t0002a0071c0098t0002 | a0028c0027t0002g0028a0028c0027t0002g0077a0071c0098t0002g0023 | 3 | 246 | 0.0122 | -12 | c.711 others(31): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132831658 | TTTGAACG others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(99): Show |
a0002a0003a0004others(23): Show | a0002c0002a0002c0003a0002c0023others(34): Show | a0002c0002t0001a0002c0003t0001a0002c0023t0001others(36): Show | a0002c0002t0001g0126a0002c0002t0001g0141a0002c0002t0001g0159others(97): Show | 102 | 246 | 0.4146 | -12 | c.711 others(31): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132887086 | TCTCTCTC others(5): Show |
T | intron_variant | MODIFIER | HG01069.hp1 HG01243.hp1 HG01884.hp1 others(17): Show |
a0005a0010a0012others(11): Show | a0005c0013a0010c0072a0012c0076others(14): Show | a0005c0013t0001a0010c0072t0002a0012c0076t0001others(14): Show | a0005c0013t0001g0217a0005c0013t0001g0218a0005c0013t0001g0219others(17): Show | 20 | 246 | 0.0813 | -12 | c.330 others(31): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132942905 | CTCATTCA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG02615.hp2 HG03453.hp2 |
a0012a0068 | a0012c0076a0068c0071 | a0012c0076t0001a0068c0071t0002 | a0012c0076t0001g0131a0068c0071t0002g0003 | 2 | 246 | 0.0081 | -12 | c.-43 others(21): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 336 | chr10 | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 35924519 | GTATATAT others(5): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG03195.hp2 HG03579.hp1 others(1): Show |
a0005a0012 | a0005c0015a0012c0010 | a0005c0015t0001a0012c0010t0001 | a0005c0015t0001g0131a0012c0010t0001g0130a0012c0010t0001g0132others(1): Show | 4 | 216 | 0.0185 | -12 | c.250 others(29): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 1/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 35937104 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG02630.hp2 NA18943.hp1 NA19043.hp1 |
a0006a0018a0026 | a0006c0028a0018c0022a0026c0069 | a0006c0028t0001a0018c0022t0001a0026c0069t0001 | a0006c0028t0001g0186a0018c0022t0001g0003a0026c0069t0001g0147 | 3 | 216 | 0.0139 | -12 | c.402 others(29): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 2/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 35949140 | AGTGTGTG others(5): Show |
A | intron_variant | MODIFIER | HG02572.hp1 NA18906.hp1 |
a0011a0016 | a0011c0030a0016c0031 | a0011c0030t0001a0016c0031t0002 | a0011c0030t0001g0185a0016c0031t0002g0202 | 2 | 216 | 0.0093 | -12 | c.656 others(27): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 4/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 35962926 | GGTGTGTG others(5): Show |
G | intron_variant | MODIFIER | HG02809.hp1 HG03041.hp1 NA19240.hp2 |
a0014a0037 | a0014c0016a0037c0057 | a0014c0016t0001a0037c0057t0001 | a0014c0016t0001g0193a0014c0016t0001g0200a0037c0057t0001g0177 | 3 | 216 | 0.0139 | -12 | c.141 others(31): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 8/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36037338 | TTTGTTGT others(5): Show |
T | intron_variant | MODIFIER | HG02886.hp1 | a0050 | a0050c0062 | a0050c0062t0001 | a0050c0062t0001g0216 | 1 | 216 | 0.0046 | -12 | c.381 others(31): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 24/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36055038 | CTGGGATT others(5): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp1 others(212): Show |
a0001a0002a0003others(50): Show | a0001c0001a0001c0019a0001c0029others(75): Show | a0001c0001t0001a0001c0019t0001a0001c0029t0001others(75): Show | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0020others(212): Show | 215 | 216 | 0.9954 | -12 | c.421 others(31): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 26/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36145069 | ATATATGC others(5): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02258.hp1 others(16): Show |
a0005a0006a0012others(7): Show | a0005c0005a0005c0015a0006c0048others(9): Show | a0005c0005t0001a0005c0015t0001a0006c0048t0001others(9): Show | a0005c0005t0001g0006a0005c0005t0001g0008a0005c0005t0001g0009others(16): Show | 19 | 216 | 0.0880 | -12 | c.553 others(29): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 35/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36336244 | GACACACA others(5): Show |
G | intron_variant | MODIFIER | HG01255.hp1 HG02559.hp1 HG02615.hp1 others(6): Show |
a0014a0016a0034others(4): Show | a0014c0016a0016c0031a0016c0055others(5): Show | a0014c0016t0001a0016c0031t0002a0016c0055t0002others(5): Show | a0014c0016t0001g0193a0014c0016t0001g0200a0016c0031t0002g0202others(6): Show | 9 | 216 | 0.0417 | -12 | c.844 others(33): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 57/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36364901 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | HG01346.hp2 HG02886.hp2 HG03195.hp2 |
a0005a0011a0024 | a0005c0015a0011c0054a0024c0025 | a0005c0015t0001a0011c0054t0001a0024c0025t0005 | a0005c0015t0001g0131a0011c0054t0001g0201a0024c0025t0005g0182 | 3 | 216 | 0.0139 | -12 | c.902 others(31): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 61/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP52_chr17_9571642_9648447 | 9596057 | GTGTATAT others(5): Show |
G | intron_variant | MODIFIER | HG02965.hp1 NA18951.hp2 |
a0001 | a0001c0002a0001c0012 | a0001c0002t0001a0001c0012t0001 | a0001c0002t0001g0126a0001c0012t0001g0022 | 2 | 316 | 0.0063 | -12 | c.536 others(29): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CFAP52_chr17_9571642_9648447 | 9596059 | GTATATAT others(5): Show |
G | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0257 | 1 | 316 | 0.0032 | -12 | c.536 others(29): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CFAP52_chr17_9571642_9648447 | 9597819 | GAGAGAGA others(5): Show |
G | intron_variant | MODIFIER | HG02080.hp1 NA18973.hp1 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0150a0002c0001t0001g0169 | 2 | 316 | 0.0063 | -12 | c.537 others(27): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CFAP52_chr17_9571642_9648447 | 9597831 | AAGAGAGA others(5): Show |
A | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0314 | 1 | 316 | 0.0032 | -12 | c.537 others(27): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CFAP52_chr17_9571642_9648447 | 9604750 | AAAATAAA others(5): Show |
A | intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0132 | 1 | 316 | 0.0032 | -12 | c.754 others(29): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CFAP52_chr17_9571642_9648447 | 9636241 | AAGAAAGA others(5): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG01071.hp2 others(17): Show |
a0001a0002a0004 | a0001c0002a0002c0001a0002c0010others(1): Show | a0001c0002t0001a0002c0001t0001a0002c0010t0001others(1): Show | a0001c0002t0001g0213a0002c0001t0001g0061a0002c0001t0001g0068others(17): Show | 20 | 316 | 0.0633 | -12 | c.147 others(29): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96486137 | TTTTCTTT others(5): Show |
T | upstream_gene_variant | MODIFIER | HG00323.hp1 HG01168.hp2 HG01516.hp1 others(6): Show |
a0001a0003a0005others(2): Show | a0001c0001a0003c0002a0005c0004others(2): Show | a0001c0001t0001a0003c0002t0001a0005c0004t0001others(2): Show | a0001c0001t0001g0032a0001c0001t0001g0055a0001c0001t0001g0093others(6): Show | 9 | 268 | 0.0336 | -12 | c.-34 others(23): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 3439 | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96486932 | ATTATTTA others(5): Show |
A | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00544.hp1 others(65): Show |
a0001a0002a0004others(20): Show | a0001c0001a0001c0086a0002c0003others(28): Show | a0001c0001t0001a0001c0086t0001a0002c0003t0001others(29): Show | a0001c0001t0001g0165a0001c0001t0001g0166a0001c0086t0001g0148others(65): Show | 68 | 268 | 0.2537 | -12 | c.-26 others(23): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 2644 | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96495238 | CTCCTTCC others(5): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00558.hp1 others(40): Show |
a0001a0002a0004others(9): Show | a0001c0086a0002c0003a0002c0007others(15): Show | a0001c0086t0001a0002c0003t0001a0002c0007t0001others(15): Show | a0001c0086t0001g0148a0002c0003t0001g0121a0002c0003t0001g0127others(40): Show | 43 | 268 | 0.1605 | -12 | c.317 others(29): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 1/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96499906 | ACTGCACT others(5): Show |
A | intron_variant | MODIFIER | HG02630.hp1 HG03098.hp2 HG03139.hp2 others(6): Show |
a0014a0019a0036others(3): Show | a0014c0014a0019c0023a0036c0036others(3): Show | a0014c0014t0001a0019c0023t0001a0036c0036t0001others(3): Show | a0014c0014t0001g0161a0014c0014t0001g0162a0014c0014t0001g0164others(6): Show | 9 | 268 | 0.0336 | -12 | c.318 others(27): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 1/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96512299 | TTTTATAT others(5): Show |
T | intron_variant | MODIFIER | HG01123.hp2 NA18747.hp2 NA20129.hp1 |
a0005a0036 | a0005c0004a0036c0036 | a0005c0004t0001a0036c0036t0001 | a0005c0004t0001g0010a0005c0004t0001g0011a0036c0036t0001g0041 | 3 | 268 | 0.0112 | -12 | c.740 others(27): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 4/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96512301 | TTATATAT others(5): Show |
T | intron_variant | MODIFIER | HG03098.hp2 HG03195.hp1 HG03516.hp1 others(1): Show |
a0002a0014 | a0002c0003a0014c0014 | a0002c0003t0001a0014c0014t0001 | a0002c0003t0001g0122a0014c0014t0001g0161a0014c0014t0001g0162others(1): Show | 4 | 268 | 0.0149 | -12 | c.740 others(27): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 4/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |