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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFAP251_chr12_121913592_122008919 | 121928664 | ATATACG | A | intron_variant | MODIFIER | HG02056.hp1 HG03710.hp1 NA19079.hp2 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0177 a0002c0001t0001g0178 a0002c0001t0001g0207 |
3 | 354 | 0.0085 | -6 | c.748 others(23): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP251_chr12_121913592_122008919 | 121964145 | TTTGTTG | T | intron_variant | MODIFIER | HG02109.hp2 HG02258.hp2 HG02486.hp1 others(1): Show |
a0001 | a0001c0003a0001c0012 | a0001c0003t0001a0001c0012t0001 | a0001c0003t0001g0271 a0001c0012t0001g0083 a0001c0012t0001g0084 others(1): Show |
4 | 354 | 0.0113 | -6 | c.249 others(25): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP251_chr12_121913592_122008919 | 121992958 | TCTCCCA | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(132): Show |
a0001a0003a0005others(2): Show | a0001c0003a0001c0004a0001c0006others(12): Show | a0001c0003t0001a0001c0004t0001a0001c0006t0001others(12): Show | a0001c0003t0001g0057 a0001c0003t0001g0087 a0001c0003t0001g0088 others(131): Show |
135 | 354 | 0.3814 | -6 | c.300 others(25): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP251_chr12_121913592_122008919 | 121992981 | GTCTCCC | G | intron_variant | MODIFIER | HG01168.hp2 HG01255.hp1 HG01261.hp1 others(21): Show |
a0001 | a0001c0003a0001c0005a0001c0006others(2): Show | a0001c0003t0001a0001c0005t0001a0001c0006t0001others(2): Show | a0001c0003t0001g0271 a0001c0005t0001g0239 a0001c0005t0001g0240 others(21): Show |
24 | 354 | 0.0678 | -6 | c.300 others(25): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP251_chr12_121913592_122008919 | 121998432 | AATATAT | A | intron_variant | MODIFIER | HG00609.hp2 HG01358.hp1 HG01891.hp1 others(15): Show |
a0001a0003 | a0001c0003a0001c0004a0001c0006others(6): Show | a0001c0003t0001a0001c0004t0001a0001c0006t0001others(6): Show | a0001c0003t0001g0087 a0001c0003t0001g0089 a0001c0003t0001g0349 others(15): Show |
18 | 354 | 0.0509 | -6 | c.300 others(25): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP251_chr12_121913592_122008919 | 122008453 | ATTTATT | A | downstream_gene_variant | MODIFIER | NA18942.hp1 NA18978.hp1 NA18981.hp1 others(3): Show |
a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0058 a0001c0009t0001g0059 a0001c0009t0001g0060 others(3): Show |
6 | 354 | 0.0170 | -6 | c.*46 others(17): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 4535 | chr12 | TogoVar | |||||||
CFAP276_chr1_109100951_109117747 | 109113410 | GAGAGAA | G | upstream_gene_variant | MODIFIER | HG02056.hp2 HG02145.hp1 HG03239.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0018 |
3 | 404 | 0.0074 | -6 | c.-73 others(15): Show |
CFAP276 | ENSG00000179902.13 | transcript | ENST00000369948.8 | protein_coding | 664 | chr1 | TogoVar | |||||||
CFAP276_chr1_109100951_109117747 | 109113416 | AAGAGAG | A | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00609.hp2 HG00735.hp1 others(33): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0013 others(6): Show |
36 | 404 | 0.0891 | -6 | c.-74 others(15): Show |
CFAP276 | ENSG00000179902.13 | transcript | ENST00000369948.8 | protein_coding | 670 | chr1 | TogoVar | |||||||
CFAP298_chr21_32594354_32617377 | 32614249 | CTTTTTT | C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00738.hp2 HG01069.hp1 others(25): Show |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0001a0001c0001t0003a0001c0001t0035others(1): Show | a0001c0001t0001g0027 a0001c0001t0001g0052 a0001c0001t0001g0073 others(20): Show |
28 | 416 | 0.0673 | -6 | c.-20 others(17): Show |
CFAP298 | ENSG00000159079.19 | transcript | ENST00000290155.8 | protein_coding | 1873 | chr21 | TogoVar | |||||||
CFAP299_chr4_80330730_80968750 | 80340780 | TTTATTA | T | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG02258.hp1 others(10): Show |
a0001a0002a0003 | a0001c0003a0002c0006a0003c0008 | a0001c0003t0001a0001c0003t0002a0002c0006t0001others(1): Show | a0001c0003t0001g0081 a0001c0003t0001g0083 a0001c0003t0001g0086 others(10): Show |
13 | 96 | 0.1354 | -6 | c.111 others(23): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80390636 | CACATAT | C | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG00639.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 others(5): Show |
8 | 96 | 0.0833 | -6 | c.242 others(25): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80390817 | ATATATG | A | intron_variant | MODIFIER | HG00408.hp2 HG00642.hp1 HG02040.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0009 others(8): Show |
11 | 96 | 0.1146 | -6 | c.242 others(25): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80390920 | CATATGT | C | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 HG02976.hp1 others(4): Show |
a0001a0002 | a0001c0004a0002c0002a0002c0005 | a0001c0004t0001a0002c0002t0001a0002c0005t0001 | a0001c0004t0001g0065 a0001c0004t0001g0066 a0002c0002t0001g0067 others(4): Show |
7 | 96 | 0.0729 | -6 | c.242 others(25): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80390939 | ATGTATG | A | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp2 others(43): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(3): Show | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0009 others(43): Show |
46 | 96 | 0.4792 | -6 | c.242 others(25): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80390952 | CATGTAT | C | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 HG02976.hp1 others(5): Show |
a0001a0002 | a0001c0004a0002c0002a0002c0005others(1): Show | a0001c0004t0001a0002c0002t0001a0002c0005t0001others(1): Show | a0001c0004t0001g0065 a0001c0004t0001g0066 a0002c0002t0001g0067 others(5): Show |
8 | 96 | 0.0833 | -6 | c.242 others(25): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80453841 | AAATAAT | A | intron_variant | MODIFIER | HG00642.hp2 HG02280.hp2 HG02647.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(3): Show | a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0048 others(10): Show |
13 | 96 | 0.1354 | -6 | c.242 others(25): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80504462 | CATATAT | C | intron_variant | MODIFIER | HG02040.hp1 HG02071.hp2 HG02280.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0009a0002c0002 | a0001c0001t0001a0001c0009t0002a0002c0002t0001 | a0001c0001t0001g0007 a0001c0009t0002g0015 a0002c0002t0001g0005 others(4): Show |
7 | 96 | 0.0729 | -6 | c.243 others(25): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80562657 | CAATAAT | C | intron_variant | MODIFIER | HG00408.hp2 HG00642.hp1 HG02486.hp1 others(7): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0003t0002a0001c0004t0001others(3): Show | a0001c0001t0001g0004 a0001c0003t0002g0036 a0001c0003t0002g0037 others(7): Show |
10 | 96 | 0.1042 | -6 | c.243 others(25): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80581453 | GATATAT | G | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG00639.hp2 others(21): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(1): Show | a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0056 others(21): Show |
24 | 96 | 0.2500 | -6 | c.243 others(23): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80732064 | CACACAG | C | intron_variant | MODIFIER | HG00408.hp2 HG00642.hp1 HG02040.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0009 others(6): Show |
9 | 96 | 0.0938 | -6 | 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 | 80732070 | GACACAC | G | intron_variant | MODIFIER | HG03130.hp1 NA18963.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0030 a0002c0002t0001g0006 |
2 | 96 | 0.0208 | -6 | 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 | 80799345 | ATAAATG | A | intron_variant | MODIFIER | HG02965.hp2 HG03139.hp2 |
a0001a0002 | a0001c0003a0002c0006 | a0001c0003t0002a0002c0006t0001 | a0001c0003t0002g0092 a0002c0006t0001g0088 |
2 | 96 | 0.0208 | -6 | c.334 others(25): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80800490 | TAATATA | T | intron_variant | MODIFIER | HG01109.hp2 HG03195.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0035 a0001c0003t0001g0089 |
2 | 96 | 0.0208 | -6 | c.334 others(25): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | chr4 | TogoVar | |||||||
CFAP299_chr4_80330730_80968750 | 80800516 | TAATATA | T | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG02280.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0029 others(5): Show |
8 | 96 | 0.0833 | -6 | c.334 others(25): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | chr4 | TogoVar | |||||||
CFAP299_chr4_80330730_80968750 | 80800529 | ATTATAT | A | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG02280.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0029 others(5): Show |
8 | 96 | 0.0833 | -6 | c.334 others(25): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | chr4 | TogoVar | |||||||
CFAP299_chr4_80330730_80968750 | 80854810 | GAAAAAA | G | intron_variant | MODIFIER | HG02486.hp1 HG02486.hp2 HG02965.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0006 | a0001c0001t0002a0001c0003t0001a0001c0003t0002others(1): Show | a0001c0001t0002g0030 a0001c0003t0001g0038 a0001c0003t0002g0036 others(5): Show |
8 | 96 | 0.0833 | -6 | c.334 others(25): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80866059 | TTATATA | T | intron_variant | MODIFIER | HG00423.hp1 HG01243.hp1 HG02280.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(1): Show | a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0002g0027 others(2): Show |
5 | 96 | 0.0521 | -6 | c.334 others(23): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80868905 | CTGTGTG | C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00642.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0009 others(8): Show |
11 | 96 | 0.1146 | -6 | c.334 others(23): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80871960 | CTTTTTT | C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00642.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0009 others(8): Show |
11 | 96 | 0.1146 | -6 | c.476 others(23): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80916252 | AATATAT | A | intron_variant | MODIFIER | HG02886.hp2 HG02976.hp2 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0002 | a0001c0003t0001g0083 a0001c0003t0002g0090 |
2 | 96 | 0.0208 | -6 | c.477 others(25): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP300_chr11_102042437_102089554 | 102059281 | ATGTGTG | A | intron_variant | MODIFIER | HG01167.hp1 HG01167.hp2 HG01169.hp1 others(32): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0005 | a0001c0001t0002g0067 a0001c0001t0003g0007 a0001c0001t0003g0012 others(19): Show |
35 | 346 | 0.1012 | -6 | c.268 others(21): Show |
CFAP300 | ENSG00000137691.13 | transcript | ENST00000434758.7 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CFAP410_chr21_44323944_44344390 | 44344382 | CAAAAAA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00558.hp2 others(64): Show |
a0001a0004a0005others(2): Show | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(17): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0027 others(44): Show |
67 | 436 | 0.1537 | -6 | c.-51 others(17): Show |
CFAP410 | ENSG00000160226.16 | transcript | ENST00000339818.9 | protein_coding | 4993 | chr21 | TogoVar | |||||||
CFAP418_chr8_95239913_95274201 | 95244596 | TACACAC | T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00558.hp1 others(68): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0036 others(36): Show |
71 | 388 | 0.1830 | -6 | c.*30 others(17): Show |
CFAP418 | ENSG00000156172.6 | transcript | ENST00000286688.6 | protein_coding | 316 | chr8 | TogoVar | |||||||
CFAP418_chr8_95239913_95274201 | 95269956 | CGAGAGA | C | upstream_gene_variant | MODIFIER | HG01106.hp2 HG01361.hp1 HG01891.hp2 others(10): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0018a0001c0005t0001 | a0001c0001t0001g0015 a0001c0001t0001g0038 a0001c0001t0001g0039 others(5): Show |
13 | 388 | 0.0335 | -6 | c.-77 others(15): Show |
CFAP418 | ENSG00000156172.6 | transcript | ENST00000286688.6 | protein_coding | 756 | chr8 | TogoVar | |||||||
CFAP418_chr8_95239913_95274201 | 95270979 | AACACAC | A | upstream_gene_variant | MODIFIER | HG00733.hp1 HG01069.hp2 HG01070.hp1 others(29): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0018others(2): Show | a0001c0001t0001g0015 a0001c0001t0001g0038 a0001c0001t0001g0048 others(12): Show |
32 | 388 | 0.0825 | -6 | c.-17 others(17): Show |
CFAP418 | ENSG00000156172.6 | transcript | ENST00000286688.6 | protein_coding | 1779 | chr8 | TogoVar | |||||||
CFAP43_chr10_104124888_104237364 | 104169088 | GTACCTC | G | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG00597.hp2 others(135): Show |
a0001a0004a0006others(8): Show | a0001c0001a0001c0003a0001c0006others(16): Show | a0001c0001t0001a0001c0003t0001a0001c0006t0001others(16): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 others(134): Show |
138 | 306 | 0.4510 | -6 | c.258 others(23): Show |
CFAP43 | ENSG00000197748.13 | transcript | ENST00000357060.8 | protein_coding | 20/37 | chr10 | TogoVar | |||||||
CFAP43_chr10_104124888_104237364 | 104220949 | CGTGTGT | C | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01167.hp1 others(14): Show |
a0001a0002a0007others(1): Show | a0001c0001a0002c0002a0002c0011others(3): Show | a0001c0001t0001a0002c0002t0001a0002c0011t0001others(3): Show | a0001c0001t0001g0211 a0001c0001t0001g0212 a0002c0002t0001g0002 others(13): Show |
17 | 306 | 0.0556 | -6 | c.416 others(23): Show |
CFAP43 | ENSG00000197748.13 | transcript | ENST00000357060.8 | protein_coding | 3/37 | chr10 | TogoVar | |||||||
CFAP44_chr3_113281930_113446493 | 113353453 | TACACAC | T | intron_variant | MODIFIER | HG00438.hp1 HG00609.hp2 HG00621.hp1 others(101): Show |
a0001a0002a0003others(13): Show | a0001c0001a0002c0002a0003c0003others(15): Show | a0001c0001t0029a0001c0001t0034a0001c0001t0081others(39): Show | a0001c0001t0029g0282 a0001c0001t0034g0196 a0001c0001t0081g0341 others(97): Show |
104 | 348 | 0.2989 | -6 | c.306 others(25): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 22/34 | chr3 | TogoVar | |||||||
CFAP44_chr3_113281930_113446493 | 113376810 | ATAAAAT | A | intron_variant | MODIFIER | HG02572.hp2 HG02809.hp2 HG03579.hp2 others(1): Show |
a0008 | a0008c0011 | a0008c0011t0023a0008c0011t0033a0008c0011t0047 | a0008c0011t0023g0026 a0008c0011t0033g0024 a0008c0011t0033g0025 others(1): Show |
4 | 348 | 0.0115 | -6 | c.229 others(25): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 17/34 | chr3 | TogoVar | |||||||
CFAP45_chr1_159867364_159905165 | 159883623 | AATATAT | A | intron_variant | MODIFIER | HG01099.hp2 HG01243.hp1 HG01516.hp2 others(23): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0003c0004others(1): Show | a0001c0001t0001a0002c0003t0001a0003c0004t0001others(1): Show | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0027 others(14): Show |
26 | 410 | 0.0634 | -6 | c.897 others(21): Show |
CFAP45 | ENSG00000213085.10 | transcript | ENST00000368099.9 | protein_coding | 7/11 | chr1 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132823694 | TGATGTG | T | intron_variant | MODIFIER | HG00544.hp2 NA19004.hp2 NA20905.hp2 |
a0019a0075 | a0019c0027a0075c0098 | a0019c0027t0002a0075c0098t0002 | a0019c0027t0002g0028 a0019c0027t0002g0077 a0075c0098t0002g0023 |
3 | 246 | 0.0122 | -6 | c.711 others(25): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132912604 | CCTCTCT | C | intron_variant | MODIFIER | HG01069.hp1 HG01069.hp2 HG01243.hp1 others(18): Show |
a0012a0016a0022others(12): Show | a0012c0025a0012c0076a0016c0026others(15): Show | a0012c0025t0002a0012c0076t0001a0016c0026t0002others(15): Show | a0012c0025t0002g0007 a0012c0025t0002g0014 a0012c0076t0001g0131 others(18): Show |
21 | 246 | 0.0854 | -6 | c.249 others(21): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 19/57 | chr10 | TogoVar | |||||||
CFAP47_chrX_35914734_36390317 | 35923906 | CATGTGT | C | intron_variant | MODIFIER | HG02622.hp2 HG02717.hp1 HG03225.hp1 others(1): Show |
a0015a0031a0042others(1): Show | a0015c0063a0031c0061a0042c0060others(1): Show | a0015c0063t0001a0031c0061t0002a0042c0060t0001others(1): Show | a0015c0063t0001g0213 a0031c0061t0002g0214 a0042c0060t0001g0208 others(1): Show |
4 | 216 | 0.0185 | -6 | c.250 others(23): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 1/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 35923931 | GTGTATA | G | intron_variant | MODIFIER | HG02970.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0006 | 1 | 216 | 0.0046 | -6 | c.250 others(23): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 1/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 35924161 | GTATATA | G | intron_variant | MODIFIER | HG03225.hp1 NA20129.hp1 |
a0042a0053 | a0042c0060a0053c0059 | a0042c0060t0001a0053c0059t0001 | a0042c0060t0001g0208 a0053c0059t0001g0215 |
2 | 216 | 0.0093 | -6 | c.250 others(23): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 1/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 35942028 | CTGTGTG | C | intron_variant | MODIFIER | NA18968.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0166 | 1 | 216 | 0.0046 | -6 | c.517 others(21): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 3/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 35949140 | AGTGTGT | A | intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0071 | a0001c0071t0001 | a0001c0071t0001g0149 | 1 | 216 | 0.0046 | -6 | c.656 others(21): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 4/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 35960380 | GAAAAAA | G | intron_variant | MODIFIER | HG01255.hp1 HG02818.hp2 HG03041.hp1 others(1): Show |
a0017a0023 | a0017c0016a0017c0070a0023c0058 | a0017c0016t0001a0017c0070t0001a0023c0058t0001 | a0017c0016t0001g0193 a0017c0016t0001g0200 a0017c0070t0001g0138 others(1): Show |
4 | 216 | 0.0185 | -6 | c.141 others(25): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 8/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 35962926 | GGTGTGT | G | intron_variant | MODIFIER | HG02559.hp1 HG02559.hp2 HG02572.hp1 others(8): Show |
a0006a0010a0013others(6): Show | a0006c0008a0006c0028a0010c0030others(7): Show | a0006c0008t0001a0006c0028t0001a0010c0030t0001others(7): Show | a0006c0008t0001g0175 a0006c0028t0001g0186 a0010c0030t0001g0185 others(8): Show |
11 | 216 | 0.0509 | -6 | c.141 others(25): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 8/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 36031735 | GAATAAT | G | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00621.hp1 others(58): Show |
a0001a0002a0003others(20): Show | a0001c0029a0002c0002a0002c0013others(31): Show | a0001c0029t0001a0002c0002t0001a0002c0013t0001others(31): Show | a0001c0029t0001g0083 a0002c0002t0001g0150 a0002c0002t0001g0151 others(58): Show |
61 | 216 | 0.2824 | -6 | c.365 others(23): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 23/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar |