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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFAP43_chr10_104124888_104237364 | 104136349 | C | CTTATT | intron_variant | MODIFIER | HG02165.hp1 HG02280.hp1 HG02622.hp2 others(6): Show |
a0001a0010a0012 | a0001c0001a0001c0010a0010c0023others(1): Show | a0001c0001t0001a0001c0010t0001a0010c0023t0001others(1): Show | a0001c0001t0001g0029 a0001c0001t0001g0046 a0001c0001t0001g0048 others(6): Show |
9 | 303 | 0.0297 | 5 | c.443 others(24): Show |
CFAP43 | ENSG00000197748.13 | transcript | ENST00000357060.8 | protein_coding | 34/37 | chr10 | TogoVar | |||||||
CFAP43_chr10_104124888_104237364 | 104189842 | A | AAAAAC | intron_variant | MODIFIER | HG00597.hp2 NA18954.hp2 NA18963.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0271 a0001c0001t0001g0276 a0001c0001t0001g0286 others(1): Show |
4 | 304 | 0.0132 | 5 | c.154 others(24): Show |
CFAP43 | ENSG00000197748.13 | transcript | ENST00000357060.8 | protein_coding | 12/37 | chr10 | TogoVar | |||||||
CFAP43_chr10_104124888_104237364 | 104210783 | C | CTTTTT | intron_variant | MODIFIER | HG01952.hp1 HG02300.hp1 HG02523.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 others(4): Show |
7 | 164 | 0.0427 | 5 | c.735 others(22): Show |
CFAP43 | ENSG00000197748.13 | transcript | ENST00000357060.8 | protein_coding | 5/37 | chr10 | TogoVar | |||||||
CFAP44_chr3_113281930_113446493 | 113302457 | T | TAAAAA | intron_variant | MODIFIER | HG00621.hp2 HG01175.hp2 HG01243.hp2 others(3): Show |
a0003a0006 | a0003c0003a0003c0007a0003c0019others(1): Show | a0003c0003t0003a0003c0007t0014a0003c0019t0014others(1): Show | a0003c0003t0003g0125 a0003c0003t0003g0136 a0003c0003t0003g0157 others(3): Show |
6 | 190 | 0.0316 | 5 | c.507 others(24): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 32/34 | chr3 | TogoVar | |||||||
CFAP44_chr3_113281930_113446493 | 113312238 | A | ATTTTT | intron_variant | MODIFIER | HG00323.hp2 HG02055.hp1 HG02723.hp1 others(3): Show |
a0004a0008a0012 | a0004c0004a0008c0011a0012c0017 | a0004c0004t0012a0008c0011t0023a0008c0011t0047others(2): Show | a0004c0004t0012g0303 a0008c0011t0023g0028 a0008c0011t0047g0170 others(3): Show |
6 | 275 | 0.0218 | 5 | c.451 others(24): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 28/34 | chr3 | TogoVar | |||||||
CFAP44_chr3_113281930_113446493 | 113338255 | C | CAAAAA | intron_variant | MODIFIER | HG00544.hp1 HG02145.hp2 HG02738.hp1 others(7): Show |
a0004 | a0004c0004a0004c0043 | a0004c0004t0004a0004c0004t0006a0004c0004t0007others(3): Show | a0004c0004t0004g0302 a0004c0004t0006g0286 a0004c0004t0006g0299 others(7): Show |
10 | 42 | 0.2381 | 5 | c.343 others(24): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 24/34 | chr3 | TogoVar | |||||||
CFAP44_chr3_113281930_113446493 | 113374399 | A | ATTTAT | intron_variant | MODIFIER | HG02738.hp1 NA18951.hp2 NA18952.hp2 others(1): Show |
a0004 | a0004c0004a0004c0043 | a0004c0004t0007a0004c0043t0057 | a0004c0004t0007g0288 a0004c0004t0007g0289 a0004c0004t0007g0305 others(1): Show |
4 | 326 | 0.0123 | 5 | c.229 others(22): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 17/34 | chr3 | TogoVar | |||||||
CFAP44_chr3_113281930_113446493 | 113430429 | G | GAAAAA | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp1 HG00597.hp2 others(18): Show |
a0004a0037 | a0004c0004a0037c0044 | a0004c0004t0004a0004c0004t0006a0004c0004t0007others(4): Show | a0004c0004t0004g0302 a0004c0004t0006g0286 a0004c0004t0006g0299 others(18): Show |
21 | 254 | 0.0827 | 5 | c.101 others(22): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 2/34 | chr3 | TogoVar | |||||||
CFAP45_chr1_159867364_159905165 | 159878753 | T | TAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00544.hp2 HG01109.hp1 others(17): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0007 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0196 a0001c0002t0001g0009 a0001c0002t0001g0010 others(10): Show |
20 | 52 | 0.3846 | 5 | c.104 others(24): Show |
CFAP45 | ENSG00000213085.10 | transcript | ENST00000368099.9 | protein_coding | 8/11 | chr1 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132823949 | G | GAGTGC | intron_variant | MODIFIER | HG00544.hp2 NA19004.hp2 NA20905.hp2 |
a0019a0075 | a0019c0027a0075c0098 | a0019c0027t0002a0075c0098t0002 | a0019c0027t0002g0026 a0019c0027t0002g0078 a0075c0098t0002g0023 |
3 | 244 | 0.0123 | 5 | c.711 others(24): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132823961 | G | GTGTGC | intron_variant | MODIFIER | HG00544.hp2 NA19004.hp2 NA20905.hp2 |
a0019a0075 | a0019c0027a0075c0098 | a0019c0027t0002a0075c0098t0002 | a0019c0027t0002g0026 a0019c0027t0002g0078 a0075c0098t0002g0023 |
3 | 244 | 0.0123 | 5 | c.711 others(24): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132824131 | G | GTGTGC | intron_variant | MODIFIER | HG00544.hp2 NA19004.hp2 NA20905.hp2 |
a0019a0075 | a0019c0027a0075c0098 | a0019c0027t0002a0075c0098t0002 | a0019c0027t0002g0026 a0019c0027t0002g0078 a0075c0098t0002g0023 |
3 | 244 | 0.0123 | 5 | c.711 others(24): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132824219 | C | CAGTGA | intron_variant | MODIFIER | HG00733.hp2 HG02109.hp2 HG02886.hp1 |
a0031a0044a0052 | a0031c0101a0044c0102a0052c0037 | a0031c0101t0002a0044c0102t0002a0052c0037t0001 | a0031c0101t0002g0022 a0044c0102t0002g0019 a0052c0037t0001g0230 |
3 | 244 | 0.0123 | 5 | c.711 others(24): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132854323 | G | GTGTTT | intron_variant | MODIFIER | HG00544.hp2 HG00733.hp2 HG00741.hp1 others(34): Show |
a0001a0008a0009others(22): Show | a0001c0001a0008c0097a0009c0021others(28): Show | a0001c0001t0002a0008c0097t0001a0009c0021t0001others(28): Show | a0001c0001t0002g0032 a0008c0097t0001g0120 a0009c0021t0001g0243 others(34): Show |
37 | 216 | 0.1713 | 5 | c.557 others(24): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 39/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132937144 | A | ATTAAG | intron_variant | MODIFIER | HG01069.hp2 HG01169.hp1 HG01257.hp2 others(12): Show |
a0010a0012a0021others(9): Show | a0010c0072a0012c0025a0012c0073others(10): Show | a0010c0072t0002a0012c0025t0002a0012c0073t0002others(11): Show | a0010c0072t0002g0004 a0012c0025t0002g0007 a0012c0025t0002g0014 others(12): Show |
15 | 243 | 0.0617 | 5 | c.661 others(18): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 6/57 | chr10 | TogoVar | |||||||
CFAP47_chrX_35914734_36390317 | 35998951 | C | CTTATT | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00621.hp1 others(85): Show |
a0001a0002a0003others(31): Show | a0001c0029a0002c0002a0002c0013others(46): Show | a0001c0029t0001a0002c0002t0001a0002c0013t0001others(46): Show | a0001c0029t0001g0083 a0002c0002t0001g0146 a0002c0002t0001g0151 others(85): Show |
88 | 214 | 0.4112 | 5 | c.317 others(24): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 19/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 36168017 | A | AATAAC | intron_variant | MODIFIER | HG01099.hp1 HG01256.hp1 HG01346.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0078 others(2): Show |
5 | 214 | 0.0234 | 5 | c.602 others(24): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 39/63 | chrX | TogoVar | |||||||
CFAP47_chrX_35914734_36390317 | 36330236 | A | AACCAG | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00621.hp1 others(56): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0029a0002c0002others(24): Show | a0001c0001t0001a0001c0029t0001a0002c0002t0001others(24): Show | a0001c0001t0001g0084 a0001c0029t0001g0083 a0002c0002t0001g0146 others(56): Show |
59 | 214 | 0.2757 | 5 | c.844 others(26): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 57/63 | chrX | TogoVar | |||||||
CFAP52_chr17_9571642_9648447 | 9589801 | C | CTTTTT | intron_variant | MODIFIER | HG02055.hp2 HG02145.hp2 HG02630.hp1 others(4): Show |
a0001a0002 | a0001c0002a0001c0005a0001c0012others(1): Show | a0001c0002t0001a0001c0005t0001a0001c0012t0001others(2): Show | a0001c0002t0001g0077 a0001c0002t0001g0277 a0001c0005t0001g0075 others(4): Show |
7 | 11 | 0.6364 | 5 | c.407 others(22): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CFAP52_chr17_9571642_9648447 | 9636187 | G | GAAAGA | intron_variant | MODIFIER | HG01243.hp2 HG01496.hp1 HG01884.hp1 others(19): Show |
a0001a0002a0007 | a0001c0002a0002c0001a0007c0013 | a0001c0002t0001a0002c0001t0001a0007c0013t0001 | a0001c0002t0001g0006 a0001c0002t0001g0011 a0001c0002t0001g0017 others(19): Show |
22 | 314 | 0.0701 | 5 | c.147 others(22): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CFAP53_chr18_50222193_50271495 | 50227955 | C | CTTTTT | intron_variant | MODIFIER | HG01069.hp2 HG01167.hp1 HG01168.hp1 others(9): Show |
a0001a0002a0003 | a0001c0001a0001c0014a0002c0002others(1): Show | a0001c0001t0001a0001c0014t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0067 a0001c0001t0001g0188 a0001c0001t0001g0204 others(9): Show |
12 | 28 | 0.4286 | 5 | c.131 others(22): Show |
CFAP53 | ENSG00000172361.6 | transcript | ENST00000398545.5 | protein_coding | 7/7 | chr18 | TogoVar | |||||||
CFAP53_chr18_50222193_50271495 | 50237325 | A | ATATAT | intron_variant | MODIFIER | HG00280.hp1 HG00621.hp2 HG02965.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 a0001c0001t0001g0155 a0001c0001t0001g0247 others(2): Show |
5 | 390 | 0.0128 | 5 | c.131 others(24): Show |
CFAP53 | ENSG00000172361.6 | transcript | ENST00000398545.5 | protein_coding | 7/7 | chr18 | TogoVar | |||||||
CFAP53_chr18_50222193_50271495 | 50237327 | A | ATATAT | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00423.hp2 others(30): Show |
a0001a0010 | a0001c0001a0001c0006a0001c0017others(1): Show | a0001c0001t0001a0001c0006t0001a0001c0017t0001others(1): Show | a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0018 others(25): Show |
33 | 361 | 0.0914 | 5 | c.131 others(24): Show |
CFAP53 | ENSG00000172361.6 | transcript | ENST00000398545.5 | protein_coding | 7/7 | chr18 | TogoVar | |||||||
CFAP53_chr18_50222193_50271495 | 50237329 | A | AAATAT | intron_variant | MODIFIER | HG01081.hp2 NA18949.hp1 NA18971.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0237 others(5): Show |
11 | 61 | 0.1803 | 5 | c.131 others(24): Show |
CFAP53 | ENSG00000172361.6 | transcript | ENST00000398545.5 | protein_coding | 7/7 | chr18 | TogoVar | |||||||
CFAP53_chr18_50222193_50271495 | 50237329 | A | ATATAT | intron_variant | MODIFIER | HG01943.hp2 HG02015.hp1 NA18980.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 a0001c0001t0001g0217 a0001c0001t0001g0230 others(3): Show |
6 | 56 | 0.1071 | 5 | c.131 others(24): Show |
CFAP53 | ENSG00000172361.6 | transcript | ENST00000398545.5 | protein_coding | 7/7 | chr18 | TogoVar | |||||||
CFAP54_chr12_96484577_96880555 | 96484863 | G | GGTTTT | upstream_gene_variant | MODIFIER | HG02486.hp1 HG02559.hp1 HG02970.hp2 others(1): Show |
a0003a0009a0040others(1): Show | a0003c0073a0009c0028a0040c0079others(1): Show | a0003c0073t0001a0009c0028t0001a0040c0079t0001others(1): Show | a0003c0073t0001g0214 a0009c0028t0001g0180 a0040c0079t0001g0184 others(1): Show |
4 | 67 | 0.0597 | 5 | c.-47 others(16): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 4713 | chr12 | TogoVar | |||||||
CFAP54_chr12_96484577_96880555 | 96484863 | G | GTTTTT | upstream_gene_variant | MODIFIER | HG00423.hp2 HG02486.hp2 HG03704.hp1 others(7): Show |
a0008a0012a0015others(1): Show | a0008c0008a0012c0021a0015c0100others(1): Show | a0008c0008t0001a0012c0021t0001a0015c0100t0001others(1): Show | a0008c0008t0001g0197 a0008c0008t0001g0198 a0008c0008t0001g0199 others(7): Show |
10 | 73 | 0.1370 | 5 | c.-47 others(16): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 4713 | chr12 | TogoVar | |||||||
CFAP54_chr12_96484577_96880555 | 96486094 | C | CTTTTT | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00558.hp1 others(43): Show |
a0001a0002a0004others(9): Show | a0001c0001a0001c0086a0002c0003others(14): Show | a0001c0001t0001a0001c0086t0001a0002c0003t0001others(15): Show | a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0086t0001g0146 others(43): Show |
46 | 266 | 0.1729 | 5 | c.-35 others(16): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 3482 | chr12 | TogoVar | |||||||
CFAP54_chr12_96484577_96880555 | 96486105 | T | TTTTCC | upstream_gene_variant | MODIFIER | HG03195.hp1 HG03486.hp2 HG03516.hp1 |
a0004a0016 | a0004c0082a0016c0014 | a0004c0082t0001a0016c0014t0001 | a0004c0082t0001g0167 a0016c0014t0001g0163 a0016c0014t0001g0166 |
3 | 220 | 0.0136 | 5 | c.-35 others(16): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 3471 | chr12 | TogoVar | |||||||
CFAP54_chr12_96484577_96880555 | 96499947 | A | AAAAAC | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00597.hp1 others(47): Show |
a0002a0003a0004others(13): Show | a0002c0032a0003c0002a0003c0016others(19): Show | a0002c0032t0001a0003c0002t0001a0003c0002t0004others(20): Show | a0002c0032t0001g0216 a0003c0002t0001g0210 a0003c0002t0001g0211 others(47): Show |
50 | 184 | 0.2717 | 5 | c.318 others(20): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 1/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96536965 | G | GTTCAA | intron_variant | MODIFIER | HG00423.hp2 HG01081.hp2 HG01099.hp1 others(25): Show |
a0008a0009a0011others(7): Show | a0008c0008a0009c0019a0009c0028others(11): Show | a0008c0008t0001a0009c0019t0001a0009c0028t0001others(12): Show | a0008c0008t0001g0197 a0008c0008t0001g0198 a0008c0008t0001g0199 others(25): Show |
28 | 266 | 0.1053 | 5 | c.179 others(24): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 12/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96536987 | A | ACAATT | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00423.hp2 others(75): Show |
a0003a0008a0009others(16): Show | a0003c0002a0003c0016a0003c0033others(28): Show | a0003c0002t0001a0003c0002t0004a0003c0016t0001others(29): Show | a0003c0002t0001g0210 a0003c0002t0001g0211 a0003c0002t0001g0219 others(75): Show |
78 | 207 | 0.3768 | 5 | c.179 others(24): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 12/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96537006 | T | TTCAAG | intron_variant | MODIFIER | HG01891.hp2 HG02145.hp1 |
a0015a0037 | a0015c0030a0037c0099 | a0015c0030t0003a0037c0099t0003 | a0015c0030t0003g0194 a0037c0099t0003g0195 |
2 | 266 | 0.0075 | 5 | c.179 others(24): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 12/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96647472 | C | CAAAAA | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG00609.hp2 others(21): Show |
a0002a0004a0007others(6): Show | a0002c0003a0002c0007a0002c0032others(11): Show | a0002c0003t0001a0002c0007t0001a0002c0032t0001others(11): Show | a0002c0003t0001g0121 a0002c0003t0001g0126 a0002c0003t0001g0127 others(21): Show |
24 | 97 | 0.2474 | 5 | c.454 others(22): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 33/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96733542 | G | GTTTTT | intron_variant | MODIFIER | HG01123.hp2 HG01358.hp1 HG01975.hp2 others(2): Show |
a0005 | a0005c0004a0005c0015 | a0005c0004t0001a0005c0015t0001 | a0005c0004t0001g0009 a0005c0004t0001g0011 a0005c0004t0001g0013 others(2): Show |
5 | 51 | 0.0980 | 5 | c.696 others(24): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 50/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96738608 | C | CTTTTT | intron_variant | MODIFIER | HG00544.hp2 HG01123.hp2 HG01358.hp1 others(14): Show |
a0005a0055a0057 | a0005c0004a0005c0015a0005c0020others(3): Show | a0005c0004t0001a0005c0015t0001a0005c0020t0001others(3): Show | a0005c0004t0001g0009 a0005c0004t0001g0011 a0005c0004t0001g0012 others(14): Show |
17 | 39 | 0.4359 | 5 | c.696 others(24): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 50/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96827814 | A | ATATAT | intron_variant | MODIFIER | HG00544.hp2 HG01123.hp2 HG01358.hp1 others(17): Show |
a0005a0055a0057 | a0005c0004a0005c0015a0005c0020others(3): Show | a0005c0004t0001a0005c0015t0001a0005c0020t0001others(3): Show | a0005c0004t0001g0009 a0005c0004t0001g0011 a0005c0004t0001g0012 others(17): Show |
20 | 265 | 0.0755 | 5 | c.909 others(24): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 65/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96827865 | A | ATATAT | intron_variant | MODIFIER | HG00544.hp2 HG01123.hp2 HG01358.hp1 others(17): Show |
a0005a0055a0057 | a0005c0004a0005c0015a0005c0020others(3): Show | a0005c0004t0001a0005c0015t0001a0005c0020t0001others(3): Show | a0005c0004t0001g0009 a0005c0004t0001g0011 a0005c0004t0001g0012 others(17): Show |
20 | 266 | 0.0752 | 5 | c.909 others(24): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 65/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96874612 | C | CTTTTT | intron_variant | MODIFIER | HG00621.hp2 HG01123.hp1 HG01175.hp1 others(6): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0003a0003c0002others(5): Show | a0001c0001t0001a0002c0003t0001a0003c0002t0001others(5): Show | a0001c0001t0001g0075 a0001c0001t0001g0087 a0002c0003t0001g0126 others(6): Show |
9 | 158 | 0.0570 | 5 | c.*15 others(20): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 67/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP57_chr1_43167330_43259358 | 43175492 | T | TTTTTA | intron_variant | MODIFIER | HG00140.hp2 HG00733.hp2 HG00741.hp1 others(33): Show |
a0001a0002a0004others(3): Show | a0001c0020a0002c0003a0002c0031others(4): Show | a0001c0020t0002a0002c0003t0002a0002c0031t0002others(4): Show | a0001c0020t0002g0293 a0002c0003t0002g0006 a0002c0003t0002g0007 others(31): Show |
36 | 298 | 0.1208 | 5 | c.157 others(22): Show |
CFAP57 | ENSG00000243710.8 | transcript | ENST00000372492.9 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFAP57_chr1_43167330_43259358 | 43180239 | A | ATATAT | intron_variant | MODIFIER | HG00609.hp1 HG00639.hp1 HG00738.hp1 others(20): Show |
a0003a0013a0018 | a0003c0002a0003c0004a0013c0033others(1): Show | a0003c0002t0001a0003c0004t0001a0013c0033t0001others(1): Show | a0003c0002t0001g0009 a0003c0002t0001g0203 a0003c0002t0001g0235 others(20): Show |
23 | 262 | 0.0878 | 5 | c.158 others(22): Show |
CFAP57 | ENSG00000243710.8 | transcript | ENST00000372492.9 | protein_coding | 2/22 | chr1 | TogoVar | |||||||
CFAP57_chr1_43167330_43259358 | 43203171 | T | TCAAAA | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01255.hp2 others(31): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0015a0001c0024others(3): Show | a0001c0001t0001a0001c0015t0001a0001c0024t0001others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 others(28): Show |
34 | 306 | 0.1111 | 5 | c.154 others(24): Show |
CFAP57 | ENSG00000243710.8 | transcript | ENST00000372492.9 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFAP57_chr1_43167330_43259358 | 43236590 | T | TAAAAA | intron_variant | MODIFIER | HG00438.hp1 HG00642.hp1 HG00738.hp2 others(36): Show |
a0001a0002a0006others(5): Show | a0001c0001a0001c0009a0001c0020others(11): Show | a0001c0001t0001a0001c0009t0001a0001c0020t0002others(11): Show | a0001c0001t0001g0086 a0001c0001t0001g0095 a0001c0001t0001g0104 others(35): Show |
39 | 56 | 0.6964 | 5 | c.340 others(24): Show |
CFAP57 | ENSG00000243710.8 | transcript | ENST00000372492.9 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20064032 | A | ACCCCC | intron_variant | MODIFIER | HG00323.hp1 HG01071.hp1 HG01071.hp2 others(18): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0007others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0002g0198 others(18): Show |
21 | 153 | 0.1373 | 5 | c.144 others(22): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20098607 | C | CAAAAA | intron_variant | MODIFIER | HG00639.hp2 HG01168.hp2 HG01884.hp1 others(12): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0024a0001c0039others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(9): Show | a0001c0001t0002g0050 a0001c0001t0002g0057 a0001c0001t0003g0127 others(12): Show |
15 | 40 | 0.3750 | 5 | c.700 others(18): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20151829 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(123): Show |
a0001a0002a0004others(13): Show | a0001c0001a0001c0003a0001c0006others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(44): Show | a0001c0001t0001g0028 a0001c0001t0001g0078 a0001c0001t0001g0079 others(123): Show |
126 | 173 | 0.7283 | 5 | c.952 others(22): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 9/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20166741 | C | CTGTTA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(179): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0003a0001c0006others(35): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(63): Show | a0001c0001t0001g0028 a0001c0001t0001g0078 a0001c0001t0001g0079 others(179): Show |
182 | 234 | 0.7778 | 5 | c.124 others(22): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 12/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20253144 | A | ATTTTC | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(106): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0003a0001c0006others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0040 a0001c0001t0001g0154 a0001c0001t0001g0157 others(106): Show |
109 | 162 | 0.6728 | 5 | c.232 others(24): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20253159 | C | CTTTTA | intron_variant | MODIFIER | HG01123.hp2 HG01928.hp2 NA18942.hp1 |
a0002a0016 | a0002c0002a0016c0041 | a0002c0002t0001a0002c0002t0004a0016c0041t0001 | a0002c0002t0001g0189 a0002c0002t0004g0001 a0016c0041t0001g0210 |
3 | 234 | 0.0128 | 5 | c.232 others(24): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20253952 | T | TCCTCC | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00423.hp2 others(20): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0003a0001c0007others(10): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(14): Show | a0001c0001t0003g0060 a0001c0001t0004g0014 a0001c0001t0005g0171 others(20): Show |
23 | 171 | 0.1345 | 5 | c.232 others(24): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |