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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFAP57_chr1_43167330_43259358 | 43217830 | C | CTTTGAGC others(7): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03098.hp2 NA20300.hp2 |
a0002 | a0002c0005 | a0002c0005t0001a0002c0005t0003 | a0002c0005t0001g0057 a0002c0005t0003g0055 a0002c0005t0003g0058 |
3 | 308 | 0.0097 | 14 | c.209 others(33): Show |
CFAP57 | ENSG00000243710.8 | transcript | ENST00000372492.9 | protein_coding | 12/22 | chr1 | TogoVar | |||||||
CFAP58_chr10_104348833_104460102 | 104357998 | C | CATATATA others(7): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0019 | 1 | 308 | 0.0033 | 14 | c.10- others(27): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CFAP58_chr10_104348833_104460102 | 104383753 | A | AACACACA others(7): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01255.hp1 HG01256.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0051 others(8): Show |
11 | 308 | 0.0357 | 14 | c.136 others(33): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CFAP58_chr10_104348833_104460102 | 104396369 | T | TGAGAGAG others(7): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 308 | 0.0033 | 14 | c.167 others(33): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CFAP58_chr10_104348833_104460102 | 104453761 | A | AGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0008 | a0008c0018 | a0008c0018t0001 | a0008c0018t0001g0288 | 1 | 308 | 0.0033 | 14 | c.251 others(31): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CFAP58_chr10_104348833_104460102 | 104458624 | A | ATATATAT others(7): Show |
downstream_gene_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 308 | 0.0033 | 14 | c.*40 others(25): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 3523 | chr10 | TogoVar | |||||||
CFAP61_chr20_20047532_20365698 | 20106000 | C | CTATACAT others(7): Show |
intron_variant | MODIFIER | NA18942.hp1 NA18945.hp2 NA19070.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0004a0002c0002t0004 | a0001c0001t0002g0067 a0001c0001t0004g0010 a0002c0002t0004g0001 |
3 | 236 | 0.0127 | 14 | c.859 others(31): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 8/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20181276 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(8): Show |
a0002a0009 | a0002c0002a0002c0004a0009c0014 | a0002c0002t0002a0002c0002t0003a0002c0002t0007others(4): Show | a0002c0002t0002g0039 a0002c0002t0002g0081 a0002c0002t0002g0097 others(8): Show |
11 | 236 | 0.0466 | 14 | c.138 others(33): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 13/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20269146 | T | TATATACA others(7): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02300.hp2 |
a0001a0014 | a0001c0003a0014c0030 | a0001c0003t0001a0014c0030t0002 | a0001c0003t0001g0196 a0014c0030t0002g0056 |
2 | 236 | 0.0085 | 14 | c.250 others(33): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20269146 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG00099.hp2 HG02630.hp1 HG03209.hp1 others(1): Show |
a0001 | a0001c0003a0001c0012a0001c0047 | a0001c0003t0002a0001c0003t0003a0001c0012t0002others(1): Show | a0001c0003t0002g0112 a0001c0003t0003g0142 a0001c0012t0002g0172 others(1): Show |
4 | 236 | 0.0170 | 14 | c.250 others(33): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20269146 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0202 | 1 | 236 | 0.0042 | 14 | c.250 others(33): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20304272 | C | CTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01928.hp2 HG02896.hp2 others(3): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0002c0009others(2): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(3): Show | a0001c0001t0001g0213 a0001c0001t0004g0014 a0002c0002t0001g0029 others(3): Show |
6 | 236 | 0.0254 | 14 | c.342 others(33): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20327777 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG02486.hp2 HG03540.hp1 |
a0001a0004 | a0001c0039a0004c0013 | a0001c0039t0003a0004c0013t0003 | a0001c0039t0003g0125 a0004c0013t0003g0048 |
2 | 236 | 0.0085 | 14 | c.342 others(35): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP65_chr2_218997846_219046516 | 219000327 | C | CTGTGTGT others(7): Show |
downstream_gene_variant | MODIFIER | HG02559.hp1 HG02615.hp2 HG02630.hp2 |
a0008a0013 | a0008c0010a0013c0021 | a0008c0010t0003a0013c0021t0001 | a0008c0010t0003g0041 a0013c0021t0001g0046 a0013c0021t0001g0048 |
3 | 322 | 0.0093 | 14 | c.*26 others(25): Show |
CFAP65 | ENSG00000181378.14 | transcript | ENST00000341552.10 | protein_coding | 2518 | chr2 | TogoVar | |||||||
CFAP68_chr11_111874541_111890975 | 111886719 | C | CATATATA others(7): Show |
downstream_gene_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 392 | 0.0026 | 14 | c.*28 others(25): Show |
CFAP68 | ENSG00000137720.8 | transcript | ENST00000260276.8 | protein_coding | 745 | chr11 | TogoVar | |||||||
CFAP69_chr7_90240174_90316063 | 90250187 | G | GGAGAGAG others(7): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01175.hp2 HG01255.hp2 others(3): Show |
a0001a0005 | a0001c0002a0005c0009 | a0001c0002t0002a0005c0009t0002 | a0001c0002t0002g0134 a0001c0002t0002g0135 a0001c0002t0002g0136 others(3): Show |
6 | 338 | 0.0178 | 14 | c.120 others(31): Show |
CFAP69 | ENSG00000105792.19 | transcript | ENST00000389297.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CFAP70_chr10_73248762_73363864 | 73284739 | C | CATATATA others(7): Show |
intron_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 220 | 0.0046 | 14 | c.245 others(33): Show |
CFAP70 | ENSG00000156042.19 | transcript | ENST00000355577.9 | protein_coding | 20/27 | chr10 | TogoVar | |||||||
CFAP70_chr10_73248762_73363864 | 73290044 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp2 others(48): Show |
a0002a0004a0006others(2): Show | a0002c0002a0004c0004a0006c0013others(2): Show | a0002c0002t0001a0004c0004t0001a0006c0013t0001others(2): Show | a0002c0002t0001g0030 a0002c0002t0001g0032 a0002c0002t0001g0033 others(48): Show |
51 | 220 | 0.2318 | 14 | c.244 others(33): Show |
CFAP70 | ENSG00000156042.19 | transcript | ENST00000355577.9 | protein_coding | 20/27 | chr10 | TogoVar | |||||||
CFAP70_chr10_73248762_73363864 | 73309658 | A | ATTTTTTT others(7): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00558.hp2 others(49): Show |
a0002a0004a0006others(2): Show | a0002c0002a0002c0014a0004c0004others(3): Show | a0002c0002t0001a0002c0014t0001a0004c0004t0001others(3): Show | a0002c0002t0001g0022 a0002c0002t0001g0024 a0002c0002t0001g0026 others(49): Show |
52 | 220 | 0.2364 | 14 | c.146 others(31): Show |
CFAP70 | ENSG00000156042.19 | transcript | ENST00000355577.9 | protein_coding | 13/27 | chr10 | TogoVar | |||||||
CFAP70_chr10_73248762_73363864 | 73362980 | C | CAAAAAAA others(7): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 HG00621.hp2 HG01074.hp1 others(17): Show |
a0002a0004a0013 | a0002c0002a0004c0004a0013c0017 | a0002c0002t0001a0004c0004t0001a0013c0017t0001 | a0002c0002t0001g0030 a0002c0002t0001g0034 a0002c0002t0001g0045 others(17): Show |
20 | 220 | 0.0909 | 14 | c.-42 others(25): Show |
CFAP70 | ENSG00000156042.19 | transcript | ENST00000355577.9 | protein_coding | 4117 | chr10 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1948412 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0074 | 1 | 278 | 0.0036 | 14 | c.217 others(33): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 18/38 | chr1 | TogoVar | |||||||
CFAP77_chr9_132405211_132578319 | 132465587 | A | AGACACAC others(7): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 322 | 0.0031 | 14 | c.196 others(33): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP77_chr9_132405211_132578319 | 132485985 | C | CATATATA others(7): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0267 | 1 | 322 | 0.0031 | 14 | c.196 others(33): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP77_chr9_132405211_132578319 | 132486016 | A | ATATATAT others(7): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 322 | 0.0031 | 14 | c.196 others(33): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP77_chr9_132405211_132578319 | 132516590 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0116 | 1 | 322 | 0.0031 | 14 | c.524 others(33): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP77_chr9_132405211_132578319 | 132521778 | T | TTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0148 | 1 | 322 | 0.0031 | 14 | c.525 others(33): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP77_chr9_132405211_132578319 | 132529507 | T | TAAAAAAA others(7): Show |
intron_variant | MODIFIER | NA19078.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 322 | 0.0031 | 14 | c.525 others(31): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP77_chr9_132405211_132578319 | 132561604 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 322 | 0.0031 | 14 | c.733 others(33): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP91_chr3_119698022_119772102 | 119707732 | G | GATATATA others(7): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02109.hp2 NA21309.hp2 |
a0001a0006 | a0001c0002a0001c0007a0006c0010 | a0001c0002t0022a0001c0007t0008a0006c0010t0017 | a0001c0002t0022g0099 a0001c0007t0008g0028 a0006c0010t0017g0029 |
3 | 386 | 0.0078 | 14 | c.359 others(29): Show |
CFAP91 | ENSG00000183833.16 | transcript | ENST00000273390.9 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CFAP91_chr3_119698022_119772102 | 119730601 | A | AGTGTGTG others(7): Show |
intron_variant | MODIFIER | NA19001.hp2 | a0018 | a0018c0016 | a0018c0016t0001 | a0018c0016t0001g0248 | 1 | 386 | 0.0026 | 14 | c.101 others(31): Show |
CFAP91 | ENSG00000183833.16 | transcript | ENST00000273390.9 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CFAP91_chr3_119698022_119772102 | 119738332 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG01943.hp1 HG02135.hp2 HG02523.hp1 others(3): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0004c0006t0001 | a0001c0001t0001g0187 a0001c0001t0001g0205 a0001c0001t0001g0222 others(3): Show |
6 | 386 | 0.0155 | 14 | c.146 others(31): Show |
CFAP91 | ENSG00000183833.16 | transcript | ENST00000273390.9 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CFAP91_chr3_119698022_119772102 | 119740835 | T | TTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02083.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0037 a0001c0002t0002g0091 |
2 | 386 | 0.0052 | 14 | c.168 others(31): Show |
CFAP91 | ENSG00000183833.16 | transcript | ENST00000273390.9 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CFAP92_chr3_128904873_128999076 | 128996729 | G | GCAGCAGA others(7): Show |
upstream_gene_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 342 | 0.0029 | 14 | c.-27 others(25): Show |
CFAP92 | ENSG00000114656.13 | transcript | ENST00000645291.3 | protein_coding | 2654 | chr3 | TogoVar | |||||||
CFAP95_chr9_69815817_69911227 | 69820432 | G | GACACACA others(7): Show |
upstream_gene_variant | MODIFIER | HG02273.hp2 HG02559.hp1 NA19074.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0315 a0001c0001t0001g0349 a0001c0002t0001g0290 others(1): Show |
4 | 380 | 0.0105 | 14 | c.-44 others(23): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 384 | chr9 | TogoVar | |||||||
CFAP95_chr9_69815817_69911227 | 69832620 | A | ATTTTTTT others(7): Show |
intron_variant | MODIFIER | NA18747.hp1 NA19082.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 a0001c0001t0001g0062 |
2 | 380 | 0.0053 | 14 | c.152 others(33): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP95_chr9_69815817_69911227 | 69841164 | T | TTATATAT others(7): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01069.hp2 HG01071.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0089 a0001c0001t0001g0214 a0001c0001t0001g0215 others(16): Show |
19 | 380 | 0.0500 | 14 | c.153 others(31): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP95_chr9_69815817_69911227 | 69843494 | T | TCCTCCTC others(7): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0008 | a0008c0015 | a0008c0015t0001 | a0008c0015t0001g0176 | 1 | 380 | 0.0026 | 14 | c.153 others(31): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP95_chr9_69815817_69911227 | 69895369 | C | CTCTCTGT others(7): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG01255.hp2 others(16): Show |
a0001a0007 | a0001c0001a0001c0002a0007c0009 | a0001c0001t0001a0001c0002t0001a0007c0009t0001 | a0001c0001t0001g0136 a0001c0001t0001g0183 a0001c0001t0001g0185 others(16): Show |
19 | 380 | 0.0500 | 14 | c.507 others(31): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP95_chr9_69815817_69911227 | 69895369 | C | CTCTGTGT others(7): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0330 | 1 | 380 | 0.0026 | 14 | c.507 others(31): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP95_chr9_69815817_69911227 | 69895369 | C | CTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG01361.hp2 NA18984.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 a0001c0001t0001g0200 |
2 | 380 | 0.0053 | 14 | c.507 others(31): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP97D2_chr13_114174257_114228085 | 114176897 | G | GCTAGTAC others(7): Show |
upstream_gene_variant | MODIFIER | HG00642.hp2 HG01361.hp2 HG01993.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0010 a0001c0001t0006g0033 a0001c0001t0006g0340 others(9): Show |
15 | 400 | 0.0375 | 14 | c.-24 others(25): Show |
CFAP97D2 | ENSG00000283361.3 | transcript | ENST00000636692.2 | protein_coding | 2359 | chr13 | TogoVar | |||||||
CFAP97D2_chr13_114174257_114228085 | 114177124 | G | GCCGTGGG others(7): Show |
upstream_gene_variant | MODIFIER | HG00642.hp2 HG01361.hp2 HG01993.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0010 a0001c0001t0006g0033 a0001c0001t0006g0340 others(9): Show |
15 | 400 | 0.0375 | 14 | c.-22 others(25): Show |
CFAP97D2 | ENSG00000283361.3 | transcript | ENST00000636692.2 | protein_coding | 2132 | chr13 | TogoVar | |||||||
CFAP97D2_chr13_114174257_114228085 | 114210855 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG02165.hp1 HG02523.hp1 HG02818.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0216 a0001c0001t0003g0139 a0001c0001t0003g0160 |
3 | 400 | 0.0075 | 14 | c.290 others(33): Show |
CFAP97D2 | ENSG00000283361.3 | transcript | ENST00000636692.2 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CFAP97_chr4_185154665_185209000 | 185198789 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00544.hp2 others(138): Show |
a0001a0002a0003others(3): Show | a0001c0004a0001c0005a0001c0007others(8): Show | a0001c0004t0010a0001c0004t0014a0001c0005t0005others(12): Show | a0001c0004t0010g0143 a0001c0004t0010g0144 a0001c0004t0010g0146 others(113): Show |
141 | 350 | 0.4029 | 14 | c.-17 others(31): Show |
CFAP97 | ENSG00000164323.15 | transcript | ENST00000458385.7 | protein_coding | 1/4 | chr4 | TogoVar | |||||||
CFAP99_chr4_2413955_2468002 | 2415451 | T | TACACACA others(7): Show |
upstream_gene_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG00597.hp2 others(27): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0001c0004others(6): Show | a0001c0002t0001a0001c0002t0005a0001c0003t0001others(7): Show | a0001c0002t0001g0021 a0001c0002t0001g0131 a0001c0002t0001g0231 others(24): Show |
30 | 350 | 0.0857 | 14 | c.-36 others(25): Show |
CFAP99 | ENSG00000206113.12 | transcript | ENST00000635017.2 | protein_coding | 3503 | chr4 | TogoVar | |||||||
CFAP99_chr4_2413955_2468002 | 2440149 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01891.hp1 HG02896.hp2 others(4): Show |
a0001a0002a0012 | a0001c0002a0001c0006a0002c0005others(1): Show | a0001c0002t0001a0001c0006t0002a0002c0005t0002others(1): Show | a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0006t0002g0034 others(4): Show |
7 | 350 | 0.0200 | 14 | c.351 others(31): Show |
CFAP99 | ENSG00000206113.12 | transcript | ENST00000635017.2 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFB_chr6_31941095_31957084 | 31941814 | C | CTTTTTTT others(7): Show |
upstream_gene_variant | MODIFIER | HG02027.hp1 HG02132.hp2 NA18946.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 10 | 431 | 0.0232 | 14 | c.-44 others(25): Show |
CFB | ENSG00000243649.10 | transcript | ENST00000425368.7 | protein_coding | 4280 | chr6 | TogoVar | |||||||
CFC1_chr2_130587165_130604575 | 130603723 | C | CAAAAAAA others(7): Show |
upstream_gene_variant | MODIFIER | HG01175.hp1 NA20129.hp1 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0008 | 2 | 242 | 0.0083 | 14 | c.-44 others(25): Show |
CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 4149 | chr2 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75297145 | C | CGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01496.hp2 HG02258.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 a0001c0001t0001g0211 a0001c0001t0001g0216 others(4): Show |
7 | 314 | 0.0223 | 14 | c.810 others(31): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 6/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75306902 | C | CACACACA others(7): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 314 | 0.0032 | 14 | c.651 others(31): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar |