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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CERS4_chr19_8204370_8267421 | 8231851 | A | ATTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02976.hp1 HG02976.hp2 HG03710.hp1 |
a0001a0003 | a0001c0001a0001c0019a0003c0007 | a0001c0001t0002a0001c0019t0002a0003c0007t0009 | a0001c0001t0002g0003 a0001c0019t0002g0377 a0003c0007t0009g0387 |
3 | 418 | 0.0072 | 14 | c.-1- others(31): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CERS4_chr19_8204370_8267421 | 8240585 | A | AGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG01943.hp1 HG01943.hp2 HG02080.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0117 a0001c0001t0002g0316 a0001c0001t0002g0321 others(11): Show |
14 | 418 | 0.0335 | 14 | c.-1- others(31): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CERS4_chr19_8204370_8267421 | 8266863 | C | CAAAAAAA others(7): Show |
downstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0146 | 1 | 418 | 0.0024 | 14 | c.*47 others(25): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 4443 | chr19 | TogoVar | |||||||
CERS4_chr19_8204370_8267421 | 8267294 | C | CAAAAAAA others(7): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 HG02630.hp2 HG02922.hp2 others(4): Show |
a0001a0003a0012 | a0001c0002a0003c0004a0003c0007others(1): Show | a0001c0002t0001a0003c0004t0004a0003c0007t0004others(2): Show | a0001c0002t0001g0396 a0003c0004t0004g0275 a0003c0004t0004g0277 others(4): Show |
7 | 418 | 0.0168 | 14 | c.*51 others(25): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 4874 | chr19 | TogoVar | |||||||
CERS5_chr12_50124289_50172369 | 50140284 | A | ATTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0193 | 1 | 320 | 0.0031 | 14 | c.493 others(31): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 4/9 | chr12 | TogoVar | |||||||
CERS5_chr12_50124289_50172369 | 50148919 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0254 | 1 | 320 | 0.0031 | 14 | c.198 others(31): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 1/9 | chr12 | TogoVar | |||||||
CERS5_chr12_50124289_50172369 | 50148921 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0218 | 1 | 320 | 0.0031 | 14 | c.198 others(31): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 1/9 | chr12 | TogoVar | |||||||
CERS5_chr12_50124289_50172369 | 50148923 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0305 | 1 | 320 | 0.0031 | 14 | c.198 others(31): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 1/9 | chr12 | TogoVar | |||||||
CERS5_chr12_50124289_50172369 | 50148925 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | NA18962.hp1 NA18965.hp1 NA19084.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0296 a0001c0002t0002g0303 a0001c0002t0002g0308 |
3 | 320 | 0.0094 | 14 | c.198 others(31): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 1/9 | chr12 | TogoVar | |||||||
CERS5_chr12_50124289_50172369 | 50148927 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | HG03834.hp1 NA18943.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0300 a0001c0002t0002g0306 |
2 | 320 | 0.0063 | 14 | c.198 others(31): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 1/9 | chr12 | TogoVar | |||||||
CERS5_chr12_50124289_50172369 | 50156420 | C | CTATATAT others(7): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00621.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0106 a0001c0001t0001g0127 others(19): Show |
23 | 320 | 0.0719 | 14 | c.197 others(33): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 1/9 | chr12 | TogoVar | |||||||
CERS5_chr12_50124289_50172369 | 50156437 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0313 | 1 | 320 | 0.0031 | 14 | c.197 others(33): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 1/9 | chr12 | TogoVar | |||||||
CERS5_chr12_50124289_50172369 | 50161784 | G | GAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(64): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0014 others(61): Show |
67 | 320 | 0.2094 | 14 | c.197 others(31): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 1/9 | chr12 | TogoVar | |||||||
CERS5_chr12_50124289_50172369 | 50161784 | G | GAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 320 | 0.0031 | 14 | c.197 others(31): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 1/9 | chr12 | TogoVar | |||||||
CERS5_chr12_50124289_50172369 | 50168721 | C | CATGAGGT others(7): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(133): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0003c0006others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0014 others(130): Show |
136 | 320 | 0.4250 | 14 | c.-14 others(25): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 1353 | chr12 | TogoVar | |||||||
CERS5_chr12_50124289_50172369 | 50170566 | T | TATATACA others(7): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0200 | 1 | 320 | 0.0031 | 14 | c.-32 others(25): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 3198 | chr12 | TogoVar | |||||||
CERS6_chr2_168451272_168780134 | 168464174 | T | TTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG02257.hp2 HG03579.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009a0001c0001t0037 | a0001c0001t0002g0114 a0001c0001t0009g0044 a0001c0001t0037g0084 |
3 | 176 | 0.0171 | 14 | c.170 others(31): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168477173 | C | CAGAGAGA others(7): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0034 | 1 | 176 | 0.0057 | 14 | c.170 others(33): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168555722 | C | CTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02257.hp1 HG02630.hp2 others(1): Show |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0002a0001c0001t0019a0004c0003t0008 | a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0019g0163 others(1): Show |
4 | 176 | 0.0227 | 14 | c.277 others(31): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168559733 | T | TTATATAT others(7): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02717.hp2 HG03139.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(3): Show | a0001c0001t0002g0016 a0001c0001t0004g0125 a0001c0001t0006g0116 others(3): Show |
6 | 176 | 0.0341 | 14 | c.277 others(31): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 2/9 | chr2 | TogoVar | |||||||
CERS6_chr2_168451272_168780134 | 168620062 | C | CACACATA others(7): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0145 | 1 | 176 | 0.0057 | 14 | c.408 others(33): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168645142 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0087 | 1 | 176 | 0.0057 | 14 | c.465 others(33): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168665952 | C | CTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0030 | a0001c0001t0002g0009 a0001c0001t0030g0068 |
2 | 176 | 0.0114 | 14 | c.466 others(33): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168741812 | G | GCAGTAAC others(7): Show |
intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0136 | 1 | 176 | 0.0057 | 14 | c.846 others(33): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168746775 | G | GTATATAT others(7): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0068 | 1 | 176 | 0.0057 | 14 | c.846 others(33): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168746775 | G | GTATATAT others(7): Show |
intron_variant | MODIFIER | NA19076.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 176 | 0.0057 | 14 | c.846 others(33): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CERT1_chr5_75372775_75516629 | 75388599 | C | CATATATA others(7): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02886.hp2 NA19082.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007 | a0001c0001t0002g0201 a0001c0001t0003g0296 a0001c0001t0007g0228 |
3 | 336 | 0.0089 | 14 | c.128 others(31): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 12/16 | chr5 | TogoVar | |||||||
CES4A_chr16_66983589_67015417 | 67004359 | T | TGGGAGCC others(7): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02896.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0151 a0002c0002t0002g0152 |
2 | 306 | 0.0065 | 14 | c.108 others(31): Show |
CES4A | ENSG00000172824.17 | transcript | ENST00000648724.3 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CES5A_chr16_55841154_55880373 | 55854531 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01928.hp1 HG02056.hp2 others(8): Show |
a0004a0006a0009others(1): Show | a0004c0006a0004c0060a0006c0007others(2): Show | a0004c0006t0001a0004c0006t0005a0004c0060t0004others(3): Show | a0004c0006t0001g0345 a0004c0006t0001g0383 a0004c0006t0005g0148 others(7): Show |
11 | 449 | 0.0245 | 14 | c.112 others(33): Show |
CES5A | ENSG00000159398.16 | transcript | ENST00000290567.14 | protein_coding | 9/12 | chr16 | TogoVar | |||||||
CETN1_chr18_575380_587114 | 576446 | G | GGAAGGAA others(7): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG00639.hp2 HG01261.hp1 others(9): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0002g0000 a0001c0001t0004g0000 a0001c0001t0005g0000 others(2): Show |
12 | 422 | 0.0284 | 14 | c.-39 others(25): Show |
CETN1 | ENSG00000177143.5 | transcript | ENST00000327228.5 | protein_coding | 3933 | chr18 | TogoVar | |||||||
CFAP157_chr9_127701988_127721002 | 127720880 | T | TTCCCCCT others(7): Show |
downstream_gene_variant | MODIFIER | NA18992.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0019 | 1 | 354 | 0.0028 | 14 | c.*69 others(25): Show |
CFAP157 | ENSG00000160401.15 | transcript | ENST00000373295.7 | protein_coding | 4879 | chr9 | TogoVar | |||||||
CFAP157_chr9_127701988_127721002 | 127720881 | T | TCCCCTTT others(7): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 HG02155.hp2 HG02723.hp1 others(9): Show |
a0001a0003a0004others(2): Show | a0001c0003a0003c0004a0004c0005others(2): Show | a0001c0003t0025a0003c0004t0001a0003c0004t0005others(4): Show | a0001c0003t0025g0003 a0003c0004t0001g0039 a0003c0004t0005g0014 others(7): Show |
12 | 354 | 0.0339 | 14 | c.*69 others(25): Show |
CFAP157 | ENSG00000160401.15 | transcript | ENST00000373295.7 | protein_coding | 4880 | chr9 | TogoVar | |||||||
CFAP161_chr15_81129270_81154179 | 81146831 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | NA19002.hp2 NA19004.hp1 NA19084.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 a0001c0001t0001g0171 |
3 | 448 | 0.0067 | 14 | c.637 others(29): Show |
CFAP161 | ENSG00000156206.14 | transcript | ENST00000286732.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CFAP20DC_chr3_58737008_59055025 | 58751840 | A | AACACACA others(7): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0159 | 1 | 204 | 0.0049 | 14 | c.233 others(33): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 16/16 | chr3 | TogoVar | |||||||
CFAP20DC_chr3_58737008_59055025 | 58801050 | T | TGAGAGAG others(7): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0196 | 1 | 204 | 0.0049 | 14 | c.223 others(33): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 15/16 | chr3 | TogoVar | |||||||
CFAP20DC_chr3_58737008_59055025 | 58931654 | A | AGGCAAAT others(7): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0026 | 1 | 204 | 0.0049 | 14 | c.393 others(31): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 5/16 | chr3 | TogoVar | |||||||
CFAP20DC_chr3_58737008_59055025 | 58990754 | G | GGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03041.hp1 HG03225.hp1 others(3): Show |
a0002a0004 | a0002c0003a0004c0006 | a0002c0003t0001a0004c0006t0001 | a0002c0003t0001g0177 a0002c0003t0001g0181 a0002c0003t0001g0182 others(3): Show |
6 | 204 | 0.0294 | 14 | c.278 others(33): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 4/16 | chr3 | TogoVar | |||||||
CFAP20_chr16_58108592_58134381 | 58114525 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG02602.hp2 HG03688.hp2 NA18994.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0160 a0001c0001t0005g0077 a0001c0001t0005g0128 |
3 | 400 | 0.0075 | 14 | c.576 others(29): Show |
CFAP20 | ENSG00000070761.8 | transcript | ENST00000262498.8 | protein_coding | 5/5 | chr16 | TogoVar | |||||||
CFAP210_chr2_169640425_169699405 | 169650734 | C | CTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG02129.hp2 HG02630.hp1 HG03490.hp2 others(1): Show |
a0001a0005 | a0001c0001a0001c0008a0005c0005 | a0001c0001t0001a0001c0008t0001a0005c0005t0002 | a0001c0001t0001g0214 a0001c0008t0001g0133 a0005c0005t0002g0008 |
4 | 390 | 0.0103 | 14 | c.960 others(29): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 6/8 | chr2 | TogoVar | |||||||
CFAP221_chr2_119539449_119661661 | 119628294 | G | GGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01175.hp2 HG02258.hp1 others(16): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0006c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(2): Show | a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0122 others(16): Show |
19 | 226 | 0.0841 | 14 | c.165 others(31): Show |
CFAP221 | ENSG00000163075.13 | transcript | ENST00000413369.8 | protein_coding | 16/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CFAP251_chr12_121913592_122008919 | 121952240 | T | TAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02155.hp2 NA18939.hp1 others(7): Show |
a0003a0008 | a0003c0002a0008c0031 | a0003c0002t0001a0008c0031t0001 | a0003c0002t0001g0007 a0003c0002t0001g0011 a0003c0002t0001g0014 others(7): Show |
10 | 354 | 0.0283 | 14 | c.132 others(31): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP251_chr12_121913592_122008919 | 121978393 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG01109.hp1 others(8): Show |
a0001 | a0001c0003a0001c0005a0001c0007others(1): Show | a0001c0003t0001a0001c0005t0001a0001c0007t0001others(1): Show | a0001c0003t0001g0089 a0001c0003t0001g0091 a0001c0003t0001g0101 others(8): Show |
11 | 354 | 0.0311 | 14 | c.300 others(33): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP276_chr1_109100951_109117747 | 109113400 | G | GAGAGAGA others(7): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 NA18975.hp1 NA18983.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0010 a0001c0001t0001g0072 a0001c0001t0002g0025 |
5 | 404 | 0.0124 | 14 | c.-72 others(23): Show |
CFAP276 | ENSG00000179902.13 | transcript | ENST00000369948.8 | protein_coding | 654 | chr1 | TogoVar | |||||||
CFAP276_chr1_109100951_109117747 | 109113416 | A | AAGAGAGA others(7): Show |
upstream_gene_variant | MODIFIER | HG02080.hp2 HG02647.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0026 |
2 | 404 | 0.0050 | 14 | c.-75 others(23): Show |
CFAP276 | ENSG00000179902.13 | transcript | ENST00000369948.8 | protein_coding | 670 | chr1 | TogoVar | |||||||
CFAP276_chr1_109100951_109117747 | 109113451 | A | AGAGAGAG others(7): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG03017.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0052 |
2 | 404 | 0.0050 | 14 | c.-77 others(23): Show |
CFAP276 | ENSG00000179902.13 | transcript | ENST00000369948.8 | protein_coding | 705 | chr1 | TogoVar | |||||||
CFAP299_chr4_80330730_80968750 | 80364089 | A | AACACACA others(7): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 96 | 0.0104 | 14 | 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 | C | CATATATA others(7): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 96 | 0.0104 | 14 | c.243 others(33): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80581453 | G | GATATATA others(7): Show |
intron_variant | MODIFIER | HG00423.hp2 HG02615.hp1 HG02647.hp1 others(1): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0008 | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(1): Show | a0001c0001t0001g0024 a0001c0001t0002g0027 a0001c0004t0001g0094 others(1): Show |
4 | 96 | 0.0417 | 14 | 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 | 80799731 | T | TATATAAT others(7): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0022 | 1 | 96 | 0.0104 | 14 | 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 | 80866059 | T | TTATATAT others(7): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01168.hp2 HG01243.hp2 others(8): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(2): Show | a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0014 others(8): Show |
11 | 96 | 0.1146 | 14 | c.334 others(31): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |