regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CERS6_chr2_168451272_168780134 | 168593526 | G | GTGTTTTG others(3): Show |
intron_variant | MODIFIER | HG03209.hp2 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0130a0001c0001t0007g0170 | 2 | 176 | 0.0114 | 10 | c.407 others(29): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CERS6_chr2_168451272_168780134 | 168620014 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009 | 1 | 176 | 0.0057 | 10 | c.408 others(29): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CERS6_chr2_168451272_168780134 | 168620062 | C | CATATACA others(3): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0057 | 1 | 176 | 0.0057 | 10 | c.408 others(29): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CERS6_chr2_168451272_168780134 | 168645112 | A | AATATATA others(3): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0068 | 1 | 176 | 0.0057 | 10 | c.465 others(29): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CERS6_chr2_168451272_168780134 | 168645114 | A | AATATATA others(3): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 176 | 0.0057 | 10 | c.465 others(29): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CERS6_chr2_168451272_168780134 | 168645116 | A | AATATATA others(3): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 176 | 0.0057 | 10 | c.465 others(29): 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(3): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02647.hp1 HG02818.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0175a0001c0001t0002g0097a0001c0001t0003g0107others(4): Show | 7 | 176 | 0.0398 | 10 | c.466 others(29): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CERS6_chr2_168451272_168780134 | 168746775 | G | GTATATAT others(3): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02615.hp2 HG02647.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(2): Show | a0001c0001t0004g0047a0001c0001t0004g0085a0001c0001t0006g0129others(3): Show | 6 | 176 | 0.0341 | 10 | c.846 others(29): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CERS6_chr2_168451272_168780134 | 168746820 | T | TATATATA others(3): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0163 | 1 | 176 | 0.0057 | 10 | c.846 others(29): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CERS6_chr2_168451272_168780134 | 168752279 | A | ATGTGTGT others(3): Show |
intron_variant | MODIFIER | HG00280.hp1 HG02165.hp1 HG02559.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(3): Show | a0001c0001t0001g0089a0001c0001t0001g0132a0001c0001t0001g0147others(5): Show | 8 | 176 | 0.0455 | 10 | c.846 others(29): 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(3): Show |
intron_variant | MODIFIER | HG03195.hp2 NA18954.hp1 NA18977.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0193a0001c0001t0002g0239a0001c0001t0006g0256 | 3 | 336 | 0.0089 | 10 | c.128 others(27): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 12/16 | chr5 | TogoVar | ||||||
CERT1_chr5_75372775_75516629 | 75393602 | T | TAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG03704.hp1 NA18522.hp1 NA18964.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0010others(1): Show | a0001c0001t0002g0005a0001c0001t0003g0132a0001c0001t0010g0003others(1): Show | 4 | 336 | 0.0119 | 10 | c.118 others(29): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 11/16 | chr5 | TogoVar | ||||||
CERT1_chr5_75372775_75516629 | 75495563 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG02027.hp1 HG02056.hp1 HG02132.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0323a0001c0002t0009g0324a0001c0002t0009g0325others(3): Show | 6 | 336 | 0.0179 | 10 | c.231 others(29): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 2/16 | chr5 | TogoVar | ||||||
CES1_chr16_55797851_55838096 | 55798475 | A | AGAAAGAA others(3): Show |
downstream_gene_variant | MODIFIER | NA18953.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0071 | 1 | 87 | 0.0115 | 10 | c.*45 others(21): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 4375 | chr16 | TogoVar | ||||||
CES1_chr16_55797851_55838096 | 55809093 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(20): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0002others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0024a0001c0001t0001g0026others(19): Show | 23 | 87 | 0.2644 | 10 | c.131 others(29): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 11/13 | chr16 | TogoVar | ||||||
CES1_chr16_55797851_55838096 | 55819055 | G | GAATGGGT others(3): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0065 | 1 | 87 | 0.0115 | 10 | c.906 others(25): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 7/13 | chr16 | TogoVar | ||||||
CETN1_chr18_575380_587114 | 576446 | G | GGAAGGAA others(3): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00733.hp2 HG01243.hp2 others(36): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0001t0005g0000others(7): Show | 39 | 422 | 0.0924 | 10 | c.-39 others(21): Show |
CETN1 | ENSG00000177143.5 | transcript | ENST00000327228.5 | protein_coding | 3933 | chr18 | TogoVar | ||||||
CETP_chr16_56956950_56988845 | 56959862 | A | AGGGAGGG others(3): Show |
upstream_gene_variant | MODIFIER | NA18951.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0182 | 1 | 462 | 0.0022 | 10 | c.-21 others(21): Show |
CETP | ENSG00000087237.12 | transcript | ENST00000200676.8 | protein_coding | 2087 | chr16 | TogoVar | ||||||
CFAP100_chr3_126389909_126441556 | 126401397 | T | TTATATAT others(3): Show |
intron_variant | MODIFIER | HG02886.hp2 NA18988.hp1 NA19085.hp1 others(1): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0011 | a0001c0001t0001a0001c0002t0001a0006c0011t0002 | a0001c0001t0001g0118a0001c0001t0001g0352a0001c0002t0001g0050others(1): Show | 4 | 422 | 0.0095 | 10 | c.49+ others(25): Show |
CFAP100 | ENSG00000163885.12 | transcript | ENST00000352312.6 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CFAP100_chr3_126389909_126441556 | 126401397 | T | TTTTATAT others(3): Show |
intron_variant | MODIFIER | HG00099.hp1 NA18963.hp2 NA19011.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0053a0001c0001t0001g0289a0001c0001t0001g0333others(2): Show | 5 | 422 | 0.0119 | 10 | c.49+ others(25): Show |
CFAP100 | ENSG00000163885.12 | transcript | ENST00000352312.6 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CFAP100_chr3_126389909_126441556 | 126429765 | T | TTATACTT others(3): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0389 | 1 | 422 | 0.0024 | 10 | c.128 others(29): Show |
CFAP100 | ENSG00000163885.12 | transcript | ENST00000352312.6 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CFAP100_chr3_126389909_126441556 | 126440336 | C | CGGAGGAG others(3): Show |
downstream_gene_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0131 | 1 | 422 | 0.0024 | 10 | c.*39 others(21): Show |
CFAP100 | ENSG00000163885.12 | transcript | ENST00000352312.6 | protein_coding | 3781 | chr3 | TogoVar | ||||||
CFAP141_chr1_154194085_154211333 | 154203172 | A | AATATATA others(3): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01928.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082a0001c0001t0001g0083 | 2 | 372 | 0.0054 | 10 | c.74+ others(25): Show |
CFAP141 | ENSG00000163263.7 | transcript | ENST00000368525.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
CFAP161_chr15_81129270_81154179 | 81133221 | A | ATATATAT others(3): Show |
upstream_gene_variant | MODIFIER | NA18966.hp1 NA18966.hp2 NA19012.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0090a0001c0001t0001g0211 | 3 | 448 | 0.0067 | 10 | c.-11 others(21): Show |
CFAP161 | ENSG00000156206.14 | transcript | ENST00000286732.5 | protein_coding | 1048 | chr15 | TogoVar | ||||||
CFAP161_chr15_81129270_81154179 | 81146831 | A | AATATATA others(3): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00735.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041a0001c0001t0001g0095a0001c0001t0001g0202others(2): Show | 6 | 448 | 0.0134 | 10 | c.637 others(25): Show |
CFAP161 | ENSG00000156206.14 | transcript | ENST00000286732.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CFAP206_chr6_87402972_87469465 | 87432339 | C | CTGAGGCC others(3): Show |
intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0180 | 1 | 376 | 0.0027 | 10 | c.130 others(29): Show |
CFAP206 | ENSG00000272514.6 | transcript | ENST00000369562.9 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CFAP206_chr6_87402972_87469465 | 87448973 | C | CTACTCAC others(3): Show |
intron_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0181 | 1 | 376 | 0.0027 | 10 | c.149 others(31): Show |
CFAP206 | ENSG00000272514.6 | transcript | ENST00000369562.9 | protein_coding | 11/12 | chr6 | TogoVar | ||||||
CFAP206_chr6_87402972_87469465 | 87450475 | A | ATGTGTGT others(3): Show |
intron_variant | MODIFIER | HG01516.hp1 HG01952.hp2 HG01993.hp2 others(14): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0006 | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(1): Show | a0001c0001t0001g0113a0001c0001t0002g0039a0001c0001t0002g0063others(14): Show | 17 | 376 | 0.0452 | 10 | c.149 others(31): Show |
CFAP206 | ENSG00000272514.6 | transcript | ENST00000369562.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CFAP20DC_chr3_58737008_59055025 | 58751840 | A | AACACACA others(3): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0161 | 1 | 204 | 0.0049 | 10 | c.233 others(29): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 16/16 | chr3 | TogoVar | ||||||
CFAP20DC_chr3_58737008_59055025 | 58801050 | T | TGAGAGAG others(3): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01891.hp1 HG02451.hp1 others(4): Show |
a0003 | a0003c0004a0003c0007 | a0003c0004t0001a0003c0007t0001a0003c0007t0005 | a0003c0004t0001g0159a0003c0004t0001g0160a0003c0004t0001g0161others(4): Show | 7 | 204 | 0.0343 | 10 | c.223 others(29): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 15/16 | chr3 | TogoVar | ||||||
CFAP20DC_chr3_58737008_59055025 | 58825538 | A | AACACACA others(3): Show |
intron_variant | MODIFIER | HG00408.hp1 NA19063.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0017a0001c0002t0002g0024 | 2 | 204 | 0.0098 | 10 | c.217 others(29): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 14/16 | chr3 | TogoVar | ||||||
CFAP20DC_chr3_58737008_59055025 | 58859057 | G | GTAATACA others(3): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02074.hp1 HG02735.hp2 others(11): Show |
a0001a0008 | a0001c0002a0008c0011 | a0001c0002t0002a0008c0011t0002 | a0001c0002t0002g0012a0001c0002t0002g0013a0001c0002t0002g0016others(11): Show | 14 | 204 | 0.0686 | 10 | c.159 others(29): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 12/16 | chr3 | TogoVar | ||||||
CFAP20DC_chr3_58737008_59055025 | 58941327 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0201 | 1 | 204 | 0.0049 | 10 | c.279 others(27): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 4/16 | chr3 | TogoVar | ||||||
CFAP20DC_chr3_58737008_59055025 | 58963190 | T | TTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01515.hp2 HG01978.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0007a0001c0001t0001g0065a0001c0001t0001g0067others(8): Show | 11 | 204 | 0.0539 | 10 | c.279 others(29): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 4/16 | chr3 | TogoVar | ||||||
CFAP20DC_chr3_58737008_59055025 | 58971864 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG03453.hp2 HG03471.hp2 HG03516.hp1 |
a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0169a0004c0006t0001g0170a0004c0006t0001g0171 | 3 | 204 | 0.0147 | 10 | c.279 others(29): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 4/16 | chr3 | TogoVar | ||||||
CFAP20DC_chr3_58737008_59055025 | 58990754 | G | GGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02145.hp1 HG02451.hp1 others(12): Show |
a0001a0002a0003others(3): Show | a0001c0002a0002c0003a0002c0009others(5): Show | a0001c0002t0001a0002c0003t0001a0002c0009t0001others(5): Show | a0001c0002t0001g0188a0001c0002t0001g0199a0001c0002t0001g0200others(12): Show | 15 | 204 | 0.0735 | 10 | c.278 others(29): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 4/16 | chr3 | TogoVar | ||||||
CFAP210_chr2_169640425_169699405 | 169650734 | C | CTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG01099.hp1 others(29): Show |
a0001a0003a0004others(3): Show | a0001c0001a0003c0003a0004c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0003c0003t0002others(4): Show | a0001c0001t0001g0011a0001c0001t0001g0181a0001c0001t0002g0016others(25): Show | 32 | 390 | 0.0821 | 10 | c.960 others(25): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 6/8 | chr2 | TogoVar | ||||||
CFAP210_chr2_169640425_169699405 | 169652999 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0008 | a0008c0010 | a0008c0010t0001 | a0008c0010t0001g0300 | 1 | 390 | 0.0026 | 10 | c.959 others(27): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 6/8 | chr2 | TogoVar | ||||||
CFAP210_chr2_169640425_169699405 | 169653023 | A | AATATATA others(3): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0099 | 1 | 390 | 0.0026 | 10 | c.959 others(27): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 6/8 | chr2 | TogoVar | ||||||
CFAP210_chr2_169640425_169699405 | 169653027 | A | AATATATA others(3): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0313 | 1 | 390 | 0.0026 | 10 | c.959 others(27): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 6/8 | chr2 | TogoVar | ||||||
CFAP210_chr2_169640425_169699405 | 169692444 | G | GCGCACAC others(3): Show |
intron_variant | MODIFIER | HG03017.hp1 HG03942.hp2 NA18981.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0364a0001c0001t0001g0365a0001c0001t0001g0366 | 3 | 390 | 0.0077 | 10 | c.67+ others(25): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 1/8 | chr2 | TogoVar | ||||||
CFAP210_chr2_169640425_169699405 | 169698000 | T | TTAGGGGT others(3): Show |
upstream_gene_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 390 | 0.0026 | 10 | c.-36 others(21): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 3596 | chr2 | TogoVar | ||||||
CFAP221_chr2_119539449_119661661 | 119628294 | G | GGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG00733.hp1 HG00738.hp1 HG01109.hp1 others(15): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0002a0001c0001t0001g0121a0001c0001t0001g0137others(15): Show | 18 | 226 | 0.0797 | 10 | c.165 others(27): Show |
CFAP221 | ENSG00000163075.13 | transcript | ENST00000413369.8 | protein_coding | 16/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CFAP251_chr12_121913592_122008919 | 121928626 | G | GTATATAT others(3): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 354 | 0.0028 | 10 | c.748 others(27): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP251_chr12_121913592_122008919 | 121928626 | G | GTGTGTAT others(3): Show |
intron_variant | MODIFIER | HG03239.hp1 HG03834.hp1 HG04184.hp2 others(1): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0086a0002c0004t0001g0303a0002c0004t0001g0304others(1): Show | 4 | 354 | 0.0113 | 10 | c.748 others(27): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP251_chr12_121913592_122008919 | 121978393 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03516.hp2 |
a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0218a0005c0005t0001g0243 | 2 | 354 | 0.0057 | 10 | c.300 others(29): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP251_chr12_121913592_122008919 | 121979563 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(57): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0004a0002c0008others(4): Show | a0001c0001t0001a0002c0004t0001a0002c0008t0001others(5): Show | a0001c0001t0001g0140a0001c0001t0001g0160a0001c0001t0001g0167others(56): Show | 60 | 354 | 0.1695 | 10 | c.300 others(29): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP251_chr12_121913592_122008919 | 121998432 | A | AATATATA others(3): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0248 | 1 | 354 | 0.0028 | 10 | c.300 others(29): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP276_chr1_109100951_109117747 | 109113451 | A | AGAGAGGG others(3): Show |
upstream_gene_variant | MODIFIER | HG03453.hp1 HG03453.hp2 HG03486.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0011others(1): Show | 10 | 404 | 0.0248 | 10 | c.-77 others(19): Show |
CFAP276 | ENSG00000179902.13 | transcript | ENST00000369948.8 | protein_coding | 705 | chr1 | TogoVar | ||||||
CFAP276_chr1_109100951_109117747 | 109116680 | C | CTTCTGTT others(3): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 HG02451.hp1 HG02647.hp2 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0007a0002c0002t0001g0071 | 8 | 404 | 0.0198 | 10 | c.-40 others(21): Show |
CFAP276 | ENSG00000179902.13 | transcript | ENST00000369948.8 | protein_coding | 3934 | chr1 | TogoVar |