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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CERT1_chr5_75372775_75516629 | 75388599 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG00673.hp2 HG01081.hp1 HG01109.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0008 | a0001c0001t0002g0139a0001c0001t0002g0142a0001c0001t0002g0145others(10): Show | 13 | 336 | 0.0387 | -8 | c.128 others(25): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 12/16 | chr5 | TogoVar | ||||||
CERT1_chr5_75372775_75516629 | 75400794 | CCTTCATC others(1): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02559.hp1 HG02647.hp1 others(6): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0003a0003c0004t0003 | a0001c0001t0003g0131a0001c0001t0003g0132a0001c0001t0003g0175others(6): Show | 9 | 336 | 0.0268 | -8 | c.101 others(25): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 9/16 | chr5 | TogoVar | ||||||
CERT1_chr5_75372775_75516629 | 75478909 | TAAAAAAA others(1): Show |
T | intron_variant | MODIFIER | HG02027.hp1 HG02056.hp1 HG02132.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0323a0001c0002t0009g0324a0001c0002t0009g0325others(3): Show | 6 | 336 | 0.0179 | -8 | c.232 others(27): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 2/16 | chr5 | TogoVar | ||||||
CES1_chr16_55797851_55838096 | 55798424 | GGAAAGAA others(1): Show |
G | downstream_gene_variant | MODIFIER | HG00597.hp1 HG01169.hp2 HG01891.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(1): Show | a0001c0001t0001g0004a0001c0001t0001g0013a0001c0001t0001g0029others(6): Show | 10 | 87 | 0.1149 | -8 | c.*46 others(19): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 4426 | chr16 | TogoVar | ||||||
CES1_chr16_55797851_55838096 | 55825175 | AGAATGAA others(1): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG01515.hp2 HG02015.hp2 others(12): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0001g0017others(11): Show | 15 | 87 | 0.1724 | -8 | c.405 others(23): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 3/13 | chr16 | TogoVar | ||||||
CES4A_chr16_66983589_67015417 | 66997948 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(70): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0004others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0003others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0013others(34): Show | 73 | 306 | 0.2386 | -8 | c.260 others(25): Show |
CES4A | ENSG00000172824.17 | transcript | ENST00000648724.3 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CES5A_chr16_55841154_55880373 | 55842080 | TAGACAGA others(1): Show |
T | downstream_gene_variant | MODIFIER | HG02572.hp1 HG02630.hp1 HG02630.hp2 others(2): Show |
a0001a0002a0007others(1): Show | a0001c0002a0002c0003a0007c0020others(1): Show | a0001c0002t0004a0002c0003t0001a0007c0020t0001others(1): Show | a0001c0002t0004g0050a0002c0003t0001g0220a0007c0020t0001g0364others(2): Show | 5 | 449 | 0.0111 | -8 | c.*43 others(19): Show |
CES5A | ENSG00000159398.16 | transcript | ENST00000290567.14 | protein_coding | 4073 | chr16 | TogoVar | ||||||
CETN1_chr18_575380_587114 | 576446 | GAGGAAGG others(1): Show |
G | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02074.hp2 HG02135.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0001t0005g0000others(2): Show | 11 | 422 | 0.0261 | -8 | c.-39 others(19): Show |
CETN1 | ENSG00000177143.5 | transcript | ENST00000327228.5 | protein_coding | 3933 | chr18 | TogoVar | ||||||
CETP_chr16_56956950_56988845 | 56959938 | GGAAAGAA others(1): Show |
G | upstream_gene_variant | MODIFIER | HG00735.hp2 HG01070.hp1 HG01071.hp2 others(25): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0006others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(19): Show | 28 | 462 | 0.0606 | -8 | c.-20 others(19): Show |
CETP | ENSG00000087237.12 | transcript | ENST00000200676.8 | protein_coding | 2011 | chr16 | TogoVar | ||||||
CETP_chr16_56956950_56988845 | 56963990 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00558.hp1 others(80): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0002c0009others(5): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(7): Show | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0024others(49): Show | 83 | 462 | 0.1797 | -8 | c.233 others(23): Show |
CETP | ENSG00000087237.12 | transcript | ENST00000200676.8 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CFAP100_chr3_126389909_126441556 | 126401397 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG02895.hp2 HG02970.hp1 NA21309.hp2 |
a0001a0004 | a0001c0002a0004c0007a0004c0028 | a0001c0002t0001a0004c0007t0001a0004c0028t0001 | a0001c0002t0001g0073a0004c0007t0001g0139a0004c0028t0001g0140 | 3 | 422 | 0.0071 | -8 | c.49+ others(23): Show |
CFAP100 | ENSG00000163885.12 | transcript | ENST00000352312.6 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CFAP107_chr1_12741200_12768699 | 12757340 | CTTTTCTC others(1): Show |
C | intron_variant | MODIFIER | HG01175.hp2 NA19060.hp1 NA19240.hp2 |
a0002a0003 | a0002c0002a0003c0005 | a0002c0002t0003a0003c0005t0023 | a0002c0002t0003g0098a0002c0002t0003g0104a0003c0005t0023g0035 | 3 | 336 | 0.0089 | -8 | c.225 others(25): Show |
CFAP107 | ENSG00000157330.10 | transcript | ENST00000614859.5 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFAP141_chr1_154194085_154211333 | 154203172 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG01361.hp1 HG01515.hp1 HG01928.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0024a0001c0001t0001g0059a0001c0001t0001g0098others(2): Show | 8 | 372 | 0.0215 | -8 | c.74+ others(23): Show |
CFAP141 | ENSG00000163263.7 | transcript | ENST00000368525.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
CFAP144_chr1_43142904_43161396 | 43154062 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG01943.hp1 HG02145.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0008a0001c0001t0001g0050a0001c0001t0001g0051others(5): Show | 17 | 396 | 0.0429 | -8 | c.297 others(25): Show |
CFAP144 | ENSG00000186973.11 | transcript | ENST00000335282.5 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFAP144_chr1_43142904_43161396 | 43159927 | CAAAAAAA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG01069.hp1 HG01243.hp1 HG01884.hp1 others(14): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0010a0001c0001t0001g0026a0001c0001t0001g0041others(4): Show | 17 | 396 | 0.0429 | -8 | c.*36 others(19): Show |
CFAP144 | ENSG00000186973.11 | transcript | ENST00000335282.5 | protein_coding | 3532 | chr1 | TogoVar | ||||||
CFAP161_chr15_81129270_81154179 | 81146831 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG02132.hp1 HG03453.hp2 NA18945.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044a0001c0001t0001g0201a0001c0001t0001g0276others(1): Show | 5 | 448 | 0.0112 | -8 | c.637 others(23): Show |
CFAP161 | ENSG00000156206.14 | transcript | ENST00000286732.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CFAP206_chr6_87402972_87469465 | 87450475 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG02129.hp1 NA19011.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0293a0001c0001t0002g0057a0001c0001t0002g0061 | 3 | 376 | 0.0080 | -8 | c.149 others(29): Show |
CFAP206 | ENSG00000272514.6 | transcript | ENST00000369562.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CFAP20DC_chr3_58737008_59055025 | 58751860 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00639.hp1 others(48): Show |
a0001a0008 | a0001c0002a0008c0011 | a0001c0002t0002a0001c0002t0004a0008c0011t0002 | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0002g0008others(48): Show | 51 | 204 | 0.2500 | -8 | c.233 others(27): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 16/16 | chr3 | TogoVar | ||||||
CFAP20DC_chr3_58737008_59055025 | 58799733 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00639.hp1 others(53): Show |
a0001a0003a0008 | a0001c0002a0001c0005a0003c0007others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(4): Show | a0001c0002t0001g0201a0001c0002t0002g0005a0001c0002t0002g0006others(53): Show | 56 | 204 | 0.2745 | -8 | c.223 others(27): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 15/16 | chr3 | TogoVar | ||||||
CFAP20DC_chr3_58737008_59055025 | 58856265 | GACACACA others(1): Show |
G | intron_variant | MODIFIER | HG02622.hp2 HG02895.hp1 HG02897.hp2 others(2): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0001a0001c0005t0001 | a0001c0002t0001g0188a0001c0005t0001g0056a0001c0005t0001g0057others(2): Show | 5 | 204 | 0.0245 | -8 | c.159 others(27): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 12/16 | chr3 | TogoVar | ||||||
CFAP20DC_chr3_58737008_59055025 | 58889526 | TTTTTTTT others(1): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG01109.hp2 HG01243.hp2 others(38): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0012others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0012t0002others(9): Show | a0001c0001t0001g0049a0001c0001t0001g0097a0001c0001t0001g0098others(38): Show | 41 | 204 | 0.2010 | -8 | c.551 others(25): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 6/16 | chr3 | TogoVar | ||||||
CFAP20DC_chr3_58737008_59055025 | 58963190 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG02145.hp1 NA18977.hp2 NA19030.hp1 |
a0001a0002a0005 | a0001c0002a0002c0009a0005c0008 | a0001c0002t0002a0002c0009t0001a0005c0008t0001 | a0001c0002t0002g0153a0002c0009t0001g0004a0005c0008t0001g0194 | 3 | 204 | 0.0147 | -8 | c.279 others(27): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 4/16 | chr3 | TogoVar | ||||||
CFAP210_chr2_169640425_169699405 | 169650734 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02559.hp2 HG02717.hp1 others(7): Show |
a0001a0006a0008 | a0001c0001a0006c0006a0008c0010 | a0001c0001t0001a0006c0006t0002a0008c0010t0001 | a0001c0001t0001g0014a0001c0001t0001g0297a0001c0001t0001g0298others(6): Show | 10 | 390 | 0.0256 | -8 | c.960 others(23): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 6/8 | chr2 | TogoVar | ||||||
CFAP210_chr2_169640425_169699405 | 169692444 | GCACACAC others(1): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG02896.hp2 HG03139.hp2 others(2): Show |
a0004a0006 | a0004c0004a0006c0006 | a0004c0004t0002a0006c0006t0002 | a0004c0004t0002g0048a0006c0006t0002g0010a0006c0006t0002g0094others(1): Show | 5 | 390 | 0.0128 | -8 | c.67+ others(23): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 1/8 | chr2 | TogoVar | ||||||
CFAP251_chr12_121913592_122008919 | 121928630 | ATATATAC others(1): Show |
A | intron_variant | MODIFIER | HG01081.hp2 HG02080.hp2 HG02451.hp2 others(5): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0179a0001c0001t0001g0180a0001c0001t0001g0181others(5): Show | 8 | 354 | 0.0226 | -8 | c.748 others(25): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP251_chr12_121913592_122008919 | 121928662 | ATATATAC others(1): Show |
A | intron_variant | MODIFIER | HG01081.hp2 HG02080.hp2 NA18747.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179a0001c0001t0001g0180a0001c0001t0001g0181others(5): Show | 8 | 354 | 0.0226 | -8 | c.748 others(25): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP251_chr12_121913592_122008919 | 121998432 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG02293.hp1 HG02615.hp2 others(9): Show |
a0002a0003a0004others(1): Show | a0002c0004a0002c0008a0003c0009others(3): Show | a0002c0004t0001a0002c0008t0001a0003c0009t0001others(3): Show | a0002c0004t0001g0004a0002c0004t0001g0055a0002c0008t0001g0002others(8): Show | 12 | 354 | 0.0339 | -8 | c.300 others(27): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP276_chr1_109100951_109117747 | 109113416 | AAGAGAGA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00438.hp1 others(47): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0013others(10): Show | 50 | 404 | 0.1238 | -8 | c.-74 others(17): Show |
CFAP276 | ENSG00000179902.13 | transcript | ENST00000369948.8 | protein_coding | 670 | chr1 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80390514 | CATATATG others(1): Show |
C | intron_variant | MODIFIER | HG02895.hp1 HG03195.hp1 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0002 | a0001c0003t0001g0089a0001c0003t0002g0091 | 2 | 96 | 0.0208 | -8 | c.242 others(27): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80390870 | CATATATG others(1): Show |
C | intron_variant | MODIFIER | NA18984.hp1 NA19060.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0008a0002c0002t0001g0012 | 2 | 96 | 0.0208 | -8 | c.242 others(27): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80393435 | CCACTGAC others(1): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG00639.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(6): Show | 9 | 96 | 0.0938 | -8 | c.242 others(27): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80504462 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG02523.hp2 NA18522.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0011others(3): Show | 6 | 96 | 0.0625 | -8 | c.243 others(27): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80646984 | AGAGAGTG others(1): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02280.hp1 HG02451.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(1): Show | a0001c0001t0001g0029a0001c0001t0001g0031a0001c0001t0001g0032others(5): Show | 8 | 96 | 0.0833 | -8 | c.333 others(27): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80669145 | CTTTCTTT others(1): Show |
C | intron_variant | MODIFIER | HG01168.hp2 HG02615.hp1 HG02615.hp2 others(5): Show |
a0001a0002a0003 | a0001c0004a0002c0005a0002c0006others(2): Show | a0001c0004t0001a0002c0005t0001a0002c0006t0001others(2): Show | a0001c0004t0001g0061a0001c0004t0001g0066a0002c0005t0001g0058others(5): Show | 8 | 96 | 0.0833 | -8 | c.333 others(27): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80730320 | GCAGTGTA others(1): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp2 others(47): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(6): Show | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0009others(47): Show | 50 | 96 | 0.5208 | -8 | c.334 others(29): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80732048 | TACACAGA others(1): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00597.hp2 others(23): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(3): Show | a0001c0001t0001g0010a0001c0001t0001g0019a0001c0001t0001g0023others(23): Show | 26 | 96 | 0.2708 | -8 | c.334 others(29): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80916252 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG02922.hp1 NA18957.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0009a0002c0002 | a0001c0001t0001a0001c0009t0002a0002c0002t0001 | a0001c0001t0001g0042a0001c0001t0001g0052a0001c0001t0001g0053others(2): Show | 5 | 96 | 0.0521 | -8 | c.477 others(27): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80924532 | GTGTGTGT others(1): Show |
G | intron_variant | MODIFIER | HG02280.hp2 HG02647.hp2 HG02886.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0005t0001others(1): Show | a0001c0001t0001g0048a0002c0002t0001g0020a0002c0002t0001g0026others(6): Show | 9 | 96 | 0.0938 | -8 | c.477 others(27): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80931145 | AAGTGAGT others(1): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00642.hp1 others(40): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(6): Show | a0001c0001t0001g0009a0001c0001t0001g0019a0001c0001t0001g0023others(40): Show | 43 | 96 | 0.4479 | -8 | c.477 others(27): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80937312 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG02280.hp2 HG02647.hp2 HG02886.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0005t0001others(1): Show | a0001c0001t0001g0048a0002c0002t0001g0020a0002c0002t0001g0026others(7): Show | 10 | 96 | 0.1042 | -8 | c.477 others(25): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80944064 | CAATAAAT others(1): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG02451.hp1 HG02486.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(3): Show | a0001c0001t0001g0049a0001c0001t0002g0051a0001c0003t0001g0038others(6): Show | 9 | 96 | 0.0938 | -8 | c.477 others(23): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP300_chr11_102042437_102089554 | 102053551 | AAAACAAA others(1): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG03130.hp1 HG03688.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0055a0001c0001t0002g0097a0001c0001t0002g0104 | 3 | 346 | 0.0087 | -8 | c.193 others(25): Show |
CFAP300 | ENSG00000137691.13 | transcript | ENST00000434758.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CFAP300_chr11_102042437_102089554 | 102059281 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG01891.hp1 HG01934.hp1 others(12): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0003a0001c0001t0006a0002c0004t0003 | a0001c0001t0003g0033a0001c0001t0003g0050a0001c0001t0003g0051others(11): Show | 15 | 346 | 0.0434 | -8 | c.268 others(23): Show |
CFAP300 | ENSG00000137691.13 | transcript | ENST00000434758.7 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CFAP418_chr8_95239913_95274201 | 95244596 | TACACACA others(1): Show |
T | downstream_gene_variant | MODIFIER | HG00639.hp2 HG00733.hp1 HG00741.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0024 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0017others(5): Show | 19 | 388 | 0.0490 | -8 | c.*30 others(19): Show |
CFAP418 | ENSG00000156172.6 | transcript | ENST00000286688.6 | protein_coding | 316 | chr8 | TogoVar | ||||||
CFAP43_chr10_104124888_104237364 | 104215136 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG01884.hp2 NA18951.hp2 NA18963.hp2 others(8): Show |
a0001a0011 | a0001c0001a0011c0022 | a0001c0001t0001a0011c0022t0001 | a0001c0001t0001g0001a0001c0001t0001g0032a0001c0001t0001g0033others(7): Show | 11 | 306 | 0.0360 | -8 | c.417 others(23): Show |
CFAP43 | ENSG00000197748.13 | transcript | ENST00000357060.8 | protein_coding | 3/37 | chr10 | TogoVar | ||||||
CFAP43_chr10_104124888_104237364 | 104220949 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG02109.hp2 NA18942.hp1 NA18949.hp1 others(3): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0001a0002c0002t0001a0004c0005t0001 | a0001c0001t0001g0249a0001c0001t0001g0287a0002c0002t0001g0075others(3): Show | 6 | 306 | 0.0196 | -8 | c.416 others(25): Show |
CFAP43 | ENSG00000197748.13 | transcript | ENST00000357060.8 | protein_coding | 3/37 | chr10 | TogoVar | ||||||
CFAP44_chr3_113281930_113446493 | 113328695 | TTAAAAAA others(1): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00544.hp1 others(74): Show |
a0002a0003a0004others(6): Show | a0002c0002a0003c0003a0003c0007others(7): Show | a0002c0002t0004a0002c0002t0005a0002c0002t0020others(23): Show | a0002c0002t0004g0121a0002c0002t0005g0059a0002c0002t0005g0096others(71): Show | 77 | 348 | 0.2213 | -8 | c.411 others(25): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 26/34 | chr3 | TogoVar | ||||||
CFAP44_chr3_113281930_113446493 | 113353453 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG02572.hp2 HG02622.hp2 HG02809.hp2 others(2): Show |
a0002a0006a0009 | a0002c0002a0006c0006a0009c0011 | a0002c0002t0002a0002c0002t0050a0006c0006t0004others(1): Show | a0002c0002t0002g0035a0002c0002t0050g0036a0006c0006t0004g0044others(2): Show | 5 | 348 | 0.0144 | -8 | c.306 others(27): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 22/34 | chr3 | TogoVar | ||||||
CFAP44_chr3_113281930_113446493 | 113374363 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG01106.hp2 HG01891.hp2 others(21): Show |
a0005a0009a0011others(3): Show | a0005c0005a0009c0011a0011c0017others(4): Show | a0005c0005t0010a0005c0005t0012a0005c0005t0015others(12): Show | a0005c0005t0010g0007a0005c0005t0010g0053a0005c0005t0012g0012others(21): Show | 24 | 348 | 0.0690 | -8 | c.229 others(25): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 17/34 | chr3 | TogoVar | ||||||
CFAP44_chr3_113281930_113446493 | 113412287 | GTTTTCAT others(1): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp1 HG00597.hp2 others(22): Show |
a0004a0027 | a0004c0004a0004c0043a0027c0044 | a0004c0004t0004a0004c0004t0006a0004c0004t0007others(5): Show | a0004c0004t0004g0305a0004c0004t0006g0288a0004c0004t0006g0289others(22): Show | 25 | 348 | 0.0718 | -8 | c.674 others(25): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 6/34 | chr3 | TogoVar |