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 | 75375623 | AAATAAAT others(5): Show |
A | downstream_gene_variant | MODIFIER | HG02559.hp2 HG03139.hp1 HG03195.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0082a0001c0002t0001g0083a0001c0002t0001g0084others(3): Show | 6 | 336 | 0.0179 | -12 | c.*37 others(23): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 2151 | chr5 | TogoVar | ||||||
CERT1_chr5_75372775_75516629 | 75388599 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0148 | 1 | 336 | 0.0030 | -12 | c.128 others(29): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 12/16 | chr5 | TogoVar | ||||||
CERT1_chr5_75372775_75516629 | 75422623 | AAATCAAA others(5): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG02004.hp2 HG02293.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004 | a0001c0002t0001g0031a0001c0002t0001g0049a0001c0002t0001g0050others(3): Show | 6 | 336 | 0.0179 | -12 | c.595 others(29): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 5/16 | chr5 | TogoVar | ||||||
CERT1_chr5_75372775_75516629 | 75440565 | GAACATGC others(5): Show |
G | intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0079 | 1 | 336 | 0.0030 | -12 | c.349 others(31): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 3/16 | chr5 | TogoVar | ||||||
CES1_chr16_55797851_55838096 | 55798416 | GGAAGGAA others(5): Show |
G | downstream_gene_variant | MODIFIER | HG01515.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0002 | 1 | 87 | 0.0115 | -12 | c.*46 others(23): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 4434 | chr16 | TogoVar | ||||||
CES1_chr16_55797851_55838096 | 55798424 | GGAAAGAA others(5): Show |
G | downstream_gene_variant | MODIFIER | HG00438.hp1 HG01256.hp1 HG01361.hp1 others(7): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0009 | a0001c0001t0001a0002c0002t0002a0007c0009t0001 | a0001c0001t0001g0003a0001c0001t0001g0018a0001c0001t0001g0025others(7): Show | 10 | 87 | 0.1149 | -12 | c.*46 others(23): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 4426 | chr16 | TogoVar | ||||||
CES1_chr16_55797851_55838096 | 55817744 | CTCTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG01515.hp2 HG03195.hp1 HG03209.hp2 |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0002a0004c0004t0001g0040 | 3 | 87 | 0.0345 | -12 | c.907 others(27): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 7/13 | chr16 | TogoVar | ||||||
CES1_chr16_55797851_55838096 | 55821063 | GGAGAGAG others(5): Show |
G | intron_variant | MODIFIER | NA18943.hp1 NA19082.hp2 NA19085.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0030a0001c0001t0001g0032a0002c0002t0002g0065 | 3 | 87 | 0.0345 | -12 | c.693 others(27): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 5/13 | chr16 | TogoVar | ||||||
CES1_chr16_55797851_55838096 | 55825175 | AGAATGAA others(5): Show |
A | intron_variant | MODIFIER | HG01891.hp1 | a0008 | a0008c0008 | a0008c0008t0001 | a0008c0008t0001g0039 | 1 | 87 | 0.0115 | -12 | c.405 others(27): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 3/13 | chr16 | TogoVar | ||||||
CES4A_chr16_66983589_67015417 | 66997948 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG01943.hp2 HG02970.hp1 NA19030.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0001a0002c0002t0001a0002c0005t0003 | a0001c0001t0001g0102a0001c0001t0001g0103a0002c0002t0001g0051others(1): Show | 4 | 306 | 0.0131 | -12 | c.260 others(29): Show |
CES4A | ENSG00000172824.17 | transcript | ENST00000648724.3 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CES4A_chr16_66983589_67015417 | 67000505 | ACGCACGC others(5): Show |
A | intron_variant | MODIFIER | HG02602.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0056 | 1 | 306 | 0.0033 | -12 | c.261 others(27): Show |
CES4A | ENSG00000172824.17 | transcript | ENST00000648724.3 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CES5A_chr16_55841154_55880373 | 55842080 | TAGACAGA others(5): Show |
T | downstream_gene_variant | MODIFIER | HG02280.hp2 HG02976.hp2 |
a0022a0030 | a0022c0067a0030c0046 | a0022c0067t0003a0030c0046t0001 | a0022c0067t0003g0100a0030c0046t0001g0235 | 2 | 449 | 0.0045 | -12 | c.*43 others(23): Show |
CES5A | ENSG00000159398.16 | transcript | ENST00000290567.14 | protein_coding | 4073 | chr16 | TogoVar | ||||||
CES5A_chr16_55841154_55880373 | 55878924 | TCACTGCA others(5): Show |
T | upstream_gene_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0023 | 1 | 449 | 0.0022 | -12 | c.-37 others(23): Show |
CES5A | ENSG00000159398.16 | transcript | ENST00000290567.14 | protein_coding | 3552 | chr16 | TogoVar | ||||||
CETN1_chr18_575380_587114 | 576442 | GAGAGAGG others(5): Show |
G | upstream_gene_variant | MODIFIER | HG02145.hp2 HG02965.hp2 HG03139.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0008a0001c0001t0011 | a0001c0001t0005g0000a0001c0001t0008g0000a0001c0001t0011g0000 | 4 | 422 | 0.0095 | -12 | c.-39 others(23): Show |
CETN1 | ENSG00000177143.5 | transcript | ENST00000327228.5 | protein_coding | 3937 | chr18 | TogoVar | ||||||
CETP_chr16_56956950_56988845 | 56959938 | GGAAAGAA others(5): Show |
G | upstream_gene_variant | MODIFIER | HG00558.hp2 HG02523.hp2 HG02683.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0006 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0064others(9): Show | 14 | 462 | 0.0303 | -12 | c.-20 others(23): Show |
CETP | ENSG00000087237.12 | transcript | ENST00000200676.8 | protein_coding | 2011 | chr16 | TogoVar | ||||||
CETP_chr16_56956950_56988845 | 56963990 | TTTTATTT others(5): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02165.hp1 HG02630.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0019 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0100a0001c0001t0001g0101a0001c0001t0001g0244others(7): Show | 10 | 462 | 0.0217 | -12 | c.233 others(27): Show |
CETP | ENSG00000087237.12 | transcript | ENST00000200676.8 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CETP_chr16_56956950_56988845 | 56981423 | GCTGCCAG others(5): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(353): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0010a0001c0016others(17): Show | a0001c0001t0001a0001c0010t0001a0001c0016t0001others(19): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(227): Show | 356 | 462 | 0.7706 | -12 | c.121 others(29): Show |
CETP | ENSG00000087237.12 | transcript | ENST00000200676.8 | protein_coding | 12/15 | chr16 | TogoVar | ||||||
CFAP100_chr3_126389909_126441556 | 126401397 | TTATATAT others(5): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG01070.hp1 HG01123.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0028a0001c0001t0001g0051a0001c0001t0001g0197others(7): Show | 12 | 422 | 0.0284 | -12 | c.49+ others(27): Show |
CFAP100 | ENSG00000163885.12 | transcript | ENST00000352312.6 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CFAP107_chr1_12741200_12768699 | 12757333 | TTCTTTTC others(5): Show |
T | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0109 | 1 | 336 | 0.0030 | -12 | c.225 others(29): Show |
CFAP107 | ENSG00000157330.10 | transcript | ENST00000614859.5 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFAP141_chr1_154194085_154211333 | 154203172 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00735.hp1 HG01109.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0025a0001c0001t0001g0060others(4): Show | 14 | 372 | 0.0376 | -12 | c.74+ others(27): Show |
CFAP141 | ENSG00000163263.7 | transcript | ENST00000368525.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
CFAP141_chr1_154194085_154211333 | 154211321 | ATTCTTTT others(5): Show |
A | upstream_gene_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 372 | 0.0027 | -12 | c.-50 others(23): Show |
CFAP141 | ENSG00000163263.7 | transcript | ENST00000368525.4 | protein_coding | 4989 | chr1 | TogoVar | ||||||
CFAP157_chr9_127701988_127721002 | 127713496 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG01256.hp1 |
a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0027 | 2 | 354 | 0.0057 | -12 | c.149 others(29): Show |
CFAP157 | ENSG00000160401.15 | transcript | ENST00000373295.7 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP161_chr15_81129270_81154179 | 81133176 | CATATATA others(5): Show |
C | upstream_gene_variant | MODIFIER | NA19000.hp2 NA19070.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126a0001c0001t0001g0130 | 2 | 448 | 0.0045 | -12 | c.-11 others(23): Show |
CFAP161 | ENSG00000156206.14 | transcript | ENST00000286732.5 | protein_coding | 1093 | chr15 | TogoVar | ||||||
CFAP161_chr15_81129270_81154179 | 81133213 | ATATATAT others(5): Show |
A | upstream_gene_variant | MODIFIER | HG01070.hp1 HG02071.hp2 NA18612.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0037a0001c0001t0001g0102a0001c0001t0001g0112others(1): Show | 4 | 448 | 0.0089 | -12 | c.-11 others(23): Show |
CFAP161 | ENSG00000156206.14 | transcript | ENST00000286732.5 | protein_coding | 1056 | chr15 | TogoVar | ||||||
CFAP161_chr15_81129270_81154179 | 81133219 | ATATATGT others(5): Show |
A | upstream_gene_variant | MODIFIER | HG03654.hp2 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046a0001c0001t0001g0151 | 2 | 448 | 0.0045 | -12 | c.-11 others(23): Show |
CFAP161 | ENSG00000156206.14 | transcript | ENST00000286732.5 | protein_coding | 1050 | chr15 | TogoVar | ||||||
CFAP161_chr15_81129270_81154179 | 81146831 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | HG00609.hp2 HG02258.hp1 HG02630.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0018a0001c0001t0001g0135a0001c0001t0001g0141others(2): Show | 7 | 448 | 0.0156 | -12 | c.637 others(27): Show |
CFAP161 | ENSG00000156206.14 | transcript | ENST00000286732.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CFAP206_chr6_87402972_87469465 | 87422485 | CTCACGCC others(5): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02886.hp1 HG03041.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0007a0001c0001t0001g0329a0001c0001t0002g0335 | 5 | 376 | 0.0133 | -12 | c.841 others(29): Show |
CFAP206 | ENSG00000272514.6 | transcript | ENST00000369562.9 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CFAP206_chr6_87402972_87469465 | 87457149 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | NA18947.hp2 NA19010.hp1 NA19064.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023a0001c0001t0001g0312 | 3 | 376 | 0.0080 | -12 | 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 | 58799733 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02965.hp1 HG03130.hp2 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0160a0003c0004t0001g0161a0003c0004t0001g0162 | 3 | 204 | 0.0147 | -12 | c.223 others(31): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 15/16 | chr3 | TogoVar | ||||||
CFAP20DC_chr3_58737008_59055025 | 58856303 | CACACACA others(5): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02630.hp2 HG03041.hp1 others(1): Show |
a0002a0005 | a0002c0003a0005c0008 | a0002c0003t0001a0005c0008t0001 | a0002c0003t0001g0182a0002c0003t0001g0183a0002c0003t0001g0184others(1): Show | 4 | 204 | 0.0196 | -12 | c.159 others(31): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 12/16 | chr3 | TogoVar | ||||||
CFAP20DC_chr3_58737008_59055025 | 58870053 | GTGTCTGT others(5): Show |
G | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0012 | a0001c0012t0002 | a0001c0012t0002g0157 | 1 | 204 | 0.0049 | -12 | c.852 others(27): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 8/16 | chr3 | TogoVar | ||||||
CFAP20DC_chr3_58737008_59055025 | 58891422 | GGGGAGAG others(5): Show |
G | intron_variant | MODIFIER | HG02040.hp2 NA18941.hp2 NA18977.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0071a0001c0001t0001g0137a0001c0002t0002g0144others(2): Show | 5 | 204 | 0.0245 | -12 | c.551 others(29): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 6/16 | chr3 | TogoVar | ||||||
CFAP20DC_chr3_58737008_59055025 | 58963190 | TTGTGTGT others(5): Show |
T | intron_variant | MODIFIER | HG01106.hp1 HG01243.hp2 HG01891.hp1 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0003c0007others(1): Show | a0001c0001t0001a0002c0003t0001a0003c0007t0001others(2): Show | a0001c0001t0001g0126a0002c0003t0001g0166a0002c0003t0001g0167others(4): Show | 7 | 204 | 0.0343 | -12 | c.279 others(31): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 4/16 | chr3 | TogoVar | ||||||
CFAP20_chr16_58108592_58134381 | 58110771 | GCTCAGAT others(5): Show |
G | downstream_gene_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 400 | 0.0025 | -12 | c.*32 others(23): Show |
CFAP20 | ENSG00000070761.8 | transcript | ENST00000262498.8 | protein_coding | 2820 | chr16 | TogoVar | ||||||
CFAP20_chr16_58108592_58134381 | 58123595 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01123.hp2 HG01884.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028a0001c0001t0001g0044a0001c0001t0001g0058others(9): Show | 16 | 400 | 0.0400 | -12 | c.84+ others(27): Show |
CFAP20 | ENSG00000070761.8 | transcript | ENST00000262498.8 | protein_coding | 1/5 | chr16 | TogoVar | ||||||
CFAP20_chr16_58108592_58134381 | 58124144 | AAGCAGGT others(5): Show |
A | intron_variant | MODIFIER | NA18964.hp1 NA18968.hp2 NA18982.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019a0001c0001t0001g0118 | 5 | 400 | 0.0125 | -12 | c.84+ others(27): Show |
CFAP20 | ENSG00000070761.8 | transcript | ENST00000262498.8 | protein_coding | 1/5 | chr16 | TogoVar | ||||||
CFAP210_chr2_169640425_169699405 | 169653027 | AAAATATA others(5): Show |
A | intron_variant | MODIFIER | HG02630.hp1 NA19003.hp1 |
a0001a0003 | a0001c0008a0003c0003 | a0001c0008t0001a0003c0003t0002 | a0001c0008t0001g0133a0003c0003t0002g0034 | 2 | 390 | 0.0051 | -12 | c.959 others(29): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 6/8 | chr2 | TogoVar | ||||||
CFAP210_chr2_169640425_169699405 | 169653029 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG01256.hp1 HG01258.hp1 others(7): Show |
a0001a0003a0005 | a0001c0001a0003c0003a0005c0005 | a0001c0001t0001a0003c0003t0002a0005c0005t0002 | a0001c0001t0001g0138a0003c0003t0002g0007a0003c0003t0002g0043others(5): Show | 10 | 390 | 0.0256 | -12 | c.959 others(29): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 6/8 | chr2 | TogoVar | ||||||
CFAP210_chr2_169640425_169699405 | 169653056 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG03017.hp2 NA18981.hp2 NA19066.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0075a0002c0002t0002g0088a0002c0002t0002g0089others(1): Show | 4 | 390 | 0.0103 | -12 | c.959 others(29): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 6/8 | chr2 | TogoVar | ||||||
CFAP221_chr2_119539449_119661661 | 119640138 | CTGAAATA others(5): Show |
C | intron_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0187 | 1 | 226 | 0.0044 | -12 | c.222 others(29): Show |
CFAP221 | ENSG00000163075.13 | transcript | ENST00000413369.8 | protein_coding | 21/23 | chr2 | TogoVar | ||||||
CFAP251_chr12_121913592_122008919 | 121928625 | TGTATATA others(5): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02145.hp1 others(9): Show |
a0006 | a0006c0006a0006c0011 | a0006c0006t0001a0006c0011t0001 | a0006c0006t0001g0253a0006c0006t0001g0254a0006c0006t0001g0255others(9): Show | 12 | 354 | 0.0339 | -12 | c.748 others(29): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP251_chr12_121913592_122008919 | 121952240 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(115): Show |
a0001a0003a0008others(2): Show | a0001c0001a0003c0003a0008c0010others(2): Show | a0001c0001t0001a0003c0003t0001a0008c0010t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0111a0001c0001t0001g0112others(114): Show | 118 | 354 | 0.3333 | -12 | c.132 others(29): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP251_chr12_121913592_122008919 | 121954636 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG01943.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111a0001c0001t0001g0113 | 2 | 354 | 0.0057 | -12 | c.153 others(29): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP251_chr12_121913592_122008919 | 121978393 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG04228.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0346 | 1 | 354 | 0.0028 | -12 | c.300 others(31): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP251_chr12_121913592_122008919 | 121992952 | TCTCCCTC others(5): Show |
T | intron_variant | MODIFIER | HG04184.hp2 HG04199.hp1 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0304a0002c0004t0001g0317 | 2 | 354 | 0.0057 | -12 | c.300 others(31): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP251_chr12_121913592_122008919 | 121998432 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | HG01361.hp1 HG02135.hp2 HG02145.hp2 others(9): Show |
a0002a0003a0004others(1): Show | a0002c0004a0002c0008a0003c0003others(4): Show | a0002c0004t0001a0002c0008t0001a0003c0003t0001others(4): Show | a0002c0004t0001g0303a0002c0004t0001g0304a0002c0008t0001g0280others(9): Show | 12 | 354 | 0.0339 | -12 | c.300 others(31): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP276_chr1_109100951_109117747 | 109113404 | GAGAGAGA others(5): Show |
G | upstream_gene_variant | MODIFIER | HG01891.hp2 HG03209.hp2 HG03486.hp1 |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0021a0004c0004t0001g0075 | 3 | 404 | 0.0074 | -12 | c.-73 others(21): Show |
CFAP276 | ENSG00000179902.13 | transcript | ENST00000369948.8 | protein_coding | 658 | chr1 | TogoVar | ||||||
CFAP276_chr1_109100951_109117747 | 109113416 | AAGAGAGA others(5): Show |
A | upstream_gene_variant | MODIFIER | HG00280.hp2 HG01516.hp2 HG02109.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0014a0001c0001t0001g0034 | 5 | 404 | 0.0124 | -12 | c.-74 others(21): Show |
CFAP276 | ENSG00000179902.13 | transcript | ENST00000369948.8 | protein_coding | 670 | chr1 | TogoVar | ||||||
CFAP298_chr21_32594354_32617377 | 32614244 | CTTTTCTT others(5): Show |
C | upstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0195 | 1 | 416 | 0.0024 | -12 | c.-20 others(23): Show |
CFAP298 | ENSG00000159079.19 | transcript | ENST00000290155.8 | protein_coding | 1868 | chr21 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80447119 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG03516.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0026 | 1 | 96 | 0.0104 | -12 | c.242 others(31): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |