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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CEP126_chr11_101910010_102006062 | 101938159 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG01993.hp1 HG02015.hp2 HG02132.hp1 others(7): Show |
a0001a0007 | a0001c0001a0007c0007 | a0001c0001t0002a0001c0001t0004a0001c0001t0025others(1): Show | a0001c0001t0002g0054a0001c0001t0002g0207a0001c0001t0002g0221others(7): Show | 10 | 336 | 0.0298 | 26 | c.249 others(43): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CEP126_chr11_101910010_102006062 | 102003184 | G | GTATATAT others(19): Show |
downstream_gene_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0310 | 1 | 336 | 0.0030 | 26 | c.*55 others(37): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2123 | chr11 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 102003186 | G | GTATATAT others(19): Show |
downstream_gene_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 336 | 0.0030 | 26 | c.*55 others(37): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2125 | chr11 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80561896 | C | CTATATAT others(19): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 164 | 0.0061 | 26 | c.285 others(45): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 20/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80729058 | G | GGTGTGTG others(19): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0002 | a0002c0006 | a0002c0006t0003 | a0002c0006t0003g0097 | 1 | 164 | 0.0061 | 26 | c.280 others(47): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP162_chr6_84119250_84232643 | 84139933 | G | GCTGGTGT others(19): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02451.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001a0001c0001t0002g0002a0001c0001t0002g0028others(7): Show | 12 | 214 | 0.0561 | 26 | c.387 others(45): Show |
CEP162 | ENSG00000135315.12 | transcript | ENST00000403245.8 | protein_coding | 25/26 | chr6 | TogoVar | ||||||
CEP162_chr6_84119250_84232643 | 84139933 | G | GCTGGTGT others(19): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01074.hp2 HG01109.hp1 others(71): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0005others(14): Show | a0001c0001t0002a0001c0001t0003a0001c0004t0002others(20): Show | a0001c0001t0002g0110a0001c0001t0002g0140a0001c0001t0002g0197others(70): Show | 74 | 214 | 0.3458 | 26 | c.387 others(45): Show |
CEP162 | ENSG00000135315.12 | transcript | ENST00000403245.8 | protein_coding | 25/26 | chr6 | TogoVar | ||||||
CEP170B_chr14_104860268_104901747 | 104860489 | A | ACCACCCT others(19): Show |
upstream_gene_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 328 | 0.0031 | 26 | c.-50 others(37): Show |
CEP170B | ENSG00000099814.17 | transcript | ENST00000414716.8 | protein_coding | 4778 | chr14 | TogoVar | ||||||
CEP170B_chr14_104860268_104901747 | 104860510 | G | GCATCTCC others(19): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp2 others(133): Show |
a0001a0002a0003others(11): Show | a0001c0002a0001c0003a0001c0006others(43): Show | a0001c0002t0002a0001c0003t0002a0001c0003t0020others(48): Show | a0001c0002t0002g0002a0001c0002t0002g0005a0001c0002t0002g0027others(115): Show | 136 | 328 | 0.4146 | 26 | c.-50 others(37): Show |
CEP170B | ENSG00000099814.17 | transcript | ENST00000414716.8 | protein_coding | 4757 | chr14 | TogoVar | ||||||
CEP170B_chr14_104860268_104901747 | 104861756 | T | TGTCCATC others(19): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 HG02622.hp1 HG03130.hp2 others(3): Show |
a0001 | a0001c0001a0001c0007a0001c0053 | a0001c0001t0001a0001c0001t0022a0001c0007t0001others(1): Show | a0001c0001t0001g0084a0001c0001t0001g0085a0001c0001t0022g0090others(2): Show | 6 | 328 | 0.0183 | 26 | c.-37 others(37): Show |
CEP170B | ENSG00000099814.17 | transcript | ENST00000414716.8 | protein_coding | 3511 | chr14 | TogoVar | ||||||
CEP170B_chr14_104860268_104901747 | 104862309 | G | GTCCACTG others(19): Show |
upstream_gene_variant | MODIFIER | HG02080.hp1 HG02080.hp2 |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0011t0001 | a0001c0001t0001g0118a0001c0011t0001g0124 | 2 | 328 | 0.0061 | 26 | c.-32 others(37): Show |
CEP170B | ENSG00000099814.17 | transcript | ENST00000414716.8 | protein_coding | 2958 | chr14 | TogoVar | ||||||
CEP170B_chr14_104860268_104901747 | 104872435 | G | GTGACATG others(19): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0002 | a0002c0060 | a0002c0060t0002 | a0002c0060t0002g0186 | 1 | 328 | 0.0031 | 26 | c.106 others(43): Show |
CEP170B | ENSG00000099814.17 | transcript | ENST00000414716.8 | protein_coding | 2/18 | chr14 | TogoVar | ||||||
CEP170B_chr14_104860268_104901747 | 104872435 | G | GTGCCATG others(19): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp2 others(63): Show |
a0001a0002a0006others(4): Show | a0001c0002a0001c0003a0001c0022others(13): Show | a0001c0002t0002a0001c0003t0002a0001c0003t0020others(16): Show | a0001c0002t0002g0002a0001c0002t0002g0180a0001c0002t0002g0205others(50): Show | 66 | 328 | 0.2012 | 26 | c.106 others(43): Show |
CEP170B | ENSG00000099814.17 | transcript | ENST00000414716.8 | protein_coding | 2/18 | chr14 | TogoVar | ||||||
CEP170_chr1_243119428_243260281 | 243159763 | T | TTGTGTGT others(19): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00438.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003 | a0001c0001t0001g0002a0001c0001t0001g0016a0001c0001t0001g0020others(9): Show | 13 | 303 | 0.0429 | 26 | c.367 others(45): Show |
CEP170 | ENSG00000143702.16 | transcript | ENST00000366542.6 | protein_coding | 13/19 | chr1 | TogoVar | ||||||
CEP295NL_chr17_78885579_78908201 | 78904089 | T | TTGTGTGT others(19): Show |
upstream_gene_variant | MODIFIER | HG03098.hp1 HG03486.hp1 |
a0001a0010 | a0001c0001a0010c0011 | a0001c0001t0002a0010c0011t0002 | a0001c0001t0002g0118a0010c0011t0002g0119 | 2 | 430 | 0.0047 | 26 | c.-10 others(37): Show |
CEP295NL | ENSG00000178404.11 | transcript | ENST00000322630.3 | protein_coding | 889 | chr17 | TogoVar | ||||||
CEP295NL_chr17_78885579_78908201 | 78904091 | A | ATGTGTGT others(19): Show |
upstream_gene_variant | MODIFIER | HG01261.hp2 HG02145.hp1 HG02258.hp1 others(14): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0006c0005others(1): Show | a0001c0001t0002a0001c0001t0005a0002c0002t0002others(2): Show | a0001c0001t0002g0017a0001c0001t0002g0051a0001c0001t0002g0052others(13): Show | 17 | 430 | 0.0395 | 26 | c.-10 others(37): Show |
CEP295NL | ENSG00000178404.11 | transcript | ENST00000322630.3 | protein_coding | 891 | chr17 | TogoVar | ||||||
CEP350_chr1_179949810_180119875 | 180030317 | A | ATATGTAT others(19): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(27): Show |
a0002a0007a0008others(3): Show | a0002c0002a0002c0020a0007c0008others(5): Show | a0002c0002t0004a0002c0002t0015a0002c0002t0020others(8): Show | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(27): Show | 30 | 248 | 0.1210 | 26 | c.355 others(44): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP43_chr6_166994397_167057718 | 167042814 | T | TTGTGTGT others(19): Show |
3_prime_UTR_variant | MODIFIER | HG00741.hp1 HG01074.hp2 HG01255.hp1 others(12): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0016a0001c0001t0048a0001c0001t0049others(7): Show | a0001c0001t0016g0003a0001c0001t0016g0080a0001c0001t0016g0082others(11): Show | 15 | 376 | 0.0399 | 26 | c.*28 others(37): Show |
CEP43 | ENSG00000213066.14 | transcript | ENST00000366847.9 | protein_coding | 13/13 | 2862 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||
CEP44_chr4_174278911_174325328 | 174320698 | G | GTGTGTGT others(19): Show |
downstream_gene_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 388 | 0.0026 | 26 | c.*33 others(37): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 371 | chr4 | TogoVar | ||||||
CEP44_chr4_174278911_174325328 | 174320704 | A | ATGTGTGT others(19): Show |
downstream_gene_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 388 | 0.0026 | 26 | c.*33 others(37): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 377 | chr4 | TogoVar | ||||||
CEP70_chr3_138489344_138599260 | 138499783 | T | TACACACA others(19): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0004 | a0004c0006 | a0004c0006t0005 | a0004c0006t0005g0028 | 1 | 318 | 0.0031 | 26 | c.165 others(43): Show |
CEP70 | ENSG00000114107.9 | transcript | ENST00000264982.8 | protein_coding | 16/17 | chr3 | TogoVar | ||||||
CEP72_chr5_607340_658553 | 649491 | G | GACTGTGA others(19): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 91 | 0.0110 | 26 | c.177 others(45): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | TogoVar | ||||||
CEP72_chr5_607340_658553 | 649965 | G | GACTGTGA others(19): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0085 | 1 | 91 | 0.0110 | 26 | c.177 others(45): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | TogoVar | ||||||
CEP72_chr5_607340_658553 | 649992 | G | GGACTGTG others(19): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02015.hp1 NA18948.hp1 others(1): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0004a0001c0001t0001g0016a0001c0006t0001g0012others(1): Show | 4 | 91 | 0.0440 | 26 | c.177 others(45): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CEP72_chr5_607340_658553 | 649992 | G | GGACTGTG others(19): Show |
intron_variant | MODIFIER | HG01243.hp1 HG04115.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0081a0002c0002t0001g0082 | 2 | 91 | 0.0220 | 26 | c.177 others(45): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CEP72_chr5_607340_658553 | 650243 | G | GACTGTGA others(19): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01069.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0078a0002c0002t0001g0085 | 2 | 91 | 0.0220 | 26 | c.177 others(45): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | TogoVar | ||||||
CEP72_chr5_607340_658553 | 650908 | T | TGTGACTG others(19): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 91 | 0.0110 | 26 | c.177 others(45): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CEP83_chr12_94302698_94464867 | 94376690 | T | TATACACA others(19): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 364 | 0.0028 | 26 | c.802 others(41): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 7/16 | chr12 | TogoVar | ||||||
CEP85_chr1_26229200_26283808 | 26248722 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0132 | 1 | 342 | 0.0029 | 26 | c.208 others(43): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP85_chr1_26229200_26283808 | 26282328 | A | AGGGACTG others(19): Show |
downstream_gene_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0038 | 1 | 342 | 0.0029 | 26 | c.*50 others(37): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 3521 | chr1 | TogoVar | ||||||
CEP97_chr3_101719614_101775562 | 101723527 | A | AATATATA others(19): Show |
upstream_gene_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0207 | 1 | 352 | 0.0028 | 26 | c.-11 others(37): Show |
CEP97 | ENSG00000182504.12 | transcript | ENST00000341893.8 | protein_coding | 1086 | chr3 | TogoVar | ||||||
CERCAM_chr9_128415857_128442347 | 128437425 | A | ATATGTAT others(19): Show |
downstream_gene_variant | MODIFIER | HG02622.hp2 HG02895.hp1 HG02897.hp1 |
a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0046a0002c0007t0001g0204 | 3 | 400 | 0.0075 | 26 | c.*57 others(35): Show |
CERCAM | ENSG00000167123.20 | transcript | ENST00000372838.9 | protein_coding | 79 | chr9 | TogoVar | ||||||
CERKL_chr2_181531672_181662105 | 181609533 | T | TAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG01516.hp2 HG01517.hp2 NA18939.hp2 others(4): Show |
a0001a0002a0003 | a0001c0002a0002c0003a0002c0004others(1): Show | a0001c0002t0003a0002c0003t0011a0002c0003t0023others(3): Show | a0001c0002t0003g0140a0002c0003t0011g0023a0002c0003t0011g0024others(4): Show | 7 | 298 | 0.0235 | 26 | c.239 others(43): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
CERS3_chr15_100395395_100533950 | 100467874 | G | GATAGATA others(19): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0024 | a0001c0001t0017g0166a0001c0001t0024g0164 | 2 | 362 | 0.0055 | 26 | c.845 others(43): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 10/11 | chr15 | TogoVar | ||||||
CERS3_chr15_100395395_100533950 | 100526478 | C | CTGTGTGT others(19): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01255.hp1 NA18942.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0030 | a0001c0001t0001g0114a0001c0001t0001g0116a0001c0001t0001g0117others(2): Show | 5 | 362 | 0.0138 | 26 | c.-92 others(43): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 1/11 | chr15 | TogoVar | ||||||
CERS4_chr19_8204370_8267421 | 8240585 | A | AGTGTGTG others(19): Show |
intron_variant | MODIFIER | HG02818.hp1 HG04115.hp1 |
a0001 | a0001c0002a0001c0008 | a0001c0002t0003a0001c0008t0004 | a0001c0002t0003g0416a0001c0008t0004g0282 | 2 | 418 | 0.0048 | 26 | c.-1- others(43): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CERS4_chr19_8204370_8267421 | 8245112 | A | AAAAAAAC others(19): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(85): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0006others(8): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(18): Show | a0001c0001t0002g0270a0001c0001t0003g0036a0001c0001t0003g0046others(85): Show | 88 | 418 | 0.2105 | 26 | c.-1- others(41): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CERS4_chr19_8204370_8267421 | 8245117 | A | AACAAAAA others(19): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01358.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0005 | a0001c0002t0001g0075a0001c0002t0001g0412a0001c0002t0005g0045others(1): Show | 4 | 418 | 0.0096 | 26 | c.-1- others(41): 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(19): Show |
downstream_gene_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0297 | 1 | 418 | 0.0024 | 26 | c.*47 others(37): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 4443 | chr19 | TogoVar | ||||||
CERS4_chr19_8204370_8267421 | 8267294 | C | CAAAAAAA others(19): Show |
downstream_gene_variant | MODIFIER | HG02723.hp2 HG03927.hp2 NA18980.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0002a0001c0001t0003a0003c0004t0004 | a0001c0001t0002g0142a0001c0001t0002g0244a0001c0001t0003g0183others(1): Show | 4 | 418 | 0.0096 | 26 | c.*51 others(37): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 4874 | chr19 | TogoVar | ||||||
CERS5_chr12_50124289_50172369 | 50156420 | C | CTATATAT others(19): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02602.hp1 HG02622.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0008a0002c0003t0003 | a0001c0001t0001g0079a0001c0001t0008g0003a0001c0001t0008g0314others(3): Show | 7 | 320 | 0.0219 | 26 | c.197 others(45): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 1/9 | chr12 | TogoVar | ||||||
CERS5_chr12_50124289_50172369 | 50156437 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01433.hp2 |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0047a0002c0003t0003g0059 | 2 | 320 | 0.0063 | 26 | c.197 others(45): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 1/9 | chr12 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168486518 | G | GTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0149 | 1 | 176 | 0.0057 | 26 | c.170 others(45): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 1/9 | chr2 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168559733 | T | TTATATAT others(19): Show |
intron_variant | MODIFIER | NA19056.hp1 NA19076.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0140a0001c0001t0002g0099 | 2 | 176 | 0.0114 | 26 | c.277 others(43): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 2/9 | chr2 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168559733 | T | TTTTTTAT others(19): Show |
intron_variant | MODIFIER | NA18971.hp1 NA18983.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0085a0001c0001t0004g0138 | 2 | 176 | 0.0114 | 26 | c.277 others(43): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 2/9 | chr2 | TogoVar | ||||||
CERT1_chr5_75372775_75516629 | 75393602 | T | TAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG02300.hp2 HG02683.hp2 NA18957.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0007a0001c0002t0004 | a0001c0001t0002g0207a0001c0001t0002g0225a0001c0001t0002g0260others(3): Show | 6 | 336 | 0.0179 | 26 | c.118 others(45): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 11/16 | chr5 | TogoVar | ||||||
CES5A_chr16_55841154_55880373 | 55854533 | T | TTCTGTTT others(19): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00544.hp2 HG00597.hp2 others(59): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0002c0003others(16): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(23): Show | a0001c0001t0001g0338a0001c0001t0001g0340a0001c0001t0003g0035others(57): Show | 62 | 449 | 0.1381 | 26 | c.112 others(45): Show |
CES5A | ENSG00000159398.16 | transcript | ENST00000290567.14 | protein_coding | 9/12 | chr16 | TogoVar | ||||||
CETN1_chr18_575380_587114 | 576446 | G | GGAAGGAA others(19): Show |
upstream_gene_variant | MODIFIER | NA18612.hp1 NA18952.hp1 NA18964.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0000 | 5 | 422 | 0.0119 | 26 | c.-39 others(37): Show |
CETN1 | ENSG00000177143.5 | transcript | ENST00000327228.5 | protein_coding | 3933 | chr18 | TogoVar | ||||||
CFAP100_chr3_126389909_126441556 | 126401397 | T | TTTTATAT others(19): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 422 | 0.0024 | 26 | c.49+ others(41): Show |
CFAP100 | ENSG00000163885.12 | transcript | ENST00000352312.6 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CFAP20DC_chr3_58737008_59055025 | 58801050 | T | TGAGAGAG others(19): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0058a0001c0005t0001g0059 | 2 | 204 | 0.0098 | 26 | c.223 others(45): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 15/16 | chr3 | TogoVar |