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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CEP41_chr7_130388771_130446016 | 130437764 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0029 | 1 | 346 | 0.0029 | 18 | c.33+ others(33): Show |
CEP41 | ENSG00000106477.20 | transcript | ENST00000223208.10 | protein_coding | 1/10 | chr7 | TogoVar | ||||||
CEP43_chr6_166994397_167057718 | 167042814 | T | TTGTGTGT others(11): Show |
3_prime_UTR_variant | MODIFIER | HG00639.hp2 HG01255.hp2 HG02027.hp1 others(26): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0014a0001c0001t0020a0001c0001t0024others(16): Show | a0001c0001t0014g0001a0001c0001t0014g0124a0001c0001t0020g0053others(22): Show | 29 | 376 | 0.0771 | 18 | c.*28 others(29): Show |
CEP43 | ENSG00000213066.14 | transcript | ENST00000366847.9 | protein_coding | 13/13 | 2862 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||
CEP57L1_chr6_109090507_109179418 | 109116120 | A | ATTTTATT others(11): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0003 | a0003c0005 | a0003c0005t0034 | a0003c0005t0034g0208 | 1 | 228 | 0.0044 | 18 | c.-4+ others(35): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEP57L1_chr6_109090507_109179418 | 109177637 | A | AATATATA others(11): Show |
downstream_gene_variant | MODIFIER | HG02735.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0013 | a0001c0001t0006g0164a0001c0001t0013g0197 | 2 | 228 | 0.0088 | 18 | c.*14 others(31): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 3220 | chr6 | TogoVar | ||||||
CEP57L1_chr6_109090507_109179418 | 109177675 | T | TATATATA others(11): Show |
downstream_gene_variant | MODIFIER | HG03688.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0028 | 1 | 228 | 0.0044 | 18 | c.*14 others(31): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 3258 | chr6 | TogoVar | ||||||
CEP63_chr3_134481057_134570031 | 134528569 | C | CGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG02818.hp1 HG03540.hp1 NA18967.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0001c0001t0025a0002c0002t0001 | a0001c0001t0005g0124a0001c0001t0005g0127a0001c0001t0025g0119others(1): Show | 4 | 322 | 0.0124 | 18 | c.223 others(35): Show |
CEP63 | ENSG00000182923.20 | transcript | ENST00000675561.1 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CEP63_chr3_134481057_134570031 | 134547614 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00741.hp1 HG02145.hp2 HG03195.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0029a0001c0003t0001others(2): Show | a0001c0001t0001g0148a0001c0001t0001g0302a0001c0001t0029g0136others(8): Show | 11 | 322 | 0.0342 | 18 | c.106 others(35): Show |
CEP63 | ENSG00000182923.20 | transcript | ENST00000675561.1 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CEP63_chr3_134481057_134570031 | 134557376 | G | GTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 322 | 0.0031 | 18 | c.146 others(35): Show |
CEP63 | ENSG00000182923.20 | transcript | ENST00000675561.1 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CEP70_chr3_138489344_138599260 | 138499783 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01123.hp2 HG01496.hp2 others(14): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0018a0002c0002t0001g0196a0002c0002t0001g0197others(13): Show | 17 | 318 | 0.0535 | 18 | c.165 others(35): Show |
CEP70 | ENSG00000114107.9 | transcript | ENST00000264982.8 | protein_coding | 16/17 | chr3 | TogoVar | ||||||
CEP76_chr18_12667625_12707723 | 12683186 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0196 | 1 | 380 | 0.0026 | 18 | c.112 others(37): Show |
CEP76 | ENSG00000101624.11 | transcript | ENST00000262127.7 | protein_coding | 8/11 | chr18 | TogoVar | ||||||
CEP83_chr12_94302698_94464867 | 94343470 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 364 | 0.0028 | 18 | c.134 others(37): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 11/16 | chr12 | TogoVar | ||||||
CEP83_chr12_94302698_94464867 | 94376690 | T | TATACACA others(11): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0030 | 1 | 364 | 0.0028 | 18 | c.802 others(33): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 7/16 | chr12 | TogoVar | ||||||
CEP83_chr12_94302698_94464867 | 94376690 | T | TATACATA others(11): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 364 | 0.0028 | 18 | c.802 others(33): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 7/16 | chr12 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118542900 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02683.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0214a0002c0002t0002g0224 | 2 | 302 | 0.0066 | 18 | c.102 others(39): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 3/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118600300 | G | GGGGGGGG others(11): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0023 | 1 | 302 | 0.0033 | 18 | c.232 others(37): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118600370 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0002 | a0002c0012 | a0002c0012t0005 | a0002c0012t0005g0263 | 1 | 302 | 0.0033 | 18 | c.232 others(37): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | ||||||
CEP85_chr1_26229200_26283808 | 26231666 | C | CTGTGTGT others(11): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 HG03710.hp2 HG03942.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0004 | a0001c0001t0001g0315a0003c0003t0004g0304a0003c0003t0004g0314others(1): Show | 4 | 342 | 0.0117 | 18 | c.-26 others(29): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 2533 | chr1 | TogoVar | ||||||
CEP85_chr1_26229200_26283808 | 26235567 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02257.hp2 HG03516.hp1 others(2): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0003a0004c0004t0008 | a0001c0001t0001g0285a0004c0004t0003g0292a0004c0004t0003g0295others(2): Show | 5 | 342 | 0.0146 | 18 | c.-23 others(35): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP85_chr1_26229200_26283808 | 26248722 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG03017.hp2 NA18983.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0125a0001c0001t0003g0135 | 2 | 342 | 0.0059 | 18 | c.208 others(35): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP85_chr1_26229200_26283808 | 26256928 | G | GGGGTGTG others(11): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0284 | 1 | 342 | 0.0029 | 18 | c.904 others(33): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP85_chr1_26229200_26283808 | 26256928 | G | GGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00733.hp2 others(21): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0003a0003c0003t0004 | a0001c0001t0003g0003a0001c0001t0003g0098a0001c0001t0003g0103others(19): Show | 24 | 342 | 0.0702 | 18 | c.904 others(33): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP85_chr1_26229200_26283808 | 26282392 | A | ACCGGGAC others(11): Show |
downstream_gene_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 1 | 342 | 0.0029 | 18 | c.*50 others(29): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 3585 | chr1 | TogoVar | ||||||
CEP89_chr19_32870925_32976958 | 32902004 | C | CTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG04184.hp2 NA18964.hp2 NA19007.hp2 others(1): Show |
a0001a0014 | a0001c0002a0001c0004a0014c0022 | a0001c0002t0001a0001c0004t0001a0014c0022t0001 | a0001c0002t0001g0022a0001c0002t0001g0029a0001c0004t0001g0203others(1): Show | 4 | 386 | 0.0104 | 18 | c.156 others(35): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 14/18 | chr19 | TogoVar | ||||||
CEP89_chr19_32870925_32976958 | 32902006 | C | CTGTGTGT others(11): Show |
intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0170 | 1 | 386 | 0.0026 | 18 | c.156 others(35): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 14/18 | chr19 | TogoVar | ||||||
CEP89_chr19_32870925_32976958 | 32944220 | T | TAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG03195.hp1 HG03209.hp1 |
a0001a0007 | a0001c0002a0007c0011 | a0001c0002t0010a0007c0011t0012 | a0001c0002t0010g0376a0007c0011t0012g0379 | 2 | 386 | 0.0052 | 18 | c.595 others(35): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
CEP97_chr3_101719614_101775562 | 101723145 | T | TAACATAT others(11): Show |
upstream_gene_variant | MODIFIER | HG02280.hp1 HG03195.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0013a0001c0001t0004g0304 | 3 | 352 | 0.0085 | 18 | c.-15 others(29): Show |
CEP97 | ENSG00000182504.12 | transcript | ENST00000341893.8 | protein_coding | 1468 | chr3 | TogoVar | ||||||
CEPT1_chr1_111135223_111190104 | 111149266 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0294 | 1 | 410 | 0.0024 | 18 | c.339 others(35): Show |
CEPT1 | ENSG00000134255.16 | transcript | ENST00000357172.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CERCAM_chr9_128415857_128442347 | 128437836 | C | CGTGTATA others(11): Show |
downstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0201 | 1 | 400 | 0.0025 | 18 | c.*98 others(27): Show |
CERCAM | ENSG00000167123.20 | transcript | ENST00000372838.9 | protein_coding | 490 | chr9 | TogoVar | ||||||
CERK_chr22_46679410_46743252 | 46691056 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG02040.hp2 HG02165.hp2 HG02615.hp1 others(5): Show |
a0001a0009 | a0001c0001a0001c0007a0001c0009others(1): Show | a0001c0001t0004a0001c0001t0034a0001c0001t0045others(3): Show | a0001c0001t0004g0101a0001c0001t0034g0304a0001c0001t0045g0111others(5): Show | 8 | 340 | 0.0235 | 18 | c.133 others(35): Show |
CERK | ENSG00000100422.14 | transcript | ENST00000216264.13 | protein_coding | 11/12 | chr22 | TogoVar | ||||||
CERK_chr22_46679410_46743252 | 46691056 | T | TACATACA others(11): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0010 | a0001c0010t0061 | a0001c0010t0061g0197 | 1 | 340 | 0.0029 | 18 | c.133 others(35): Show |
CERK | ENSG00000100422.14 | transcript | ENST00000216264.13 | protein_coding | 11/12 | chr22 | TogoVar | ||||||
CERK_chr22_46679410_46743252 | 46738321 | C | CGAGGAGG others(11): Show |
upstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0010 | a0001c0010t0027 | a0001c0010t0027g0183 | 1 | 340 | 0.0029 | 18 | c.-17 others(27): Show |
CERK | ENSG00000100422.14 | transcript | ENST00000216264.13 | protein_coding | 70 | chr22 | TogoVar | ||||||
CERS3_chr15_100395395_100533950 | 100466840 | C | CCTCTCTC others(11): Show |
intron_variant | MODIFIER | NA18962.hp1 NA19009.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147a0001c0001t0001g0177 | 2 | 362 | 0.0055 | 18 | c.845 others(35): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 10/11 | chr15 | TogoVar | ||||||
CERS3_chr15_100395395_100533950 | 100467846 | T | TAGATAGA others(11): Show |
intron_variant | MODIFIER | NA18965.hp1 NA19002.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200a0001c0001t0001g0237 | 2 | 362 | 0.0055 | 18 | c.845 others(35): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 10/11 | chr15 | TogoVar | ||||||
CERS3_chr15_100395395_100533950 | 100467850 | T | TAGATAGA others(11): Show |
intron_variant | MODIFIER | HG02273.hp2 HG06807.hp2 NA18973.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0004 | a0001c0001t0001g0150a0001c0001t0001g0151a0001c0001t0001g0199others(1): Show | 4 | 362 | 0.0111 | 18 | c.845 others(35): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 10/11 | chr15 | TogoVar | ||||||
CERS3_chr15_100395395_100533950 | 100467850 | T | TATATAGA others(11): Show |
intron_variant | MODIFIER | HG02109.hp2 NA18999.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0004 | a0001c0001t0001g0005a0002c0002t0004g0058 | 2 | 362 | 0.0055 | 18 | c.845 others(35): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 10/11 | chr15 | TogoVar | ||||||
CERS3_chr15_100395395_100533950 | 100467874 | G | GATAGATA others(11): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02895.hp2 HG03130.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0008a0001c0001t0021a0001c0003t0012others(1): Show | a0001c0001t0008g0104a0001c0001t0021g0320a0001c0003t0012g0349others(3): Show | 6 | 362 | 0.0166 | 18 | c.845 others(35): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 10/11 | chr15 | TogoVar | ||||||
CERS3_chr15_100395395_100533950 | 100526478 | C | CTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01167.hp1 HG01168.hp2 others(39): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0136a0001c0001t0001g0137a0001c0001t0001g0140others(39): Show | 42 | 362 | 0.1160 | 18 | c.-92 others(35): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 1/11 | chr15 | TogoVar | ||||||
CERS4_chr19_8204370_8267421 | 8231851 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0004 | a0004c0009 | a0004c0009t0007 | a0004c0009t0007g0336 | 1 | 418 | 0.0024 | 18 | c.-1- others(35): 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(11): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00621.hp1 HG02015.hp1 others(11): Show |
a0001 | a0001c0001a0001c0008a0001c0015 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0125a0001c0001t0001g0408a0001c0001t0002g0135others(11): Show | 14 | 418 | 0.0335 | 18 | c.-1- others(35): 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(11): Show |
downstream_gene_variant | MODIFIER | HG02300.hp1 HG03490.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0002 | a0001c0001t0003g0046a0001c0002t0002g0365 | 2 | 418 | 0.0048 | 18 | c.*47 others(29): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 4443 | chr19 | TogoVar | ||||||
CERS4_chr19_8204370_8267421 | 8267294 | C | CAAAAAAA others(11): Show |
downstream_gene_variant | MODIFIER | HG02683.hp1 NA18612.hp2 NA18747.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0010others(1): Show | a0001c0001t0002g0270a0001c0001t0002g0315a0001c0001t0002g0344others(8): Show | 11 | 418 | 0.0263 | 18 | c.*51 others(29): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 4874 | chr19 | TogoVar | ||||||
CERS5_chr12_50124289_50172369 | 50135308 | A | AGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0018 | 1 | 320 | 0.0031 | 18 | c.872 others(33): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 8/9 | chr12 | TogoVar | ||||||
CERS5_chr12_50124289_50172369 | 50148923 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01928.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0146a0001c0002t0002g0176 | 2 | 320 | 0.0063 | 18 | c.198 others(35): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 1/9 | chr12 | TogoVar | ||||||
CERS5_chr12_50124289_50172369 | 50148925 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01993.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0076a0001c0002t0002g0241a0001c0002t0002g0242 | 3 | 320 | 0.0094 | 18 | c.198 others(35): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 1/9 | chr12 | TogoVar | ||||||
CERS5_chr12_50124289_50172369 | 50156420 | C | CTATATAT others(11): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0189 | 1 | 320 | 0.0031 | 18 | c.197 others(37): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 1/9 | chr12 | TogoVar | ||||||
CERS5_chr12_50124289_50172369 | 50156437 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG00673.hp1 NA18747.hp1 |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0024a0002c0003t0003g0046 | 2 | 320 | 0.0063 | 18 | c.197 others(37): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 1/9 | chr12 | TogoVar | ||||||
CERS5_chr12_50124289_50172369 | 50161784 | G | GAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 320 | 0.0031 | 18 | c.197 others(35): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 1/9 | chr12 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168455505 | T | TATCATCA others(11): Show |
upstream_gene_variant | MODIFIER | HG01074.hp2 HG02818.hp2 HG02896.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0120a0001c0001t0002g0114a0001c0001t0004g0135others(9): Show | 12 | 176 | 0.0682 | 18 | c.-94 others(27): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 766 | chr2 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168477173 | C | CAGAGAGA others(11): Show |
intron_variant | MODIFIER | HG02922.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0010 | a0001c0001t0006g0032a0001c0001t0010g0033 | 2 | 176 | 0.0114 | 18 | c.170 others(37): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CERS6_chr2_168451272_168780134 | 168520598 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02257.hp2 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0037 | a0001c0001t0001g0025a0001c0001t0037g0084 | 2 | 176 | 0.0114 | 18 | c.171 others(37): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |