view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | a0001c0001t0014g0001 a0001c0001t0014g0123 a0001c0001t0020g0054 others(22): Show |
29 | 41 | 0.7073 | 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 | a0003c0005t0032 | a0003c0005t0032g0208 | 1 | 218 | 0.0046 | 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 | a0001c0001t0005a0001c0001t0013 | a0001c0001t0005g0164 a0001c0001t0013g0197 |
2 | 56 | 0.0357 | 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 | a0002c0002t0002 | a0002c0002t0002g0028 | 1 | 188 | 0.0053 | 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 | a0001c0001t0005g0124 a0001c0001t0005g0127 a0001c0001t0025g0119 others(1): Show |
4 | 9 | 0.4444 | 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 | a0001c0001t0001g0148 a0001c0001t0001g0302 a0001c0001t0029g0136 others(8): Show |
11 | 17 | 0.6471 | 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 | 73 | 0.0137 | 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 | a0002c0002t0001g0018 a0002c0002t0001g0195 a0002c0002t0001g0196 others(13): Show |
17 | 132 | 0.1288 | 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 | a0001c0001t0008g0246 | 1 | 249 | 0.0040 | 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 | a0001c0001t0001g0103 | 1 | 94 | 0.0106 | 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 | a0001c0001t0007g0031 | 1 | 181 | 0.0055 | 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 | a0001c0001t0001g0231 | 1 | 181 | 0.0055 | 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 | a0002c0002t0002g0213 a0002c0002t0002g0223 |
2 | 58 | 0.0345 | 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 | a0003c0003t0003g0025 | 1 | 117 | 0.0085 | 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 | a0002c0012t0005g0262 | 1 | 183 | 0.0055 | 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 | a0001c0001t0001g0298 a0003c0003t0004g0017 a0003c0003t0004g0297 others(1): Show |
4 | 213 | 0.0188 | 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 | a0001c0001t0001g0272 a0004c0004t0003g0277 a0004c0004t0003g0280 others(2): Show |
5 | 103 | 0.0485 | 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 | a0001c0001t0003g0125 a0001c0001t0003g0135 |
2 | 99 | 0.0202 | 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 | a0001c0001t0001g0271 | 1 | 20 | 0.0500 | 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(20): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0003a0003c0003t0004 | a0001c0001t0003g0003 a0001c0001t0003g0098 a0001c0001t0003g0103 others(18): Show |
23 | 42 | 0.5476 | 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 | a0001c0001t0002g0019 | 1 | 339 | 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 | a0001c0002t0001g0025 a0001c0002t0001g0029 a0001c0004t0001g0205 others(1): Show |
4 | 277 | 0.0144 | 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 | a0001c0004t0001g0195 | 1 | 271 | 0.0037 | 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 |
a0001a0008 | a0001c0002a0008c0011 | a0001c0002t0010a0008c0011t0012 | a0001c0002t0010g0374 a0008c0011t0012g0377 |
2 | 171 | 0.0117 | 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 | a0001c0001t0004g0013 a0001c0001t0004g0303 |
3 | 338 | 0.0089 | 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 | a0001c0001t0006g0213 | 1 | 251 | 0.0040 | 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 | a0001c0003t0001g0199 | 1 | 398 | 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 |
a0001a0012 | a0001c0001a0001c0007a0001c0009others(1): Show | a0001c0001t0003a0001c0001t0026a0001c0001t0043others(3): Show | a0001c0001t0003g0102 a0001c0001t0026g0302 a0001c0001t0043g0112 others(5): Show |
8 | 70 | 0.1143 | 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 | a0001c0010t0058 | a0001c0010t0058g0193 | 1 | 63 | 0.0159 | 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 | a0001c0010t0025 | a0001c0010t0025g0181 | 1 | 338 | 0.0030 | 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 | a0001c0001t0001g0147 a0001c0001t0001g0177 |
2 | 103 | 0.0194 | 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 | a0001c0001t0001g0200 a0001c0001t0001g0236 |
2 | 337 | 0.0059 | 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 | a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0198 others(1): Show |
4 | 149 | 0.0268 | 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 | a0001c0001t0001g0005 a0002c0002t0004g0058 |
2 | 147 | 0.0136 | 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 | a0001c0001t0008g0104 a0001c0001t0021g0320 a0001c0003t0012g0349 others(3): Show |
6 | 333 | 0.0180 | 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 | a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 others(39): Show |
42 | 45 | 0.9333 | 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 | a0004c0009t0007g0331 | 1 | 40 | 0.0250 | 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 | a0001c0001t0001g0125 a0001c0001t0001g0408 a0001c0001t0002g0130 others(11): Show |
14 | 92 | 0.1522 | 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 | a0001c0001t0003g0046 a0001c0002t0002g0360 |
2 | 56 | 0.0357 | 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 | a0001c0001t0002g0257 a0001c0001t0002g0319 a0001c0001t0002g0339 others(8): Show |
11 | 118 | 0.0932 | 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 | a0002c0003t0003g0020 | 1 | 50 | 0.0200 | 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 | a0001c0002t0002g0148 a0001c0002t0002g0178 |
2 | 226 | 0.0088 | 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 | a0001c0002t0002g0078 a0001c0002t0002g0249 a0001c0002t0002g0250 |
3 | 212 | 0.0142 | 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 | a0001c0001t0015g0191 | 1 | 141 | 0.0071 | 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 | a0002c0003t0003g0026 a0002c0003t0003g0048 |
2 | 275 | 0.0073 | 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 | a0001c0001t0001g0187 | 1 | 83 | 0.0120 | 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 | a0001c0001t0001g0120 a0001c0001t0002g0114 a0001c0001t0004g0135 others(9): Show |
12 | 33 | 0.3636 | 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 | a0001c0001t0006g0032 a0001c0001t0010g0033 |
2 | 27 | 0.0741 | 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 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0084 | 1 | 17 | 0.0588 | 18 | c.171 others(37): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168559733 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00609.hp1 HG00621.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0089 a0001c0001t0001g0123 a0001c0001t0001g0159 others(12): Show |
15 | 39 | 0.3846 | 18 | c.277 others(35): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 2/9 | chr2 | TogoVar |