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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CEP57L1_chr6_109090507_109179418 | 109177637 | A | AATATATA others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00438.hp1 others(17): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(11): Show | a0001c0001t0001g0042 a0001c0001t0001g0058 a0001c0001t0001g0121 others(16): Show |
20 | 228 | 0.0877 | 8 | c.*14 others(21): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 3220 | chr6 | TogoVar | |||||||
CEP63_chr3_134481057_134570031 | 134494092 | A | ATATTTAT others(1): Show |
intron_variant | MODIFIER | HG01175.hp1 HG02074.hp1 HG02145.hp1 others(8): Show |
a0001a0006 | a0001c0001a0006c0014 | a0001c0001t0002a0001c0001t0006a0006c0014t0016 | a0001c0001t0002g0017 a0001c0001t0002g0029 a0001c0001t0002g0067 others(8): Show |
11 | 322 | 0.0342 | 8 | c.-25 others(25): Show |
CEP63 | ENSG00000182923.20 | transcript | ENST00000675561.1 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CEP63_chr3_134481057_134570031 | 134528569 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01109.hp2 HG01891.hp1 others(17): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0020a0001c0003t0003others(3): Show | a0001c0001t0001g0149 a0001c0001t0001g0206 a0001c0001t0001g0207 others(17): Show |
20 | 322 | 0.0621 | 8 | c.223 others(25): Show |
CEP63 | ENSG00000182923.20 | transcript | ENST00000675561.1 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CEP63_chr3_134481057_134570031 | 134538531 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01255.hp2 HG02015.hp1 others(4): Show |
a0001a0007a0010 | a0001c0001a0001c0003a0007c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0003others(2): Show | a0001c0001t0001g0299 a0001c0001t0002g0060 a0001c0001t0002g0104 others(4): Show |
7 | 322 | 0.0217 | 8 | c.555 others(25): Show |
CEP63 | ENSG00000182923.20 | transcript | ENST00000675561.1 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CEP70_chr3_138489344_138599260 | 138499783 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00558.hp2 others(74): Show |
a0002a0003 | a0002c0002a0002c0012a0003c0003 | a0002c0002t0002a0002c0012t0002a0003c0003t0003 | a0002c0002t0002g0002 a0002c0002t0002g0005 a0002c0002t0002g0006 others(62): Show |
77 | 318 | 0.2421 | 8 | c.165 others(25): Show |
CEP70 | ENSG00000114107.9 | transcript | ENST00000264982.8 | protein_coding | 16/17 | chr3 | TogoVar | |||||||
CEP70_chr3_138489344_138599260 | 138544509 | G | GTGTATGT others(1): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02622.hp2 HG03225.hp1 others(2): Show |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0039 a0003c0003t0003g0064 a0003c0003t0003g0065 others(2): Show |
5 | 318 | 0.0157 | 8 | c.466 others(25): Show |
CEP70 | ENSG00000114107.9 | transcript | ENST00000264982.8 | protein_coding | 6/17 | chr3 | TogoVar | |||||||
CEP72_chr5_607340_658553 | 650412 | G | GGTGTGGA others(1): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01433.hp1 HG02602.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 others(4): Show |
7 | 91 | 0.0769 | 8 | c.177 others(27): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | TogoVar | |||||||
CEP76_chr18_12667625_12707723 | 12695852 | C | CCACACAC others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00741.hp2 HG01516.hp2 others(10): Show |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0001a0001c0001t0002a0003c0008t0001 | a0001c0001t0001g0048 a0001c0001t0001g0084 a0001c0001t0001g0085 others(8): Show |
13 | 380 | 0.0342 | 8 | c.707 others(23): Show |
CEP76 | ENSG00000101624.11 | transcript | ENST00000262127.7 | protein_coding | 5/11 | chr18 | TogoVar | |||||||
CEP76_chr18_12667625_12707723 | 12705570 | A | AGTGTGTG others(1): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 HG01109.hp1 HG01261.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0013 others(10): Show |
21 | 380 | 0.0553 | 8 | c.-30 others(19): Show |
CEP76 | ENSG00000101624.11 | transcript | ENST00000262127.7 | protein_coding | 2848 | chr18 | TogoVar | |||||||
CEP78_chr9_78231075_78284690 | 78236969 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02083.hp1 HG02258.hp2 others(3): Show |
a0001 | a0001c0003a0001c0004a0001c0008 | a0001c0003t0004a0001c0003t0009a0001c0004t0023others(1): Show | a0001c0003t0004g0214 a0001c0003t0009g0215 a0001c0003t0009g0217 others(3): Show |
6 | 340 | 0.0177 | 8 | c.253 others(23): Show |
CEP78 | ENSG00000148019.14 | transcript | ENST00000643273.2 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CEP83_chr12_94302698_94464867 | 94347050 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00621.hp2 HG01069.hp1 others(65): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0033 a0001c0001t0001g0045 a0001c0001t0001g0067 others(65): Show |
68 | 364 | 0.1868 | 8 | c.134 others(29): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 11/16 | chr12 | TogoVar | |||||||
CEP83_chr12_94302698_94464867 | 94347068 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01192.hp2 HG01361.hp2 others(8): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0005 | a0001c0001t0001g0027 a0001c0001t0001g0225 a0001c0001t0001g0226 others(8): Show |
11 | 364 | 0.0302 | 8 | c.134 others(29): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 11/16 | chr12 | TogoVar | |||||||
CEP83_chr12_94302698_94464867 | 94365460 | G | GATTGCAT others(1): Show |
intron_variant | MODIFIER | HG02056.hp2 NA18962.hp1 NA19072.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0029 a0001c0001t0007g0030 a0001c0001t0007g0031 others(1): Show |
4 | 364 | 0.0110 | 8 | c.134 others(27): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 11/16 | chr12 | TogoVar | |||||||
CEP83_chr12_94302698_94464867 | 94376690 | T | TATACACA others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG01099.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0131 others(27): Show |
30 | 364 | 0.0824 | 8 | c.802 others(23): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 7/16 | chr12 | TogoVar | |||||||
CEP83_chr12_94302698_94464867 | 94423457 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00639.hp1 others(32): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(2): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(32): Show |
35 | 364 | 0.0962 | 8 | c.-10 others(29): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 2/16 | chr12 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118491196 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01934.hp2 HG02273.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0072 a0001c0001t0004g0083 a0001c0001t0004g0085 others(4): Show |
7 | 302 | 0.0232 | 8 | c.143 others(25): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 6/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118519432 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00735.hp2 HG01952.hp1 others(15): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0007 | a0001c0001t0001a0001c0001t0004a0002c0002t0002others(1): Show | a0001c0001t0001g0061 a0001c0001t0001g0118 a0001c0001t0001g0127 others(15): Show |
18 | 302 | 0.0596 | 8 | c.113 others(27): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 4/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118519474 | G | GTGTGTGG others(1): Show |
intron_variant | MODIFIER | HG02145.hp2 NA18968.hp2 NA18992.hp2 others(3): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0006 | a0001c0001t0001a0002c0002t0002a0006c0006t0009 | a0001c0001t0001g0145 a0002c0002t0002g0194 a0002c0002t0002g0211 others(3): Show |
6 | 302 | 0.0199 | 8 | c.113 others(27): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 4/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118519539 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01975.hp2 HG01978.hp2 |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0009 a0003c0003t0003g0010 a0003c0003t0003g0013 |
3 | 302 | 0.0099 | 8 | c.113 others(27): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 4/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118558626 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00621.hp2 HG01109.hp1 others(12): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0005a0002c0002t0026others(1): Show | a0002c0002t0002g0188 a0002c0002t0002g0195 a0002c0002t0002g0197 others(12): Show |
15 | 302 | 0.0497 | 8 | c.102 others(27): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 3/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118600370 | T | TGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01123.hp1 HG02976.hp2 HG03942.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0005 | a0002c0002t0002g0184 a0002c0002t0002g0242 a0002c0002t0005g0266 others(1): Show |
4 | 302 | 0.0133 | 8 | c.232 others(27): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118604922 | G | GGCATTAA others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00544.hp2 others(98): Show |
a0002a0003 | a0002c0002a0002c0012a0003c0003 | a0002c0002t0002a0002c0002t0005a0002c0002t0014others(10): Show | a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0175 others(98): Show |
101 | 302 | 0.3344 | 8 | c.232 others(27): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118613757 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG02027.hp1 HG02280.hp2 others(9): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0001a0001c0001t0018a0002c0002t0002others(4): Show | a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0018g0150 others(9): Show |
12 | 302 | 0.0397 | 8 | c.232 others(27): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118614849 | T | TAGACAGA others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00544.hp2 others(37): Show |
a0002a0003 | a0002c0002a0002c0012a0003c0003 | a0002c0002t0002a0002c0002t0005a0002c0002t0024others(3): Show | a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0002g0179 others(37): Show |
40 | 302 | 0.1325 | 8 | c.232 others(27): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118614865 | C | CAGATAGA others(1): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01516.hp1 HG01517.hp2 others(5): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0003a0004c0004others(1): Show | a0001c0001t0001a0003c0003t0003a0004c0004t0006others(1): Show | a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0134 others(5): Show |
8 | 302 | 0.0265 | 8 | c.232 others(27): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
CEP85_chr1_26229200_26283808 | 26238202 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(30): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(8): Show | a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 others(30): Show |
33 | 342 | 0.0965 | 8 | c.-22 others(25): 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(1): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02615.hp1 HG02622.hp1 others(4): Show |
a0001a0004 | a0001c0001a0004c0004a0004c0010 | a0001c0001t0001a0001c0001t0003a0004c0004t0003others(1): Show | a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0003g0117 others(4): Show |
7 | 342 | 0.0205 | 8 | c.208 others(25): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CEP85_chr1_26229200_26283808 | 26273900 | C | CTAAATAA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00609.hp2 HG00621.hp2 others(42): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0006 | a0001c0001t0001a0002c0002t0001a0002c0002t0007others(2): Show | a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 others(41): Show |
45 | 342 | 0.1316 | 8 | c.179 others(27): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 11/13 | chr1 | TogoVar | |||||||
CEP85_chr1_26229200_26283808 | 26273901 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00544.hp1 HG00639.hp2 others(54): Show |
a0001a0007a0009others(1): Show | a0001c0001a0001c0009a0007c0021others(2): Show | a0001c0001t0003a0001c0009t0003a0007c0021t0003others(2): Show | a0001c0001t0003g0003 a0001c0001t0003g0099 a0001c0001t0003g0100 others(52): Show |
57 | 342 | 0.1667 | 8 | c.179 others(27): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CEP89_chr19_32870925_32976958 | 32902004 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG04115.hp2 NA18982.hp2 others(4): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0002t0031a0001c0004t0001 | a0001c0002t0001g0036 a0001c0002t0001g0063 a0001c0002t0031g0054 others(4): Show |
7 | 386 | 0.0181 | 8 | c.156 others(25): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 14/18 | chr19 | TogoVar | |||||||
CEP89_chr19_32870925_32976958 | 32902010 | C | CTCTCTCT others(1): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01361.hp1 HG01516.hp1 others(14): Show |
a0005a0017 | a0005c0006a0017c0024 | a0005c0006t0007a0005c0006t0009a0005c0006t0035others(1): Show | a0005c0006t0007g0086 a0005c0006t0007g0128 a0005c0006t0007g0129 others(14): Show |
17 | 386 | 0.0440 | 8 | c.156 others(25): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 14/18 | chr19 | TogoVar | |||||||
CEP89_chr19_32870925_32976958 | 32902010 | C | CTCTGTGT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01496.hp1 HG02055.hp2 others(9): Show |
a0002a0003a0006others(1): Show | a0002c0001a0003c0003a0006c0008others(1): Show | a0002c0001t0002a0002c0001t0008a0003c0003t0010others(2): Show | a0002c0001t0002g0073 a0002c0001t0002g0155 a0002c0001t0002g0158 others(9): Show |
12 | 386 | 0.0311 | 8 | c.156 others(25): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 14/18 | chr19 | TogoVar | |||||||
CEP89_chr19_32870925_32976958 | 32927113 | C | CACCCACC others(1): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01106.hp1 HG01361.hp1 others(32): Show |
a0003a0005a0006others(1): Show | a0003c0010a0005c0006a0006c0008others(1): Show | a0003c0010t0016a0005c0006t0007a0005c0006t0009others(4): Show | a0003c0010t0016g0168 a0003c0010t0016g0366 a0005c0006t0007g0086 others(32): Show |
35 | 386 | 0.0907 | 8 | c.103 others(25): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 9/18 | chr19 | TogoVar | |||||||
CEP89_chr19_32870925_32976958 | 32944220 | T | TAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01106.hp1 HG01361.hp1 others(18): Show |
a0001a0003a0005 | a0001c0004a0003c0010a0005c0006 | a0001c0004t0001a0003c0010t0016a0005c0006t0007others(5): Show | a0001c0004t0001g0186 a0003c0010t0016g0168 a0003c0010t0016g0366 others(18): Show |
21 | 386 | 0.0544 | 8 | c.595 others(25): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
CEP89_chr19_32870925_32976958 | 32951532 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01978.hp1 NA18954.hp1 NA19054.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0074 a0001c0004t0001g0171 a0001c0004t0001g0199 |
3 | 386 | 0.0078 | 8 | c.492 others(25): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 4/18 | chr19 | TogoVar | |||||||
CEP89_chr19_32870925_32976958 | 32951534 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01106.hp2 HG01243.hp2 others(10): Show |
a0001a0004a0006 | a0001c0004a0004c0005a0006c0008 | a0001c0004t0001a0004c0005t0005a0004c0005t0015others(1): Show | a0001c0004t0001g0189 a0004c0005t0005g0101 a0004c0005t0005g0103 others(10): Show |
13 | 386 | 0.0337 | 8 | c.492 others(25): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 4/18 | chr19 | TogoVar | |||||||
CEP89_chr19_32870925_32976958 | 32951534 | T | TATATACA others(1): Show |
intron_variant | MODIFIER | HG02056.hp1 HG02129.hp1 NA18949.hp1 others(3): Show |
a0005a0011 | a0005c0006a0011c0017 | a0005c0006t0007a0005c0006t0035a0011c0017t0003 | a0005c0006t0007g0086 a0005c0006t0007g0131 a0005c0006t0007g0133 others(3): Show |
6 | 386 | 0.0155 | 8 | c.492 others(25): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 4/18 | chr19 | TogoVar | |||||||
CEP95_chr17_64501977_64542946 | 64538581 | A | AAGATAGA others(1): Show |
downstream_gene_variant | MODIFIER | HG01175.hp1 HG02109.hp2 HG02486.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012 a0001c0001t0002g0018 a0001c0001t0002g0032 others(7): Show |
12 | 248 | 0.0484 | 8 | c.*80 others(17): Show |
CEP95 | ENSG00000258890.8 | transcript | ENST00000556440.7 | protein_coding | 636 | chr17 | TogoVar | |||||||
CEP95_chr17_64501977_64542946 | 64540759 | G | GTATATAT others(1): Show |
downstream_gene_variant | MODIFIER | HG00673.hp1 HG01106.hp2 HG02451.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0083 others(3): Show |
7 | 248 | 0.0282 | 8 | c.*29 others(19): Show |
CEP95 | ENSG00000258890.8 | transcript | ENST00000556440.7 | protein_coding | 2814 | chr17 | TogoVar | |||||||
CER1_chr9_14714724_14727733 | 14719557 | G | GCCTTCCT others(1): Show |
downstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG02647.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 5 | 460 | 0.0109 | 8 | c.*53 others(17): Show |
CER1 | ENSG00000147869.5 | transcript | ENST00000380911.4 | protein_coding | 166 | chr9 | TogoVar | |||||||
CER1_chr9_14714724_14727733 | 14723164 | T | TCACACAC others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG02273.hp2 HG02922.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001 | a0001c0001t0001g0001 a0002c0002t0001g0019 a0003c0003t0001g0040 |
6 | 460 | 0.0130 | 8 | c.-49 others(17): Show |
CER1 | ENSG00000147869.5 | transcript | ENST00000380911.4 | protein_coding | 432 | chr9 | TogoVar | |||||||
CERCAM_chr9_128415857_128442347 | 128437361 | G | GTATGTAT others(1): Show |
downstream_gene_variant | MODIFIER | HG00673.hp2 HG02080.hp1 HG02135.hp1 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0020 a0001c0002t0001g0034 a0001c0002t0001g0043 others(4): Show |
8 | 400 | 0.0200 | 8 | c.*51 others(17): Show |
CERCAM | ENSG00000167123.20 | transcript | ENST00000372838.9 | protein_coding | 15 | chr9 | TogoVar | |||||||
CERKL_chr2_181531672_181662105 | 181572780 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02055.hp1 HG02486.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0005others(2): Show | a0001c0001t0001g0150 a0001c0002t0001g0063 a0001c0002t0005g0090 others(4): Show |
7 | 298 | 0.0235 | 8 | c.613 others(23): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 3/12 | chr2 | TogoVar | |||||||
CERKL_chr2_181531672_181662105 | 181609533 | T | TAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00609.hp1 others(51): Show |
a0001a0002a0009 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0236 others(51): Show |
54 | 298 | 0.1812 | 8 | c.239 others(25): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
CERKL_chr2_181531672_181662105 | 181650079 | A | AAGGGAGG others(1): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01358.hp2 HG02647.hp1 others(3): Show |
a0001a0008 | a0001c0002a0008c0012 | a0001c0002t0002a0001c0002t0003a0001c0002t0025others(1): Show | a0001c0002t0002g0018 a0001c0002t0003g0002 a0001c0002t0003g0020 others(2): Show |
6 | 298 | 0.0201 | 8 | c.238 others(25): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
CERKL_chr2_181531672_181662105 | 181650103 | G | GAGGAAGG others(1): Show |
intron_variant | MODIFIER | NA18964.hp2 NA18983.hp2 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0278 a0001c0001t0002g0276 a0001c0001t0002g0277 |
3 | 298 | 0.0101 | 8 | c.238 others(25): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
CERKL_chr2_181531672_181662105 | 181650111 | G | GAGGAAGG others(1): Show |
intron_variant | MODIFIER | NA18970.hp1 NA18970.hp2 NA19030.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0001c0001t0003a0002c0004t0003 | a0001c0001t0002g0255 a0001c0001t0003g0256 a0002c0004t0003g0293 |
3 | 298 | 0.0101 | 8 | c.238 others(25): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
CERK_chr22_46679410_46743252 | 46680615 | C | CATCCACC others(1): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG02055.hp1 HG02145.hp2 others(3): Show |
a0001a0013 | a0001c0001a0001c0002a0001c0010others(2): Show | a0001c0001t0040a0001c0001t0056a0001c0002t0031others(3): Show | a0001c0001t0040g0041 a0001c0001t0056g0268 a0001c0002t0031g0278 others(3): Show |
6 | 340 | 0.0177 | 8 | c.*65 others(19): Show |
CERK | ENSG00000100422.14 | transcript | ENST00000216264.13 | protein_coding | 3794 | chr22 | TogoVar | |||||||
CERK_chr22_46679410_46743252 | 46680631 | C | CATCCATC others(1): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG02055.hp1 HG02145.hp2 others(3): Show |
a0001a0013 | a0001c0001a0001c0002a0001c0010others(2): Show | a0001c0001t0040a0001c0001t0056a0001c0002t0031others(3): Show | a0001c0001t0040g0041 a0001c0001t0056g0268 a0001c0002t0031g0278 others(3): Show |
6 | 340 | 0.0177 | 8 | c.*65 others(19): Show |
CERK | ENSG00000100422.14 | transcript | ENST00000216264.13 | protein_coding | 3778 | chr22 | TogoVar | |||||||
CERK_chr22_46679410_46743252 | 46680805 | C | CCCATCCA others(1): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 HG00642.hp2 HG01433.hp2 others(7): Show |
a0001a0015 | a0001c0001a0001c0003a0001c0010others(2): Show | a0001c0001t0001a0001c0001t0014a0001c0001t0018others(5): Show | a0001c0001t0001g0079 a0001c0001t0014g0198 a0001c0001t0014g0290 others(6): Show |
10 | 340 | 0.0294 | 8 | c.*63 others(19): Show |
CERK | ENSG00000100422.14 | transcript | ENST00000216264.13 | protein_coding | 3604 | chr22 | TogoVar |