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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CECR2_chr22_17364460_17563151 | 17447033 | C | CTGTTTTT others(6): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00741.hp1 HG01109.hp1 others(24): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0008a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0089 a0001c0001t0001g0226 a0001c0001t0002g0188 others(24): Show |
27 | 177 | 0.1525 | 13 | c.127 others(32): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CECR2_chr22_17364460_17563151 | 17482115 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0106 | 1 | 36 | 0.0278 | 13 | c.221 others(30): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CECR2_chr22_17364460_17563151 | 17525285 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0278 | 1 | 157 | 0.0064 | 13 | c.110 others(32): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 9/18 | chr22 | TogoVar | |||||||
CECR2_chr22_17364460_17563151 | 17545374 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0309 | 1 | 122 | 0.0082 | 13 | c.286 others(32): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 16/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CECR2_chr22_17364460_17563151 | 17552774 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02965.hp2 HG03139.hp2 others(1): Show |
a0001 | a0001c0001a0001c0009a0001c0017 | a0001c0001t0015a0001c0001t0036a0001c0009t0028others(1): Show | a0001c0001t0015g0166 a0001c0001t0036g0283 a0001c0009t0028g0195 others(1): Show |
4 | 122 | 0.0328 | 13 | c.439 others(28): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CELA1_chr12_51323442_51351679 | 51350956 | T | TTGGTTGG others(6): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(361): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0003a0001c0004others(11): Show | a0001c0002t0002a0001c0003t0001a0001c0003t0002others(13): Show | a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0002t0002g0013 others(186): Show |
364 | 404 | 0.9010 | 13 | c.-43 others(24): Show |
CELA1 | ENSG00000139610.2 | transcript | ENST00000293636.2 | protein_coding | 4278 | chr12 | TogoVar | |||||||
CELF1_chr11_47460937_47558132 | 47489935 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02559.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0001 a0001c0001t0004g0009 |
3 | 70 | 0.0429 | 13 | c.72- others(26): Show |
CELF1 | ENSG00000149187.19 | transcript | ENST00000687097.1 | protein_coding | 3/14 | chr11 | TogoVar | |||||||
CELF2_chr10_11012872_11341675 | 11032146 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02055.hp2 HG03453.hp1 |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0003 | a0001c0004t0001g0023 a0001c0004t0003g0025 |
2 | 41 | 0.0488 | 13 | c.74+ others(30): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CELF2_chr10_11012872_11341675 | 11262940 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02129.hp1 HG03239.hp2 NA19005.hp2 |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0001a0001c0002t0001a0001c0010t0014 | a0001c0001t0001g0187 a0001c0002t0001g0167 a0001c0010t0014g0159 |
3 | 5 | 0.6000 | 13 | c.539 others(30): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CELF4_chr18_37238040_37570798 | 37416582 | G | GGGACCAT others(6): Show |
intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0074 | 1 | 182 | 0.0055 | 13 | c.369 others(32): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 2/12 | chr18 | TogoVar | |||||||
CELF4_chr18_37238040_37570798 | 37443562 | T | TCAGTGTG others(6): Show |
intron_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0164 | 1 | 182 | 0.0055 | 13 | c.369 others(32): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 2/12 | chr18 | TogoVar | |||||||
CELF5_chr19_3219661_3302076 | 3226476 | A | ACACACAC others(6): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01496.hp1 HG02145.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0003g0111 others(1): Show |
4 | 252 | 0.0159 | 13 | c.259 others(30): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 1/12 | chr19 | TogoVar | |||||||
CELF6_chr15_72279727_72325157 | 72314589 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02809.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0172 a0001c0001t0002g0192 |
2 | 195 | 0.0103 | 13 | c.345 others(30): Show |
CELF6 | ENSG00000140488.16 | transcript | ENST00000287202.10 | protein_coding | 2/12 | chr15 | TogoVar | |||||||
CELF6_chr15_72279727_72325157 | 72325128 | T | TTTTCTTT others(6): Show |
upstream_gene_variant | MODIFIER | NA18946.hp2 NA19080.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0144 a0001c0001t0002g0147 |
2 | 290 | 0.0069 | 13 | c.-52 others(24): Show |
CELF6 | ENSG00000140488.16 | transcript | ENST00000287202.10 | protein_coding | 4972 | chr15 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46366032 | G | GGGGGGAA others(6): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00735.hp2 HG01106.hp1 others(15): Show |
a0002a0004a0007others(11): Show | a0002c0005a0002c0015a0004c0013others(14): Show | a0002c0005t0002a0002c0015t0001a0004c0013t0001others(14): Show | a0002c0005t0002g0036 a0002c0005t0002g0065 a0002c0015t0001g0022 others(15): Show |
18 | 101 | 0.1782 | 13 | c.830 others(30): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46366053 | A | AAAGGTGG others(6): Show |
intron_variant | MODIFIER | HG02486.hp1 NA19043.hp2 |
a0020a0043 | a0020c0010a0043c0042 | a0020c0010t0001a0043c0042t0001 | a0020c0010t0001g0007 a0043c0042t0001g0052 |
2 | 98 | 0.0204 | 13 | c.830 others(30): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46416108 | G | GGGGGGGG others(6): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0038 | a0038c0048 | a0038c0048t0001 | a0038c0048t0001g0086 | 1 | 90 | 0.0111 | 13 | c.461 others(32): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46439933 | C | CACCCCTC others(6): Show |
intron_variant | MODIFIER | HG02615.hp1 NA18906.hp1 |
a0021a0038 | a0021c0036a0038c0048 | a0021c0036t0006a0038c0048t0001 | a0021c0036t0006g0002 a0038c0048t0001g0086 |
2 | 102 | 0.0196 | 13 | c.418 others(30): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | TogoVar | |||||||
CEMIP2_chr9_71678366_71773513 | 71732686 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02145.hp1 HG02809.hp1 |
a0001a0006 | a0001c0001a0001c0009a0006c0006 | a0001c0001t0046a0001c0009t0005a0006c0006t0036 | a0001c0001t0046g0273 a0001c0009t0005g0241 a0006c0006t0036g0274 |
3 | 23 | 0.1304 | 13 | c.139 others(30): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 6/23 | chr9 | TogoVar | |||||||
CEMIP2_chr9_71678366_71773513 | 71755381 | A | ACACACAC others(6): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0309 | 1 | 315 | 0.0032 | 13 | c.-12 others(30): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 1/23 | chr9 | TogoVar | |||||||
CEMIP2_chr9_71678366_71773513 | 71762503 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0009 | a0009c0016 | a0009c0016t0004 | a0009c0016t0004g0132 | 1 | 55 | 0.0182 | 13 | c.-13 others(30): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 1/23 | chr9 | TogoVar | |||||||
CEMIP_chr15_80774370_80956771 | 80839331 | T | TGTGTGTG others(6): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 250 | 0.0040 | 13 | c.-17 others(34): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 1/29 | chr15 | TogoVar | |||||||
CEMIP_chr15_80774370_80956771 | 80900585 | G | GTGTGTGT others(6): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01943.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 a0001c0001t0001g0063 |
2 | 134 | 0.0149 | 13 | c.141 others(32): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 12/29 | chr15 | TogoVar | |||||||
CEMIP_chr15_80774370_80956771 | 80900648 | G | GTGTGTGT others(6): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 246 | 0.0041 | 13 | c.141 others(32): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 12/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CEMP1_chr16_2525035_2536408 | 2526682 | A | AATCCCAG others(6): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 346 | 0.0029 | 13 | c.*36 others(24): Show |
CEMP1 | ENSG00000205923.3 | transcript | ENST00000567119.1 | protein_coding | 3352 | chr16 | TogoVar | |||||||
CEMP1_chr16_2525035_2536408 | 2533275 | C | CTTTTTTT others(6): Show |
upstream_gene_variant | MODIFIER | HG00621.hp2 HG01346.hp2 HG02165.hp1 others(4): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0005 | a0001c0001t0001a0002c0002t0005a0003c0005t0001 | a0001c0001t0001g0000 a0002c0002t0005g0000 a0003c0005t0001g0000 |
7 | 19 | 0.3684 | 13 | c.-22 others(24): Show |
CEMP1 | ENSG00000205923.3 | transcript | ENST00000567119.1 | protein_coding | 1868 | chr16 | TogoVar | |||||||
CEMP1_chr16_2525035_2536408 | 2533430 | A | ATTTTTTT others(6): Show |
upstream_gene_variant | MODIFIER | HG01257.hp2 HG02300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 14 | 0.1429 | 13 | c.-23 others(24): Show |
CEMP1 | ENSG00000205923.3 | transcript | ENST00000567119.1 | protein_coding | 2023 | chr16 | TogoVar | |||||||
CENATAC_chr11_118993138_119020793 | 118996717 | T | TCCCCCCC others(6): Show |
upstream_gene_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 316 | 0.0032 | 13 | c.-14 others(24): Show |
CENATAC | ENSG00000186166.9 | transcript | ENST00000334418.6 | protein_coding | 1420 | chr11 | TogoVar | |||||||
CENPA_chr2_26781056_26799589 | 26784448 | C | CTTTTTTT others(6): Show |
upstream_gene_variant | MODIFIER | HG00738.hp1 HG00738.hp2 HG01106.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0011 others(2): Show |
13 | 122 | 0.1066 | 13 | c.-17 others(24): Show |
CENPA | ENSG00000115163.15 | transcript | ENST00000335756.9 | protein_coding | 1607 | chr2 | TogoVar | |||||||
CENPC_chr4_67463762_67550503 | 67470583 | A | AAAAAAAA others(6): Show |
3_prime_UTR_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0328 | 1 | 110 | 0.0091 | 13 | c.*20 others(24): Show |
CENPC | ENSG00000145241.11 | transcript | ENST00000273853.11 | protein_coding | 19/19 | 2021 | chr4 | TogoVar | ||||||
CENPH_chr5_69184583_69215357 | 69200719 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | NA18612.hp2 NA18959.hp1 NA19083.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 a0001c0001t0001g0179 a0001c0001t0001g0190 |
3 | 25 | 0.1200 | 13 | c.372 others(30): Show |
CENPH | ENSG00000153044.10 | transcript | ENST00000283006.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CENPJ_chr13_24877279_24927861 | 24882090 | A | ATAGATAT others(6): Show |
downstream_gene_variant | MODIFIER | NA18975.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0018 | 1 | 375 | 0.0027 | 13 | c.*10 others(24): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 188 | chr13 | TogoVar | |||||||
CENPK_chr5_65512766_65568168 | 65515204 | A | AATTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG03471.hp1 HG03540.hp2 HG03579.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 a0001c0001t0001g0126 a0001c0001t0001g0133 others(2): Show |
5 | 182 | 0.0275 | 13 | c.*32 others(24): Show |
CENPK | ENSG00000123219.13 | transcript | ENST00000396679.6 | protein_coding | 2561 | chr5 | TogoVar | |||||||
CENPK_chr5_65512766_65568168 | 65515204 | A | ATTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0239 | 1 | 178 | 0.0056 | 13 | c.*32 others(24): Show |
CENPK | ENSG00000123219.13 | transcript | ENST00000396679.6 | protein_coding | 2561 | chr5 | TogoVar | |||||||
CENPN_chr16_81002214_81036485 | 81005579 | C | CACTTATC others(6): Show |
upstream_gene_variant | MODIFIER | HG02818.hp1 HG02896.hp1 HG02897.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0016 | a0001c0002t0001g0130 a0001c0002t0016g0026 a0001c0002t0016g0077 |
4 | 396 | 0.0101 | 13 | c.-17 others(24): Show |
CENPN | ENSG00000166451.14 | transcript | ENST00000305850.10 | protein_coding | 1634 | chr16 | TogoVar | |||||||
CENPN_chr16_81002214_81036485 | 81005590 | G | GCGACTTA others(6): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(203): Show |
a0001a0002a0004others(4): Show | a0001c0002a0001c0003a0001c0010others(6): Show | a0001c0002t0001a0001c0002t0004a0001c0002t0005others(28): Show | a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0006 others(104): Show |
206 | 396 | 0.5202 | 13 | c.-16 others(24): Show |
CENPN | ENSG00000166451.14 | transcript | ENST00000305850.10 | protein_coding | 1623 | chr16 | TogoVar | |||||||
CENPO_chr2_24788425_24827376 | 24825334 | C | CGGCGGGG others(6): Show |
downstream_gene_variant | MODIFIER | NA18989.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0014 | 1 | 299 | 0.0033 | 13 | c.*60 others(24): Show |
CENPO | ENSG00000138092.11 | transcript | ENST00000380834.7 | protein_coding | 2959 | chr2 | TogoVar | |||||||
CENPP_chr9_92320953_92625529 | 92532015 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00673.hp2 NA18955.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0014a0001c0001t0017 | a0001c0001t0003g0167 a0001c0001t0014g0163 a0001c0001t0014g0165 others(1): Show |
4 | 142 | 0.0282 | 13 | c.565 others(32): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CENPQ_chr6_49458370_49498107 | 49487454 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02451.hp2 NA18948.hp2 NA18966.hp2 others(4): Show |
a0003 | a0003c0003 | a0003c0003t0002a0003c0003t0003a0003c0003t0006 | a0003c0003t0002g0052 a0003c0003t0003g0019 a0003c0003t0003g0020 others(2): Show |
7 | 127 | 0.0551 | 13 | c.478 others(28): Show |
CENPQ | ENSG00000031691.7 | transcript | ENST00000335783.4 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CEP104_chr1_3807086_3862211 | 3807471 | A | ATTTATTT others(6): Show |
downstream_gene_variant | MODIFIER | HG03834.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0206 | 1 | 380 | 0.0026 | 13 | c.*79 others(24): Show |
CEP104 | ENSG00000116198.14 | transcript | ENST00000378230.8 | protein_coding | 4614 | chr1 | TogoVar | |||||||
CEP104_chr1_3807086_3862211 | 3844698 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02559.hp1 NA18906.hp1 |
a0001a0006 | a0001c0006a0006c0008 | a0001c0006t0006a0006c0008t0015 | a0001c0006t0006g0127 a0006c0008t0015g0138 a0006c0008t0015g0139 |
3 | 256 | 0.0117 | 13 | c.566 others(28): Show |
CEP104 | ENSG00000116198.14 | transcript | ENST00000378230.8 | protein_coding | 6/21 | chr1 | TogoVar | |||||||
CEP104_chr1_3807086_3862211 | 3844707 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0063 | 1 | 226 | 0.0044 | 13 | c.566 others(28): Show |
CEP104 | ENSG00000116198.14 | transcript | ENST00000378230.8 | protein_coding | 6/21 | chr1 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 65640154 | A | ATATATTT others(6): Show |
intron_variant | MODIFIER | HG02723.hp1 HG06807.hp2 |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0001a0002c0001t0001 | a0001c0003t0001g0082 a0002c0001t0001g0031 |
2 | 29 | 0.0690 | 13 | c.279 others(30): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 25/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 65870065 | G | GAAAGAAA others(6): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02717.hp1 NA19056.hp2 |
a0002a0004 | a0002c0001a0004c0005 | a0002c0001t0001a0004c0005t0001 | a0002c0001t0001g0018 a0002c0001t0001g0056 a0004c0005t0001g0058 |
3 | 61 | 0.0492 | 13 | c.216 others(34): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 20/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 66195025 | A | AAAAAAAT others(6): Show |
upstream_gene_variant | MODIFIER | HG01258.hp2 HG03492.hp1 HG03688.hp2 |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0001a0002c0001t0001a0002c0001t0008 | a0001c0003t0001g0032 a0002c0001t0001g0025 a0002c0001t0008g0040 |
3 | 73 | 0.0411 | 13 | c.-30 others(24): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 2893 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 66195025 | A | AAAAATAT others(6): Show |
upstream_gene_variant | MODIFIER | HG01081.hp1 HG01884.hp1 |
a0001a0002 | a0001c0002a0002c0008 | a0001c0002t0001a0002c0008t0001 | a0001c0002t0001g0088 a0002c0008t0001g0030 |
2 | 72 | 0.0278 | 13 | c.-30 others(24): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 2893 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 66195025 | A | AAATATAT others(6): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 HG00735.hp2 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0037 a0002c0001t0001g0038 |
2 | 72 | 0.0278 | 13 | c.-30 others(24): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 2893 | chr17 | TogoVar | |||||||
CEP126_chr11_101910010_102006062 | 101938159 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0233 | 1 | 149 | 0.0067 | 13 | c.249 others(30): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 101938171 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0009 | a0001c0009t0055 | a0001c0009t0055g0303 | 1 | 334 | 0.0030 | 13 | c.249 others(30): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 101998592 | C | CAAAAAAA others(6): Show |
3_prime_UTR_variant | MODIFIER | HG03209.hp1 HG03486.hp1 NA18991.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0036a0001c0001t0054 | a0001c0001t0022g0152 a0001c0001t0022g0224 a0001c0001t0036g0302 others(1): Show |
4 | 28 | 0.1429 | 13 | c.*95 others(22): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 11/11 | 968 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |