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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CDYL_chr6_4771404_4960544 | 4819162 | C | CTCTCTCT others(21): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0240 | 1 | 250 | 0.0040 | 28 | c.24+ others(45): Show |
CDYL | ENSG00000153046.18 | transcript | ENST00000397588.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDYL_chr6_4771404_4960544 | 4900779 | G | GTGTGTGT others(21): Show |
intron_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 250 | 0.0040 | 28 | c.691 others(45): Show |
CDYL | ENSG00000153046.18 | transcript | ENST00000397588.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDYL_chr6_4771404_4960544 | 4900779 | G | GTGTGTGT others(21): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0246 | 1 | 250 | 0.0040 | 28 | c.691 others(45): Show |
CDYL | ENSG00000153046.18 | transcript | ENST00000397588.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEACAM1_chr19_42502306_42533481 | 42513915 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0178 | 1 | 290 | 0.0035 | 28 | c.124 others(47): Show |
CEACAM1 | ENSG00000079385.23 | transcript | ENST00000161559.11 | protein_coding | 5/8 | chr19 | TogoVar | ||||||
CEACAM20_chr19_44501159_44534675 | 44518079 | G | GAAGAAAG others(21): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02809.hp1 others(4): Show |
a0001a0006 | a0001c0001a0001c0013a0006c0010 | a0001c0001t0001a0001c0013t0001a0006c0010t0001 | a0001c0001t0001g0136a0001c0001t0001g0159a0001c0001t0001g0213others(2): Show | 7 | 438 | 0.0160 | 28 | c.103 others(45): Show |
CEACAM20 | ENSG00000273777.6 | transcript | ENST00000614924.5 | protein_coding | 5/11 | chr19 | TogoVar | ||||||
CEACAM20_chr19_44501159_44534675 | 44518103 | A | AAAGAAAG others(21): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 438 | 0.0023 | 28 | c.103 others(45): Show |
CEACAM20 | ENSG00000273777.6 | transcript | ENST00000614924.5 | protein_coding | 5/11 | chr19 | TogoVar | ||||||
CEACAM8_chr19_42575243_42599924 | 42581920 | A | AAAAAATA others(21): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 314 | 0.0032 | 28 | c.*41 others(43): Show |
CEACAM8 | ENSG00000124469.12 | transcript | ENST00000244336.10 | protein_coding | 5/5 | chr19 | TogoVar | ||||||
CEACAM8_chr19_42575243_42599924 | 42581920 | A | AATATATA others(21): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 314 | 0.0032 | 28 | c.*41 others(43): Show |
CEACAM8 | ENSG00000124469.12 | transcript | ENST00000244336.10 | protein_coding | 5/5 | chr19 | TogoVar | ||||||
CECR2_chr22_17364460_17563151 | 17504046 | C | CTAAATAA others(21): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0011 | a0011c0015 | a0011c0015t0051 | a0011c0015t0051g0275 | 1 | 324 | 0.0031 | 28 | c.701 others(43): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CECR2_chr22_17364460_17563151 | 17524387 | C | CTTTTTTT others(21): Show |
intron_variant | MODIFIER | HG01168.hp2 HG03139.hp1 |
a0003a0004 | a0003c0003a0004c0004 | a0003c0003t0007a0004c0004t0033 | a0003c0003t0007g0154a0004c0004t0033g0282 | 2 | 324 | 0.0062 | 28 | c.110 others(45): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CELF2_chr10_11012872_11341675 | 11197025 | A | AAAAGAAA others(21): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01346.hp1 HG01981.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0015others(2): Show | a0001c0001t0001g0114a0001c0002t0001g0146a0001c0002t0001g0158others(3): Show | 6 | 194 | 0.0309 | 28 | c.272 others(47): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CELF3_chr1_151695058_151721803 | 151696498 | T | TTTCTTTC others(21): Show |
downstream_gene_variant | MODIFIER | NA18950.hp2 NA19001.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0018 | a0001c0001t0001g0002a0001c0001t0018g0036 | 2 | 432 | 0.0046 | 28 | c.*69 others(39): Show |
CELF3 | ENSG00000159409.15 | transcript | ENST00000290583.9 | protein_coding | 3559 | chr1 | TogoVar | ||||||
CELF3_chr1_151695058_151721803 | 151696498 | T | TTTCTTTC others(21): Show |
downstream_gene_variant | MODIFIER | HG01081.hp2 NA18960.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 2 | 432 | 0.0046 | 28 | c.*69 others(39): Show |
CELF3 | ENSG00000159409.15 | transcript | ENST00000290583.9 | protein_coding | 3559 | chr1 | TogoVar | ||||||
CELF5_chr19_3219661_3302076 | 3299578 | T | TTCTTCTT others(21): Show |
downstream_gene_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0126 | 1 | 262 | 0.0038 | 28 | c.*28 others(39): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 2503 | chr19 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46365956 | A | AAAGGTGG others(21): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0057 | 1 | 104 | 0.0096 | 28 | c.830 others(45): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | TogoVar | ||||||
CEL_chr9_133056981_133076861 | 133059866 | T | TCCTTTGA others(21): Show |
upstream_gene_variant | MODIFIER | HG04199.hp1 | a0056 | a0056c0180 | a0056c0180t0001 | a0056c0180t0001g0087 | 1 | 416 | 0.0024 | 28 | c.-21 others(39): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 2114 | chr9 | TogoVar | ||||||
CEMIP2_chr9_71678366_71773513 | 71728235 | A | ATATACGT others(21): Show |
intron_variant | MODIFIER | HG01975.hp2 HG02004.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143a0001c0001t0001g0144 | 2 | 320 | 0.0063 | 28 | c.204 others(47): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 10/23 | chr9 | TogoVar | ||||||
CEMIP2_chr9_71678366_71773513 | 71728265 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG01243.hp2 others(4): Show |
a0001a0004a0009 | a0001c0001a0004c0003a0009c0016 | a0001c0001t0002a0001c0001t0005a0004c0003t0001others(3): Show | a0001c0001t0002g0211a0001c0001t0005g0140a0004c0003t0001g0186others(4): Show | 7 | 320 | 0.0219 | 28 | c.204 others(47): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 10/23 | chr9 | TogoVar | ||||||
CEMIP2_chr9_71678366_71773513 | 71728289 | A | ACGTATAT others(21): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 320 | 0.0031 | 28 | c.204 others(47): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 10/23 | chr9 | TogoVar | ||||||
CEMIP2_chr9_71678366_71773513 | 71756191 | C | CTAGATAG others(21): Show |
intron_variant | MODIFIER | HG01943.hp1 HG01993.hp1 HG02896.hp2 others(3): Show |
a0002a0007 | a0002c0002a0007c0010 | a0002c0002t0001a0007c0010t0028 | a0002c0002t0001g0044a0002c0002t0001g0056a0002c0002t0001g0057others(3): Show | 6 | 320 | 0.0188 | 28 | c.-12 others(45): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 1/23 | chr9 | TogoVar | ||||||
CEMIP_chr15_80774370_80956771 | 80832322 | C | CTGTGTGT others(21): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 254 | 0.0039 | 28 | c.-17 others(49): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CEMIP_chr15_80774370_80956771 | 80900638 | G | GTGTGTGT others(21): Show |
intron_variant | MODIFIER | NA18971.hp2 NA18973.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0203a0001c0001t0002g0220 | 2 | 254 | 0.0079 | 28 | c.141 others(47): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 12/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CENPA_chr2_26781056_26799589 | 26784448 | C | CTTTTTTT others(21): Show |
upstream_gene_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 382 | 0.0026 | 28 | c.-17 others(39): Show |
CENPA | ENSG00000115163.15 | transcript | ENST00000335756.9 | protein_coding | 1607 | chr2 | TogoVar | ||||||
CENPB_chr20_3778851_3791740 | 3788142 | A | AAAAGAAA others(21): Show |
upstream_gene_variant | MODIFIER | HG02486.hp1 HG02559.hp1 HG03579.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0000a0001c0001t0012g0000 | 4 | 410 | 0.0098 | 28 | c.-16 others(39): Show |
CENPB | ENSG00000125817.8 | transcript | ENST00000379751.5 | protein_coding | 1403 | chr20 | TogoVar | ||||||
CENPE_chr4_103100811_103203343 | 103112688 | A | ATATATAA others(21): Show |
intron_variant | MODIFIER | HG02055.hp2 HG03139.hp1 HG03225.hp2 others(2): Show |
a0001a0016 | a0001c0004a0016c0018 | a0001c0004t0001a0016c0018t0001 | a0001c0004t0001g0294a0001c0004t0001g0302a0001c0004t0001g0304others(2): Show | 5 | 320 | 0.0156 | 28 | c.754 others(47): Show |
CENPE | ENSG00000138778.14 | transcript | ENST00000265148.9 | protein_coding | 46/48 | chr4 | TogoVar | ||||||
CENPE_chr4_103100811_103203343 | 103112688 | A | ATATATAA others(21): Show |
intron_variant | MODIFIER | HG02976.hp2 HG03017.hp2 HG03209.hp2 |
a0001a0002 | a0001c0004a0002c0002 | a0001c0004t0001a0002c0002t0001 | a0001c0004t0001g0083a0001c0004t0001g0085a0002c0002t0001g0062 | 3 | 320 | 0.0094 | 28 | c.754 others(47): Show |
CENPE | ENSG00000138778.14 | transcript | ENST00000265148.9 | protein_coding | 46/48 | chr4 | TogoVar | ||||||
CENPE_chr4_103100811_103203343 | 103132960 | T | TTATATAT others(21): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00741.hp2 HG01099.hp2 others(14): Show |
a0001a0002a0003others(2): Show | a0001c0004a0002c0002a0003c0003others(2): Show | a0001c0004t0001a0002c0002t0001a0003c0003t0001others(2): Show | a0001c0004t0001g0074a0002c0002t0001g0019a0002c0002t0001g0025others(14): Show | 17 | 320 | 0.0531 | 28 | c.672 others(43): Show |
CENPE | ENSG00000138778.14 | transcript | ENST00000265148.9 | protein_coding | 41/48 | chr4 | TogoVar | ||||||
CENPJ_chr13_24877279_24927861 | 24881948 | A | ATACATCT others(21): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0011 | 1 | 440 | 0.0023 | 28 | c.*12 others(39): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 330 | chr13 | TogoVar | ||||||
CENPJ_chr13_24877279_24927861 | 24882002 | A | ATATAGAT others(21): Show |
downstream_gene_variant | MODIFIER | HG04228.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0003 | 1 | 440 | 0.0023 | 28 | c.*11 others(39): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 276 | chr13 | TogoVar | ||||||
CENPJ_chr13_24877279_24927861 | 24882024 | A | ATATAGAT others(21): Show |
downstream_gene_variant | MODIFIER | HG01106.hp2 NA18991.hp1 NA19000.hp2 |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0089a0002c0003t0003g0110a0002c0003t0003g0130 | 3 | 440 | 0.0068 | 28 | c.*11 others(39): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 254 | chr13 | TogoVar | ||||||
CENPJ_chr13_24877279_24927861 | 24882028 | A | ATATATAG others(21): Show |
downstream_gene_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0176 | 1 | 440 | 0.0023 | 28 | c.*11 others(39): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 250 | chr13 | TogoVar | ||||||
CENPJ_chr13_24877279_24927861 | 24882050 | A | ATATATAG others(21): Show |
downstream_gene_variant | MODIFIER | HG00673.hp1 NA18951.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0020a0001c0002t0001g0178 | 2 | 440 | 0.0046 | 28 | c.*11 others(39): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 228 | chr13 | TogoVar | ||||||
CENPJ_chr13_24877279_24927861 | 24882213 | G | GATATATA others(21): Show |
downstream_gene_variant | MODIFIER | HG01123.hp2 HG03130.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0216a0001c0001t0006g0052 | 3 | 440 | 0.0068 | 28 | c.*96 others(37): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 65 | chr13 | TogoVar | ||||||
CENPK_chr5_65512766_65568168 | 65533350 | A | AAAATAAA others(21): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02083.hp1 NA19060.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0159a0001c0001t0001g0206a0001c0001t0001g0225others(1): Show | 4 | 374 | 0.0107 | 28 | c.289 others(45): Show |
CENPK | ENSG00000123219.13 | transcript | ENST00000396679.6 | protein_coding | 6/10 | chr5 | TogoVar | ||||||
CENPO_chr2_24788425_24827376 | 24817466 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG03453.hp1 HG03540.hp2 NA18954.hp2 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0020a0002c0002t0008 | a0001c0003t0020g0264a0002c0002t0008g0058a0002c0002t0008g0066 | 3 | 382 | 0.0079 | 28 | c.767 others(43): Show |
CENPO | ENSG00000138092.11 | transcript | ENST00000380834.7 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CENPP_chr9_92320953_92625529 | 92352503 | G | GTATACAT others(21): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0165 | 1 | 260 | 0.0039 | 28 | c.467 others(45): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CENPP_chr9_92320953_92625529 | 92352505 | G | GTGTGTGT others(21): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01515.hp1 HG02615.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0008 | a0001c0001t0001g0137a0001c0001t0001g0149a0001c0001t0006g0227others(1): Show | 4 | 260 | 0.0154 | 28 | c.467 others(45): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CENPP_chr9_92320953_92625529 | 92352505 | G | GTGTGTGT others(21): Show |
intron_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0168 | 1 | 260 | 0.0039 | 28 | c.467 others(45): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CENPP_chr9_92320953_92625529 | 92352505 | G | GTGTGTGT others(21): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0173 | 1 | 260 | 0.0039 | 28 | c.467 others(45): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CENPP_chr9_92320953_92625529 | 92352505 | G | GTGTGTGT others(21): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0181 | 1 | 260 | 0.0039 | 28 | c.467 others(45): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CENPP_chr9_92320953_92625529 | 92352510 | C | CATATATA others(21): Show |
intron_variant | MODIFIER | HG02080.hp2 HG02615.hp2 HG03688.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0041 | a0001c0001t0001g0238a0001c0001t0001g0243a0001c0001t0001g0252others(4): Show | 7 | 260 | 0.0269 | 28 | c.467 others(45): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CEP112_chr17_65630537_66197133 | 65660177 | C | CTCCTTCC others(21): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02451.hp1 |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0002a0002c0001t0003 | a0001c0003t0002g0109a0002c0001t0003g0019 | 2 | 112 | 0.0179 | 28 | c.269 others(49): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 24/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65749760 | A | ACATTAGA others(21): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00642.hp1 others(37): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0002c0001others(2): Show | a0001c0002t0001a0001c0003t0001a0002c0001t0001others(5): Show | a0001c0002t0001g0014a0001c0002t0001g0021a0001c0002t0001g0034others(37): Show | 40 | 112 | 0.3571 | 28 | c.245 others(45): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 22/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65971415 | A | AGCAAATA others(21): Show |
intron_variant | MODIFIER | HG02257.hp2 HG03579.hp2 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0007 | a0001c0003t0001g0007a0001c0003t0007g0004 | 2 | 112 | 0.0179 | 28 | c.173 others(47): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 17/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65971415 | A | AGCACATA others(21): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01346.hp2 HG02027.hp2 others(9): Show |
a0001a0002a0004others(1): Show | a0001c0003a0002c0001a0004c0006others(1): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0006others(4): Show | a0001c0003t0001g0006a0001c0003t0001g0009a0001c0003t0001g0033others(9): Show | 12 | 112 | 0.1071 | 28 | c.173 others(47): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 17/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65971415 | A | AGCACATA others(21): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00642.hp2 others(38): Show |
a0001a0003 | a0001c0002a0003c0005 | a0001c0002t0001a0003c0005t0001 | a0001c0002t0001g0011a0001c0002t0001g0014a0001c0002t0001g0020others(38): Show | 41 | 112 | 0.3661 | 28 | c.173 others(47): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 17/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 66034972 | G | GTGTGTGT others(21): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0070 | 1 | 112 | 0.0089 | 28 | c.121 others(47): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 12/26 | chr17 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 101938159 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01257.hp1 HG01258.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(4): Show | a0001c0001t0002g0228a0001c0001t0002g0246a0001c0001t0002g0249others(7): Show | 11 | 336 | 0.0327 | 28 | c.249 others(45): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CEP126_chr11_101910010_102006062 | 102003186 | G | GTATATAT others(21): Show |
downstream_gene_variant | MODIFIER | HG03669.hp1 NA18998.hp1 NA19065.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0003 | a0001c0001t0001g0063a0002c0003t0003g0022a0002c0003t0003g0126 | 3 | 336 | 0.0089 | 28 | c.*55 others(39): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2125 | chr11 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80811818 | T | TTAGATAG others(21): Show |
intron_variant | MODIFIER | HG02886.hp1 NA18942.hp2 NA21309.hp2 |
a0003a0010a0012 | a0003c0003a0010c0017a0012c0020 | a0003c0003t0002a0010c0017t0001a0012c0020t0004 | a0003c0003t0002g0125a0010c0017t0001g0007a0012c0020t0004g0163 | 3 | 164 | 0.0183 | 28 | c.121 others(49): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 13/24 | chr14 | TogoVar |