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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CELF2_chr10_11012872_11341675 | 11262940 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02486.hp1 HG02698.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0003a0001c0001t0021a0001c0002t0022others(1): Show | a0001c0001t0003g0038 a0001c0001t0021g0022 a0001c0002t0022g0053 others(1): Show |
4 | 6 | 0.6667 | 11 | c.539 others(28): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CELF2_chr10_11012872_11341675 | 11284580 | A | ATGGATGG others(4): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02602.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0012 | a0001c0001t0001g0180 a0001c0004t0012g0074 |
2 | 191 | 0.0105 | 11 | c.842 others(28): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CELF2_chr10_11012872_11341675 | 11301364 | A | ACCCCGCT others(4): Show |
intron_variant | MODIFIER | HG03471.hp1 HG03471.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0036a0001c0002t0002 | a0001c0001t0036g0016 a0001c0002t0002g0052 |
2 | 191 | 0.0105 | 11 | c.977 others(30): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CELF2_chr10_11012872_11341675 | 11301369 | G | GCTTCCCC others(4): Show |
intron_variant | MODIFIER | HG02698.hp1 HG02735.hp2 HG04199.hp2 |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0006a0001c0002t0033a0001c0009t0006 | a0001c0001t0006g0117 a0001c0002t0033g0001 a0001c0009t0006g0125 |
3 | 192 | 0.0156 | 11 | c.977 others(30): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CELF3_chr1_151695058_151721803 | 151696498 | T | TTTCTTTC others(4): Show |
downstream_gene_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0103 | 1 | 296 | 0.0034 | 11 | c.*69 others(22): Show |
CELF3 | ENSG00000159409.15 | transcript | ENST00000290583.9 | protein_coding | 3559 | chr1 | TogoVar | |||||||
CELF4_chr18_37238040_37570798 | 37353233 | A | AAAAAAAT others(4): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 56 | 0.0179 | 11 | c.370 others(30): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 2/12 | chr18 | TogoVar | |||||||
CELF4_chr18_37238040_37570798 | 37353233 | A | AAAAATAT others(4): Show |
intron_variant | MODIFIER | HG02148.hp2 NA18983.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0013 | a0001c0001t0002g0142 a0001c0002t0013g0013 |
2 | 57 | 0.0351 | 11 | c.370 others(30): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 2/12 | chr18 | TogoVar | |||||||
CELF4_chr18_37238040_37570798 | 37379507 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0122 | 1 | 16 | 0.0625 | 11 | c.370 others(30): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 2/12 | chr18 | TogoVar | |||||||
CELF5_chr19_3219661_3302076 | 3219933 | T | TTTGTTTT others(4): Show |
upstream_gene_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 260 | 0.0038 | 11 | c.-48 others(22): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 4727 | chr19 | TogoVar | |||||||
CELF5_chr19_3219661_3302076 | 3299661 | T | TCCTTCCC others(4): Show |
downstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0009 | 1 | 259 | 0.0039 | 11 | c.*29 others(22): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 2586 | chr19 | TogoVar | |||||||
CELF6_chr15_72279727_72325157 | 72314602 | T | TTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01496.hp1 HG02572.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0029 a0001c0001t0002g0151 a0001c0001t0002g0152 others(4): Show |
8 | 296 | 0.0270 | 11 | c.345 others(28): Show |
CELF6 | ENSG00000140488.16 | transcript | ENST00000287202.10 | protein_coding | 2/12 | chr15 | TogoVar | |||||||
CELF6_chr15_72279727_72325157 | 72325075 | A | AGATCTTT others(4): Show |
upstream_gene_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 128 | 0.0078 | 11 | c.-52 others(22): Show |
CELF6 | ENSG00000140488.16 | transcript | ENST00000287202.10 | protein_coding | 4919 | chr15 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46416108 | G | GGGGGGGG others(4): Show |
intron_variant | MODIFIER | HG00735.hp2 HG06807.hp2 NA18906.hp2 others(1): Show |
a0002a0011a0037others(1): Show | a0002c0005a0011c0008a0037c0040others(1): Show | a0002c0005t0002a0011c0008t0001a0037c0040t0010others(1): Show | a0002c0005t0002g0036 a0011c0008t0001g0005 a0037c0040t0010g0068 others(1): Show |
4 | 93 | 0.0430 | 11 | c.461 others(30): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | TogoVar | |||||||
CEL_chr9_133056981_133076861 | 133075333 | A | AAAAAAAA others(4): Show |
downstream_gene_variant | MODIFIER | HG02895.hp1 HG03195.hp1 HG03471.hp2 others(1): Show |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0017 a0004c0005t0001g0052 |
4 | 413 | 0.0097 | 11 | c.*35 others(22): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 3473 | chr9 | TogoVar | |||||||
CEMIP2_chr9_71678366_71773513 | 71692918 | C | CGACAACA others(4): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0210 | 1 | 318 | 0.0031 | 11 | c.369 others(30): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 21/23 | chr9 | TogoVar | |||||||
CEMIP_chr15_80774370_80956771 | 80839331 | T | TGTGTGTG others(4): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0029 | a0001c0029t0001 | a0001c0029t0001g0111 | 1 | 250 | 0.0040 | 11 | c.-17 others(32): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 1/29 | chr15 | TogoVar | |||||||
CEMIP_chr15_80774370_80956771 | 80900585 | G | GGGTGTGT others(4): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0164 | 1 | 133 | 0.0075 | 11 | c.141 others(30): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 12/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CEMP1_chr16_2525035_2536408 | 2533275 | C | CTTTTTTT others(4): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(213): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(5): Show | a0001c0001t0001g0000 a0001c0001t0004g0000 a0001c0001t0006g0000 others(5): Show |
216 | 228 | 0.9474 | 11 | c.-22 others(22): Show |
CEMP1 | ENSG00000205923.3 | transcript | ENST00000567119.1 | protein_coding | 1868 | chr16 | TogoVar | |||||||
CEMP1_chr16_2525035_2536408 | 2533430 | A | ATTTTTTT others(4): Show |
upstream_gene_variant | MODIFIER | HG03130.hp1 NA18993.hp1 NA19067.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 15 | 0.2000 | 11 | c.-23 others(22): Show |
CEMP1 | ENSG00000205923.3 | transcript | ENST00000567119.1 | protein_coding | 2023 | chr16 | TogoVar | |||||||
CENPA_chr2_26781056_26799589 | 26784448 | C | CTTTTTTT others(4): Show |
upstream_gene_variant | MODIFIER | HG02895.hp2 NA20129.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0014 |
3 | 112 | 0.0268 | 11 | c.-17 others(22): Show |
CENPA | ENSG00000115163.15 | transcript | ENST00000335756.9 | protein_coding | 1607 | chr2 | TogoVar | |||||||
CENPB_chr20_3778851_3791740 | 3786622 | G | GGGGCGAC others(4): Show |
5_prime_UTR_variant | MODIFIER | HG00639.hp1 HG02735.hp2 HG03239.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0000 | 5 | 408 | 0.0123 | 11 | c.-15 others(20): Show |
CENPB | ENSG00000125817.8 | transcript | ENST00000379751.5 | protein_coding | 1/1 | 140 | chr20 | TogoVar | ||||||
CENPC_chr4_67463762_67550503 | 67470583 | A | AAAAAAAA others(4): Show |
3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(198): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0012a0003c0003others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(21): Show | a0001c0001t0001g0015 a0001c0001t0001g0079 a0001c0001t0001g0098 others(193): Show |
201 | 310 | 0.6484 | 11 | c.*20 others(22): Show |
CENPC | ENSG00000145241.11 | transcript | ENST00000273853.11 | protein_coding | 19/19 | 2021 | chr4 | TogoVar | ||||||
CENPC_chr4_67463762_67550503 | 67491511 | A | AGAGAGAG others(4): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 230 | 0.0043 | 11 | c.251 others(28): Show |
CENPC | ENSG00000145241.11 | transcript | ENST00000273853.11 | protein_coding | 16/18 | chr4 | TogoVar | |||||||
CENPH_chr5_69184583_69215357 | 69204022 | T | TATATAAA others(4): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(98): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0005a0001c0005t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(65): Show |
101 | 246 | 0.4106 | 11 | c.487 others(28): Show |
CENPH | ENSG00000153044.10 | transcript | ENST00000283006.7 | protein_coding | 7/8 | chr5 | TogoVar | |||||||
CENPK_chr5_65512766_65568168 | 65515204 | A | AATTTTTT others(4): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(96): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(4): Show | a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0012 others(82): Show |
99 | 276 | 0.3587 | 11 | c.*32 others(22): Show |
CENPK | ENSG00000123219.13 | transcript | ENST00000396679.6 | protein_coding | 2561 | chr5 | TogoVar | |||||||
CENPK_chr5_65512766_65568168 | 65515204 | A | ATTTTTTT others(4): Show |
downstream_gene_variant | MODIFIER | HG00741.hp2 HG01256.hp1 HG01952.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0017 a0001c0001t0004g0040 a0001c0001t0004g0224 others(22): Show |
26 | 203 | 0.1281 | 11 | c.*32 others(22): Show |
CENPK | ENSG00000123219.13 | transcript | ENST00000396679.6 | protein_coding | 2561 | chr5 | TogoVar | |||||||
CENPK_chr5_65512766_65568168 | 65553436 | C | CTGGCCCA others(4): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(66): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0001c0001t0007a0002c0004t0002 | a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 others(60): Show |
69 | 372 | 0.1855 | 11 | c.112 others(26): Show |
CENPK | ENSG00000123219.13 | transcript | ENST00000396679.6 | protein_coding | 3/10 | chr5 | TogoVar | |||||||
CENPN_chr16_81002214_81036485 | 81014766 | G | GGCTTTGT others(4): Show |
intron_variant | MODIFIER | HG02027.hp2 NA18961.hp1 NA18961.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 others(1): Show |
4 | 396 | 0.0101 | 11 | c.217 others(26): Show |
CENPN | ENSG00000166451.14 | transcript | ENST00000305850.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CENPO_chr2_24788425_24827376 | 24811282 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02965.hp2 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0224 a0001c0001t0004g0225 |
2 | 56 | 0.0357 | 11 | c.217 others(28): Show |
CENPO | ENSG00000138092.11 | transcript | ENST00000380834.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CENPP_chr9_92320953_92625529 | 92325926 | T | TTGAAGCG others(4): Show |
upstream_gene_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 260 | 0.0038 | 11 | c.-73 others(18): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 26 | chr9 | TogoVar | |||||||
CENPP_chr9_92320953_92625529 | 92532015 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00642.hp2 HG02300.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008a0001c0001t0032 | a0001c0001t0003g0139 a0001c0001t0003g0157 a0001c0001t0003g0159 others(6): Show |
9 | 147 | 0.0612 | 11 | c.565 others(30): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CENPP_chr9_92320953_92625529 | 92532016 | T | TTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02717.hp1 HG02895.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0076 a0001c0001t0010g0146 a0001c0001t0010g0147 others(1): Show |
4 | 260 | 0.0154 | 11 | c.565 others(30): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CENPP_chr9_92320953_92625529 | 92533324 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0226 | 1 | 215 | 0.0047 | 11 | c.565 others(30): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | chr9 | TogoVar | |||||||
CENPV_chr17_16337537_16358469 | 16339984 | C | CCTTTTTT others(4): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00438.hp1 others(178): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0006a0003c0003others(2): Show | a0001c0001t0001a0001c0006t0001a0003c0003t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(51): Show |
181 | 354 | 0.5113 | 11 | c.*28 others(22): Show |
CENPV | ENSG00000166582.11 | transcript | ENST00000299736.5 | protein_coding | 2552 | chr17 | TogoVar | |||||||
CENPV_chr17_16337537_16358469 | 16340594 | A | ACCACAAG others(4): Show |
downstream_gene_variant | MODIFIER | NA18968.hp2 NA19064.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0005 | 2 | 354 | 0.0056 | 11 | c.*22 others(22): Show |
CENPV | ENSG00000166582.11 | transcript | ENST00000299736.5 | protein_coding | 1942 | chr17 | TogoVar | |||||||
CENPV_chr17_16337537_16358469 | 16354766 | G | GCCCCCCC others(4): Show |
upstream_gene_variant | MODIFIER | HG01175.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0041 | 1 | 95 | 0.0105 | 11 | c.-13 others(22): Show |
CENPV | ENSG00000166582.11 | transcript | ENST00000299736.5 | protein_coding | 1298 | chr17 | TogoVar | |||||||
CENPX_chr17_82013703_82027878 | 82026564 | T | TGTGTGTG others(4): Show |
upstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 150 | 0.0067 | 11 | c.-37 others(22): Show |
CENPX | ENSG00000169689.15 | transcript | ENST00000392359.8 | protein_coding | 3687 | chr17 | TogoVar | |||||||
CEP104_chr1_3807086_3862211 | 3807472 | T | TTTATTTA others(4): Show |
downstream_gene_variant | MODIFIER | NA18965.hp2 | a0003 | a0003c0004 | a0003c0004t0017 | a0003c0004t0017g0167 | 1 | 380 | 0.0026 | 11 | c.*79 others(22): Show |
CEP104 | ENSG00000116198.14 | transcript | ENST00000378230.8 | protein_coding | 4613 | chr1 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 65640154 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0022 | 1 | 28 | 0.0357 | 11 | c.279 others(28): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 25/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 65679129 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG03831.hp1 HG06807.hp1 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0044 a0002c0001t0001g0101 |
2 | 6 | 0.3333 | 11 | c.269 others(30): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 24/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 65870014 | T | TAAGAAGA others(4): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0070 | 1 | 65 | 0.0154 | 11 | c.216 others(32): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 20/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 65970763 | G | GTTACATG others(4): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01346.hp2 HG02027.hp2 others(11): Show |
a0001a0002a0003others(1): Show | a0001c0003a0002c0001a0003c0006others(1): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0006others(5): Show | a0001c0003t0001g0005 a0001c0003t0001g0006 a0001c0003t0001g0009 others(11): Show |
14 | 110 | 0.1273 | 11 | c.173 others(30): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 17/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 66038110 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02965.hp2 HG02976.hp1 |
a0002 | a0002c0001a0002c0004 | a0002c0001t0001a0002c0004t0001 | a0002c0001t0001g0077 a0002c0004t0001g0026 |
2 | 62 | 0.0323 | 11 | c.121 others(30): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 12/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 66092356 | A | ACACACAC others(4): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0066 | 1 | 4 | 0.2500 | 11 | c.768 others(28): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 8/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 66195025 | A | AAATATAT others(4): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 HG03041.hp2 |
a0001a0002 | a0001c0002a0002c0007 | a0001c0002t0001a0002c0007t0001 | a0001c0002t0001g0085 a0002c0007t0001g0108 |
2 | 72 | 0.0278 | 11 | c.-30 others(22): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 2893 | chr17 | TogoVar | |||||||
CEP120_chr5_123339892_123428403 | 123414971 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG02451.hp1 others(2): Show |
a0001 | a0001c0006a0001c0011 | a0001c0006t0002a0001c0011t0002 | a0001c0006t0002g0006 a0001c0006t0002g0207 a0001c0011t0002g0203 |
5 | 58 | 0.0862 | 11 | c.321 others(28): Show |
CEP120 | ENSG00000168944.17 | transcript | ENST00000306467.10 | protein_coding | 3/19 | chr5 | TogoVar | |||||||
CEP126_chr11_101910010_102006062 | 101929974 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01106.hp1 HG02074.hp1 others(3): Show |
a0002 | a0002c0003 | a0002c0003t0003a0002c0003t0007a0002c0003t0029 | a0002c0003t0003g0013 a0002c0003t0003g0120 a0002c0003t0003g0129 others(3): Show |
6 | 207 | 0.0290 | 11 | c.248 others(28): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 101938159 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01516.hp2 HG03195.hp1 HG04184.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0023a0001c0001t0028others(1): Show | a0001c0001t0004g0235 a0001c0001t0023g0236 a0001c0001t0028g0170 others(1): Show |
4 | 152 | 0.0263 | 11 | c.249 others(28): 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(4): Show |
3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(169): Show |
a0001a0003a0005others(3): Show | a0001c0001a0001c0002a0001c0009others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(29): Show | a0001c0001t0001g0005 a0001c0001t0001g0043 a0001c0001t0001g0050 others(166): Show |
172 | 196 | 0.8776 | 11 | c.*95 others(20): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 11/11 | 968 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CEP128_chr14_80491479_80946738 | 80563524 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0130 | 1 | 53 | 0.0189 | 11 | c.285 others(30): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 20/24 | chr14 | TogoVar |