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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CELF2_chr10_11012872_11341675 | 11086578 | T | TAAAAAAA others(4): Show |
intron_variant | MODIFIER | NA19030.hp2 NA20129.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0044 | a0001c0002t0002g0049a0001c0003t0044g0194 | 2 | 194 | 0.0103 | 11 | c.74+ others(28): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CELF2_chr10_11012872_11341675 | 11119864 | T | TCTCCCCC others(4): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02615.hp2 HG04199.hp2 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0033a0001c0004t0001a0001c0004t0027 | a0001c0002t0033g0001a0001c0004t0001g0152a0001c0004t0027g0066 | 3 | 194 | 0.0155 | 11 | c.75- others(28): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CELF2_chr10_11012872_11341675 | 11151031 | A | ATAAATAA others(4): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01081.hp2 HG02109.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0022a0001c0001t0032others(4): Show | a0001c0001t0001g0123a0001c0001t0022g0017a0001c0001t0032g0075others(4): Show | 7 | 194 | 0.0361 | 11 | c.75- others(28): 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(4): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02486.hp1 HG02698.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0003a0001c0001t0022a0001c0002t0023others(1): Show | a0001c0001t0003g0038a0001c0001t0022g0022a0001c0002t0023g0053others(1): Show | 4 | 194 | 0.0206 | 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 | a0001c0001t0001a0001c0004t0013 | a0001c0001t0001g0180a0001c0004t0013g0074 | 2 | 194 | 0.0103 | 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 | a0001c0001t0036g0016a0001c0002t0002g0052 | 2 | 194 | 0.0103 | 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 | a0001c0001t0006g0117a0001c0002t0033g0001a0001c0009t0006g0125 | 3 | 194 | 0.0155 | 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 | 432 | 0.0023 | 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 | 184 | 0.0054 | 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 | a0001c0001t0002g0142a0001c0002t0013g0013 | 2 | 184 | 0.0109 | 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 | 184 | 0.0054 | 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 | 262 | 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 | 262 | 0.0038 | 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 | a0001c0001t0002g0029a0001c0001t0002g0150a0001c0001t0002g0151others(4): Show | 8 | 300 | 0.0267 | 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 | a0001c0001t0001g0101 | 1 | 300 | 0.0033 | 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 |
a0003a0019a0037others(1): Show | a0003c0005a0019c0041a0037c0008others(1): Show | a0003c0005t0002a0019c0041t0010a0037c0008t0001others(1): Show | a0003c0005t0002g0036a0019c0041t0010g0068a0037c0008t0001g0005others(1): Show | 4 | 104 | 0.0385 | 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 |
a0019a0034 | a0019c0014a0034c0053 | a0019c0014t0001a0034c0053t0001 | a0019c0014t0001g0017a0019c0014t0001g0052a0034c0053t0001g0017 | 4 | 416 | 0.0096 | 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 | a0001c0001t0002g0211 | 1 | 320 | 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 | 254 | 0.0039 | 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 | 254 | 0.0039 | 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(214): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0006 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(6): Show | a0001c0001t0001g0000a0001c0001t0004g0000a0001c0001t0006g0000others(6): Show | 217 | 348 | 0.6236 | 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 | 348 | 0.0086 | 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 | a0001c0001t0001g0010a0001c0001t0001g0014 | 3 | 382 | 0.0079 | 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 | 410 | 0.0122 | 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(199): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0012a0003c0003others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(21): Show | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0079others(194): Show | 202 | 338 | 0.5976 | 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 | a0001c0001t0001g0192 | 1 | 338 | 0.0030 | 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 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(95): Show | 101 | 388 | 0.2603 | 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 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0016others(90): Show | 99 | 374 | 0.2647 | 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(24): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0240a0001c0001t0004g0241a0001c0001t0004g0243others(24): Show | 27 | 374 | 0.0722 | 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 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0002a0001c0001t0007a0003c0004t0002 | a0001c0001t0002g0012a0001c0001t0002g0013a0001c0001t0002g0014others(62): Show | 69 | 374 | 0.1845 | 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 | a0001c0002t0001g0086a0001c0002t0001g0087a0001c0002t0001g0088others(1): Show | 4 | 398 | 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 | a0001c0001t0004g0225a0001c0001t0004g0226 | 2 | 382 | 0.0052 | 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 | a0001c0001t0001g0092 | 1 | 260 | 0.0039 | 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 | a0001c0001t0003g0139a0001c0001t0003g0157a0001c0001t0003g0159others(6): Show | 9 | 260 | 0.0346 | 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 | a0001c0001t0010g0075a0001c0001t0010g0146a0001c0001t0010g0147others(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 | 260 | 0.0039 | 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(179): Show |
a0001a0003a0008others(1): Show | a0001c0001a0001c0009a0003c0003others(2): Show | a0001c0001t0001a0001c0009t0001a0003c0003t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0007others(51): Show | 182 | 356 | 0.5112 | 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 | 356 | 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 | a0002c0002t0001g0043 | 1 | 356 | 0.0028 | 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 | 402 | 0.0025 | 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 | 382 | 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 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0022 | 1 | 112 | 0.0089 | 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 | a0002c0001t0001g0044a0002c0001t0001g0100 | 2 | 112 | 0.0179 | 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 | a0002c0001t0001g0067 | 1 | 112 | 0.0089 | 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 |
a0001a0002a0004others(1): Show | a0001c0003a0002c0001a0004c0006others(1): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0006others(5): Show | a0001c0003t0001g0006a0001c0003t0001g0007a0001c0003t0001g0009others(11): Show | 14 | 112 | 0.1250 | 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 | a0002c0001t0001g0068a0002c0004t0001g0029 | 2 | 112 | 0.0179 | 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 | a0001c0002t0001g0070 | 1 | 112 | 0.0089 | 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 | a0001c0002t0001g0085a0002c0007t0001g0108 | 2 | 112 | 0.0179 | 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 | a0001c0006t0002g0006a0001c0006t0002g0207a0001c0011t0002g0203 | 5 | 376 | 0.0133 | 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 | a0002c0003t0003g0012a0002c0003t0003g0039a0002c0003t0003g0076others(3): Show | 6 | 336 | 0.0179 | 11 | c.248 others(28): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |