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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CDNF_chr10_14814245_14843037 | 14826095 | A | AAGAAGAA others(8): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 325 | 0.0031 | 15 | c.244 others(30): Show |
CDNF | ENSG00000185267.10 | transcript | ENST00000465530.2 | protein_coding | 2/3 | chr10 | TogoVar | |||||||
CDNF_chr10_14814245_14843037 | 14826461 | A | AAAGAAGC others(8): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00733.hp1 HG01255.hp2 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(28): Show |
34 | 415 | 0.0819 | 15 | c.244 others(30): Show |
CDNF | ENSG00000185267.10 | transcript | ENST00000465530.2 | protein_coding | 2/3 | chr10 | TogoVar | |||||||
CDON_chr11_125951821_126067866 | 125973018 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00673.hp1 others(13): Show |
a0001a0002a0005 | a0001c0004a0001c0065a0002c0002others(1): Show | a0001c0004t0003a0001c0004t0022a0001c0004t0063others(6): Show | a0001c0004t0003g0049 a0001c0004t0003g0069 a0001c0004t0022g0110 others(13): Show |
16 | 44 | 0.3636 | 15 | c.335 others(34): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 18/19 | chr11 | TogoVar | |||||||
CDR2L_chr17_74982632_75010800 | 74983010 | T | TTTATGTT others(8): Show |
upstream_gene_variant | MODIFIER | NA18948.hp1 NA18948.hp2 NA19087.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0004 a0001c0001t0001g0159 a0001c0001t0001g0225 others(1): Show |
4 | 161 | 0.0248 | 15 | c.-50 others(26): Show |
CDR2L | ENSG00000109089.7 | transcript | ENST00000337231.5 | protein_coding | 4621 | chr17 | TogoVar | |||||||
CDRT4_chr17_15431015_15472621 | 15435748 | C | CAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 HG02280.hp1 HG02486.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0003a0003c0003t0012 | a0001c0001t0001g0119 a0001c0001t0003g0012 a0001c0001t0003g0106 others(3): Show |
6 | 11 | 0.5455 | 15 | c.*20 others(26): Show |
CDRT4 | ENSG00000239704.12 | transcript | ENST00000619038.5 | protein_coding | 266 | chr17 | TogoVar | |||||||
CDS1_chr4_84578127_84656334 | 84635022 | T | TAATATTT others(8): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(281): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 others(264): Show |
284 | 382 | 0.7435 | 15 | c.723 others(30): Show |
CDS1 | ENSG00000163624.6 | transcript | ENST00000295887.6 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CDS2_chr20_5122008_5202887 | 5145822 | G | GGTTTTTT others(8): Show |
intron_variant | MODIFIER | NA18981.hp1 NA19003.hp2 |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0048 | a0001c0002t0004g0216 a0001c0002t0048g0238 |
2 | 166 | 0.0120 | 15 | c.57+ others(32): Show |
CDS2 | ENSG00000101290.14 | transcript | ENST00000460006.6 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
CDV3_chr3_133568686_133595261 | 133576841 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00609.hp2 HG01256.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0010 | a0001c0001t0001g0048 a0001c0001t0001g0145 a0001c0001t0001g0146 others(3): Show |
9 | 102 | 0.0882 | 15 | c.317 others(32): Show |
CDV3 | ENSG00000091527.17 | transcript | ENST00000264993.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CDV3_chr3_133568686_133595261 | 133594433 | T | TAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG01081.hp1 HG01346.hp2 HG01952.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0016 | a0001c0001t0001g0087 a0001c0001t0003g0005 a0001c0001t0003g0011 others(1): Show |
6 | 15 | 0.4000 | 15 | c.*63 others(26): Show |
CDV3 | ENSG00000091527.17 | transcript | ENST00000264993.8 | protein_coding | 4173 | chr3 | TogoVar | |||||||
CDV3_chr3_133568686_133595261 | 133594444 | A | AAAAAAAC others(8): Show |
downstream_gene_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 384 | 0.0026 | 15 | c.*63 others(26): Show |
CDV3 | ENSG00000091527.17 | transcript | ENST00000264993.8 | protein_coding | 4184 | chr3 | TogoVar | |||||||
CDYL2_chr16_80592907_80809598 | 80672535 | A | AAAAGGAA others(8): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01358.hp2 HG01884.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0017others(8): Show | a0001c0001t0001g0023 a0001c0001t0001g0051 a0001c0001t0001g0185 others(13): Show |
16 | 88 | 0.1818 | 15 | c.616 others(34): Show |
CDYL2 | ENSG00000166446.15 | transcript | ENST00000570137.7 | protein_coding | 2/6 | chr16 | TogoVar | |||||||
CDYL_chr6_4771404_4960544 | 4788480 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02559.hp1 NA18971.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0181 a0001c0002t0002g0245 |
2 | 56 | 0.0357 | 15 | c.24+ others(32): Show |
CDYL | ENSG00000153046.18 | transcript | ENST00000397588.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDYL_chr6_4771404_4960544 | 4807591 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0009 | a0001c0009t0002 | a0001c0009t0002g0115 | 1 | 2 | 0.5000 | 15 | c.24+ others(32): Show |
CDYL | ENSG00000153046.18 | transcript | ENST00000397588.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDYL_chr6_4771404_4960544 | 4852806 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0153 | 1 | 229 | 0.0044 | 15 | c.25- others(32): Show |
CDYL | ENSG00000153046.18 | transcript | ENST00000397588.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDYL_chr6_4771404_4960544 | 4959971 | C | CAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG03942.hp1 HG04184.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0094 a0001c0001t0002g0097 |
2 | 21 | 0.0952 | 15 | c.*59 others(26): Show |
CDYL | ENSG00000153046.18 | transcript | ENST00000397588.8 | protein_coding | 4428 | chr6 | TogoVar | |||||||
CEACAM20_chr19_44501159_44534675 | 44515218 | A | AATGATGA others(8): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 149 | 0.0067 | 15 | c.130 others(34): Show |
CEACAM20 | ENSG00000273777.6 | transcript | ENST00000614924.5 | protein_coding | 6/11 | chr19 | TogoVar | |||||||
CEACAM5_chr19_41703626_41735433 | 41713307 | A | AAAAAGAA others(8): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0012 | a0012c0014 | a0012c0014t0004 | a0012c0014t0004g0121 | 1 | 372 | 0.0027 | 15 | c.425 others(32): Show |
CEACAM5 | ENSG00000105388.17 | transcript | ENST00000221992.11 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CEACAM5_chr19_41703626_41735433 | 41728786 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0013 | a0013c0016 | a0013c0016t0012 | a0013c0016t0012g0110 | 1 | 200 | 0.0050 | 15 | c.*37 others(30): Show |
CEACAM5 | ENSG00000105388.17 | transcript | ENST00000221992.11 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CEACAM6_chr19_41750530_41777211 | 41769602 | A | ATTTGGTG others(8): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0009 | a0009c0013 | a0009c0013t0012 | a0009c0013t0012g0174 | 1 | 424 | 0.0024 | 15 | c.*41 others(32): Show |
CEACAM6 | ENSG00000086548.9 | transcript | ENST00000199764.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CEACAM8_chr19_42575243_42599924 | 42581920 | A | AAATATAT others(8): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 64 | 0.0156 | 15 | c.*41 others(30): Show |
CEACAM8 | ENSG00000124469.12 | transcript | ENST00000244336.10 | protein_coding | 5/5 | chr19 | TogoVar | |||||||
CEBPZOS_chr2_37191496_37209743 | 37193597 | A | AAAGAAGA others(8): Show |
upstream_gene_variant | MODIFIER | HG00735.hp2 HG01069.hp2 HG01106.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(7): Show |
18 | 71 | 0.2535 | 15 | c.-29 others(26): Show |
CEBPZOS | ENSG00000218739.10 | transcript | ENST00000402297.6 | protein_coding | 2898 | chr2 | TogoVar | |||||||
CECR2_chr22_17364460_17563151 | 17404364 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01167.hp2 HG01255.hp1 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0002a0001c0001t0008a0002c0002t0007others(1): Show | a0001c0001t0002g0157 a0001c0001t0008g0257 a0002c0002t0007g0306 others(1): Show |
4 | 217 | 0.0184 | 15 | c.126 others(34): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CECR2_chr22_17364460_17563151 | 17447033 | C | CTGTTTTT others(8): Show |
intron_variant | MODIFIER | HG02056.hp2 HG03579.hp1 NA19012.hp2 |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0002a0002c0002t0001a0004c0004t0003 | a0001c0001t0002g0027 a0002c0002t0001g0206 a0004c0004t0003g0144 |
3 | 153 | 0.0196 | 15 | c.127 others(34): 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(8): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0149 | 1 | 36 | 0.0278 | 15 | c.221 others(32): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CECR2_chr22_17364460_17563151 | 17552774 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG00741.hp2 others(31): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0075 a0001c0001t0001g0266 a0001c0001t0001g0280 others(31): Show |
34 | 152 | 0.2237 | 15 | c.439 others(30): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CELA3B_chr1_21972022_21994354 | 21981262 | G | GTAGGACG others(8): Show |
intron_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 442 | 0.0023 | 15 | c.362 others(28): Show |
CELA3B | ENSG00000219073.8 | transcript | ENST00000337107.11 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CELF1_chr11_47460937_47558132 | 47489935 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01433.hp2 HG01943.hp2 HG02293.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0021 | a0001c0001t0002g0076 a0001c0001t0002g0219 a0001c0001t0002g0273 others(4): Show |
7 | 74 | 0.0946 | 15 | c.72- others(28): Show |
CELF1 | ENSG00000149187.19 | transcript | ENST00000687097.1 | protein_coding | 3/14 | chr11 | TogoVar | |||||||
CELF2_chr10_11012872_11341675 | 11032146 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0008a0001c0002t0001others(5): Show | a0001c0001t0001g0092 a0001c0001t0001g0168 a0001c0001t0008g0186 others(10): Show |
13 | 52 | 0.2500 | 15 | c.74+ others(32): 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(8): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00621.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(10): Show | a0001c0001t0001g0079 a0001c0001t0001g0108 a0001c0001t0001g0188 others(19): Show |
22 | 24 | 0.9167 | 15 | c.539 others(32): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CELF2_chr10_11012872_11341675 | 11323424 | A | AAATAATA others(8): Show |
intron_variant | MODIFIER | NA18975.hp2 NA19010.hp2 NA19086.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0108 a0001c0001t0001g0161 a0001c0005t0001g0163 |
3 | 45 | 0.0667 | 15 | c.129 others(34): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CELF5_chr19_3219661_3302076 | 3226476 | A | ACACACAC others(8): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0211 | 1 | 249 | 0.0040 | 15 | c.259 others(32): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 1/12 | chr19 | TogoVar | |||||||
CELF5_chr19_3219661_3302076 | 3256064 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02970.hp1 HG03486.hp2 |
a0001 | a0001c0003a0001c0010 | a0001c0003t0002a0001c0010t0005 | a0001c0003t0002g0248 a0001c0010t0005g0252 |
2 | 167 | 0.0120 | 15 | c.342 others(32): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CELF5_chr19_3219661_3302076 | 3289681 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02630.hp1 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0253 a0001c0001t0002g0254 |
2 | 58 | 0.0345 | 15 | c.118 others(32): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CELF5_chr19_3219661_3302076 | 3299515 | C | CTCCTCTT others(8): Show |
downstream_gene_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0013 | 1 | 60 | 0.0167 | 15 | c.*27 others(26): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 2440 | chr19 | TogoVar | |||||||
CELF5_chr19_3219661_3302076 | 3299515 | C | CTCTTCTT others(8): Show |
downstream_gene_variant | MODIFIER | HG00738.hp1 HG01169.hp2 HG02165.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0006 a0001c0001t0001g0024 a0001c0001t0001g0090 others(14): Show |
17 | 76 | 0.2237 | 15 | c.*27 others(26): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 2440 | chr19 | TogoVar | |||||||
CELF5_chr19_3219661_3302076 | 3299563 | T | TTCTTCTT others(8): Show |
downstream_gene_variant | MODIFIER | HG02486.hp2 HG02630.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0145 a0001c0001t0002g0253 |
2 | 254 | 0.0079 | 15 | c.*28 others(26): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 2488 | chr19 | TogoVar | |||||||
CELF6_chr15_72279727_72325157 | 72314589 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02809.hp2 HG02976.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0003a0001c0001t0005a0002c0006t0005 | a0001c0001t0003g0199 a0001c0001t0005g0030 a0002c0006t0005g0163 |
4 | 197 | 0.0203 | 15 | c.345 others(32): Show |
CELF6 | ENSG00000140488.16 | transcript | ENST00000287202.10 | protein_coding | 2/12 | chr15 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46426129 | T | TGGGGAGG others(8): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02615.hp1 HG02818.hp1 |
a0004a0020a0021 | a0004c0051a0020c0010a0021c0036 | a0004c0051t0001a0020c0010t0001a0021c0036t0006 | a0004c0051t0001g0031 a0020c0010t0001g0007 a0021c0036t0006g0002 |
3 | 79 | 0.0380 | 15 | c.461 others(34): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46466969 | A | AAACAAAG others(8): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0044 | 1 | 102 | 0.0098 | 15 | c.354 others(34): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46467971 | G | GGTTGCTA others(8): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0042 | a0042c0056 | a0042c0056t0001 | a0042c0056t0001g0093 | 1 | 102 | 0.0098 | 15 | c.354 others(34): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
CELSR3_chr3_48631463_48667886 | 48654617 | C | CAAAGGGG others(8): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02486.hp1 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0039 |
3 | 204 | 0.0147 | 15 | c.498 others(32): Show |
CELSR3 | ENSG00000008300.17 | transcript | ENST00000164024.5 | protein_coding | 6/34 | chr3 | TogoVar | |||||||
CEL_chr9_133056981_133076861 | 133064177 | T | TCTAAGAT others(8): Show |
intron_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0071 | 1 | 414 | 0.0024 | 15 | c.67- others(28): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CEMIP2_chr9_71678366_71773513 | 71692923 | G | GACAACAA others(8): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG00735.hp2 others(94): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0009a0001c0013others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(44): Show | a0001c0001t0001g0102 a0001c0001t0001g0159 a0001c0001t0001g0287 others(94): Show |
97 | 126 | 0.7698 | 15 | c.369 others(34): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 21/23 | chr9 | TogoVar | |||||||
CEMIP2_chr9_71678366_71773513 | 71714366 | G | GTGATGAT others(8): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01167.hp1 HG01169.hp2 others(20): Show |
a0005a0006a0008 | a0005c0004a0006c0033a0008c0011 | a0005c0004t0001a0005c0004t0008a0005c0004t0011others(8): Show | a0005c0004t0001g0231 a0005c0004t0008g0128 a0005c0004t0011g0005 others(20): Show |
23 | 31 | 0.7419 | 15 | c.259 others(32): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 15/23 | chr9 | TogoVar | |||||||
CEMIP2_chr9_71678366_71773513 | 71732686 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0006 | a0006c0006 | a0006c0006t0024 | a0006c0006t0024g0288 | 1 | 21 | 0.0476 | 15 | c.139 others(32): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 6/23 | chr9 | TogoVar | |||||||
CEMIP2_chr9_71678366_71773513 | 71755381 | A | ACACACAC others(8): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0005 | a0005c0004 | a0005c0004t0011 | a0005c0004t0011g0005 | 1 | 315 | 0.0032 | 15 | c.-12 others(32): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 1/23 | chr9 | TogoVar | |||||||
CEMIP_chr15_80774370_80956771 | 80839289 | A | ATGTGTGT others(8): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0246 | 1 | 9 | 0.1111 | 15 | c.-17 others(36): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 1/29 | chr15 | TogoVar | |||||||
CEMIP_chr15_80774370_80956771 | 80900591 | T | TGTGTGTG others(8): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0122 | 1 | 250 | 0.0040 | 15 | c.141 others(34): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 12/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CEMIP_chr15_80774370_80956771 | 80955502 | A | AAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG06807.hp1 NA18522.hp1 |
a0001 | a0001c0019a0001c0028 | a0001c0019t0021a0001c0028t0017 | a0001c0019t0021g0094 a0001c0028t0017g0134 |
2 | 252 | 0.0079 | 15 | c.*65 others(26): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 3732 | chr15 | TogoVar | |||||||
CEMP1_chr16_2525035_2536408 | 2533430 | A | ATTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG00621.hp1 HG00639.hp2 HG01071.hp2 others(18): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0000 a0003c0005t0001g0000 |
21 | 33 | 0.6364 | 15 | c.-23 others(26): Show |
CEMP1 | ENSG00000205923.3 | transcript | ENST00000567119.1 | protein_coding | 2023 | chr16 | TogoVar |