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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CD6_chr11_60966680_61025377 | 60982123 | C | CGGTCTGT others(44): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 8 | 0.1250 | 51 | c.49+ others(68): Show |
CD6 | ENSG00000013725.14 | transcript | ENST00000313421.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CD6_chr11_60966680_61025377 | 60982123 | C | CGGTCTGT others(44): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(132): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0007a0001c0010others(15): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0009others(18): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0020 others(120): Show |
135 | 142 | 0.9507 | 51 | c.49+ others(68): Show |
CD6 | ENSG00000013725.14 | transcript | ENST00000313421.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CDC42BPA_chr1_226984865_227323492 | 227179635 | C | CAAAAAAA others(44): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0253 | 1 | 48 | 0.0208 | 51 | c.599 others(70): Show |
CDC42BPA | ENSG00000143776.20 | transcript | ENST00000366766.8 | protein_coding | 5/36 | chr1 | TogoVar | |||||||
CDC42BPB_chr14_102927380_103062549 | 102985024 | A | AACCATGA others(44): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0282 | 1 | 318 | 0.0031 | 51 | c.691 others(68): Show |
CDC42BPB | ENSG00000198752.11 | transcript | ENST00000361246.7 | protein_coding | 6/36 | chr14 | TogoVar | |||||||
CDC42BPB_chr14_102927380_103062549 | 102985129 | C | CGTGACAG others(44): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 318 | 0.0031 | 51 | c.690 others(68): Show |
CDC42BPB | ENSG00000198752.11 | transcript | ENST00000361246.7 | protein_coding | 6/36 | chr14 | TogoVar | |||||||
CDC42BPB_chr14_102927380_103062549 | 102985245 | G | GTGGAGGT others(44): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0009 | a0009c0017 | a0009c0017t0014 | a0009c0017t0014g0248 | 1 | 301 | 0.0033 | 51 | c.690 others(68): Show |
CDC42BPB | ENSG00000198752.11 | transcript | ENST00000361246.7 | protein_coding | 6/36 | chr14 | TogoVar | |||||||
CDC42BPB_chr14_102927380_103062549 | 102985245 | G | GTGGAGGT others(44): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02109.hp1 HG02258.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0021 | a0001c0001t0001a0001c0002t0001a0001c0021t0001 | a0001c0001t0001g0149 a0001c0002t0001g0062 a0001c0002t0001g0063 others(11): Show |
14 | 314 | 0.0446 | 51 | c.690 others(68): Show |
CDC42BPB | ENSG00000198752.11 | transcript | ENST00000361246.7 | protein_coding | 6/36 | chr14 | TogoVar | |||||||
CDC42BPB_chr14_102927380_103062549 | 102985321 | T | TTCTGGTT others(44): Show |
intron_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0002 | a0001c0002t0034 | a0001c0002t0034g0183 | 1 | 318 | 0.0031 | 51 | c.690 others(68): Show |
CDC42BPB | ENSG00000198752.11 | transcript | ENST00000361246.7 | protein_coding | 6/36 | chr14 | TogoVar | |||||||
CDCA7L_chr7_21895899_21950899 | 21900387 | G | GACTGAAT others(44): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(48): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(10): Show | a0001c0001t0003g0223 a0001c0001t0004g0006 a0001c0001t0004g0165 others(40): Show |
51 | 430 | 0.1186 | 51 | c.*18 others(62): Show |
CDCA7L | ENSG00000164649.20 | transcript | ENST00000406877.8 | protein_coding | 511 | chr7 | TogoVar | |||||||
CDCA7L_chr7_21895899_21950899 | 21900421 | A | ATCATTTC others(44): Show |
downstream_gene_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0110 | 1 | 430 | 0.0023 | 51 | c.*19 others(62): Show |
CDCA7L | ENSG00000164649.20 | transcript | ENST00000406877.8 | protein_coding | 477 | chr7 | TogoVar | |||||||
CDCA7_chr2_173349872_173373997 | 173372025 | G | GATTTTTA others(44): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG00733.hp1 HG01081.hp1 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0003g0003 others(10): Show |
39 | 253 | 0.1542 | 51 | c.*43 others(62): Show |
CDCA7 | ENSG00000144354.15 | transcript | ENST00000306721.8 | protein_coding | 3029 | chr2 | TogoVar | |||||||
CDH18_chr5_19466296_19993200 | 19593696 | T | TTCCTCCT others(44): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 132 | 0.0076 | 51 | c.812 others(68): Show |
CDH18 | ENSG00000145526.12 | transcript | ENST00000382275.6 | protein_coding | 6/12 | chr5 | TogoVar | |||||||
CDH18_chr5_19466296_19993200 | 19593707 | C | CCTCCTCC others(44): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0054 | 1 | 6 | 0.1667 | 51 | c.812 others(68): Show |
CDH18 | ENSG00000145526.12 | transcript | ENST00000382275.6 | protein_coding | 6/12 | chr5 | TogoVar | |||||||
CDH18_chr5_19466296_19993200 | 19593707 | C | CCTCCTCC others(44): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0013 | 1 | 6 | 0.1667 | 51 | c.812 others(68): Show |
CDH18 | ENSG00000145526.12 | transcript | ENST00000382275.6 | protein_coding | 6/12 | chr5 | TogoVar | |||||||
CDH4_chr20_61247261_61945617 | 61723863 | C | CGGCTCCA others(44): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02145.hp1 HG02148.hp2 others(20): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0015a0001c0001t0017others(16): Show | a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0031 others(20): Show |
23 | 103 | 0.2233 | 51 | c.170 others(70): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CDH4_chr20_61247261_61945617 | 61723863 | C | CGGCTCCA others(44): Show |
intron_variant | MODIFIER | HG02895.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0027 | a0001c0001t0001g0006 a0001c0001t0027g0019 |
2 | 82 | 0.0244 | 51 | c.170 others(70): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CDH4_chr20_61247261_61945617 | 61723936 | A | AGGTCCCC others(44): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00639.hp2 others(28): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0006others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(22): Show | a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0049 others(28): Show |
31 | 71 | 0.4366 | 51 | c.170 others(70): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CDH4_chr20_61247261_61945617 | 61723936 | A | AGGTCCCT others(44): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01884.hp1 HG01884.hp2 others(5): Show |
a0001a0002a0003 | a0001c0001a0001c0007a0002c0004others(1): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0016others(4): Show | a0001c0001t0002g0007 a0001c0001t0008g0021 a0001c0001t0016g0064 others(5): Show |
8 | 48 | 0.1667 | 51 | c.170 others(70): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CDH4_chr20_61247261_61945617 | 61723938 | G | ATCCCCAT others(44): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0003 | a0001c0003t0034 | a0001c0003t0034g0023 | 1 | 106 | 0.0094 | 51 | c.170 others(70): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | chr20 | TogoVar | |||||||
CDH4_chr20_61247261_61945617 | 61724132 | G | GGGGTAGG others(44): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02723.hp1 HG02895.hp1 others(4): Show |
a0001 | a0001c0001a0001c0006a0001c0007 | a0001c0001t0001a0001c0001t0017a0001c0001t0027others(3): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0017g0030 others(4): Show |
7 | 106 | 0.0660 | 51 | c.170 others(70): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CDIN1_chr15_36574626_36815244 | 36703219 | A | AATATATA others(44): Show |
intron_variant | MODIFIER | HG01109.hp2 HG04115.hp2 NA20752.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0004a0002c0002t0020 | a0001c0001t0004g0139 a0002c0002t0004g0176 a0002c0002t0020g0178 |
3 | 69 | 0.0435 | 51 | c.544 others(68): Show |
CDIN1 | ENSG00000186073.14 | transcript | ENST00000566621.6 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CDIN1_chr15_36574626_36815244 | 36703219 | A | AATATATA others(44): Show |
intron_variant | MODIFIER | HG01074.hp2 HG02071.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0127 a0002c0002t0002g0049 |
2 | 68 | 0.0294 | 51 | c.544 others(68): Show |
CDIN1 | ENSG00000186073.14 | transcript | ENST00000566621.6 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CDIN1_chr15_36574626_36815244 | 36703219 | A | AATATATA others(44): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 67 | 0.0149 | 51 | c.544 others(68): Show |
CDIN1 | ENSG00000186073.14 | transcript | ENST00000566621.6 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CDKN2A_chr9_21962752_21979857 | 21971575 | A | ATTTTTTT others(44): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 67 | 0.0149 | 51 | c.151 others(66): Show |
CDKN2A | ENSG00000147889.18 | transcript | ENST00000304494.10 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
CDKN2A_chr9_21962752_21999392 | 21971575 | A | ATTTTTTT others(44): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 62 | 0.0161 | 51 | c.194 others(66): Show |
CDKN2A | ENSG00000147889.18 | transcript | ENST00000579755.2 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
CELF2_chr10_11012872_11341675 | 11107864 | A | ACCATCTC others(44): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0162 | 1 | 76 | 0.0132 | 51 | c.75- others(68): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CELF2_chr10_11012872_11341675 | 11108050 | A | ACCTCTCC others(44): Show |
intron_variant | MODIFIER | HG02897.hp1 HG02922.hp2 HG02970.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0001t0005a0001c0001t0016others(3): Show | a0001c0001t0003g0007 a0001c0001t0005g0006 a0001c0001t0016g0004 others(3): Show |
6 | 125 | 0.0480 | 51 | c.75- others(68): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CELF2_chr10_11012872_11341675 | 11197025 | A | AAGGAAGG others(44): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01074.hp2 HG01175.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0032others(6): Show | a0001c0001t0001g0177 a0001c0001t0002g0172 a0001c0001t0032g0075 others(7): Show |
10 | 17 | 0.5882 | 51 | c.272 others(70): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CELF2_chr10_11012872_11341675 | 11197025 | A | AAGGAAGG others(44): Show |
intron_variant | MODIFIER | HG01433.hp2 HG01891.hp2 HG02258.hp1 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0002t0013a0001c0003t0001 | a0001c0001t0003g0149 a0001c0002t0013g0050 a0001c0003t0001g0046 |
3 | 10 | 0.3000 | 51 | c.272 others(70): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CELF2_chr10_11012872_11341675 | 11284292 | T | TGTGGTGG others(44): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(57): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(24): Show | a0001c0001t0001g0086 a0001c0001t0001g0092 a0001c0001t0001g0097 others(57): Show |
60 | 173 | 0.3468 | 51 | c.842 others(68): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 8/12 | chr10 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46502375 | A | AAAGGGGA others(44): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG01081.hp2 others(13): Show |
a0001a0003a0007others(7): Show | a0001c0001a0001c0025a0001c0028others(10): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0016others(12): Show | a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0012g0034 others(13): Show |
16 | 102 | 0.1569 | 51 | c.354 others(72): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46502382 | A | AGGGAAGG others(44): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00621.hp2 HG00642.hp2 others(25): Show |
a0001a0002a0004others(15): Show | a0001c0001a0001c0004a0001c0006others(22): Show | a0001c0001t0001a0001c0004t0001a0001c0006t0001others(22): Show | a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0087 others(25): Show |
28 | 100 | 0.2800 | 51 | c.354 others(72): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80729058 | G | GTGTGTGT others(44): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0124 | 1 | 46 | 0.0217 | 51 | c.280 others(72): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | |||||||
CEP170B_chr14_104860268_104901747 | 104884588 | G | GGGGGGGT others(44): Show |
intron_variant | MODIFIER | HG02129.hp2 HG02257.hp2 HG02451.hp1 others(6): Show |
a0001a0032 | a0001c0002a0001c0020a0001c0032others(4): Show | a0001c0002t0002a0001c0020t0002a0001c0032t0024others(4): Show | a0001c0002t0002g0032 a0001c0020t0002g0031 a0001c0020t0002g0152 others(6): Show |
9 | 325 | 0.0277 | 51 | c.177 others(68): Show |
CEP170B | ENSG00000099814.17 | transcript | ENST00000414716.8 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CEP170B_chr14_104860268_104901747 | 104884653 | G | GATGCCGG others(44): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01069.hp2 HG01071.hp2 others(2): Show |
a0001 | a0001c0017a0001c0019 | a0001c0017t0002a0001c0019t0002 | a0001c0017t0002g0165 a0001c0017t0002g0166 a0001c0019t0002g0159 others(2): Show |
5 | 325 | 0.0154 | 51 | c.177 others(68): Show |
CEP170B | ENSG00000099814.17 | transcript | ENST00000414716.8 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CEP170B_chr14_104860268_104901747 | 104884703 | T | TGATGCCG others(44): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 213 | 0.0047 | 51 | c.177 others(68): Show |
CEP170B | ENSG00000099814.17 | transcript | ENST00000414716.8 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CEP170B_chr14_104860268_104901747 | 104884793 | G | GGGGGGGT others(44): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01069.hp2 HG01071.hp2 others(11): Show |
a0001a0003a0032 | a0001c0017a0001c0019a0001c0020others(5): Show | a0001c0017t0002a0001c0019t0002a0001c0020t0002others(5): Show | a0001c0017t0002g0162 a0001c0017t0002g0165 a0001c0017t0002g0166 others(11): Show |
14 | 321 | 0.0436 | 51 | c.177 others(68): Show |
CEP170B | ENSG00000099814.17 | transcript | ENST00000414716.8 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CEP295NL_chr17_78885579_78908201 | 78904108 | T | TGTGTGTG others(44): Show |
upstream_gene_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0035 | 1 | 423 | 0.0024 | 51 | c.-10 others(62): Show |
CEP295NL | ENSG00000178404.11 | transcript | ENST00000322630.3 | protein_coding | 908 | chr17 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118600300 | G | GGGGGGGG others(44): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0010 | 1 | 117 | 0.0085 | 51 | c.232 others(70): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118600324 | T | TGTGTGTG others(44): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0004 | a0004c0004 | a0004c0004t0006 | a0004c0004t0006g0041 | 1 | 297 | 0.0034 | 51 | c.232 others(70): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
CERS3_chr15_100395395_100533950 | 100466812 | C | CCTCTCCC others(44): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0262 | 1 | 149 | 0.0067 | 51 | c.845 others(68): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 10/11 | chr15 | TogoVar | |||||||
CERS3_chr15_100395395_100533950 | 100466825 | C | CTCTTTCT others(44): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0292 | 1 | 358 | 0.0028 | 51 | c.845 others(68): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 10/11 | chr15 | TogoVar | |||||||
CERS5_chr12_50124289_50172369 | 50156437 | T | TATATATA others(44): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0047 | 1 | 274 | 0.0036 | 51 | c.197 others(70): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 1/9 | chr12 | TogoVar | |||||||
CES5A_chr16_55841154_55880373 | 55847274 | C | CCTTCCCT others(44): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01496.hp2 HG01928.hp1 others(2): Show |
a0002a0004a0006 | a0002c0005a0004c0006a0006c0007 | a0002c0005t0001a0004c0006t0001a0004c0006t0005others(1): Show | a0002c0005t0001g0259 a0004c0006t0001g0379 a0004c0006t0001g0381 others(2): Show |
5 | 448 | 0.0112 | 51 | c.142 others(68): Show |
CES5A | ENSG00000159398.16 | transcript | ENST00000290567.14 | protein_coding | 11/12 | chr16 | TogoVar | |||||||
CFAP299_chr4_80330730_80968750 | 80800167 | A | ATATAATA others(44): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG00639.hp1 others(17): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(17): Show |
20 | 90 | 0.2222 | 51 | c.334 others(70): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132820852 | C | CTGTGTGC others(44): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0052 | a0052c0037 | a0052c0037t0001 | a0052c0037t0001g0230 | 1 | 244 | 0.0041 | 51 | c.711 others(70): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132851825 | A | GCAGATCC others(44): Show |
intron_variant | MODIFIER | HG01257.hp2 HG02280.hp2 HG02630.hp1 |
a0012a0048 | a0012c0025a0048c0069 | a0012c0025t0002a0048c0069t0002 | a0012c0025t0002g0007 a0012c0025t0002g0014 a0048c0069t0002g0015 |
3 | 79 | 0.0380 | 51 | c.557 others(64): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 39/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132851922 | A | AATTCTCA others(44): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0054 | a0054c0105 | a0054c0105t0001 | a0054c0105t0001g0239 | 1 | 243 | 0.0041 | 51 | c.557 others(68): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 39/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132852020 | T | TAGACATT others(44): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0041 | a0041c0077 | a0041c0077t0001 | a0041c0077t0001g0127 | 1 | 244 | 0.0041 | 51 | c.557 others(68): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 39/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132852024 | C | CATTCTCA others(44): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00597.hp2 others(59): Show |
a0002a0003a0004others(10): Show | a0002c0002a0002c0003a0002c0023others(18): Show | a0002c0002t0001a0002c0003t0001a0002c0023t0001others(19): Show | a0002c0002t0001g0126 a0002c0002t0001g0134 a0002c0002t0001g0137 others(58): Show |
62 | 235 | 0.2638 | 51 | c.557 others(68): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 39/57 | chr10 | TogoVar |