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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DNM1_chr9_128198379_128260244 | 128220726 | A | AGCGCGCG others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00735.hp2 HG02698.hp1 others(3): Show |
a0001a0002 | a0001c0002a0002c0006 | a0001c0002t0001a0002c0006t0001 | a0001c0002t0001g0053 a0001c0002t0001g0060 a0001c0002t0001g0099 others(3): Show |
6 | 350 | 0.0171 | 8 | c.849 others(23): Show |
DNM1 | ENSG00000106976.22 | transcript | ENST00000372923.8 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DNM1_chr9_128198379_128260244 | 128220738 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01168.hp1 HG01169.hp2 others(30): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0001c0011others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0011t0001others(3): Show | a0001c0001t0001g0195 a0001c0001t0001g0221 a0001c0001t0001g0248 others(30): Show |
33 | 350 | 0.0943 | 8 | c.849 others(23): Show |
DNM1 | ENSG00000106976.22 | transcript | ENST00000372923.8 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DNM1_chr9_128198379_128260244 | 128220740 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00673.hp2 HG01074.hp1 others(21): Show |
a0001a0002a0004 | a0001c0001a0001c0008a0002c0005others(1): Show | a0001c0001t0001a0001c0008t0001a0002c0005t0001others(1): Show | a0001c0001t0001g0036 a0001c0001t0001g0093 a0001c0001t0001g0104 others(20): Show |
24 | 350 | 0.0686 | 8 | c.849 others(23): Show |
DNM1 | ENSG00000106976.22 | transcript | ENST00000372923.8 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DNM1_chr9_128198379_128260244 | 128220742 | C | CGCGCGCG others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01074.hp2 HG01168.hp2 others(15): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0016 a0001c0002t0001g0059 a0001c0002t0001g0118 others(15): Show |
18 | 350 | 0.0514 | 8 | c.849 others(23): Show |
DNM1 | ENSG00000106976.22 | transcript | ENST00000372923.8 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DNM1_chr9_128198379_128260244 | 128220742 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG03704.hp2 NA18940.hp2 NA19004.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 a0001c0001t0001g0235 a0001c0001t0001g0263 others(1): Show |
4 | 350 | 0.0114 | 8 | c.849 others(23): Show |
DNM1 | ENSG00000106976.22 | transcript | ENST00000372923.8 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DNM1_chr9_128198379_128260244 | 128220885 | T | TTTTCTTT others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00558.hp2 HG00738.hp1 others(69): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(5): Show | a0001c0001t0001g0011 a0001c0001t0001g0036 a0001c0001t0001g0074 others(69): Show |
72 | 350 | 0.2057 | 8 | c.849 others(23): Show |
DNM1 | ENSG00000106976.22 | transcript | ENST00000372923.8 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DNM1_chr9_128198379_128260244 | 128230413 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01256.hp2 HG01496.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0014 | a0001c0001t0001a0001c0003t0001a0001c0003t0004others(1): Show | a0001c0001t0001g0036 a0001c0003t0001g0198 a0001c0003t0001g0327 others(4): Show |
7 | 350 | 0.0200 | 8 | c.133 others(27): Show |
DNM1 | ENSG00000106976.22 | transcript | ENST00000372923.8 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DNM1_chr9_128198379_128260244 | 128239567 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01496.hp1 HG03453.hp1 |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0003t0001a0001c0004t0001 | a0001c0001t0001g0278 a0001c0003t0001g0327 a0001c0004t0001g0062 |
3 | 350 | 0.0086 | 8 | c.149 others(24): Show |
DNM1 | ENSG00000106976.22 | transcript | ENST00000372923.8 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DNM2_chr19_10713079_10836903 | 10778019 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00639.hp1 HG00741.hp1 others(43): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0027 others(43): Show |
46 | 278 | 0.1655 | 8 | c.688 others(23): Show |
DNM2 | ENSG00000079805.19 | transcript | ENST00000389253.9 | protein_coding | 5/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
DNM2_chr19_10713079_10836903 | 10779502 | C | CTTTCTTT others(1): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01358.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0039 a0001c0002t0002g0005 a0001c0002t0002g0012 others(6): Show |
9 | 278 | 0.0324 | 8 | c.688 others(25): Show |
DNM2 | ENSG00000079805.19 | transcript | ENST00000389253.9 | protein_coding | 5/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
DNM2_chr19_10713079_10836903 | 10790293 | T | TTTTGTTT others(1): Show |
intron_variant | MODIFIER | HG02698.hp1 HG02809.hp2 HG02896.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0275 others(2): Show |
5 | 278 | 0.0180 | 8 | c.993 others(25): Show |
DNM2 | ENSG00000079805.19 | transcript | ENST00000389253.9 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
DNM2_chr19_10713079_10836903 | 10794344 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01981.hp2 HG02280.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0002 | a0001c0001t0005g0021 a0001c0002t0002g0009 a0001c0002t0002g0048 others(3): Show |
6 | 278 | 0.0216 | 8 | c.112 others(25): Show |
DNM2 | ENSG00000079805.19 | transcript | ENST00000389253.9 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
DNM3_chr1_171836498_172417717 | 171847896 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01516.hp1 HG01517.hp1 HG03704.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0004a0001c0001t0006a0001c0001t0014others(2): Show | a0001c0001t0004g0003 a0001c0001t0004g0007 a0001c0001t0006g0005 others(3): Show |
6 | 136 | 0.0441 | 8 | c.161 others(25): Show |
DNM3 | ENSG00000197959.15 | transcript | ENST00000627582.3 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNM3_chr1_171836498_172417717 | 171875813 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00597.hp1 others(45): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(18): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0051 others(45): Show |
48 | 136 | 0.3529 | 8 | c.161 others(27): Show |
DNM3 | ENSG00000197959.15 | transcript | ENST00000627582.3 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNM3_chr1_171836498_172417717 | 171936359 | A | AAAAGAAA others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00438.hp2 others(82): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0030 others(82): Show |
85 | 136 | 0.6250 | 8 | c.235 others(27): Show |
DNM3 | ENSG00000197959.15 | transcript | ENST00000627582.3 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNM3_chr1_171836498_172417717 | 171959835 | C | CTGACCTT others(1): Show |
intron_variant | MODIFIER | HG02145.hp1 NA20300.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0005 | a0001c0002t0001g0052 a0001c0002t0005g0122 |
2 | 136 | 0.0147 | 8 | c.236 others(27): Show |
DNM3 | ENSG00000197959.15 | transcript | ENST00000627582.3 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNM3_chr1_171836498_172417717 | 172027617 | C | CACACACA others(1): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG02258.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004a0001c0002t0006others(3): Show | a0001c0002t0001g0026 a0001c0002t0001g0106 a0001c0002t0004g0014 others(5): Show |
8 | 136 | 0.0588 | 8 | c.590 others(25): Show |
DNM3 | ENSG00000197959.15 | transcript | ENST00000627582.3 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNM3_chr1_171836498_172417717 | 172027617 | C | CACACAGA others(1): Show |
intron_variant | MODIFIER | HG02622.hp1 NA18906.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0023 | a0001c0002t0002g0128 a0001c0002t0023g0119 |
2 | 136 | 0.0147 | 8 | c.590 others(25): Show |
DNM3 | ENSG00000197959.15 | transcript | ENST00000627582.3 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNM3_chr1_171836498_172417717 | 172066952 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02523.hp1 HG03471.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0002 | a0001c0002t0001g0061 a0001c0003t0002g0120 |
2 | 136 | 0.0147 | 8 | c.133 others(27): Show |
DNM3 | ENSG00000197959.15 | transcript | ENST00000627582.3 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNM3_chr1_171836498_172417717 | 172181375 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02071.hp1 HG02293.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0039 others(9): Show |
12 | 136 | 0.0882 | 8 | c.165 others(29): Show |
DNM3 | ENSG00000197959.15 | transcript | ENST00000627582.3 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNM3_chr1_171836498_172417717 | 172227271 | G | GATATATA others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01109.hp2 HG01243.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0030 a0001c0001t0001g0086 a0001c0001t0002g0092 others(5): Show |
8 | 136 | 0.0588 | 8 | c.166 others(29): Show |
DNM3 | ENSG00000197959.15 | transcript | ENST00000627582.3 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNM3_chr1_171836498_172417717 | 172241239 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG01071.hp2 others(45): Show |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0030 a0001c0001t0001g0037 a0001c0001t0001g0039 others(45): Show |
48 | 136 | 0.3529 | 8 | c.166 others(29): Show |
DNM3 | ENSG00000197959.15 | transcript | ENST00000627582.3 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNM3_chr1_171836498_172417717 | 172247656 | C | CTTACTTA others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00438.hp1 others(36): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0099 a0001c0001t0002g0055 a0001c0001t0002g0090 others(36): Show |
39 | 136 | 0.2868 | 8 | c.166 others(27): Show |
DNM3 | ENSG00000197959.15 | transcript | ENST00000627582.3 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNM3_chr1_171836498_172417717 | 172257877 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02572.hp2 HG03195.hp2 |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0019 | a0001c0002t0004g0014 a0001c0002t0004g0046 a0001c0002t0019g0045 |
3 | 136 | 0.0221 | 8 | c.176 others(27): Show |
DNM3 | ENSG00000197959.15 | transcript | ENST00000627582.3 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNM3_chr1_171836498_172417717 | 172276557 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01071.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0002t0002a0001c0002t0005others(2): Show | a0001c0001t0001g0051 a0001c0002t0002g0128 a0001c0002t0005g0068 others(3): Show |
6 | 136 | 0.0441 | 8 | c.176 others(29): Show |
DNM3 | ENSG00000197959.15 | transcript | ENST00000627582.3 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNM3_chr1_171836498_172417717 | 172286068 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02572.hp1 HG02922.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0005a0001c0001t0008others(4): Show | a0001c0001t0003g0087 a0001c0001t0005g0063 a0001c0001t0008g0095 others(9): Show |
12 | 136 | 0.0882 | 8 | c.177 others(29): Show |
DNM3 | ENSG00000197959.15 | transcript | ENST00000627582.3 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNM3_chr1_171836498_172417717 | 172292601 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG02083.hp1 HG03225.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0020 | a0001c0001t0003g0093 a0001c0002t0020g0012 |
2 | 136 | 0.0147 | 8 | c.177 others(29): Show |
DNM3 | ENSG00000197959.15 | transcript | ENST00000627582.3 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNM3_chr1_171836498_172417717 | 172304206 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02965.hp1 HG03453.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004a0001c0002t0023others(1): Show | a0001c0002t0001g0105 a0001c0002t0004g0009 a0001c0002t0004g0024 others(2): Show |
5 | 136 | 0.0368 | 8 | c.177 others(27): Show |
DNM3 | ENSG00000197959.15 | transcript | ENST00000627582.3 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNM3_chr1_171836498_172417717 | 172313767 | C | CATTTATT others(1): Show |
intron_variant | MODIFIER | HG02976.hp2 HG03209.hp1 HG03471.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0013a0001c0002t0012others(1): Show | a0001c0001t0001g0001 a0001c0001t0013g0118 a0001c0002t0012g0101 others(2): Show |
5 | 136 | 0.0368 | 8 | c.188 others(27): Show |
DNM3 | ENSG00000197959.15 | transcript | ENST00000627582.3 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNM3_chr1_171836498_172417717 | 172354112 | T | TGAGAGAG others(1): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02080.hp1 NA18612.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0003a0001c0002t0007others(1): Show | a0001c0001t0003g0083 a0001c0002t0003g0066 a0001c0002t0007g0084 others(1): Show |
4 | 136 | 0.0294 | 8 | c.189 others(29): Show |
DNM3 | ENSG00000197959.15 | transcript | ENST00000627582.3 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNM3_chr1_171836498_172417717 | 172354112 | T | TGTGAGAG others(1): Show |
intron_variant | MODIFIER | HG01243.hp1 HG03471.hp1 HG03669.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0004a0001c0002t0031 | a0001c0001t0003g0041 a0001c0002t0004g0020 a0001c0002t0031g0047 |
3 | 136 | 0.0221 | 8 | c.189 others(29): Show |
DNM3 | ENSG00000197959.15 | transcript | ENST00000627582.3 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNM3_chr1_171836498_172417717 | 172359125 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG01071.hp1 others(17): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0051 a0001c0001t0001g0073 a0001c0001t0002g0031 others(17): Show |
20 | 136 | 0.1471 | 8 | c.189 others(29): Show |
DNM3 | ENSG00000197959.15 | transcript | ENST00000627582.3 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNM3_chr1_171836498_172417717 | 172377553 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02615.hp2 HG02976.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004a0001c0002t0005others(4): Show | a0001c0002t0001g0076 a0001c0002t0004g0014 a0001c0002t0005g0122 others(4): Show |
7 | 136 | 0.0515 | 8 | c.189 others(27): Show |
DNM3 | ENSG00000197959.15 | transcript | ENST00000627582.3 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNMBP_chr10_99870577_100014947 | 99873901 | C | CTAGATAC others(1): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 HG02258.hp2 NA18522.hp1 others(1): Show |
a0003 | a0003c0005 | a0003c0005t0004 | a0003c0005t0004g0026 a0003c0005t0004g0127 a0003c0005t0004g0128 others(1): Show |
4 | 274 | 0.0146 | 8 | c.*32 others(19): Show |
DNMBP | ENSG00000107554.17 | transcript | ENST00000324109.9 | protein_coding | 1675 | chr10 | TogoVar | |||||||
DNMBP_chr10_99870577_100014947 | 99888214 | G | GTTTTTGT others(1): Show |
intron_variant | MODIFIER | HG02886.hp2 HG02895.hp1 HG02897.hp2 others(2): Show |
a0001a0002 | a0001c0006a0001c0032a0002c0010 | a0001c0006t0009a0001c0006t0019a0001c0032t0018others(1): Show | a0001c0006t0009g0216 a0001c0006t0009g0217 a0001c0006t0019g0167 others(2): Show |
5 | 274 | 0.0183 | 8 | c.328 others(25): Show |
DNMBP | ENSG00000107554.17 | transcript | ENST00000324109.9 | protein_coding | 12/16 | chr10 | TogoVar | |||||||
DNMBP_chr10_99870577_100014947 | 99915108 | A | AAAAAATA others(1): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01081.hp2 HG01255.hp1 others(19): Show |
a0001a0002 | a0001c0017a0002c0002a0002c0007others(1): Show | a0001c0017t0002a0002c0002t0001a0002c0007t0001others(2): Show | a0001c0017t0002g0190 a0002c0002t0001g0170 a0002c0002t0001g0229 others(19): Show |
22 | 274 | 0.0803 | 8 | c.226 others(27): Show |
DNMBP | ENSG00000107554.17 | transcript | ENST00000324109.9 | protein_coding | 4/16 | chr10 | TogoVar | |||||||
DNMBP_chr10_99870577_100014947 | 99918574 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(93): Show |
a0001a0002a0003others(4): Show | a0001c0006a0001c0009a0001c0011others(11): Show | a0001c0006t0004a0001c0006t0011a0001c0006t0024others(20): Show | a0001c0006t0004g0123 a0001c0006t0004g0183 a0001c0006t0011g0120 others(93): Show |
96 | 274 | 0.3504 | 8 | c.226 others(27): Show |
DNMBP | ENSG00000107554.17 | transcript | ENST00000324109.9 | protein_coding | 4/16 | chr10 | TogoVar | |||||||
DNMBP_chr10_99870577_100014947 | 99948965 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02056.hp1 HG02886.hp1 others(6): Show |
a0001a0002a0003others(2): Show | a0001c0006a0002c0002a0003c0005others(2): Show | a0001c0006t0010a0002c0002t0001a0002c0002t0008others(3): Show | a0001c0006t0010g0230 a0002c0002t0001g0205 a0002c0002t0001g0229 others(6): Show |
9 | 274 | 0.0329 | 8 | c.226 others(27): Show |
DNMBP | ENSG00000107554.17 | transcript | ENST00000324109.9 | protein_coding | 4/16 | chr10 | TogoVar | |||||||
DNMBP_chr10_99870577_100014947 | 99967668 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02083.hp1 NA18971.hp2 others(5): Show |
a0001a0002 | a0001c0017a0002c0002 | a0001c0017t0002a0002c0002t0001 | a0001c0017t0002g0190 a0002c0002t0001g0004 a0002c0002t0001g0172 others(5): Show |
8 | 274 | 0.0292 | 8 | c.268 others(25): Show |
DNMBP | ENSG00000107554.17 | transcript | ENST00000324109.9 | protein_coding | 3/16 | chr10 | TogoVar | |||||||
DNMBP_chr10_99870577_100014947 | 99973080 | C | CATTTATT others(1): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01081.hp1 HG01243.hp2 others(10): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0006a0002c0013others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0006t0011others(3): Show | a0001c0001t0002g0034 a0001c0001t0003g0032 a0001c0001t0003g0041 others(10): Show |
13 | 274 | 0.0475 | 8 | c.-10 others(23): Show |
DNMBP | ENSG00000107554.17 | transcript | ENST00000324109.9 | protein_coding | 1/16 | chr10 | TogoVar | |||||||
DNMBP_chr10_99870577_100014947 | 99986594 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00621.hp2 HG01106.hp2 others(7): Show |
a0001a0003a0014 | a0001c0006a0003c0005a0003c0020others(1): Show | a0001c0006t0019a0003c0005t0004a0003c0005t0010others(2): Show | a0001c0006t0019g0167 a0003c0005t0004g0026 a0003c0005t0004g0124 others(7): Show |
10 | 274 | 0.0365 | 8 | c.-10 others(27): Show |
DNMBP | ENSG00000107554.17 | transcript | ENST00000324109.9 | protein_coding | 1/16 | chr10 | TogoVar | |||||||
DNMT1_chr19_10128346_10199953 | 10171804 | C | CAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG02015.hp1 HG02523.hp2 others(5): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0004 | a0001c0001t0001a0002c0003t0001a0003c0004t0001 | a0001c0001t0001g0319 a0002c0003t0001g0027 a0002c0003t0001g0050 others(5): Show |
8 | 386 | 0.0207 | 8 | c.768 others(25): Show |
DNMT1 | ENSG00000130816.17 | transcript | ENST00000359526.9 | protein_coding | 9/40 | chr19 | TogoVar | |||||||
DNMT3A_chr2_25222874_25346925 | 25226707 | C | CATTTATT others(1): Show |
downstream_gene_variant | MODIFIER | HG02630.hp1 HG02717.hp2 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0085a0001c0001t0086a0001c0001t0090 | a0001c0001t0085g0095 a0001c0001t0086g0060 a0001c0001t0090g0083 |
3 | 294 | 0.0102 | 8 | c.*75 others(19): Show |
DNMT3A | ENSG00000119772.19 | transcript | ENST00000321117.10 | protein_coding | 1166 | chr2 | TogoVar | |||||||
DNMT3A_chr2_25222874_25346925 | 25278001 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG02895.hp2 HG03041.hp1 NA18947.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0124a0001c0002t0039a0001c0004t0177others(1): Show | a0001c0001t0124g0181 a0001c0002t0039g0186 a0001c0004t0177g0172 others(1): Show |
4 | 294 | 0.0136 | 8 | c.449 others(25): Show |
DNMT3A | ENSG00000119772.19 | transcript | ENST00000321117.10 | protein_coding | 4/22 | chr2 | TogoVar | |||||||
DNMT3A_chr2_25222874_25346925 | 25278042 | C | CACAAACA others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00558.hp1 HG00558.hp2 others(51): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(46): Show | a0001c0001t0001g0256 a0001c0001t0001g0263 a0001c0001t0001g0265 others(51): Show |
54 | 294 | 0.1837 | 8 | c.449 others(25): Show |
DNMT3A | ENSG00000119772.19 | transcript | ENST00000321117.10 | protein_coding | 4/22 | chr2 | TogoVar | |||||||
DNMT3A_chr2_25222874_25346925 | 25308968 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00597.hp1 HG00609.hp2 others(42): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(35): Show | a0001c0001t0001g0173 a0001c0001t0001g0256 a0001c0001t0001g0263 others(42): Show |
45 | 294 | 0.1531 | 8 | c.72+ others(23): Show |
DNMT3A | ENSG00000119772.19 | transcript | ENST00000321117.10 | protein_coding | 2/22 | chr2 | TogoVar | |||||||
DNMT3A_chr2_25222874_25346925 | 25326108 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01192.hp2 HG01255.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0023 a0001c0001t0003g0024 a0001c0001t0004g0112 others(11): Show |
14 | 294 | 0.0476 | 8 | c.-17 others(29): Show |
DNMT3A | ENSG00000119772.19 | transcript | ENST00000321117.10 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
DNPEP_chr2_219367043_219392912 | 219367993 | A | AACACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG00621.hp2 HG02027.hp1 HG02129.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0047 a0001c0002t0001g0014 a0001c0002t0001g0021 others(2): Show |
10 | 370 | 0.0270 | 8 | c.*62 others(19): Show |
DNPEP | ENSG00000123992.20 | transcript | ENST00000273075.9 | protein_coding | 4049 | chr2 | TogoVar | |||||||
DNPEP_chr2_219367043_219392912 | 219369608 | A | AACACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00423.hp2 others(191): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0001c0011others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(82): Show |
194 | 370 | 0.5243 | 8 | c.*46 others(19): Show |
DNPEP | ENSG00000123992.20 | transcript | ENST00000273075.9 | protein_coding | 2434 | chr2 | TogoVar | |||||||
DNPH1_chr6_43220629_43234481 | 43231899 | T | TTCTTTCT others(1): Show |
upstream_gene_variant | MODIFIER | HG01123.hp1 HG01891.hp1 HG01928.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0007 |
12 | 418 | 0.0287 | 8 | c.-24 others(19): Show |
DNPH1 | ENSG00000112667.13 | transcript | ENST00000230431.11 | protein_coding | 2419 | chr6 | TogoVar |