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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DYM_chr18_49031387_49465645 | 49145108 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG01358.hp2 HG01516.hp1 HG01884.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0146 a0001c0001t0003g0252 a0001c0001t0003g0255 others(9): Show |
12 | 290 | 0.0414 | 20 | c.172 others(41): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 15/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49145134 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01192.hp2 HG01261.hp1 others(16): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0004a0001c0003t0027 | a0001c0001t0002g0163 a0001c0001t0002g0171 a0001c0001t0002g0199 others(16): Show |
19 | 290 | 0.0655 | 20 | c.172 others(41): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 15/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49252216 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01358.hp2 HG01516.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0220 a0001c0001t0002g0172 a0001c0001t0005g0251 others(3): Show |
6 | 290 | 0.0207 | 20 | c.146 others(39): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 13/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49292312 | A | ACAGACAG others(13): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0055 | 1 | 290 | 0.0035 | 20 | c.764 others(37): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 8/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49317551 | T | TTGTCTCT others(13): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0208 | 1 | 290 | 0.0035 | 20 | c.763 others(39): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 8/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49317636 | A | ATCCTCTC others(13): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0257 | 1 | 290 | 0.0035 | 20 | c.763 others(39): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 8/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49317646 | C | CTCCTTCC others(13): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0276 | 1 | 290 | 0.0035 | 20 | c.763 others(39): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 8/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49440704 | A | ATGACTAT others(13): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0290 | 1 | 290 | 0.0035 | 20 | c.-53 others(39): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 1/17 | chr18 | TogoVar | |||||||
DYNC1H1_chr14_101959573_102061443 | 101998884 | T | TTTTTTGT others(13): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0031 | a0001c0031t0063 | a0001c0031t0063g0276 | 1 | 280 | 0.0036 | 20 | c.380 others(39): Show |
DYNC1H1 | ENSG00000197102.14 | transcript | ENST00000360184.10 | protein_coding | 16/77 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DYNC1H1_chr14_101959573_102061443 | 102047637 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0007 | a0001c0007t0010 | a0001c0007t0010g0270 | 1 | 280 | 0.0036 | 20 | c.130 others(39): Show |
DYNC1H1 | ENSG00000197102.14 | transcript | ENST00000360184.10 | protein_coding | 72/77 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DYNC1H1_chr14_101959573_102061443 | 102047641 | G | GTGTGTAT others(13): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0007 | a0001c0007t0014 | a0001c0007t0014g0075 | 1 | 280 | 0.0036 | 20 | c.130 others(39): Show |
DYNC1H1 | ENSG00000197102.14 | transcript | ENST00000360184.10 | protein_coding | 72/77 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DYNC1H1_chr14_101959573_102061443 | 102047641 | G | GTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01361.hp2 HG03017.hp2 others(1): Show |
a0001a0002 | a0001c0011a0002c0004 | a0001c0011t0005a0001c0011t0041a0002c0004t0040 | a0001c0011t0005g0011 a0001c0011t0005g0013 a0001c0011t0041g0014 others(1): Show |
4 | 280 | 0.0143 | 20 | c.130 others(39): Show |
DYNC1H1 | ENSG00000197102.14 | transcript | ENST00000360184.10 | protein_coding | 72/77 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DYNC1H1_chr14_101959573_102061443 | 102047641 | G | GTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0011 | a0001c0011t0005 | a0001c0011t0005g0012 | 1 | 280 | 0.0036 | 20 | c.130 others(39): Show |
DYNC1H1 | ENSG00000197102.14 | transcript | ENST00000360184.10 | protein_coding | 72/77 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DYNC1I1_chr7_95767554_96103424 | 95823952 | C | CTATATAT others(13): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02922.hp2 NA19240.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0095 a0001c0002t0001g0218 a0001c0003t0001g0228 |
3 | 230 | 0.0130 | 20 | c.315 others(37): Show |
DYNC1I1 | ENSG00000158560.14 | transcript | ENST00000447467.6 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC1I1_chr7_95767554_96103424 | 95936954 | T | TCACACAC others(13): Show |
intron_variant | MODIFIER | HG01346.hp2 HG03516.hp2 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0002a0001c0004t0001 | a0001c0003t0002g0125 a0001c0004t0001g0053 |
2 | 230 | 0.0087 | 20 | c.491 others(39): Show |
DYNC1I1 | ENSG00000158560.14 | transcript | ENST00000447467.6 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC1I1_chr7_95767554_96103424 | 95936956 | T | TCACACAC others(13): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0172 | 1 | 230 | 0.0044 | 20 | c.491 others(39): Show |
DYNC1I1 | ENSG00000158560.14 | transcript | ENST00000447467.6 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC1I1_chr7_95767554_96103424 | 95936956 | T | TCTCACAC others(13): Show |
intron_variant | MODIFIER | HG00140.hp2 HG03139.hp2 NA18993.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 a0001c0001t0001g0120 a0001c0001t0001g0177 others(2): Show |
5 | 230 | 0.0217 | 20 | c.491 others(39): Show |
DYNC1I1 | ENSG00000158560.14 | transcript | ENST00000447467.6 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC1I1_chr7_95767554_96103424 | 95986023 | C | CGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02717.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 a0001c0001t0001g0151 |
2 | 230 | 0.0087 | 20 | c.744 others(36): Show |
DYNC1I1 | ENSG00000158560.14 | transcript | ENST00000447467.6 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC1I1_chr7_95767554_96103424 | 96084427 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | NA19005.hp2 NA19082.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 a0001c0001t0001g0144 |
2 | 230 | 0.0087 | 20 | c.177 others(39): Show |
DYNC1I1 | ENSG00000158560.14 | transcript | ENST00000447467.6 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC1I1_chr7_95767554_96103424 | 96100650 | T | TTGTGTGT others(13): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 HG02738.hp2 HG02886.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0123 others(7): Show |
10 | 230 | 0.0435 | 20 | c.*30 others(31): Show |
DYNC1I1 | ENSG00000158560.14 | transcript | ENST00000447467.6 | protein_coding | 2227 | chr7 | TogoVar | |||||||
DYNC2H1_chr11_103104426_103484863 | 103288684 | T | TAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01361.hp2 HG01496.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0008a0001c0051others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0008t0001others(2): Show | a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0004g0150 others(9): Show |
12 | 262 | 0.0458 | 20 | c.110 others(41): Show |
DYNC2H1 | ENSG00000187240.17 | transcript | ENST00000375735.7 | protein_coding | 75/88 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
DYNC2H1_chr11_103104426_103484863 | 103288706 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0014 | 1 | 262 | 0.0038 | 20 | c.110 others(41): Show |
DYNC2H1 | ENSG00000187240.17 | transcript | ENST00000375735.7 | protein_coding | 75/88 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
DYNC2H1_chr11_103104426_103484863 | 103309168 | A | ATTTTTTT others(13): Show |
intron_variant | MODIFIER | HG01258.hp2 HG01891.hp2 HG02698.hp1 others(10): Show |
a0001 | a0001c0001a0001c0005a0001c0006 | a0001c0001t0001a0001c0005t0001a0001c0006t0001 | a0001c0001t0001g0125 a0001c0001t0001g0240 a0001c0001t0001g0242 others(10): Show |
13 | 262 | 0.0496 | 20 | c.114 others(41): Show |
DYNC2H1 | ENSG00000187240.17 | transcript | ENST00000375735.7 | protein_coding | 78/88 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
DYNC2H1_chr11_103104426_103484863 | 103453615 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02280.hp2 HG03195.hp1 others(4): Show |
a0001a0002a0007 | a0001c0001a0001c0005a0002c0027others(1): Show | a0001c0001t0001a0001c0005t0001a0002c0027t0001others(1): Show | a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0005t0001g0135 others(4): Show |
7 | 262 | 0.0267 | 20 | c.124 others(41): Show |
DYNC2H1 | ENSG00000187240.17 | transcript | ENST00000375735.7 | protein_coding | 85/88 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
DYNC2H1_chr11_103104426_103484863 | 103483022 | C | CAAAAAAA others(13): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 HG01109.hp2 HG01167.hp1 others(7): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0005a0001c0006others(5): Show | a0001c0001t0001a0001c0005t0001a0001c0006t0001others(5): Show | a0001c0001t0001g0134 a0001c0001t0001g0237 a0001c0001t0001g0240 others(7): Show |
10 | 262 | 0.0382 | 20 | c.*37 others(31): Show |
DYNC2H1 | ENSG00000187240.17 | transcript | ENST00000375735.7 | protein_coding | 3160 | chr11 | TogoVar | |||||||
DYNC2I2_chr9_128628653_128661847 | 128655335 | T | TAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02559.hp2 NA19007.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0003 | a0001c0001t0001g0025 a0001c0001t0001g0180 a0001c0003t0003g0323 |
4 | 368 | 0.0109 | 20 | c.186 others(37): Show |
DYNC2I2 | ENSG00000119333.12 | transcript | ENST00000372715.7 | protein_coding | 1/8 | chr9 | TogoVar | |||||||
DYNC2LI1_chr2_43769039_43815010 | 43775854 | A | ATTTTTTT others(13): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0106 | 1 | 294 | 0.0034 | 20 | c.9-9 others(31): Show |
DYNC2LI1 | ENSG00000138036.18 | transcript | ENST00000260605.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DYNC2LI1_chr2_43769039_43815010 | 43782011 | A | ATGTGTGT others(13): Show |
intron_variant | MODIFIER | HG02109.hp2 HG03209.hp1 HG03490.hp1 others(3): Show |
a0002a0003a0004 | a0002c0002a0003c0003a0004c0004 | a0002c0002t0002a0002c0002t0003a0003c0003t0003others(1): Show | a0002c0002t0002g0152 a0002c0002t0003g0011 a0002c0002t0003g0049 others(2): Show |
6 | 294 | 0.0204 | 20 | c.127 others(37): Show |
DYNC2LI1 | ENSG00000138036.18 | transcript | ENST00000260605.12 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DYNLL2_chr17_58078419_58100542 | 58083458 | A | AGCGGGCG others(13): Show |
5_prime_UTR_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0021 | 1 | 306 | 0.0033 | 20 | c.-22 others(29): Show |
DYNLL2 | ENSG00000264364.3 | transcript | ENST00000579991.3 | protein_coding | 1/3 | 3625 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DYNLT1_chr6_158631474_158649743 | 158636051 | G | GTATATAT others(13): Show |
downstream_gene_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 396 | 0.0025 | 20 | c.*77 others(29): Show |
DYNLT1 | ENSG00000146425.11 | transcript | ENST00000367089.8 | protein_coding | 422 | chr6 | TogoVar | |||||||
DYNLT1_chr6_158631474_158649743 | 158636069 | A | ATATATAT others(13): Show |
downstream_gene_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 396 | 0.0025 | 20 | c.*75 others(29): Show |
DYNLT1 | ENSG00000146425.11 | transcript | ENST00000367089.8 | protein_coding | 404 | chr6 | TogoVar | |||||||
DYNLT1_chr6_158631474_158649743 | 158636069 | A | ATATATAT others(13): Show |
downstream_gene_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 396 | 0.0025 | 20 | c.*75 others(29): Show |
DYNLT1 | ENSG00000146425.11 | transcript | ENST00000367089.8 | protein_coding | 404 | chr6 | TogoVar | |||||||
DYNLT1_chr6_158631474_158649743 | 158636069 | A | ATATATAT others(13): Show |
downstream_gene_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 396 | 0.0025 | 20 | c.*75 others(29): Show |
DYNLT1 | ENSG00000146425.11 | transcript | ENST00000367089.8 | protein_coding | 404 | chr6 | TogoVar | |||||||
DYNLT2B_chr3_196286219_196323240 | 196316894 | T | TGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 330 | 0.0030 | 20 | c.114 others(35): Show |
DYNLT2B | ENSG00000213123.11 | transcript | ENST00000325318.10 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
DYRK1A_chr21_37361773_37531358 | 37417529 | C | CTTTTTCT others(13): Show |
intron_variant | MODIFIER | HG00438.hp1 NA18943.hp1 NA19078.hp1 |
a0001 | a0001c0001 | a0001c0001t0037a0001c0001t0039a0001c0001t0135 | a0001c0001t0037g0248 a0001c0001t0039g0235 a0001c0001t0135g0236 |
3 | 350 | 0.0086 | 20 | c.-76 others(37): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DYRK1A_chr21_37361773_37531358 | 37440130 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG01993.hp1 HG02004.hp2 HG02809.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014a0001c0001t0067 | a0001c0001t0001g0008 a0001c0001t0014g0079 a0001c0001t0014g0102 others(1): Show |
4 | 350 | 0.0114 | 20 | c.10+ others(37): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DYRK1A_chr21_37361773_37531358 | 37457013 | T | TTTACTTA others(13): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0211 | 1 | 350 | 0.0029 | 20 | c.11- others(37): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DYRK1A_chr21_37361773_37531358 | 37457037 | C | CTTACTTA others(13): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0123 | a0001c0001t0123g0005 | 1 | 350 | 0.0029 | 20 | c.11- others(37): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DYRK1A_chr21_37361773_37531358 | 37458268 | C | CTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG01109.hp2 HG04228.hp1 NA19002.hp2 |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0131a0001c0001t0152 | a0001c0001t0022g0263 a0001c0001t0131g0191 a0001c0001t0152g0261 |
3 | 350 | 0.0086 | 20 | c.11- others(37): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DYRK1A_chr21_37361773_37531358 | 37463203 | C | CGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG00609.hp1 HG03540.hp1 NA18964.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0030a0001c0001t0057others(2): Show | a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0030g0044 others(3): Show |
6 | 350 | 0.0171 | 20 | c.11- others(35): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DYRK1A_chr21_37361773_37531358 | 37519743 | T | TTTTTGTT others(13): Show |
3_prime_UTR_variant | MODIFIER | NA18968.hp2 NA18977.hp1 NA19009.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0115 a0001c0001t0012g0116 a0001c0001t0012g0121 others(2): Show |
5 | 350 | 0.0143 | 20 | c.*72 others(31): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 12/12 | 7217 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
DYRK2_chr12_67643745_67670406 | 67648674 | A | AGGAGGGC others(13): Show |
upstream_gene_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0009 | 1 | 390 | 0.0026 | 20 | c.-46 others(29): Show |
DYRK2 | ENSG00000127334.11 | transcript | ENST00000344096.4 | protein_coding | 70 | chr12 | TogoVar | |||||||
DYRK4_chr12_4557208_4618875 | 4575298 | A | ATTGTGTG others(13): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01243.hp1 HG01256.hp1 others(28): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(6): Show | a0001c0001t0001g0008 a0001c0001t0001g0092 a0001c0001t0001g0093 others(27): Show |
31 | 414 | 0.0749 | 20 | c.132 others(37): Show |
DYRK4 | ENSG00000010219.14 | transcript | ENST00000543431.6 | protein_coding | 2/14 | chr12 | TogoVar | |||||||
DYRK4_chr12_4557208_4618875 | 4575298 | A | ATTTTGTG others(13): Show |
intron_variant | MODIFIER | HG03710.hp1 NA20805.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0103 a0001c0005t0001g0033 |
2 | 414 | 0.0048 | 20 | c.132 others(37): Show |
DYRK4 | ENSG00000010219.14 | transcript | ENST00000543431.6 | protein_coding | 2/14 | chr12 | TogoVar | |||||||
DYRK4_chr12_4557208_4618875 | 4575299 | C | CTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0249 | 1 | 414 | 0.0024 | 20 | c.132 others(37): Show |
DYRK4 | ENSG00000010219.14 | transcript | ENST00000543431.6 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DYRK4_chr12_4557208_4618875 | 4586729 | C | CACACACA others(13): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0004 | a0004c0011 | a0004c0011t0001 | a0004c0011t0001g0258 | 1 | 414 | 0.0024 | 20 | c.133 others(37): Show |
DYRK4 | ENSG00000010219.14 | transcript | ENST00000543431.6 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DYSF_chr2_71448561_71691763 | 71481722 | C | CCATCCAT others(13): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00544.hp2 others(50): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(28): Show | a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0087 others(50): Show |
53 | 192 | 0.2760 | 20 | c.145 others(35): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 2/54 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DYSF_chr2_71448561_71691763 | 71571450 | A | ACACACAC others(13): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02615.hp2 HG02717.hp1 others(10): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0007a0001c0051others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0007t0002others(6): Show | a0001c0001t0001g0045 a0001c0001t0001g0069 a0001c0001t0001g0095 others(10): Show |
13 | 192 | 0.0677 | 20 | c.317 others(37): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 29/54 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DYSF_chr2_71448561_71691763 | 71571460 | A | ATCACACC others(13): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01891.hp1 HG02630.hp1 others(4): Show |
a0001a0004a0014 | a0001c0010a0001c0041a0001c0073others(2): Show | a0001c0010t0002a0001c0041t0002a0001c0073t0001others(2): Show | a0001c0010t0002g0026 a0001c0041t0002g0144 a0001c0073t0001g0005 others(4): Show |
7 | 192 | 0.0365 | 20 | c.317 others(37): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 29/54 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DYSF_chr2_71448561_71691763 | 71571867 | A | ATCACACC others(13): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0020 | a0020c0044 | a0020c0044t0002 | a0020c0044t0002g0148 | 1 | 192 | 0.0052 | 20 | c.317 others(39): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 29/54 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |