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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DUXA_chr19_57149021_57172485 | 57165320 | A | AATATATA others(19): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 380 | 0.0026 | 26 | c.25+ others(41): Show |
DUXA | ENSG00000258873.3 | transcript | ENST00000554048.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
DVL2_chr17_7220342_7239517 | 7233087 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG00642.hp1 HG02155.hp1 NA18966.hp1 others(2): Show |
a0001a0007 | a0001c0002a0001c0003a0007c0017 | a0001c0002t0001a0001c0003t0002a0001c0003t0005others(1): Show | a0001c0002t0001g0155 a0001c0003t0002g0047 a0001c0003t0005g0050 others(1): Show |
5 | 180 | 0.0278 | 26 | c.194 others(41): Show |
DVL2 | ENSG00000004975.12 | transcript | ENST00000005340.10 | protein_coding | 1/14 | chr17 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49145108 | C | CATATATA others(19): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0271 | 1 | 163 | 0.0061 | 26 | c.172 others(47): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 15/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49145134 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG00099.hp2 HG02135.hp1 NA18991.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0217 a0001c0001t0002g0214 a0001c0001t0006g0172 |
3 | 108 | 0.0278 | 26 | c.172 others(47): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 15/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49252216 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG03669.hp2 HG03688.hp1 NA20300.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0028a0001c0003t0009 | a0001c0001t0001g0253 a0001c0001t0028g0270 a0001c0003t0009g0002 |
3 | 11 | 0.2727 | 26 | c.146 others(45): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 13/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49289772 | T | TATATACA others(19): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0105 | 1 | 209 | 0.0048 | 26 | c.764 others(43): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 8/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49317551 | T | TTGTCTCT others(19): Show |
intron_variant | MODIFIER | HG02056.hp2 HG03654.hp1 NA19074.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0113 a0001c0001t0002g0193 a0001c0001t0002g0219 |
3 | 222 | 0.0135 | 26 | c.763 others(45): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 8/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49440354 | G | GTATATGA others(19): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(38): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0002g0181 a0001c0001t0003g0010 a0001c0001t0003g0071 others(38): Show |
41 | 285 | 0.1439 | 26 | c.-53 others(43): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 1/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49440387 | A | ATATATAA others(19): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0259 | 1 | 278 | 0.0036 | 26 | c.-53 others(43): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 1/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49440859 | T | TTATATAA others(19): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02559.hp1 HG02647.hp1 others(6): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0007a0001c0001t0037a0001c0001t0038others(1): Show | a0001c0001t0007g0105 a0001c0001t0007g0106 a0001c0001t0007g0108 others(6): Show |
9 | 101 | 0.0891 | 26 | c.-53 others(45): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 1/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49461167 | A | AAACCTCA others(19): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG02015.hp2 HG02027.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0018 | a0001c0001t0010g0144 a0001c0001t0010g0272 a0001c0001t0010g0273 others(3): Show |
6 | 288 | 0.0208 | 26 | c.-84 others(35): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 523 | chr18 | TogoVar | |||||||
DYNC1H1_chr14_101959573_102061443 | 102047637 | G | GTATATAT others(19): Show |
intron_variant | MODIFIER | HG00140.hp1 HG02572.hp2 HG03098.hp2 |
a0002 | a0002c0005 | a0002c0005t0006 | a0002c0005t0006g0032 a0002c0005t0006g0033 a0002c0005t0006g0163 |
3 | 263 | 0.0114 | 26 | c.130 others(45): Show |
DYNC1H1 | ENSG00000197102.14 | transcript | ENST00000360184.10 | protein_coding | 72/77 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DYNC1H1_chr14_101959573_102061443 | 102047639 | G | GTATATAT others(19): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0002 | a0002c0005 | a0002c0005t0006 | a0002c0005t0006g0019 | 1 | 192 | 0.0052 | 26 | c.130 others(45): Show |
DYNC1H1 | ENSG00000197102.14 | transcript | ENST00000360184.10 | protein_coding | 72/77 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DYNC1H1_chr14_101959573_102061443 | 102047641 | G | GTACATAT others(19): Show |
intron_variant | MODIFIER | NA18951.hp1 NA18967.hp2 NA18973.hp2 others(5): Show |
a0001 | a0001c0006 | a0001c0006t0007 | a0001c0006t0007g0004 a0001c0006t0007g0257 a0001c0006t0007g0258 others(4): Show |
8 | 114 | 0.0702 | 26 | c.130 others(45): 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(19): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02027.hp1 HG03654.hp2 others(3): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0002a0001c0001t0042a0001c0011t0005 | a0001c0001t0002g0194 a0001c0001t0002g0198 a0001c0001t0002g0210 others(3): Show |
6 | 112 | 0.0536 | 26 | c.130 others(45): 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(19): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02922.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0208 a0001c0001t0003g0230 a0001c0001t0003g0233 |
3 | 109 | 0.0275 | 26 | c.130 others(45): 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(19): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01258.hp1 |
a0001 | a0001c0007 | a0001c0007t0013 | a0001c0007t0013g0035 a0001c0007t0013g0036 |
2 | 108 | 0.0185 | 26 | c.130 others(45): Show |
DYNC1H1 | ENSG00000197102.14 | transcript | ENST00000360184.10 | protein_coding | 72/77 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DYNC1I1_chr7_95767554_96103424 | 95795301 | T | TTTTAACT others(19): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01081.hp2 HG01123.hp1 others(28): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(1): Show | a0001c0001t0001g0043 a0001c0001t0001g0052 a0001c0003t0001g0002 others(28): Show |
31 | 227 | 0.1366 | 26 | c.-9- others(41): Show |
DYNC1I1 | ENSG00000158560.14 | transcript | ENST00000447467.6 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC1I1_chr7_95767554_96103424 | 95823952 | C | CTATATAT others(19): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 43 | 0.0233 | 26 | c.315 others(43): Show |
DYNC1I1 | ENSG00000158560.14 | transcript | ENST00000447467.6 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC1I1_chr7_95767554_96103424 | 95936956 | T | TCTCTCAC others(19): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0169 | 1 | 44 | 0.0227 | 26 | c.491 others(45): Show |
DYNC1I1 | ENSG00000158560.14 | transcript | ENST00000447467.6 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC1I1_chr7_95767554_96103424 | 96089069 | A | AAGGTCCC others(19): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02965.hp1 |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0089 a0001c0006t0001g0216 |
2 | 228 | 0.0088 | 26 | c.177 others(45): Show |
DYNC1I1 | ENSG00000158560.14 | transcript | ENST00000447467.6 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC1LI1_chr3_32520974_32575858 | 32532485 | G | GTATATAT others(19): Show |
intron_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0298 | 1 | 269 | 0.0037 | 26 | c.108 others(43): Show |
DYNC1LI1 | ENSG00000144635.9 | transcript | ENST00000273130.9 | protein_coding | 8/12 | chr3 | TogoVar | |||||||
DYNC1LI1_chr3_32520974_32575858 | 32532485 | G | GTATGTGT others(19): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0033 | 1 | 269 | 0.0037 | 26 | c.108 others(43): Show |
DYNC1LI1 | ENSG00000144635.9 | transcript | ENST00000273130.9 | protein_coding | 8/12 | chr3 | TogoVar | |||||||
DYNC1LI1_chr3_32520974_32575858 | 32537874 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01358.hp2 HG02572.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0109 others(4): Show |
7 | 334 | 0.0210 | 26 | c.739 others(41): Show |
DYNC1LI1 | ENSG00000144635.9 | transcript | ENST00000273130.9 | protein_coding | 5/12 | chr3 | TogoVar | |||||||
DYNC2H1_chr11_103104426_103484863 | 103288684 | T | TAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0036 | 1 | 118 | 0.0085 | 26 | c.110 others(47): 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(19): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0011 | 1 | 19 | 0.0526 | 26 | c.114 others(47): 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(19): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0191 | 1 | 76 | 0.0132 | 26 | c.124 others(47): 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(19): Show |
downstream_gene_variant | MODIFIER | HG02056.hp2 | a0006 | a0006c0013 | a0006c0013t0001 | a0006c0013t0001g0093 | 1 | 32 | 0.0313 | 26 | c.*37 others(37): Show |
DYNC2H1 | ENSG00000187240.17 | transcript | ENST00000375735.7 | protein_coding | 3160 | chr11 | TogoVar | |||||||
DYNC2I1_chr7_158851558_158951189 | 158937622 | G | GAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0217 | 1 | 118 | 0.0085 | 26 | c.277 others(45): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 23/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC2I2_chr9_128628653_128661847 | 128650526 | C | CATATATA others(19): Show |
intron_variant | MODIFIER | HG03225.hp2 NA19030.hp1 NA19240.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0055 a0001c0003t0001g0056 a0001c0003t0001g0285 |
3 | 286 | 0.0105 | 26 | c.186 others(43): Show |
DYNC2I2 | ENSG00000119333.12 | transcript | ENST00000372715.7 | protein_coding | 1/8 | chr9 | TogoVar | |||||||
DYNC2I2_chr9_128628653_128661847 | 128655335 | T | TAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG02083.hp2 NA18957.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 a0001c0001t0001g0190 |
2 | 21 | 0.0952 | 26 | c.186 others(43): Show |
DYNC2I2 | ENSG00000119333.12 | transcript | ENST00000372715.7 | protein_coding | 1/8 | chr9 | TogoVar | |||||||
DYNC2LI1_chr2_43769039_43815010 | 43813659 | G | GGAGCGTA others(19): Show |
downstream_gene_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 292 | 0.0034 | 26 | c.*38 others(37): Show |
DYNC2LI1 | ENSG00000138036.18 | transcript | ENST00000260605.12 | protein_coding | 3650 | chr2 | TogoVar | |||||||
DYNLT1_chr6_158631474_158649743 | 158636051 | G | GTATATAT others(19): Show |
downstream_gene_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 342 | 0.0029 | 26 | c.*77 others(35): Show |
DYNLT1 | ENSG00000146425.11 | transcript | ENST00000367089.8 | protein_coding | 422 | chr6 | TogoVar | |||||||
DYNLT1_chr6_158631474_158649743 | 158636051 | G | GTGTATAT others(19): Show |
downstream_gene_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 342 | 0.0029 | 26 | c.*77 others(35): Show |
DYNLT1 | ENSG00000146425.11 | transcript | ENST00000367089.8 | protein_coding | 422 | chr6 | TogoVar | |||||||
DYNLT1_chr6_158631474_158649743 | 158636069 | A | ATATATAT others(19): Show |
downstream_gene_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 185 | 0.0054 | 26 | c.*75 others(35): Show |
DYNLT1 | ENSG00000146425.11 | transcript | ENST00000367089.8 | protein_coding | 404 | chr6 | TogoVar | |||||||
DYNLT1_chr6_158631474_158649743 | 158636069 | A | ATATATAT others(19): Show |
downstream_gene_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 185 | 0.0054 | 26 | c.*75 others(35): Show |
DYNLT1 | ENSG00000146425.11 | transcript | ENST00000367089.8 | protein_coding | 404 | chr6 | TogoVar | |||||||
DYNLT1_chr6_158631474_158649743 | 158636069 | A | ATATATAT others(19): Show |
downstream_gene_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 185 | 0.0054 | 26 | c.*75 others(35): Show |
DYNLT1 | ENSG00000146425.11 | transcript | ENST00000367089.8 | protein_coding | 404 | chr6 | TogoVar | |||||||
DYNLT1_chr6_158631474_158649743 | 158636069 | A | ATATATAT others(19): Show |
downstream_gene_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 185 | 0.0054 | 26 | c.*75 others(35): Show |
DYNLT1 | ENSG00000146425.11 | transcript | ENST00000367089.8 | protein_coding | 404 | chr6 | TogoVar | |||||||
DYNLT1_chr6_158631474_158649743 | 158636069 | A | ATATATAT others(19): Show |
downstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 185 | 0.0054 | 26 | c.*75 others(35): Show |
DYNLT1 | ENSG00000146425.11 | transcript | ENST00000367089.8 | protein_coding | 404 | chr6 | TogoVar | |||||||
DYNLT1_chr6_158631474_158649743 | 158636069 | A | ATATATAT others(19): Show |
downstream_gene_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 185 | 0.0054 | 26 | c.*75 others(35): Show |
DYNLT1 | ENSG00000146425.11 | transcript | ENST00000367089.8 | protein_coding | 404 | chr6 | TogoVar | |||||||
DYNLT2B_chr3_196286219_196323240 | 196316890 | A | AGTGTGTG others(19): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 140 | 0.0071 | 26 | c.114 others(41): Show |
DYNLT2B | ENSG00000213123.11 | transcript | ENST00000325318.10 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
DYNLT2B_chr3_196286219_196323240 | 196317389 | T | TGTGTGTG others(19): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 206 | 0.0049 | 26 | c.113 others(41): Show |
DYNLT2B | ENSG00000213123.11 | transcript | ENST00000325318.10 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
DYRK1A_chr21_37361773_37531358 | 37440130 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG00099.hp2 HG02622.hp2 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0025a0001c0001t0044 | a0001c0001t0005g0109 a0001c0001t0025g0044 a0001c0001t0044g0168 |
3 | 68 | 0.0441 | 26 | c.10+ others(43): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DYRK1A_chr21_37361773_37531358 | 37479606 | G | GTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 282 | 0.0035 | 26 | c.301 others(43): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DYRK1A_chr21_37361773_37531358 | 37519747 | T | TGTTTTGT others(19): Show |
3_prime_UTR_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0128 | a0001c0001t0128g0200 | 1 | 346 | 0.0029 | 26 | c.*72 others(37): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 12/12 | 7217 | chr21 | TogoVar | ||||||
DYRK1A_chr21_37361773_37531358 | 37519748 | T | TGTTTTGT others(19): Show |
3_prime_UTR_variant | MODIFIER | HG03669.hp2 NA18978.hp1 |
a0001 | a0001c0001 | a0001c0001t0129a0001c0001t0141 | a0001c0001t0129g0236 a0001c0001t0141g0182 |
2 | 213 | 0.0094 | 26 | c.*72 others(37): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 12/12 | 7218 | chr21 | TogoVar | ||||||
DYRK4_chr12_4557208_4618875 | 4575298 | A | ATTGTGTG others(19): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00558.hp1 others(19): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(6): Show | a0001c0001t0001g0007 a0001c0001t0001g0079 a0001c0001t0001g0080 others(18): Show |
22 | 290 | 0.0759 | 26 | c.132 others(43): Show |
DYRK4 | ENSG00000010219.14 | transcript | ENST00000543431.6 | protein_coding | 2/14 | chr12 | TogoVar | |||||||
DYRK4_chr12_4557208_4618875 | 4575298 | A | ATTTTGTG others(19): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0278 | 1 | 269 | 0.0037 | 26 | c.132 others(43): Show |
DYRK4 | ENSG00000010219.14 | transcript | ENST00000543431.6 | protein_coding | 2/14 | chr12 | TogoVar | |||||||
DZANK1_chr20_18378367_18472030 | 18440060 | G | GGGTTGTG others(19): Show |
intron_variant | MODIFIER | NA18990.hp2 NA18999.hp2 |
a0001a0014 | a0001c0001a0014c0021 | a0001c0001t0002a0014c0021t0002 | a0001c0001t0002g0275 a0014c0021t0002g0183 |
2 | 372 | 0.0054 | 26 | c.804 others(43): Show |
DZANK1 | ENSG00000089091.17 | transcript | ENST00000699568.1 | protein_coding | 8/20 | chr20 | TogoVar | |||||||
DZIP1_chr13_95573202_95649706 | 95645320 | C | CTATATAT others(19): Show |
upstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0053 | 1 | 134 | 0.0075 | 26 | c.-14 others(37): Show |
DZIP1 | ENSG00000134874.18 | transcript | ENST00000376829.7 | protein_coding | 615 | chr13 | TogoVar |