regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 | 49080150 | C | CGGGGGGG others(8): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01496.hp2 HG01981.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(2): Show | a0001c0001t0002g0165a0001c0001t0002g0166a0001c0001t0002g0175others(15): Show | 18 | 290 | 0.0621 | 15 | c.202 others(36): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 17/17 | chr18 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49205992 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(100): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0187a0001c0001t0001g0219a0001c0001t0001g0220others(100): Show | 103 | 290 | 0.3552 | 15 | c.162 others(34): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49206002 | T | TGTTTTTT others(8): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0010 | a0002c0010t0023 | a0002c0010t0023g0009 | 1 | 290 | 0.0035 | 15 | c.162 others(34): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49252216 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01106.hp2 HG01361.hp2 others(11): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0002g0166a0001c0001t0002g0171a0001c0001t0002g0175others(11): Show | 14 | 290 | 0.0483 | 15 | c.146 others(34): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 13/17 | chr18 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49317597 | C | CTCTCTCT others(8): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01256.hp2 HG01258.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010a0001c0001t0017others(1): Show | a0001c0001t0002g0287a0001c0001t0010g0275a0001c0001t0017g0288others(1): Show | 4 | 290 | 0.0138 | 15 | c.763 others(34): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 8/17 | chr18 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49317636 | A | ATCCTCTC others(8): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00621.hp2 HG01074.hp1 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0187a0001c0001t0001g0249a0001c0001t0002g0113others(27): Show | 30 | 290 | 0.1035 | 15 | c.763 others(34): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 8/17 | chr18 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49432329 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0134 | 1 | 290 | 0.0035 | 15 | c.-53 others(32): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 1/17 | chr18 | TogoVar | ||||||
DYNC1H1_chr14_101959573_102061443 | 101961732 | T | TTTATTAT others(8): Show |
upstream_gene_variant | MODIFIER | NA18947.hp1 NA19030.hp1 |
a0001 | a0001c0006a0001c0025 | a0001c0006t0006a0001c0025t0043 | a0001c0006t0006g0265a0001c0025t0043g0245 | 2 | 280 | 0.0071 | 15 | c.-29 others(26): Show |
DYNC1H1 | ENSG00000197102.14 | transcript | ENST00000360184.10 | protein_coding | 2840 | chr14 | TogoVar | ||||||
DYNC1I1_chr7_95767554_96103424 | 95954915 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01433.hp2 HG03669.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0172a0001c0003t0001g0015a0001c0003t0001g0202 | 3 | 230 | 0.0130 | 15 | c.491 others(34): Show |
DYNC1I1 | ENSG00000158560.14 | transcript | ENST00000447467.6 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DYNC1LI1_chr3_32520974_32575858 | 32532480 | A | ATGTGTAT others(8): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0266 | 1 | 336 | 0.0030 | 15 | c.108 others(32): Show |
DYNC1LI1 | ENSG00000144635.9 | transcript | ENST00000273130.9 | protein_coding | 8/12 | chr3 | TogoVar | ||||||
DYNC1LI1_chr3_32520974_32575858 | 32537926 | A | ATATTATA others(8): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0302 | 1 | 336 | 0.0030 | 15 | c.739 others(30): Show |
DYNC1LI1 | ENSG00000144635.9 | transcript | ENST00000273130.9 | protein_coding | 5/12 | chr3 | TogoVar | ||||||
DYNC1LI1_chr3_32520974_32575858 | 32537927 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01109.hp2 HG01168.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0014others(1): Show | a0001c0001t0004g0053a0001c0001t0004g0056a0001c0001t0004g0057others(8): Show | 11 | 336 | 0.0327 | 15 | c.739 others(30): Show |
DYNC1LI1 | ENSG00000144635.9 | transcript | ENST00000273130.9 | protein_coding | 5/12 | chr3 | TogoVar | ||||||
DYNC1LI1_chr3_32520974_32575858 | 32537937 | A | AATTTATA others(8): Show |
intron_variant | MODIFIER | HG02970.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0071a0001c0001t0004g0072 | 2 | 336 | 0.0060 | 15 | c.739 others(30): Show |
DYNC1LI1 | ENSG00000144635.9 | transcript | ENST00000273130.9 | protein_coding | 5/12 | chr3 | TogoVar | ||||||
DYNC2H1_chr11_103104426_103484863 | 103291445 | A | AAATAAAT others(8): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0020 | a0020c0037 | a0020c0037t0005 | a0020c0037t0005g0030 | 1 | 262 | 0.0038 | 15 | c.110 others(36): Show |
DYNC2H1 | ENSG00000187240.17 | transcript | ENST00000375735.7 | protein_coding | 75/88 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
DYNC2H1_chr11_103104426_103484863 | 103446037 | T | TTTGTTGT others(8): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0034 | a0034c0059 | a0034c0059t0001 | a0034c0059t0001g0027 | 1 | 262 | 0.0038 | 15 | c.124 others(36): 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(8): Show |
downstream_gene_variant | MODIFIER | HG01433.hp2 NA20300.hp1 |
a0002a0006 | a0002c0009a0006c0012 | a0002c0009t0001a0006c0012t0001 | a0002c0009t0001g0262a0006c0012t0001g0209 | 2 | 262 | 0.0076 | 15 | c.*37 others(26): Show |
DYNC2H1 | ENSG00000187240.17 | transcript | ENST00000375735.7 | protein_coding | 3160 | chr11 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158858946 | C | CCCTCCCC others(8): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00733.hp1 others(23): Show |
a0003a0005a0011 | a0003c0003a0003c0009a0003c0027others(2): Show | a0003c0003t0004a0003c0003t0007a0003c0009t0011others(3): Show | a0003c0003t0004g0238a0003c0003t0004g0239a0003c0003t0004g0242others(23): Show | 26 | 274 | 0.0949 | 15 | c.15+ others(30): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DYNC2I1_chr7_158851558_158951189 | 158937622 | G | GAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02976.hp2 NA19030.hp2 NA19043.hp2 |
a0003a0004 | a0003c0009a0004c0004 | a0003c0009t0011a0004c0004t0001 | a0003c0009t0011g0253a0003c0009t0011g0261a0004c0004t0001g0170 | 3 | 274 | 0.0110 | 15 | c.277 others(34): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 23/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DYNC2I2_chr9_128628653_128661847 | 128649705 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0289 | 1 | 368 | 0.0027 | 15 | c.186 others(32): Show |
DYNC2I2 | ENSG00000119333.12 | transcript | ENST00000372715.7 | protein_coding | 1/8 | chr9 | TogoVar | ||||||
DYNC2I2_chr9_128628653_128661847 | 128655335 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03130.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163a0001c0001t0001g0297 | 2 | 368 | 0.0054 | 15 | c.186 others(32): Show |
DYNC2I2 | ENSG00000119333.12 | transcript | ENST00000372715.7 | protein_coding | 1/8 | chr9 | TogoVar | ||||||
DYNC2LI1_chr2_43769039_43815010 | 43775854 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0115 | 1 | 294 | 0.0034 | 15 | c.9-9 others(26): Show |
DYNC2LI1 | ENSG00000138036.18 | transcript | ENST00000260605.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DYNLT1_chr6_158631474_158649743 | 158636069 | A | ATATATAT others(8): Show |
downstream_gene_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 396 | 0.0025 | 15 | c.*75 others(24): Show |
DYNLT1 | ENSG00000146425.11 | transcript | ENST00000367089.8 | protein_coding | 404 | chr6 | TogoVar | ||||||
DYNLT1_chr6_158631474_158649743 | 158636069 | A | ATATATAT others(8): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 396 | 0.0025 | 15 | c.*75 others(24): Show |
DYNLT1 | ENSG00000146425.11 | transcript | ENST00000367089.8 | protein_coding | 404 | chr6 | TogoVar | ||||||
DYNLT1_chr6_158631474_158649743 | 158636069 | A | ATATATAT others(8): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 396 | 0.0025 | 15 | c.*75 others(24): Show |
DYNLT1 | ENSG00000146425.11 | transcript | ENST00000367089.8 | protein_coding | 404 | chr6 | TogoVar | ||||||
DYNLT1_chr6_158631474_158649743 | 158636070 | T | TATATATA others(8): Show |
downstream_gene_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 396 | 0.0025 | 15 | c.*75 others(24): Show |
DYNLT1 | ENSG00000146425.11 | transcript | ENST00000367089.8 | protein_coding | 403 | chr6 | TogoVar | ||||||
DYNLT2B_chr3_196286219_196323240 | 196316908 | T | TGTGTGTG others(8): Show |
intron_variant | MODIFIER | HG00408.hp1 HG02602.hp2 HG03710.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0159a0001c0001t0001g0174others(5): Show | 9 | 330 | 0.0273 | 15 | c.114 others(30): Show |
DYNLT2B | ENSG00000213123.11 | transcript | ENST00000325318.10 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
DYNLT2B_chr3_196286219_196323240 | 196317480 | T | TGTGTGTG others(8): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 330 | 0.0030 | 15 | c.113 others(30): Show |
DYNLT2B | ENSG00000213123.11 | transcript | ENST00000325318.10 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
DYNLT2B_chr3_196286219_196323240 | 196317907 | G | GCGGCCTC others(8): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 330 | 0.0030 | 15 | c.113 others(30): Show |
DYNLT2B | ENSG00000213123.11 | transcript | ENST00000325318.10 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
DYRK1A_chr21_37361773_37531358 | 37440130 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01081.hp1 HG01361.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(5): Show | a0001c0001t0001g0049a0001c0001t0001g0087a0001c0001t0001g0092others(10): Show | 13 | 350 | 0.0371 | 15 | c.10+ others(32): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
DYRK1A_chr21_37361773_37531358 | 37454085 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0144 | 1 | 350 | 0.0029 | 15 | c.11- others(32): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
DYRK1A_chr21_37361773_37531358 | 37501166 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02280.hp1 HG02486.hp2 |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0158 | a0001c0001t0016g0025a0001c0001t0016g0026a0001c0001t0158g0298 | 3 | 350 | 0.0086 | 15 | c.121 others(34): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
DYRK1A_chr21_37361773_37531358 | 37519741 | T | TTTTGTTT others(8): Show |
3_prime_UTR_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0003 | a0001c0003t0056 | a0001c0003t0056g0317 | 1 | 350 | 0.0029 | 15 | c.*72 others(26): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 12/12 | 7214 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||
DYRK1A_chr21_37361773_37531358 | 37519743 | T | TTTTTGTT others(8): Show |
3_prime_UTR_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0112 | 1 | 350 | 0.0029 | 15 | c.*72 others(26): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 12/12 | 7217 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||
DYSF_chr2_71448561_71691763 | 71617913 | T | TGTGTTTG others(8): Show |
intron_variant | MODIFIER | HG02717.hp1 HG03471.hp2 HG03579.hp1 |
a0001a0002 | a0001c0007a0001c0034a0002c0021 | a0001c0007t0002a0001c0034t0001a0002c0021t0001 | a0001c0007t0002g0142a0001c0034t0001g0092a0002c0021t0001g0086 | 3 | 192 | 0.0156 | 15 | c.441 others(34): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 40/54 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DYSF_chr2_71461699_71691763 | 71617913 | T | TGTGTTTG others(8): Show |
intron_variant | MODIFIER | HG02717.hp1 HG03471.hp2 HG03579.hp2 |
a0001a0002 | a0001c0007a0001c0037a0002c0021 | a0001c0007t0001a0001c0037t0001a0002c0021t0002 | a0001c0007t0001g0139a0001c0037t0001g0044a0002c0021t0002g0149 | 3 | 208 | 0.0144 | 15 | c.446 others(34): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DYTN_chr2_206646621_206723396 | 206721150 | C | CAATAATA others(8): Show |
upstream_gene_variant | MODIFIER | HG01175.hp1 HG01261.hp1 HG02148.hp1 others(20): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(1): Show | a0001c0001t0001g0344a0001c0001t0001g0345a0001c0001t0001g0346others(19): Show | 23 | 382 | 0.0602 | 15 | c.-28 others(26): Show |
DYTN | ENSG00000232125.5 | transcript | ENST00000452335.2 | protein_coding | 2755 | chr2 | TogoVar | ||||||
DZANK1_chr20_18378367_18472030 | 18465406 | A | AATGTGCA others(8): Show |
intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0341 | 1 | 374 | 0.0027 | 15 | c.-19 others(28): Show |
DZANK1 | ENSG00000089091.17 | transcript | ENST00000699568.1 | protein_coding | 1/20 | chr20 | TogoVar | ||||||
DZIP3_chr3_108584722_108699840 | 108697439 | T | TAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02257.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0017a0001c0001t0002g0021a0001c0001t0002g0022 | 3 | 318 | 0.0094 | 15 | c.*40 others(26): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 2600 | chr3 | TogoVar | ||||||
E2F3_chr6_20396879_20498714 | 20424250 | T | TGTGTGTG others(8): Show |
intron_variant | MODIFIER | HG02055.hp1 HG03927.hp1 HG03927.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0120a0001c0001t0001g0272a0001c0001t0002g0195 | 3 | 336 | 0.0089 | 15 | c.393 others(34): Show |
E2F3 | ENSG00000112242.16 | transcript | ENST00000346618.8 | protein_coding | 1/6 | chr6 | TogoVar | ||||||
E2F5_chr8_85172154_85219518 | 85184824 | C | CAAGGAGA others(8): Show |
intron_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0217 | 1 | 336 | 0.0030 | 15 | c.234 others(32): Show |
E2F5 | ENSG00000133740.11 | transcript | ENST00000416274.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
E2F6_chr2_11439375_11471161 | 11463948 | C | CGGGGGGG others(8): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 366 | 0.0027 | 15 | c.108 others(32): Show |
E2F6 | ENSG00000169016.17 | transcript | ENST00000381525.8 | protein_coding | 1/6 | chr2 | TogoVar | ||||||
E2F6_chr2_11439375_11471161 | 11468851 | A | AATTATAT others(8): Show |
upstream_gene_variant | MODIFIER | HG00738.hp1 HG01069.hp2 HG01074.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0004a0001c0001t0001g0016a0001c0001t0001g0030others(4): Show | 7 | 366 | 0.0191 | 15 | c.-29 others(26): Show |
E2F6 | ENSG00000169016.17 | transcript | ENST00000381525.8 | protein_coding | 2691 | chr2 | TogoVar | ||||||
EAF2_chr3_121830209_121891526 | 121840515 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 318 | 0.0031 | 15 | c.107 others(32): Show |
EAF2 | ENSG00000145088.9 | transcript | ENST00000273668.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EBAG9_chr8_109535173_109570996 | 109538047 | A | ATTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 HG02486.hp1 HG02723.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0001g0037a0001c0001t0001g0134others(2): Show | 6 | 356 | 0.0169 | 15 | c.-24 others(26): Show |
EBAG9 | ENSG00000147654.16 | transcript | ENST00000337573.10 | protein_coding | 2125 | chr8 | TogoVar | ||||||
EBF1_chr5_158690920_159104916 | 159090807 | G | GTAATAAT others(8): Show |
intron_variant | MODIFIER | HG02976.hp2 HG03710.hp2 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0087 | a0001c0001t0012g0021a0001c0001t0087g0193 | 2 | 196 | 0.0102 | 15 | c.411 others(32): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 4/15 | chr5 | TogoVar | ||||||
EBF2_chr8_25836725_26050413 | 25986001 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02258.hp1 HG02280.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0027a0001c0001t0036a0001c0002t0003others(5): Show | a0001c0001t0027g0103a0001c0001t0036g0159a0001c0002t0003g0218others(6): Show | 9 | 220 | 0.0409 | 15 | c.551 others(34): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 6/15 | chr8 | TogoVar | ||||||
EBF2_chr8_25836725_26050413 | 26001385 | T | TGAAGACA others(8): Show |
intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0002 | a0001c0002t0023 | a0001c0002t0023g0057 | 1 | 220 | 0.0046 | 15 | c.551 others(34): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 6/15 | chr8 | TogoVar | ||||||
EBF2_chr8_25836725_26050413 | 26005261 | A | ATAAATAT others(8): Show |
intron_variant | MODIFIER | HG03130.hp1 NA19030.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0005t0001 | a0001c0001t0002g0033a0001c0005t0001g0034 | 2 | 220 | 0.0091 | 15 | c.551 others(34): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 6/15 | chr8 | TogoVar | ||||||
EBF2_chr8_25836725_26050413 | 26005285 | A | ATTATATG others(8): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0195 | 1 | 220 | 0.0046 | 15 | c.551 others(34): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 6/15 | chr8 | TogoVar | ||||||
EBF2_chr8_25836725_26050413 | 26005343 | T | TTATATAT others(8): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02922.hp2 HG02965.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0003a0001c0001t0018a0001c0001t0036others(5): Show | a0001c0001t0003g0208a0001c0001t0018g0006a0001c0001t0036g0159others(5): Show | 8 | 220 | 0.0364 | 15 | c.551 others(34): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 6/15 | chr8 | TogoVar |