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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DYNLT1_chr6_158631474_158649743 | 158636069 | A | ATATATAT others(6): Show |
downstream_gene_variant | MODIFIER | NA18957.hp1 NA19065.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 2 | 396 | 0.0051 | 13 | c.*75 others(22): Show |
DYNLT1 | ENSG00000146425.11 | transcript | ENST00000367089.8 | protein_coding | 404 | chr6 | TogoVar | |||||||
DYNLT1_chr6_158631474_158649743 | 158636069 | A | ATATATAT others(6): Show |
downstream_gene_variant | MODIFIER | HG02040.hp1 NA18989.hp2 NA19063.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0038 |
3 | 396 | 0.0076 | 13 | c.*75 others(22): Show |
DYNLT1 | ENSG00000146425.11 | transcript | ENST00000367089.8 | protein_coding | 404 | chr6 | TogoVar | |||||||
DYNLT1_chr6_158631474_158649743 | 158636070 | T | TATATATA others(6): Show |
downstream_gene_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 396 | 0.0025 | 13 | c.*75 others(22): Show |
DYNLT1 | ENSG00000146425.11 | transcript | ENST00000367089.8 | protein_coding | 403 | chr6 | TogoVar | |||||||
DYNLT2B_chr3_196286219_196323240 | 196317381 | T | TGTGTGTG others(6): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02895.hp1 HG02897.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 4 | 330 | 0.0121 | 13 | c.113 others(28): Show |
DYNLT2B | ENSG00000213123.11 | transcript | ENST00000325318.10 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
DYNLT2B_chr3_196286219_196323240 | 196317484 | T | TGTGTGTG others(6): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 330 | 0.0030 | 13 | c.113 others(28): Show |
DYNLT2B | ENSG00000213123.11 | transcript | ENST00000325318.10 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
DYRK1A_chr21_37361773_37531358 | 37417506 | C | CTTTTTCT others(6): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02818.hp2 |
a0001 | a0001c0001 | a0001c0001t0138a0001c0001t0143 | a0001c0001t0138g0325 a0001c0001t0143g0324 |
2 | 350 | 0.0057 | 13 | c.-76 others(30): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DYRK1A_chr21_37361773_37531358 | 37417529 | C | CTTTTTCT others(6): Show |
intron_variant | MODIFIER | HG02970.hp1 NA18963.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0004a0001c0005t0004 | a0001c0001t0004g0178 a0001c0005t0004g0225 |
2 | 350 | 0.0057 | 13 | c.-76 others(30): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DYRK1A_chr21_37361773_37531358 | 37454085 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02559.hp1 NA18991.hp2 |
a0001 | a0001c0001 | a0001c0001t0144a0001c0001t0172 | a0001c0001t0144g0147 a0001c0001t0172g0244 |
2 | 350 | 0.0057 | 13 | c.11- others(30): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DYRK1A_chr21_37361773_37531358 | 37479600 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0001 | a0001c0001t0103 | a0001c0001t0103g0347 | 1 | 350 | 0.0029 | 13 | c.301 others(30): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DYRK1A_chr21_37361773_37531358 | 37479606 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 350 | 0.0029 | 13 | c.301 others(30): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DYRK1A_chr21_37361773_37531358 | 37479617 | T | TGTTTTTG others(6): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0117 | a0001c0001t0117g0213 | 1 | 350 | 0.0029 | 13 | c.301 others(30): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 4/11 | chr21 | TogoVar | |||||||
DYRK1A_chr21_37361773_37531358 | 37501166 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0295 a0001c0001t0043g0296 |
2 | 350 | 0.0057 | 13 | c.121 others(32): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DYRK4_chr12_4557208_4618875 | 4601876 | T | TGTGTGTG others(6): Show |
intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0095 | 1 | 414 | 0.0024 | 13 | c.112 others(32): Show |
DYRK4 | ENSG00000010219.14 | transcript | ENST00000543431.6 | protein_coding | 10/14 | chr12 | TogoVar | |||||||
DYSF_chr2_71448561_71691763 | 71565246 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0047 | a0001c0047t0002 | a0001c0047t0002g0183 | 1 | 192 | 0.0052 | 13 | c.251 others(32): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 24/54 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DYSF_chr2_71448561_71691763 | 71622130 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02809.hp1 HG02970.hp2 others(2): Show |
a0001 | a0001c0001a0001c0011a0001c0016others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0011t0001others(2): Show | a0001c0001t0001g0069 a0001c0001t0002g0018 a0001c0011t0001g0075 others(2): Show |
5 | 192 | 0.0260 | 13 | c.441 others(32): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 40/54 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DYSF_chr2_71461699_71691763 | 71565246 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0048 | a0001c0048t0002 | a0001c0048t0002g0190 | 1 | 208 | 0.0048 | 13 | c.256 others(32): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 24/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DYSF_chr2_71461699_71691763 | 71622130 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02809.hp2 HG02970.hp2 others(2): Show |
a0001 | a0001c0001a0001c0008a0001c0016others(1): Show | a0001c0001t0001a0001c0008t0001a0001c0016t0001others(1): Show | a0001c0001t0001g0037 a0001c0001t0001g0119 a0001c0008t0001g0126 others(2): Show |
5 | 208 | 0.0240 | 13 | c.452 others(32): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DYTN_chr2_206646621_206723396 | 206659484 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0014 | a0014c0015 | a0014c0015t0002 | a0014c0015t0002g0166 | 1 | 382 | 0.0026 | 13 | c.163 others(32): Show |
DYTN | ENSG00000232125.5 | transcript | ENST00000452335.2 | protein_coding | 11/11 | chr2 | TogoVar | |||||||
DYTN_chr2_206646621_206723396 | 206717043 | A | ACACACAC others(6): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0320 | 1 | 382 | 0.0026 | 13 | c.19+ others(28): Show |
DYTN | ENSG00000232125.5 | transcript | ENST00000452335.2 | protein_coding | 1/11 | chr2 | TogoVar | |||||||
DZIP1_chr13_95573202_95649706 | 95603306 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0162 | 1 | 382 | 0.0026 | 13 | c.147 others(32): Show |
DZIP1 | ENSG00000134874.18 | transcript | ENST00000376829.7 | protein_coding | 14/22 | chr13 | TogoVar | |||||||
E2F6_chr2_11439375_11471161 | 11463948 | C | CGGGGGGG others(6): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0141 | 1 | 366 | 0.0027 | 13 | c.108 others(30): Show |
E2F6 | ENSG00000169016.17 | transcript | ENST00000381525.8 | protein_coding | 1/6 | chr2 | TogoVar | |||||||
E2F6_chr2_11439375_11471161 | 11468851 | A | AATTATAT others(6): Show |
upstream_gene_variant | MODIFIER | HG00609.hp1 HG00741.hp1 HG01099.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0016 others(9): Show |
13 | 366 | 0.0355 | 13 | c.-29 others(24): Show |
E2F6 | ENSG00000169016.17 | transcript | ENST00000381525.8 | protein_coding | 2691 | chr2 | TogoVar | |||||||
E2F6_chr2_11439375_11471161 | 11468853 | A | ATATATAT others(6): Show |
upstream_gene_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0052 | 1 | 366 | 0.0027 | 13 | c.-29 others(24): Show |
E2F6 | ENSG00000169016.17 | transcript | ENST00000381525.8 | protein_coding | 2693 | chr2 | TogoVar | |||||||
EAF2_chr3_121830209_121891526 | 121831179 | A | ATTTTTTT others(6): Show |
upstream_gene_variant | MODIFIER | HG02027.hp2 HG02723.hp2 HG02895.hp2 others(6): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0004c0006 | a0001c0001t0001a0002c0003t0001a0004c0006t0001 | a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0067 others(5): Show |
9 | 318 | 0.0283 | 13 | c.-41 others(24): Show |
EAF2 | ENSG00000145088.9 | transcript | ENST00000273668.7 | protein_coding | 4029 | chr3 | TogoVar | |||||||
EAF2_chr3_121830209_121891526 | 121840515 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 318 | 0.0031 | 13 | c.107 others(30): 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(6): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(51): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(36): Show |
54 | 356 | 0.1517 | 13 | c.-24 others(24): Show |
EBAG9 | ENSG00000147654.16 | transcript | ENST00000337573.10 | protein_coding | 2125 | chr8 | TogoVar | |||||||
EBF1_chr5_158690920_159104916 | 158969916 | G | GAAAGAAA others(6): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0067 | 1 | 196 | 0.0051 | 13 | c.554 others(34): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
EBF1_chr5_158690920_159104916 | 159006647 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01515.hp2 NA18969.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0010a0001c0001t0054a0001c0002t0091 | a0001c0001t0010g0082 a0001c0001t0054g0050 a0001c0002t0091g0182 |
3 | 196 | 0.0153 | 13 | c.554 others(32): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
EBF2_chr8_25836725_26050413 | 25986001 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00438.hp2 others(19): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0107 a0001c0001t0002g0062 a0001c0001t0002g0124 others(19): Show |
22 | 220 | 0.1000 | 13 | c.551 others(32): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 6/15 | chr8 | TogoVar | |||||||
EBF2_chr8_25836725_26050413 | 26005277 | A | AATATATA others(6): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0013 | 1 | 220 | 0.0046 | 13 | c.551 others(32): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 6/15 | chr8 | TogoVar | |||||||
EBI3_chr19_4224523_4242528 | 4227017 | C | CTTTTTTT others(6): Show |
upstream_gene_variant | MODIFIER | NA18522.hp1 NA19240.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0011 a0002c0002t0002g0225 |
2 | 438 | 0.0046 | 13 | c.-25 others(24): Show |
EBI3 | ENSG00000105246.6 | transcript | ENST00000221847.6 | protein_coding | 2505 | chr19 | TogoVar | |||||||
EBI3_chr19_4224523_4242528 | 4236518 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02723.hp1 HG02896.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 a0001c0001t0001g0147 a0001c0001t0001g0149 |
5 | 438 | 0.0114 | 13 | c.538 others(28): Show |
EBI3 | ENSG00000105246.6 | transcript | ENST00000221847.6 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
EBLN1_chr10_22203475_22223015 | 22209838 | C | CCAGGTGG others(6): Show |
frameshift_variant | HIGH | HG01167.hp2 | a0008 | a0008c0011 | a0008c0011t0002 | a0008c0011t0002g0062 | 1 | 432 | 0.0023 | 13 | c.145 others(20): Show |
p.Gly others(4): Show |
EBLN1 | ENSG00000223601.3 | transcript | ENST00000422359.3 | protein_coding | 3/3 | 413/1777 | 145/1101 | 49/366 | chr10 | TogoVar | |||
EBNA1BP2_chr1_43159184_43177290 | 43163613 | C | CAAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG02630.hp2 HG02965.hp2 HG02970.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0009 a0002c0002t0002g0017 |
5 | 392 | 0.0128 | 13 | c.*82 others(22): Show |
EBNA1BP2 | ENSG00000117395.13 | transcript | ENST00000236051.3 | protein_coding | 570 | chr1 | TogoVar | |||||||
EBPL_chr13_49655674_49696486 | 49679006 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01175.hp2 HG01891.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 a0001c0001t0001g0043 a0001c0001t0001g0079 others(14): Show |
19 | 410 | 0.0463 | 13 | c.172 others(30): Show |
EBPL | ENSG00000123179.14 | transcript | ENST00000242827.11 | protein_coding | 1/3 | chr13 | TogoVar | |||||||
EBPL_chr13_49655674_49696486 | 49691330 | A | AGGCGCAG others(6): Show |
frameshift_variant | HIGH | NA19062.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0060 | 1 | 410 | 0.0024 | 13 | c.82_ others(18): Show |
p.Leu others(4): Show |
EBPL | ENSG00000123179.14 | transcript | ENST00000242827.11 | protein_coding | 1/4 | 156/977 | 94/621 | 32/206 | chr13 | TogoVar | |||
ECD_chr10_73128668_73173008 | 73152914 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01978.hp1 HG02055.hp1 others(6): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0002a0002c0003t0002 | a0002c0002t0002g0052 a0002c0002t0002g0077 a0002c0002t0002g0078 others(6): Show |
9 | 272 | 0.0331 | 13 | c.784 others(28): Show |
ECD | ENSG00000122882.11 | transcript | ENST00000372979.9 | protein_coding | 6/13 | chr10 | TogoVar | |||||||
ECHDC1_chr6_127283712_127348609 | 127307648 | G | GAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00733.hp2 HG02602.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 a0001c0001t0001g0190 a0001c0001t0001g0191 others(1): Show |
5 | 358 | 0.0140 | 13 | c.497 others(30): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | TogoVar | |||||||
ECM2_chr9_92490315_92540990 | 92532015 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00673.hp2 NA18955.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0134 a0001c0002t0002g0135 a0001c0002t0002g0149 others(2): Show |
5 | 400 | 0.0125 | 13 | c.-28 others(30): Show |
ECM2 | ENSG00000106823.13 | transcript | ENST00000344604.10 | protein_coding | 1/9 | chr9 | TogoVar | |||||||
ECPAS_chr9_111355685_111489383 | 111407403 | G | GAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02040.hp2 NA19062.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 a0001c0001t0001g0211 |
2 | 354 | 0.0057 | 13 | c.265 others(32): Show |
ECPAS | ENSG00000136813.15 | transcript | ENST00000684092.1 | protein_coding | 24/49 | chr9 | TogoVar | |||||||
ECRG4_chr2_106060688_106083155 | 106067059 | C | CGGGGCGG others(6): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01071.hp1 HG01978.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 a0001c0001t0001g0227 a0001c0001t0001g0228 others(4): Show |
7 | 434 | 0.0161 | 13 | c.79+ others(28): Show |
ECRG4 | ENSG00000119147.10 | transcript | ENST00000238044.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ECRG4_chr2_106060688_106083155 | 106067059 | C | CGGGGGGG others(6): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 434 | 0.0023 | 13 | c.79+ others(28): Show |
ECRG4 | ENSG00000119147.10 | transcript | ENST00000238044.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ECRG4_chr2_106060688_106083155 | 106071322 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0071 | 1 | 434 | 0.0023 | 13 | c.80- others(26): Show |
ECRG4 | ENSG00000119147.10 | transcript | ENST00000238044.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ECSCR_chr5_139443560_139467743 | 139458500 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01069.hp1 HG02523.hp2 HG02818.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 others(2): Show |
5 | 369 | 0.0136 | 13 | c.62- others(26): Show |
ECSCR | ENSG00000249751.4 | transcript | ENST00000618155.3 | protein_coding | 1/9 | chr5 | TogoVar | |||||||
ECSCR_chr5_139443560_139467743 | 139458500 | C | CAACAAAA others(6): Show |
intron_variant | MODIFIER | HG01993.hp1 HG02922.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 a0001c0001t0001g0130 |
3 | 369 | 0.0081 | 13 | c.62- others(26): Show |
ECSCR | ENSG00000249751.4 | transcript | ENST00000618155.3 | protein_coding | 1/9 | chr5 | TogoVar | |||||||
ECSIT_chr19_11500929_11534134 | 11508383 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01081.hp1 HG02809.hp2 HG02895.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0028 a0001c0001t0001g0061 a0001c0001t0001g0064 others(2): Show |
6 | 312 | 0.0192 | 13 | c.739 others(28): Show |
ECSIT | ENSG00000130159.15 | transcript | ENST00000270517.12 | protein_coding | 4/7 | chr19 | TogoVar | |||||||
ECT2L_chr6_138791087_138909070 | 138890492 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01257.hp2 HG01258.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0006a0003c0004t0004 | a0001c0001t0001g0051 a0001c0001t0001g0199 a0001c0001t0001g0266 others(3): Show |
6 | 326 | 0.0184 | 13 | c.241 others(32): Show |
ECT2L | ENSG00000203734.13 | transcript | ENST00000541398.7 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ECT2L_chr6_138791087_138909070 | 138907313 | A | AAGTGTGT others(6): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG00733.hp1 others(46): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0009a0002c0002others(6): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(15): Show | a0001c0001t0002g0048 a0001c0001t0002g0098 a0001c0001t0002g0099 others(46): Show |
49 | 326 | 0.1503 | 13 | c.*46 others(24): Show |
ECT2L | ENSG00000203734.13 | transcript | ENST00000541398.7 | protein_coding | 3244 | chr6 | TogoVar | |||||||
ECT2_chr3_172745726_172826474 | 172823310 | C | CAACCTAA others(6): Show |
downstream_gene_variant | MODIFIER | HG01255.hp1 HG02486.hp2 HG02572.hp2 others(21): Show |
a0001a0004 | a0001c0001a0001c0006a0004c0005 | a0001c0001t0004a0001c0006t0004a0004c0005t0004 | a0001c0001t0004g0030 a0001c0001t0004g0107 a0001c0001t0004g0108 others(20): Show |
24 | 318 | 0.0755 | 13 | c.*30 others(24): Show |
ECT2 | ENSG00000114346.14 | transcript | ENST00000392692.8 | protein_coding | 1837 | chr3 | TogoVar | |||||||
EDARADD_chr1_236389286_236489930 | 236405785 | C | CTTTCTTT others(6): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0026 | 1 | 294 | 0.0034 | 13 | c.62- others(28): Show |
EDARADD | ENSG00000186197.15 | transcript | ENST00000334232.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |