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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DYNC2I2_chr9_128628653_128661847 | 128655335 | T | TAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG00609.hp2 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 a0001c0001t0001g0184 |
2 | 368 | 0.0054 | 24 | c.186 others(41): Show |
DYNC2I2 | ENSG00000119333.12 | transcript | ENST00000372715.7 | protein_coding | 1/8 | chr9 | TogoVar | |||||||
DYNLT1_chr6_158631474_158649743 | 158636051 | G | GTATATAT others(17): Show |
downstream_gene_variant | MODIFIER | HG03927.hp1 NA18977.hp1 NA19006.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0039 |
3 | 396 | 0.0076 | 24 | c.*77 others(33): Show |
DYNLT1 | ENSG00000146425.11 | transcript | ENST00000367089.8 | protein_coding | 422 | chr6 | TogoVar | |||||||
DYNLT1_chr6_158631474_158649743 | 158636069 | A | ATATATAT others(17): Show |
downstream_gene_variant | MODIFIER | NA18951.hp2 NA18952.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 396 | 0.0051 | 24 | c.*75 others(33): Show |
DYNLT1 | ENSG00000146425.11 | transcript | ENST00000367089.8 | protein_coding | 404 | chr6 | TogoVar | |||||||
DYNLT1_chr6_158631474_158649743 | 158636069 | A | ATATATAT others(17): Show |
downstream_gene_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 396 | 0.0025 | 24 | c.*75 others(33): Show |
DYNLT1 | ENSG00000146425.11 | transcript | ENST00000367089.8 | protein_coding | 404 | chr6 | TogoVar | |||||||
DYNLT1_chr6_158631474_158649743 | 158636069 | A | ATATATAT others(17): Show |
downstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 396 | 0.0025 | 24 | c.*75 others(33): Show |
DYNLT1 | ENSG00000146425.11 | transcript | ENST00000367089.8 | protein_coding | 404 | chr6 | TogoVar | |||||||
DYNLT1_chr6_158631474_158649743 | 158636069 | A | ATATATAT others(17): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 HG02083.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 396 | 0.0051 | 24 | c.*75 others(33): Show |
DYNLT1 | ENSG00000146425.11 | transcript | ENST00000367089.8 | protein_coding | 404 | chr6 | TogoVar | |||||||
DYNLT1_chr6_158631474_158649743 | 158636069 | A | ATATATAT others(17): Show |
downstream_gene_variant | MODIFIER | NA18993.hp2 NA19012.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 396 | 0.0051 | 24 | c.*75 others(33): Show |
DYNLT1 | ENSG00000146425.11 | transcript | ENST00000367089.8 | protein_coding | 404 | chr6 | TogoVar | |||||||
DYNLT2B_chr3_196286219_196323240 | 196317389 | T | TGTGTGTT others(17): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00621.hp2 HG00741.hp1 others(9): Show |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0001a0003c0002t0001 | a0001c0001t0001g0036 a0001c0001t0001g0164 a0001c0001t0001g0165 others(8): Show |
12 | 330 | 0.0364 | 24 | c.113 others(39): Show |
DYNLT2B | ENSG00000213123.11 | transcript | ENST00000325318.10 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
DYNLT2B_chr3_196286219_196323240 | 196317389 | T | TGTGTGTT others(17): Show |
intron_variant | MODIFIER | HG02630.hp2 NA19030.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 |
3 | 330 | 0.0091 | 24 | c.113 others(39): Show |
DYNLT2B | ENSG00000213123.11 | transcript | ENST00000325318.10 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
DYNLT2B_chr3_196286219_196323240 | 196317392 | G | GTGTTGTG others(17): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02486.hp2 HG02818.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 5 | 330 | 0.0152 | 24 | c.113 others(39): Show |
DYNLT2B | ENSG00000213123.11 | transcript | ENST00000325318.10 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
DYRK1A_chr21_37361773_37531358 | 37417506 | C | CTTTTCTT others(17): Show |
intron_variant | MODIFIER | HG02004.hp1 HG02273.hp1 HG02895.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0017a0001c0001t0076others(3): Show | a0001c0001t0002g0180 a0001c0001t0017g0204 a0001c0001t0076g0205 others(3): Show |
6 | 350 | 0.0171 | 24 | c.-76 others(41): 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(17): Show |
intron_variant | MODIFIER | HG02056.hp1 HG02293.hp2 NA18968.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0064others(1): Show | a0001c0001t0001g0050 a0001c0001t0001g0072 a0001c0001t0001g0073 others(3): Show |
6 | 350 | 0.0171 | 24 | c.10+ others(41): 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(17): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0122 | a0001c0001t0122g0312 | 1 | 350 | 0.0029 | 24 | c.11- others(41): 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(17): Show |
intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 350 | 0.0029 | 24 | c.301 others(41): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DYRK4_chr12_4557208_4618875 | 4575298 | A | ATTGTGTG others(17): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00621.hp2 HG00741.hp2 others(24): Show |
a0001a0003a0011 | a0001c0001a0001c0003a0001c0008others(4): Show | a0001c0001t0001a0001c0003t0001a0001c0008t0001others(4): Show | a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0083 others(22): Show |
27 | 414 | 0.0652 | 24 | c.132 others(41): Show |
DYRK4 | ENSG00000010219.14 | transcript | ENST00000543431.6 | protein_coding | 2/14 | chr12 | TogoVar | |||||||
DYRK4_chr12_4557208_4618875 | 4575298 | A | ATTTTGTG others(17): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0102 | 1 | 414 | 0.0024 | 24 | c.132 others(41): Show |
DYRK4 | ENSG00000010219.14 | transcript | ENST00000543431.6 | protein_coding | 2/14 | chr12 | TogoVar | |||||||
DYSF_chr2_71448561_71691763 | 71481722 | C | CCATCCAT others(17): Show |
intron_variant | MODIFIER | HG00735.hp1 NA18948.hp2 NA18969.hp2 others(4): Show |
a0001 | a0001c0001a0001c0026 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0043 a0001c0001t0001g0079 a0001c0001t0002g0156 others(4): Show |
7 | 192 | 0.0365 | 24 | c.145 others(39): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 2/54 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DYSF_chr2_71448561_71691763 | 71617879 | G | GGTGTGTG others(17): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00673.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0058 a0001c0002t0002g0174 |
2 | 192 | 0.0104 | 24 | c.441 others(43): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 40/54 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DYSF_chr2_71461699_71691763 | 71481722 | C | CCATCCAT others(17): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02257.hp2 NA18948.hp1 others(8): Show |
a0001a0031 | a0001c0001a0001c0008a0001c0026others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0130 a0001c0001t0001g0137 a0001c0001t0002g0154 others(8): Show |
11 | 208 | 0.0529 | 24 | c.148 others(39): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 2/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DYSF_chr2_71461699_71691763 | 71617879 | G | GGTGTGTG others(17): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00673.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0099 a0001c0002t0002g0182 |
2 | 208 | 0.0096 | 24 | c.446 others(43): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DZIP3_chr3_108584722_108699840 | 108622880 | C | CTCTCTCT others(17): Show |
intron_variant | MODIFIER | HG01109.hp2 NA18957.hp1 NA18971.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 a0001c0001t0001g0081 a0001c0001t0001g0082 others(2): Show |
5 | 318 | 0.0157 | 24 | c.376 others(41): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 5/32 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DZIP3_chr3_108584722_108699840 | 108622880 | C | CTCTCTCT others(17): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0230 | 1 | 318 | 0.0031 | 24 | c.376 others(41): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 5/32 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DZIP3_chr3_108584722_108699840 | 108631054 | C | CACACACA others(17): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0261 | 1 | 318 | 0.0031 | 24 | c.696 others(41): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 8/32 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DZIP3_chr3_108584722_108699840 | 108631055 | A | ACACACAC others(17): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0241 | 1 | 318 | 0.0031 | 24 | c.696 others(41): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 8/32 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DZIP3_chr3_108584722_108699840 | 108631055 | A | ACACACAC others(17): Show |
intron_variant | MODIFIER | HG02683.hp2 HG03927.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0231 a0001c0002t0001g0245 |
2 | 318 | 0.0063 | 24 | c.696 others(41): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 8/32 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DZIP3_chr3_108584722_108699840 | 108631055 | A | ACACACAC others(17): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0250 | 1 | 318 | 0.0031 | 24 | c.696 others(41): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 8/32 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DZIP3_chr3_108584722_108699840 | 108631055 | A | ACACACAC others(17): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03834.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0304 a0001c0002t0001g0238 |
2 | 318 | 0.0063 | 24 | c.696 others(41): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 8/32 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DZIP3_chr3_108584722_108699840 | 108631055 | A | ACACACAC others(17): Show |
intron_variant | MODIFIER | NA18986.hp2 NA19077.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 a0001c0001t0001g0088 |
2 | 318 | 0.0063 | 24 | c.696 others(41): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 8/32 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DZIP3_chr3_108584722_108699840 | 108631055 | A | ACACACAC others(17): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0003 | a0003c0005 | a0003c0005t0005 | a0003c0005t0005g0112 | 1 | 318 | 0.0031 | 24 | c.696 others(41): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 8/32 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DZIP3_chr3_108584722_108699840 | 108631055 | A | ACACACTC others(17): Show |
intron_variant | MODIFIER | HG00733.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 a0001c0001t0001g0184 |
2 | 318 | 0.0063 | 24 | c.696 others(41): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 8/32 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
E2F5_chr8_85172154_85219518 | 85180511 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0199 | 1 | 336 | 0.0030 | 24 | c.234 others(41): Show |
E2F5 | ENSG00000133740.11 | transcript | ENST00000416274.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
E2F6_chr2_11439375_11471161 | 11466855 | G | GCCTGCCT others(17): Show |
upstream_gene_variant | MODIFIER | HG02818.hp2 HG03130.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008 | a0001c0001t0003g0007 a0001c0001t0003g0182 a0001c0001t0008g0057 |
3 | 366 | 0.0082 | 24 | c.-97 others(33): Show |
E2F6 | ENSG00000169016.17 | transcript | ENST00000381525.8 | protein_coding | 695 | chr2 | TogoVar | |||||||
E2F6_chr2_11439375_11471161 | 11466855 | G | GCCTGCCT others(17): Show |
upstream_gene_variant | MODIFIER | HG02622.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0058 a0001c0001t0008g0059 |
2 | 366 | 0.0055 | 24 | c.-97 others(33): Show |
E2F6 | ENSG00000169016.17 | transcript | ENST00000381525.8 | protein_coding | 695 | chr2 | TogoVar | |||||||
E2F6_chr2_11439375_11471161 | 11466855 | G | GCCTGCCT others(17): Show |
upstream_gene_variant | MODIFIER | HG01167.hp1 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0055 a0001c0001t0010g0056 |
2 | 366 | 0.0055 | 24 | c.-97 others(33): Show |
E2F6 | ENSG00000169016.17 | transcript | ENST00000381525.8 | protein_coding | 695 | chr2 | TogoVar | |||||||
E2F6_chr2_11439375_11471161 | 11468855 | A | AAAAAAAA others(17): Show |
upstream_gene_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0155 | 1 | 366 | 0.0027 | 24 | c.-29 others(35): Show |
E2F6 | ENSG00000169016.17 | transcript | ENST00000381525.8 | protein_coding | 2695 | chr2 | TogoVar | |||||||
E2F6_chr2_11439375_11471161 | 11468855 | A | AAAAAAAA others(17): Show |
upstream_gene_variant | MODIFIER | NA18944.hp2 NA18980.hp1 NA19082.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 a0001c0001t0002g0168 |
3 | 366 | 0.0082 | 24 | c.-29 others(35): Show |
E2F6 | ENSG00000169016.17 | transcript | ENST00000381525.8 | protein_coding | 2695 | chr2 | TogoVar | |||||||
EBF1_chr5_158690920_159104916 | 158883350 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02965.hp1 HG03098.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0011a0001c0001t0032a0001c0001t0052others(1): Show | a0001c0001t0011g0120 a0001c0001t0032g0006 a0001c0001t0052g0045 others(1): Show |
4 | 196 | 0.0204 | 24 | c.555 others(43): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
EBF2_chr8_25836725_26050413 | 25838165 | C | CAAAAAAA others(17): Show |
downstream_gene_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0005 | a0001c0005t0010 | a0001c0005t0010g0008 | 1 | 220 | 0.0046 | 24 | c.*64 others(35): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 3559 | chr8 | TogoVar | |||||||
EBI3_chr19_4224523_4242528 | 4236518 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | NA18952.hp1 NA18971.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 a0001c0001t0001g0175 |
2 | 438 | 0.0046 | 24 | c.538 others(39): Show |
EBI3 | ENSG00000105246.6 | transcript | ENST00000221847.6 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
EBLN2_chr3_73056659_73068337 | 73066239 | C | CATACATA others(17): Show |
downstream_gene_variant | MODIFIER | HG02080.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0000 | 1 | 428 | 0.0023 | 24 | c.*33 others(35): Show |
EBLN2 | ENSG00000255423.1 | transcript | ENST00000533473.1 | protein_coding | 2903 | chr3 | TogoVar | |||||||
EBPL_chr13_49655674_49696486 | 49673962 | T | TACACACA others(17): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0289 | 1 | 410 | 0.0024 | 24 | c.172 others(41): Show |
EBPL | ENSG00000123179.14 | transcript | ENST00000242827.11 | protein_coding | 1/3 | chr13 | TogoVar | |||||||
ECHDC1_chr6_127283712_127348609 | 127342777 | C | CCCTGTAT others(17): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 358 | 0.0028 | 24 | c.-3+ others(37): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | TogoVar | |||||||
ECHS1_chr10_133357485_133378354 | 133369210 | G | GCTGGGCA others(17): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0007 | a0007c0012 | a0007c0012t0001 | a0007c0012t0001g0105 | 1 | 354 | 0.0028 | 24 | c.415 others(39): Show |
ECHS1 | ENSG00000127884.5 | transcript | ENST00000368547.4 | protein_coding | 3/7 | chr10 | TogoVar | |||||||
ECHS1_chr10_133357485_133378354 | 133373698 | C | CGCCCGCC others(17): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 HG02723.hp1 HG03041.hp1 others(3): Show |
a0002a0003a0004 | a0002c0002a0003c0003a0004c0005 | a0002c0002t0001a0003c0003t0002a0004c0005t0003 | a0002c0002t0001g0003 a0002c0002t0001g0151 a0002c0002t0001g0156 others(3): Show |
6 | 354 | 0.0170 | 24 | c.-36 others(33): Show |
ECHS1 | ENSG00000127884.5 | transcript | ENST00000368547.4 | protein_coding | 345 | chr10 | TogoVar | |||||||
ECM2_chr9_92490315_92540990 | 92533328 | A | AAAAAATA others(17): Show |
intron_variant | MODIFIER | HG02615.hp2 NA19056.hp2 |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0001a0002c0007t0001 | a0001c0001t0001g0252 a0002c0007t0001g0326 |
2 | 400 | 0.0050 | 24 | c.-28 others(41): Show |
ECM2 | ENSG00000106823.13 | transcript | ENST00000344604.10 | protein_coding | 1/9 | chr9 | TogoVar | |||||||
ECM2_chr9_92490315_92540990 | 92533328 | A | AAAATATA others(17): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0324 | 1 | 400 | 0.0025 | 24 | c.-28 others(41): Show |
ECM2 | ENSG00000106823.13 | transcript | ENST00000344604.10 | protein_coding | 1/9 | chr9 | TogoVar | |||||||
ECM2_chr9_92490315_92540990 | 92533328 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0323 | 1 | 400 | 0.0025 | 24 | c.-28 others(41): Show |
ECM2 | ENSG00000106823.13 | transcript | ENST00000344604.10 | protein_coding | 1/9 | chr9 | TogoVar | |||||||
ECPAS_chr9_111355685_111489383 | 111443473 | A | ACTCCTGA others(17): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00597.hp1 others(54): Show |
a0002a0003a0009others(1): Show | a0002c0003a0003c0005a0009c0016others(1): Show | a0002c0003t0001a0002c0003t0003a0003c0005t0002others(2): Show | a0002c0003t0001g0006 a0002c0003t0001g0251 a0002c0003t0001g0264 others(54): Show |
57 | 354 | 0.1610 | 24 | c.270 others(39): Show |
ECPAS | ENSG00000136813.15 | transcript | ENST00000684092.1 | protein_coding | 4/49 | chr9 | TogoVar | |||||||
ECSCR_chr5_139443560_139467743 | 139446441 | C | CTCCTTCC others(17): Show |
downstream_gene_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 369 | 0.0027 | 24 | c.*24 others(35): Show |
ECSCR | ENSG00000249751.4 | transcript | ENST00000618155.3 | protein_coding | 2118 | chr5 | TogoVar | |||||||
ECT2L_chr6_138791087_138909070 | 138873872 | C | CTCTGTGT others(17): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0262 | 1 | 326 | 0.0031 | 24 | c.157 others(43): Show |
ECT2L | ENSG00000203734.13 | transcript | ENST00000541398.7 | protein_coding | 13/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |