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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DYNC1LI1_chr3_32520974_32575858 | 32532480 | A | ATGTGTAT others(30): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0059 | 1 | 275 | 0.0036 | 37 | c.108 others(54): Show |
DYNC1LI1 | ENSG00000144635.9 | transcript | ENST00000273130.9 | protein_coding | 8/12 | chr3 | TogoVar | |||||||
DYNC1LI1_chr3_32520974_32575858 | 32537940 | A | ATATATAT others(30): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0272 | 1 | 314 | 0.0032 | 37 | c.739 others(52): Show |
DYNC1LI1 | ENSG00000144635.9 | transcript | ENST00000273130.9 | protein_coding | 5/12 | chr3 | TogoVar | |||||||
DZIP3_chr3_108584722_108699840 | 108633595 | A | ATACTTCT others(30): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00544.hp2 others(74): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(2): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(74): Show |
77 | 316 | 0.2437 | 37 | c.816 others(52): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 9/32 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DZIP3_chr3_108584722_108699840 | 108633875 | A | ATCTCTCT others(30): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01261.hp2 HG04184.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 others(1): Show |
4 | 289 | 0.0138 | 37 | c.816 others(52): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 9/32 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DZIP3_chr3_108584722_108699840 | 108633875 | A | ATCTCTCT others(30): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0207 | 1 | 286 | 0.0035 | 37 | c.816 others(52): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 9/32 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
E2F2_chr1_23501438_23536233 | 23504406 | G | GCCAGCCG others(30): Show |
downstream_gene_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006 | 1 | 394 | 0.0025 | 37 | c.*54 others(48): Show |
E2F2 | ENSG00000007968.7 | transcript | ENST00000361729.3 | protein_coding | 2031 | chr1 | TogoVar | |||||||
E2F2_chr1_23501438_23536233 | 23504409 | A | AGCCGCCC others(30): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00438.hp1 others(232): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0244 others(155): Show |
235 | 394 | 0.5964 | 37 | c.*54 others(48): Show |
E2F2 | ENSG00000007968.7 | transcript | ENST00000361729.3 | protein_coding | 2028 | chr1 | TogoVar | |||||||
E2F6_chr2_11439375_11471161 | 11468855 | A | AAAAAAAA others(30): Show |
upstream_gene_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 117 | 0.0085 | 37 | c.-29 others(48): Show |
E2F6 | ENSG00000169016.17 | transcript | ENST00000381525.8 | protein_coding | 2695 | chr2 | TogoVar | |||||||
ECPAS_chr9_111355685_111489383 | 111387822 | G | GTCTCACT others(30): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(222): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0013a0002c0002others(10): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0010others(15): Show | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0149 others(216): Show |
225 | 339 | 0.6637 | 37 | c.344 others(56): Show |
ECPAS | ENSG00000136813.15 | transcript | ENST00000684092.1 | protein_coding | 31/49 | chr9 | TogoVar | |||||||
ECSCR_chr5_139443560_139467743 | 139446475 | T | TTCTTTCT others(30): Show |
downstream_gene_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 353 | 0.0028 | 37 | c.*24 others(48): Show |
ECSCR | ENSG00000249751.4 | transcript | ENST00000618155.3 | protein_coding | 2084 | chr5 | TogoVar | |||||||
ECSCR_chr5_139443560_139467743 | 139446478 | T | TTTCTTTC others(30): Show |
downstream_gene_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 367 | 0.0027 | 37 | c.*24 others(48): Show |
ECSCR | ENSG00000249751.4 | transcript | ENST00000618155.3 | protein_coding | 2081 | chr5 | TogoVar | |||||||
EDC3_chr15_74625558_74701024 | 74668765 | A | AGAAAGAA others(30): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0185 | 1 | 284 | 0.0035 | 37 | c.484 others(54): Show |
EDC3 | ENSG00000179151.13 | transcript | ENST00000315127.9 | protein_coding | 3/6 | chr15 | TogoVar | |||||||
EDC4_chr16_67868052_67889499 | 67872928 | C | CGTGGGAC others(30): Show |
upstream_gene_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0037 | 1 | 238 | 0.0042 | 37 | c.-33 others(46): Show |
EDC4 | ENSG00000038358.15 | transcript | ENST00000358933.10 | protein_coding | 123 | chr16 | TogoVar | |||||||
EDIL3_chr5_83935554_84389880 | 84132384 | A | ATATTTTA others(30): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 HG03540.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003a0001c0002t0005 | a0001c0001t0001g0121 a0001c0002t0003g0051 a0001c0002t0005g0032 others(1): Show |
4 | 154 | 0.0260 | 37 | c.469 others(54): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 5/10 | chr5 | TogoVar | |||||||
EDIL3_chr5_83935554_84389880 | 84132411 | C | CATATATT others(30): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 85 | 0.0118 | 37 | c.469 others(54): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 5/10 | chr5 | TogoVar | |||||||
EDIL3_chr5_83935554_84389880 | 84132448 | C | CATATATT others(30): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0060 | 1 | 117 | 0.0085 | 37 | c.469 others(54): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 5/10 | chr5 | TogoVar | |||||||
EDIL3_chr5_83935554_84389880 | 84132458 | G | GTATTTTA others(30): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 10 | 0.1000 | 37 | c.469 others(54): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 5/10 | chr5 | TogoVar | |||||||
EDIL3_chr5_83935554_84389880 | 84132458 | G | GTATTTTA others(30): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(96): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0019 others(96): Show |
99 | 108 | 0.9167 | 37 | c.469 others(54): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 5/10 | chr5 | TogoVar | |||||||
EDIL3_chr5_83935554_84389880 | 84132485 | T | TATATATT others(30): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01261.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0114 a0001c0001t0003g0125 |
2 | 156 | 0.0128 | 37 | c.469 others(54): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 5/10 | chr5 | TogoVar | |||||||
EEF1AKMT2_chr10_124752834_124796887 | 124769233 | A | AAAAAAAA others(30): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0070 | 1 | 184 | 0.0054 | 37 | c.400 others(54): Show |
EEF1AKMT2 | ENSG00000203791.15 | transcript | ENST00000368836.7 | protein_coding | 4/6 | chr10 | TogoVar | |||||||
EEF1AKMT2_chr10_124752834_124796887 | 124769233 | A | AAAAAAAA others(30): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0082 | 1 | 184 | 0.0054 | 37 | c.400 others(54): Show |
EEF1AKMT2 | ENSG00000203791.15 | transcript | ENST00000368836.7 | protein_coding | 4/6 | chr10 | TogoVar | |||||||
EEF1AKMT2_chr10_124752834_124796887 | 124769233 | A | AAAAAAAA others(30): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0027 a0001c0001t0002g0031 |
2 | 185 | 0.0108 | 37 | c.400 others(54): Show |
EEF1AKMT2 | ENSG00000203791.15 | transcript | ENST00000368836.7 | protein_coding | 4/6 | chr10 | TogoVar | |||||||
EEF1AKMT2_chr10_124752834_124796887 | 124769233 | A | AAAAAAAA others(30): Show |
intron_variant | MODIFIER | HG03710.hp2 HG04204.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0018 | a0001c0001t0003g0021 a0001c0001t0018g0018 |
2 | 185 | 0.0108 | 37 | c.400 others(54): Show |
EEF1AKMT2 | ENSG00000203791.15 | transcript | ENST00000368836.7 | protein_coding | 4/6 | chr10 | TogoVar | |||||||
EEF1AKMT2_chr10_124752834_124796887 | 124769233 | A | AAAAAAAA others(30): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0131 | 1 | 184 | 0.0054 | 37 | c.400 others(54): Show |
EEF1AKMT2 | ENSG00000203791.15 | transcript | ENST00000368836.7 | protein_coding | 4/6 | chr10 | TogoVar | |||||||
EEFSEC_chr3_128148481_128413646 | 128152902 | C | CCCCCGCC others(30): Show |
upstream_gene_variant | MODIFIER | HG01070.hp2 HG01496.hp2 HG02615.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 a0001c0001t0001g0238 a0001c0001t0001g0242 others(2): Show |
5 | 225 | 0.0222 | 37 | c.-60 others(46): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 578 | chr3 | TogoVar | |||||||
EEFSEC_chr3_128148481_128413646 | 128152902 | C | CCCCCGCC others(30): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 HG02148.hp1 HG02273.hp1 others(5): Show |
a0001 | a0001c0002a0001c0008 | a0001c0002t0001a0001c0008t0001 | a0001c0002t0001g0007 a0001c0002t0001g0017 a0001c0002t0001g0023 others(5): Show |
8 | 228 | 0.0351 | 37 | c.-60 others(46): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 578 | chr3 | TogoVar | |||||||
EEFSEC_chr3_128148481_128413646 | 128152902 | C | CCCCCGCC others(30): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 NA20300.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0205 a0001c0003t0001g0206 |
2 | 222 | 0.0090 | 37 | c.-60 others(46): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 578 | chr3 | TogoVar | |||||||
EEFSEC_chr3_128148481_128413646 | 128152902 | C | CCCCGCCC others(30): Show |
upstream_gene_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0006 | 1 | 221 | 0.0045 | 37 | c.-60 others(46): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 578 | chr3 | TogoVar | |||||||
EEFSEC_chr3_128148481_128413646 | 128152902 | C | CCCCGCCC others(30): Show |
upstream_gene_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0024 | 1 | 221 | 0.0045 | 37 | c.-60 others(46): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 578 | chr3 | TogoVar | |||||||
EEFSEC_chr3_128148481_128413646 | 128152991 | C | CCGCCCCC others(30): Show |
upstream_gene_variant | MODIFIER | HG01975.hp1 HG02071.hp1 NA18945.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0047 others(8): Show |
11 | 230 | 0.0478 | 37 | c.-51 others(46): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 489 | chr3 | TogoVar | |||||||
EEPD1_chr7_36148254_36306538 | 36151852 | C | CTTTTTTT others(30): Show |
upstream_gene_variant | MODIFIER | NA19000.hp2 NA19012.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0023 a0001c0001t0007g0025 |
2 | 58 | 0.0345 | 37 | c.-20 others(48): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 1401 | chr7 | TogoVar | |||||||
EEPD1_chr7_36148254_36306538 | 36222160 | A | ACTGGTAG others(30): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0002 | a0002c0003 | a0002c0003t0060 | a0002c0003t0060g0103 | 1 | 344 | 0.0029 | 37 | c.879 others(56): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EFCAB12_chr3_129396321_129433636 | 129425518 | G | GCACTGCA others(30): Show |
intron_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 384 | 0.0026 | 37 | c.49+ others(52): Show |
EFCAB12 | ENSG00000172771.13 | transcript | ENST00000505956.6 | protein_coding | 1/8 | chr3 | TogoVar | |||||||
EFHB_chr3_19874472_19939217 | 19908562 | A | AGAGAGAG others(30): Show |
intron_variant | MODIFIER | NA19083.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0121 | 1 | 214 | 0.0047 | 37 | c.128 others(56): Show |
EFHB | ENSG00000163576.18 | transcript | ENST00000295824.14 | protein_coding | 5/12 | chr3 | TogoVar | |||||||
EFHC1_chr6_52415342_52502198 | 52485446 | G | GGATATGG others(30): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0057 | a0001c0001t0057g0299 | 1 | 392 | 0.0026 | 37 | c.164 others(56): Show |
EFHC1 | ENSG00000096093.16 | transcript | ENST00000371068.11 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
EFHD1_chr2_232628604_232687776 | 232650560 | C | CTGAGATT others(30): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01109.hp2 HG01891.hp2 others(10): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0005 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(4): Show | a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 others(10): Show |
13 | 339 | 0.0383 | 37 | c.303 others(56): Show |
EFHD1 | ENSG00000115468.13 | transcript | ENST00000264059.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EFR3B_chr2_25037076_25164135 | 25046506 | C | CTTTTTTT others(30): Show |
intron_variant | MODIFIER | HG00558.hp2 NA18977.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0010 | a0001c0001t0003g0116 a0001c0003t0010g0115 |
2 | 53 | 0.0377 | 37 | c.7+4 others(50): Show |
EFR3B | ENSG00000084710.14 | transcript | ENST00000403714.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EHD2_chr19_47708422_47748134 | 47718694 | T | TCCTGGGT others(30): Show |
intron_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0355 | 1 | 396 | 0.0025 | 37 | c.502 others(51): Show |
EHD2 | ENSG00000024422.12 | transcript | ENST00000263277.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137722988 | A | AGCCCGGG others(30): Show |
intron_variant | MODIFIER | HG02965.hp2 HG03486.hp1 |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0053 a0001c0007t0001g0082 |
2 | 168 | 0.0119 | 37 | c.643 others(54): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137723038 | T | TCTGTGTC others(30): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0154 | 1 | 159 | 0.0063 | 37 | c.643 others(54): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137723046 | T | TGTGGTTC others(30): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0116 | 1 | 154 | 0.0065 | 37 | c.643 others(54): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137723194 | T | TGTGGTTC others(30): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02965.hp1 NA18906.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0070 a0001c0004t0001g0071 a0001c0004t0001g0139 |
3 | 145 | 0.0207 | 37 | c.643 others(54): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137723249 | C | CCCGGGGT others(30): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0083 | 1 | 168 | 0.0060 | 37 | c.643 others(54): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137723342 | C | CGTGGTTC others(30): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0158 | 1 | 152 | 0.0066 | 37 | c.643 others(54): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137818867 | G | GTGTACCG others(30): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02723.hp1 HG03225.hp1 |
a0001a0002a0008 | a0001c0009a0002c0010a0008c0027 | a0001c0009t0001a0002c0010t0001a0008c0027t0001 | a0001c0009t0001g0061 a0002c0010t0001g0168 a0008c0027t0001g0125 |
3 | 159 | 0.0189 | 37 | c.354 others(54): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137819399 | G | GTGTACCG others(30): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02723.hp1 HG03225.hp1 |
a0001a0002a0008 | a0001c0009a0002c0010a0008c0027 | a0001c0009t0001a0002c0010t0001a0008c0027t0001 | a0001c0009t0001g0061 a0002c0010t0001g0168 a0008c0027t0001g0125 |
3 | 149 | 0.0201 | 37 | c.354 others(56): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EHMT2_chr6_31874759_31902698 | 31882519 | G | GGGGGTCA others(30): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0069 | 1 | 412 | 0.0024 | 37 | c.319 others(54): Show |
EHMT2 | ENSG00000204371.12 | transcript | ENST00000375537.9 | protein_coding | 25/27 | chr6 | TogoVar | |||||||
EHMT2_chr6_31874759_31902698 | 31882531 | C | CGGCTGGC others(30): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0096 | 1 | 368 | 0.0027 | 37 | c.319 others(54): Show |
EHMT2 | ENSG00000204371.12 | transcript | ENST00000375537.9 | protein_coding | 25/27 | chr6 | TogoVar | |||||||
EIF2AK1_chr7_6017247_6064175 | 6056613 | A | AAAAAAAA others(30): Show |
intron_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0064 | 1 | 129 | 0.0078 | 37 | c.119 others(54): Show |
EIF2AK1 | ENSG00000086232.13 | transcript | ENST00000199389.11 | protein_coding | 1/14 | chr7 | TogoVar | |||||||
EIF2AK1_chr7_6017247_6064175 | 6056613 | A | AAAAAAAA others(30): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0052 | 1 | 129 | 0.0078 | 37 | c.119 others(54): Show |
EIF2AK1 | ENSG00000086232.13 | transcript | ENST00000199389.11 | protein_coding | 1/14 | chr7 | TogoVar |