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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
USP12_chr13_27061156_27176811 | 27063931 | A | AGGGAGGA others(6000): Show |
downstream_gene_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 167 | 0.0060 | 6007 | c.*53 others(6018): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2224 | chr13 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586499 | C | CGGGGGGG others(6003): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 308 | 0.0033 | 6010 | c.157 others(6027): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | chr17 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(6004): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 370 | 0.0027 | 6011 | c.891 others(6026): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
CRYBG1_chr6_106355717_106577017 | 106409512 | G | GAAAAAAC others(6008): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0011 | a0011c0015 | a0011c0015t0007 | a0011c0015t0007g0239 | 1 | 272 | 0.0037 | 6015 | c.174 others(6034): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CRYBG1_chr6_106355717_106577017 | 106409512 | G | GAAAAAAC others(6009): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0045 | a0045c0034 | a0045c0034t0007 | a0045c0034t0007g0240 | 1 | 272 | 0.0037 | 6016 | c.174 others(6035): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CRYBG1_chr6_106355717_106577017 | 106409512 | G | GAAAAAAC others(6009): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0067 | a0067c0053 | a0067c0053t0003 | a0067c0053t0003g0227 | 1 | 272 | 0.0037 | 6016 | c.174 others(6035): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LHFPL3_chr7_104323603_104913561 | 104771659 | T | TAATAAAT others(6009): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0058 | 1 | 86 | 0.0116 | 6016 | c.682 others(6035): Show |
LHFPL3 | ENSG00000187416.13 | transcript | ENST00000424859.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CRYBG1_chr6_106355717_106577017 | 106409512 | G | GAAAAAAC others(6010): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0002 | a0002c0003 | a0002c0003t0007 | a0002c0003t0007g0116 | 1 | 272 | 0.0037 | 6017 | c.174 others(6036): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FAM120B_chr6_170301758_170412067 | 170399932 | T | TTAGGAGT others(6010): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 289 | 0.0035 | 6017 | c.269 others(6036): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 9/10 | chr6 | TogoVar | |||||||
SPAAR_chr9_35904490_35916686 | 35914373 | T | CTGTATGT others(6011): Show |
downstream_gene_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0003 | 1 | 420 | 0.0024 | 6018 | c.*36 others(6029): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2687 | chr9 | TogoVar | |||||||
PIK3R6_chr17_8797722_8872674 | 8848979 | A | AAGGTGTG others(6013): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0255 | 1 | 354 | 0.0028 | 6020 | c.13+ others(6033): Show |
PIK3R6 | ENSG00000276231.5 | transcript | ENST00000619866.5 | protein_coding | 2/19 | chr17 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31432187 | G | GTGGTTAG others(6014): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0046 | 1 | 376 | 0.0027 | 6021 | c.101 others(6038): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RBFOX2_chr22_35733736_36033824 | 35735298 | T | TCCACCTG others(6015): Show |
downstream_gene_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0005 | 1 | 120 | 0.0083 | 6022 | c.*89 others(6033): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 3437 | chr22 | TogoVar | |||||||
UCKL1_chr20_63934829_63961416 | 63948633 | A | AGGGGCGT others(6016): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0258 | 1 | 356 | 0.0028 | 6023 | c.114 others(6040): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
CNTNAP4_chr16_76272401_76565757 | 76490978 | T | TAGAAATA others(6018): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0002 | a0002c0002 | a0002c0002t0025 | a0002c0002t0025g0203 | 1 | 274 | 0.0037 | 6025 | c.208 others(6044): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BCL2_chr18_63118346_63324769 | 63302588 | T | TAAAACAT others(6020): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 264 | 0.0038 | 6027 | c.585 others(6046): Show |
BCL2 | ENSG00000171791.14 | transcript | ENST00000333681.5 | protein_coding | 2/2 | chr18 | TogoVar | |||||||
DNER_chr2_229352629_229719555 | 229476839 | C | CAAAAGGG others(6021): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0063 a0001c0001t0002g0132 |
2 | 176 | 0.0114 | 6028 | c.126 others(6045): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 7/12 | chr2 | TogoVar | |||||||
DNER_chr2_229352629_229719555 | 229476839 | C | CAAAAGGG others(6021): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 176 | 0.0057 | 6028 | c.126 others(6045): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 7/12 | chr2 | TogoVar | |||||||
GPIHBP1_chr8_143208218_143222170 | 143218336 | C | CAACACCA others(6021): Show |
downstream_gene_variant | MODIFIER | HG01175.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 106 | 0.0094 | 6028 | c.*28 others(6039): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 1167 | chr8 | TogoVar | |||||||
DNER_chr2_229352629_229719555 | 229476839 | C | CAAAAGGG others(6022): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 176 | 0.0057 | 6029 | c.126 others(6046): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 7/12 | chr2 | TogoVar | |||||||
DNER_chr2_229352629_229719555 | 229476839 | C | CAAAAGGG others(6022): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 176 | 0.0057 | 6029 | c.126 others(6046): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 7/12 | chr2 | TogoVar | |||||||
DNER_chr2_229352629_229719555 | 229476839 | C | CAAAAGGG others(6022): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01981.hp1 HG02735.hp2 others(3): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0004c0006t0001 | a0001c0001t0001g0018 a0001c0001t0001g0038 a0001c0001t0001g0081 others(3): Show |
6 | 176 | 0.0341 | 6029 | c.126 others(6046): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 7/12 | chr2 | TogoVar | |||||||
DNER_chr2_229352629_229719555 | 229476839 | C | CAAAAGGG others(6022): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 176 | 0.0057 | 6029 | c.126 others(6046): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 7/12 | chr2 | TogoVar | |||||||
DNER_chr2_229352629_229719555 | 229476839 | C | CAAAAGGG others(6022): Show |
intron_variant | MODIFIER | NA18975.hp1 NA19075.hp1 NA19075.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 a0001c0001t0001g0071 a0001c0001t0001g0110 |
3 | 176 | 0.0171 | 6029 | c.126 others(6046): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 7/12 | chr2 | TogoVar | |||||||
DNER_chr2_229352629_229719555 | 229476839 | C | CAAAAGGG others(6022): Show |
intron_variant | MODIFIER | HG01071.hp1 NA20805.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0094 a0001c0002t0001g0161 |
2 | 176 | 0.0114 | 6029 | c.126 others(6046): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 7/12 | chr2 | TogoVar | |||||||
DNER_chr2_229352629_229719555 | 229476839 | C | CAAAAGGG others(6022): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 176 | 0.0057 | 6029 | c.126 others(6046): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 7/12 | chr2 | TogoVar | |||||||
GPR158_chr10_25170001_25607229 | 25418757 | T | TGAAAATA others(6022): Show |
intron_variant | MODIFIER | NA18988.hp2 | a0007 | a0007c0009 | a0007c0009t0002 | a0007c0009t0002g0122 | 1 | 162 | 0.0062 | 6029 | c.133 others(6048): Show |
GPR158 | ENSG00000151025.11 | transcript | ENST00000376351.4 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
NTM_chr11_131365615_132341822 | 132055687 | G | GAGAGAGA others(6023): Show |
intron_variant | MODIFIER | HG00558.hp2 HG04228.hp2 NA20752.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0032 a0001c0001t0003g0056 a0001c0002t0001g0027 |
3 | 86 | 0.0349 | 6030 | c.168 others(6049): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432174 | T | TAGGGTGG others(6023): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0172 | 1 | 376 | 0.0027 | 6030 | c.101 others(6047): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNER_chr2_229352629_229719555 | 229476835 | C | CAAACAAA others(6024): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 176 | 0.0057 | 6031 | c.126 others(6048): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 7/12 | chr2 | TogoVar | |||||||
DNER_chr2_229352629_229719555 | 229476839 | C | CAAAAGGG others(6024): Show |
intron_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 176 | 0.0057 | 6031 | c.126 others(6048): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 7/12 | chr2 | TogoVar | |||||||
GJE1_chr6_142127925_142140358 | 142128963 | T | TGCAAACT others(6025): Show |
upstream_gene_variant | MODIFIER | NA19086.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 403 | 0.0025 | 6032 | c.-41 others(6043): Show |
GJE1 | ENSG00000203733.6 | transcript | ENST00000450456.3 | protein_coding | 3961 | chr6 | TogoVar | |||||||
NMBR_chr6_142069484_142152122 | 142128963 | T | TGCAAACT others(6025): Show |
intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0117 | 1 | 330 | 0.0030 | 6032 | c.-66 others(6053): Show |
NMBR | ENSG00000135577.5 | transcript | ENST00000258042.2 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
GJE1_chr6_142127925_142140358 | 142128963 | T | TGCAAACT others(6026): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 403 | 0.0025 | 6033 | c.-41 others(6044): Show |
GJE1 | ENSG00000203733.6 | transcript | ENST00000450456.3 | protein_coding | 3961 | chr6 | TogoVar | |||||||
GJE1_chr6_142127925_142140358 | 142128963 | T | TGCAAACT others(6026): Show |
upstream_gene_variant | MODIFIER | NA19087.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 403 | 0.0025 | 6033 | c.-41 others(6044): Show |
GJE1 | ENSG00000203733.6 | transcript | ENST00000450456.3 | protein_coding | 3961 | chr6 | TogoVar | |||||||
GJE1_chr6_142127925_142140358 | 142128963 | T | TGCAAACT others(6026): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG01243.hp2 HG01358.hp2 others(10): Show |
a0001a0002 | a0001c0008a0002c0002 | a0001c0008t0001a0002c0002t0001 | a0001c0008t0001g0001 a0002c0002t0001g0001 |
13 | 403 | 0.0323 | 6033 | c.-41 others(6044): Show |
GJE1 | ENSG00000203733.6 | transcript | ENST00000450456.3 | protein_coding | 3961 | chr6 | TogoVar | |||||||
GJE1_chr6_142127925_142140358 | 142128963 | T | TGCAAACT others(6026): Show |
upstream_gene_variant | MODIFIER | HG02074.hp1 HG02083.hp1 HG02135.hp1 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 9 | 403 | 0.0223 | 6033 | c.-41 others(6044): Show |
GJE1 | ENSG00000203733.6 | transcript | ENST00000450456.3 | protein_coding | 3961 | chr6 | TogoVar | |||||||
GJE1_chr6_142127925_142140358 | 142128963 | T | TGCAAACT others(6026): Show |
upstream_gene_variant | MODIFIER | NA18987.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 403 | 0.0025 | 6033 | c.-41 others(6044): Show |
GJE1 | ENSG00000203733.6 | transcript | ENST00000450456.3 | protein_coding | 3961 | chr6 | TogoVar | |||||||
NMBR_chr6_142069484_142152122 | 142128963 | T | TGCAAACT others(6026): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0122 | 1 | 330 | 0.0030 | 6033 | c.-66 others(6054): Show |
NMBR | ENSG00000135577.5 | transcript | ENST00000258042.2 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
NMBR_chr6_142069484_142152122 | 142128963 | T | TGCAAACT others(6026): Show |
intron_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0110 | 1 | 330 | 0.0030 | 6033 | c.-66 others(6054): Show |
NMBR | ENSG00000135577.5 | transcript | ENST00000258042.2 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
NMBR_chr6_142069484_142152122 | 142128963 | T | TGCAAACT others(6026): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01243.hp2 HG01358.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0011 | a0001c0001t0003g0083 a0001c0001t0003g0102 a0001c0001t0003g0103 others(7): Show |
10 | 330 | 0.0303 | 6033 | c.-66 others(6054): Show |
NMBR | ENSG00000135577.5 | transcript | ENST00000258042.2 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
NMBR_chr6_142069484_142152122 | 142128963 | T | TGCAAACT others(6026): Show |
intron_variant | MODIFIER | HG02074.hp2 NA18943.hp1 NA18954.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0017 | a0001c0001t0003g0004 a0001c0001t0003g0118 a0001c0001t0003g0119 others(2): Show |
7 | 330 | 0.0212 | 6033 | c.-66 others(6054): Show |
NMBR | ENSG00000135577.5 | transcript | ENST00000258042.2 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
NMBR_chr6_142069484_142152122 | 142128963 | T | TGCAAACT others(6026): Show |
intron_variant | MODIFIER | NA18987.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0088 | 1 | 330 | 0.0030 | 6033 | c.-66 others(6054): Show |
NMBR | ENSG00000135577.5 | transcript | ENST00000258042.2 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
UCKL1_chr20_63934829_63961416 | 63948596 | G | GGGCGTGT others(6026): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222 | 1 | 356 | 0.0028 | 6033 | c.114 others(6050): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
GJE1_chr6_142127925_142140358 | 142128963 | T | TGCAAACT others(6027): Show |
upstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0001 | 1 | 403 | 0.0025 | 6034 | c.-41 others(6045): Show |
GJE1 | ENSG00000203733.6 | transcript | ENST00000450456.3 | protein_coding | 3961 | chr6 | TogoVar | |||||||
GJE1_chr6_142127925_142140358 | 142128963 | T | TGCAAACT others(6027): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0001 | 1 | 403 | 0.0025 | 6034 | c.-41 others(6045): Show |
GJE1 | ENSG00000203733.6 | transcript | ENST00000450456.3 | protein_coding | 3961 | chr6 | TogoVar | |||||||
GJE1_chr6_142127925_142140358 | 142128963 | T | TGCAAACT others(6027): Show |
upstream_gene_variant | MODIFIER | NA19004.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 403 | 0.0025 | 6034 | c.-41 others(6045): Show |
GJE1 | ENSG00000203733.6 | transcript | ENST00000450456.3 | protein_coding | 3961 | chr6 | TogoVar | |||||||
GJE1_chr6_142127925_142140358 | 142128963 | T | TGCAAACT others(6027): Show |
upstream_gene_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0001 | 1 | 403 | 0.0025 | 6034 | c.-41 others(6045): Show |
GJE1 | ENSG00000203733.6 | transcript | ENST00000450456.3 | protein_coding | 3961 | chr6 | TogoVar | |||||||
GJE1_chr6_142127925_142140358 | 142128963 | T | TGCAAACT others(6027): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(41): Show |
a0001a0002a0007 | a0001c0003a0002c0002a0002c0010others(1): Show | a0001c0003t0001a0002c0002t0001a0002c0010t0001others(1): Show | a0001c0003t0001g0001 a0001c0003t0001g0008 a0002c0002t0001g0001 others(2): Show |
44 | 403 | 0.1092 | 6034 | c.-41 others(6045): Show |
GJE1 | ENSG00000203733.6 | transcript | ENST00000450456.3 | protein_coding | 3961 | chr6 | TogoVar | |||||||
GJE1_chr6_142127925_142140358 | 142128963 | T | TGCAAACT others(6027): Show |
upstream_gene_variant | MODIFIER | NA18957.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 403 | 0.0025 | 6034 | c.-41 others(6045): Show |
GJE1 | ENSG00000203733.6 | transcript | ENST00000450456.3 | protein_coding | 3961 | chr6 | TogoVar |