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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
OTOG_chr11_17542259_17651044 | 17552549 | C | CCCCACCT others(1991): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0123 | a0123c0137 | a0123c0137t0001 | a0123c0137t0001g0008 | 1 | 148 | 0.0068 | 1998 | c.292 others(2013): Show |
OTOG | ENSG00000188162.12 | transcript | ENST00000399397.6 | protein_coding | 4/55 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PRPF31_chr19_54110754_54136713 | 54133829 | C | CTTCCTCC others(1991): Show |
downstream_gene_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 73 | 0.0137 | 1998 | c.*23 others(2009): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2117 | chr19 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31432039 | C | CAGGGTGG others(1991): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0360 | 1 | 226 | 0.0044 | 1998 | c.101 others(2015): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPI1_chr11_47349860_47383547 | 47371359 | C | CAAAAAAA others(1991): Show |
intron_variant | MODIFIER | HG02615.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0220 a0001c0001t0002g0221 |
2 | 387 | 0.0052 | 1998 | c.142 others(2015): Show |
SPI1 | ENSG00000066336.13 | transcript | ENST00000378538.8 | protein_coding | 2/4 | chr11 | TogoVar | |||||||
SPI1_chr11_47349860_47383547 | 47371359 | C | CAAAAAAA others(1991): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0057 | 1 | 386 | 0.0026 | 1998 | c.142 others(2015): Show |
SPI1 | ENSG00000066336.13 | transcript | ENST00000378538.8 | protein_coding | 2/4 | chr11 | TogoVar | |||||||
DCLK2_chr4_150073445_150262438 | 150251046 | A | AACACCCC others(1992): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0043 | 1 | 95 | 0.0105 | 1999 | c.207 others(2018): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | chr4 | TogoVar | |||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(1992): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0075 | 1 | 4 | 0.2500 | 1999 | c.972 others(2012): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173041 | C | CCCCCTCT others(1992): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0004 | a0004c0030 | a0004c0030t0027 | a0004c0030t0027g0084 | 1 | 95 | 0.0105 | 1999 | c.*11 others(2020): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | chr10 | TogoVar | |||||||
RAB3IP_chr12_69733860_69828199 | 69813822 | A | AGAAGCCT others(1992): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0027 | 1 | 400 | 0.0025 | 1999 | c.130 others(2016): Show |
RAB3IP | ENSG00000127328.22 | transcript | ENST00000247833.12 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
RGS10_chr10_119494817_119547719 | 119547323 | C | CGCTCCGT others(1992): Show |
upstream_gene_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0325 | 1 | 4 | 0.2500 | 1999 | c.-46 others(2010): Show |
RGS10 | ENSG00000148908.15 | transcript | ENST00000369103.3 | protein_coding | 4605 | chr10 | TogoVar | |||||||
RGS10_chr10_119494817_119547719 | 119547323 | C | CGCTCCGT others(1992): Show |
upstream_gene_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 4 | 0.2500 | 1999 | c.-46 others(2010): Show |
RGS10 | ENSG00000148908.15 | transcript | ENST00000369103.3 | protein_coding | 4605 | chr10 | TogoVar | |||||||
RGS10_chr10_119494817_119547719 | 119547323 | C | CGCTCCGT others(1992): Show |
upstream_gene_variant | MODIFIER | HG01361.hp2 HG02165.hp1 NA19000.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0140 a0001c0001t0001g0143 others(3): Show |
6 | 9 | 0.6667 | 1999 | c.-46 others(2010): Show |
RGS10 | ENSG00000148908.15 | transcript | ENST00000369103.3 | protein_coding | 4605 | chr10 | TogoVar | |||||||
RGS10_chr10_119494817_119547719 | 119547323 | C | CGCTCCGT others(1992): Show |
upstream_gene_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 4 | 0.2500 | 1999 | c.-46 others(2010): Show |
RGS10 | ENSG00000148908.15 | transcript | ENST00000369103.3 | protein_coding | 4605 | chr10 | TogoVar | |||||||
RGS10_chr10_119494817_119547719 | 119547323 | C | CGCTCCGT others(1992): Show |
upstream_gene_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 | 1 | 4 | 0.2500 | 1999 | c.-46 others(2010): Show |
RGS10 | ENSG00000148908.15 | transcript | ENST00000369103.3 | protein_coding | 4605 | chr10 | TogoVar | |||||||
SLC22A11_chr11_64550941_64577875 | 64553153 | G | GGTGGTGA others(1992): Show |
upstream_gene_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 3 | 0.3333 | 1999 | c.-28 others(2010): Show |
SLC22A11 | ENSG00000168065.16 | transcript | ENST00000301891.9 | protein_coding | 2787 | chr11 | TogoVar | |||||||
SPI1_chr11_47349860_47383547 | 47371360 | A | AAAAAAAA others(1992): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0177 | 1 | 86 | 0.0116 | 1999 | c.142 others(2016): Show |
SPI1 | ENSG00000066336.13 | transcript | ENST00000378538.8 | protein_coding | 2/4 | chr11 | TogoVar | |||||||
TMEM132D_chr12_129066726_129909025 | 129828734 | G | GGGAGGGA others(1992): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0094 | 1 | 91 | 0.0110 | 1999 | c.79+ others(2016): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 1/8 | chr12 | TogoVar | |||||||
WDR7_chr18_56646359_57034792 | 57024880 | G | GCAGGAAT others(1992): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0043 | 1 | 53 | 0.0189 | 1999 | c.427 others(2018): Show |
WDR7 | ENSG00000091157.15 | transcript | ENST00000254442.8 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr18 | TogoVar |