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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PRR20G_chr3_127278783_127293046 | 127289915 | T | TACATATT others(1890): Show |
upstream_gene_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 8 | 0.1250 | 1897 | c.-20 others(1908): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TACATATT others(1890): Show |
upstream_gene_variant | MODIFIER | NA18962.hp1 NA18978.hp2 NA18988.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 6 | 13 | 0.4615 | 1897 | c.-20 others(1908): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATACATA others(1890): Show |
upstream_gene_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 8 | 0.1250 | 1897 | c.-20 others(1908): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATACATA others(1890): Show |
upstream_gene_variant | MODIFIER | HG02148.hp1 | a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0005 | 1 | 8 | 0.1250 | 1897 | c.-20 others(1908): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
WDR64_chr1_241647281_241807777 | 241675133 | T | TCCCTCCC others(1890): Show |
intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0226 | 1 | 312 | 0.0032 | 1897 | c.483 others(1912): Show |
WDR64 | ENSG00000162843.18 | transcript | ENST00000437684.7 | protein_coding | 4/27 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1891): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02965.hp2 HG02976.hp1 others(1): Show |
a0001a0004 | a0001c0003a0004c0007 | a0001c0003t0001a0001c0003t0006a0004c0007t0005 | a0001c0003t0001g0163 a0001c0003t0001g0164 a0001c0003t0006g0206 others(1): Show |
4 | 92 | 0.0435 | 1898 | c.128 others(1913): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
CLEC17A_chr19_14578084_14617035 | 14595973 | A | ATGTTGTT others(1891): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0238 | 1 | 30 | 0.0333 | 1898 | c.445 others(1913): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
DAAM2_chr6_39787376_39909869 | 39845369 | A | AACCCCAT others(1891): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0006 | a0006c0040 | a0006c0040t0002 | a0006c0040t0002g0229 | 1 | 73 | 0.0137 | 1898 | c.-56 others(1917): Show |
DAAM2 | ENSG00000146122.17 | transcript | ENST00000274867.9 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DAAM2_chr6_39787376_39909869 | 39845369 | A | AACCCCAT others(1891): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0002 | 1 | 73 | 0.0137 | 1898 | c.-56 others(1917): Show |
DAAM2 | ENSG00000146122.17 | transcript | ENST00000274867.9 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DAAM2_chr6_39787376_39909869 | 39845369 | A | AACCCCAT others(1891): Show |
intron_variant | MODIFIER | NA18944.hp1 NA18949.hp2 NA18954.hp1 others(6): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0002a0001c0003t0003others(3): Show | a0001c0001t0001g0066 a0001c0001t0001g0094 a0001c0002t0002g0108 others(6): Show |
9 | 81 | 0.1111 | 1898 | c.-56 others(1917): Show |
DAAM2 | ENSG00000146122.17 | transcript | ENST00000274867.9 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DAAM2_chr6_39787376_39909869 | 39845369 | A | AACCCCAT others(1891): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0019 | 1 | 73 | 0.0137 | 1898 | c.-56 others(1917): Show |
DAAM2 | ENSG00000146122.17 | transcript | ENST00000274867.9 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FMN2_chr1_240086883_240480187 | 240185090 | C | CCCCTTCT others(1891): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0006 | a0006c0024 | a0006c0024t0005 | a0006c0024t0005g0150 | 1 | 147 | 0.0068 | 1898 | c.193 others(1917): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61393236 | G | GCCCTCTC others(1891): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0040 | 1 | 148 | 0.0068 | 1898 | c.107 others(1917): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61393244 | C | CCTCTCTC others(1891): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0002 | a0001c0002t0055 | a0001c0002t0055g0126 | 1 | 48 | 0.0208 | 1898 | c.107 others(1917): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61393246 | T | TCTCTCTC others(1891): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0104 | 1 | 138 | 0.0072 | 1898 | c.107 others(1917): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKAG2_chr7_151551127_151882115 | 151626784 | C | CCCTCCCT others(1891): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0006 | 1 | 232 | 0.0043 | 1898 | c.754 others(1915): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 5/15 | chr7 | TogoVar | |||||||
RGS12_chr4_3288021_3444913 | 3341575 | A | AGGGGAGG others(1891): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0104 | 1 | 304 | 0.0033 | 1898 | c.188 others(1917): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLC38A10_chr17_81239811_81300307 | 81249456 | G | GAGGAGGG others(1891): Show |
intron_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0142 | 1 | 20 | 0.0500 | 1898 | c.206 others(1917): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1892): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01975.hp2 NA18945.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(2): Show | a0001c0001t0001g0138 a0001c0001t0002g0156 a0001c0001t0002g0158 others(3): Show |
6 | 94 | 0.0638 | 1899 | c.128 others(1914): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1892): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0005 | a0005c0008 | a0005c0008t0004 | a0005c0008t0004g0331 | 1 | 89 | 0.0112 | 1899 | c.128 others(1914): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1892): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0006 | a0006c0010 | a0006c0010t0005 | a0006c0010t0005g0025 | 1 | 89 | 0.0112 | 1899 | c.128 others(1914): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1892): Show |
intron_variant | MODIFIER | HG00423.hp1 NA19011.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0244 a0002c0002t0001g0303 |
2 | 90 | 0.0222 | 1899 | c.128 others(1914): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1892): Show |
intron_variant | MODIFIER | HG00609.hp1 NA18747.hp2 NA20300.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0103 a0002c0002t0001g0085 a0002c0002t0001g0116 |
3 | 91 | 0.0330 | 1899 | c.128 others(1914): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1892): Show |
intron_variant | MODIFIER | HG02293.hp2 HG02572.hp2 HG02602.hp1 others(2): Show |
a0001a0002a0003 | a0001c0003a0002c0002a0003c0006 | a0001c0003t0001a0001c0003t0008a0002c0002t0001others(1): Show | a0001c0003t0001g0094 a0001c0003t0008g0371 a0002c0002t0001g0279 others(2): Show |
5 | 93 | 0.0538 | 1899 | c.128 others(1914): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1892): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 89 | 0.0112 | 1899 | c.128 others(1914): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1892): Show |
intron_variant | MODIFIER | NA18962.hp1 NA18983.hp1 NA19084.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 a0001c0001t0001g0255 a0001c0001t0001g0311 |
3 | 91 | 0.0330 | 1899 | c.128 others(1914): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1892): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0251 | 1 | 89 | 0.0112 | 1899 | c.128 others(1914): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1892): Show |
intron_variant | MODIFIER | HG01167.hp1 HG02818.hp2 NA19030.hp2 others(1): Show |
a0001 | a0001c0003a0001c0004a0001c0005 | a0001c0003t0001a0001c0003t0008a0001c0004t0009others(1): Show | a0001c0003t0001g0364 a0001c0003t0008g0366 a0001c0004t0009g0368 others(1): Show |
4 | 92 | 0.0435 | 1899 | c.128 others(1914): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1892): Show |
intron_variant | MODIFIER | HG01168.hp2 NA19240.hp1 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0001a0002c0002t0001 | a0001c0003t0001g0370 a0002c0002t0001g0254 |
2 | 90 | 0.0222 | 1899 | c.128 others(1914): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1892): Show |
intron_variant | MODIFIER | HG02293.hp1 HG02895.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0150 a0001c0001t0002g0234 |
2 | 90 | 0.0222 | 1899 | c.128 others(1914): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1892): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0167 | 1 | 89 | 0.0112 | 1899 | c.128 others(1914): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1892): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0018 | 1 | 89 | 0.0112 | 1899 | c.128 others(1914): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1892): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01069.hp1 HG01069.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0052 a0001c0001t0001g0231 a0001c0001t0002g0107 others(3): Show |
6 | 94 | 0.0638 | 1899 | c.128 others(1914): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1892): Show |
intron_variant | MODIFIER | HG00609.hp2 HG02300.hp2 NA18989.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0137 a0001c0001t0001g0347 a0001c0001t0001g0354 others(2): Show |
5 | 93 | 0.0538 | 1899 | c.128 others(1914): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1892): Show |
intron_variant | MODIFIER | HG00280.hp1 NA18939.hp1 NA18954.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0073 a0001c0001t0001g0343 a0001c0001t0002g0054 others(7): Show |
10 | 98 | 0.1020 | 1899 | c.128 others(1914): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1892): Show |
intron_variant | MODIFIER | HG02027.hp1 HG02040.hp1 HG02056.hp2 others(9): Show |
a0001a0002a0006 | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(6): Show | a0001c0001t0001g0028 a0001c0001t0001g0196 a0001c0001t0001g0297 others(9): Show |
12 | 100 | 0.1200 | 1899 | c.128 others(1914): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1892): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 89 | 0.0112 | 1899 | c.128 others(1914): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1892): Show |
intron_variant | MODIFIER | NA18947.hp2 NA19010.hp2 NA19088.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0237 |
3 | 91 | 0.0330 | 1899 | c.128 others(1914): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 411156 | C | CCTGCTGG others(1892): Show |
upstream_gene_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0002 | a0001c0002t0063 | a0001c0002t0063g0126 | 1 | 268 | 0.0037 | 1899 | c.-21 others(1910): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 2010 | chr19 | TogoVar | |||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(1892): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0054 | 1 | 2 | 0.5000 | 1899 | c.126 others(1916): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586451 | G | GTGGGGGA others(1892): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0228 | 1 | 264 | 0.0038 | 1899 | c.157 others(1916): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | chr17 | TogoVar | |||||||
FOXP1_chr3_70949708_71588728 | 71435561 | A | AAGGAGGG others(1892): Show |
intron_variant | MODIFIER | HG02109.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0023 | a0001c0001t0022g0047 a0001c0001t0023g0045 |
2 | 80 | 0.0250 | 1899 | c.-16 others(1920): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 3/20 | chr3 | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 316301 | G | GACACAGA others(1892): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0014 | a0014c0017 | a0014c0017t0003 | a0014c0017t0003g0099 | 1 | 67 | 0.0149 | 1899 | c.487 others(1914): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17877171 | G | GGGAGGTT others(1892): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0256 | 1 | 214 | 0.0047 | 1899 | c.224 others(1918): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17877513 | G | GGGAGGTT others(1892): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0014 | a0014c0019 | a0014c0019t0001 | a0014c0019t0001g0013 | 1 | 239 | 0.0042 | 1899 | c.224 others(1918): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MIER2_chr19_300573_349796 | 310052 | G | GCACACAG others(1892): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02896.hp2 NA19030.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0002 | a0001c0001t0004g0073 a0001c0001t0004g0255 a0001c0002t0002g0125 |
3 | 378 | 0.0079 | 1899 | c.985 others(1916): Show |
MIER2 | ENSG00000105556.12 | transcript | ENST00000264819.7 | protein_coding | 10/13 | chr19 | TogoVar | |||||||
NFIA_chr1_61077561_61467788 | 61393236 | G | GCCCTCTC others(1892): Show |
intron_variant | MODIFIER | NA18951.hp2 NA18959.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0078 a0001c0001t0011g0154 |
2 | 149 | 0.0134 | 1899 | c.107 others(1918): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61393256 | T | TCTCTCTC others(1892): Show |
intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0156 | 1 | 150 | 0.0067 | 1899 | c.107 others(1918): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PIFO_chr1_111341622_111358013 | 111353551 | T | TAAAAGAA others(1892): Show |
downstream_gene_variant | MODIFIER | HG02738.hp1 HG03710.hp2 HG04204.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 a0001c0001t0003g0029 |
3 | 212 | 0.0142 | 1899 | c.*22 others(1910): Show |
PIFO | ENSG00000173947.14 | transcript | ENST00000369738.9 | protein_coding | 539 | chr1 | TogoVar | |||||||
PRKAG2_chr7_151551127_151882115 | 151626784 | C | CCCTCCCT others(1892): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0252 | 1 | 232 | 0.0043 | 1899 | c.754 others(1916): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 5/15 | chr7 | TogoVar |