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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NFIA_chr1_61077561_61467788 | 61393286 | T | TCTCTCTC others(1902): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0092 | 1 | 132 | 0.0076 | 1909 | c.107 others(1928): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61393291 | C | CGGTTTCT others(1902): Show |
intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0002 | a0001c0002t0021 | a0001c0002t0021g0058 | 1 | 149 | 0.0067 | 1909 | c.107 others(1928): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | chr1 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1142161 | A | ACTCAATG others(1902): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0024 | a0001c0024t0001 | a0001c0024t0001g0178 | 1 | 7 | 0.1429 | 1909 | c.279 others(1926): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 4/31 | chr19 | TogoVar | |||||||
ADGRE2_chr19_14727392_14783560 | 14763771 | T | TCTTGTCC others(1903): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02630.hp1 |
a0011 | a0011c0019 | a0011c0019t0026 | a0011c0019t0026g0105 a0011c0019t0026g0106 |
2 | 215 | 0.0093 | 1910 | c.108 others(1927): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(1903): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 50 | 0.0200 | 1910 | c.147 others(1927): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62349741 | T | TGGTGGGG others(1903): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0013 | a0013c0019 | a0013c0019t0002 | a0013c0019t0002g0115 | 1 | 31 | 0.0323 | 1910 | c.956 others(1927): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(1903): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0067 | a0067c0058 | a0067c0058t0001 | a0067c0058t0001g0129 | 1 | 32 | 0.0313 | 1910 | c.218 others(1925): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
NFIA_chr1_61077561_61467788 | 61393238 | C | CTCTCTCT others(1903): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0060 | a0001c0001t0060g0001 | 1 | 151 | 0.0066 | 1910 | c.107 others(1929): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | chr1 | TogoVar | |||||||
NFIA_chr1_61077561_61467788 | 61393244 | C | CCTCTCTC others(1903): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0037 | 1 | 48 | 0.0208 | 1910 | c.107 others(1929): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196811205 | T | TCCCTCCC others(1903): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0175 | 1 | 172 | 0.0058 | 1910 | c.773 others(1925): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PRR5L_chr11_36291288_36470204 | 36309624 | C | CATGATGG others(1903): Show |
intron_variant | MODIFIER | HG03669.hp2 HG04115.hp2 NA18947.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(1): Show | a0001c0001t0001g0021 a0001c0001t0002g0154 a0001c0001t0011g0140 others(2): Show |
5 | 47 | 0.1064 | 1910 | c.-12 others(1931): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TCF3_chr19_1604292_1657615 | 1629082 | C | CGGGAAGG others(1903): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0202 | 1 | 288 | 0.0035 | 1910 | c.299 others(1927): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(1904): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 50 | 0.0200 | 1911 | c.147 others(1928): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 82972644 | C | GACCACAC others(1904): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0258 | 1 | 252 | 0.0040 | 1911 | c.460 others(1928): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 411045 | C | CCTGCTGG others(1904): Show |
upstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0029 | 1 | 194 | 0.0052 | 1911 | c.-20 others(1922): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1899 | chr19 | TogoVar | |||||||
CACNA1H_chr16_1148106_1226768 | 1185658 | A | ATAGGGCC others(1904): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0006 | a0006c0003 | a0006c0003t0001 | a0006c0003t0001g0018 | 1 | 103 | 0.0097 | 1911 | c.300 others(1928): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12776122 | A | AGACTGTG others(1904): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0084 | 1 | 9 | 0.1111 | 1911 | c.565 others(1928): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 5/10 | chr10 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333769 | T | TGAGGATA others(1904): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01070.hp2 HG01074.hp2 others(2): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0002a0001c0009t0002 | a0001c0001t0002g0012 a0001c0001t0002g0257 a0001c0009t0002g0218 |
5 | 331 | 0.0151 | 1911 | c.891 others(1926): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
DGCR8_chr22_20075241_20116872 | 20075553 | C | CGAGACCA others(1904): Show |
upstream_gene_variant | MODIFIER | NA18612.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0024 | 1 | 2 | 0.5000 | 1911 | c.-51 others(1922): Show |
DGCR8 | ENSG00000128191.17 | transcript | ENST00000351989.8 | protein_coding | 4687 | chr22 | TogoVar | |||||||
DGCR8_chr22_20075241_20116872 | 20075553 | C | CGAGACCA others(1904): Show |
upstream_gene_variant | MODIFIER | NA18990.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0032 | 1 | 2 | 0.5000 | 1911 | c.-51 others(1922): Show |
DGCR8 | ENSG00000128191.17 | transcript | ENST00000351989.8 | protein_coding | 4687 | chr22 | TogoVar | |||||||
DGCR8_chr22_20075241_20116872 | 20075553 | C | CGAGACCA others(1904): Show |
upstream_gene_variant | MODIFIER | NA19070.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0020 | 1 | 2 | 0.5000 | 1911 | c.-51 others(1922): Show |
DGCR8 | ENSG00000128191.17 | transcript | ENST00000351989.8 | protein_coding | 4687 | chr22 | TogoVar | |||||||
DGCR8_chr22_20075241_20116872 | 20075553 | C | CGAGACCA others(1904): Show |
upstream_gene_variant | MODIFIER | HG01069.hp2 HG02015.hp1 HG02129.hp1 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0004a0002c0002t0024 | a0001c0001t0003g0056 a0002c0002t0004g0013 a0002c0002t0004g0020 others(5): Show |
16 | 17 | 0.9412 | 1911 | c.-51 others(1922): Show |
DGCR8 | ENSG00000128191.17 | transcript | ENST00000351989.8 | protein_coding | 4687 | chr22 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 323025 | T | TTGTTAGA others(1904): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0046 | 1 | 55 | 0.0182 | 1911 | c.392 others(1930): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 31/36 | chr10 | TogoVar | |||||||
EML1_chr14_99788413_99947060 | 99927957 | G | GAGGTGGT others(1904): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0015 | 1 | 280 | 0.0036 | 1911 | c.190 others(1930): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | chr14 | TogoVar | |||||||
ENTREP2_chr15_29115252_29575979 | 29558678 | C | CCTCCCAC others(1904): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02486.hp1 |
a0001 | a0001c0002a0001c0019 | a0001c0002t0002a0001c0019t0001 | a0001c0002t0002g0040 a0001c0019t0001g0033 |
2 | 4 | 0.5000 | 1911 | c.219 others(1930): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
GALM_chr2_38661114_38739765 | 38711815 | T | TCATACCA others(1904): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0213 | 1 | 77 | 0.0130 | 1911 | c.635 others(1930): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALM_chr2_38661114_38739765 | 38711815 | T | TCATACCA others(1904): Show |
intron_variant | MODIFIER | HG02717.hp1 HG03139.hp1 HG03209.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 others(1): Show |
4 | 80 | 0.0500 | 1911 | c.635 others(1930): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALM_chr2_38661114_38739765 | 38711815 | T | TCATACCA others(1904): Show |
intron_variant | MODIFIER | HG02523.hp2 NA19012.hp1 NA19063.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0153 a0001c0001t0001g0154 a0002c0002t0001g0186 |
3 | 79 | 0.0380 | 1911 | c.635 others(1930): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALM_chr2_38661114_38739765 | 38711815 | T | TCATACCA others(1904): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01361.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0015 | a0001c0001t0003g0052 a0001c0001t0003g0054 a0001c0001t0003g0055 others(5): Show |
8 | 84 | 0.0952 | 1911 | c.635 others(1930): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALM_chr2_38661114_38739765 | 38711815 | T | TCATACCA others(1904): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0002 | a0002c0002 | a0002c0002t0013 | a0002c0002t0013g0209 | 1 | 77 | 0.0130 | 1911 | c.635 others(1930): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71680692 | T | TCCCTCCC others(1904): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0047 | 1 | 43 | 0.0233 | 1911 | c.150 others(1930): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 9/10 | chr7 | TogoVar | |||||||
HPCAL1_chr2_10297904_10432604 | 10399426 | A | ACCACCAT others(1904): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 285 | 0.0035 | 1911 | c.-25 others(1928): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KLHDC4_chr16_87702812_87770986 | 87739065 | C | CCTCATCC others(1904): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01952.hp2 NA18962.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0064 a0001c0001t0001g0123 a0001c0001t0001g0125 others(2): Show |
5 | 156 | 0.0321 | 1911 | c.507 others(1928): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
KLHDC4_chr16_87702812_87770986 | 87739065 | C | CCTCATCC others(1904): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 152 | 0.0066 | 1911 | c.507 others(1928): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
KLHDC4_chr16_87702812_87770986 | 87739088 | C | CCTCATCC others(1904): Show |
intron_variant | MODIFIER | NA18945.hp2 NA19005.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 a0001c0001t0001g0074 |
2 | 303 | 0.0066 | 1911 | c.507 others(1928): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
NFIA_chr1_61077561_61467788 | 61393286 | T | TCTCTCTC others(1904): Show |
intron_variant | MODIFIER | NA19002.hp2 NA19058.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0033 | a0001c0001t0002g0059 a0001c0001t0033g0085 |
2 | 133 | 0.0150 | 1911 | c.107 others(1930): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
OPCML_chr11_132409981_133537501 | 133354202 | A | ATGGTGGT others(1904): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0058 | 1 | 15 | 0.0667 | 1911 | c.61+ others(1930): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
OPCML_chr11_132409981_133537501 | 133354202 | A | ATGGTGGT others(1904): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0066 | 1 | 15 | 0.0667 | 1911 | c.61+ others(1930): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 458604 | G | GGGTTCAC others(1904): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0126 | 1 | 207 | 0.0048 | 1911 | c.715 others(1928): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 458604 | G | GGGTTCAC others(1904): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0141 | 1 | 207 | 0.0048 | 1911 | c.715 others(1928): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113419038 | C | CCCCTTCC others(1905): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0259 | 1 | 206 | 0.0049 | 1912 | c.106 others(1931): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(1905): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0092 | 1 | 76 | 0.0132 | 1912 | c.955 others(1929): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CTNNA3_chr10_65907523_67701195 | 67465122 | T | TTAAAATA others(1905): Show |
intron_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0041 | 1 | 43 | 0.0233 | 1912 | c.579 others(1931): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 5/17 | chr10 | TogoVar | |||||||
DCLK1_chr13_35763652_36136382 | 35958131 | A | ACTGTAAC others(1905): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0005 | a0001c0005t0025 | a0001c0005t0025g0140 | 1 | 45 | 0.0222 | 1912 | c.724 others(1931): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
DGCR8_chr22_20075241_20116872 | 20075553 | C | CGAGACCA others(1905): Show |
upstream_gene_variant | MODIFIER | HG01255.hp1 HG02027.hp2 |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0024 a0002c0002t0004g0061 |
2 | 3 | 0.6667 | 1912 | c.-51 others(1923): Show |
DGCR8 | ENSG00000128191.17 | transcript | ENST00000351989.8 | protein_coding | 4687 | chr22 | TogoVar | |||||||
DGCR8_chr22_20075241_20116872 | 20075553 | C | CGAGACCA others(1905): Show |
upstream_gene_variant | MODIFIER | HG02258.hp2 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 2 | 3 | 0.6667 | 1912 | c.-51 others(1923): Show |
DGCR8 | ENSG00000128191.17 | transcript | ENST00000351989.8 | protein_coding | 4687 | chr22 | TogoVar | |||||||
DGCR8_chr22_20075241_20116872 | 20075553 | C | CGAGACCA others(1905): Show |
upstream_gene_variant | MODIFIER | NA18982.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0032 | 1 | 2 | 0.5000 | 1912 | c.-51 others(1923): Show |
DGCR8 | ENSG00000128191.17 | transcript | ENST00000351989.8 | protein_coding | 4687 | chr22 | TogoVar | |||||||
NFIA_chr1_61077561_61467788 | 61393244 | C | CCTCTCTC others(1905): Show |
intron_variant | MODIFIER | HG02698.hp2 NA19003.hp1 |
a0001 | a0001c0002 | a0001c0002t0007a0001c0002t0014 | a0001c0002t0007g0075 a0001c0002t0014g0021 |
2 | 49 | 0.0408 | 1912 | c.107 others(1931): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61393286 | T | TCTCTCTC others(1905): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0062 | 1 | 132 | 0.0076 | 1912 | c.107 others(1931): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
UCKL1_chr20_63934829_63961416 | 63948608 | A | AGAGGGAG others(1905): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 | 1 | 317 | 0.0032 | 1912 | c.114 others(1929): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar |