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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EHMT1_chr9_137614005_137841127 | 137721354 | C | CCAGACTT others(2104): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0083 | 1 | 9 | 0.1111 | 2111 | c.642 others(2128): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
HS2ST1_chr1_86909635_87114982 | 87046752 | C | CCAGGCTG others(2104): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0056 | 1 | 45 | 0.0222 | 2111 | c.125 others(2130): Show |
HS2ST1 | ENSG00000153936.18 | transcript | ENST00000370550.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HS2ST1_chr1_86909635_87114982 | 87046752 | C | CCAGGCTG others(2104): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02896.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 a0001c0001t0001g0080 |
2 | 46 | 0.0435 | 2111 | c.125 others(2130): Show |
HS2ST1 | ENSG00000153936.18 | transcript | ENST00000370550.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KCNQ2_chr20_63395208_63477655 | 63450548 | A | ACTGCTGG others(2104): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0061 | 1 | 5 | 0.2000 | 2111 | c.297 others(2128): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 1/16 | chr20 | TogoVar | |||||||
LGR6_chr1_202188799_202324761 | 202205410 | C | CCAGCACA others(2104): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00673.hp2 HG01168.hp1 others(31): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0001c0029others(6): Show | a0001c0001t0001a0001c0005t0001a0001c0029t0001others(6): Show | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0139 others(30): Show |
34 | 66 | 0.5152 | 2111 | c.212 others(2130): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATATATA others(2104): Show |
upstream_gene_variant | MODIFIER | HG01346.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0008 | 1 | 8 | 0.1250 | 2111 | c.-20 others(2122): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2104): Show |
downstream_gene_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 221 | 0.0045 | 2111 | c.*44 others(2122): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246325098 | C | CGCGGGGG others(2104): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0129 | 1 | 135 | 0.0074 | 2111 | c.531 others(2128): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
ZNF605_chr12_132913306_132961306 | 132954445 | G | GGGGAGGA others(2104): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0005 | 1 | 123 | 0.0081 | 2111 | c.-28 others(2130): Show |
ZNF605 | ENSG00000196458.11 | transcript | ENST00000360187.9 | protein_coding | 1/4 | chr12 | TogoVar | |||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2105): Show |
intron_variant | MODIFIER | HG02976.hp2 HG03579.hp2 |
a0001a0021 | a0001c0009a0021c0031 | a0001c0009t0017a0021c0031t0053 | a0001c0009t0017g0127 a0021c0031t0053g0137 |
2 | 45 | 0.0444 | 2112 | c.108 others(2129): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
AP2A2_chr11_920870_1017240 | 980397 | G | GTGCCCGG others(2105): Show |
intron_variant | MODIFIER | HG01346.hp1 HG03540.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0232 a0001c0002t0002g0234 |
2 | 126 | 0.0159 | 2112 | c.604 others(2127): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46469991 | G | GGAGGGAG others(2105): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0046 | a0046c0035 | a0046c0035t0001 | a0046c0035t0001g0076 | 1 | 102 | 0.0098 | 2112 | c.354 others(2131): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
CENPM_chr22_41933737_41952152 | 41939840 | A | AAAAGAAG others(2105): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 134 | 0.0075 | 2112 | c.403 others(2127): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | |||||||
HS2ST1_chr1_86909635_87114982 | 87046752 | C | CCAGGCTG others(2105): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02723.hp2 HG02922.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0002 a0001c0001t0008g0053 a0001c0001t0008g0054 others(2): Show |
6 | 50 | 0.1200 | 2112 | c.125 others(2131): Show |
HS2ST1 | ENSG00000153936.18 | transcript | ENST00000370550.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HS2ST1_chr1_86909635_87114982 | 87046752 | C | CCAGGCTG others(2105): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02109.hp2 HG02257.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0017 | a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 others(6): Show |
9 | 53 | 0.1698 | 2112 | c.125 others(2131): Show |
HS2ST1 | ENSG00000153936.18 | transcript | ENST00000370550.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KCNJ1_chr11_128833020_128872296 | 128868081 | A | AATATAAT others(2105): Show |
upstream_gene_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0162 | 1 | 249 | 0.0040 | 2112 | c.-11 others(2123): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 786 | chr11 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62318235 | A | AGAGAGCA others(2105): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0027 | a0027c0018 | a0027c0018t0001 | a0027c0018t0001g0157 | 1 | 176 | 0.0057 | 2112 | c.723 others(2129): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
LGR6_chr1_202188799_202324761 | 202205410 | C | CCAGCACA others(2105): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02451.hp1 |
a0001 | a0001c0001a0001c0028 | a0001c0001t0001a0001c0028t0004 | a0001c0001t0001g0259 a0001c0028t0004g0046 |
2 | 34 | 0.0588 | 2112 | c.212 others(2131): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132149256 | C | CGCCGCCT others(2105): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0199 | 1 | 275 | 0.0036 | 2112 | c.901 others(2127): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45924480 | T | TGAGGAGA others(2105): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 219 | 0.0046 | 2112 | c.718 others(2129): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45924480 | T | TGAGGAGA others(2105): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01516.hp1 HG03654.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 a0001c0001t0001g0156 a0001c0001t0001g0183 others(3): Show |
6 | 224 | 0.0268 | 2112 | c.718 others(2129): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45924646 | G | GTAGAAAC others(2105): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0237 | 1 | 172 | 0.0058 | 2112 | c.718 others(2129): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45924646 | G | GTAGAAAC others(2105): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 172 | 0.0058 | 2112 | c.718 others(2129): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45924646 | G | GTAGAAAC others(2105): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01106.hp1 HG01517.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0144 a0001c0001t0001g0155 a0001c0001t0001g0170 others(4): Show |
7 | 178 | 0.0393 | 2112 | c.718 others(2129): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45924646 | G | GTAGAAAC others(2105): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 172 | 0.0058 | 2112 | c.718 others(2129): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45924666 | A | ATCGGGTG others(2105): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01192.hp2 HG01358.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0204 others(2): Show |
5 | 246 | 0.0203 | 2112 | c.718 others(2129): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45924666 | A | ATCGGGTG others(2105): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 242 | 0.0041 | 2112 | c.718 others(2129): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4083708 | T | TCCTCCCT others(2105): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0017 | a0001c0017t0011 | a0001c0017t0011g0051 | 1 | 45 | 0.0222 | 2112 | c.332 others(2131): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 22/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
THEG_chr19_356747_381026 | 360787 | T | CGACGGTC others(2105): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0133 | 1 | 261 | 0.0038 | 2112 | c.*14 others(2123): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 960 | chr19 | TogoVar | |||||||
THEG_chr19_356747_381026 | 361486 | G | GACTCCGA others(2105): Show |
downstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 366 | 0.0027 | 2112 | c.*71 others(2121): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 260 | chr19 | TogoVar | |||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2106): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0023 | a0001c0023t0001 | a0001c0023t0001g0184 | 1 | 44 | 0.0227 | 2113 | c.108 others(2130): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
AGFG1_chr2_227467156_227566217 | 227525095 | A | ATTATATT others(2106): Show |
intron_variant | MODIFIER | NA18971.hp1 NA19010.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 a0001c0001t0001g0113 |
2 | 326 | 0.0061 | 2113 | c.694 others(2128): Show |
AGFG1 | ENSG00000173744.18 | transcript | ENST00000310078.13 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 344420 | G | GGTGTGTG others(2106): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0008 | 1 | 119 | 0.0084 | 2113 | c.62+ others(2126): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CDH4_chr20_61247261_61945617 | 61329441 | T | TCCCCTCG others(2106): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0010 | a0001c0010t0008 | a0001c0010t0008g0045 | 1 | 22 | 0.0455 | 2113 | c.169 others(2132): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CDH4_chr20_61247261_61945617 | 61329441 | T | TCCCCTCG others(2106): Show |
intron_variant | MODIFIER | HG02451.hp2 HG03209.hp1 |
a0001 | a0001c0003a0001c0007 | a0001c0003t0001a0001c0007t0047 | a0001c0003t0001g0015 a0001c0007t0047g0065 |
2 | 23 | 0.0870 | 2113 | c.169 others(2132): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
LGR6_chr1_202188799_202324761 | 202205410 | C | CCAGCACA others(2106): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02280.hp2 |
a0004 | a0004c0003 | a0004c0003t0003 | a0004c0003t0003g0056 a0004c0003t0003g0057 |
2 | 34 | 0.0588 | 2113 | c.212 others(2132): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4083708 | T | TCCTCCCT others(2106): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0017 | a0001c0017t0011 | a0001c0017t0011g0052 | 1 | 45 | 0.0222 | 2113 | c.332 others(2132): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 22/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SERPINF2_chr17_1737871_1760265 | 1741110 | A | AGGGGCCT others(2106): Show |
upstream_gene_variant | MODIFIER | NA19010.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0006 | 1 | 343 | 0.0029 | 2113 | c.-18 others(2124): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 1760 | chr17 | TogoVar | |||||||
SERPINF2_chr17_1737871_1760265 | 1741158 | A | AGCCTGAT others(2106): Show |
upstream_gene_variant | MODIFIER | NA18969.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0006 | 1 | 439 | 0.0023 | 2113 | c.-17 others(2124): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 1712 | chr17 | TogoVar | |||||||
WDR81_chr17_1719704_1743585 | 1741110 | A | AGGGGCCT others(2106): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0094 | 1 | 334 | 0.0030 | 2113 | c.*34 others(2124): Show |
WDR81 | ENSG00000167716.19 | transcript | ENST00000409644.6 | protein_coding | 2526 | chr17 | TogoVar | |||||||
WDR81_chr17_1719704_1743585 | 1741110 | A | AGGGGCCT others(2106): Show |
downstream_gene_variant | MODIFIER | NA19089.hp1 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0032 | 1 | 334 | 0.0030 | 2113 | c.*34 others(2124): Show |
WDR81 | ENSG00000167716.19 | transcript | ENST00000409644.6 | protein_coding | 2526 | chr17 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2107): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0004 | a0004c0010 | a0004c0010t0002 | a0004c0010t0002g0060 | 1 | 50 | 0.0200 | 2114 | c.147 others(2131): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DCLK2_chr4_150073445_150262438 | 150251145 | C | CACACATC others(2107): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0025 | 1 | 101 | 0.0099 | 2114 | c.207 others(2133): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | chr4 | TogoVar | |||||||
LGR6_chr1_202188799_202324761 | 202205410 | C | CCAGCACA others(2107): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02809.hp1 HG03041.hp1 others(2): Show |
a0002a0004 | a0002c0002a0004c0003 | a0002c0002t0002a0002c0002t0003a0004c0003t0003 | a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0108 others(2): Show |
5 | 37 | 0.1351 | 2114 | c.212 others(2133): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPN11_chr6_44153820_44189401 | 44181906 | A | ACACACAC others(2108): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 457 | 0.0022 | 2115 | c.193 others(2132): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 802065 | C | CCCTCCTG others(2108): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0002 | a0002c0001 | a0002c0001t0005 | a0002c0001t0005g0035 | 1 | 17 | 0.0588 | 2115 | c.18+ others(2132): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137355710 | A | AGGAAGGA others(2108): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 63 | 0.0159 | 2115 | c.757 others(2130): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | |||||||
HS2ST1_chr1_86909635_87114982 | 87046752 | C | CCAGGCTG others(2108): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02965.hp1 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0015 | a0001c0001t0014g0118 a0001c0001t0015g0124 a0001c0001t0015g0126 |
3 | 47 | 0.0638 | 2115 | c.125 others(2134): Show |
HS2ST1 | ENSG00000153936.18 | transcript | ENST00000370550.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HS2ST1_chr1_86909635_87114982 | 87046752 | C | CCAGGCTG others(2108): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0129 | 1 | 45 | 0.0222 | 2115 | c.125 others(2134): Show |
HS2ST1 | ENSG00000153936.18 | transcript | ENST00000370550.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HS2ST1_chr1_86909635_87114982 | 87046752 | C | CCAGGCTG others(2108): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01891.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0141 a0001c0001t0004g0142 a0001c0001t0004g0152 |
3 | 47 | 0.0638 | 2115 | c.125 others(2134): Show |
HS2ST1 | ENSG00000153936.18 | transcript | ENST00000370550.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |