regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FAT3_chr11_92219818_92901473 | 92705644 | T | TAGTGATG others(2103): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0040 | a0040c0056 | a0040c0056t0070 | a0040c0056t0070g0021 | 1 | 118 | 0.0085 | 2110 | c.366 others(2129): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 4/27 | chr11 | TogoVar | ||||||
HS2ST1_chr1_86909635_87114982 | 87046752 | C | CCAGGCTG others(2103): Show |
intron_variant | MODIFIER | HG00140.hp1 HG02258.hp1 HG03831.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085a0001c0001t0001g0091a0001c0001t0001g0100 | 3 | 154 | 0.0195 | 2110 | c.125 others(2129): Show |
HS2ST1 | ENSG00000153936.18 | transcript | ENST00000370550.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KANK1_chr9_499695_751103 | 514123 | T | TCCTCCTT others(2103): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0016 | a0016c0016 | a0016c0016t0001 | a0016c0016t0001g0234 | 1 | 254 | 0.0039 | 2110 | c.-84 others(2127): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
LGR6_chr1_202188799_202324761 | 202205410 | C | CCAGCACA others(2103): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0003 | a0003c0025 | a0003c0025t0004 | a0003c0025t0004g0099 | 1 | 262 | 0.0038 | 2110 | c.212 others(2129): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
LHPP_chr10_124456823_124619141 | 124507284 | G | GGGTAGGG others(2103): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 260 | 0.0039 | 2110 | c.624 others(2127): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
RASGEF1C_chr5_180095795_180214211 | 180134844 | C | CCATCCAC others(2103): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0240 | 1 | 370 | 0.0027 | 2110 | c.438 others(2127): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 4/13 | chr5 | TogoVar | ||||||
ZNF605_chr12_132913306_132961306 | 132954429 | A | AGGAGAAG others(2103): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 126 | 0.0079 | 2110 | c.-28 others(2129): Show |
ZNF605 | ENSG00000196458.11 | transcript | ENST00000360187.9 | protein_coding | 1/4 | chr12 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2104): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0041 | a0041c0066 | a0041c0066t0002 | a0041c0066t0002g0103 | 1 | 104 | 0.0096 | 2111 | c.354 others(2130): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90647402 | C | CCCTCCTC others(2104): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0145 | 1 | 276 | 0.0036 | 2111 | c.*52 others(2122): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2058 | chr15 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137721354 | C | CCAGACTT others(2104): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0083 | 1 | 170 | 0.0059 | 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 | a0001c0001t0026g0058 | 1 | 154 | 0.0065 | 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 | HG00408.hp2 HG00639.hp1 HG00738.hp1 others(41): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0010a0001c0001t0012others(7): Show | a0001c0001t0001g0064a0001c0001t0001g0065a0001c0001t0001g0066others(41): Show | 44 | 154 | 0.2857 | 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 | a0001c0001t0001g0072a0001c0001t0001g0082 | 2 | 154 | 0.0130 | 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 | a0002c0001t0001 | a0002c0001t0001g0059 | 1 | 330 | 0.0030 | 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(32): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0001c0029others(6): Show | a0001c0001t0001a0001c0005t0001a0001c0029t0001others(6): Show | a0001c0001t0001g0105a0001c0001t0001g0106a0001c0001t0001g0112others(31): Show | 35 | 262 | 0.1336 | 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 | 432 | 0.0023 | 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 | 375 | 0.0027 | 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 | a0002c0003t0002g0114 | 1 | 150 | 0.0067 | 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 | 126 | 0.0079 | 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 |
a0001a0013 | a0001c0009a0013c0031 | a0001c0009t0017a0013c0031t0053 | a0001c0009t0017g0127a0013c0031t0053g0137 | 2 | 218 | 0.0092 | 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 | a0001c0002t0002g0234a0001c0002t0002g0235 | 2 | 268 | 0.0075 | 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 | a0030 | a0030c0036 | a0030c0036t0001 | a0030c0036t0001g0076 | 1 | 104 | 0.0096 | 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 | 258 | 0.0039 | 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 | a0001c0001t0008g0052a0001c0001t0008g0053a0001c0001t0008g0054others(3): Show | 6 | 154 | 0.0390 | 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 | a0001c0001t0002g0035a0001c0001t0002g0036a0001c0001t0002g0037others(6): Show | 9 | 154 | 0.0584 | 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 | 301 | 0.0033 | 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 | a0024 | a0024c0017 | a0024c0017t0001 | a0024c0017t0001g0158 | 1 | 186 | 0.0054 | 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 | a0001c0001t0001g0260a0001c0028t0004g0047 | 2 | 262 | 0.0076 | 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 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0246 | 1 | 294 | 0.0034 | 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 | a0001c0001t0001g0191 | 1 | 292 | 0.0034 | 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 | a0001c0001t0001g0122a0001c0001t0001g0168a0001c0001t0001g0173others(3): Show | 6 | 292 | 0.0206 | 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 | a0001c0001t0024g0236 | 1 | 292 | 0.0034 | 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 | a0001c0001t0001g0184 | 1 | 292 | 0.0034 | 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 | a0001c0001t0001g0141a0001c0001t0001g0163a0001c0001t0001g0166others(4): Show | 7 | 292 | 0.0240 | 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 | a0001c0001t0001g0159 | 1 | 292 | 0.0034 | 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 | a0001c0001t0001g0198a0001c0001t0001g0200a0001c0001t0001g0203others(2): Show | 5 | 292 | 0.0171 | 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 | a0001c0001t0001g0201 | 1 | 292 | 0.0034 | 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 | 116 | 0.0086 | 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 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0124 | 1 | 370 | 0.0027 | 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 | a0001c0001t0001g0161 | 1 | 370 | 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 | 218 | 0.0046 | 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 | a0001c0001t0001g0109a0001c0001t0001g0110 | 2 | 328 | 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 | a0003c0004t0004g0009 | 1 | 268 | 0.0037 | 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 | a0001c0010t0009 | a0001c0010t0009g0045 | 1 | 106 | 0.0094 | 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 | a0001c0003t0001a0001c0007t0046 | a0001c0003t0001g0020a0001c0007t0046g0066 | 2 | 106 | 0.0189 | 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 | a0004c0003t0003g0057a0004c0003t0003g0058 | 2 | 262 | 0.0076 | 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 | 116 | 0.0086 | 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 | a0002c0002t0001g0005 | 1 | 445 | 0.0023 | 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 | a0002c0002t0001g0005 | 1 | 445 | 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 | a0003c0004t0003g0098 | 1 | 431 | 0.0023 | 2113 | c.*34 others(2124): Show |
WDR81 | ENSG00000167716.19 | transcript | ENST00000409644.6 | protein_coding | 2526 | chr17 | TogoVar |