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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LCT_chr2_135782850_135842184 | 135833532 | C | CGCCTCCT others(3943): Show |
intron_variant | MODIFIER | NA18967.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0124 | 1 | 118 | 0.0085 | 3950 | c.641 others(3965): Show |
LCT | ENSG00000115850.10 | transcript | ENST00000264162.7 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
LCT_chr2_135782850_135842184 | 135833532 | C | CGCCTCCT others(3943): Show |
intron_variant | MODIFIER | HG01346.hp1 HG01358.hp1 HG01981.hp2 others(39): Show |
a0001a0002a0011 | a0001c0038a0001c0039a0002c0002others(4): Show | a0001c0038t0001a0001c0039t0001a0002c0002t0001others(6): Show | a0001c0038t0001g0166 a0001c0039t0001g0172 a0002c0002t0001g0121 others(39): Show |
42 | 159 | 0.2642 | 3950 | c.641 others(3965): Show |
LCT | ENSG00000115850.10 | transcript | ENST00000264162.7 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
LCT_chr2_135782850_135842184 | 135833532 | C | CGCCTCCT others(3943): Show |
intron_variant | MODIFIER | HG01952.hp1 HG01978.hp1 NA19088.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0160 |
3 | 120 | 0.0250 | 3950 | c.641 others(3965): Show |
LCT | ENSG00000115850.10 | transcript | ENST00000264162.7 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
LCT_chr2_135782850_135842184 | 135833532 | C | CGCCTCCT others(3943): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0112 | 1 | 118 | 0.0085 | 3950 | c.641 others(3965): Show |
LCT | ENSG00000115850.10 | transcript | ENST00000264162.7 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3944): Show |
intron_variant | MODIFIER | HG02074.hp1 HG02148.hp1 HG03492.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 a0001c0001t0001g0227 a0001c0001t0001g0233 others(6): Show |
10 | 162 | 0.0617 | 3951 | c.859 others(3968): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3944): Show |
intron_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0243 | 1 | 153 | 0.0065 | 3951 | c.859 others(3968): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3944): Show |
intron_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229 | 1 | 153 | 0.0065 | 3951 | c.859 others(3968): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(3944): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0058 | a0058c0110 | a0058c0110t0001 | a0058c0110t0001g0138 | 1 | 8 | 0.1250 | 3951 | c.723 others(3968): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
LCT_chr2_135782850_135842184 | 135833532 | C | CGCCTCCT others(3944): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0050 | 1 | 118 | 0.0085 | 3951 | c.641 others(3966): Show |
LCT | ENSG00000115850.10 | transcript | ENST00000264162.7 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
LCT_chr2_135782850_135842184 | 135833532 | C | CGCCTCCT others(3944): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0015 | a0015c0027 | a0015c0027t0001 | a0015c0027t0001g0026 | 1 | 118 | 0.0085 | 3951 | c.641 others(3966): Show |
LCT | ENSG00000115850.10 | transcript | ENST00000264162.7 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
LCT_chr2_135782850_135842184 | 135833532 | C | CGCCTCCT others(3944): Show |
intron_variant | MODIFIER | HG02300.hp1 HG03942.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0142 a0002c0002t0001g0157 |
2 | 119 | 0.0168 | 3951 | c.641 others(3966): Show |
LCT | ENSG00000115850.10 | transcript | ENST00000264162.7 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
LCT_chr2_135782850_135842184 | 135833532 | C | CGCCTCCT others(3944): Show |
intron_variant | MODIFIER | HG00673.hp1 HG00741.hp1 HG01070.hp1 others(25): Show |
a0001a0002 | a0001c0011a0002c0002a0002c0008others(2): Show | a0001c0011t0001a0002c0002t0001a0002c0002t0002others(5): Show | a0001c0011t0001g0131 a0001c0011t0001g0180 a0001c0011t0001g0190 others(25): Show |
28 | 145 | 0.1931 | 3951 | c.641 others(3966): Show |
LCT | ENSG00000115850.10 | transcript | ENST00000264162.7 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
LCT_chr2_135782850_135842184 | 135833532 | C | CGCCTCCT others(3944): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02615.hp2 HG03130.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0117 a0002c0002t0001g0126 a0002c0002t0001g0152 |
3 | 120 | 0.0250 | 3951 | c.641 others(3966): Show |
LCT | ENSG00000115850.10 | transcript | ENST00000264162.7 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
LCT_chr2_135782850_135842184 | 135833532 | C | CGCCTCCT others(3944): Show |
intron_variant | MODIFIER | NA18939.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0170 | 1 | 118 | 0.0085 | 3951 | c.641 others(3966): Show |
LCT | ENSG00000115850.10 | transcript | ENST00000264162.7 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31431886 | C | CAGGGTGG others(3944): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0291 | 1 | 181 | 0.0055 | 3951 | c.101 others(3970): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TSPAN3_chr15_77036404_77076109 | 77038246 | A | AGGGGAGA others(3944): Show |
downstream_gene_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 2 | 0.5000 | 3951 | c.*85 others(3962): Show |
TSPAN3 | ENSG00000140391.15 | transcript | ENST00000267970.9 | protein_coding | 3157 | chr15 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3945): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01884.hp1 HG02809.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248 a0001c0001t0001g0277 a0001c0001t0001g0278 others(3): Show |
6 | 158 | 0.0380 | 3952 | c.859 others(3969): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3945): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 153 | 0.0065 | 3952 | c.859 others(3969): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3945): Show |
intron_variant | MODIFIER | HG00639.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0232 a0001c0001t0001g0246 |
2 | 154 | 0.0130 | 3952 | c.859 others(3969): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3945): Show |
intron_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0263 | 1 | 153 | 0.0065 | 3952 | c.859 others(3969): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3945): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234 | 1 | 153 | 0.0065 | 3952 | c.859 others(3969): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3945): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0109 | 1 | 153 | 0.0065 | 3952 | c.859 others(3969): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(3945): Show |
intron_variant | MODIFIER | HG00280.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0086 a0001c0001t0012g0148 |
2 | 17 | 0.1176 | 3952 | c.164 others(3971): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
LCT_chr2_135782850_135842184 | 135833532 | C | CGCCTCCT others(3945): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01928.hp2 |
a0002 | a0002c0008a0002c0009 | a0002c0008t0001a0002c0009t0001 | a0002c0008t0001g0132 a0002c0009t0001g0312 |
2 | 119 | 0.0168 | 3952 | c.641 others(3967): Show |
LCT | ENSG00000115850.10 | transcript | ENST00000264162.7 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
LCT_chr2_135782850_135842184 | 135833532 | C | CGCCTCCT others(3945): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0311 | 1 | 118 | 0.0085 | 3952 | c.641 others(3967): Show |
LCT | ENSG00000115850.10 | transcript | ENST00000264162.7 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3946): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0235 | 1 | 153 | 0.0065 | 3953 | c.859 others(3970): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3946): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0261 | 1 | 153 | 0.0065 | 3953 | c.859 others(3970): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3946): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247 | 1 | 153 | 0.0065 | 3953 | c.859 others(3970): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
AP2A2_chr11_920870_1017240 | 964867 | A | ATGGAAAG others(3946): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0245 | 1 | 23 | 0.0435 | 3953 | c.137 others(3970): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 964867 | A | ATGGAAAG others(3946): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0145 | 1 | 23 | 0.0435 | 3953 | c.137 others(3970): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LCT_chr2_135782850_135842184 | 135833532 | C | CGCCTCCT others(3946): Show |
intron_variant | MODIFIER | NA18972.hp2 | a0002 | a0002c0023 | a0002c0023t0001 | a0002c0023t0001g0174 | 1 | 118 | 0.0085 | 3953 | c.641 others(3968): Show |
LCT | ENSG00000115850.10 | transcript | ENST00000264162.7 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3947): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 | 1 | 153 | 0.0065 | 3954 | c.859 others(3971): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3947): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0254 | 1 | 153 | 0.0065 | 3954 | c.859 others(3971): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3947): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0275 | 1 | 153 | 0.0065 | 3954 | c.859 others(3971): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
CRTC3_chr15_90524923_90650345 | 90647402 | C | CCCTCCTC others(3947): Show |
downstream_gene_variant | MODIFIER | HG02615.hp1 | a0002 | a0002c0002 | a0002c0002t0011 | a0002c0002t0011g0136 | 1 | 69 | 0.0145 | 3954 | c.*52 others(3965): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2058 | chr15 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(3947): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0130 | 1 | 8 | 0.1250 | 3954 | c.723 others(3971): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
UCKL1_chr20_63934829_63961416 | 63948608 | A | AGAGGGAG others(3947): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 | 1 | 317 | 0.0032 | 3954 | c.114 others(3971): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3948): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0206 | 1 | 153 | 0.0065 | 3955 | c.859 others(3972): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3948): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02559.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0207 a0001c0001t0007g0208 |
2 | 154 | 0.0130 | 3955 | c.859 others(3972): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3948): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02723.hp2 HG03540.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0024 | a0001c0001t0007g0340 a0001c0001t0007g0342 a0001c0001t0007g0344 others(1): Show |
4 | 156 | 0.0256 | 3955 | c.859 others(3972): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(3948): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 50 | 0.0200 | 3955 | c.147 others(3972): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3949): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0205 | 1 | 153 | 0.0065 | 3956 | c.859 others(3973): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3949): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0210 | 1 | 153 | 0.0065 | 3956 | c.859 others(3973): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3949): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0341 | 1 | 153 | 0.0065 | 3956 | c.859 others(3973): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
EHMT1_chr9_137614005_137841127 | 137716506 | G | GTGGTGTC others(3949): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0081 | 1 | 132 | 0.0076 | 3956 | c.86- others(3967): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGGAAGGG others(3949): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0013 | a0013c0019 | a0013c0019t0001 | a0013c0019t0001g0111 | 1 | 8 | 0.1250 | 3956 | c.723 others(3973): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(3949): Show |
upstream_gene_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 8 | 0.1250 | 3956 | c.-45 others(3965): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
RAB3B_chr1_51902956_51995700 | 51906869 | A | AAGGGAAG others(3949): Show |
downstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0047 | 1 | 13 | 0.0769 | 3956 | c.*13 others(3969): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1086 | chr1 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3950): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02055.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0211 a0001c0001t0013g0214 a0001c0001t0013g0215 |
3 | 155 | 0.0194 | 3957 | c.859 others(3974): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3950): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0345 | 1 | 153 | 0.0065 | 3957 | c.859 others(3974): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar |