BTA | Position | REF | ALT | Frequency | Gene | Consequences | SIFT score | GERP score | Phastcons |
---|---|---|---|---|---|---|---|---|---|
3 | 95,015,373 | T | C | 0.050 | RNF11 | Splice site variant | Â | 0.862 | 0.976 |
4 | 112,030,024 | T | C | 0.470 | EZH2 | Missense variant I549M | 0.03 | 0.222 | 1 |
5 | 105,769,735 | C | T | 0.700 | CCND2 | Regulatory (ATAC-Seq, eQTL) |  | − 4.2 | 0 |
6 | 36,226,849 | A | AT | 0.050 |  | Intergenic variant |  | 0.078 | – |
14 | 76,227,910 | C | T | 0.140 | WWP1 | Missense variant R844Q | 0.00 | 0.530 | 1 |
16 | 57,725,284 | C | A | 0.720 | PAPPA2 | Missense variant P282T | 0.00 | – | 1 |
18 | 1,673,649 | A | AT | 0.270 |  | Regulatory (ATAC-Seq) |  | 0.149 | – |
19 | 47,095,175 | CAG | C | 0.030 | MRC2 | Frameshift variant | Â | 0.504 | 0 |
23 | 9,716,619 | G | A | 0.480 | ARMC12 | Regulatory (ATAC-Seq, eQTL) |  | − 0.678 | – |
25 | 25,933,247 | G | A | 0.010 | ATP2A1 | Missense variant R559C | 0.00 | 0.222 | 0.984 |
26 | 45,553,105 | G | A | 0.590 | ADAM12 | Missense variant A582V | 0.03 | 1.220 | 0.890 |