Table 2 SNV and SV calls affecting SETD2
SETD2 single nucleotide variants | ||||||||
|---|---|---|---|---|---|---|---|---|
DOG ID | Chromosome | Position | Reference allele | Alternate allele | Effect | Status | Coding nucleotide | Amino acid |
2 | 20 | 41,762,908 | A | AG | Frameshift | Somatic | c.6121dupG | p.Asp2041fs |
7 | 20 | 41,723,954 | A | T | Missense | Somatic | c.4991A > T | p.Tyr1664Phe |
7 | 20 | 41,763,013 | C | T | Stop gained | Somatic | c.6223C > T | p.Arg2075* |
16 | 20 | 41,713,105 | CAG | C | Frameshift | Somatic | c.3399_3400delGA | p.Asn1135fs |
16 | 20 | 41,723,904 | G | GT | Frameshift | Somatic | c.4947dupT | p.Thr1650fs |
24 | 20 | 41,710,750 | C | CA | Frameshift | Somatic | c.1046dupA | p.Ser350fs |
14 | 20 | 41,711,731 | CT | C | Frameshift | Somatic | c.2022delT | p.Ala676fs |
14 | 20 | 41,737,948 | TA | T | Frameshift | Somatic | c.5432delA | p.Asn1811fs |
21 | 20 | 41,712,888 | C | T | Missense | Germline | c.3178C > T | p.Arg1060Cys |
SETD2 structural variants | ||||||||
DOG ID | Chromosome start | Start position | Chromosome end | End position | SV type | Status | Effect | |
6 | 20 | 41,777,850 | 6 | 63,389,989 | BND | Somatic | Transcript ablation | |
8 | 20 | 41,707,519 | 20 | 41,725,779 | DEL | Somatic | Exon loss | |
9 | 20 | 41,677,050 | 20 | 57,146,991 | INV | Somatic | Inversion | |
12 | 20 | 40,619,935 | 20 | 41,682,808 | DUP | Somatic | Frameshift & splice variant | |
9 | 20 | 41,793,070 | 20 | 44,196,596 | INV | Somatic | Bidirectional gene fusion | |
12 | 20 | 41,797,955 | 4 | 51,687,909 | BND | Somatic | Gene fusion & frameshift | |
17 | 20 | 41,586,296 | 20 | 41,760,821 | DEL | Somatic | Feature ablation | |
