Table 4.
Locus | Whole-genome | Exome | |||||||||
---|---|---|---|---|---|---|---|---|---|---|---|
mutation | score | Quality score | Rank | Base calls | (A:C:G:T) | ||||||
qGT | GATK | qGT | GATK | Normal | Tumor | Father | Mother | ||||
1 | chr20:577556 | GG > AG | 61 | 282 | 99,99 | 1 | 1 | 0:0:90:0 | 27:0:64:0 | 1:0:104:0 | 1:0:90:0 |
2 | chr18:26965596 | AA > GA | 87 | 282 | 99,99 | 1 | 1 | 77:0:1:2 | 63:1:20:0 | 106:0:0:0 | 84:0:0:0 |
3 | chr9:139897201 | GG > AG | 59 | 91 | 66,99 | 16 | 73 | 0:0:23:0 | 6:0:18:0 | 0:0:24:0 | 0:0:21:0 |
4 | chr2:88942555 | GG > TG | 93 | 53 | - | 84 | - | 0:0:29:0 | 0:0:5:3 | 0:0:36:0 | 0:0:26:0 |
5 | chr2:88942554 | AA > CA | 93 | 52 | - | 86 | - | 30:0:0:0 | 0:0:6:3 | 0:0:36:0 | 0:0:26:0 |
6 | chr7:150399212 | CC > TC | 93 | 48 | 60,99 | 98 | 104 | 0:20:0:0 | 1:6:0:9 | 0:14:0:0 | 0:13:0:0 |
7 | chrX:129017457 | CC > AC | 41 | 46 | 45,99 | 109 | 221 | 0:15:0:0 | 5:6:0:0 | 0:16:0:0 | 0:12:0:0 |
8 | chr16:3681082 | CC > TC | 89 | 44 | 30,82 | 118 | 629 | 0:10:0:0 | 0:10:0:4 | 0:19:0:0 | 0:11:0:0 |
9 | chr10:107013067 | CC > AC | 30 | 36 | - | 186 | - | 0:52:0:0 | 5:57:0:1 | 0:74:0:0 | 0:72:1:0 |
10 | chr8:72396806 | TT > CT | 59 | 24 | - | 398 | - | 0:0:0:6 | 0:3:0:13 | 0:0:0:20 | 0:0:0:11 |
11 | chrX:21779651 | GG > TG | 89 | 21 | 36,99 | 483 | 412 | 2:0:13:0 | 0:0:7:8 | 0:0:9:0 | 0:0:14:0 |
12 | chr5:125673987 | CC > TC | 97 | 14 | 6,70 | 790 | 7393 | 0:2:0:0 | 0:7:0:3 | 0:6:0:0 | 0:5:0:0 |
13 | chr12:10156011 | GG > AG | 89 | 8 | - | - | - | 0:0:16:0 | 3:0:8:0 | 0:0:28:0 | 0:0:9:0 |
14 | chr19:43602412 | GG > AG | 32 | 5 | - | - | - | 0:0:10:0 | 2:0:10:0 | 0:1:17:0 | 0:0:10:0 |
15 | chr6:112619582 | GG > AG | 68 | 3 | - | - | - | 0:0:5:0 | 2:1:5:0 | 0:0:6:0 | 0:0:5:0 |
Somatic mutation calls of QUADGT (qGT columns) and the Genome Analysis Toolkit (GATK columns) were ranked by quality score (smaller of normal and tumor genotype call qualities in GATK's VCF output, and score of somatic call in QUADGT's VCF output that is q = - 10 log10(1 - p) for a mutation with posterior probability p).
Rank is "-" at loci where no somatic mutations were inferred by QUADGT or GATK. Genome coordinates refer to NCBI 36.1/hg18 genome build.