Table 3 Top 50 regions in terms of combined score identified by our method. We give the position of the region, number of genomes that are mutated within the region, the combined score, and a classification of the region based annotations and our method of identifying hypermutated regions. We also manually annotated each region by viewing in the UCSC genome browser
From: Identification of coding and non-coding mutational hotspots in cancer genomes
rank | chr | Start | End | Mutated samples | Score | Automated annotation | Manual annotation |
|---|---|---|---|---|---|---|---|
1 | chr12 | 25398250 | 25398300 | 256 | 208.4 | driver | KRAS exon |
2 | chr17 | 7577100 | 7577150 | 68 | 98.1 | driver | TP53 exon |
3 | chr17 | 7577500 | 7577550 | 62 | 89.1 | driver | TP53 exon |
4 | chr3 | 41266100 | 41266150 | 65 | 84.0 | driver | CTNNB1 exon |
5 | chr17 | 7578400 | 7578450 | 50 | 72.0 | driver | TP53 exon |
6 | chr17 | 7577550 | 7577600 | 41 | 57.5 | driver | TP53 exon |
7 | chr17 | 7578250 | 7578300 | 31 | 46.1 | driver | TP53 exon |
8 | chr17 | 7578200 | 7578250 | 32 | 45.8 | driver | TP53 exon |
9 | chr17 | 7577050 | 7577100 | 29 | 40.9 | driver | TP53 exon |
10 | chr17 | 7578500 | 7578550 | 26 | 38.6 | driver | TP53 exon |
11 | chr10 | 96652800 | 96652850 | 14 | 30.1 | hotspot | Non-coding |
12 | chr12 | 6899300 | 6899350 | 3 | 28.6 | hotspot | CD4 intron |
13 | chr17 | 7578450 | 7578500 | 18 | 26.4 | driver | TP53 exon |
14 | chr17 | 7578350 | 7578400 | 17 | 25.5 | driver | TP53 exon |
15 | chr17 | 7574000 | 7574050 | 19 | 25.4 | driver | TP53 exon |
16 | chr17 | 7578550 | 7578600 | 13 | 23.3 | driver | TP53 exon |
17 | chr17 | 7577000 | 7577050 | 14 | 22.6 | driver | TP53 exon |
18 | chr17 | 7578150 | 7578200 | 13 | 22.5 | driver | TP53 exon |
19 | chr21 | 44524450 | 44524500 | 9 | 20.9 | driver | TP53 exon |
20 | chr3 | 41266050 | 41266100 | 10 | 20.2 | driver | CTNNB1 exon |
21 | chr3 | 195892250 | 195892300 | 18 | 19.5 | non-coding | Non-coding |
22 | chr9 | 21971100 | 21971150 | 12 | 17.9 | driver | CDKN2A exon |
23 | chr12 | 64749950 | 64750000 | 7 | 17.7 | hotspot | C12orf56 intron |
24 | chr17 | 7579300 | 7579350 | 10 | 16.8 | driver | TP53 exon |
25 | chr2 | 198266800 | 198266850 | 9 | 16.8 | driver | SF3B1 exon |
26 | chr12 | 25380250 | 25380300 | 20 | 16.8 | driver | KRAS exon |
27 | chr18 | 48591900 | 48591950 | 11 | 16.8 | driver | SMAD4 exon |
28 | chr3 | 178936050 | 178936100 | 9 | 16.7 | driver | PIK3CA exon |
29 | chr11 | 63881800 | 63881850 | 9 | 16.3 | hotspot | FLRT1 intron |
30 | chr13 | 50016900 | 50016950 | 8 | 16.0 | hotspot | CAB39L intron |
31 | chr19 | 11134250 | 11134300 | 6 | 15.7 | driver | SMARCA4 exon |
32 | chr15 | 64857000 | 64857050 | 9 | 15.5 | hotspot | ZNF609 intron |
33 | chr20 | 57484400 | 57484450 | 13 | 15.5 | driver | GNAS exon |
34 | chr16 | 3786700 | 3786750 | 5 | 15.4 | driver | CREBBP exon |
35 | chr17 | 17424850 | 17424900 | 7 | 14.9 | hotspot | PEMT intron |
36 | chr14 | 24895100 | 24895150 | 11 | 14.7 | hotspot | Non-coding / TF binding |
37 | chr18 | 48575150 | 48575200 | 7 | 14.7 | driver | SMAD4 exon |
38 | chr18 | 48604750 | 48604800 | 7 | 14.6 | driver | SMAD4 exon |
39 | chr19 | 11132500 | 11132550 | 5 | 14.6 | driver | SMARCA4 exon |
40 | chr17 | 79389900 | 79389950 | 9 | 14.3 | hotspot | BAHCC1 exon |
41 | chr18 | 48591800 | 48591850 | 8 | 14.2 | driver | SMAD4 exon |
42 | chr3 | 178952050 | 178952100 | 7 | 14.2 | driver | PIK3CA exon |
43 | chr7 | 76949650 | 76949700 | 6 | 14.0 | hotspot | GSAP intron |
44 | chr14 | 74239050 | 74239100 | 8 | 13.9 | hotspot | ELMSAN1 intron |
45 | chr17 | 56408600 | 56408650 | 5 | 13.9 | non-coding | MIR142 non-coding |
46 | chr22 | 46697350 | 46697400 | 5 | 13.6 | hotspot | GTSE1 intron |
47 | chr8 | 30717550 | 30717600 | 7 | 13.4 | hotspot | TEX15 exon-intron border |
48 | chr10 | 89692900 | 89692950 | 3 | 13.3 | driver | PTEN exon |
49 | chr17 | 7577600 | 7577650 | 5 | 13.3 | driver | TP53 splice site |
50 | chr4 | 819750 | 819800 | 6 | 13.2 | hotspot | CPLX1 intron |