Row Gene Name Cancer Tissue & Disease Names Gene Position on Human Genome Hotspot Position on cDNA Number of motif
Hot-spot Cold-spot
1 PIK3CA large intestine, breast, endometrium Chromosome 3: 180,349,005-180,435,189 forward strand c.3140A>G 3 1
2 APC large intestine, Stomach Chromosome 5: 112,101,483-112,209,834 forward strand c.4348C>T 2 1
3 CDKN2A haematopoietic and lymphoid tissue, central nervous system, lung Chromosome 9: 21,957,751-21,984,490 reverse strand c.238C>T 2 1
4 ATM haematopoietic and lymphoid tissue Chromosome 11: 107,598,769-107,745,036 forward strand. c.9023G>A 3 2
5 RB1 Lung, eye Chromosome 13: 47,775,884-47,954,027 forward strand. c.958C>T 0 2
6 VHL kidney Chromosome 3: 10,158,319-10,168,744 forward strand c.241C>T 1 0
7 PTEN Endometrium, glioma, breast Chromosome 10: 89,613,175-89,718,511 forward strand c.388C>T 4 0
8 FLT3 haematopoietic and lymphoid tissue Chromosome 13: 28576811:28675329:1 c.2503G>T 1 0
9 MSH6 central nervous system, large intestine, stomach Chromosome 7: 48009621:48034692:1 c.3656C>T 2 0
10 SMARCB1 soft tissue, central nervous system Chromosome 22: 24,129,150-24,176,701 forward strand. c.601C>T 0 1
11 ALK autonomic ganglia Chromosome 2: 29,415,640-30,144,432 c.3824G>A 0 1
12 CTNNB1 Liver, soft tissue Chromosome 3: 41,236,328-41,281,939 forward strand. c.121A>G & c.134C>T 4 2
13 FGFR3 Achondroplasia, Skin, Urinary tract Chromosome 4: 1,795,560-1,810,598 c.746C>G 3 0
14 CdK6 Skin Chromosome 7: 92,072,175-92,301,148 reverse strand. c.588C>T 0 3
15 PDGFRA soft tissue, stomach Chromosome 4: 55,095,264-55,164,412 forward strand. c.2525A>T 0 0
16 JAK2 haematopoietic and lymphoid tissue Chromosome 17: 7,512,445-7,531,642 reverse strand. c.1849G>T 2 1
17 KIT haematopoietic and lymphoid tissue, soft tissue Chromosome 4: 55,524,095-55,606,879 forward strand. c.2447A>T 5 0
18 MAP2K4 urinary tract, testis Chromosome 17: 11,864,866-11,987,865 forward strand. c.551C>T 2 0
19 RET Thyroid, adrenal gland Chromosome 10: 42,892,523-42,945,805 forward strand. c.2753T>C 0 0
20 P53 Breast, Large intestine, Upper aerodigestive tract Chromosome 17: 7572927-7579912 forward strand. c.743G>A 2 0
Table 1: Selected genes for analysis of common sequence motifs associated with intrinsic mutation hot spots.