Table 1. Genetic events detected in the peripheral blood of ISKS probands.

Case	Genetic variant TP53	Amino acid change	Mutation type	Condel23,24	Reported somatic cases22 *	Reported germline cases22 *	Mutant allele present in tumour	Heterozygosity in tumour	Pathogenic
Putative germline
1	c.72del	p.Lys24AsnfsX20	frameshift	NA	0	0	yes	LOH	yes
2	c.586C>T	p.Arg196X	nonsense	NA	241	13	yes	LOH	yes
3	c.559+1G>T	exon skipping	splice site	NA	10	0	yes	LOH	yes
4	c.329G>C	p.Arg110Pro	missense	del	15	0	yes	LOH	putative
5	c.783-1G>A	exon skipping	splice site	NA	7	0	yes	No LOH	yes
6	c.700T>C	p.Tyr234His	missense	del	33	0	yes	LOH	putative
7	c.853G>A	p.Glu285Lys	missense	del	186	5	yes	LOH	yes
8	c.997C>T	p.Arg333Cys	missense	del	0	0	yes	unknown	putative
9	c.473G>A	p.Arg158His	missense	del	113	9	yes	LOH	yes
10	c.877G>T	p.Gly293Trp	missense	del	6	2	yes	LOH	yes
11	c.847C>T	p.Arg283Cys	missense	del	29	10	yes	No LOH	yes
12	c.586C>T	p.Arg196X	nonsense	NA	241	13	yes	No LOH	yes
13	c.826_840del	p.Ala276_Arg280del	frameshift	NA	1	0	unknown	unknown	yes
14	c.843C>A	p.Asp281Glu	missense	del	28	0	yes	No LOH	putative
15	c.841G>A	p.Asp281Asn	missense	del	37	4	yes	No LOH	yes
16	c.469G>A	p.Val157Ile	missense	del/neut	19	0	yes	No LOH	putative
17	c.835G>A	p.Gly279Arg	missense	del	8	0	yes	No LOH	putative
Putative somatic
18	c.532C>G	p.His178Asp	missense	del	9	0	yes	LOH	yes
19	whole gene del	-	deletion	NA	0	1	-	-	yes
20	whole gene del	-	deletion	NA	0	1	-	-	yes

^*Database version R16 November, 2012; del: deleterious; neut: neutral; FS: frame shift; LOH: loss of heterozygosity; NA: not applicable. The assignment of pathogenicity was performed as outlined in supplementary Figure 3.