Table 3.

Characteristics of detected mutations in somatic tumor DNA and pituispheres.

Patient	CHR	Start position	Reference/ alternative allele	dbSNP no.	Consequence	Gene symbol	Localization in exon or intron|total no. of gene exons or introns	Protein position|amino acid change	Strand	CADD PHRED
PA01	1	156714911	GA/G	–	Frameshift	HDGF	3|6	80|F/X	−1	–
	3	113012861	ACTTAG/A	rs549443662	Intron	WDR52	34|34	–	−1	–
	6	29141632	T/C	–	Missense	OR2J2	1|1	74|Y/H	1	23.7
	14	68028745	G/A	rs780838899	Synonymous	PLEKHH1	6|29	166|A	1	9.941
	20	57484420	C/T	rs11554273	Missense	GNAS†	8|13	844|R/C	1	35
PA02	5	36064400	G/A	rs372124401	Synonymous	UGT3A2	2|7	49|H	−1	2.654
	13	76407224	C/G	–	Missense	LMO7	13|27	763|T/R	1	17.5
	20	57484420	C/T	rs11554273	Missense	GNAS†	8|13	844|R/C	1	35
PA03	1	160580606	G/A	–	Intron	SLAMF1	6|6	–	−1	1.52
	2	90229251	T/A	rs748067626	Missense	IGKV1D-42	2|2	24|I/N	1	23.2
	3	169802162	T/C	–	Synonymous	GPR160	4|4	134|C	1	0.067
	4	85693997	G/T	–	Missense	WDFY3	30|68	1614|L/I	−1	18.33
	6	111499541	G/T	–	Intron	SLC16A10	3|5	–	1	2.55
	20	57484420	C/T	rs11554273	Missense	GNAS†	8|13	844|R/C	1	35
PA04	1	52911473	T/TGG	–	Frameshift	ZCCHC11	24|30	1269–1270|–/X	−1	–
	2	65541087	C/A	rs146072471	Missense	SPRED2	6|6	269|V/L	−1	20.8
	6	56422247	T/C	–	Missense	DST	40|84	2214|N/S	−1	6.265
	16	11541848	G/A	–	Synonymous	CTD-3088G3.8	30|50	1475|L	−1	8.094
	17	18874965	C/T	rs138715863	Missense	FAM83G	6|6	727|V/I	−1	0.818
	19	6906514	C/T	rs371881714	Synonymous	EMR1	9|21	340|T	1	9.185
	19	23544625	C/T	rs403356	Missense	ZNF91	4|4	386|A/T	−1	9.578
PA05	1	153234011	A/ACTCTG GCGGCGG	rs11272549	Protein altering	LOR	2|2	196|C/SLAAG	1	–
	3	167183317	C/A	rs375412954	Missense	SERPINI2	5|10	208|G/V	−1	25.6
	14	91211257	A/G	–	Missense	TTC7B	4|20	152|L/S	−1	25.6
	19	38997556	C/T	–	Missense	RYR1‡	57|105	2927|L/P	1	28.6
	X	86880668	T/A	–	Missense	KLHL4‡	6|11	399|L/H	1	28.1

CHR, chromosome;

^†somatic variant previously detected in PA,

^‡in these genes other somatic variants have been previously detected in independent PA studies.