Table 1. Patient characteristics.

#	Patient & age	Source	Disease, germline mutation & SNP array CNV	Second hit mutationa	Additional events
1	Male, 61 years	Fluid	ADPLD	None detected	None
			Unknown
			Loss chr 9q (2.9Mb)
			CNN ROH chr 3p (12.7 Mb)
			CNN ROH chr 13q (5.4Mb)
2	Female, 58 years	Fluid	ADPLD	None detected	CNN LOH Chr 5q (3.6Mb)
			Unknown
3	Female, 60 years	Fluid	ADPLD	None detected	None detected
			Unknown
4	Female, 50 years	Fluid	ADPLD	None detected	None detected
			Unknown
5	Female, 59 years	Fluid	ADPLD	None detected	None detected
			Unknown
6	Female, 55 years	Fluid	ADPLD	None detected	None detected
			Unknown
7	Female, 83 years	Fluid	ADPKD	CNN LOH chr 16p (34.6 Mb)	CNN LOH chr 1p (6.9Mb)
			PKD1 hg38 chr16:g.2090007T>G		CNN LOH chr 12q (4.4Mb)
8.1	Female, 44 years	Fluid	ADPLD	CNN LOH chr 19p (12.9 Mb)	None detected
			PRKCSH hg38 chr19:g.11437972G>C
			Gain chr 2q13 (1.3Mb)
			Loss chr 2q13 (1.7Mb; including Bub1)
8.2	Female, 44 years	Epith.	ADPLD	CNN LOH chr 19p (1.5Mb)	Loss chr 7p (1.7Mb)
			PRKCSH hg38 chr19:g.11437972G>C
			Gain chr 2q13 (1.3Mb)
			Loss chr 2q13 (1.7Mb)
9	Female, 54 years	Epith.	Sporadic cyst	None	CNN LOH chr 2q (3.1Mb)
			-		CNN LOH chr 12q (3.7Mb)
10	Female, 57 years	Fluid	Sporadic cyst	None	None
			-
11	Female, 58 years	Epith.	ADPLD	CNN LOH chr 19p (1.7Mb)	Mosaic trisomy chr 7
			Unknown		CNN LOH chr 12q (3.6Mb)
12	Female, 47 years	Epith.	ADPLD	CNN LOH chr 19p (20Mb)	CNN LOH chr 6p (3.3Mb)
			PRKCSH hg38 chr19:g.11449074A>G
13	Female, 70 years	Fluid	ADPLD	Del chr 4q (39kb)	CNN LOH chr 5q (5.4 Mb)
			Unknown
14	Female, 52 years	Epith.	ADPLD	None	None
			Unknown
15	Female, 61 years	Epith.	ADPLD	None	CNN LOH chr 2q (3.2Mb)
			Unknown		CNN LOH chr 5p (3.2Mb)
16	Female, 51 years	Fluid	ADPLD	Del chr 6q (42 Mb)	None
			SEC63 hg38 chr6: g.107904719del
17	Female, 50 years	Epith.	ADPLD	None	CNN LOH chr 5q (3.1Mb)
			PRKCSH hg38 chr19:g.11449074A>G
18	Female, 52 years	Fluid	ADPKD PKD1 hg38 chr16 g.[2135508G>A(;)2090517_2090558delinsGGAC], c.[182C>T(;)12171_12212delinsGTCC], p.[Pro61Leu(;)Ser4057Argfs*87]	PKD1 hg38 chr16 g.[2135508G>A(;)2090517_2090558delinsGGAC], c.[182C>T(;)12171_12212delinsGTCC], p.[Pro61Leu(;)Ser4057Argfs*87]	CNN LOH chr 3p (3.4Mb) CNN LOH chr 19 (1.2Mb)CNN LOH chr 11 (1.3Mb)
19	Female, 47 years	Epith.	ADPLD	CNN LOH chr 19 (15.9Mb)	Trisomy X (entire)
			PRKCSH hg38 chr19:g.11437972G>C		CNN LOH chr 3p (6.1 Mb)
			47XXX
20	Female, 43 years	Fluid	Sporadic cyst	Gain CN 2.26 chr 16p (3.8Mb)	CNN LOH chr 1p (3.6Mb)
			-
21	Female, 61 years	Fluid	ADPLD	None	None
			PRKCSH hg38 chr19:g.11437972G>C
22	Female, 42 years	Fluid	ADPLD	CNN LOH chr 19 (19.6 Mb)	None
			PRKCSH hg38 chr19:g.11437972G>C
23	Female, 51 years	Fluid	ADPKD	None	None
			Unknown

Abbreviations: chr., chromosome; CNN, copy number neutral; CNV, copy number variation; Epith., epithelium; Gain, copy number gain; LOH, lossof- heterozygosity; Loss, copy number loss; ROH, region of homozygosity. Unknown germline variant indicates no variant in PRKCSH (NM_002743.3), SEC63 (NM_007214.4), or LRP5 (NM_002335.3) was found for ADPLD patients, and no variant in PKD1 (NM_001009944.2) or PKD2 (NM_000297.3) was found for ADPKD patients.

^aOr abnormality in PKD1, PKD2, PRKCSH, SEC63, or LRP5 in case of sporadic cysts.