Table 2 Three individuals with schizophrenia and TREs identified in the 3’UTR of genes DMPK and ATXN8OS.

Gene	OMIM ID Disease	Case ID /family members	Sex	AAO (y)	FHx of SCZ	FHx of OMIM disease	ID	Other features	Rare CNV	CTG repeat
										Chromosomal position (GRCh37/hg19)	Size
										Chromosomal position (GRCh37/hg19)	Normal	Pathogenic	EH-estimated	Validated
DMPK	160900 DM1	Proband 72	M	19	No		No	Episodes of severe constipation	Yes^VUS	chr19:46273174 -46273699	5–35	≥51	97	>200
		Father	M	NA	NA	Yes	No	Cataract	NA				NA	>200
		Mother	F	NA	NA		No	No	NA				NA	~9
ATXN8OS	603680 SCA8	Proband 329	M	21	Yes^a		No	No	No	chr13:70713162 -70713778	15-44	>110	116	>200
		Father	M	NA	NA		No	No	NA				NA	~20
		Mother	F	NA	NA	No	No	Unilateral “glaucoma”	NA				NA	>200
		Proband 11	F	17	No		Yes	Cataracts	Yes^VUS				91	>200
		Brother	M	NA	NA		NA	No	NA				NA	~20
		Mother	F	NA	NA	No	Yes	No	Yes^VUS				NA	~100

TREs identified in DMPK and ATXN8OS in three individuals with schizophrenia and their family members, together with their key clinical and genetic variables are shown
F female, M male, AAO age at onset, y years, NA not applicable, FHx family history, SCZ schizophrenia/psychosis, ID borderline to mild intellectual disability, CNV copy number variant, OMIM online Mendelian inheritance in man EH ExpansionHunter; See Supplementary Table S4 for a list of tandem repeat loci examined in this study
^aProband 329 has a brother with schizophrenia; VUS, CNV of uncertain clinical significance, e.g., both proband 11 and her mother are identified to have a ~790 Kb deletion of uncertain significance overlapping ZNF804A; see Supplementary Table S3 for all VUS CNVs

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