Table 2 Overview of new genetic diagnosis in our study cohort as a consequence of disease-causing variations identified with Chameleolyser

From: Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation

Sample	Chrom	Start	End	TypeOfEvent	GeneSymbol	OMIM
SAMPLE_24323	chr16	21747381	21747911	Conversion	OTOA	Deafness, autosomal recessive 22
SAMPLE_29813	chr16	21747381	21747911	Conversion	OTOA	Deafness, autosomal recessive 22
SAMPLE_30025	chr16	21747381	21747911	Conversion	OTOA	Deafness, autosomal recessive 22
SAMPLE_26907	chr5	70247601	70248925	Conversion	SMN1	Spinal muscular atrophy-1–4
SAMPLE_28821	chr5	70247601	70248925	Conversion	SMN1	Spinal muscular atrophy-1–4
SAMPLE_36286	chr5	70247601	70248925	Conversion	SMN1	Spinal muscular atrophy-1–4
SAMPLE_37053	chr5	70247601	70248925	Conversion	SMN1	Spinal muscular atrophy-1–4
SAMPLE_39455	chr5	70247601	70248925	Conversion	SMN1	Spinal muscular atrophy-1–4
SAMPLE_20848	chr5	70247601	70248925	Conversion	SMN1	Spinal muscular atrophy-1–4
SAMPLE_23606	chr15	43890861	43897797	Conversion	STRC	Deafness, autosomal recessive 16
SAMPLE_37062	chr16	21747381	21747911	Deletion	OTOA	Deafness, autosomal recessive 22
SAMPLE_37080	chr16	21747381	21747911	Deletion	OTOA	Deafness, autosomal recessive 22
SAMPLE_23649	chr5	70247601	70248925	Deletion	SMN1	Spinal muscular atrophy-1–4
SAMPLE_6943	chr5	70247601	70248925	Deletion	SMN1	Spinal muscular atrophy-1–4
SAMPLE_27880	chr5	70247601	70248925	Deletion	SMN1	Spinal muscular atrophy-1–4
SAMPLE_9901	chr5	70247601	70248925	Deletion	SMN1	Spinal muscular atrophy-1–4
SAMPLE_29108	chr5	70247601	70248925	Deletion	SMN1	Spinal muscular atrophy-1–4
SAMPLE_30394	chr5	70247601	70248925	Deletion	SMN1	Spinal muscular atrophy-1–4
SAMPLE_31929	chr5	70247601	70248925	Deletion	SMN1	Spinal muscular atrophy-1–4
SAMPLE_31987	chr5	70247601	70248925	Deletion	SMN1	Spinal muscular atrophy-1-4
SAMPLE_40265	chr5	70247601	70248925	Deletion	SMN1	Spinal muscular atrophy-1–4
SAMPLE_21563	chr15	43908399	43908399	hemizygous SNV/Indel: G > C	STRC	Deafness, autosomal recessive 16
		43890861	43894856	heterozygous deletion
SAMPLE_32502	chr15	43906154	43906154	hemizygous SNV/Indel: G > C	STRC	Deafness, autosomal recessive 16
		43890861	43894856	heterozygous deletion
SAMPLE_38648	chr15	43908409	43908409	hemizygous SNV/Indel: G > -	STRC	Deafness, autosomal recessive 16
		43890861	43894856	heterozygous deletion
SAMPLE_36262	chr15	43908184	43908184	hemizygous SNV/Indel: C > G	STRC	Deafness, autosomal recessive 16
		43890861	43894856	heterozygous deletion

The first column indicates in which sample the variant was identified. The second, third and fourth column respectively represent the chromosome, genomic start and end of the event (hg19). In the next column, the type of genetic event can be found. The sixth column indicates the respective gene symbol and in the last column the associated disease is displayed.

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Table 2 Overview of new genetic diagnosis in our study cohort as a consequence of disease-causing variations identified with Chameleolyser

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