Table 1.

Aggregated normalized full-length read counts by different splice groups. Each cell denotes the percentage of FL reads coming from all isoforms in that group for that sample-tissue. Those shown with 0.0% are either truly undetected or less than 0.1%. For a full table showing absolute and normalized read count for each isoform, see Supplementary Table 9.

Sample #	Carrier - 1			Carrier - 2				Carrier - 3			Normal - 1		Normal - 2			Normal - 3
Sample Type	testes	brain	muscle	testes	brain	heart	muscle	testes	heart	muscle	testes	brain	testes	brain	muscle	brain	heart	muscle
Group A %	1.5%	1.8%	2.0%	3.0%	0.7%	0.0%	1.4%	5.5%	2.4%	1.0%	0.0%	0.0%	0.4%	1.1%	0.0%	0.3%	5.2%	0.6%
Group B %	0.0%	0.4%	0.8%	0.0%	0.0%	0.0%	3.3%	0.1%	1.3%	0.0%	0.0%	0.0%	0.0%	0.0%	0.0%	0.0%	0.0%	0.0%
Group C %	95.4%	96.3%	89.2%	55.1%	90.6%	95.9%	85.7%	86.8%	73.8%	61.7%	93.5%	95.0%	93.1%	95.8%	73.5%	97.3%	93.3%	87.1%
Group D %	2.9%	0.8%	6.8%	0.0%	2.5%	0.0%	5.6%	7.1%	2.6%	11.2%	3.0%	2.7%	2.3%	2.1%	23.8%	0.2%	0.1%	12.2%
Group E %	0.2%	0.1%	0.1%	36.8%	6.2%	0.9%	0.7%	0.4%	17.4%	25.1%	0.0%	0.0%	0.0%	0.0%	0.0%	0.6%	0.0%	0.0%
Group F %	0.0%	0.6%	1.1%	5.1%	0.1%	3.2%	3.3%	0.1%	2.4%	1.0%	3.5%	2.3%	4.2%	1.1%	2.6%	1.6%	1.4%	0.0%