Table S4: Homozygous variants after filtering in individual MS-II-1

TA-SHMA, Asaf, et al. Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility. PLoS genetics, 2018, 14. Jg., Nr. 8, S. e1007602.

Publication: https://doi.org/10.1371/journal.pgen.1007602

Description

Disclaimer

The publication Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility by Asaf Ta-Shma, Rim Hjeij, Zeev Perles, Gerard W. Dougherty, Ibrahim Abu Zahira, Stef J. F. Letteboer, Dinu Antony, Alaa Darwish, Dorus A. Mans, Sabrina Spittler, Christine Edelbusch, Sandra Cindrić, Tabea Nöthe-Menchen, Heike Olbrich, Friederike Stuhlmann, Isabella Aprea, Petra Pennekamp, Niki T. Loges, Oded Breuer, Avraham Shaag, Azaria J. J. T. Rein, Elif Yilmaz Gulec, Alper Gezdirici, Revital Abitbul, Nael Elias, Israel Amirav, Miriam Schmidts, Ronald Roepman, Orly Elpeleg, Heymut Omran is published under an open access license: https://creativecommons.org/licenses/by/4.0/. Granted rights: share — copy and redistribute the material in any medium or format and adapt — remix, transform, and build upon the material for any purpose, even commercially.

Curation by the MFGA team

Pie chart of selected column

Table

ARTIFACTID	CHR	GENE	STARTPOSITION	Ref	Alt	Func	ExonicFunc	AaChange	1000g2015aug_all	Esp6500siv2	E_xaalcl_all
rs764722596	5	ADCY2	7757704	G	GCCCCAGAGC	splicing					8.33E-03
rs769408537	7	AGAP3	150783911	A	G	exonic	missense SNV	c.A83G:p.Q28R			0
rs775200524	7	AGAP3	150783917	T	G	exonic	missense SNV	c.T89G:p.L30R			0
rs766984834	7	AGAP3	150783922	T	TGGGG	exonic	frameshift INS	c.94_95insGGGG:p.C32fs			0
rs776100575	7	AGAP3	150783919	GTCT	G	exonic	nonframeshift DEL	c.92_94del:p.31_32del			0
	X	CCDC120	48925533	G	A	exonic	missense SNV	c.G1883A:p.R628H	0.000264901		0.0030
rs554677567	14	CTTGAGE5	39784012	A	ATGTGTGTGTGTG	splicing			0.00479233
	15	DGUOX2	45401064	AGCTGGGCA	A	exonic	nonframeshift DEL	c.1300_1320del:p.434_440del
rs71711801	8	FDFT1	11666218	GTCCCAC	G	exonic	nonframeshift DEL	c.193_198del:p.65_66del
rs9274387	6	HLA-DQB1	32632646	G	T	exonic	missense SNV	c.C308A:p.T103N			0.0036
	19	KIR3DL3	55239223	G	A	exonic	missense SNV	c.G502A:p.V168I
rs774895599	15	LCMT2	43621201	A	C	exonic	missense SNV	c.T1487G:p.F496C			1.65E-02
rs766424	21	LINC00649	35334666	C	T	exonic	missense SNV	c.C377T:p.S126F
rs71132521	3	LNP1	100170600	A	ATCCTAGAAGG	exonic	nonframeshift INS	(1)
rs185005213	15	MNS1	56736015	G	A	exonic	stopgain	c.C724T:p.R242X	0.000399361	7.7e-05	0.0004
rs200532237	1	MST1L	17086085	G	GC	exonic	frameshift INS	c.811dupG:p.A271fs			0.0010
	X	OPN1LW	153421854	A	T	exonic	missense SNV	c.A830T:p.Y277F
	X	OPN1LW	153421859	G	T	exonic	missense SNV	c.G835T:p.V279F		0.0002	1.15E-02
	X	OPN1LW	153421844	A	G	exonic	missense SNV	c.A820G:p.I274V
	X	OPN1LW	153421847	T	C	exonic	missense SNV	c.T823C:p.F275L
	X	OPN1LW	153421849	T	G	exonic	missense SNV	c.T825G:p.F275L			1.15E-02
	X	OPN1MW2	153496198	T	A	exonic	missense SNV	c.T926A:p.F309Y			0.0010
	X	OPN1MW2	153496164	C	G	exonic	missense SNV	c.C892G:p.P298A	0.0015894		0.0030
	X	OPN1MW2	153496125	G	A	exonic	missense SNV	c.G853A:p.A285T			0.0050
rs7626448	3	PLCL2	16926607	T	C	exonic	unknown	UNKNOWN			0
rs368284573	3	PLCL2	16926544	T	G	exonic;splicing	unknown	UNKNOWN			0
	X	PLXNB3	153036027	C	T	exonic	missense SNV	c.C1940T:p.P647L			6.37E-02
rs142207431	21	POTED	14982886	G	A	exonic	missense SNV	c.G337A:p.G113S
rs117112505	21	POTED	14982952	A	G	exonic	missense SNV	c.A403G:p.I135V
rs78643169	21	POTED	15013735	A	G	exonic	missense SNV	c.A1603G:p.M535V
rs113840389	1	RNF19B	33430102	T	G	exonic	missense SNV	c.A185C:p.Q62P
rs369606728	8	RP1L1	10467637	T	TCCTCTAACTG	exonic	nonframeshift INS	(2)
rs201380414	13	SLAIN1	78272267	T	TGG	exonic	frameshift INS	c.219_220insGG:p.A73fs			0
rs67559364	3	SLC6A6	14444329	CT	C	splicing
rs145832874	15	SPPL2A	51041909	C	T	exonic	missense SNV	c.G101A:p.G34E	0.00259585	0.0011	0.0019
rs782385358	3	SYN2	12046256	GCCCCCCCCC	G	exonic	unknown	UNKNOWN			0
rs782162668	3	SYN2	12046268	GCGCGA	G	exonic	unknown	UNKNOWN			0
rs71624921	3	SYN2	12046222	A	C	exonic	unknown	UNKNOWN			0
rs2623876	3	SYN2	12046215	G	C	exonic	unknown	UNKNOWN			0
rs70940616	2	TMEM247	46707808	C	CAGCGGCAGC	exonic	nonframeshift INS	(3)
rs10634555	3	TRAK1	42251577	C	CGGA	exonic	nonframeshift INS	(4)
rs78042024	14	TTC6	38183928	G	A	exonic	missense SNV	c.G1688A:p.G563E	0.00439297		0.0028
rs776377841	4	USP17L15	9236859	A	T	exonic	missense SNV	c.A749T:p.N250I			0