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VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
MUTATION TYPE:	CHR: POS:

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SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD SHOW ONLY VARIANTS PRESENT AT HGMD

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1000 GENOMES FREQUENCY	EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES	DBSNP FREQUENCY	EXCLUDE ALL VARIANTS PRESENT IN DBSNP	ESP6500 FREQUENCY	EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE	EXCLUDE VARIANTS WITHOUT SIFT SCORE	POLYPHEN2 SCORE	EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD	EXCLUDE VARIANTS WITHOUT CADD SCORE	MCAP	EXCLUDE VARIANTS WITHOUT M-CAP SCORE

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Genes:
ARMC4, C10orf107, C1orf222, C7orf63, CCDC11, CCDC114, CCDC135, CCDC24, CCDC37, CCDC40, CCDC65, CXorf22, DCDC1, DNAAF1, DNAAF3, DNAH11, DNAH5, DNAH9, DNAI2, DNALI1, DRC1, DYX1C1, EFCAB2, FBXL13, GAS8, HEATR2, HYDIN, IQGAP3, KIF27, LRGUK, LRRC31, LRRC48, LRRC6, MCIDAS, NME8, PCDP1, PIH1D1, PIH1D2, RP11-156E8.1, RPGR, RSPH1, RSPH4A, RSPH9, RTDR1, RUVBL2, SPAG1, SPAG17, SPEF2, TCTE1, TTC40, WDR16, WDR92, ZBBX,

+ Genes associated with diseases 21

Genes at Omim

ARMC4, CCDC11, CCDC114, CCDC40, CCDC65, DNAAF1, DNAAF3, DNAH11, DNAH5, DNAH9, DNAI2, DRC1, GAS8, HYDIN, LRRC6, NME8, RPGR, RSPH1, RSPH4A, RSPH9, SPAG1,

ARMC4	Ciliary dyskinesia, primary, 23, 615451 (3)
CCDC11	Heterotaxy, visceral, 6, autosomal recessive, 614779 (3)
CCDC114	Ciliary dyskinesia, primary, 20, 615067 (3)
CCDC40	Ciliary dyskinesia, primary, 15, 613808 (3)
CCDC65	Ciliary dyskinesia, primary, 27, 615504 (3)
DNAAF1	Ciliary dyskinesia, primary, 13, 613193 (3)
DNAAF3	Ciliary dyskinesia, primary, 2, 606763 (3)
DNAH11	Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3)
DNAH5	Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)
DNAH9	Ciliary dyskinesia, primary, 40, 618300 (3)
DNAI2	Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444 (3)
DRC1	Ciliary dyskinesia, primary, 21, 615294 (3)
GAS8	Ciliary dyskinesia, primary, 33, 616726 (3)
HYDIN	Ciliary dyskinesia, primary, 5, 608647 (3)
LRRC6	Ciliary dyskinesia, primary, 19, 614935 (3)
NME8	Ciliary dyskinesia, primary, 6, 610852 (3)
RPGR	Cone-rod dystrophy, X-linked, 1, 304020 (3) Macular degeneration, X-linked atrophic, 300834 (3) Retinitis pigmentosa 3, 300029 (3) Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455 (3)
RSPH1	Ciliary dyskinesia, primary, 24, 615481 (3)
RSPH4A	Ciliary dyskinesia, primary, 11, 612649 (3)
RSPH9	Ciliary dyskinesia, primary, 12, 612650 (3)
SPAG1	Ciliary dyskinesia, primary, 28, 615505 (3)

Genes at Clinical Genomics Database

ARMC4, CCDC114, CCDC40, CCDC65, DNAAF1, DNAH11, DNAH5, DNAI2, DYX1C1, GAS8, LRRC6, NME8, RPGR, RSPH1, RSPH4A, RSPH9,

ARMC4	Ciliary dyskinesia, primary, 23
CCDC114	Ciliary dyskinesia, primary, 20
CCDC40	Ciliary dyskinesia, primary, 15
CCDC65	Ciliary dyskinesia, primary, 27
DNAAF1	Ciliary dyskinesia, primary, 13
DNAH11	Ciliary dyskinesia, primary, 7
DNAH5	Ciliary dyskinesia, primary, 3, with or without situs inversus
DNAI2	Ciliary dyskinesia, primary, 9
DYX1C1	Ciliary dyskinesia, primary 25
GAS8	Ciliary dyskinesia, primary, 33
LRRC6	Ciliary dyskinesia, primary 19
NME8	Ciliary dyskinesia, primary, 6
RPGR	Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness
RSPH1	Ciliary dyskinesia, primary, 24
RSPH4A	Ciliary dyskinesia, primary, 11
RSPH9	Ciliary dyskinesia, primary, 12

Genes at HGMD

Summary

Number of Variants: 452
Number of Genes: 53

Export to: CSV

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ARMC4
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	20160-01-01_s14-kopie	10	rs7893462 dbSNP Clinvar	28228865	7902.42	A	G	PASS	1/1	296	SYNONYMOUS_CODING	LOW	SILENT	0.53315	0.53310	0.49193				None None	None None None None	ARMC4\|0.02617115\|71.23%
	View	20160-01-01_s14-kopie	10	rs7920186 dbSNP Clinvar	28257852	186.6	C	T	SB	0/1	261	NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	MODERATE	MISSENSE	0.11122	0.11120		0.46	0.03		None None	None None None None	ARMC4\|0.02617115\|71.23%
C10orf107
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	20160-01-01_s14-kopie	10	rs1992625 dbSNP Clinvar	63520698	9068.82	T	C	PASS	1/1	342	SYNONYMOUS_CODING	LOW	SILENT	0.87201	0.87200	0.18156				None None	None None None None	C10orf107\|0.277213376\|29.34%
C1orf222
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	20160-01-01_s14-kopie	1	rs2803337 dbSNP Clinvar	1875859	6315.6	A	G	PASS	1/1	228	SYNONYMOUS_CODING	LOW	SILENT	0.39776	0.39780					None None	None None None None	CFAP74\|0.001720148\|91.8%
	View	20160-01-01_s14-kopie	1	rs2803295 dbSNP Clinvar	1861582	14412.43	C	T	PASS	1/1	505	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.35583	0.35580		0.00	0.99		None None	None None None None	CFAP74\|0.001720148\|91.8%
	View	20160-01-01_s14-kopie	1	rs2803326 dbSNP Clinvar	1873514	9459.44	A	G	PASS	1/1	344	SYNONYMOUS_CODING	LOW	SILENT	0.59245	0.59250					None None	None None None None	CFAP74\|0.001720148\|91.8%
	View	20160-01-01_s14-kopie	1	rs2803327 dbSNP Clinvar	1873525	9402.87	T	C	PASS	1/1	351	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.59245	0.59250		0.49	0.00		None None	None None None None	CFAP74\|0.001720148\|91.8%
	View	20160-01-01_s14-kopie	1	rs2803336 dbSNP Clinvar	1875858	6306.22	C	G	PASS	1/1	227	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.38498	0.38500		0.04	0.99		None None	None None None None	CFAP74\|0.001720148\|91.8%
C7orf63
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	20160-01-01_s14-kopie	7	rs1134956 dbSNP Clinvar	89938680	1024.26	C	T	PASS	1/1	36	NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	MODERATE	MISSENSE	0.38059	0.38060	0.49745	0.00	1.00		None None	None None None None	CFAP69\|0.131174602\|45.73%
	View	20160-01-01_s14-kopie	7	rs7803620 dbSNP Clinvar	89938588	781.79	C	G	PASS	1/1	30	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.92213	0.92210	0.14475	1.00	0.00		None None	None None None None	CFAP69\|0.131174602\|45.73%
	View	20160-01-01_s14-kopie	7	rs1029365 dbSNP Clinvar	89912301	5509.78	G	A	PASS	1/1	190	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.88419	0.88420	0.20474	0.69	0.01		None None	None None None None	CFAP69\|0.131174602\|45.73%
CCDC11
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	20160-01-01_s14-kopie	18	rs35193847 dbSNP Clinvar	47777244	2542.97	C	T	PASS	0/1	212	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.19349	0.19350	0.30506	0.04	0.25		None None	None None None None	CFAP53\|0.02234551\|72.99%
CCDC114
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	20160-01-01_s14-kopie	19	rs7252988 dbSNP Clinvar	48800338	4444.46	A	G	PASS	0/1	432	SYNONYMOUS_CODING	LOW	SILENT	0.46466	0.46470	0.37744				None None	None None None None	CCDC114\|0.001933114\|91.16%
	View	20160-01-01_s14-kopie	19	rs2242463 dbSNP Clinvar	48806977	3738.37	G	A	PASS	0/1	342	SYNONYMOUS_CODING	LOW	SILENT	0.15336	0.15340	0.17884				None None	None None None None	CCDC114\|0.001933114\|91.16%
	View	20160-01-01_s14-kopie	19	rs28582401 dbSNP Clinvar	48807367	4001.84	C	A	PASS	0/1	329	SYNONYMOUS_CODING	LOW	SILENT	0.15395	0.15400	0.17938				None None	None None None None	CCDC114\|0.001933114\|91.16%
CCDC135
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	20160-01-01_s14-kopie	16	rs113808967 dbSNP Clinvar	57761248	6367.77	C	T	PASS	1/1	246	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.01118	0.01118	0.00039	0.27	0.05		None None	None None None None	DRC7\|0.042533795\|64.93%
	View	20160-01-01_s14-kopie	16	rs369743078 dbSNP Clinvar	57764972	10073.94	C	T	PASS	1/1	343	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE			0.00008	0.00	1.00		None None	None None None None	DRC7\|0.042533795\|64.93%
	View	20160-01-01_s14-kopie	16	rs116083646 dbSNP Clinvar	57734173	8355.44	T	C	PASS	1/1	303	SYNONYMOUS_CODING	LOW	SILENT	0.01018	0.01018	0.00031				None None	None None None None	DRC7\|0.042533795\|64.93%
CCDC24
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	20160-01-01_s14-kopie	1	rs2301983 dbSNP Clinvar	44461822	5847.81	C	T	PASS	0/1	435	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.05671	0.05671	0.03343	0.00	0.55		None None	None None None None	CCDC24\|0.018864234\|74.73%,SLC6A9\|0.487510755\|16.43%
CCDC37
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	20160-01-01_s14-kopie	3	rs149511023 dbSNP Clinvar	126137556	5040.04	G	A	PASS	0/1	452	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.00280	0.00280	0.00370	0.04	0.85		None None	None None None None	CCDC37\|0.004773865\|86.13%
CCDC40
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	20160-01-01_s14-kopie	17	rs12952612 dbSNP Clinvar	78071052	1920.61	T	C	PASS	0/1	186	SYNONYMOUS_CODING	LOW	SILENT	0.71426	0.71430	0.26281				None None	None None None None	CCDC40\|0.000987297\|95.52%
	View	20160-01-01_s14-kopie	17	rs2289527 dbSNP Clinvar	78013724	9762.08	G	C	PASS	1/1	339	SYNONYMOUS_CODING	LOW	SILENT	0.95727	0.95730	0.00622				None None	None None None None	CCDC40\|0.000987297\|95.52%
	View	20160-01-01_s14-kopie	17	rs2289531 dbSNP Clinvar	78023722	3600.48	C	T	PASS	0/1	362	SYNONYMOUS_CODING	LOW	SILENT	0.11222	0.11220	0.09718				None None	None None None None	CCDC40\|0.000987297\|95.52%
	View	20160-01-01_s14-kopie	17	rs35578653 dbSNP Clinvar	78055758	5063.05	T	G	PASS	0/1	468	SYNONYMOUS_CODING	LOW	SILENT	0.46426	0.46430	0.47895				None None	None None None None	CCDC40\|0.000987297\|95.52%
	View	20160-01-01_s14-kopie	17	rs7210658 dbSNP Clinvar	78063957	1982.86	A	G	PASS	0/1	323	None	None	None	0.16454	0.16450		0.05	0.00		None None	None None None None	CCDC40\|0.000987297\|95.52%
	View	20160-01-01_s14-kopie	17	rs7210664 dbSNP Clinvar	78063964	1660.75	A	G	PASS	0/1	311	None	None	None	0.16394	0.16390					None None	None None None None	CCDC40\|0.000987297\|95.52%
	View	20160-01-01_s14-kopie	17	rs7210665 dbSNP Clinvar	78063966	1602.93	A	G	PASS	0/1	309	None	None	None	0.16414	0.16410		0.01	0.00		None None	None None None None	CCDC40\|0.000987297\|95.52%
	View	20160-01-01_s14-kopie	17	rs7210679 dbSNP Clinvar	78063996	1013.24	A	G	PASS	0/1	291	None	None	None	0.19109	0.19110		0.18	0.00		None None	None None None None	CCDC40\|0.000987297\|95.52%
	View	20160-01-01_s14-kopie	17	rs4889953 dbSNP Clinvar	78064015	775.89	G	C	PASS	0/1	259	None	None	None	0.67252	0.67250		0.18	0.00		None None	None None None None	CCDC40\|0.000987297\|95.52%
	View	20160-01-01_s14-kopie	17	rs7207166 dbSNP Clinvar	78064064	741.41	G	A	PASS	0/1	237	None	None	None	0.75599	0.75600		0.06	0.98		None None	None None None None	CCDC40\|0.000987297\|95.52%
	View	20160-01-01_s14-kopie	17	rs10693712 dbSNP Clinvar	78064145	5226.09	A	ACAC	PASS	0/1	294	None	None	None	0.65475	0.65480					None None	None None None None	CCDC40\|0.000987297\|95.52%
CCDC65
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	20160-01-01_s14-kopie	12	rs4760600 dbSNP Clinvar	49314994	2394.27	A	G	PASS	0/1	312	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.30811	0.30810	0.30617	0.00	1.00		None None	None None None None	CCDC65\|0.09413439\|52.33%
	View	20160-01-01_s14-kopie	12	rs10875894 dbSNP Clinvar	49314862	849.23	C	A	PASS	0/1	76	SYNONYMOUS_CODING	LOW	SILENT	0.30831	0.30830	0.30532				None None	None None None None	CCDC65\|0.09413439\|52.33%
	View	20160-01-01_s14-kopie	12	rs10875893 dbSNP Clinvar	49312593	2792.39	A	G	PASS	0/1	300	SYNONYMOUS_CODING	LOW	SILENT	0.30771	0.30770	0.30632				None None	None None None None	CCDC65\|0.09413439\|52.33%
	View	20160-01-01_s14-kopie	12	rs10747556 dbSNP Clinvar	49308284	4385.85	A	G	PASS	0/1	396	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.30990	0.30990	0.30747	0.53	0.00		None None	None None None None	CCDC65\|0.09413439\|52.33%
CXorf22
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	20160-01-01_s14-kopie	X	.	35969354	2120.26	A	C	PASS	0/1	267	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				0.19	0.01		None None	None None None None	CFAP47\|0.008493492\|82.15%
DCDC1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	20160-01-01_s14-kopie	11	rs158633 dbSNP Clinvar	30974115	5182.38	C	A	PASS	1/1	204	NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	MODERATE	MISSENSE	0.11302	0.11300	0.08712	0.02	1.00		None None	None None None None	DCDC1\|0.277336592\|29.32%
	View	20160-01-01_s14-kopie	11	rs2616812 dbSNP Clinvar	31263112	6155.13	A	G	PASS	1/1	224	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.76418	0.76420		1.00	0.00		None None	None None None None	DCDC1\|0.277336592\|29.32%
	View	20160-01-01_s14-kopie	11	rs2616815 dbSNP Clinvar	31327316	2239.12	C	T	PASS	0/1	242	SYNONYMOUS_CODING	LOW	SILENT	0.67971	0.67970	0.26381				None None	None None None None	DCDC1\|0.277336592\|29.32%
DNAAF1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	20160-01-01_s14-kopie	16	rs2288023 dbSNP Clinvar	84209864	2739.3	G	C	PASS	0/1	313	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.26757	0.26760	0.27331	0.12	0.01		None None	None None None None	DNAAF1\|0.000486573\|98.51%
	View	20160-01-01_s14-kopie	16	rs2288020 dbSNP Clinvar	84209738	3078.6	T	C	PASS	0/1	323	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.26737	0.26740	0.27254	0.52	0.03		None None	None None None None	DNAAF1\|0.000486573\|98.51%
	View	20160-01-01_s14-kopie	16	rs2288019 dbSNP Clinvar	84209634	7045.27	C	G	PASS	1/1	226	SYNONYMOUS_CODING	LOW	SILENT	0.53175	0.53170	0.48931				None None	None None None None	DNAAF1\|0.000486573\|98.51%
	View	20160-01-01_s14-kopie	16	rs2288022 dbSNP Clinvar	84209816	2738.18	T	C	PASS	0/1	298	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.26737	0.26740	0.26900	0.36	0.00		None None	None None None None	DNAAF1\|0.000486573\|98.51%
DNAAF3
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	20160-01-01_s14-kopie	19	rs890872 dbSNP Clinvar	55671337	8996.53	C	T	PASS	1/1	352	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	1.00000	1.00000		0.69	0.00		None None	None None None None	DNAAF3\|0.005278927\|85.46%
DNAH11
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	20160-01-01_s14-kopie	7	rs55666134 dbSNP Clinvar	21723431	1512.03	G	A	PASS	0/1	216	SYNONYMOUS_CODING	LOW	SILENT	0.10224	0.10220	0.11616				None None	None None None None	DNAH11\|0.38215847\|21.9%
	View	20160-01-01_s14-kopie	7	rs72655988 dbSNP Clinvar	21621631	1276.49	G	A	PASS	0/1	174	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.03794	0.03794	0.04308	0.18	0.21		None None	None None None None	DNAH11\|0.38215847\|21.9%
	View	20160-01-01_s14-kopie	7	rs3827657 dbSNP Clinvar	21641218	6295.33	G	A	PASS	1/1	236	SYNONYMOUS_CODING	LOW	SILENT	0.75379	0.75380	0.19933				None None	None None None None	DNAH11\|0.38215847\|21.9%
	View	20160-01-01_s14-kopie	7	rs10224537 dbSNP Clinvar	21640405	8519.91	A	G	PASS	1/1	304	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.76777	0.76780	0.18471	0.55	0.00		None None	None None None None	DNAH11\|0.38215847\|21.9%
	View	20160-01-01_s14-kopie	7	rs6963535 dbSNP Clinvar	21628237	2180.86	C	T	PASS	1/1	83	SYNONYMOUS_CODING	LOW	SILENT	0.99062	0.99060	0.00987				None None	None None None None	DNAH11\|0.38215847\|21.9%
	View	20160-01-01_s14-kopie	7	rs4615458 dbSNP Clinvar	21630982	4777.3	A	G	PASS	0/1	433	SYNONYMOUS_CODING	LOW	SILENT	0.53035	0.53040	0.43460				None None	None None None None	DNAH11\|0.38215847\|21.9%
	View	20160-01-01_s14-kopie	7	rs12537531 dbSNP Clinvar	21932044	7774.36	C	T	PASS	1/1	277	NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	MODERATE	MISSENSE	0.36841	0.36840	0.36785	0.49	0.00		None None	None None None None	DNAH11\|0.38215847\|21.9%
	View	20160-01-01_s14-kopie	7	rs6461613 dbSNP Clinvar	21924014	2944.21	A	G	PASS	1/1	106	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.62240	0.62240	0.28325	0.19	0.01		None None	None None None None	DNAH11\|0.38215847\|21.9%
	View	20160-01-01_s14-kopie	7	rs4722067 dbSNP Clinvar	21901566	3861.45	T	C	PASS	0/1	320	SYNONYMOUS_CODING	LOW	SILENT	0.63439	0.63440	0.24229				None None	None None None None	DNAH11\|0.38215847\|21.9%
	View	20160-01-01_s14-kopie	7	rs10950854 dbSNP Clinvar	21599233	1559.56	C	T	PASS	0/1	158	SYNONYMOUS_CODING	LOW	SILENT	0.54293	0.54290	0.45360				None None	None None None None	DNAH11\|0.38215847\|21.9%
	View	20160-01-01_s14-kopie	7	rs17144747 dbSNP Clinvar	21639572	2849.84	A	G	PASS	0/1	275	SYNONYMOUS_CODING	LOW	SILENT	0.07588	0.07588	0.06831				None None	None None None None	DNAH11\|0.38215847\|21.9%
	View	20160-01-01_s14-kopie	7	rs2214326 dbSNP Clinvar	21856151	4958.84	G	A	PASS	0/1	376	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.48423	0.48420	0.34773	0.77	0.00		None None	None None None None	DNAH11\|0.38215847\|21.9%
	View	20160-01-01_s14-kopie	7	rs9639393 dbSNP Clinvar	21779278	1646.51	A	G	PASS	0/1	211	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.37280	0.37280	0.46862	0.06	0.08		None None	None None None None	DNAH11\|0.38215847\|21.9%
	View	20160-01-01_s14-kopie	7	rs1109806 dbSNP Clinvar	21778449	898.49	C	T	PASS	0/1	161	SYNONYMOUS_CODING	LOW	SILENT	0.53954	0.53950	0.33524				None None	None None None None	DNAH11\|0.38215847\|21.9%
	View	20160-01-01_s14-kopie	7	rs2072221 dbSNP Clinvar	21775443	7251.57	G	A	PASS	1/1	255	SYNONYMOUS_CODING	LOW	SILENT	0.01118	0.75540	0.14250				None None	None None None None	DNAH11\|0.38215847\|21.9%
	View	20160-01-01_s14-kopie	7	rs12536928 dbSNP Clinvar	21765452	2546.19	C	T	PASS	0/1	230	SYNONYMOUS_CODING	LOW	SILENT	0.36282	0.36280	0.43883				None None	None None None None	DNAH11\|0.38215847\|21.9%
	View	20160-01-01_s14-kopie	7	rs10269582 dbSNP Clinvar	21640361	3023.54	T	C	PASS	0/1	242	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.22045	0.22040	0.35193	0.86	0.22		None None	None None None None	DNAH11\|0.38215847\|21.9%
	View	20160-01-01_s14-kopie	7	rs72655982 dbSNP Clinvar	21609691	674.32	C	T	PASS	0/1	97	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.03754	0.03754	0.04302	0.51	0.00		None None	None None None None	DNAH11\|0.38215847\|21.9%
DNAH5
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	20160-01-01_s14-kopie	5	rs3213936 dbSNP Clinvar	13913885	2300.65	A	G	PASS	1/1	81	SYNONYMOUS_CODING	LOW	SILENT	0.52875	0.52880	0.42965				None None	None None None None	DNAH5\|0.235040337\|32.91%
	View	20160-01-01_s14-kopie	5	rs339445 dbSNP Clinvar	13944512	5954.14	A	C	PASS	1/1	221	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.91294	0.91290	0.07443	1.00	0.00		None None	None None None None	DNAH5\|0.235040337\|32.91%
	View	20160-01-01_s14-kopie	5	rs3734111 dbSNP Clinvar	13701525	1861.45	T	C	PASS	1/1	72	SYNONYMOUS_CODING	LOW	SILENT	0.44768	0.44770	0.48601				None None	None None None None	DNAH5\|0.235040337\|32.91%
	View	20160-01-01_s14-kopie	5	rs3734110 dbSNP Clinvar	13701536	1398.51	T	C	PASS	1/1	47	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.50359	0.50360	0.46571	0.22	0.00		None None	None None None None	DNAH5\|0.235040337\|32.91%
	View	20160-01-01_s14-kopie	5	rs30169 dbSNP Clinvar	13719022	8938.18	T	G	PASS	1/1	325	SYNONYMOUS_CODING	LOW	SILENT	0.41913	0.41910	0.41227				None None	None None None None	DNAH5\|0.235040337\|32.91%
	View	20160-01-01_s14-kopie	5	rs30168 dbSNP Clinvar	13719089	8666.18	G	A	PASS	1/1	334	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.46546	0.46550	0.46217	0.87	0.00		None None	None None None None	DNAH5\|0.235040337\|32.91%
	View	20160-01-01_s14-kopie	5	rs2401809 dbSNP Clinvar	13754394	10068.54	C	T	PASS	1/1	374	SYNONYMOUS_CODING	LOW	SILENT	0.32828	0.32830	0.35530				None None	None None None None	DNAH5\|0.235040337\|32.91%
	View	20160-01-01_s14-kopie	5	rs10078391 dbSNP Clinvar	13811775	5154.85	T	C	PASS	1/1	187	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.26218	0.26220	0.20368	0.01	0.19		None None	None None None None	DNAH5\|0.235040337\|32.91%
	View	20160-01-01_s14-kopie	5	rs1348689 dbSNP Clinvar	13829799	6974.47	G	A	PASS	1/1	235	SYNONYMOUS_CODING	LOW	SILENT	0.44329	0.44330	0.39566				None None	None None None None	DNAH5\|0.235040337\|32.91%
	View	20160-01-01_s14-kopie	5	rs10041113 dbSNP Clinvar	13845045	6406.67	G	A	PASS	1/1	245	SYNONYMOUS_CODING	LOW	SILENT	0.45467	0.45470	0.39935				None None	None None None None	DNAH5\|0.235040337\|32.91%
	View	20160-01-01_s14-kopie	5	rs1445823 dbSNP Clinvar	13900345	5438.16	A	G	PASS	1/1	192	SYNONYMOUS_CODING	LOW	SILENT	0.60124	0.60120	0.47786				None None	None None None None	DNAH5\|0.235040337\|32.91%
	View	20160-01-01_s14-kopie	5	rs1530498 dbSNP Clinvar	13902220	2636.13	T	C	PASS	1/1	107	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.38838	0.38840	0.33200	0.56	0.02		None None	None None None None	DNAH5\|0.235040337\|32.91%
DNAH9
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	20160-01-01_s14-kopie	17	rs17612861 dbSNP Clinvar	11835331	2236.55	G	A	PASS	0/1	215	NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	MODERATE	MISSENSE	0.21006	0.21010	0.24958	0.07	0.25		None None	None None None None	DNAH9\|0.176098085\|39.51%
	View	20160-01-01_s14-kopie	17	rs1859887 dbSNP Clinvar	11833365	4636.69	G	A	PASS	0/1	416	SYNONYMOUS_CODING	LOW	SILENT	0.22145	0.22140	0.25727				None None	None None None None	DNAH9\|0.176098085\|39.51%
	View	20160-01-01_s14-kopie	17	rs2286303 dbSNP Clinvar	11833287	3787.02	A	G	PASS	0/1	412	SYNONYMOUS_CODING	LOW	SILENT	0.22244	0.22240	0.25750				None None	None None None None	DNAH9\|0.176098085\|39.51%
	View	20160-01-01_s14-kopie	17	rs9892256 dbSNP Clinvar	11523082	7806.97	A	G	PASS	1/1	280	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.99022	0.99020	0.00823	1.00	0.00		None None	None None None None	DNAH9\|0.176098085\|39.51%
	View	20160-01-01_s14-kopie	17	rs8071438 dbSNP Clinvar	11583089	8659.15	T	C	PASS	1/1	318	SYNONYMOUS_CODING	LOW	SILENT	0.94788	0.94790	0.03168				None None	None None None None	DNAH9\|0.176098085\|39.51%
	View	20160-01-01_s14-kopie	17	rs8070256 dbSNP Clinvar	11786951	3478.54	T	C	PASS	0/1	308	SYNONYMOUS_CODING	LOW	SILENT	0.38598	0.38600	0.40604				None None	None None None None	DNAH9\|0.176098085\|39.51%
	View	20160-01-01_s14-kopie	17	rs3744578 dbSNP Clinvar	11648332	4476.59	C	T	PASS	0/1	426	SYNONYMOUS_CODING	LOW	SILENT	0.77017	0.77020	0.26411				None None	None None None None	DNAH9\|0.176098085\|39.51%
	View	20160-01-01_s14-kopie	17	rs61743635 dbSNP Clinvar	11650958	4992.3	G	A	PASS	0/1	420	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.08586	0.08586	0.08027	1.00	0.01		None None	None None None None	DNAH9\|0.176098085\|39.51%
	View	20160-01-01_s14-kopie	17	rs12449553 dbSNP Clinvar	11757556	5782.74	C	G	PASS	0/1	479	SYNONYMOUS_CODING	LOW	SILENT	0.00200	0.40360	0.39605				None None	None None None None	DNAH9\|0.176098085\|39.51%
DNAI2
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	20160-01-01_s14-kopie	17	rs28725418 dbSNP Clinvar	72306291	2844.52	G	A	PASS	0/1	287	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.20248	0.20250	0.17961	0.22	0.00		None None	None None None None	DNAI2\|0.045144108\|64.18%
	View	20160-01-01_s14-kopie	17	rs8073660 dbSNP Clinvar	72301432	4250.49	A	G	PASS	0/1	374	SYNONYMOUS_CODING	LOW	SILENT	0.39876	0.39880	0.46548				None None	None None None None	DNAI2\|0.045144108\|64.18%
	View	20160-01-01_s14-kopie	17	rs1979370 dbSNP Clinvar	72308319	5806.13	G	A	PASS	0/1	405	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.74082	0.74080	0.22974	0.29	0.00		None None	None None None None	DNAI2\|0.045144108\|64.18%
	View	20160-01-01_s14-kopie	17	rs9908476 dbSNP Clinvar	72308291	3774.02	C	A	PASS	0/1	431	SYNONYMOUS_CODING	LOW	SILENT	0.03514	0.03514	0.03875				None None	None None None None	DNAI2\|0.045144108\|64.18%
	View	20160-01-01_s14-kopie	17	rs2279122 dbSNP Clinvar	72308219	4896.19	G	A	PASS	0/1	370	SYNONYMOUS_CODING	LOW	SILENT	0.00539	0.00539					None None	None None None None	DNAI2\|0.045144108\|64.18%
DNALI1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	20160-01-01_s14-kopie	1	rs11749 dbSNP Clinvar	38023316	1845.88	C	T	PASS	0/1	205	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.20427	0.20430	0.20283	0.05	0.01		None None	None None None None	DNALI1\|0.256307067\|31.03%
DRC1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	20160-01-01_s14-kopie	2	rs12623642 dbSNP Clinvar	26676395	2931.52	G	T	PASS	0/1	273	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.19389	0.19390	0.05590	0.00	0.88		None None	None None None None	DRC1\|0.021378182\|73.5%
	View	20160-01-01_s14-kopie	2	rs7423300 dbSNP Clinvar	26647277	2554.44	T	G	PASS	0/1	240	SYNONYMOUS_CODING	LOW	SILENT	0.62340	0.62340	0.21429				None None	None None None None	DRC1\|0.021378182\|73.5%
	View	20160-01-01_s14-kopie	2	rs939820 dbSNP Clinvar	26667615	9197.04	T	C	PASS	1/1	348	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.99920	0.99920	0.00200	1.00	0.00		None None	None None None None	DRC1\|0.021378182\|73.5%
	View	20160-01-01_s14-kopie	2	rs1402962 dbSNP Clinvar	26676322	9137.96	A	G	PASS	1/1	334	SYNONYMOUS_CODING	LOW	SILENT	0.99441	0.99440	0.00469				None None	None None None None	DRC1\|0.021378182\|73.5%
DYX1C1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	20160-01-01_s14-kopie	15	rs600753 dbSNP Clinvar	55759193	2327.08	T	C	PASS	1/1	97	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.52836	0.52840	0.45149	0.03	0.02		None None	None None None None	DYX1C1\|0.073770721\|56.56%
EFCAB2
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	20160-01-01_s14-kopie	1	rs10927387 dbSNP Clinvar	245245402	773.96	C	T	PASS	0/1	118	SYNONYMOUS_CODING	LOW	SILENT	0.28934	0.28930	0.34638				None None	None None None None	EFCAB2\|0.09874582\|51.4%
FBXL13
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	20160-01-01_s14-kopie	7	rs7805950 dbSNP Clinvar	102668001	2626.5	A	C	PASS	1/1	90	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.96625	0.96630	0.02968	0.27	0.00		None None	None None None None	FBXL13\|0.013552601\|78.17%
GAS8
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	20160-01-01_s14-kopie	16	rs868045 dbSNP Clinvar	90102835	4440.0	A	G	PASS	0/1	410	SYNONYMOUS_CODING	LOW	SILENT	0.26438	0.26440	0.40405				None None	None None None None	GAS8\|0.279441552\|29.14%
	View	20160-01-01_s14-kopie	16	rs3743825 dbSNP Clinvar	90109711	3921.24	A	G	PASS	0/1	372	SYNONYMOUS_CODING	LOW	SILENT	0.84425	0.84420	0.17082				None None	None None None None	GAS8\|0.279441552\|29.14%
HEATR2
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	20160-01-01_s14-kopie	7	rs4720951 dbSNP Clinvar	810219	4448.88	T	C	PASS	0/1	392	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.39137	0.39140	0.43195	0.02	0.00		None None	None None None None	DNAAF5\|0.006014089\|84.58%
	View	20160-01-01_s14-kopie	7	rs3922641 dbSNP Clinvar	814788	1996.02	G	A	PASS	0/1	225	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.66873	0.66870	0.37306	1.00	0.00		None None	None None None None	DNAAF5\|0.006014089\|84.58%

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Summary

ARMC4

C10orf107

C1orf222

C7orf63

CCDC11

CCDC114

CCDC135

CCDC24

CCDC37

CCDC40

CCDC65

CXorf22

DCDC1

DNAAF1

DNAAF3

DNAH11

DNAH5

DNAH9

DNAI2

DNALI1

DRC1

DYX1C1

EFCAB2

FBXL13

GAS8

HEATR2

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