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

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Genes:
ARMC4, C1orf222, C7orf63, CCDC11, CCDC114, CCDC135, CCDC19, CCDC37, CCDC40, DCDC1, DNAAF1, DNAAF2, DNAAF3, DNAH11, DNAH5, DNAH9, DNAI1, DNAI2, DNAJB13, DNALI1, DRC1, DYX1C1, EFCAB2, FBXL13, FOXJ1, GAS8, HEATR2, HYDIN, IFT74, IQCA1, IQCG, IQGAP3, KATNB1, KIF27, LRGUK, LRRC31, LRRC6, NAT14, NME8, PCDP1, PIH1D1, RP11-156E8.1, RPGR, RSPH1, RSPH4A, RTDR1, RUVBL2, SLC6A9, SPAG1, SPAG17, SPEF2, STK36, TCTE1, TTC40, UTY, WDR16, ZBBX,

+ Genes associated with diseases 24

Genes at Omim

ARMC4, CCDC11, CCDC114, CCDC40, DNAAF1, DNAAF3, DNAH11, DNAH5, DNAH9, DNAI1, DNAI2, DNAJB13, DRC1, GAS8, HYDIN, IFT74, KATNB1, LRRC6, NME8, RPGR, RSPH1, RSPH4A, SLC6A9, 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)
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)
DNAI1	Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400 (3)
DNAI2	Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444 (3)
DNAJB13	Ciliary dyskinesia, primary, 34, 617091 (3)
DRC1	Ciliary dyskinesia, primary, 21, 615294 (3)
GAS8	Ciliary dyskinesia, primary, 33, 616726 (3)
HYDIN	Ciliary dyskinesia, primary, 5, 608647 (3)
IFT74	?Bardet-Biedl syndrome 20, 617119 (3)
KATNB1	Lissencephaly 6, with microcephaly, 616212 (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)
SLC6A9	Glycine encephalopathy with normal serum glycine, 617301 (3)
SPAG1	Ciliary dyskinesia, primary, 28, 615505 (3)

Genes at Clinical Genomics Database

ARMC4, CCDC114, CCDC40, DNAAF1, DNAAF2, DNAH11, DNAH5, DNAI1, DNAI2, DYX1C1, GAS8, KATNB1, LRRC6, NME8, RPGR, RSPH1, RSPH4A,

ARMC4	Ciliary dyskinesia, primary, 23
CCDC114	Ciliary dyskinesia, primary, 20
CCDC40	Ciliary dyskinesia, primary, 15
DNAAF1	Ciliary dyskinesia, primary, 13
DNAAF2	Ciliary dyskinesia, primary, 10
DNAH11	Ciliary dyskinesia, primary, 7
DNAH5	Ciliary dyskinesia, primary, 3, with or without situs inversus
DNAI1	Ciliary dyskinesia, primary, 1
DNAI2	Ciliary dyskinesia, primary, 9
DYX1C1	Ciliary dyskinesia, primary 25
GAS8	Ciliary dyskinesia, primary, 33
KATNB1	Lissencephaly 6, with microcephaly
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

Genes at HGMD

Summary

Number of Variants: 445
Number of Genes: 57

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	20161-01-01_s16-kopie	10	rs7893462 dbSNP Clinvar	28228865	15268.31	A	G	PASS	1/1	568	SYNONYMOUS_CODING	LOW	SILENT	0.53315	0.53310	0.49193				None None	None None None None	ARMC4\|0.02617115\|71.23%
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	20161-01-01_s16-kopie	1	rs141833643 dbSNP Clinvar	1861581	15621.58	C	A	PASS	0/1	1255	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.00499	0.00499		0.02	0.98		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	20161-01-01_s16-kopie	7	rs1029365 dbSNP Clinvar	89912301	11766.94	G	A	PASS	1/1	411	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%
	View	20161-01-01_s16-kopie	7	rs7803620 dbSNP Clinvar	89938588	1887.88	C	G	PASS	1/1	73	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	20161-01-01_s16-kopie	7	rs1134956 dbSNP Clinvar	89938680	2051.48	C	T	PASS	1/1	81	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%
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	20161-01-01_s16-kopie	18	rs35193847 dbSNP Clinvar	47777244	4887.96	C	T	PASS	0/1	460	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	20161-01-01_s16-kopie	19	rs7252988 dbSNP Clinvar	48800338	25469.53	A	G	PASS	1/1	957	SYNONYMOUS_CODING	LOW	SILENT	0.46466	0.46470	0.37744				None None	None None None None	CCDC114\|0.001933114\|91.16%
	View	20161-01-01_s16-kopie	19	rs61747754 dbSNP Clinvar	48800751	5658.41	C	A	PASS	0/1	645	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.10124	0.10120	0.15880	0.28	0.03		None None	None None None None	CCDC114\|0.001933114\|91.16%
	View	20161-01-01_s16-kopie	19	rs35461177 dbSNP Clinvar	48800914	7956.26	G	A	PASS	0/1	689	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.16753	0.16750	0.23235	0.09	0.08		None None	None None None None	CCDC114\|0.001933114\|91.16%
	View	20161-01-01_s16-kopie	19	rs34540645 dbSNP Clinvar	48806015	10718.67	C	T	PASS	0/1	993	SYNONYMOUS_CODING	LOW	SILENT	0.02596	0.02596	0.07412				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	20161-01-01_s16-kopie	16	rs58373934 dbSNP Clinvar	57738810	4873.45	T	A	PASS	0/1	535	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.06669	0.06669	0.11334	0.95	0.01		None None	None None None None	DRC7\|0.042533795\|64.93%
CCDC19
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	20161-01-01_s16-kopie	1	rs16842789 dbSNP Clinvar	159854251	4731.85	T	C	PASS	0/1	502	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.10443	0.10440	0.11295	0.00	0.66		None None	None None None None	CFAP45\|0.081179858\|54.94%
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	20161-01-01_s16-kopie	3	rs4679242 dbSNP Clinvar	126137558	25983.78	C	T	PASS	1/1	977	SYNONYMOUS_CODING	LOW	SILENT	0.24920	0.24920	0.26109				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	20161-01-01_s16-kopie	17	rs7210679 dbSNP Clinvar	78063996	5556.03	A	G	PASS	0/1	801	None	None	None	0.19109	0.19110		0.18	0.00		None None	None None None None	CCDC40\|0.000987297\|95.52%
	View	20161-01-01_s16-kopie	17	rs7210665 dbSNP Clinvar	78063966	6942.48	A	G	PASS	0/1	809	None	None	None	0.16414	0.16410		0.01	0.00		None None	None None None None	CCDC40\|0.000987297\|95.52%
	View	20161-01-01_s16-kopie	17	rs7210664 dbSNP Clinvar	78063964	6934.96	A	G	PASS	0/1	811	None	None	None	0.16394	0.16390					None None	None None None None	CCDC40\|0.000987297\|95.52%
	View	20161-01-01_s16-kopie	17	rs12952612 dbSNP Clinvar	78071052	12036.75	T	C	PASS	1/1	395	SYNONYMOUS_CODING	LOW	SILENT	0.71426	0.71430	0.26281				None None	None None None None	CCDC40\|0.000987297\|95.52%
	View	20161-01-01_s16-kopie	17	rs2304854 dbSNP Clinvar	78073562	9553.41	A	G	PASS	0/1	831	SYNONYMOUS_CODING	LOW	SILENT	0.50160	0.50160	0.49195				None None	None None None None	CCDC40\|0.000987297\|95.52%
	View	20161-01-01_s16-kopie	17	rs7210658 dbSNP Clinvar	78063957	7662.71	A	G	PASS	0/1	829	None	None	None	0.16454	0.16450		0.05	0.00		None None	None None None None	CCDC40\|0.000987297\|95.52%
	View	20161-01-01_s16-kopie	17	rs117203086 dbSNP Clinvar	78059821	9329.04	T	C	PASS	0/1	811	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.00779	0.00779	0.01842	0.02	0.09		None None	None None None None	CCDC40\|0.000987297\|95.52%
	View	20161-01-01_s16-kopie	17	rs4889953 dbSNP Clinvar	78064015	16019.0	G	C	PASS	1/1	736	None	None	None	0.67252	0.67250		0.18	0.00		None None	None None None None	CCDC40\|0.000987297\|95.52%
	View	20161-01-01_s16-kopie	17	rs35578653 dbSNP Clinvar	78055758	12863.6	T	G	PASS	0/1	1078	SYNONYMOUS_CODING	LOW	SILENT	0.46426	0.46430	0.47895				None None	None None None None	CCDC40\|0.000987297\|95.52%
	View	20161-01-01_s16-kopie	17	rs2289527 dbSNP Clinvar	78013724	19074.37	G	C	PASS	1/1	651	SYNONYMOUS_CODING	LOW	SILENT	0.95727	0.95730	0.00622				None None	None None None None	CCDC40\|0.000987297\|95.52%
	View	20161-01-01_s16-kopie	17	rs7207166 dbSNP Clinvar	78064064	11667.11	G	A	PASS	1/1	643	None	None	None	0.75599	0.75600		0.06	0.98		None None	None None None None	CCDC40\|0.000987297\|95.52%
	View	20161-01-01_s16-kopie	17	rs10693712 dbSNP Clinvar	78064145	36596.45	A	ACAC	PASS	1/1	582	None	None	None	0.65475	0.65480					None None	None None None None	CCDC40\|0.000987297\|95.52%
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	20161-01-01_s16-kopie	11	rs2616812 dbSNP Clinvar	31263112	15956.01	A	G	PASS	1/1	573	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	20161-01-01_s16-kopie	11	rs158633 dbSNP Clinvar	30974115	4233.22	C	A	PASS	0/1	441	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	20161-01-01_s16-kopie	11	rs2616815 dbSNP Clinvar	31327316	4918.18	C	T	PASS	0/1	517	SYNONYMOUS_CODING	LOW	SILENT	0.67971	0.67970	0.26381				None None	None None None None	DCDC1\|0.277336592\|29.32%
	View	20161-01-01_s16-kopie	11	rs183555899 dbSNP Clinvar	31123752	2851.81	T	C	PASS	0/1	337	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.00280	0.00280	0.00416	0.03	0.28		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	20161-01-01_s16-kopie	16	rs9972733 dbSNP Clinvar	84203730	6568.77	G	C	PASS	0/1	619	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.11282	0.11280	0.07477	0.23	0.00		None None	None None None None	DNAAF1\|0.000486573\|98.51%
DNAAF2
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	20161-01-01_s16-kopie	14	rs2985686 dbSNP Clinvar	50100683	3335.35	C	G	PASS	1/1	144	SYNONYMOUS_CODING	LOW	SILENT	0.55911	0.55910					None None	None None None None	DNAAF2\|0.034155944\|67.73%
	View	20161-01-01_s16-kopie	14	rs2985687 dbSNP Clinvar	50100386	27052.05	T	C	PASS	1/1	978	SYNONYMOUS_CODING	LOW	SILENT	0.48822	0.48820	0.33364				None None	None None None None	DNAAF2\|0.034155944\|67.73%
	View	20161-01-01_s16-kopie	14	rs2985685 dbSNP Clinvar	50101370	20429.79	G	A	PASS	1/1	794	SYNONYMOUS_CODING	LOW	SILENT	0.49341	0.49340	0.31475				None None	None None None None	DNAAF2\|0.034155944\|67.73%
	View	20161-01-01_s16-kopie	14	rs2985684 dbSNP Clinvar	50101682	18990.06	C	G	PASS	1/1	709	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.49321	0.49320	0.28662	0.07	0.57		None None	None None None None	DNAAF2\|0.034155944\|67.73%
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	20161-01-01_s16-kopie	19	rs890872 dbSNP Clinvar	55671337	18210.79	C	T	PASS	1/1	718	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	1.00000	1.00000		0.69	0.00		None None	None None None None	DNAAF3\|0.005278927\|85.46%
	View	20161-01-01_s16-kopie	19	rs7260320 dbSNP Clinvar	55672784	4885.89	A	G	PASS	0/1	404	SPLICE_SITE_REGION+SYNONYMOUS_CODING	LOW	SILENT	0.22704	0.22700	0.23335				None None	None None None None	DNAAF3\|0.005278927\|85.46%
	View	20161-01-01_s16-kopie	19	rs58824375 dbSNP Clinvar	55673145	8826.81	C	T	PASS	0/1	866	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.12879	0.12880	0.02774	0.31	0.20		None None	None None None None	DNAAF3\|0.005278927\|85.46%
	View	20161-01-01_s16-kopie	19	rs56726774 dbSNP Clinvar	55673164	9043.33	T	C	PASS	0/1	866	SYNONYMOUS_CODING	LOW	SILENT	0.13159	0.13160	0.03226				None None	None None None None	DNAAF3\|0.005278927\|85.46%
	View	20161-01-01_s16-kopie	19	rs3848618 dbSNP Clinvar	55673654	4889.88	T	C	PASS	0/1	538	SYNONYMOUS_CODING	LOW	SILENT	0.12840	0.12840	0.02496				None None	None None None None	DNAAF3\|0.005278927\|85.46%
	View	20161-01-01_s16-kopie	19	rs891187 dbSNP Clinvar	55671374	4531.01	C	T	PASS	0/1	551	SYNONYMOUS_CODING	LOW	SILENT	0.33187	0.33190	0.29126				None None	None None None None	DNAAF3\|0.005278927\|85.46%
	View	20161-01-01_s16-kopie	19	rs890871 dbSNP Clinvar	55672055	10230.71	A	G	PASS	0/1	907	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.11721	0.11720	0.02707	0.62	0.00		None None	None None None None	DNAAF3\|0.005278927\|85.46%
	View	20161-01-01_s16-kopie	19	rs2365725 dbSNP Clinvar	55672470	6953.12	T	C	PASS	0/1	742	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.22764	0.22760	0.20211	0.01	0.23		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	20161-01-01_s16-kopie	7	rs9639393 dbSNP Clinvar	21779278	8893.2	A	G	PASS	1/1	313	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	20161-01-01_s16-kopie	7	rs2214326 dbSNP Clinvar	21856151	9547.36	G	A	PASS	0/1	740	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	20161-01-01_s16-kopie	7	rs4722064 dbSNP Clinvar	21893993	4894.14	G	T	PASS	1/1	185	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.45947	0.45950	0.40101	0.02	0.28		None None	None None None None	DNAH11\|0.38215847\|21.9%
	View	20161-01-01_s16-kopie	7	rs4722067 dbSNP Clinvar	21901566	18321.0	T	C	PASS	1/1	659	SYNONYMOUS_CODING	LOW	SILENT	0.63439	0.63440	0.24229				None None	None None None None	DNAH11\|0.38215847\|21.9%
	View	20161-01-01_s16-kopie	7	rs6461613 dbSNP Clinvar	21924014	6382.6	A	G	PASS	1/1	232	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	20161-01-01_s16-kopie	7	rs10269582 dbSNP Clinvar	21640361	15697.05	T	C	PASS	1/1	579	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	20161-01-01_s16-kopie	7	rs56333627 dbSNP Clinvar	21939032	7360.51	C	A	PASS	1/1	262	SYNONYMOUS_CODING	LOW	SILENT	0.19349	0.19350	0.25408				None None	None None None None	DNAH11\|0.38215847\|21.9%
	View	20161-01-01_s16-kopie	7	rs10224537 dbSNP Clinvar	21640405	18248.62	A	G	PASS	1/1	633	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	20161-01-01_s16-kopie	7	rs72657303 dbSNP Clinvar	21640338	5715.74	G	T	PASS	0/1	554	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.00020	0.00020	0.00399	0.18	0.91		None None	None None None None	DNAH11\|0.38215847\|21.9%
	View	20161-01-01_s16-kopie	7	rs3827657 dbSNP Clinvar	21641218	16087.77	G	A	PASS	1/1	608	SYNONYMOUS_CODING	LOW	SILENT	0.75379	0.75380	0.19933				None None	None None None None	DNAH11\|0.38215847\|21.9%
	View	20161-01-01_s16-kopie	7	rs6963535 dbSNP Clinvar	21628237	5008.75	C	T	PASS	1/1	187	SYNONYMOUS_CODING	LOW	SILENT	0.99062	0.99060	0.00987				None None	None None None None	DNAH11\|0.38215847\|21.9%
	View	20161-01-01_s16-kopie	7	rs12536928 dbSNP Clinvar	21765452	12573.71	C	T	PASS	1/1	458	SYNONYMOUS_CODING	LOW	SILENT	0.36282	0.36280	0.43883				None None	None None None None	DNAH11\|0.38215847\|21.9%
	View	20161-01-01_s16-kopie	7	rs2072221 dbSNP Clinvar	21775443	5975.17	G	A	PASS	0/1	576	SYNONYMOUS_CODING	LOW	SILENT	0.01118	0.75540	0.14250				None None	None None None None	DNAH11\|0.38215847\|21.9%
	View	20161-01-01_s16-kopie	7	rs1109806 dbSNP Clinvar	21778449	5671.99	C	T	PASS	1/1	201	SYNONYMOUS_CODING	LOW	SILENT	0.53954	0.53950	0.33524				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	20161-01-01_s16-kopie	5	rs4701997 dbSNP Clinvar	13894894	5489.18	T	A	PASS	0/1	550	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.48782	0.48780	0.48355	0.10	0.03		None None	None None None None	DNAH5\|0.235040337\|32.91%
	View	20161-01-01_s16-kopie	5	rs113425437 dbSNP Clinvar	13701422	3027.9	G	T	PASS	0/1	279	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.04133	0.04133	0.04513	0.00	0.98		None None	None None None None	DNAH5\|0.235040337\|32.91%
	View	20161-01-01_s16-kopie	5	rs3734111 dbSNP Clinvar	13701525	1790.57	T	C	PASS	0/1	227	SYNONYMOUS_CODING	LOW	SILENT	0.44768	0.44770	0.48601				None None	None None None None	DNAH5\|0.235040337\|32.91%
	View	20161-01-01_s16-kopie	5	rs3734110 dbSNP Clinvar	13701536	1584.37	T	C	PASS	0/1	186	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	20161-01-01_s16-kopie	5	rs30169 dbSNP Clinvar	13719022	7540.9	T	G	PASS	0/1	734	SYNONYMOUS_CODING	LOW	SILENT	0.41913	0.41910	0.41227				None None	None None None None	DNAH5\|0.235040337\|32.91%
	View	20161-01-01_s16-kopie	5	rs30168 dbSNP Clinvar	13719089	19711.96	G	A	PASS	1/1	739	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	20161-01-01_s16-kopie	5	rs6554812 dbSNP Clinvar	13762972	4564.23	T	C	PASS	0/1	485	SYNONYMOUS_CODING	LOW	SILENT	0.31030	0.31030	0.29779				None None	None None None None	DNAH5\|0.235040337\|32.91%
	View	20161-01-01_s16-kopie	5	rs10078391 dbSNP Clinvar	13811775	4499.38	T	C	PASS	0/1	472	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	20161-01-01_s16-kopie	5	rs1348689 dbSNP Clinvar	13829799	5586.26	G	A	PASS	0/1	506	SYNONYMOUS_CODING	LOW	SILENT	0.44329	0.44330	0.39566				None None	None None None None	DNAH5\|0.235040337\|32.91%
	View	20161-01-01_s16-kopie	5	rs10041113 dbSNP Clinvar	13845045	5733.29	G	A	PASS	0/1	557	SYNONYMOUS_CODING	LOW	SILENT	0.45467	0.45470	0.39935				None None	None None None None	DNAH5\|0.235040337\|32.91%
	View	20161-01-01_s16-kopie	5	rs6554827 dbSNP Clinvar	13864728	4777.7	C	A	PASS	0/1	499	SYNONYMOUS_CODING	LOW	SILENT			0.39928				None None	None None None None	DNAH5\|0.235040337\|32.91%
	View	20161-01-01_s16-kopie	5	rs7703349 dbSNP Clinvar	13865980	4758.02	T	C	PASS	0/1	416	SYNONYMOUS_CODING	LOW	SILENT	0.46865	0.46870	0.49831				None None	None None None None	DNAH5\|0.235040337\|32.91%
	View	20161-01-01_s16-kopie	5	rs10057007 dbSNP Clinvar	13882841	1612.03	A	G	PASS	0/1	238	SYNONYMOUS_CODING	LOW	SILENT	0.25060	0.25060	0.26988				None None	None None None None	DNAH5\|0.235040337\|32.91%
	View	20161-01-01_s16-kopie	5	rs1445823 dbSNP Clinvar	13900345	5602.4	A	G	PASS	0/1	539	SYNONYMOUS_CODING	LOW	SILENT	0.60124	0.60120	0.47786				None None	None None None None	DNAH5\|0.235040337\|32.91%
	View	20161-01-01_s16-kopie	5	rs1530496 dbSNP Clinvar	13931340	5947.07	C	T	PASS	0/1	546	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.50060	0.50060	0.39051	1.00	0.00		None None	None None None None	DNAH5\|0.235040337\|32.91%
	View	20161-01-01_s16-kopie	5	rs339445 dbSNP Clinvar	13944512	12564.43	A	C	PASS	1/1	454	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%
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	20161-01-01_s16-kopie	17	rs8070256 dbSNP Clinvar	11786951	15750.37	T	C	PASS	1/1	575	SYNONYMOUS_CODING	LOW	SILENT	0.38598	0.38600	0.40604				None None	None None None None	DNAH9\|0.176098085\|39.51%
	View	20161-01-01_s16-kopie	17	rs9892256 dbSNP Clinvar	11523082	16492.37	A	G	PASS	1/1	601	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	20161-01-01_s16-kopie	17	rs3744578 dbSNP Clinvar	11648332	23721.84	C	T	PASS	1/1	861	SYNONYMOUS_CODING	LOW	SILENT	0.77017	0.77020	0.26411				None None	None None None None	DNAH9\|0.176098085\|39.51%
	View	20161-01-01_s16-kopie	17	rs61744697 dbSNP Clinvar	11672607	8812.41	G	T	PASS	0/1	886	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.07049	0.07049	0.10741	0.00	0.87		None None	None None None None	DNAH9\|0.176098085\|39.51%
	View	20161-01-01_s16-kopie	17	rs8071438 dbSNP Clinvar	11583089	20612.5	T	C	PASS	1/1	748	SYNONYMOUS_CODING	LOW	SILENT	0.94788	0.94790	0.03168				None None	None None None None	DNAH9\|0.176098085\|39.51%
	View	20161-01-01_s16-kopie	17	rs12449553 dbSNP Clinvar	11757556	11200.42	C	G	PASS	0/1	928	SYNONYMOUS_CODING	LOW	SILENT	0.00200	0.40360	0.39605				None None	None None None None	DNAH9\|0.176098085\|39.51%
	View	20161-01-01_s16-kopie	17	rs61743635 dbSNP Clinvar	11650958	10333.75	G	A	PASS	0/1	921	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	20161-01-01_s16-kopie	17	rs11078022 dbSNP Clinvar	11511457	4253.74	C	T	PASS	0/1	292	SYNONYMOUS_CODING	LOW	SILENT	0.44329	0.44330	0.34599				None None	None None None None	DNAH9\|0.176098085\|39.51%
	View	20161-01-01_s16-kopie	17	rs761162770 dbSNP Clinvar	11827222	5790.27	C	G	PASS	0/1	612	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				1.00	0.04		None None	None None None None	DNAH9\|0.176098085\|39.51%
DNAI1
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	20161-01-01_s16-kopie	9	rs11793196 dbSNP Clinvar	34500821	7238.96	G	A	PASS	0/1	708	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.17652	0.17650	0.20975	0.03	0.06		None None	None None None None	DNAI1\|0.605349786\|11.63%
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	20161-01-01_s16-kopie	17	rs28725418 dbSNP Clinvar	72306291	7926.92	G	A	PASS	0/1	683	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	20161-01-01_s16-kopie	17	rs1979370 dbSNP Clinvar	72308319	11067.29	G	A	PASS	0/1	894	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	20161-01-01_s16-kopie	17	rs34159194 dbSNP Clinvar	72295966	8007.95	C	T	PASS	0/1	764	SYNONYMOUS_CODING	LOW	SILENT	0.07388	0.07388	0.13971				None None	None None None None	DNAI2\|0.045144108\|64.18%
DNAJB13
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	20161-01-01_s16-kopie	11	rs147921001 dbSNP Clinvar	73679454	5137.65	G	A	PASS	0/1	563	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.00060	0.00060	0.00377	0.03	0.08		None None	None None None None	DNAJB13\|0.167244914\|40.62%
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	20161-01-01_s16-kopie	1	rs11749 dbSNP Clinvar	38023316	3934.56	C	T	PASS	0/1	453	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	20161-01-01_s16-kopie	2	rs35313480 dbSNP Clinvar	26679362	11757.86	G	A	PASS	1/1	412	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.02177	0.02177	0.04544	0.10	0.04		None None	None None None None	DRC1\|0.021378182\|73.5%
	View	20161-01-01_s16-kopie	2	rs1402962 dbSNP Clinvar	26676322	22975.38	A	G	PASS	1/1	802	SYNONYMOUS_CODING	LOW	SILENT	0.99441	0.99440	0.00469				None None	None None None None	DRC1\|0.021378182\|73.5%
	View	20161-01-01_s16-kopie	2	rs7423300 dbSNP Clinvar	26647277	13517.52	T	G	PASS	1/1	473	SYNONYMOUS_CODING	LOW	SILENT	0.62340	0.62340	0.21429				None None	None None None None	DRC1\|0.021378182\|73.5%
	View	20161-01-01_s16-kopie	2	rs939820 dbSNP Clinvar	26667615	18814.7	T	C	PASS	1/1	703	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%
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	20161-01-01_s16-kopie	15	rs600753 dbSNP Clinvar	55759193	6636.32	T	C	PASS	1/1	271	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	20161-01-01_s16-kopie	1	rs10927387 dbSNP Clinvar	245245402	5275.39	C	T	PASS	1/1	189	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	20161-01-01_s16-kopie	7	rs10279449 dbSNP Clinvar	102462636	2301.55	T	C	PASS	0/1	253	SYNONYMOUS_CODING	LOW	SILENT	0.52336	0.52340	0.46617				None None	None None None None	FBXL13\|0.013552601\|78.17%
	View	20161-01-01_s16-kopie	7	rs7805950 dbSNP Clinvar	102668001	6609.27	A	C	PASS	1/1	228	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%
	View	20161-01-01_s16-kopie	7	rs17135923 dbSNP Clinvar	102553603	6527.7	C	G	PASS	0/1	611	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.10224	0.10220	0.06520	0.00	0.99		None None	None None None None	FBXL13\|0.013552601\|78.17%,LRRC17\|0.102449665\|50.7%
FOXJ1
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	20161-01-01_s16-kopie	17	rs894542 dbSNP Clinvar	74133974	7135.46	C	T	PASS	0/1	600	SYNONYMOUS_CODING	LOW	SILENT	0.07688	0.07688	0.06996				None None	None None None None	FOXJ1\|0.610959543\|11.44%
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	20161-01-01_s16-kopie	16	rs868045 dbSNP Clinvar	90102835	10144.49	A	G	PASS	0/1	829	SYNONYMOUS_CODING	LOW	SILENT	0.26438	0.26440	0.40405				None None	None None None None	GAS8\|0.279441552\|29.14%
	View	20161-01-01_s16-kopie	16	rs3743825 dbSNP Clinvar	90109711	9261.49	A	G	PASS	0/1	798	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	20161-01-01_s16-kopie	7	rs4720951 dbSNP Clinvar	810219	22159.25	T	C	PASS	1/1	789	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%

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Summary

ARMC4

C1orf222

C7orf63

CCDC11

CCDC114

CCDC135

CCDC19

CCDC37

CCDC40

DCDC1

DNAAF1

DNAAF2

DNAAF3

DNAH11

DNAH5

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DNAI1

DNAI2

DNAJB13

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