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

DBSNP BUILD: EXCLUDE VARIANTS AT VARISNP	READ DEPTH: QUAL:	VARIANTS PER GENE:
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

FREQUENCIES

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
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+ Genes 18

Genes:
ANGPT2, ASCC2, DCAF8L2, DFNB59, DUX4, DUX4L4, DUX4L5, FADS6, FCGR3A, FMNL2, HLA-A, HMGA1, IVL, NPSR1, PKD1L2, RPL14, TAS2R43, TTLL8,

+ Genes associated with diseases 4

Genes at Omim

FCGR3A, HLA-A, HMGA1, NPSR1,

FCGR3A	Immunodeficiency 20, 615707 (3)
HLA-A	{Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579 (3)
HMGA1	{Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3)
NPSR1	{Asthma, susceptibility to, 2}, 608584 (3)

Genes at Clinical Genomics Database

DFNB59, DUX4, FCGR3A, HLA-A,

DFNB59	Deafness, autosomal recessive 59
DUX4	Facioscapulohumeral muscular dystrophy, type 2
FCGR3A	Immunodeficiency 20
HLA-A	Drug-induced toxicity, susceptibility to

Genes at HGMD

Summary

Number of Variants: 497
Number of Genes: 18

Export to: CSV

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ANGPT2
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	combined sample_74.variant35	8	rs6559167 dbSNP Clinvar	6389889	4149.6	C	G,A	PASS	2/2	151	SYNONYMOUS_CODING	LOW	None	0.28974	0.28970	0.42734				None None	None None None None	MCPH1\|0.001260573\|94.1%,ANGPT2\|0.704905052\|8.36%
ASCC2
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	combined sample_74.variant35	22	rs10559800,rs146848976 dbSNP Clinvar	30234192	2254.17	TGCC	T,...	PASS	2/2	92	None	None	None							None None	None None None None	ASCC2\|0.130819121\|45.77%
DCAF8L2
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	combined sample_74.variant35	X	rs751414438 dbSNP Clinvar	27765399	807.82	AG...	AG...	PASS	2/2	24	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None							None None	None None None None	DCAF8L2\|0.000974393\|95.61%
DFNB59
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	combined sample_74.variant35	2	rs17304212 dbSNP Clinvar	179325735	2224.3	C	T,G	PASS	2/2	158	NON_SYNONYMOUS_CODING	MODERATE	None	0.02875	0.03934	0.06307	0.00	0.83		None None	None None None None	DFNB59\|0.632504967\|10.69%
DUX4
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	combined sample_74.variant35	4	.	191006174	52.74	C	T,A	PASS	2/2	2	NON_SYNONYMOUS_CODING	MODERATE	None				0.00	0.89		None None	None None None None	DUX4\|0.003437218\|87.88%
DUX4L4
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	combined sample_74.variant35	4	.	191003144	349.68	C	A,T	PASS	2/2	4	NON_SYNONYMOUS_CODING	MODERATE	None				0.22	0.12		None None	None None None None	DUX4L4\|0.001517207\|92.7%
DUX4L5
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	combined sample_74.variant35	4	.	190999199	61.77	G	C,A	PASS	2/2	2	NON_SYNONYMOUS_CODING	MODERATE	None				0.08	0.81		None None	None None None None	DUX4L5\|0.001502836\|92.77%
	View	combined sample_74.variant35	4	.	190999201	52.74	C	G,A	PASS	2/2	2	NON_SYNONYMOUS_CODING	MODERATE	None				0.03	0.38		None None	None None None None	DUX4L5\|0.001502836\|92.77%
FADS6
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	combined sample_74.variant35	17	.	72889676	7535.18	G	GG...	PASS	2/2	210	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None							None None	None None None None	FADS6\|0.029483585\|69.62%
FCGR3A
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	combined sample_74.variant35	1	rs10127939 dbSNP Clinvar	161518333	3579.06	A	T,C	PASS	2/2	370	NON_SYNONYMOUS_CODING	MODERATE	None	0.02656	0.03894	0.05521	0.41	0.41		None None	None None None None	FCGR3A\|0.001574377\|92.43%
FMNL2
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	combined sample_74.variant35	2	rs5835439 dbSNP Clinvar	153476066	826.25	G	C,...	PASS	2/2	24	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.99800	0.99800					None None	None None None None	FMNL2\|0.571016453\|12.93%
HLA-A
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	combined sample_74.variant35	6	rs9256983 dbSNP Clinvar	29911228	9074.82	A	C,T,G	PASS	2/2	403	NON_SYNONYMOUS_CODING	MODERATE	None	0.05571	0.18950		0.65	0.00		None None	None None None None	HLA-A\|0.043055872\|64.8%
	View	combined sample_74.variant35	6	rs1071742 dbSNP Clinvar	29910759	1709.82	T	C,A	PASS	2/2	178	NON_SYNONYMOUS_CODING	MODERATE	None	0.15455	0.22180	0.22708	0.17	0.00		None None	None None None None	HLA-A\|0.043055872\|64.8%
HMGA1
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	combined sample_74.variant35	6	rs2780219 dbSNP Clinvar	34212743	1874.47	A	C,G	PASS	2/2	77	NON_SYNONYMOUS_CODING	MODERATE	None	0.00240	0.00240		0.07	0.00		None None	None None None None	HMGA1\|0.240174971\|32.42%
IVL
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	combined sample_74.variant35	1	rs7520711,rs758373475 dbSNP Clinvar	152882982	773.67	C	G,...	PASS	2/2	25	NON_SYNONYMOUS_CODING	MODERATE	None	0.42432	0.42430					None None	None None None None	IVL\|0.002902811\|88.82%
NPSR1
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	combined sample_74.variant35	7	rs7809642 dbSNP Clinvar	34917740	245.43	C	T,A	PASS	2/2	87	None	None	None	0.04153	0.04153	0.20460				None None	None None None None	NPSR1\|0.153358604\|42.47%
PKD1L2
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	combined sample_74.variant35	16	rs1453325 dbSNP Clinvar	81190601	3449.81	T	A,C	PASS	2/2	168	NON_SYNONYMOUS_CODING	MODERATE	None	0.00998	0.00998	0.02316	0.00	0.89		None None	None None None None	PKD1L2\|0.005531409\|85.17%
RPL14
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	combined sample_74.variant35	3	.	40503520	1210.71	ACTG	AC...	PASS	2/2	113	CODON_INSERTION	MODERATE	None							None None	None None None None	RPL14\|0.064797243\|58.69%
TAS2R43
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	combined sample_74.variant35	12	rs765322779 dbSNP Clinvar	11244070	2456.33	TCC	CCC,T	PASS	2/2	9	FRAME_SHIFT	HIGH	None			0.09244				None None	None None None None	PRR4\|0.000493683\|98.46%,TAS2R14\|0.00022192\|99.72%,TAS2R43\|0.000835456\|96.47%
TTLL8
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	combined sample_74.variant35	22	rs738333 dbSNP Clinvar	50468907	2013.9	C	G,T	PASS	2/2	87	NON_SYNONYMOUS_CODING	MODERATE	None	0.32668	0.32670	0.41811	0.13	0.00		None None	None None None None	TTLL8\|0.003305511\|88.08%
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	combined sample_74.variant35	1	.	226046648	322.97	AT...	AT...	PASS	2/2	4	None	None	None							None None	None None None None	TMEM63A\|0.052876401\|61.8%
	View	combined sample_74.variant35	1	.	226414375	142.87	CA...	CA...	PASS	2/2	8	None	None	None							None None	None None None None	MIXL1\|0.062378551\|59.22%
	View	combined sample_74.variant35	1	rs11378196,rs28445628,rs397817981 dbSNP Clinvar	226553494	1070.14	C	A,CA	PASS	2/2	31	None	None	None	0.78375	0.78370					None None	None None None None	PARP1\|0.909670584\|3.25%
	View	combined sample_74.variant35	2	rs367772503,rs72362297,rs56047670 dbSNP Clinvar	20729143	143.47	C	CT...	PASS	2/2	11	None	None	None	0.68091	0.68090					None None	None None None None	None
	View	combined sample_74.variant35	2	rs71395164 dbSNP Clinvar	24150503	96.2	A	AG...	PASS	2/2	13	None	None	None							None None	None None None None	UBXN2A\|0.058572435\|60.24%
	View	combined sample_74.variant35	2	.	24338777	98.98	CAAAA	CA...	PASS	2/2	11	None	None	None							None None	None None None None	FAM228B\|0.030483261\|69.18%,PFN4\|0.10756419\|49.69%
	View	combined sample_74.variant35	2	.	48742355	303.54	TTCTC	TT...	PASS	2/2	4	None	None	None							None None	None None None None	PPP1R21\|0.194452097\|37.35%
	View	combined sample_74.variant35	2	rs72187525,rs537053086 dbSNP Clinvar	48847918	37.81	GAATA	G,...	PASS	2/2	2	None	None	None							None None	None None None None	STON1-GTF2A1L\|0.070736992\|57.3%,GTF2A1L\|0.059574991\|60%
	View	combined sample_74.variant35	2	rs562129029 dbSNP Clinvar	79348129	1813.01	GAA	G,GA	PASS	2/2	79	None	None	None		0.18130					None None	None None None None	REG1A\|0.001868438\|91.34%
	View	combined sample_74.variant35	2	rs764471954 dbSNP Clinvar	84676886	235.32	TA...	TA...	PASS	2/2	11	None	None	None							None None	None None None None	SUCLG1\|0.837544049\|4.91%
	View	combined sample_74.variant35	2	rs79198208,rs10194887,rs59832078,rs59476187 dbSNP Clinvar	86368042	511.6	A	C,...	PASS	2/2	8	None	None	None							None None	None None None None	PTCD3\|0.046279817\|63.82%
	View	combined sample_74.variant35	2	rs759005217 dbSNP Clinvar	206662873	102.45	GTTT	GT...	PASS	2/2	3	None	None	None							None None	None None None None	None
	View	combined sample_74.variant35	2	rs111584120 dbSNP Clinvar	233429144	193.7	GT...	G,...	PASS	2/2	5	None	None	None	0.01118	0.32610					None None	None None None None	EIF4E2\|0.568481199\|13.08%
	View	combined sample_74.variant35	2	rs11320829 dbSNP Clinvar	242433012	383.56	GT	G,GTT	PASS	2/2	25	None	None	None	0.33766						None None	None None None None	FARP2\|0.012536772\|78.88%,STK25\|0.16928868\|40.39%
	View	combined sample_74.variant35	3	rs11389765,rs869076876,rs397796011 dbSNP Clinvar	3137155	1289.02	A	AT...	PASS	2/2	87	None	None	None	0.05012	0.67910					None None	None None None None	IL5RA\|0.003804288\|87.3%
	View	combined sample_74.variant35	3	rs3214846,rs397762652 dbSNP Clinvar	3147308	1660.96	TC	TCC,T	PASS	2/2	284	None	None	None							None None	None None None None	IL5RA\|0.003804288\|87.3%
	View	combined sample_74.variant35	3	rs56412101,rs771354922,rs398062255 dbSNP Clinvar	38397741	86.54	CAAA	CA...	PASS	2/2	12	None	None	None							None None	None None None None	XYLB\|0.051125156\|62.31%
	View	combined sample_74.variant35	3	rs36119926,rs11438791,rs397816638 dbSNP Clinvar	108754320	183.28	T	TA...	PASS	2/2	22	None	None	None							None None	None None None None	MORC1\|0.030363469\|69.23%
	View	combined sample_74.variant35	3	.	109049147	97.73	CA...	CA...	PASS	2/2	9	None	None	None							None None	None None None None	DPPA4\|0.001219572\|94.35%
	View	combined sample_74.variant35	3	rs772265709 dbSNP Clinvar	109049180	102.63	GAA	G,GA	PASS	2/2	16	None	None	None							None None	None None None None	DPPA4\|0.001219572\|94.35%
	View	combined sample_74.variant35	3	rs150902974,rs60295420 dbSNP Clinvar	111705275	370.87	G	GT...	PASS	2/2	60	None	None	None	0.16653	0.16650					None None	None None None None	ABHD10\|0.050813787\|62.43%
	View	combined sample_74.variant35	3	rs144735433,rs386356241 dbSNP Clinvar	114619353	142.65	A	AA...	PASS	2/2	5	None	None	None							None None	None None None None	ZBTB20\|0.999874095\|0.19%
	View	combined sample_74.variant35	3	.	116163653	491.86	AC...	A,...	PASS	2/2	59	None	None	None							None None	None None None None	LSAMP\|0.999921905\|0.17%
	View	combined sample_74.variant35	3	.	116163655	345.88	AC...	AA...	PASS	2/2	59	None	None	None							None None	None None None None	LSAMP\|0.999921905\|0.17%
	View	combined sample_74.variant35	3	rs201120646,rs763342139 dbSNP Clinvar	116746457	2050.69	GTTA	GT...	PASS	2/2	51	None	None	None	0.00240	0.35840					None None	None None None None	LSAMP\|0.999921905\|0.17%
	View	combined sample_74.variant35	3	rs879011163 dbSNP Clinvar	176737773	1222.76	TA	T,TAA	PASS	2/2	38	None	None	None							None None	None None None None	TBL1XR1\|0.758627264\|6.88%
	View	combined sample_74.variant35	3	rs777856033 dbSNP Clinvar	179183588	796.31	TT...	T,...	PASS	2/2	23	None	None	None							None None	None None None None	None
	View	combined sample_74.variant35	4	rs546709908,rs752755165,rs531853401 dbSNP Clinvar	39321969	326.28	CAAA	C,CA	PASS	2/2	7	None	None	None	0.93231	0.93230					None None	None None None None	RFC1\|0.459631964\|17.7%
	View	combined sample_74.variant35	4	rs869114293 dbSNP Clinvar	44709576	4204.92	GAA	G,GA	PASS	2/2	116	None	None	None							None None	None None None None	GNPDA2\|0.439714436\|18.67%
	View	combined sample_74.variant35	4	rs71673486 dbSNP Clinvar	72620865	122.67	C	CT...	PASS	2/2	6	None	None	None	0.26238	0.26240					None None	None None None None	GC\|0.070899488\|57.25%
	View	combined sample_74.variant35	4	.	73933671	2613.21	AT...	AT...	PASS	2/2	62	None	None	None							None None	None None None None	COX18\|0.044414214\|64.37%
	View	combined sample_74.variant35	4	rs763859653,rs879122011,rs34769754 dbSNP Clinvar	140005592	497.91	G	GG...	PASS	2/2	42	None	None	None							None None	None None None None	ELF2\|0.254346865\|31.17%
	View	combined sample_74.variant35	4	.	144257901	379.25	TT...	TT...	PASS	2/2	17	None	None	None							None None	None None None None	None
	View	combined sample_74.variant35	4	.	190943098	61.77	G	C,A	PASS	2/2	2	None	None	None							None None	None None None None	None
	View	combined sample_74.variant35	4	rs377245586 dbSNP Clinvar	191003598	61.77	G	A,T	PASS	2/2	2	None	None	None							None None	None None None None	DUX4L4\|0.001517207\|92.7%
	View	combined sample_74.variant35	5	rs771183930 dbSNP Clinvar	114938279	53.57	CT...	CT...	PASS	2/2	17	None	None	None							None None	None None None None	TMED7-TICAM2\|0.2791835\|29.17%,TICAM2\|0.025604369\|71.5%
	View	combined sample_74.variant35	5	.	126250459	1683.39	AAC	AA...	PASS	2/2	47	None	None	None							None None	None None None None	MARCH3\|0.588762581\|12.17%
	View	combined sample_74.variant35	5	rs776314286 dbSNP Clinvar	149294595	546.05	CTTTT	CT...	PASS	2/2	22	None	None	None							None None	None None None None	PDE6A\|0.398096612\|20.89%
	View	combined sample_74.variant35	5	.	149599433	43.61	TT...	TT...	PASS	2/2	6	None	None	None							None None	None None None None	SLC6A7\|0.94569969\|2.35%,CAMK2A\|0.795225096\|5.97%
	View	combined sample_74.variant35	5	rs113058662,rs75207581,rs148205889 dbSNP Clinvar	150040513	2173.52	A	G,...	PASS	2/2	56	None	None	None	0.04333	0.89820					None None	None None None None	MYOZ3\|0.015268944\|76.97%
	View	combined sample_74.variant35	5	rs201622910 dbSNP Clinvar	171638351	338.83	CC...	CC...	PASS	2/2	6	None	None	None							None None	None None None None	UBTD2\|0.197142151\|37.03%
	View	combined sample_74.variant35	5	rs201825932,rs36095984 dbSNP Clinvar	173388720	8585.54	ATT	A,AT	PASS	2/2	229	None	None	None	0.18670	0.18670					None None	None None None None	CPEB4\|0.605253311\|11.63%
	View	combined sample_74.variant35	5	rs573947726 dbSNP Clinvar	175802079	61.23	TCATC	TC...	PASS	2/2	4	None	None	None	0.09285	0.10620					None None	None None None None	ARL10\|0.060845523\|59.64%
	View	combined sample_74.variant35	6	rs9269775 dbSNP Clinvar	32548804	216.75	C	T,G	PASS	2/2	26	None	None	None							None None	None None None None	HLA-DRB1\|0.032266025\|68.49%
	View	combined sample_74.variant35	6	rs111351256 dbSNP Clinvar	38939248	66.69	AT	AT...	PASS	2/2	14	None	None	None							None None	None None None None	DNAH8\|0.998961058\|0.42%
	View	combined sample_74.variant35	6	rs754014595 dbSNP Clinvar	75796364	33.48	GTATA	GTA,G	PASS	2/2	6	None	None	None							None None	None None None None	COL12A1\|0.494206072\|16.13%
	View	combined sample_74.variant35	6	rs112822816,rs386407760,rs386407761,rs34581323 dbSNP Clinvar	83921245	6687.03	C	CT...	PASS	2/2	213	None	None	None	0.19129	0.72000					None None	None None None None	ME1\|0.247553435\|31.77%
	View	combined sample_74.variant35	7	.	2409400	93.73	AT...	AT...	PASS	2/2	4	None	None	None							None None	None None None None	EIF3B\|0.173808173\|39.81%
	View	combined sample_74.variant35	7	.	55565247	2359.98	TG...	T,...	PASS	2/2	62	None	None	None							None None	None None None None	VOPP1\|0.061853135\|59.37%
	View	combined sample_74.variant35	7	rs60945087,rs534387325 dbSNP Clinvar	57530423	323.92	TAAA	TA...	PASS	2/2	24	None	None	None							None None	None None None None	ZNF716\|0.003678261\|87.46%
	View	combined sample_74.variant35	7	rs759064578 dbSNP Clinvar	99636938	326.29	GA...	G,...	PASS	2/2	8	None	None	None							None None	None None None None	ZKSCAN1\|0.096037093\|51.93%
	View	combined sample_74.variant35	7	rs750839036,rs576421816 dbSNP Clinvar	137782593	519.73	CTTT	CT...	PASS	2/2	23	None	None	None		0.01637					None None	None None None None	AKR1D1\|0.024543547\|72.01%
	View	combined sample_74.variant35	7	rs750200734 dbSNP Clinvar	155295804	2608.74	GAA	G,GA	PASS	2/2	101	None	None	None							None None	None None None None	CNPY1\|0.046759712\|63.67%
	View	combined sample_74.variant35	8	rs556279821,rs33960237,rs879647530 dbSNP Clinvar	11534353	277.61	C	CA...	PASS	2/2	11	None	None	None	0.21685	0.21690					None None	None None None None	None
	View	combined sample_74.variant35	8	rs5890367,rs3050365 dbSNP Clinvar	27204731	312.32	T	TA...	PASS	2/2	6	None	None	None	0.63858	0.63860					None None	None None None None	PTK2B\|0.424632627\|19.37%
	View	combined sample_74.variant35	8	rs112601241,rs386413089,rs386413090,rs5892452 dbSNP Clinvar	75262440	92.67	T	TA...	PASS	2/2	6	None	None	None							None None	None None None None	GDAP1\|0.422399807\|19.49%
	View	combined sample_74.variant35	8	rs61003427,rs544609405,rs796378683 dbSNP Clinvar	76468309	84.71	GTT	GT,G	PASS	2/2	26	None	None	None		0.60980					None None	None None None None	HNF4G\|0.305567429\|27.17%
	View	combined sample_74.variant35	9	.	75369987	119.61	GG...	GG...	PASS	2/2	6	None	None	None							None None	None None None None	TMC1\|0.464230248\|17.43%
	View	combined sample_74.variant35	9	rs201787072 dbSNP Clinvar	77415535	65.16	TAA	TA,T	PASS	2/2	5	None	None	None	0.19629	0.19630					None None	None None None None	TRPM6\|0.228011373\|33.52%
	View	combined sample_74.variant35	9	rs142099428,rs869034772,rs869033731 dbSNP Clinvar	85677254	2467.41	AGG	A,AG	PASS	2/2	100	None	None	None	0.29732	0.53430					None None	None None None None	RASEF\|0.039321415\|66%
	View	combined sample_74.variant35	9	rs766536085 dbSNP Clinvar	107556793	842.85	TA	TA...	PASS	2/2	20	None	None	None							None None	None None None None	ABCA1\|0.668333708\|9.43%
	View	combined sample_74.variant35	9	.	111882433	79.67	AGGG	AGG,A	PASS	2/2	7	None	None	None							None None	None None None None	None
	View	combined sample_74.variant35	9	rs756640458,rs781277656 dbSNP Clinvar	131250086	1786.57	ACAC	A,AAC	PASS	2/2	69	None	None	None							None None	None None None None	ODF2\|0.331855819\|25.34%
	View	combined sample_74.variant35	9	rs765826569,rs763753969 dbSNP Clinvar	131284914	213.26	TAA	T,TA	PASS	2/2	17	None	None	None							None None	None None None None	GLE1\|0.149431916\|43.09%
	View	combined sample_74.variant35	10	.	135481405	106.77	C	A,G	PASS	2/2	2	None	None	None							None None	None None None None	None
	View	combined sample_74.variant35	10	.	135484458	55.75	G	T,A	PASS	2/2	3	None	None	None							None None	None None None None	None
	View	combined sample_74.variant35	10	rs56802263,rs397949681 dbSNP Clinvar	5684616	175.83	G	GT...	PASS	2/2	4	None	None	None	0.54433	0.54430					None None	None None None None	ASB13\|0.068952788\|57.74%
	View	combined sample_74.variant35	10	rs370753351 dbSNP Clinvar	135491277	106.77	G	C,A	PASS	2/2	2	None	None	None							None None	None None None None	None
	View	combined sample_74.variant35	10	rs35672201,rs5785907 dbSNP Clinvar	71026219	114.01	T	TA...	PASS	2/2	8	None	None	None	0.63698	0.63700					None None	None None None None	HKDC1\|0.10791713\|49.6%
	View	combined sample_74.variant35	11	rs878888766,rs758560772 dbSNP Clinvar	9878332	275.76	ATT	A,AT	PASS	2/2	15	None	None	None							None None	None None None None	SBF2\|0.666536202\|9.49%
	View	combined sample_74.variant35	10	rs199643324,rs554877514,rs869160819 dbSNP Clinvar	124595874	2224.37	GAA	G,GA	PASS	2/2	129	None	None	None		0.16270					None None	None None None None	CUZD1\|0.014333195\|77.61%
	View	combined sample_74.variant35	10	rs142064582 dbSNP Clinvar	135490903	46.72	C	T,G	PASS	2/2	2	None	None	None	0.41114	0.41110					None None	None None None None	None
	View	combined sample_74.variant35	11	rs59472811 dbSNP Clinvar	5664356	323.91	T	TA...	PASS	2/2	7	None	None	None	0.45527	0.45530					None None	None None None None	HBG2\|0.024133976\|72.16%,TRIM6-TRIM34\|0.003746095\|87.35%,TRIM34\|0.007077239\|83.41%
	View	combined sample_74.variant35	11	rs759568000 dbSNP Clinvar	9001289	1287.08	TAA	T,...	PASS	2/2	50	None	None	None							None None	None None None None	None
	View	combined sample_74.variant35	11	rs774963166 dbSNP Clinvar	20680600	841.59	CA...	C,...	PASS	2/2	26	None	None	None							None None	None None None None	SLC6A5\|0.491195303\|16.26%
	View	combined sample_74.variant35	11	rs113019296 dbSNP Clinvar	22239661	366.29	TCA	TC...	PASS	2/2	6	None	None	None							None None	None None None None	ANO5\|0.057436384\|60.57%
	View	combined sample_74.variant35	11	rs398015551 dbSNP Clinvar	22301410	1512.13	CTT	CT,C	PASS	2/2	57	None	None	None							None None	None None None None	ANO5\|0.057436384\|60.57%
	View	combined sample_74.variant35	11	rs35556457,rs774338148,rs74537032 dbSNP Clinvar	27412782	276.61	CTTT	C,...	PASS	2/2	10	None	None	None							None None	None None None None	LGR4\|0.274795395\|29.54%
	View	combined sample_74.variant35	11	rs879181252 dbSNP Clinvar	55033273	367.0	CA	CA...	PASS	2/2	15	None	None	None							None None	None None None None	TRIM48\|0.000951348\|95.78%
	View	combined sample_74.variant35	11	.	62124696	52.48	CT...	CT...	PASS	2/2	6	None	None	None							None None	None None None None	ASRGL1\|0.018656675\|74.89%

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+ Genes 18

+ Genes associated with diseases 4

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

ANGPT2

ASCC2

DCAF8L2

DFNB59

DUX4

DUX4L4

DUX4L5

FADS6

FCGR3A

FMNL2

HLA-A

HMGA1

IVL

NPSR1

PKD1L2

RPL14

TAS2R43

TTLL8

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