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SELECT VARIANTS FROM		EXCLUDE VARIANTS FROM
INDIVIDUALS: SNP LIST:	GROUPS: SAVED GENE LIST: GENE LIST:	INDIVIDUALS: EXCLUDE SNP LIST:	EXCLUDE GROUPS: EXCLUDE SAVED GENE LIST: EXCLUDE GENE LIST:
SELECT INHERITANCE:
SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:

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
CADD	EXCLUDE VARIANTS WITHOUT CADD SCORE	MCAP	EXCLUDE VARIANTS WITHOUT M-CAP SCORE

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Genes:
ACIN1, AL049840.1, ANKRD9, BRF1, C14orf159, CDH24, CHD8, CKB, COCH, DCAF5, DYNC1H1, EFCAB11, ESR2, EXOC3L4, HEATR4, IGHD5-24, INF2, IRF9, KLHDC2, LRRC9, MAP4K5, NIN, OR4K1, OR4K5, OR4N2, POTEM, PPP2R5C, PSME1, RP11-998D10.1, SYNE2, TMEM30B, TMEM63C, UNC79, VASH1, VIPAS39, ZFHX2, ZFYVE1,

+ Genes associated with diseases 10

Genes at Omim

BRF1, CHD8, COCH, DYNC1H1, ESR2, INF2, NIN, SYNE2, VIPAS39, ZFHX2,

BRF1	Cerebellofaciodental syndrome, 616202 (3)
CHD8	{Autism, susceptibility to, 18}, 615032 (3)
COCH	Deafness, autosomal dominant 9, 601369 (3) ?Deafness, autosomal recessive 110, 618094 (3)
DYNC1H1	Charcot-Marie-Tooth disease, axonal, type 20, 614228 (3) Mental retardation, autosomal dominant 13, 614563 (3) Spinal muscular atrophy, lower extremity-predominant 1, AD, 158600 (3)
ESR2	?Ovarian dysgenesis 8, 618187 (3)
INF2	Charcot-Marie-Tooth disease, dominant intermediate E, 614455 (3) Glomerulosclerosis, focal segmental, 5, 613237 (3)
NIN	?Seckel syndrome 7, 614851 (3)
SYNE2	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999 (3)
VIPAS39	Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 (3)
ZFHX2	?Marsili syndrome, 147430 (3)

Genes at Clinical Genomics Database

BRF1, CHD8, COCH, DYNC1H1, INF2, NIN, SYNE2, VIPAS39,

BRF1	Cerebellofaciodental syndrome
CHD8	Autism, susceptibility to 18
COCH	Deafness, autosomal dominant 9
DYNC1H1	Charcot-Marie-Tooth disease, axonal, type 2O Mental retardation, autosomal dominant 13 Spinal muscular atrophy, lower extremity, autosomal dominant
INF2	Focal segmental glomerulosclerosis 5 Charcot-Marie-Tooth disease, dominant intermediate E
NIN	Seckel syndrome 7
SYNE2	Emery-Dreifuss muscular dystrophy 5, autosomal dominant
VIPAS39	Arthrogryposis, renal dysfunction, and cholestasis 2

Genes at HGMD

Summary

Number of Variants: 3372
Number of Genes: 37

Export to: CSV

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ACIN1
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	wes08-paw final	14	.	23533678	1431.77	G	T	PASS	0/1	135	SYNONYMOUS_CODING	LOW								None None	None None None None	ACIN1\|0.717450786\|8.04%
	View	wes08-paw final	14	.	23530311	79.77	A	G	PASS	0/1	8	SYNONYMOUS_CODING	LOW								None None	None None None None	ACIN1\|0.717450786\|8.04%
AL049840.1
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	wes08-paw final	14	.	104177810	1075.77	C	T	PASS	1/1	31	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE							None None	None None None None	XRCC3\|0.02048833\|73.92%
ANKRD9
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	wes08-paw final	14	.	102973945	1082.77	G	T	PASS	1/1	29	SYNONYMOUS_CODING	LOW	SILENT							None None	None None None None	ANKRD9\|0.023646247\|72.35%
BRF1
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	wes08-paw final	14	.	105707634	826.77	T	C	MG_SNP_Filter	0/1	46	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				0.00	0.96		None None	None None None None	BRF1\|0.023675116\|72.34%
C14orf159
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	wes08-paw final	14	.	91636415	273.77	A	G	PASS	0/1	26	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				0.03	0.00		None None	None None None None	C14orf159\|0.005784406\|84.85%
CDH24
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	wes08-paw final	14	.	23523533	752.77	T	G	PASS	0/1	73	SYNONYMOUS_CODING	LOW	SILENT							None None	None None None None	CDH24\|0.171918773\|40.07%
CHD8
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	wes08-paw final	14	.	21869212	1572.77	G	A	PASS	1/1	46	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				0.06	0.05		None None	None None None None	CHD8\|0.616080012\|11.24%
CKB
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	wes08-paw final	14	.	103986303	870.77	G	A	PASS	1/1	30	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE							None None	None None None None	CKB\|0.155239483\|42.26%
COCH
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	wes08-paw final	14	.	31349841	403.77	C	T	PASS	1/1	13	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				0.00	0.90		None None	None None None None	COCH\|0.517420317\|15.09%
	View	wes08-paw final	14	.	31358870	1676.77	A	C	PASS	1/1	51	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				0.00	1.00		None None	None None None None	COCH\|0.517420317\|15.09%
DCAF5
Omim - GeneCards - NCBI