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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 16

Genes:
ADH1C, GBA3, METTL8, MROH5, NLRP8, OAS2, OR52E8, PKD1L2, PRIM2, PTCHD3, RPS21, TAAR9, TGOLN2, TMEM120A, TRIM58, TSGA10IP,

+ Genes associated with diseases 1

Genes at Omim

ADH1C,

ADH1C	{Alcohol dependence, protection against}, 103780 (3) {Parkinson disease, susceptibility to}, 168600 (3)

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 16
Number of Genes: 16

Export to: CSV

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ADH1C
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	042_tsvc_variants	4	rs283413 dbSNP Clinvar	100268190	1744.27	A	C	PASS	1/1	197	STOP_LOST	HIGH	None	0.99281	0.99280	0.00839				None None	None None None None	None
GBA3
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	042_tsvc_variants	4	rs358231 dbSNP Clinvar	22820504	1048.18	A	T	PASS	1/1	111	STOP_LOST	HIGH	None	0.89157	0.89160	0.11608				None None	None None None None	None
METTL8
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	042_tsvc_variants	2	rs10205459 dbSNP Clinvar	172180771	519.8	A	G	PASS	1/1	55	STOP_LOST	HIGH	None	0.99820	0.99820	0.00241				None None	None None None None	METTL8\|0.246340052\|31.91%
MROH5
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	042_tsvc_variants	8	rs6578185 dbSNP Clinvar	142458053	203.62	A	G	PASS	0/1	106	STOP_LOST	HIGH	None	0.34645	0.34640	0.40823				None None	None None None None	MROH5\|0.004135597\|86.82%
NLRP8
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	042_tsvc_variants	19	rs306457 dbSNP Clinvar	56499279	283.35	G	C	PASS	1/1	33	STOP_LOST	HIGH	None	0.72464	0.72460	0.26672				None None	None None None None	NLRP8\|0.000383915\|99.05%
OAS2
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	042_tsvc_variants	12	rs15895 dbSNP Clinvar	113448288	1351.01	A	G	PASS	1/1	139	STOP_LOST	HIGH	None	0.86442	0.86440	0.25027				None None	None None None None	OAS2\|0.001433626\|93.17%
OR52E8
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	042_tsvc_variants	11	rs12419602 dbSNP Clinvar	5877979	283.55	T	A	PASS	0/1	104	STOP_LOST	HIGH	None	0.37480	0.37480	0.41063				None None	None None None None	TRIM5\|0.00243037\|89.82%,OR52E8\|0.008250943\|82.4%
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	042_tsvc_variants	16	rs8054182 dbSNP Clinvar	81145807	1795.91	C	G	PASS	1/1	188	STOP_LOST	HIGH	None	0.83666	0.83670	0.08046				None None	None None None None	PKD1L2\|0.005531409\|85.17%
PRIM2
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	042_tsvc_variants	6	rs4535533 dbSNP Clinvar	57467100	1189.55	G	C	PASS	0/1	297	STOP_LOST	HIGH	None							None None	None None None None	PRIM2\|0.188824743\|37.96%
PTCHD3
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	042_tsvc_variants	10	rs2505323 dbSNP Clinvar	27687225	604.62	A	G	PASS	1/1	64	STOP_LOST	HIGH	None	0.55012	0.55010	0.36821				None None	None None None None	PTCHD3\|0.001856639\|91.39%
RPS21
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	042_tsvc_variants	20	rs911077 dbSNP Clinvar	60963055	1289.62	T	C	PASS	1/1	134	STOP_LOST	HIGH	None	0.12640	0.12640					None None	None None None None	RPS21\|0.080763432\|55.01%
TAAR9
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	042_tsvc_variants	6	rs2842899 dbSNP Clinvar	132859609	1023.34	T	A	PASS	1/1	106	STOP_LOST	HIGH	None	0.80571	0.80570	0.23857				None None	None None None None	None
TGOLN2
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	042_tsvc_variants	2	rs4240199 dbSNP Clinvar	85549868	120.61	A	G	PASS	0/1	73	STOP_LOST	HIGH	None	0.77895	0.77900	0.33657	0.04	0.89		None None	None None None None	TGOLN2\|0.000615886\|97.82%
TMEM120A
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	042_tsvc_variants	7	rs4732519 dbSNP Clinvar	75621827	1325.8	A	G	PASS	1/1	138	STOP_LOST	HIGH	None	1.00000	1.00000					None None	None None None None	None
TRIM58
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	042_tsvc_variants	1	rs148369481 dbSNP Clinvar	248039789	213.45	T	C	PASS	0/1	40	STOP_LOST	HIGH	None	0.00200	0.00200	0.00600				None None	None None None None	TRIM58\|0.007719894\|82.83%,OR2W3\|0.01466568\|77.39%
TSGA10IP
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	042_tsvc_variants	11	rs9795469 dbSNP Clinvar	65713207	974.3	T	C	PASS	1/1	105	STOP_LOST	HIGH	None	0.99940	0.99940	0.00072				None None	None None None None	None

+ Filter Options

FREQUENCIES

SCORES

+ Genes 16

+ Genes associated with diseases 1

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

ADH1C

GBA3

METTL8

MROH5

NLRP8

OAS2

OR52E8

PKD1L2

PRIM2

PTCHD3

RPS21

TAAR9

TGOLN2

TMEM120A

TRIM58

TSGA10IP

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