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INDIVIDUALS: SNP LIST:	GROUPS: SAVED GENE LIST: GENE LIST:	INDIVIDUALS: EXCLUDE SNP LIST:	EXCLUDE GROUPS: EXCLUDE SAVED GENE LIST: EXCLUDE GENE LIST:
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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
CADD	EXCLUDE VARIANTS WITHOUT CADD SCORE	MCAP	EXCLUDE VARIANTS WITHOUT M-CAP SCORE

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Genes:
ADH1C, ANKRD30BL, CCDC144NL, CEP89, FOXD4, GBA3, LEPREL2, MED28, METTL8, MROH5, NDUFS6, NLRP8, OAS2, OR52E8, PKD1L2, PNLIPRP2, PRIM2, PTCHD3, SERPINB11, TAAR9, TAS2R19, TGOLN2, TMEM120A, TSGA10IP, ZNF443,

+ Genes associated with diseases 2

Genes at Omim

ADH1C, NDUFS6,

ADH1C	{Parkinson disease, susceptibility to}, 168600 (3) {Alcohol dependence, protection against}, 103780 (3)
NDUFS6	Mitochondrial complex I deficiency, nuclear type 9, 618232 (3)

Genes at Clinical Genomics Database

NDUFS6,

NDUFS6	Mitochondrial complex I deficiency

Genes at HGMD

Summary

Number of Variants: 25
Number of Genes: 25

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	goku_snps_indels	4	rs283413 dbSNP Clinvar	100268190	6800.77	A	C	PASS	1/1	226	STOP_LOST	HIGH	None	0.99281	0.99280	0.00839				None None	None None None None	None
ANKRD30BL
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	goku_snps_indels	2	rs142209162 dbSNP Clinvar	132905706	2995.77	A	G	PASS	0/1	368	STOP_LOST	HIGH	None							None None	None None None None	ANKRD30BL\|0.00124875\|94.17%
CCDC144NL
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	goku_snps_indels	17	rs4605228 dbSNP Clinvar	20768730	290.77	A	G	PASS	0/1	121	STOP_LOST	HIGH	None	0.01018	0.01018					None None	None None None None	CCDC144NL\|0.000779475\|96.79%
CEP89
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	goku_snps_indels	19	rs745961 dbSNP Clinvar	33370070	1467.77	A	G	PASS	0/1	86	STOP_LOST	HIGH	None	0.16434	0.16430	0.27134				None None	None None None None	CEP89\|0.007695004\|82.86%
FOXD4
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	goku_snps_indels	9	rs79220013 dbSNP Clinvar	116800	692.77	C	G	PASS	1/1	20	STOP_LOST	HIGH	None			0.20310			0.03	None None	None None None None	FOXD4\|0.006056969\|84.51%
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	goku_snps_indels	4	rs358231 dbSNP Clinvar	22820504	2278.77	A	T	PASS	0/1	177	STOP_LOST	HIGH	None	0.89157	0.89160	0.11608				None None	None None None None	None
LEPREL2
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	goku_snps_indels	12	rs1129649 dbSNP Clinvar	6948468	1649.77	T	C	PASS	1/1	51	STOP_LOST	HIGH	None	0.37879	0.37880	0.34588	0.45	0.00		None None	None None None None	P3H3\|0.042788046\|64.86%
MED28
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	goku_snps_indels	4	rs2315552 dbSNP Clinvar	17627294	5073.77	A	G	PASS	1/1	167	STOP_LOST	HIGH	None	0.48263	0.48260					None None	None None None None	MED28\|0.193447823\|37.48%
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	goku_snps_indels	2	rs10205459 dbSNP Clinvar	172180771	6917.77	A	G	PASS	1/1	237	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	goku_snps_indels	8	rs6578185 dbSNP Clinvar	142458053	514.77	A	G	PASS	0/1	48	STOP_LOST	HIGH	None	0.34645	0.34640	0.40823				None None	None None None None	MROH5\|0.004135597\|86.82%
NDUFS6
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	goku_snps_indels	5	rs4147773 dbSNP Clinvar	1814783	4873.77	T	C	PASS	1/1	170	STOP_LOST	HIGH	None	0.61302	0.61300					None None	None None None None	NDUFS6\|0.00883288\|81.82%
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	goku_snps_indels	19	rs306457 dbSNP Clinvar	56499279	2872.77	G	C	PASS	1/1	98	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	goku_snps_indels	12	rs15895 dbSNP Clinvar	113448288	1921.77	A	G	PASS	1/1	63	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	goku_snps_indels	11	rs12419602 dbSNP Clinvar	5877979	2781.77	T	A	PASS	0/1	214	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	goku_snps_indels	16	rs8054182 dbSNP Clinvar	81145807	6463.77	C	G	PASS	1/1	204	STOP_LOST	HIGH	None	0.83666	0.83670	0.08046				None None	None None None None	PKD1L2\|0.005531409\|85.17%
PNLIPRP2
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	goku_snps_indels	10	rs11544712 dbSNP Clinvar	118387282	336.77	A	G	PASS	1/1	13	STOP_LOST	HIGH	None	0.36222	0.36220	0.28099				None None	None None None None	PNLIPRP2\|0.021607761\|73.38%
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	goku_snps_indels	6	rs4535533 dbSNP Clinvar	57467100	5121.77	G	C	PASS	0/1	266	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	goku_snps_indels	10	rs2505323 dbSNP Clinvar	27687225	708.77	A	G	PASS	0/1	67	STOP_LOST	HIGH	None	0.55012	0.55010	0.36821				None None	None None None None	PTCHD3\|0.001856639\|91.39%
SERPINB11
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	goku_snps_indels	18	rs4940595 dbSNP Clinvar	61379838	1782.77	T	G	PASS	0/1	203	STOP_LOST	HIGH	None			0.34001				None None	None None None None	SERPINB11\|0.015027277\|77.1%
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	goku_snps_indels	6	rs2842899 dbSNP Clinvar	132859609	15609.8	T	A	PASS	1/1	502	STOP_LOST	HIGH	None	0.80571	0.80570	0.23857				None None	None None None None	None
TAS2R19
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	goku_snps_indels	12	rs79475879 dbSNP Clinvar	11174271	1574.77	T	C	PASS	0/1	225	STOP_LOST	HIGH	None							None None	None None None None	PRR4\|0.000493683\|98.46%,TAS2R14\|0.00022192\|99.72%,TAS2R19\|0.000335865\|99.27%
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	goku_snps_indels	2	rs4240199 dbSNP Clinvar	85549868	1690.77	A	G	PASS	0/1	138	STOP_LOST	HIGH	None	0.77895	0.77900	0.33657	0.04	0.00		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	goku_snps_indels	7	rs4732519 dbSNP Clinvar	75621827	1132.77	A	G	PASS	1/1	35	STOP_LOST	HIGH	None	1.00000	1.00000					None None	None None None None	None
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	goku_snps_indels	11	rs9795469 dbSNP Clinvar	65713207	1675.77	T	C	PASS	1/1	60	STOP_LOST	HIGH	None	0.99940	0.99940	0.00072				None None	None None None None	None
ZNF443
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	goku_snps_indels	19	rs28559848 dbSNP Clinvar	12540971	4954.77	T	A	PASS	0/1	368	STOP_LOST	HIGH	None	0.27676	0.27680					None None	None None None None	ZNF443\|0.000694602\|97.28%

+ Filter Options

FREQUENCIES

SCORES

+ Genes 25

+ Genes associated with diseases 2

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

ADH1C

ANKRD30BL

CCDC144NL

CEP89

FOXD4

GBA3

LEPREL2

MED28

METTL8

MROH5

NDUFS6

NLRP8

OAS2

OR52E8

PKD1L2

PNLIPRP2

PRIM2

PTCHD3

SERPINB11

TAAR9

TAS2R19

TGOLN2

TMEM120A

TSGA10IP

ZNF443

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