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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:
ACTN3, ADH1C, ANKRD30BL, CEP89, FOXD4, GBA3, MED28, METTL8, NDUFS6, NLRP8, NPSR1, OAS2, OR11H7, OR12D1, PKD1L2, PRIM2, PTCHD3, RP11-487E13.1, RP11-507M3.1, RPS21, SERPINB11, TAAR9, TAP2, TAS2R19, TGOLN2, TMEM120A, TRIM48, TSGA10IP, ZNF443,

+ Genes associated with diseases 5

Genes at Omim

ACTN3, ADH1C, NDUFS6, NPSR1, TAP2,

ACTN3	[Alpha-actinin-3 deficiency], 617749 (3) [Sprinting performance], 617749 (3)
ADH1C	{Parkinson disease, susceptibility to}, 168600 (3) {Alcohol dependence, protection against}, 103780 (3)
NDUFS6	Mitochondrial complex I deficiency, nuclear type 9, 618232 (3)
NPSR1	{Asthma, susceptibility to, 2}, 608584 (3)
TAP2	Bare lymphocyte syndrome, type I, due to TAP2 deficiency, 604571 (3)

Genes at Clinical Genomics Database

NDUFS6, TAP2,

NDUFS6	Mitochondrial complex I deficiency
TAP2	Bare lymphocyte syndrome, type I

Genes at HGMD

Summary

Number of Variants: 29
Number of Genes: 29

Export to: CSV

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ACTN3
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_42.variant6	11	rs1815739 dbSNP Clinvar	66328095	271.98	T	C	PASS	0/1	80	STOP_LOST	HIGH	None	0.59924	0.59920	0.35908				None None	None None None None	None
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	combined sample_42.variant6	4	rs283413 dbSNP Clinvar	100268190	1081.15	A	C	PASS	1/1	56	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	combined sample_42.variant6	2	rs142209162 dbSNP Clinvar	132905706	939.81	A	G	PASS	0/1	99	STOP_LOST	HIGH	None							None None	None None None None	ANKRD30BL\|0.00124875\|94.17%
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	combined sample_42.variant6	19	rs745961 dbSNP Clinvar	33370070	1648.38	A	G	PASS	0/1	89	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	combined sample_42.variant6	9	rs79220013 dbSNP Clinvar	116800	51.2	C	G	PASS	1/1	3	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	combined sample_42.variant6	4	rs358231 dbSNP Clinvar	22820504	630.1	A	T	PASS	1/1	96	STOP_LOST	HIGH	None	0.89157	0.89160	0.11608				None None	None None None None	None
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	combined sample_42.variant6	4	rs2315552 dbSNP Clinvar	17627294	5242.18	A	G	PASS	1/1	156	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	combined sample_42.variant6	2	rs10205459 dbSNP Clinvar	172180771	3975.95	A	G	PASS	1/1	108	STOP_LOST	HIGH	None	0.99820	0.99820	0.00241				None None	None None None None	METTL8\|0.246340052\|31.91%
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	combined sample_42.variant6	5	rs4147773 dbSNP Clinvar	1814783	3095.71	T	C	PASS	1/1	140	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	combined sample_42.variant6	19	rs306457 dbSNP Clinvar	56499279	2199.83	G	C	PASS	0/1	204	STOP_LOST	HIGH	None	0.72464	0.72460	0.26672				None None	None None None None	NLRP8\|0.000383915\|99.05%
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_42.variant6	7	rs10275028 dbSNP Clinvar	34889222	1522.98	T	C	PASS	0/1	154	STOP_LOST	HIGH	None	0.26717	0.26720	0.36353				None None	None None None None	NPSR1\|0.153358604\|42.47%
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	combined sample_42.variant6	12	rs15895 dbSNP Clinvar	113448288	887.92	A	G	PASS	0/1	75	STOP_LOST	HIGH	None	0.86442	0.86440	0.25027				None None	None None None None	OAS2\|0.001433626\|93.17%
OR11H7
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_42.variant6	14	rs1953558 dbSNP Clinvar	20698239	5914.7	T	C	PASS	1/1	160	STOP_LOST	HIGH	None	0.46426	0.46430					None None	None None None None	None
OR12D1
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_42.variant6	6	rs1011985 dbSNP Clinvar	29385772	1810.42	G	C	PASS	0/1	155	STOP_LOST	HIGH	None	0.76837	0.76840					None None	None None None None	OR5V1\|0.002888171\|88.86%
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_42.variant6	16	rs8054182 dbSNP Clinvar	81145807	5986.02	C	G	PASS	1/1	243	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	combined sample_42.variant6	6	rs4535533 dbSNP Clinvar	57467100	4516.6	G	C	PASS	0/1	221	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	combined sample_42.variant6	10	rs2505323 dbSNP Clinvar	27687225	6922.71	A	G	PASS	0/1	206	STOP_LOST	HIGH	None	0.55012	0.55010	0.36821				None None	None None None None	PTCHD3\|0.001856639\|91.39%
RP11-487E13.1
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	combined sample_42.variant6	4	rs72702906 dbSNP Clinvar	178163809	2334.98	T	G	PASS	0/1	187	STOP_LOST	HIGH	None	0.04333	0.04333					None None	None None None None	None
RP11-507M3.1
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	combined sample_42.variant6	2	rs889830 dbSNP Clinvar	24395506	1247.37	T	C	PASS	1/1	26	STOP_LOST	HIGH	None	0.81350	0.81350					None None	None None None None	None
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	combined sample_42.variant6	20	rs911077 dbSNP Clinvar	60963055	2681.07	T	C	PASS	0/1	318	STOP_LOST	HIGH	None	0.12640	0.12640					None None	None None None None	RPS21\|0.080763432\|55.01%
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	combined sample_42.variant6	18	rs4940595 dbSNP Clinvar	61379838	4639.87	T	G	PASS	1/1	140	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	combined sample_42.variant6	6	rs2842899 dbSNP Clinvar	132859609	3366.95	T	A	PASS	0/1	264	STOP_LOST	HIGH	None	0.80571	0.80570	0.23857				None None	None None None None	None
TAP2
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_42.variant6	6	rs241448 dbSNP Clinvar	32796685	277.24	A	G	PASS	0/1	83	STOP_LOST	HIGH	None	0.31110	0.31110	0.18023				None None	None None None None	TAP2\|0.028431787\|70.24%
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	combined sample_42.variant6	12	rs79475879 dbSNP Clinvar	11174271	132.18	T	C	PASS	0/1	183	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	combined sample_42.variant6	2	rs4240199 dbSNP Clinvar	85549868	997.74	A	G	PASS	1/1	78	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	combined sample_42.variant6	7	rs4732519 dbSNP Clinvar	75621827	1398.61	A	G	PASS	1/1	52	STOP_LOST	HIGH	None	1.00000	1.00000					None None	None None None None	None
TRIM48
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_42.variant6	11	rs61894893 dbSNP Clinvar	55036812	277.6	T	C	PASS	0/1	35	STOP_LOST	HIGH	None	0.04832	0.04832	0.02163				None None	None None None None	TRIM48\|0.000951348\|95.78%
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	combined sample_42.variant6	11	rs9795469 dbSNP Clinvar	65713207	3117.72	T	C	PASS	1/1	154	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	combined sample_42.variant6	19	rs28559848 dbSNP Clinvar	12540971	673.82	T	A	PASS	1/1	113	STOP_LOST	HIGH	None	0.27676	0.27680					None None	None None None None	ZNF443\|0.000694602\|97.28%