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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 14

Genes:
AC110781.3, ATP6V1B1, HAS1, HIBCH, IGLV2-33, IGLV3-12, IL1B, JSRP1, KCNJ16, LENG9, OR8K1, PRAM1, RP11-351M8.1, USP17L17,

+ Genes associated with diseases 2

Genes at Omim

HIBCH, IL1B,

HIBCH	3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3)
IL1B	{Gastric cancer risk after H. pylori infection}, 137215 (3)

Genes at Clinical Genomics Database

ATP6V1B1, HIBCH,

ATP6V1B1	Renal tubular acidosis with deafness
HIBCH	3-hydroxyisobutryl-CoA hydrolase deficiency

Genes at HGMD

Summary

Number of Variants: 14
Number of Genes: 14

Export to: CSV

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AC110781.3
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_46.variant10	7	rs3889573 dbSNP Clinvar	1878377	2763.88	A	G	PASS	1/1	173	START_LOST	HIGH	None	0.83646	0.83650			0.00		None None	None None None None	MAD1L1\|0.134111219\|45.25%
ATP6V1B1
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_46.variant10	2	rs11681642 dbSNP Clinvar	71163086	3781.72	T	C	PASS	0/1	163	START_LOST	HIGH	None	0.36881	0.36880	0.41504	0.00	0.60		None None	None None None None	ATP6V1B1\|0.123167959\|46.96%
HAS1
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_46.variant10	19	rs56166910 dbSNP Clinvar	52223180	1524.65	A	G	PASS	0/1	106	START_LOST	HIGH	None	0.44169	0.44170	0.31876	0.12	0.02		None None	None None None None	HAS1\|0.18273667\|38.7%
HIBCH
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_46.variant10	2	rs291466 dbSNP Clinvar	191184475	7267.53	A	G	PASS	0/1	256	START_LOST	HIGH	None	0.43171	0.43170	0.44810	0.01	0.04		None None	None None None None	HIBCH\|0.096813865\|51.74%
IGLV2-33
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_46.variant10	22	rs11914178 dbSNP Clinvar	22930684	1354.43	A	G	PASS	0/1	100	START_LOST	HIGH	None	0.00779	0.00779		0.01	0.42		None None	None None None None	None
IGLV3-12
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_46.variant10	22	rs6003299 dbSNP Clinvar	23114327	1326.6	T	C	PASS	0/1	160	START_LOST	HIGH	None	0.60863	0.60860		0.00	0.95		None None	None None None None	None
IL1B
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_46.variant10	2	rs533327440 dbSNP Clinvar	113593805	1290.67	A	G	PASS	0/1	108	START_LOST	HIGH	None				0.00	1.00		None None	None None None None	IL1B\|0.417352883\|19.73%
JSRP1
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_46.variant10	19	rs7250822 dbSNP Clinvar	2255311	1442.32	C	G	PASS	0/1	127	START_LOST	HIGH	None	0.23482	0.23480	0.15601	0.90	0.00		None None	None None None None	JSRP1\|0.001614314\|92.27%
KCNJ16
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_46.variant10	17	rs7224070 dbSNP Clinvar	68093044	3385.84	A	G	PASS	0/1	94	START_LOST	HIGH	None	0.83107	0.83110			0.00		None None	None None None None	KCNJ16\|0.085500733\|54.06%
LENG9
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_46.variant10	19	rs1981829 dbSNP Clinvar	54974774	1533.61	A	T	PASS	1/1	116	START_LOST	HIGH	None	0.59365	0.59370		0.02	0.00		None None	None None None None	LENG9\|0.000334699\|99.27%
OR8K1
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_46.variant10	11	rs1905055 dbSNP Clinvar	56113516	4227.6	T	C	PASS	0/1	279	START_LOST	HIGH	None	0.77995	0.78000	0.32099	0.00	0.02		None None	None None None None	OR8K1\|0.005619396\|85.08%
PRAM1
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_46.variant10	19	rs968502 dbSNP Clinvar	8567475	1296.16	T	C	PASS	0/1	61	START_LOST	HIGH	None	0.31190	0.31190	0.28596	1.00	0.00		None None	None None None None	PRAM1\|0.002623515\|89.43%
RP11-351M8.1
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_46.variant10	15	rs28450224 dbSNP Clinvar	81201994	3621.09	T	C	PASS	1/1	120	START_LOST	HIGH	None	0.07927	0.07927			0.00		None None	None None None None	CEMIP\|0.062592295\|59.18%
USP17L17
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_46.variant10	4	rs758355781 dbSNP Clinvar	9245606	802.34	T	G	DRAGENHardSNP	1/1	183	START_LOST	HIGH	None				0.00	1.00		None None	None None None None	USP17L17\|0.00170603\|91.84%

+ Filter Options

FREQUENCIES

SCORES

+ Genes 14

+ Genes associated with diseases 2

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

AC110781.3

ATP6V1B1

HAS1

HIBCH

IGLV2-33

IGLV3-12

IL1B

JSRP1

KCNJ16

LENG9

OR8K1

PRAM1

RP11-351M8.1

USP17L17

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