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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 12

Genes:
AC110781.3, APOL4, ATP6V1B1, ERCC6L2, HIBCH, LENG9, MTTP, OR8K1, OTOR, PCDH20, RNF133, SCAPER,

+ Genes associated with diseases 5

Genes at Omim

APOL4, ERCC6L2, HIBCH, MTTP, SCAPER,

APOL4	{Schizophrenia}, 181500 (1)
ERCC6L2	Bone marrow failure syndrome 2, 615715 (3)
HIBCH	3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3)
MTTP	{Metabolic syndrome, protection against}, 605552 (3) Abetalipoproteinemia, 200100 (3)
SCAPER	Intellectual developmental disorder and retinitis pigmentosa, 618195 (3)

Genes at Clinical Genomics Database

ATP6V1B1, ERCC6L2, HIBCH, MTTP,

ATP6V1B1	Renal tubular acidosis with deafness
ERCC6L2	Bone marrow failure syndrome 2
HIBCH	3-hydroxyisobutryl-CoA hydrolase deficiency
MTTP	Abetalipoproteinemia

Genes at HGMD

Summary

Number of Variants: 12
Number of Genes: 12

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	udp2568_axeq_1_hs37d5_remdup-uniqmap	7	rs3889573 dbSNP Clinvar	1878377	222.0	A	G	.	1/1	0	START_LOST	HIGH	MISSENSE	0.83646	0.83650			0.00		None None	None None None None	MAD1L1\|0.134111219\|45.25%
APOL4
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	udp2568_axeq_1_hs37d5_remdup-uniqmap	22	rs6000181 dbSNP Clinvar	36598081	102.0	A	T	.	0/1	0	START_LOST	HIGH	MISSENSE	0.07668	0.07668	0.08435	0.00	0.01		None None	None None None None	APOL4\|0.000586223\|97.99%
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	udp2568_axeq_1_hs37d5_remdup-uniqmap	2	rs11681642 dbSNP Clinvar	71163086	225.0	T	C	.	0/1	0	START_LOST	HIGH	MISSENSE	0.36881	0.36880	0.41504	0.00	0.60		None None	None None None None	ATP6V1B1\|0.123167959\|46.96%
ERCC6L2
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	udp2568_axeq_1_hs37d5_remdup-uniqmap	9	rs690528 dbSNP Clinvar	98638288	220.0	A	G	.	0/1	0	START_LOST	HIGH	MISSENSE	0.25240	0.25240	0.24126	0.71	0.00		None None	None None None None	ERCC6L2\|0.051614036\|62.16%
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	udp2568_axeq_1_hs37d5_remdup-uniqmap	2	rs291466 dbSNP Clinvar	191184475	225.0	A	G	.	0/1	0	START_LOST	HIGH	MISSENSE	0.43171	0.43170	0.44810	0.01	0.02		None None	None None None None	HIBCH\|0.096813865\|51.74%
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	udp2568_axeq_1_hs37d5_remdup-uniqmap	19	rs1981829 dbSNP Clinvar	54974774	37.0	A	T	.	1/1	0	START_LOST	HIGH	MISSENSE	0.59365	0.59370		0.02	0.00		None None	None None None None	LENG9\|0.000334699\|99.27%
MTTP
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	udp2568_axeq_1_hs37d5_remdup-uniqmap	4	rs11944752 dbSNP Clinvar	100485255	63.0	G	A	.	0/1	0	START_LOST	HIGH	MISSENSE	0.25000	0.25000			0.00		None None	None None None None	MTTP\|0.164689629\|40.96%
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	udp2568_axeq_1_hs37d5_remdup-uniqmap	11	rs1905055 dbSNP Clinvar	56113516	222.0	T	C	.	1/1	0	START_LOST	HIGH	MISSENSE	0.77995	0.78000	0.32099	0.00	0.01		None None	None None None None	OR8K1\|0.005619396\|85.08%
OTOR
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	udp2568_axeq_1_hs37d5_remdup-uniqmap	20	rs17686437 dbSNP Clinvar	16729048	225.0	T	C	.	0/1	0	START_LOST	HIGH	MISSENSE	0.01997	0.01997	0.03306	0.00	0.55		None None	None None None None	OTOR\|0.264463385\|30.33%
PCDH20
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	udp2568_axeq_1_hs37d5_remdup-uniqmap	13	rs182750134 dbSNP Clinvar	61989290	52.0	A	G	.	0/1	0	START_LOST	HIGH	MISSENSE	0.00080	0.00080		0.00	0.01		None None	None None None None	PCDH20\|0.260039038\|30.73%
RNF133
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	udp2568_axeq_1_hs37d5_remdup-uniqmap	7	rs71574716 dbSNP Clinvar	122338970	225.0	C	T	.	0/1	0	START_LOST	HIGH	MISSENSE	0.01817	0.01817	0.03029	0.00	0.01		None None	None None None None	CADPS2\|0.856231857\|4.53%,RNF133\|0.033306644\|68.03%
SCAPER
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	udp2568_axeq_1_hs37d5_remdup-uniqmap	15	rs3812908 dbSNP Clinvar	77176158	95.0	T	C	.	0/1	0	START_LOST	HIGH	MISSENSE	0.41773	0.41770	0.29627	0.15	0.00		None None	None None None None	SCAPER\|0.365657343\|23.01%

+ Filter Options

FREQUENCIES

SCORES

+ Genes 12

+ Genes associated with diseases 5

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

AC110781.3

APOL4

ATP6V1B1

ERCC6L2

HIBCH

LENG9

MTTP

OR8K1

OTOR

PCDH20

RNF133

SCAPER

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