Mendel,MD | Dashboard

+ Filter Options

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

OPEN RESULT IN A NEW WINDOW

RESET FILTER | Save Config | Save Analysis

+ Genes 15

Genes:
BCLAF1, FCGBP, HLA-DRB5, ITGB5, MUC17, MUC4, NCOR1, OR2T33, OR2T4, RLTPR, RP11-830F9.6, TCEB3C, TCP10, USP6, ZKSCAN5,

+ Genes associated with diseases

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 18
Number of Genes: 15

Export to: CSV

Page 1 of 1

Page 1 of 1

Some information about this general settings option

Other sets of options are available

Allow the user to show his name in blog posts

BCLAF1
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	432 varscan snp snpann	6	rs7381749 dbSNP Clinvar	136594292	0.0	T	C	PASS	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	None				0.35	0.02		None None	None None None None	BCLAF1\|0.862204176\|4.44%
FCGBP
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	432 varscan snp snpann	19	rs2542320 dbSNP Clinvar	40376881	0.0	G	C	PASS	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	None	0.31030	0.31030		0.91	0.00		None None	None None None None	FCGBP\|0.004084506\|86.87%
HLA-DRB5
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	432 varscan snp snpann	6	rs72508462 dbSNP Clinvar	32497918	0.0	C	G	PASS	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	None				0.31	1.00		None None	None None None None	HLA-DRB5\|0.020830666\|73.74%
	View	432 varscan snp snpann	6	rs73727923 dbSNP Clinvar	32497928	0.0	G	C	PASS	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	None				0.03	1.00		None None	None None None None	HLA-DRB5\|0.020830666\|73.74%
ITGB5
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	432 varscan snp snpann	3	.	124592368	0.0	T	C	PASS	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	None				0.06	0.00		None None	None None None None	ITGB5\|0.313332294\|26.57%
MUC17
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	432 varscan snp snpann	7	rs141963257 dbSNP Clinvar	100677405	0.0	G	A	PASS	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	None	0.18031	0.18030		0.02	0.00		None None	None None None None	MUC17\|0.000618625\|97.79%
MUC4
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	432 varscan snp snpann	3	rs143286669 dbSNP Clinvar	195507011	0.0	G	A	PASS	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	None				0.07	0.45		None None	None None None None	MUC4\|0.005441696\|85.29%
	View	432 varscan snp snpann	3	rs200570709 dbSNP Clinvar	195508510	0.0	A	T	PASS	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	None	0.05791	0.05791		0.54	0.87		None None	None None None None	MUC4\|0.005441696\|85.29%
NCOR1
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	432 varscan snp snpann	17	rs76145228 dbSNP Clinvar	16097870	0.0	C	A	PASS	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	None				0.01	0.83		None None	None None None None	NCOR1\|0.942283614\|2.42%
OR2T33
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	432 varscan snp snpann	1	rs142669752 dbSNP Clinvar	248436527	0.0	A	C	PASS	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	None				0.00	0.90		None None	None None None None	OR2T33\|0.001762922\|91.63%
OR2T4
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	432 varscan snp snpann	1	rs45552134 dbSNP Clinvar	248524992	0.0	A	G	PASS	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	None			0.02256	0.02	0.03		None None	None None None None	OR2T4\|0.002485835\|89.73%
RLTPR
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	432 varscan snp snpann	16	.	67686429	0.0	C	G	PASS	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	None				0.21	0.01		None None	None None None None	RLTPR\|0.06217371\|59.27%
RP11-830F9.6
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	432 varscan snp snpann	16	rs200229860 dbSNP Clinvar	89017100	0.0	C	G	PASS	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	None				0.72	0.00		None None	None None None None	CBFA2T3\|0.054882629\|61.22%
TCEB3C
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	432 varscan snp snpann	18	rs2510019 dbSNP Clinvar	44555312	0.0	G	C	PASS	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	None				0.02	0.13		None None	None None None None	KATNAL2\|0.157340058\|41.98%,TCEB3C\|0.00055121\|98.17%
TCP10
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	432 varscan snp snpann	6	rs3010584 dbSNP Clinvar	167786750	0.0	C	A	PASS	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	None				0.45	0.00		None None	None None None None	TCP10\|0.000628006\|97.7%
USP6
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	432 varscan snp snpann	17	rs76236903 dbSNP Clinvar	5036281	0.0	G	C	PASS	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	None				0.39	0.00		None None	None None None None	USP6\|0.033697687\|67.88%
	View	432 varscan snp snpann	17	rs78465432 dbSNP Clinvar	5036274	0.0	C	A	PASS	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	None				1.00	0.00		None None	None None None None	USP6\|0.033697687\|67.88%
ZKSCAN5
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	432 varscan snp snpann	7	.	99129660	0.0	A	G	PASS	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	None				0.38	0.00		None None	None None None None	ZKSCAN5\|0.033344501\|68%

+ Filter Options

FREQUENCIES

SCORES

+ Genes 15

+ Genes associated with diseases

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

BCLAF1

FCGBP

HLA-DRB5

ITGB5

MUC17

MUC4

NCOR1

OR2T33

OR2T4

RLTPR

RP11-830F9.6

TCEB3C

TCP10

USP6

ZKSCAN5

Langdon's Birthday

Frodo Updated His Profile

Nora Joined Mailing List

Cron Job 254 Executed