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+ 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 4

Genes:
ARHGEF5, CMTM1, KMT2C, MROH8,

+ Genes associated with diseases 1

Genes at Omim

KMT2C,

KMT2C	Kleefstra syndrome 2, 617768 (3)

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 4
Number of Genes: 4

Export to: CSV

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ARHGEF5
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	s75952_filtered_snps_and_indels	7	rs766185415 dbSNP Clinvar	144059763	645.73	A	AT...	PASS	0/1	125	FRAME_SHIFT+STOP_GAINED	HIGH								None None	None None None None	ARHGEF5\|0.018074391\|75.24%
CMTM1
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	s75952_filtered_snps_and_indels	16	rs559055211 dbSNP Clinvar	66600730	1806.73	T	TA...	PASS	0/1	109	FRAME_SHIFT+STOP_GAINED	HIGH		0.00419	0.00419					None None	None None None None	CKLF-CMTM1\|0.010251686\|80.69%,CMTM1\|0.000243175\|99.65%
KMT2C
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	s75952_filtered_snps_and_indels	7	rs150073007 dbSNP Clinvar	151945071	805.73	G	GT	PASS	0/1	190	FRAME_SHIFT+STOP_GAINED	HIGH								None None	None None None None	KMT2C\|0.088346598\|53.58%
MROH8
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	s75952_filtered_snps_and_indels	20	.	35807790	706.73	G	GC...	PASS	1/2	17	FRAME_SHIFT+STOP_GAINED	HIGH		0.32368						None None	None None None None	MROH8\|0.030021625\|69.39%,RPN2\|0.272886189\|29.64%

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