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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 11

Genes:
CDR1, FLG2, HDAC6, MUC17, NEFM, TRIOBP, ZFP2, ZNF184, ZNF471, ZNF543, ZNF730,

+ Genes associated with diseases 3

Genes at Omim

FLG2, HDAC6, TRIOBP,

FLG2	Peeling skin syndrome 6, 618084 (3)
HDAC6	?Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia, 300863 (3)
TRIOBP	Deafness, autosomal recessive 28, 609823 (3)

Genes at Clinical Genomics Database

HDAC6, TRIOBP,

HDAC6	Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
TRIOBP	Deafness, autosomal recessive 28

Genes at HGMD

Summary

Number of Variants: 14
Number of Genes: 11

Export to: CSV

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CDR1
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	200567_mutation_report1_filtered	X	.	139866504	0.0	G	C,T	PASS	0/2	24	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				0.35	0.87		None None	None None None None	CDR1\|0.000593381\|97.97%
FLG2
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	200567_mutation_report1_filtered	1	rs878975263 dbSNP Clinvar	152328711	0.0	A	G,T	PASS	0/2	80	SYNONYMOUS_CODING	LOW	SILENT							None None	None None None None	FLG2\|0.000542736\|98.23%
	View	200567_mutation_report1_filtered	1	rs771163168 dbSNP Clinvar	152325217	0.0	C	G,T	PASS	0/2	20	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				0.08	0.35		None None	None None None None	FLG2\|0.000542736\|98.23%
HDAC6
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	200567_mutation_report1_filtered	X	.	48681620	0.0	C	A,G	PASS	0/2	27	SYNONYMOUS_CODING	LOW	SILENT							None None	None None None None	HDAC6\|0.116515765\|48.04%
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	200567_mutation_report1_filtered	7	rs150470478 dbSNP Clinvar	100683521	0.0	G	A,T	PASS	0/2	99	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				1.00	0.03		None None	None None None None	MUC17\|0.000618625\|97.79%
NEFM
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	200567_mutation_report1_filtered	8	rs149155920 dbSNP Clinvar	24775405	0.0	A	C,T	PASS	0/2	31	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE		0.00160		0.00	0.04		None None	None None None None	NEFM\|0.180317032\|39%
TRIOBP
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	200567_mutation_report1_filtered	22	.	38120274	0.0	A	C,T	PASS	0/2	251	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				0.23	0.00		None None	None None None None	TRIOBP\|0.083019472\|54.57%
	View	200567_mutation_report1_filtered	22	.	38120126	0.0	C	A,T	PASS	0/2	152	SYNONYMOUS_CODING	LOW	SILENT							None None	None None None None	TRIOBP\|0.083019472\|54.57%
ZFP2
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	200567_mutation_report1_filtered	5	.	178358914	0.0	T	A,C	PASS	0/2	19	SYNONYMOUS_CODING	LOW	SILENT							None None	None None None None	ZFP2\|0.036345748\|66.99%
ZNF184
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	200567_mutation_report1_filtered	6	.	27420012	0.0	C	A,T	PASS	0/2	12	SYNONYMOUS_CODING	LOW	SILENT							None None	None None None None	ZNF184\|0.03297558\|68.17%
ZNF471
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	200567_mutation_report1_filtered	19	.	57037122	0.0	A	C,T	PASS	0/2	19	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				0.01	0.82		None None	None None None None	ZNF471\|0.008898979\|81.75%
ZNF543
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	200567_mutation_report1_filtered	19	rs745792018 dbSNP Clinvar	57840048	0.0	T	A,C	PASS	0/2	22	SYNONYMOUS_CODING	LOW	SILENT							None None	None None None None	ZNF543\|0.00167322\|91.99%
ZNF730
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	200567_mutation_report1_filtered	19	.	23328479	0.0	T	A,G	PASS	0/2	33	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				0.29	0.17		None None	None None None None	ZNF730\|0.0013142\|93.79%
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	200567_mutation_report1_filtered	X	.	124455270	0.0	G	A,C	PASS	0/2	22	None	None	None							None None	None None None None	None

+ Filter Options

FREQUENCIES

SCORES

+ Genes 11

+ Genes associated with diseases 3

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

CDR1

FLG2

HDAC6

MUC17

NEFM

TRIOBP

ZFP2

ZNF184

ZNF471

ZNF543

ZNF730

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