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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 19

Genes:
BTN2A2, C6orf229, C6orf47, C6orf52, CDKAL1, DAXX, DEK, ELOVL5, FAM65B, FARS2, HSP90AB1, IGF2R, LRRC16A, NEDD9, RIPK1, RREB1, SERPINB6, SNX9, TRIM26,

+ Genes associated with diseases 6

Genes at Omim

DEK, ELOVL5, FARS2, IGF2R, RIPK1, SERPINB6,

DEK	Leukemia, acute nonlymphocytic (2)
ELOVL5	Spinocerebellar ataxia 38, 615957 (3)
FARS2	Combined oxidative phosphorylation deficiency 14, 614946 (3) Spastic paraplegia 77, autosomal recessive, 617046 (3)
IGF2R	Hepatocellular carcinoma, somatic, 114550 (3)
RIPK1	Immunodeficiency 57, 618108 (3)
SERPINB6	?Deafness, autosomal recessive 91, 613453 (3)

Genes at Clinical Genomics Database

ELOVL5, FAM65B, FARS2, SERPINB6,

ELOVL5	Spinocerebellar ataxia 39
FAM65B	Deafness, autosomal recessive 104
FARS2	Combined oxidative phosphorylation deficiency 14
SERPINB6	Deafness, autosomal recessive 91

Genes at HGMD

Summary

Number of Variants: 19
Number of Genes: 19

Export to: CSV

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BTN2A2
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	1352s	6	.	26388444	790.92	C	T	PASS	0/1	17	STOP_GAINED	HIGH	NONSENSE							None None	None None None None	BTN2A2\|0.003176243\|88.35%
C6orf229
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	1352s	6	.	24799050	782.14	C	T	PASS	1/1	9	STOP_GAINED	HIGH	NONSENSE							None None	None None None None	FAM65B\|0.070669833\|57.32%
C6orf47
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	1352s	6	.	31626851	16225.9	T	A	PASS	1/1	163	STOP_GAINED	HIGH	NONSENSE							None None	None None None None	C6orf47\|0.057785703\|60.46%
C6orf52
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	1352s	6	.	10687369	589.13	G	A	PASS	0/1	45	STOP_GAINED	HIGH	NONSENSE							None None	None None None None	C6orf52\|0.006386144\|84.2%
CDKAL1
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	1352s	6	.	20955736	437.16	C	T	PASS	0/1	12	STOP_GAINED	HIGH	NONSENSE							None None	None None None None	CDKAL1\|0.850963692\|4.62%
DAXX
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	1352s	6	.	33288694	9622.16	T	C	PASS	0/1	142	STOP_GAINED	HIGH	NONSENSE							None None	None None None None	DAXX\|0.484012387\|16.54%
DEK
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	1352s	6	rs201160399 dbSNP Clinvar	18258285	5069.16	G	A	PASS	0/1	71	STOP_GAINED	HIGH	NONSENSE							None None	None None None None	DEK\|0.839668154\|4.89%
ELOVL5
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	1352s	6	.	53133990	2366.92	G	A	PASS	0/1	40	STOP_GAINED	HIGH	NONSENSE							None None	None None None None	ELOVL5\|0.228608658\|33.49%
FAM65B
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	1352s	6	.	24835933	5313.9	C	A	PASS	1/1	43	STOP_GAINED+SPLICE_SITE_REGION	HIGH	NONSENSE							None None	None None None None	FAM65B\|0.070669833\|57.32%
FARS2
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	1352s	6	.	5545421	4061.9	C	T	PASS	1/1	43	STOP_GAINED	HIGH	NONSENSE							None None	None None None None	FARS2\|0.138076128\|44.7%
HSP90AB1
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	1352s	6	.	44217527	2789.16	T	A	PASS	0/1	106	STOP_GAINED	HIGH	NONSENSE							None None	None None None None	HSP90AB1\|0.395652538\|21.03%
IGF2R
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	1352s	6	.	160482590	2133.9	G	A	PASS	1/1	49	STOP_GAINED	HIGH	NONSENSE							None None	None None None None	IGF2R\|0.085869255\|53.96%
LRRC16A
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	1352s	6	.	25600740	2982.92	G	A	PASS	0/1	87	STOP_GAINED	HIGH	NONSENSE							None None	None None None None	LRRC16A\|0.106228514\|49.94%
NEDD9
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	1352s	6	.	11185898	72.24	T	A	PASS	0/1	5	STOP_GAINED	HIGH	NONSENSE							None None	None None None None	NEDD9\|0.274702468\|29.54%
RIPK1
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	1352s	6	.	3104462	801.16	C	T	PASS	0/1	19	STOP_GAINED	HIGH	NONSENSE							None None	None None None None	RIPK1\|0.094475501\|52.24%
RREB1
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	1352s	6	.	7211851	829.17	C	T	PASS	0/1	31	STOP_GAINED	HIGH	NONSENSE							None None	None None None None	RREB1\|0.126211873\|46.42%
SERPINB6
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	1352s	6	.	2949153	842.92	G	A	PASS	0/1	32	STOP_GAINED	HIGH	NONSENSE							None None	None None None None	SERPINB6\|0.030895679\|69%
SNX9
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	1352s	6	.	158349665	913.95	A	T	PASS	1/1	8	STOP_GAINED	HIGH	NONSENSE							None None	None None None None	SNX9\|0.169505885\|40.37%
TRIM26
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	1352s	6	.	30153683	4527.92	C	T	PASS	0/1	137	STOP_GAINED	HIGH	NONSENSE							None None	None None None None	TRIM26\|0.051837141\|62.11%

+ Filter Options

FREQUENCIES

SCORES

+ Genes 19

+ Genes associated with diseases 6

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

BTN2A2

C6orf229

C6orf47

C6orf52

CDKAL1

DAXX

DEK

ELOVL5

FAM65B

FARS2

HSP90AB1

IGF2R

LRRC16A

NEDD9

RIPK1

RREB1

SERPINB6

SNX9

TRIM26

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