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VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
MUTATION TYPE:	CHR: POS:

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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:
AFAP1L2, AK5, ANKS1A, ANLN, ART5, BAIAP2L2, BPTF, C2orf71, C8orf59, CCDC180, CCDC66, CDC27, CDK11A, CENPV, CNDP1, DDHD1, EOMES, FAM187A, FOXD2, GOLGA6L2, GOLGA8R, GPRIN2, GREB1L, GRIN2C, GXYLT1, HSPBP1, HYDIN, KCNN3, KIAA0040, KRT2, KRT4, KRTAP4-5, KRTAP9-1, LURAP1L, MADCAM1, MAGI1, MCC, MSH3, MUC12, MUC13, MUC3A, MYO5B, NADK, NCOR2, PRDM2, PRKD1, PRUNE2, RALY, RBM23, RBMXL3, RP1L1, RPL14, RSPH6A, RTTN, SAAL1, SEC16B, SERINC2, SGK223, SKIDA1, SSC5D, SYNJ1, TMEM184A, TMEM229A, TSPYL1, VKORC1L1, WWOX, ZNF714, ZNF717,

+ Genes associated with diseases 16

Genes at Omim

ANLN, BPTF, DDHD1, GREB1L, HYDIN, KRT2, KRT4, MCC, MSH3, MYO5B, PRKD1, RP1L1, RTTN, SYNJ1, TSPYL1, WWOX,

ANLN	Focal segmental glomerulosclerosis 8, 616032 (3)
BPTF	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, 617755 (3)
DDHD1	Spastic paraplegia 28, autosomal recessive, 609340 (3)
GREB1L	Renal hypodysplasia/aplasia 3, 617805 (3)
HYDIN	Ciliary dyskinesia, primary, 5, 608647 (3)
KRT2	Ichthyosis bullosa of Siemens, 146800 (3)
KRT4	White sponge nevus 1, 193900 (3)
MCC	Colorectal cancer, somatic, 114500 (3)
MSH3	Endometrial carcinoma, somatic, 608089 (3) Familial adenomatous polyposis 4, 617100 (3)
MYO5B	Microvillus inclusion disease, 251850 (3)
PRKD1	Congenital heart defects and ectodermal dysplasia, 617364 (3)
RP1L1	Occult macular dystrophy, 613587 (3)
RTTN	Microcephaly, short stature, and polymicrogyria with seizures, 614833 (3)
SYNJ1	Epileptic encephalopathy, early infantile, 53, 617389 (3) Parkinson disease 20, early-onset, 615530 (3)
TSPYL1	Sudden infant death with dysgenesis of the testes syndrome, 608800 (3)
WWOX	Epileptic encephalopathy, early infantile, 28, 616211 (3) Esophageal squamous cell carcinoma, somatic, 133239 (3) Spinocerebellar ataxia, autosomal recessive 12, 614322 (3)

Genes at Clinical Genomics Database

ANLN, KRT2, KRT4, MSH3, MYO5B, RP1L1, RTTN, TSPYL1, WWOX,

ANLN	Focal segmental glomerulosclerosis 8
KRT2	Ichthyosis bullosa of Siemens Ichthyosis exfoliativa
KRT4	White sponge nevus 1
MSH3	Endometrial carcinoma
MYO5B	Diarrhea 2, with microvillus atrophy
RP1L1	Occult macular dystrophy Retinitis pigmentosa, autosomal recessive
RTTN	Microcephaly, short stature, and polymicrogyria with or without seizures
TSPYL1	Sudden infant death with dysgenesis of the testes syndrome 46, XY disorder of sex development
WWOX	Epileptic encephalopathy, early infantile, 28 Spinocerebellar ataxia, autosomal recessive 12

Genes at HGMD

Summary

Number of Variants: 74
Number of Genes: 68

Export to: CSV

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AFAP1L2
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	4k20002_01 gatk	10	rs74928179 dbSNP Clinvar	116085784	1987.73	C	CCCG	.	1/1	45	CODON_INSERTION	MODERATE								None None	None None None None	AFAP1L2\|0.092781823\|52.66%
AK5
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	4k20002_01 gatk	1	rs79671213 dbSNP Clinvar	78024345	3850.73	C	CTAT	.	1/1	87	CODON_INSERTION	MODERATE		0.61961	0.61960	0.35982				None None	None None None None	AK5\|0.166834889\|40.71%
ANKS1A
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	4k20002_01 gatk	6	rs71538280 dbSNP Clinvar	34857302	1156.73	G	GG...	.	0/1	60	CODON_INSERTION	MODERATE								None None	None None None None	ANKS1A\|0.453129628\|18.02%
ANLN
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	4k20002_01 gatk	7	.	36447349	430.73	A	ACTT	.	0/1	24	CODON_INSERTION	MODERATE		0.44948		0.38393				None None	None None None None	ANLN\|0.180116375\|39.04%
ART5
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	4k20002_01 gatk	11	rs3062849 dbSNP Clinvar	3661585	1892.73	A	ATGG	.	1/1	43	CODON_INSERTION	MODERATE		0.96745	0.96750	0.03526				None None	None None None None	ART5\|0.101580058\|50.85%
BAIAP2L2
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	4k20002_01 gatk	22	rs749863021 dbSNP Clinvar	38483195	1150.73	T	TG...	.	0/1	69	CODON_INSERTION	MODERATE								None None	None None None None	BAIAP2L2\|0.045525826\|64.05%
BPTF
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	4k20002_01 gatk	17	rs139709271 dbSNP Clinvar	65955758	209.73	T	TC...	.	0/1	18	CODON_INSERTION	MODERATE								None None	None None None None	BPTF\|0.199279409\|36.79%
C2orf71
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	4k20002_01 gatk	2	rs139768554 dbSNP Clinvar	29287926	1169.73	C	CGCT	.	0/1	66	CODON_INSERTION	MODERATE		0.37360	0.37360	0.31822				None None	None None None None	C2orf71\|0.006399925\|84.18%
C8orf59
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	4k20002_01 gatk	8	rs112611553 dbSNP Clinvar	86126827	4084.73	C	CA...	.	1/1	92	CODON_INSERTION	MODERATE		0.99720	0.99720	0.00399				None None	None None None None	E2F5\|0.388960651\|21.48%,C8orf59\|0.106330723\|49.9%
CCDC180
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	4k20002_01 gatk	9	rs113264216,rs71369506 dbSNP Clinvar	100092968	1248.73	A	AG...	.	0/1	62	CODON_INSERTION	MODERATE		0.59145	0.59150					None None	None None None None	CCDC180\|0.009048134\|81.61%