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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

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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:
AC074212.3, AC104667.3, ACIN1, AKAP12, AKAP9, AL445989.1, ALMS1, AR, ASPHD1, ATN1, ATXN7, BCL6B, BRI3BP, C18orf25, C21orf58, C6orf223, C9orf43, CAPNS1, CELSR2, CLEC17A, DCAF8L2, DCP1B, DNHD1, E2F4, EME1, EP400, FADS6, FAM171B, FAM186A, FAM194A, FAM90A1, FERD3L, FMNL1, FMNL2, FOXC1, FRG1B, GDF7, HADHB, HCLS1, HRCT1, HTT, IFI27, IGFBP2, IGFN1, KCNG2, KCNN2, KDM6B, KIF20B, KRTAP10-6, KRTAP5-1, KRTAP5-10, KRTAP5-4, KRTAP5-7, KRTAP5-8, LNP1, LSR, LTF, M6PR, MAGEF1, MANF, MDS2, MMP17, MN1, MUC22, MUC3A, MUC4, NEFH, NR1H2, OR7C2, PCDH12, PCDHA4, PCLO, PHF2, POU4F2, PPM1E, PRDM13, PRICKLE4, PRKCSH, REC8, RTL1, SH3BGR, SLC28A1, SNRPC, SOWAHA, SP5, SP8, SSC5D, STK39, TBP, TCHH, TMEM37, TPRXL, TTLL3, USP40, VEZF1, WDR66, ZNF579, ZNF717, ZNF772, ZNF804A, ZSWIM6,

+ Genes associated with diseases 17

Genes at Omim

AKAP9, ALMS1, AR, ATN1, ATXN7, FOXC1, HADHB, HTT, MN1, NEFH, PCDH12, PCLO, PRKCSH, TBP, TCHH, WDR66, ZSWIM6,

AKAP9	?Long QT syndrome-11, 611820 (3)
ALMS1	Alstrom syndrome, 203800 (3)
AR	Androgen insensitivity, 300068 (3) Androgen insensitivity, partial, with or without breast cancer, 312300 (3) {Prostate cancer, susceptibility to}, 176807 (3) Hypospadias 1, X-linked, 300633 (3) Spinal and bulbar muscular atrophy of Kennedy, 313200 (3)
ATN1	Dentatorubro-pallidoluysian atrophy, 125370 (3)
ATXN7	Spinocerebellar ataxia 7, 164500 (3)
FOXC1	Anterior segment dysgenesis 3, multiple subtypes, 601631 (3) Axenfeld-Rieger syndrome, type 3, 602482 (3)
HADHB	Trifunctional protein deficiency, 609015 (3)
HTT	Huntington disease, 143100 (3) Lopes-Maciel-Rodan syndrome, 617435 (3)
MN1	Meningioma, 607174 (3)
NEFH	Charcot-Marie-Tooth disease, axonal, type 2CC, 616924 (3) ?{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3)
PCDH12	Microcephaly, seizures, spasticity, and brain calcification, 251280 (3)
PCLO	?Pontocerebellar hypoplasia, type 3, 608027 (3)
PRKCSH	Polycystic liver disease 1, 174050 (3)
TBP	{Parkinson disease, susceptibility to}, 168600 (3) Spinocerebellar ataxia 17, 607136 (3)
TCHH	?Uncombable hair syndrome 3, 617252 (3)
WDR66	Spermatogenic failure 33, 618152 (3)
ZSWIM6	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, 617865 (3) Acromelic frontonasal dysostosis, 603671 (3)

Genes at Clinical Genomics Database

AKAP9, ALMS1, AR, ATN1, ATXN7, FOXC1, HADHB, HTT, MN1, NEFH, PRKCSH, TBP, ZSWIM6,

AKAP9	Long QT syndrome 11
ALMS1	Alstrom syndrome
AR	Androgen insensitivity Androgen insensitivity, partial
ATN1	Dentatorubro-pallidoluysian atrophy
ATXN7	Spinocerebellar ataxia 7
FOXC1	Peters anomaly Axenfeld-Rieger syndrome, type 3 Iridogoiodysgenesis, type 1
HADHB	Trifunctional protein deficiency
HTT	Huntington disease
MN1	Meningioma, familial
NEFH	Charcot-Marie-Tooth disease, axonal, type 2CC
PRKCSH	Polycystic liver disease
TBP	Spinocerebellar ataxia 17
ZSWIM6	Acromelic frontonasal dysostosis

Genes at HGMD

Summary

Number of Variants: 109
Number of Genes: 101

Export to: CSV

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AC074212.3
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	combined sample_68.variant29	19	rs139434566 dbSNP Clinvar	46265047	3253.15	A	AT...	PASS	0/1	96	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None							None None	None None None None	None
AC104667.3
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	combined sample_68.variant29	2	rs146534321 dbSNP Clinvar	238499863	730.13	A	AA...	PASS	0/1	38	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.51637	0.51640					None None	None None None None	RAB17\|0.004320407\|86.57%
ACIN1
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	combined sample_68.variant29	14	rs3077646 dbSNP Clinvar	23548783	2866.21	A	AG...	PASS	1/1	154	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.38778	0.38780	0.49976				None None	None None None None	ACIN1\|0.717450786\|8.04%
AKAP12
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	combined sample_68.variant29	6	rs3842128,rs113116275,rs34338625 dbSNP Clinvar	151674116	2481.29	T	TGAG	PASS	1/1	101	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.70387	0.70390	0.22056				None None	None None None None	AKAP12\|0.001631589\|92.22%
AKAP9
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	combined sample_68.variant29	7	rs10644111,rs397825978 dbSNP Clinvar	91652178	3863.54	A	AAAC	PASS	0/1	63	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.42472	0.42470	0.47907				None None	None None None None	AKAP9\|0.267262044\|30.07%
AL445989.1
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	combined sample_68.variant29	13	rs757251234 dbSNP Clinvar	64320959	1221.01	C	CC...	PASS	0/1	42	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None							None None	None None None None	None
ALMS1
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	combined sample_68.variant29	2	rs587621330,rs34628045 dbSNP Clinvar	73675227	2725.07	T	TCTC	PASS	1/1	136	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.60044	0.60040	0.44921				None None	None None None None	ALMS1\|0.012791041\|78.65%
	View	combined sample_68.variant29	2	rs864622738 dbSNP Clinvar	73613031	601.68	TG...	TG...	PASS	0/2	50	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None							None None	None None None None	ALMS1\|0.012791041\|78.65%
AR
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	combined sample_68.variant29	X	.	66765158	827.65	TG...	TG...	PASS	11/11	9	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None							None None	None None None None	AR\|0.999436019\|0.35%
	View	combined sample_68.variant29	X	rs780052930 dbSNP Clinvar	66766356	254.3	TG...	TG...	PASS	1/1	7	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None			0.07586				None None	None None None None	AR\|0.999436019\|0.35%
ASPHD1
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	combined sample_68.variant29	16	rs140411458,rs35784618 dbSNP Clinvar	29912802	5877.95	G	GGGT	PASS	0/1	262	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.20228	0.20230	0.35699				None None	None None None None	ASPHD1\|0.262036934\|30.55%
ATN1
Omim - GeneCards - NCBI