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

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+ Genes 23

Genes:
ADRA2B, ALDH3B1, AP001468.1, BARD1, C19orf33, CACNA1A, CDH23, DMKN, GOLGA6L2, IGLJ2, ITIH5, KCNN2, KIAA1377, KIAA1468, KRTAP4-5, MANEA, MUC3A, NCOR2, RAB36, RAI1, SPI1, TCEAL6, WDR87,

+ Genes associated with diseases 5

Genes at Omim

ADRA2B, BARD1, CACNA1A, CDH23, RAI1,

ADRA2B	Epilepsy, myoclonic, familial adult, 2, 607876 (3)
BARD1	{Breast cancer, susceptibility to}, 114480 (3)
CACNA1A	Epileptic encephalopathy, early infantile, 42, 617106 (3) Episodic ataxia, type 2, 108500 (3) Migraine, familial hemiplegic, 1, 141500 (3) Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 (3) Spinocerebellar ataxia 6, 183086 (3)
CDH23	{Pituitary adenoma 5, multiple types}, 617540 (3) Deafness, autosomal recessive 12, 601386 (3) Usher syndrome, type 1D, 601067 (3) Usher syndrome, type 1D/F digenic, 601067 (3)
RAI1	Smith-Magenis syndrome, 182290 (3)

Genes at Clinical Genomics Database

BARD1, CACNA1A, CDH23, RAI1,

BARD1	Breast cancer, susceptibility to
CACNA1A	Episodic ataxia, type 2 Migraine, familial hemiplegic 1
CDH23	Deafness, autosomal recessive 12 Usher syndrome, type 1D Usher syndrome, type 1D /F digenic
RAI1	Smith-Magenis syndrome

Genes at HGMD

Summary

Number of Variants: 825
Number of Genes: 23

Export to: CSV

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ADRA2B
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	final-ma145	2	rs34667759,rs28365031,rs29000568 dbSNP Clinvar	96780986	2263.73	C	CT...	VQSRTrancheINDEL96.00to97.00	0/1	144	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.24860	0.47060	0.29666				None None	None None None None	ADRA2B\|0.088340463\|53.59%
ALDH3B1
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	final-ma145	11	rs58160034,rs397695802 dbSNP Clinvar	67789293	7269.73	G	GC	VQSRTrancheINDEL96.00to97.00	1/1	196	FRAME_SHIFT+SPLICE_SITE_REGION	HIGH	None	0.00280	0.99720	0.00024				None None	None None None None	ALDH3B1\|0.033093329\|68.12%
AP001468.1
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	final-ma145	21	rs146297977 dbSNP Clinvar	47612512	6885.73	C	CTG	VQSRTrancheINDEL96.00to97.00	1/1	150	FRAME_SHIFT	HIGH	None	0.72105	0.72100					None None	None None None None	LSS\|0.346361251\|24.39%
BARD1
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	final-ma145	2	rs28997575,rs587781282 dbSNP Clinvar	215645502	5065.73	GT...	G	VQSRTrancheINDEL96.00to97.00	0/1	323	CODON_DELETION	MODERATE	None	0.04473	0.04473					None None	None None None None	BARD1\|0.230178617\|33.35%
C19orf33
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	final-ma145	19	rs139805446 dbSNP Clinvar	38795546	970.73	TGAA	T	VQSRTrancheINDEL96.00to97.00	0/1	75	CODON_DELETION	MODERATE	None	0.15395	0.15400	0.13221				None None	None None None None	C19orf33\|0.001107009\|94.9%
CACNA1A
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	final-ma145	19	rs16054 dbSNP Clinvar	13318672	232.8	CC...	C	VQSRTrancheINDEL96.00to97.00	1/1	6	CODON_DELETION	MODERATE	None							None None	None None None None	CACNA1A\|0.210424701\|35.52%
CDH23
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	final-ma145	10	rs71012280 dbSNP Clinvar	73157033	761.73	C	CC...	VQSRTrancheINDEL96.00to97.00	0/1	24	None	None	None		0.27540					None None	None None None None	CDH23\|0.499757104\|15.83%
DMKN
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	final-ma145	19	rs760401945 dbSNP Clinvar	36002370	750.73	AC...	A	VQSRTrancheINDEL96.00to97.00	0/1	43	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None							None None	None None None None	DMKN\|0.003521347\|87.74%
GOLGA6L2
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	final-ma145	15	rs755581689 dbSNP Clinvar	23686228	344.73	G	GT...	VQSRTrancheINDEL96.00to97.00	0/1	15	CODON_INSERTION	MODERATE	None							None None	None None None None	GOLGA6L2\|0.000844228\|96.42%
IGLJ2
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	final-ma145	22	rs202036213 dbSNP Clinvar	23241753	6020.73	T	TA	VQSRTrancheINDEL96.00to97.00	1/1	154	FRAME_SHIFT	HIGH	None							None None	None None None None	None
ITIH5
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	final-ma145	10	rs201992976,rs377582767 dbSNP Clinvar	7601809	117.73	TT...	T	VQSRTrancheINDEL96.00to97.00	0/1	15	None	None	None							None None	None None None None	ITIH5\|0.026992759\|70.89%
KCNN2
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	final-ma145	5	rs151038013 dbSNP Clinvar	113698631	1771.73	T	TGCC	VQSRTrancheINDEL96.00to97.00	0/1	85	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None			0.35385				None None	None None None None	KCNN2\|0.504056199\|15.63%
KIAA1377
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	final-ma145	11	rs529950842 dbSNP Clinvar	101833266	1950.73	TAAA	T	VQSRTrancheINDEL96.00to97.00	0/1	96	CODON_DELETION	MODERATE	None	0.00379	0.00379	0.00496				None None	None None None None	CEP126\|0.022563713\|72.89%
KIAA1468
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	final-ma145	18	rs369130664 dbSNP Clinvar	59942746	93.73	A	AT	VQSRTrancheINDEL96.00to97.00	0/1	17	None	None	None							None None	None None None None	KIAA1468\|0.467952435\|17.28%
KRTAP4-5
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	final-ma145	17	rs535144703,rs878860917,rs58117746 dbSNP Clinvar	39305775	2200.73	T	TG...	VQSRTrancheINDEL96.00to97.00	1/1	45	CODON_INSERTION	MODERATE	None	0.42312	0.42310					None None	None None None None	KRTAP4-5\|0.004149252\|86.8%
MANEA
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	final-ma145	6	.	96034881	454.73	A	ATATG	VQSRTrancheINDEL96.00to97.00	0/1	32	None	None	None	0.00080						None None	None None None None	MANEA\|0.310030368\|26.83%
MUC3A
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	final-ma145	7	rs111723000,rs374888812 dbSNP Clinvar	100550032	5758.73	C	CCCT	VQSRTrancheINDEL96.00to97.00	0/1	380	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None							None None	None None None None	MUC3A\|0.001683398\|91.94%
NCOR2
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	final-ma145	12	.	124887058	208.73	G	GG...	VQSRTrancheINDEL96.00to97.00	0/1	18	CODON_INSERTION	MODERATE	None							None None	None None None None	NCOR2\|0.460506037\|17.66%
RAB36
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	final-ma145	22	rs773014045,rs55675235 dbSNP Clinvar	23498327	417.73	T	TC...	VQSRTrancheINDEL96.00to97.00	0/1	28	None	None	None							None None	None None None None	RAB36\|0.022182246\|73.09%
RAI1
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	final-ma145	17	rs35068024 dbSNP Clinvar	17697098	758.73	AGC	A	VQSRTrancheINDEL96.00to97.00	0/1	65	FRAME_SHIFT	HIGH	None							None None	None None None None	RAI1\|0.119478135\|47.54%
	View	final-ma145	17	rs34083643 dbSNP Clinvar	17697101	758.73	AG	A	VQSRTrancheINDEL96.00to97.00	0/1	66	FRAME_SHIFT	HIGH	None							None None	None None None None	RAI1\|0.119478135\|47.54%
SPI1
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	final-ma145	11	rs528033493,rs775568196,rs35282035,rs397726235 dbSNP Clinvar	47380276	1185.73	G	GCA	VQSRTrancheINDEL96.00to97.00	0/1	58	None	None	None	0.23742	0.23740					None None	None None None None	SPI1\|0.446158784\|18.35%
TCEAL6
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	final-ma145	X	rs200987681,rs377261254 dbSNP Clinvar	101395780	949.97	T	TG	VQSRTrancheINDEL96.00to97.00	1	29	FRAME_SHIFT	HIGH	None	1.00000	1.00000	0.02317				None None	None None None None	TCEAL6\|0.001648357\|92.13%
WDR87
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	final-ma145	19	rs763153590 dbSNP Clinvar	38377391	654.73	TC...	T	VQSRTrancheINDEL96.00to97.00	0/1	42	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None			0.46741				None None	None None None None	WDR87\|0.001537054\|92.59%
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	final-ma145	1	rs758939571,rs376512771 dbSNP Clinvar	109856842	253.73	T	TG	VQSRTrancheINDEL96.00to97.00	0/1	54	None	None	None							None None	None None None None	SORT1\|0.521925394\|14.9%
	View	final-ma145	1	rs68036474,rs569033021,rs397981383 dbSNP Clinvar	115238016	159.82	CA	C	VQSRTrancheINDEL96.00to97.00	1/1	9	None	None	None		0.53830					None None	None None None None	AMPD1\|0.217023192\|34.75%
	View	final-ma145	1	rs67607610,rs782427646 dbSNP Clinvar	144823605	70.25	C	CTG	VQSRTrancheINDEL96.00to97.00	1/1	3	None	None	None							None None	None None None None	NBPF9\|0.001397166\|93.36%
	View	final-ma145	1	rs10630012,rs80102014 dbSNP Clinvar	144894137	98.25	A	ACT	VQSRTrancheINDEL96.00to97.00	1/1	3	None	None	None	0.48562	0.48560					None None	None None None None	PDE4DIP\|0.07469644\|56.36%
	View	final-ma145	1	rs11285412,rs879050409,rs567623868 dbSNP Clinvar	218610662	53.7	CT	C	VQSRTrancheINDEL96.00to97.00	0/1	6	None	None	None		0.47420					None None	None None None None	TGFB2\|0.990038184\|1.09%
	View	final-ma145	1	rs60707856 dbSNP Clinvar	183155715	376.73	CT	C	VQSRTrancheINDEL96.00to97.00	0/1	27	None	None	None	0.61202	0.61200					None None	None None None None	LAMC2\|0.157780221\|41.89%
	View	final-ma145	1	rs57129092 dbSNP Clinvar	198248340	40.73	T	TA...	VQSRTrancheINDEL96.00to97.00	0/1	4	None	None	None							None None	None None None None	NEK7\|0.499743492\|15.83%
	View	final-ma145	1	rs147715627,rs71147739 dbSNP Clinvar	205328043	53.7	T	TT...	VQSRTrancheINDEL96.00to97.00	1/1	2	None	None	None	0.69529	0.69530					None None	None None None None	None
	View	final-ma145	1	rs55659105 dbSNP Clinvar	211033457	1261.73	TG	T	VQSRTrancheINDEL96.00to97.00	1/1	29	None	None	None	1.00000	1.00000					None None	None None None None	KCNH1\|0.372823815\|22.54%
	View	final-ma145	1	rs71572869 dbSNP Clinvar	224090172	30.71	TTG	T	VQSRTrancheINDEL96.00to97.00	1/1	2	None	None	None							None None	None None None None	None
	View	final-ma145	1	rs767442592 dbSNP Clinvar	245598432	40.73	CC...	C	VQSRTrancheINDEL96.00to97.00	0/1	4	None	None	None							None None	None None None None	KIF26B\|0.252898287\|31.3%
	View	final-ma145	1	.	245775405	39.73	TGTGA	T	VQSRTrancheINDEL96.00to97.00	0/1	10	None	None	None							None None	None None None None	KIF26B\|0.252898287\|31.3%
	View	final-ma145	1	rs72504939 dbSNP Clinvar	248599712	31.71	T	TAG	VQSRTrancheINDEL96.00to97.00	1/1	2	None	None	None	0.51478	0.51480					None None	None None None None	None
	View	final-ma145	1	rs3033476 dbSNP Clinvar	248814265	291.75	GAAC	G	VQSRTrancheINDEL96.00to97.00	1/1	8	None	None	None	0.72264	0.72260					None None	None None None None	None
	View	final-ma145	2	rs3215297 dbSNP Clinvar	676478	4670.73	T	TGTAA	VQSRTrancheINDEL96.00to97.00	1/1	93	None	None	None	0.79333	0.79330					None None	None None None None	TMEM18\|0.011278558\|79.82%
	View	final-ma145	2	rs143770934 dbSNP Clinvar	10933346	882.73	T	TAGGC	VQSRTrancheINDEL96.00to97.00	0/1	53	None	None	None	0.28215	0.28210	0.23075				None None	None None None None	PDIA6\|0.183461028\|38.6%
	View	final-ma145	2	rs376216284 dbSNP Clinvar	91694606	53.7	CGTGT	C	VQSRTrancheINDEL96.00to97.00	1/1	2	None	None	None							None None	None None None None	None
	View	final-ma145	2	rs72536103,rs398104377 dbSNP Clinvar	65495573	1612.73	A	AC	VQSRTrancheINDEL96.00to97.00	1/1	37	None	None	None	0.81130	0.81130					None None	None None None None	ACTR2\|0.689557434\|8.79%
	View	final-ma145	2	rs143078935 dbSNP Clinvar	74128666	249.73	TG...	T	VQSRTrancheINDEL96.00to97.00	0/1	17	None	None	None	0.67272	0.67270					None None	None None None None	ACTG2\|0.370515143\|22.67%
	View	final-ma145	2	rs11417458,rs397821816 dbSNP Clinvar	97749246	97.0	T	TC	VQSRTrancheINDEL96.00to97.00	1/1	4	None	None	None	1.00000	1.00000					None None	None None None None	None
	View	final-ma145	2	rs33971912,rs397774860 dbSNP Clinvar	97817564	944.77	C	CT	VQSRTrancheINDEL96.00to97.00	1/1	27	None	None	None	1.00000	1.00000	0.00383				None None	None None None None	ANKRD36\|0.001192347\|94.46%
	View	final-ma145	2	.	97909803	53.7	CTT	C	VQSRTrancheINDEL96.00to97.00	1/1	2	None	None	None							None None	None None None None	ANKRD36\|0.001192347\|94.46%
	View	final-ma145	2	rs201199777 dbSNP Clinvar	108715088	53.7	TA...	T	VQSRTrancheINDEL96.00to97.00	1/1	2	None	None	None							None None	None None None None	None
	View	final-ma145	2	rs61173720,rs796603088 dbSNP Clinvar	109328638	159.74	TA	T	VQSRTrancheINDEL96.00to97.00	0/1	10	None	None	None	0.30871	0.30870					None None	None None None None	None
	View	final-ma145	2	rs113497784,rs70994755 dbSNP Clinvar	132109433	53.7	T	TTTTC	VQSRTrancheINDEL96.00to97.00	1/1	2	None	None	None	0.77097	0.77100					None None	None None None None	PLEKHB2\|0.091599144\|52.9%
	View	final-ma145	2	rs35401824,rs70994767 dbSNP Clinvar	132202149	412.74	G	GCTGT	VQSRTrancheINDEL96.00to97.00	1/1	9	None	None	None	0.29812	0.29810					None None	None None None None	None
	View	final-ma145	2	rs35214066 dbSNP Clinvar	132428878	44.7	C	CT	VQSRTrancheINDEL96.00to97.00	1/1	2	None	None	None	0.96326	0.96330					None None	None None None None	None
	View	final-ma145	2	rs34744196,rs397872816 dbSNP Clinvar	136690414	170.74	TA	T	VQSRTrancheINDEL96.00to97.00	1/1	8	None	None	None	0.66114	0.66110					None None	None None None None	DARS\|0.817904855\|5.36%
	View	final-ma145	2	rs200480786,rs78592009 dbSNP Clinvar	162274607	70.73	AT...	A	VQSRTrancheINDEL96.00to97.00	0/1	9	None	None	None							None None	None None None None	TBR1\|0.920406814\|2.97%
	View	final-ma145	2	rs3830644,rs549877880,rs112255225 dbSNP Clinvar	233271697	1211.8	T	TAC	VQSRTrancheINDEL96.00to97.00	1/1	39	None	None	None		0.10740					None None	None None None None	ALPPL2\|0.999048499\|0.4%
	View	final-ma145	2	rs145448484,rs776424193,rs59050648 dbSNP Clinvar	192263994	53.7	GG...	G	VQSRTrancheINDEL96.00to97.00	1/1	2	None	None	None							None None	None None None None	MYO1B\|0.346998521\|24.36%
	View	final-ma145	2	rs34788166,rs397971039 dbSNP Clinvar	203748544	383.73	A	AT	VQSRTrancheINDEL96.00to97.00	1/1	15	None	None	None	0.00339	0.88540					None None	None None None None	WDR12\|0.769967473\|6.57%
	View	final-ma145	2	rs776904768 dbSNP Clinvar	203807441	303.73	AT	A	VQSRTrancheINDEL96.00to97.00	0/1	29	None	None	None			0.03837				None None	None None None None	WDR12\|0.769967473\|6.57%,CARF\|0.136478532\|44.93%
	View	final-ma145	2	rs200113624 dbSNP Clinvar	204499224	170.94	TAATA	T	VQSRTrancheINDEL96.00to97.00	0/1	7	None	None	None							None None	None None None None	None
	View	final-ma145	2	rs3217007,rs397722876 dbSNP Clinvar	242289663	1212.73	C	CATT	VQSRTrancheINDEL96.00to97.00	1/1	28	None	None	None	0.76757						None None	None None None None	SEPT2\|0.221974831\|34.21%
	View	final-ma145	3	rs78782479 dbSNP Clinvar	5335277	40.73	ACTGG	A	VQSRTrancheINDEL96.00to97.00	0/1	4	None	None	None	0.02236	0.02236					None None	None None None None	None
	View	final-ma145	3	rs113040842 dbSNP Clinvar	89682143	40.73	C	CTCAA	VQSRTrancheINDEL96.00to97.00	0/1	4	None	None	None	0.13399	0.13400					None None	None None None None	None
	View	final-ma145	3	rs879035240 dbSNP Clinvar	123332875	226.79	G	GT	VQSRTrancheINDEL96.00to97.00	0/1	17	None	None	None							None None	None None None None	MYLK\|0.503223171\|15.7%
	View	final-ma145	3	rs113986045,rs3830602 dbSNP Clinvar	135742057	262.73	G	GT...	VQSRTrancheINDEL96.00to97.00	0/1	18	None	None	None	0.16673	0.16670					None None	None None None None	PPP2R3A\|0.355817254\|23.75%
	View	final-ma145	3	rs34425057,rs879032781,rs771526832,rs397991480 dbSNP Clinvar	158787632	93.87	TTG	T	VQSRTrancheINDEL96.00to97.00	1/1	5	None	None	None							None None	None None None None	IQCJ-SCHIP1\|0.566606228\|13.12%,IQCJ\|0.034953162\|67.49%
	View	final-ma145	3	rs879686846 dbSNP Clinvar	195733477	53.7	ACG	A	VQSRTrancheINDEL96.00to97.00	1/1	2	None	None	None							None None	None None None None	None
	View	final-ma145	3	rs762713351,rs779592097 dbSNP Clinvar	188242677	165.79	TT...	T	VQSRTrancheINDEL96.00to97.00	0/1	6	None	None	None							None None	None None None None	LPP\|0.866185415\|4.34%
	View	final-ma145	3	rs113681515,rs4011920 dbSNP Clinvar	187419661	1017.73	G	GC...	VQSRTrancheINDEL96.00to97.00	1/1	19	None	None	None	0.93351	0.93350					None None	None None None None	RTP2\|0.112529571\|48.76%
	View	final-ma145	3	rs36028600 dbSNP Clinvar	194390869	1638.73	G	GA	VQSRTrancheINDEL96.00to97.00	1/1	54	None	None	None	0.00080	0.66710	0.37544				None None	None None None None	LSG1\|0.052660927\|61.87%
	View	final-ma145	4	rs35404202 dbSNP Clinvar	25741924	44.7	C	CA	VQSRTrancheINDEL96.00to97.00	1/1	2	None	None	None	0.72824	0.72820					None None	None None None None	None
	View	final-ma145	4	rs35491457,rs397881253 dbSNP Clinvar	26065864	32.71	CG	C	VQSRTrancheINDEL96.00to97.00	1/1	2	None	None	None	0.32668	0.32670					None None	None None None None	None
	View	final-ma145	4	rs367918481 dbSNP Clinvar	57871750	267.73	T	TTC	VQSRTrancheINDEL96.00to97.00	0/1	11	None	None	None	0.17851	0.17850	0.43604				None None	None None None None	POLR2B\|0.866806985\|4.32%
	View	final-ma145	4	rs34555179 dbSNP Clinvar	70407926	33.71	TC	T	VQSRTrancheINDEL96.00to97.00	1/1	2	None	None	None	0.99860	0.99860					None None	None None None None	None
	View	final-ma145	4	.	71087584	44.7	AT	A	VQSRTrancheINDEL96.00to97.00	1/1	2	None	None	None	0.26637						None None	None None None None	None
	View	final-ma145	4	.	112304373	53.7	AAAAC	A	VQSRTrancheINDEL96.00to97.00	1/1	2	None	None	None							None None	None None None None	None
	View	final-ma145	4	rs113648256,rs70943097 dbSNP Clinvar	178887795	669.73	T	TTTTC	VQSRTrancheINDEL96.00to97.00	0/1	19	None	None	None	0.95088	0.95090	0.25126				None None	None None None None	None
	View	final-ma145	4	rs60812626,rs796727143 dbSNP Clinvar	170623928	451.8	CA...	C	VQSRTrancheINDEL96.00to97.00	0/1	13	None	None	None	0.98043	0.98040					None None	None None None None	CLCN3\|0.317818804\|26.24%
	View	final-ma145	4	rs545894043,rs34825796,rs398108455 dbSNP Clinvar	186112369	82.73	G	GA	VQSRTrancheINDEL96.00to97.00	0/1	17	None	None	None	0.53295	0.53290					None None	None None None None	CFAP97\|0.021605252\|73.39%
	View	final-ma145	4	rs146805759 dbSNP Clinvar	190550663	98.25	C	CG	VQSRTrancheINDEL96.00to97.00	1/1	3	None	None	None							None None	None None None None	None
	View	final-ma145	5	rs142820874,rs60289059 dbSNP Clinvar	3270897	53.7	G	GT...	VQSRTrancheINDEL96.00to97.00	1/1	2	None	None	None	0.97324	0.97320					None None	None None None None	None
	View	final-ma145	5	rs762891890 dbSNP Clinvar	3446877	40.73	AG...	A	VQSRTrancheINDEL96.00to97.00	0/1	4	None	None	None							None None	None None None None	None
	View	final-ma145	5	rs34528234,rs70940746 dbSNP Clinvar	7530722	96.25	GAT	G	VQSRTrancheINDEL96.00to97.00	1/1	3	None	None	None	0.43990	0.43990					None None	None None None None	ADCY2\|0.904669113\|3.35%
	View	final-ma145	5	rs139489826 dbSNP Clinvar	62925364	38.7	CA	C	VQSRTrancheINDEL96.00to97.00	1/1	2	None	None	None	0.30831	0.30830					None None	None None None None	None
	View	final-ma145	5	rs537939603,rs59301311,rs369193500 dbSNP Clinvar	79378447	273.73	T	TC	VQSRTrancheINDEL96.00to97.00	0/1	28	None	None	None							None None	None None None None	THBS4\|0.199305179\|36.79%
	View	final-ma145	5	rs373455781,rs56660854 dbSNP Clinvar	88018388	266.73	GA	G	VQSRTrancheINDEL96.00to97.00	0/1	31	None	None	None							None None	None None None None	MEF2C\|0.99976612\|0.26%
	View	final-ma145	5	rs374638812 dbSNP Clinvar	122359840	682.73	CG...	C	VQSRTrancheINDEL96.00to97.00	1/1	16	None	None	None							None None	None None None None	SNX24\|0.577823246\|12.68%,PPIC\|0.174152283\|39.77%
	View	final-ma145	5	.	132684987	52.7	C	CT...	VQSRTrancheINDEL96.00to97.00	1/1	2	None	None	None							None None	None None None None	FSTL4\|0.091818612\|52.85%
	View	final-ma145	5	rs536791152,rs143962660 dbSNP Clinvar	156640563	34.73	C	CT	VQSRTrancheINDEL96.00to97.00	0/1	14	None	None	None	0.33906	0.33910					None None	None None None None	ITK\|0.331314188\|25.39%
	View	final-ma145	6	.	1054140	40.73	TA	T	VQSRTrancheINDEL96.00to97.00	0/1	4	None	None	None							None None	None None None None	None
	View	final-ma145	6	.	1054142	40.73	GC...	G	VQSRTrancheINDEL96.00to97.00	0/1	4	None	None	None							None None	None None None None	None
	View	final-ma145	6	rs34165095,rs796230457 dbSNP Clinvar	7339149	187.8	GT	G	VQSRTrancheINDEL96.00to97.00	1/1	6	None	None	None	0.58746	0.58750					None None	None None None None	SSR1\|0.292481212\|28.18%,CAGE1\|0.006487413\|84.08%
	View	final-ma145	6	rs376131825,rs70982197 dbSNP Clinvar	8623295	40.73	T	TAC	VQSRTrancheINDEL96.00to97.00	0/1	4	None	None	None							None None	None None None None	None
	View	final-ma145	6	.	8623299	40.73	TAGAG	T	VQSRTrancheINDEL96.00to97.00	0/1	4	None	None	None							None None	None None None None	None
	View	final-ma145	6	rs72205632,rs66524979 dbSNP Clinvar	24828566	1972.73	CCATT	C,...	VQSRTrancheINDEL96.00to97.00	1/2	55	None	None	None	0.17472	0.17470	0.48211				None None	None None None None	FAM65B\|0.070669833\|57.32%
	View	final-ma145	6	.	34039389	53.7	CCCAT	C	VQSRTrancheINDEL96.00to97.00	1/1	2	None	None	None							None None	None None None None	GRM4\|0.176742609\|39.44%
	View	final-ma145	6	.	34138958	32.71	G	GAA	VQSRTrancheINDEL96.00to97.00	1/1	2	None	None	None							None None	None None None None	None
	View	final-ma145	6	.	34138960	32.71	G	GG...	VQSRTrancheINDEL96.00to97.00	1/1	2	None	None	None							None None	None None None None	None
	View	final-ma145	6	rs36085827,rs397705364 dbSNP Clinvar	75893457	190.75	TA	T	VQSRTrancheINDEL96.00to97.00	1/1	8	None	None	None	0.00120	0.83830					None None	None None None None	COL12A1\|0.494206072\|16.13%
	View	final-ma145	6	rs753622080 dbSNP Clinvar	143382254	2237.73	CG...	C,...	VQSRTrancheINDEL96.00to97.00	1/2	75	None	None	None							None None	None None None None	AIG1\|0.320528247\|26.11%
	View	final-ma145	6	rs66961117 dbSNP Clinvar	139598061	257.73	TA	T	VQSRTrancheINDEL96.00to97.00	0/1	16	None	None	None	0.42652	0.42650	0.45635				None None	None None None None	TXLNB\|0.018967473\|74.69%
	View	final-ma145	6	rs768112648 dbSNP Clinvar	144104468	82.73	TA	T	VQSRTrancheINDEL96.00to97.00	0/1	9	None	None	None							None None	None None None None	PHACTR2\|0.218717729\|34.5%

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FREQUENCIES

SCORES

+ Genes 23

+ Genes associated with diseases 5

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

ADRA2B

ALDH3B1

AP001468.1

BARD1

C19orf33

CACNA1A

CDH23

DMKN

GOLGA6L2

IGLJ2

ITIH5

KCNN2

KIAA1377

KIAA1468

KRTAP4-5

MANEA

MUC3A

NCOR2

RAB36

RAI1

SPI1

TCEAL6

WDR87

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