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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

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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:
ADRA2B, AKAP9, ALMS1, BCL6B, C18orf25, C21orf58, CELSR2, DCP1B, DNHD1, EME1, EPHB6, FAM171B, FOXC1, FZD1, HADHB, HAVCR1, IFI27, KCNN2, KIAA1211, KIF20B, LCE4A, LNP1, LSR, LTF, MAGEF1, MAST4, MFAP4, NR1H2, NUMBL, OR7C2, OXA1L, PALM2-AKAP2, PCDH12, PCGF6, PCLO, PHF2, POU4F2, PPM1E, REC8, SCARF1, SH3BGR, TMEM37, TOX2, UQCRC1, ZBTB33,

+ Genes associated with diseases 7

Genes at Omim

ADRA2B, AKAP9, ALMS1, FOXC1, HADHB, PCDH12, PCLO,

ADRA2B	Epilepsy, myoclonic, familial adult, 2, 607876 (3)
AKAP9	?Long QT syndrome-11, 611820 (3)
ALMS1	Alstrom syndrome, 203800 (3)
FOXC1	Anterior segment dysgenesis 3, multiple subtypes, 601631 (3) Axenfeld-Rieger syndrome, type 3, 602482 (3)
HADHB	Trifunctional protein deficiency, 609015 (3)
PCDH12	Microcephaly, seizures, spasticity, and brain calcification, 251280 (3)
PCLO	?Pontocerebellar hypoplasia, type 3, 608027 (3)

Genes at Clinical Genomics Database

AKAP9, ALMS1, FOXC1, HADHB,

AKAP9	Long QT syndrome 11
ALMS1	Alstrom syndrome
FOXC1	Peters anomaly Axenfeld-Rieger syndrome, type 3 Iridogoiodysgenesis, type 1
HADHB	Trifunctional protein deficiency

Genes at HGMD

Summary

Number of Variants: 45
Number of Genes: 45

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	fam3 AWJ	2	rs34667759,rs28365031,rs29000568 dbSNP Clinvar	96780986	283.9	C	CT...	PASS	0/1	111	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.24860	0.47060	0.29666				None None	None None None None	ADRA2B\|0.088340463\|53.59%
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	fam3 AWJ	7	rs10644111,rs397825978 dbSNP Clinvar	91652178	137.43	A	AAAC	PASS	0/1	52	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.42472	0.42470	0.47907				None None	None None None None	AKAP9\|0.267262044\|30.07%
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	fam3 AWJ	2	rs587621330,rs34628045 dbSNP Clinvar	73675227	394.23	T	TCTC	PASS	1/1	43	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.60044	0.60040	0.44921				None None	None None None None	ALMS1\|0.012791041\|78.65%
BCL6B
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	fam3 AWJ	17	rs146207245,rs72254884 dbSNP Clinvar	6928019	903.82	C	CCAG	PASS	0/1	101	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.66234	0.66230					None None	None None None None	BCL6B\|0.213572706\|35.16%
C18orf25
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	fam3 AWJ	18	rs34068795,rs397790301 dbSNP Clinvar	43833701	2152.41	T	TCTG	PASS	1/1	247	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.69269	0.69270					None None	None None None None	C18orf25\|0.503978181\|15.65%
C21orf58
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	fam3 AWJ	21	rs71318063,rs759135936,rs112899928,rs35902237 dbSNP Clinvar	47721985	47.56	A	ATGG	PASS	0/1	55	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.27596	0.27600					None None	None None None None	C21orf58\|0.001829013\|91.47%
CELSR2
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	fam3 AWJ	1	rs144034706,rs59201433 dbSNP Clinvar	109792735	148.74	A	ACGC	PASS	0/1	8	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.56829	0.56830	0.37763				None None	None None None None	CELSR2\|0.181244223\|38.88%
DCP1B
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	fam3 AWJ	12	rs149912567,rs749249960,rs111543431,rs71057810 dbSNP Clinvar	2062323	141.31	T	TTGC	PASS	0/1	84	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None							None None	None None None None	DCP1B\|0.012911973\|78.55%
DNHD1
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	fam3 AWJ	11	.	6567895	479.78	C	CT...	PASS	0/1	69	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.99421		0.06595				None None	None None None None	DNHD1\|0.019835865\|74.26%
EME1
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	fam3 AWJ	17	rs558756129,rs36080231,rs3060668 dbSNP Clinvar	48452978	106.89	A	AAGC	PASS	0/1	85	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.44589	0.44590	0.45662				None None	None None None None	EME1\|0.046021007\|63.91%,LRRC59\|0.084985608\|54.21%
EPHB6
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	fam3 AWJ	7	rs143667567 dbSNP Clinvar	142562051	103.26	C	CC...	PASS	1/1	31	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.12640	0.07808					None None	None None None None	EPHB6\|0.088181957\|53.61%
FAM171B
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	fam3 AWJ	2	rs144403657,rs71017336 dbSNP Clinvar	187559047	309.61	G	GCAA	PASS	1/1	61	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.51957	0.51960					None None	None None None None	FAM171B\|0.143209943\|43.96%
FOXC1
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	fam3 AWJ	6	rs572346201,rs398123612 dbSNP Clinvar	1612017	152.14	A	ACGG	PASS	0/1	40	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None							None None	None None None None	FOXC1\|0.68260094\|9.01%
FZD1
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	fam3 AWJ	7	rs139480179,rs71292991 dbSNP Clinvar	90894459	21.9	A	ACCG	PASS	0/1	13	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.37420	0.37420	0.38935				None None	None None None None	FZD1\|0.727470296\|7.75%
HADHB
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	fam3 AWJ	2	rs3839049,rs59947000 dbSNP Clinvar	26477125	419.88	G	GACT	PASS	1/1	44	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.70947	0.70950	0.08686				None None	None None None None	HADHB\|0.207953227\|35.81%
HAVCR1
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	fam3 AWJ	5	rs139041445,rs10068551,rs77147640 dbSNP Clinvar	156479568	1323.23	C	CG...	PASS	0/1	141	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.01398	0.33050					None None	None None None None	HAVCR1\|0.00064813\|97.55%
IFI27
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	fam3 AWJ	14	rs3833507 dbSNP Clinvar	94582130	356.79	T	TG...	PASS	0/1	158	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.65775	0.65770	0.34781				None None	None None None None	IFI27\|0.001693986\|91.92%
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	fam3 AWJ	5	rs151038013 dbSNP Clinvar	113698631	175.03	T	TGCC	PASS	0/1	106	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None			0.35385				None None	None None None None	KCNN2\|0.504056199\|15.63%
KIAA1211
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	fam3 AWJ	4	rs138358443 dbSNP Clinvar	57180576	47.85	C	CG...	PASS	0/1	143	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.26957	0.26960	0.30504				None None	None None None None	KIAA1211\|0.006705951\|83.84%
KIF20B
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	fam3 AWJ	10	rs144593231,rs55921521 dbSNP Clinvar	91497902	50.08	C	CT...	PASS	0/1	36	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.35663	0.35660	0.30275				None None	None None None None	KIF20B\|0.15949723\|41.64%
LCE4A
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	fam3 AWJ	1	rs6143428 dbSNP Clinvar	152681680	197.62	C	CA...	PASS	0/1	51	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.00080	0.80050					None None	None None None None	LCE4A\|0.003799402\|87.31%
LNP1
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	fam3 AWJ	3	rs71132521 dbSNP Clinvar	100170600	12.0	A	AT...	PASS	0/1	149	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None							None None	None None None None	LNP1\|0.019558518\|74.41%
LSR
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	fam3 AWJ	19	rs142507475,rs397751431 dbSNP Clinvar	35758275	2330.3	G	GGGA	PASS	0/1	332	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None			0.32073				None None	None None None None	LSR\|0.042036693\|65.11%
LTF
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	fam3 AWJ	3	rs10662431,rs55665884 dbSNP Clinvar	46501284	1540.18	C	CCTT	PASS	1/1	133	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.99042	0.99040	0.02045				None None	None None None None	LTF\|0.008447646\|82.21%
MAGEF1
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	fam3 AWJ	3	rs34995413,rs112819846,rs397720350 dbSNP Clinvar	184429133	355.77	A	ATCC	PASS	0/1	332	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None							None None	None None None None	MAGEF1\|0.006287467\|84.31%
MAST4
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	fam3 AWJ	5	rs200514960 dbSNP Clinvar	65892767	38.35	T	TGCC	PASS	1/1	6	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None			0.16052				None None	None None None None	MAST4\|0.51813717\|15.06%
MFAP4
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	fam3 AWJ	17	rs536562220 dbSNP Clinvar	19290122	415.84	A	AAGC	PASS	0/1	207	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.00180	0.00180	0.00782				None None	None None None None	MFAP4\|0.096988299\|51.73%
NR1H2
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	fam3 AWJ	19	rs55652650,rs57917904,rs397738863 dbSNP Clinvar	50881820	196.62	A	AAAC	PASS	0/1	143	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.54812	0.54810	0.20921				None None	None None None None	NR1H2\|0.484472054\|16.53%
NUMBL
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	fam3 AWJ	19	rs749669311 dbSNP Clinvar	41173898	50.0	T	TT...	PASS	0/1	139	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.57029	0.57030					None None	None None None None	NUMBL\|0.139631884\|44.46%
OR7C2
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	fam3 AWJ	19	rs3044711,rs397816267 dbSNP Clinvar	15052983	863.42	T	TATC	PASS	0/1	97	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.99381	0.99380	0.01166				None None	None None None None	OR7C2\|0.001466113\|92.96%
OXA1L
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	fam3 AWJ	14	rs148216086,rs57267429,rs36078271,rs397761468 dbSNP Clinvar	23240713	144.96	T	TAGC	PASS	0/1	61	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.21106	0.21110	0.25276				None None	None None None None	OXA1L\|0.120087489\|47.42%
PALM2-AKAP2
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	fam3 AWJ	9	rs150402481,rs373159646 dbSNP Clinvar	112900341	498.54	G	GG...	PASS	0/1	197	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.00220	0.13100	0.13549				None None	None None None None	PALM2-AKAP2\|0.163410266\|41.09%,AKAP2\|0.121220388\|47.25%
PCDH12
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	fam3 AWJ	5	rs5871792,rs762394243,rs59930617 dbSNP Clinvar	141324955	83.06	C	CC...	PASS	0/1	57	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.52276	0.52280					None None	None None None None	PCDH12\|0.036957049\|66.79%
PCGF6
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	fam3 AWJ	10	rs113359610,rs60968810 dbSNP Clinvar	105110740	343.17	A	AG...	PASS	1/1	36	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.44649	0.44650	0.31420				None None	None None None None	PCGF6\|0.176496571\|39.45%
PCLO
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	fam3 AWJ	7	rs10630259 dbSNP Clinvar	82581488	462.47	T	TTCA	PASS	1/1	81	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.99401	0.99400	0.01408				None None	None None None None	PCLO\|0.112401256\|48.79%
PHF2
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	fam3 AWJ	9	rs149736720,rs75653373 dbSNP Clinvar	96439004	159.7	C	A,...	PASS	0/1	14	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.47304	0.47300	0.33252				None None	None None None None	PHF2\|0.081704166\|54.82%
POU4F2
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	fam3 AWJ	4	rs530695040,rs772231658,rs5862765 dbSNP Clinvar	147560457	141.37	T	TGGC	PASS	0/1	17	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None							None None	None None None None	POU4F2\|0.829800839\|5.08%
PPM1E
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	fam3 AWJ	17	rs201186780 dbSNP Clinvar	56833457	54.33	G	GG...	PASS	0/1	41	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.38898	0.38900					None None	None None None None	PPM1E\|0.33176433\|25.36%
REC8
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	fam3 AWJ	14	rs10690822 dbSNP Clinvar	24646406	915.25	G	GGAA	PASS	1/1	213	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None			0.01692				None None	None None None None	REC8\|0.030069397\|69.37%
SCARF1
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	fam3 AWJ	17	rs142617742 dbSNP Clinvar	1548956	507.64	G	GAGC	PASS	0/1	70	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.03974	0.03974	0.03586				None None	None None None None	SCARF1\|0.035426211\|67.34%
SH3BGR
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	fam3 AWJ	21	rs3831201,rs111921581,rs397694871 dbSNP Clinvar	40883671	418.5	G	GAGA	PASS	0/1	224	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None			0.44871				None None	None None None None	SH3BGR\|0.025744385\|71.44%
TMEM37
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	fam3 AWJ	2	rs3217464 dbSNP Clinvar	120194651	2002.29	A	AG...	PASS	1/1	155	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.89637	0.89640	0.11529				None None	None None None None	TMEM37\|0.024253839\|72.11%
TOX2
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	fam3 AWJ	20	rs199841880,rs34604629 dbSNP Clinvar	42694558	185.68	C	CCCG	PASS	0/1	89	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.03514	0.03514	0.08052				None None	None None None None	TOX2\|0.190676673\|37.74%
UQCRC1
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	fam3 AWJ	3	rs564332864 dbSNP Clinvar	48646685	123.59	C	CT...	PASS	0/1	127	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.00060	0.00060					None None	None None None None	UQCRC1\|0.210072251\|35.57%
ZBTB33
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	fam3 AWJ	X	rs201958171,rs781901311,rs59686094 dbSNP Clinvar	119387833	1123.48	C	CTGA	PASS	1/1	111	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.51444	0.51440					None None	None None None None	ZBTB33\|0.393506803\|21.17%