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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:
AKAP12, AKAP9, ALMS1, BCL6B, C14orf23, C18orf25, CBX4, DCP1B, DNHD1, EIF2AK4, EME1, EP400, FAM171B, FERD3L, FRG1B, HADHB, HAVCR1, HOXD9, IFI27, IGHV4-4, LSR, LTF, MAGEF1, MUC3A, MUC4, NUP54, OR7C2, OXA1L, PCDH12, PCLO, POU4F2, PPM1E, PRICKLE4, REC8, SLC28A1, SNRPC, SYNGR1, TBP, TMEM37, USP40, ZBTB33, ZNF772, ZNF880,

+ Genes associated with diseases 7

Genes at Omim

AKAP9, ALMS1, EIF2AK4, HADHB, PCDH12, PCLO, TBP,

AKAP9	?Long QT syndrome-11, 611820 (3)
ALMS1	Alstrom syndrome, 203800 (3)
EIF2AK4	Pulmonary venoocclusive disease 2, 234810 (3)
HADHB	Trifunctional protein deficiency, 609015 (3)
PCDH12	Microcephaly, seizures, spasticity, and brain calcification, 251280 (3)
PCLO	?Pontocerebellar hypoplasia, type 3, 608027 (3)
TBP	{Parkinson disease, susceptibility to}, 168600 (3) Spinocerebellar ataxia 17, 607136 (3)

Genes at Clinical Genomics Database

AKAP9, ALMS1, EIF2AK4, HADHB, TBP,

AKAP9	Long QT syndrome 11
ALMS1	Alstrom syndrome
EIF2AK4	Pulmonary venoocclusive disease 2
HADHB	Trifunctional protein deficiency
TBP	Spinocerebellar ataxia 17

Genes at HGMD

Summary

Number of Variants: 43
Number of Genes: 43

Export to: CSV

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Page 1 of 1

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	75_filt_10x	6	rs3842128,rs113116275,rs34338625 dbSNP Clinvar	151674116	1626.73	T	TGAG	PASS	0/1	61	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	75_filt_10x	7	rs10644111,rs397825978 dbSNP Clinvar	91652178	667.73	A	AAAC	PASS	1/1	12	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	75_filt_10x	2	rs587621330,rs34628045 dbSNP Clinvar	73675227	1307.73	T	TCTC	PASS	1/1	22	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	75_filt_10x	17	rs146207245,rs72254884 dbSNP Clinvar	6928019	214.73	C	CCAG	PASS	0/1	26	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.66234	0.66230					None None	None None None None	BCL6B\|0.213572706\|35.16%
C14orf23
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	75_filt_10x	14	rs200251419 dbSNP Clinvar	29261305	578.73	A	AAAC	PASS	0/1	56	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None							None None	None None None None	LINC01551\|0.030992921\|68.96%
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	75_filt_10x	18	rs34068795,rs397790301 dbSNP Clinvar	43833701	1150.73	T	TCTG	PASS	1/1	19	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.69269	0.69270					None None	None None None None	C18orf25\|0.503978181\|15.65%
CBX4
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	75_filt_10x	17	rs754126884 dbSNP Clinvar	77807917	491.73	T	TG...	PASS	0/1	17	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None			0.07301				None None	None None None None	CBX4\|0.061366203\|59.47%
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	75_filt_10x	12	rs149912567,rs749249960,rs111543431,rs71057810 dbSNP Clinvar	2062323	1391.52	T	TTGC	PASS	0/1	40	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	75_filt_10x	11	.	6567895	4146.73	C	CT...	PASS	1/1	30	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.99421		0.06595				None None	None None None None	DNHD1\|0.019835865\|74.26%
EIF2AK4
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	75_filt_10x	15	rs377237751 dbSNP Clinvar	40268998	1387.73	G	GG...	PASS	0/1	30	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.08986	0.08986	0.08258				None None	None None None None	EIF2AK4\|0.222061517\|34.2%
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	75_filt_10x	17	rs558756129,rs36080231,rs3060668 dbSNP Clinvar	48452978	664.73	A	AAGC	PASS	0/1	31	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%
EP400
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	75_filt_10x	12	rs773920706,rs68030464,rs774848918,rs879249536,rs367737531 dbSNP Clinvar	132547068	399.75	G	GGCA	PASS	1/1	12	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None							None None	None None None None	EP400\|0.051215115\|62.27%
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	75_filt_10x	2	rs549897920 dbSNP Clinvar	187559029	1295.73	A	ACAG	PASS	1/1	31	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.17272	0.18950					None None	None None None None	FAM171B\|0.143209943\|43.96%
FERD3L
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	75_filt_10x	7	rs71017023 dbSNP Clinvar	19184746	974.73	C	CTCT	PASS	0/1	28	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.16693	0.16690	0.20123				None None	None None None None	FERD3L\|0.185457241\|38.31%
FRG1B
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	75_filt_10x	20	rs112430454 dbSNP Clinvar	29625925	6642.73	C	CTTG	PASS	0/1	200	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None							None None	None None None None	FRG1B\|0.009509512\|81.26%
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	75_filt_10x	2	rs3839049,rs59947000 dbSNP Clinvar	26477125	3336.73	G	GACT	PASS	1/1	66	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	75_filt_10x	5	rs139041445,rs77147640 dbSNP Clinvar	156479568	2720.73	C	CGTT	PASS	0/1	75	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.01398	0.33050	0.42746				None None	None None None None	HAVCR1\|0.00064813\|97.55%
HOXD9
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	75_filt_10x	2	rs56007470,rs529626130,rs397814627 dbSNP Clinvar	176988290	440.73	C	CGCA	PASS	0/1	16	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None		0.33830					None None	None None None None	HOXD9\|0.934212013\|2.67%
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	75_filt_10x	14	rs3833507 dbSNP Clinvar	94582130	1149.74	T	TG...	PASS	1/1	10	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.65775	0.65770	0.34781				None None	None None None None	IFI27\|0.001693986\|91.92%
IGHV4-4
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	75_filt_10x	14	rs375136790 dbSNP Clinvar	106478311	1389.73	A	AC...	PASS	1/1	15	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.06849	0.21550	0.37460				None None	None None None None	None
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	75_filt_10x	19	rs142507475,rs397751431 dbSNP Clinvar	35758275	617.73	G	GGGA	PASS	1/1	12	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	75_filt_10x	3	rs10662431,rs55665884 dbSNP Clinvar	46501284	1964.73	C	CCTT	PASS	1/1	32	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	75_filt_10x	3	rs34995413,rs112819846,rs397720350 dbSNP Clinvar	184429133	393.75	A	ATCC	PASS	1/1	11	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None							None None	None None None None	MAGEF1\|0.006287467\|84.31%
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	75_filt_10x	7	rs111723000,rs374888812 dbSNP Clinvar	100550032	1232.73	C	CCCT	PASS	0/1	66	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None							None None	None None None None	MUC3A\|0.001683398\|91.94%
MUC4
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	75_filt_10x	3	rs142781032,rs71180965 dbSNP Clinvar	195518112	6700.73	T	TG...	PASS	1/1	46	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.72863	0.72860	0.25234				None None	None None None None	MUC4\|0.005441696\|85.29%
NUP54
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	75_filt_10x	4	rs36024409,rs57577548 dbSNP Clinvar	77065318	1659.73	C	CTGT	PASS	0/1	63	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.15495	0.15500	0.12332				None None	None None None None	NUP54\|0.507295203\|15.51%
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	75_filt_10x	19	rs3044711,rs397816267 dbSNP Clinvar	15052983	2964.73	T	TATC	PASS	1/1	52	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	75_filt_10x	14	rs148216086,rs57267429,rs36078271,rs397761468 dbSNP Clinvar	23240713	1180.73	T	TAGC	PASS	0/1	82	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.21106	0.21110	0.25276				None None	None None None None	OXA1L\|0.120087489\|47.42%
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	75_filt_10x	5	rs5871792,rs762394243,rs59930617 dbSNP Clinvar	141324955	1248.73	C	CC...	PASS	0/1	35	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.52276	0.52280					None None	None None None None	PCDH12\|0.036957049\|66.79%
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	75_filt_10x	7	rs10630259 dbSNP Clinvar	82581488	3325.73	T	TTCA	PASS	1/1	61	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.99401	0.99400	0.01408				None None	None None None None	PCLO\|0.112401256\|48.79%
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	75_filt_10x	4	rs530695040,rs772231658,rs5862765 dbSNP Clinvar	147560457	480.73	T	TGGC	PASS	1/1	18	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	75_filt_10x	17	rs201186780 dbSNP Clinvar	56833457	435.8	G	GG...	PASS	1/1	8	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.38898	0.38900					None None	None None None None	PPM1E\|0.33176433\|25.36%
PRICKLE4
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	75_filt_10x	6	rs140326303 dbSNP Clinvar	41754573	1078.73	C	CCTT	PASS	0/1	42	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.60723	0.60720	0.44942				None None	None None None None	PRICKLE4\|0.024861763\|71.86%
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	75_filt_10x	14	rs10690822 dbSNP Clinvar	24646406	1067.73	G	GGAA	PASS	1/1	22	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None			0.01692				None None	None None None None	REC8\|0.030069397\|69.37%
SLC28A1
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	75_filt_10x	15	rs151038463,rs17215836 dbSNP Clinvar	85438311	311.73	C	CTTG	PASS	0/1	11	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.25839	0.25840	0.30177				None None	None None None None	SLC28A1\|0.017310732\|75.67%
SNRPC
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	75_filt_10x	6	rs34594913,rs201765428 dbSNP Clinvar	34725655	2527.73	G	GTCA	PASS	1/1	48	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.22185	0.22180					None None	None None None None	SNRPC\|0.847905278\|4.69%
SYNGR1
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	75_filt_10x	22	rs149306472 dbSNP Clinvar	39777822	1430.73	C	CCAA	PASS	1/1	26	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.86082	0.86080	0.25917				None None	None None None None	SYNGR1\|0.100294024\|51.11%
TBP
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	75_filt_10x	6	rs201732168,rs748407795,rs113202486 dbSNP Clinvar	170871013	555.73	A	ACAG	PASS	1/1	16	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None							None None	None None None None	TBP\|0.773041941\|6.48%
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	75_filt_10x	2	rs3217464 dbSNP Clinvar	120194651	1073.73	A	AG...	PASS	1/1	12	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.89637	0.89640	0.11529				None None	None None None None	TMEM37\|0.024253839\|72.11%
USP40
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	75_filt_10x	2	rs141501074,rs59586144,rs397953463 dbSNP Clinvar	234429739	380.73	T	TTTC	PASS	0/1	21	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.14956	0.14960	0.20765				None None	None None None None	USP40\|0.035808402\|67.19%
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	75_filt_10x	X	rs201958171,rs781901311,rs59686094 dbSNP Clinvar	119387833	3486.73	C	CTGA	PASS	1/1	71	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.51444	0.51440					None None	None None None None	ZBTB33\|0.393506803\|21.17%
ZNF772
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	75_filt_10x	19	rs528587884,rs34678661 dbSNP Clinvar	57988666	760.73	A	AGCC	PASS	1/1	17	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.40675	0.40670	0.28563				None None	None None None None	ZNF772\|0.002951942\|88.73%
ZNF880
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	75_filt_10x	19	rs34678014,rs398071206 dbSNP Clinvar	52887246	479.73	T	TCAA	PASS	0/1	27	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None			0.34413				None None	None None None None	ZNF880\|0.002180877\|90.48%