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INDIVIDUALS: SNP LIST:	GROUPS: SAVED GENE LIST: GENE LIST:	INDIVIDUALS: EXCLUDE SNP LIST:	EXCLUDE GROUPS: EXCLUDE SAVED GENE LIST: EXCLUDE GENE LIST:
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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

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SIFT SCORE	EXCLUDE VARIANTS WITHOUT SIFT SCORE	POLYPHEN2 SCORE	EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
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+ Genes 4

Genes:
ADAM32, APIP, C12orf43, CCT5,

+ Genes associated with diseases 1

Genes at Omim

CCT5,

CCT5	Neuropathy, hereditary sensory, with spastic paraplegia, 256840 (3)

Genes at Clinical Genomics Database

CCT5,

CCT5	Neuropathy, hereditary sensory, with spastic paraplegia

Genes at HGMD

Summary

Number of Variants: 48
Number of Genes: 4

Export to: CSV

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ADAM32
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	trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt	8	rs59118660 dbSNP Clinvar	38965271	0.0	C	T	PASS	0/1	0	START_GAINED	LOW	None	0.43790	0.43790	0.33230				None None	None None None None	ADAM32\|0.008880265\|81.76%
APIP
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	trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt	11	rs2956114 dbSNP Clinvar	34937813	0.0	G	A	PASS	0/1	0	START_GAINED	LOW	None	0.43470	0.43470	0.31670	0.02	0.08		None None	None None None None	APIP\|0.209674362\|35.61%,PDHX\|0.779810523\|6.33%
C12orf43
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	trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt	12	rs2258227 dbSNP Clinvar	121454257	0.0	T	A	PASS	1/1	0	START_GAINED	LOW	None	0.78474	0.78470	0.25142				None None	None None None None	C12orf43\|0.005778578\|84.86%
CCT5
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	trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt	5	rs2578618 dbSNP Clinvar	10250443	0.0	T	C	PASS	1/1	0	START_GAINED	LOW	None	0.68530	0.68530	0.28195		0.00		None None	None None None None	CCT5\|0.365250197\|23.05%
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	trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt	3	rs13091931 dbSNP Clinvar	51422766	0.0	G	T	PASS	0/1	0	START_GAINED	LOW	None			0.07092				None None	None None None None	MANF\|0.380264346\|22.02%
	View	trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt	10	rs3750684 dbSNP Clinvar	1779349	0.0	G	A	PASS	1/1	0	START_GAINED	LOW	None	0.44589	0.44590	0.45510				None None	None None None None	ADARB2\|0.14627916\|43.56%
	View	trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt	14	rs10135976 dbSNP Clinvar	21215728	0.0	G	C	PASS	1/1	0	START_GAINED	LOW	None	0.84784	0.84780	0.25642				None None	None None None None	EDDM3A\|0.00113512\|94.77%
	View	trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt	14	rs2281836 dbSNP Clinvar	50065717	0.0	G	C	PASS	0/1	0	START_GAINED	LOW	None	0.56590	0.56590	0.25992				None None	None None None None	LRR1\|0.304739496\|27.31%
	View	trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt	16	rs841184 dbSNP Clinvar	4660342	0.0	C	T	PASS	1/1	0	START_GAINED	LOW	None	0.81709	0.81710					None None	None None None None	UBALD1\|0.042128338\|65.07%
	View	trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt	16	rs12149160 dbSNP Clinvar	11439303	0.0	G	T	PASS	0/1	0	START_GAINED	LOW	None	0.36062	0.36060					None None	None None None None	RMI2\|0.047383579\|63.49%
	View	trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt	16	rs8398 dbSNP Clinvar	77233338	0.0	C	T	PASS	0/1	0	START_GAINED	LOW	None	0.35783	0.35780					None None	None None None None	MON1B\|0.032029685\|68.61%,SYCE1L\|0.000938704\|95.86%
	View	trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt	18	rs9964971 dbSNP Clinvar	12094006	0.0	C	T	PASS	1/1	0	START_GAINED	LOW	None	0.52596	0.52600					None None	None None None None	ANKRD62\|0.00149963\|92.78%
	View	trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt	18	rs77891683 dbSNP Clinvar	53303150	0.0	T	C	PASS	0/1	0	START_GAINED	LOW	None	0.00479	0.00479	0.01486				None None	None None None None	TCF4\|0.999272266\|0.38%
	View	trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt	3	rs2276868 dbSNP Clinvar	40498845	0.0	C	T	PASS	0/1	0	START_GAINED	LOW	None	0.47105	0.47100	0.44449				None None	None None None None	RPL14\|0.064797243\|58.69%
	View	trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt	22	rs1061063 dbSNP Clinvar	21213380	0.0	C	T	PASS	0/1	0	START_GAINED	LOW	None	0.46386	0.46390	0.48199				None None	None None None None	PI4KA\|0.213566628\|35.17%,SNAP29\|0.054406719\|61.36%
	View	trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt	1	rs183678603 dbSNP Clinvar	18149500	0.0	C	T	PASS	0/1	0	START_GAINED	LOW	None	0.00020	0.00020					None None	None None None None	ACTL8\|0.001905215\|91.23%
	View	trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt	1	rs2307130 dbSNP Clinvar	100316589	0.0	A	G	PASS	1/1	0	START_GAINED	LOW	None	0.42712	0.42710	0.41573				None None	None None None None	AGL\|0.644094308\|10.32%
	View	trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt	1	rs17624493 dbSNP Clinvar	152777964	0.0	G	A	PASS	0/1	0	START_GAINED	LOW	None	0.15974	0.15970	0.26334				None None	None None None None	LCE1C\|0.011352019\|79.73%
	View	trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt	1	rs7522811 dbSNP Clinvar	248005213	0.0	G	C	PASS	1/1	0	START_GAINED	LOW	None	0.84485	0.84480	0.18389				None None	None None None None	OR11L1\|0.007911814\|82.68%
	View	trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt	4	rs28672900 dbSNP Clinvar	69434217	0.0	G	A	PASS	1/1	0	START_GAINED	LOW	None	0.99401	0.99400	0.00894				None None	None None None None	UGT2B17\|0.003689216\|87.45%
	View	trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt	4	rs28674149 dbSNP Clinvar	71384488	0.0	C	T	PASS	1/1	0	START_GAINED	LOW	None	0.89736	0.89740	0.07481				None None	None None None None	AMTN\|0.018262621\|75.13%
	View	trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt	7	rs38414 dbSNP Clinvar	30544360	0.0	G	A	PASS	0/1	0	START_GAINED	LOW	None	0.61262	0.61260	0.34669				None None	None None None None	GGCT\|0.233149283\|33.08%
	View	trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt	7	rs2893555 dbSNP Clinvar	38393882	0.0	T	C	PASS	0/1	0	START_GAINED	LOW	None	0.10663	0.10660					None None	None None None None	None
	View	trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt	8	rs200288821 dbSNP Clinvar	7345223	0.0	C	T	PASS	0/1	0	START_GAINED	LOW	None							None None	None None None None	DEFB105B\|0.002019377\|90.95%
	View	trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt	10	.	74874118	0.0	C	A	PASS	0/1	0	START_GAINED	LOW	None							None None	None None None None	NUDT13\|0.121776978\|47.18%
	View	trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt	11	rs1110206 dbSNP Clinvar	1507795	0.0	G	A	PASS	0/1	0	START_GAINED	LOW	None	0.37001	0.37000					None None	None None None None	MOB2\|0.050027821\|62.66%
	View	trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt	12	rs1131017 dbSNP Clinvar	56435929	0.0	C	G	PASS	0/1	0	START_GAINED	LOW	None	0.55591	0.55590	0.46494				None None	None None None None	RPS26\|0.132252327\|45.57%
	View	trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt	14	rs7156953 dbSNP Clinvar	65016702	0.0	T	G	PASS	0/1	0	START_GAINED	LOW	None	0.82488	0.82490	0.19535				None None	None None None None	PPP1R36\|0.100033434\|51.18%
	View	trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt	15	rs3743364 dbSNP Clinvar	92937276	0.0	C	T	PASS	0/1	0	START_GAINED	LOW	None	0.57328	0.57330	0.26005				None None	None None None None	ST8SIA2\|0.471581284\|17.11%
	View	trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt	16	rs12928825 dbSNP Clinvar	20085030	0.0	G	A	PASS	0/1	0	START_GAINED	LOW	None	0.42991	0.42990					None None	None None None None	GPR139\|0.279358296\|29.15%
	View	trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt	19	rs2965248 dbSNP Clinvar	53761606	0.0	C	T	PASS	1/1	0	START_GAINED	LOW	None	0.30751	0.30750	0.23794				None None	None None None None	VN1R2\|0.000941431\|95.84%
	View	trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt	19	rs11084490 dbSNP Clinvar	57742472	0.0	G	C	PASS	0/1	0	START_GAINED	LOW	None	0.86761	0.86760					None None	None None None None	AURKC\|0.010911185\|80.15%
	View	trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt	19	rs58264281 dbSNP Clinvar	57742489	0.0	C	T	PASS	0/1	0	START_GAINED	LOW	None	0.76777	0.76780					None None	None None None None	AURKC\|0.010911185\|80.15%
	View	trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt	22	.	42229257	0.0	T	G	PASS	0/1	0	START_GAINED	LOW	None							None None	None None None None	SREBF2\|0.23617464\|32.79%
	View	trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt	22	rs6002555 dbSNP Clinvar	42343091	0.0	G	A	PASS	0/1	0	START_GAINED	LOW	None	0.45048	0.45050	0.42077				None None	None None None None	CENPM\|0.116261975\|48.08%
	View	trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt	8	rs200099086 dbSNP Clinvar	7681380	0.0	G	A	PASS	0/1	0	START_GAINED	LOW	None							None None	None None None None	DEFB105A\|0.002147291\|90.61%
	View	trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt	8	rs1383942 dbSNP Clinvar	13357587	0.0	G	A	PASS	1/1	0	START_GAINED	LOW	None	0.74161	0.74160	0.16293				None None	None None None None	DLC1\|0.140256235\|44.36%
	View	trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt	9	rs2490582 dbSNP Clinvar	79009106	0.0	A	C	PASS	1/1	0	START_GAINED	LOW	None	0.99940	0.99940	0.00094				None None	None None None None	RFK\|0.049264247\|62.87%
	View	trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt	11	rs600761 dbSNP Clinvar	125766204	0.0	G	C	PASS	1/1	0	START_GAINED	LOW	None	0.79533	0.79530	0.20439				None None	None None None None	HYLS1\|0.203741521\|36.27%,PUS3\|0.196032535\|37.16%
	View	trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt	12	rs1136666 dbSNP Clinvar	6643991	0.0	C	G	PASS	0/1	0	START_GAINED	LOW	None	0.25280	0.25300	0.26284				None None	None None None None	GAPDH\|0.99999903\|0.02%
	View	trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt	16	rs111993640 dbSNP Clinvar	29817998	0.0	C	T	PASS	1/1	0	START_GAINED	LOW	None	0.90216	0.90220	0.05368				None None	None None None None	MAZ\|0.138761038\|44.56%
	View	trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt	16	rs1550477 dbSNP Clinvar	30773822	0.0	T	C	PASS	1/1	0	START_GAINED	LOW	None	0.96745	0.96750	0.03755				None None	None None None None	C16orf93\|0.035000092\|67.48%,RNF40\|0.268448821\|29.98%
	View	trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt	19	rs20579 dbSNP Clinvar	48668830	0.0	G	A	PASS	0/1	0	START_GAINED	LOW	None	0.17312	0.17310	0.18445				None None	None None None None	LIG1\|0.151237041\|42.8%
	View	trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt	X	rs1264011 dbSNP Clinvar	53449568	0.0	G	A	PASS	1/1	0	START_GAINED	LOW	None	0.39841	0.39840	0.40604				None None	None None None None	SMC1A\|0.539151883\|14.23%
	View	trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt	6	rs2803496 dbSNP Clinvar	41196156	0.0	C	T	PASS	1/1	0	START_GAINED	LOW	None	0.89097	0.89100	0.13496				None None	None None None None	TREML4\|0.0003863\|99.03%
	View	trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt	X	rs7885967 dbSNP Clinvar	103268241	0.0	G	A	PASS	1/1	0	START_GAINED	LOW	None	0.30861	0.30860	0.30267				None None	None None None None	H2BFWT\|0.000409508\|98.89%
	View	trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt	6	rs11752816 dbSNP Clinvar	46107312	0.0	G	A	PASS	0/1	0	START_GAINED	LOW	None	0.17871	0.17870	0.11886				None None	None None None None	ENPP4\|0.141883971\|44.16%
	View	trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt	7	rs4262 dbSNP Clinvar	93551428	0.0	C	T	PASS	1/1	0	START_GAINED	LOW	None	0.54673	0.54670	0.49493				None None	None None None None	GNG11\|0.135734963\|45.01%

+ Filter Options

FREQUENCIES

SCORES

+ Genes 4

+ Genes associated with diseases 1

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

ADAM32

APIP

C12orf43

CCT5

Langdon's Birthday

Frodo Updated His Profile

Nora Joined Mailing List

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