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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:
AC009892.10, AC079612.1, ACSM2A, ADH4, ANKDD1B, ANKRD36C, ARSD, C1orf167, C5orf38, C8orf49, CASP12, CCHCR1, CDC27, CDH15, CDRT15, CLDN5, CNTN5, CPN2, DNAH11, EGR4, FAM104B, FAM187B, FAM92B, FMO6P, FOXD4L3, FTHL17, FUT2, GAB4, GOLGA6L6, GOLGA8S, GXYLT1, GYPC, H2BFM, HLA-DRB1, HLA-DRB5, HPS4, IDO2, IGHV3OR16-13, IGLV5-48, IGSF3, IL17RB, KIR2DL4, KRT37, KRTAP1-1, KRTAP10-6, LINC00955, LRP12, MAGEB16, MAP2K3, MOB3C, MROH2B, MT4, MUC19, MUC3A, MUC6, NACA2, NBPF12, NBPF9, NCOR1, NDUFB9, NPDC1, NPIPB15, OR10D3, OR10X1, OR2J1, OR2L8, OR4C16, OR4C3, OR4C5, OR4P4, OR4X1, OR4X2, OR51Q1, OR5AR1, OR5K2, OR5M11, OR8I2, OVCH1-AS1, PDE4DIP, PKD1L2, PPP1R14D, PRAMEF1, PRAMEF2, PRB4, PRIM2, PVRIG, RBM48, SERPINA10, SKA3, SLC22A10, SLC22A24, SLC35G6, SLC5A9, SLC9B1, SMCHD1, SPATA8, SRL, TBC1D3C, TCP10L2, TIAM2, TLR5, TMEM86B, TPTE, TRBV10-1, TRBV30, TRGV11, TROAP, TTC4, UBE2NL, USP29, WDR90, ZACN, ZC3H3, ZNF117, ZNF717, ZNF80, ZSWIM1,

+ Genes associated with diseases 11

Genes at Omim

CASP12, CDH15, DNAH11, FUT2, GYPC, HLA-DRB1, HPS4, IGSF3, NDUFB9, SMCHD1, TLR5,

CASP12	{Sepsis, susceptibility to} (3)
CDH15	Mental retardation, autosomal dominant 3, 612580 (3)
DNAH11	Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3)
FUT2	{Norwalk virus infection, resistance to} (3) {Vitamin B12 plasma level QTL1}, 612542 (3) [Bombay phenotype, digenic], 616754 (3)
GYPC	{Malaria, resistance to}, 611162 (3) [Blood group, Gerbich], 616089 (3)
HLA-DRB1	{Multiple sclerosis, susceptibility to, 1}, 126200 (3) {Sarcoidosis, susceptibility to, 1}, 181000 (3)
HPS4	Hermansky-Pudlak syndrome 4, 614073 (3)
IGSF3	?Lacrimal duct defect, 149700 (3)
NDUFB9	?Mitochondrial complex I deficiency, nuclear type 24, 618245 (3)
SMCHD1	Bosma arhinia microphthalmia syndrome, 603457 (3) Fascioscapulohumeral muscular dystrophy 2, digenic, 158901 (3)
TLR5	{Legionnaire disease, susceptibility to}, 608556 (3) {Melioidosis, susceptibility to}, 615557 (3) {Systemic lupus erythematosus, resistance to}, 601744 (3) {Systemic lupus erythematosus, susceptibility to, 1}, 601744 (3)

Genes at Clinical Genomics Database

CDH15, DNAH11, GYPC, HPS4, IGSF3, SMCHD1,

CDH15	Mental retardation, autosomal dominant 3
DNAH11	Ciliary dyskinesia, primary, 7
GYPC	Blood group, Gerbich Blood group, Webb Blood group, Duch
HPS4	Hermansky-Pudlak syndrome 4
IGSF3	Lacrimal duct defect
SMCHD1	Facioscapulohumeral muscular dystrophy, type 2

Genes at HGMD

Summary

Number of Variants: 133
Number of Genes: 117

Export to: CSV

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AC009892.10
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	62455815_s29 mvar	19	.	55147428	21.08	G	A	PASS	0/1	0	STOP_GAINED	HIGH	None							None None	None None None None	LILRB1\|0.00078612\|96.76%
AC079612.1
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	62455815_s29 mvar	2	rs59626274 dbSNP Clinvar	240500249	1917.77	C	T	PASS	0/1	0	STOP_GAINED	HIGH	None	0.07268	0.07268	0.08432				None None	None None None None	None
ACSM2A
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	62455815_s29 mvar	16	rs59261767 dbSNP Clinvar	20477004	617.77	C	T	PASS	0/1	0	STOP_GAINED	HIGH	None	0.04573	0.04573	0.00261				None None	None None None None	ACSM2A\|0.005190474\|85.6%
ADH4
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	62455815_s29 mvar	4	rs3919370 dbSNP Clinvar	100064326	407.77	A	T	PASS	0/1	0	STOP_GAINED	HIGH	None	0.11681	0.11680					None None	None None None None	ADH4\|0.01057839\|80.46%
ANKDD1B
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	62455815_s29 mvar	5	rs34358 dbSNP Clinvar	74965122	774.77	G	A	PASS	0/1	0	STOP_GAINED	HIGH	None	0.50699	0.50700					None None	None None None None	ANKDD1B\|0.036539802\|66.95%
ANKRD36C
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	62455815_s29 mvar	2	rs76474100 dbSNP Clinvar	96617111	46.01	G	A	PASS	0/1	0	STOP_GAINED	HIGH	None	0.00040	0.00040					None None	None None None None	ANKRD36C\|0.001406745\|93.3%
	View	62455815_s29 mvar	2	rs56121945 dbSNP Clinvar	96519588	484.77	G	A	PASS	0/1	0	STOP_GAINED	HIGH	None							None None	None None None None	ANKRD36C\|0.001406745\|93.3%
ARSD
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	62455815_s29 mvar	X	rs111939179 dbSNP Clinvar	2833605	239.77	C	T	PASS	0/1	0	STOP_GAINED	HIGH	None							None None	None None None None	ARSD\|0.001611053\|92.29%
C1orf167
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	62455815_s29 mvar	1	rs41275466 dbSNP Clinvar	11844520	1068.77	C	T	PASS	0/1	0	STOP_GAINED	HIGH	None	0.01198	0.01198					None None	None None None None	C1orf167\|0.000902211\|96.01%
C5orf38
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	62455815_s29 mvar	5	rs62333235 dbSNP Clinvar	2755485	1159.77	C	T	PASS	0/1	0	STOP_GAINED	HIGH	None	0.29673	0.29670					None None	None None None None	C5orf38\|0.009040618\|81.62%
C8orf49
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