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 CHR:

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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

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+ Genes 10

+ Genes associated with diseases 2

Genes at Omim

COL9A2, MERTK,
COL9A2 Epiphyseal dysplasia, multiple, 2, 600204 (3)
?Stickler syndrome, type V, 614284 (3)
MERTK Retinitis pigmentosa 38, 613862 (3)

Genes at Clinical Genomics Database

COL9A2, MERTK,
COL9A2 Stickler syndrome, Type V
MERTK Retinitis pigmentosa 38

Genes at HGMD

Summary

Number of Variants: 10
Number of Genes: 10

Export to: CSV
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COL9A2
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 eb1954_unique 1 rs2228565
dbSNP Clinvar 		40775937 3327.1 G A PASS 0/1 124 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.00899 0.00899 0.02599 0.19 0.00 2.20 None None None None None None COL9A2|0.155899915|42.16%

KLHDC2
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 eb1954_unique 14 rs75533958
dbSNP Clinvar 		50246931 2630.18 A C PASS 0/1 249 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.00100 0.00100 0.00015 0.37 0.20 1.67 0.03 0.5417 D None None None None KLHDC2|0.495337979|16.05%

MEGF6
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 eb1954_unique 1 rs762680590
dbSNP Clinvar 		3426434 321.29 G A PASS 0/1 27 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.73 0.00 -0.53 0.17 0.84612 D None None None None MEGF6|0.015000744|77.13%

MERTK
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 eb1954_unique 2 . 112725829 1544.18 G C VQSRTrancheSNP99.00to99.90 0/1 134 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.01 0.03 2.54 None None None None None None MERTK|0.05411075|61.44%

MON2
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 eb1954_unique 12 rs770826271
dbSNP Clinvar 		62928627 2464.18 A G PASS 0/1 190 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.38 0.00 1.32 0.02 0.46585 T None None None None MON2|0.430627256|19.11%

PCDH1
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 eb1954_unique 5 rs12517385
dbSNP Clinvar 		141248994 1842.18 G A PASS 0/1 122 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.00260 0.00260 0.00662 0.00 0.00 3.69 None None None None None None PCDH1|0.2590564|30.82%

SEP15
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 eb1954_unique 1 rs11555169
dbSNP Clinvar 		87369131 1227.18 C A PASS 0/1 112 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.00978 0.00978 0.01250 0.41 0.00 2.60 None None None None None None None

TEX9
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 eb1954_unique 15 rs200499453
dbSNP Clinvar 		56676229 3563.18 G A PASS 0/1 325 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.00020 0.00020 0.00008 0.34 0.01 1.35 None None None None None None TEX9|0.079650795|55.26%

TRBC2
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 eb1954_unique 7 rs376747191
dbSNP Clinvar 		142499645 2279.18 G A PASS 0/1 192 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.00016 0.19 0.00 None None None None None None None

TULP3
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 eb1954_unique 12 rs998814
dbSNP Clinvar 		3049698 49752.27 T C PASS 1/1 331 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.27736 0.27740 0.26456 0.84 0.00 -1.38 None None None None None None TULP3|0.05525804|61.13%
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