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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

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+ Genes 8

+ Genes associated with diseases 3

Genes at Omim

AQP7, CBS, KMT2C,
AQP7 [Glycerol quantitative trait locus], 614411 (3)
CBS Homocystinuria, B6-responsive and nonresponsive types, 236200 (3)
Thrombosis, hyperhomocysteinemic, 236200 (3)
KMT2C Kleefstra syndrome 2, 617768 (3)

Genes at Clinical Genomics Database

CBS,
CBS Homocystinuria due to cystathionine beta-synthase deficiency

Genes at HGMD

Summary

Number of Variants: 8
Number of Genes: 8

Export to: CSV
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AQP7
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 combined sample_44.variant8 9 rs745617679
dbSNP Clinvar 		33395131 1127.6 T TC... PASS 0/1 332 FRAME_SHIFT+STOP_GAINED HIGH None None None None None None None AQP7|0.012677613|78.76%

CBS
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 combined sample_44.variant8 21 rs876657421
dbSNP Clinvar 		44483184 2256.96 A AT... PASS 0/1 105 FRAME_SHIFT+STOP_GAINED HIGH None None None None None None None CBS|0.170288794|40.28%

CEP89
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 combined sample_44.variant8 19 rs369654010
dbSNP Clinvar 		33444600 812.88 T TC... PASS 0/2 117 FRAME_SHIFT+STOP_GAINED HIGH None None None None None None None CEP89|0.007695004|82.86%

CNTN5
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 combined sample_44.variant8 11 . 99690483 1873.11 C CA... PASS 0/1 135 FRAME_SHIFT+STOP_GAINED HIGH None None None None None None None CNTN5|0.790800052|6.1%

CTC-241N9.1
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 combined sample_44.variant8 5 rs1611076
dbSNP Clinvar 		179287622 3294.5 G GTA PASS 0/1 188 FRAME_SHIFT+STOP_GAINED HIGH None 0.48263 0.48260 None None None None None None C5orf45|0.001770546|91.6%

KMT2C
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 combined sample_44.variant8 7 rs150073007
dbSNP Clinvar 		151945071 1388.82 G GT PASS 0/1 282 FRAME_SHIFT+STOP_GAINED HIGH None None None None None None None KMT2C|0.088346598|53.58%

MROH8
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 combined sample_44.variant8 20 . 35807790 4361.37 G GC... PASS 1/1 63 FRAME_SHIFT+STOP_GAINED HIGH None 0.32368 None None None None None None MROH8|0.030021625|69.39%,RPN2|0.272886189|29.64%

WWTR1
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 combined sample_44.variant8 3 rs112399999
dbSNP Clinvar 		149238595 2540.06 C CTTAA PASS 0/1 144 FRAME_SHIFT+STOP_GAINED HIGH None 0.11442 0.11440 0.10719 None None None None None None WWTR1|0.656667266|9.85%
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