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 CHR:

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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

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+ Genes 1

Genes:
NOTCH4,

+ Genes associated with diseases

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 11
Number of Genes: 1

Export to: CSV
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NOTCH4
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 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs151131761
dbSNP Clinvar 		32184835 1544.77 C T PASS 0/1 111 NON_SYNONYMOUS_CODING MODERATE None 0.01078 0.01078 0.00178 0.00 1.00 5.65 None None None None None None NOTCH4|0.816387806|5.41%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs8192579
dbSNP Clinvar 		32163799 1610.77 T C PASS 0/1 127 SYNONYMOUS_CODING LOW None 0.08427 0.08427 0.06140 None None None None None None NOTCH4|0.816387806|5.41%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs1044506
dbSNP Clinvar 		32172065 6866.77 T G PASS 1/1 176 SYNONYMOUS_CODING LOW None 0.96326 0.96330 0.09663 None None None None None None NOTCH4|0.816387806|5.41%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs423023
dbSNP Clinvar 		32188297 1100.77 G C PASS 0/1 99 SYNONYMOUS_CODING LOW None 0.00060 0.00060 None None None None None None NOTCH4|0.816387806|5.41%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs422951
dbSNP Clinvar 		32188383 1861.77 T C PASS 0/1 136 NON_SYNONYMOUS_CODING MODERATE None 0.34305 0.34310 0.40024 0.42 0.00 -2.28 None None None None None None NOTCH4|0.816387806|5.41%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs520803
dbSNP Clinvar 		32188603 3401.77 C T PASS 0/1 233 SYNONYMOUS_CODING LOW None 0.26777 0.26780 0.28410 None None None None None None NOTCH4|0.816387806|5.41%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 . 32188640 2052.46 TCT CCC PASS 0/1 193 NON_SYNONYMOUS_CODING MODERATE None None None None None None None NOTCH4|0.816387806|5.41%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 . 32191658 695.19 TA... TA... PASS 1/2 17 CODON_INSERTION MODERATE None None None None None None None NOTCH4|0.816387806|5.41%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs415929
dbSNP Clinvar 		32189032 1972.77 T C PASS 0/1 144 SYNONYMOUS_CODING LOW None 0.27995 0.28000 0.28348 None None None None None None NOTCH4|0.816387806|5.41%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs443198
dbSNP Clinvar 		32190406 2097.77 A G PASS 0/1 153 SYNONYMOUS_CODING LOW None 0.46066 0.46070 0.40397 None None None None None None NOTCH4|0.816387806|5.41%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs8192569
dbSNP Clinvar 		32190484 2217.77 G A PASS 0/1 140 SYNONYMOUS_CODING LOW None 0.21506 0.21510 0.15547 None None None None None None NOTCH4|0.816387806|5.41%
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