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cgpu/exomiser_variants.tsv

Created July 5, 2021 12:13
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exomiser_variants.tsv
#CHROM POS REF ALT QUAL FILTER GENOTYPE COVERAGE FUNCTIONAL_CLASS HGVS EXOMISER_GENE CADD(>0.483) POLYPHEN(>0.956|>0.446) MUTATIONTASTER(>0.94) SIFT(<0.06) REMM DBSNP_ID MAX_FREQUENCY DBSNP_FREQUENCY EVS_EA_FREQUENCY EVS_AA_FREQUENCY EXAC_AFR_FREQ EXAC_AMR_FREQ EXAC_EAS_FREQ EXAC_FIN_FREQ EXAC_NFE_FREQ EXAC_SAS_FREQ EXAC_OTH_FREQ EXOMISER_VARIANT_SCORE EXOMISER_GENE_PHENO_SCORE EXOMISER_GENE_VARIANT_SCORE EXOMISER_GENE_COMBINED_SCORE CONTRIBUTING_VARIANT
5 54645453 G C 56.28 PASS 1/1 2 coding_transcript_intron_variant MSH3:ENST00000265081.7:c.1763+5985G>C:p.(=) MSH3 0.87123436 . . . . rs545257536 0.17211704 0.01997 . . . . . . . . . 0.8490899 0.7553215 0.8490899 0.9138005 CONTRIBUTING_VARIANT
2 54645456 C CTT 35.48 PASS 1|1 1 splice_donor_variant SPTBN1:ENST00000333896.5:c.4455_4455+1insTT:p.? SPTBN1 . . . . . . 0.0 . . . . . . . . . . 1.0 0.5294758 1.0 0.8020762 CONTRIBUTING_VARIANT
2 1789757 G GGGTTGGAGAGAGGATGCCTTTGGCA 35.48 PASS 1|1 1 splice_region_variant SPTBN1:ENST00000333896.5:c.4455+3_4455+4insGGTTGGAGAGAGGATGCCTTTGGCA:p.? SPTBN1 . . . . . . 0.0 . . . . . . . . . . 0.8 0.5294758 1.0 0.8020762 .
4 11232249 A A 58.28 PASS 1|1 2 upstream_gene_variant FGFR3:ENST00000440486.7:: FGFR3 0.7985348 . . . . . 0.0 . . . . . . . . . . 0.7985348 0.6991877 0.7985348 0.78804404 CONTRIBUTING_VARIANT
19 80750600 G T 37.28 PASS 1/1 2 coding_transcript_intron_variant DOCK6:ENST00000294618.12:c.2718+954C>A:p.(=) DOCK6 0.9938341 . 1.0 . . . 0.0 . . . . . . . . . . 1.0 0.5187771 1.0 0.7838277 CONTRIBUTING_VARIANT
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