Created
June 14, 2021 06:06
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Test data for exomiser
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| #CHROM | POS | REF | ALT | QUAL | FILTER | GENOTYPE | HGVS | COVERAGE | FUNCTIONAL_CLASS | EXOMISER_GENE | EXOMISER_VARIANT_SCORE | EXOMISER_GENE_PHENO_SCORE | EXOMISER_GENE_VARIANT_SCORE | EXOMISER_GENE_COMBINED_SCORE | 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 | CONTRIBUTING_VARIANT | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 16057247 | C | G | 1458.03 | PASS | 1/1 | CLCNKB:ENST00000619181.4:c.1354C>G:p.(Pro452Ala) | 47 | missense_variant | CLCNKB | 0.894 | 0.62300086 | 0.894 | 0.8018639 | . | . | . | 0.894 | . | rs1057857 | 0 | . | . | . | . | . | . | . | . | . | . | CONTRIBUTING_VARIANT |
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