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This example
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This example shows findings from an assessment of ... a sequence rearrangement with the purpose of determining ... .
Glenn Barnes -
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the characteristics of a fusion event between the BRD4 and MYO10 genes. The identifier for the genome reference used to generate the reported result is shown in GFGENREF.
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variant impact classification, a categorization of the phenotypic or clinical significance of the genomic variation, caused by the predicted functional impact of the BRD4 and MYO10 sequence rearrangement. |
| | Row 2: | Shows the first gene, BRD4, involved in the fusion event. The designation (name or number) of the chromosome on which the variant appears is shown in GFCHROM. The published symbol for the gene of interest is shown in GFSYM. The description of the type of genomic entity that is represented by the published symbol in GFSYM is shown in GFSYMTYP as GENE WITH PROTEIN PRODUCT. The location within a sequence for the observed value in GFORRES is shown in GFGENLOC. | | Row 3: | Shows the second gene, MYO10, involved in the fusion event. The designation (name or number) of the chromosome on which the variant appears is shown in GFCHROM. The published symbol for the gene of interest is shown in GFSYM. The description of the type of genomic entity that is represented by the published symbol in GFSYM is shown in GFSYMTYP as GENE WITH PROTEIN PRODUCT. The location within a sequence for the observed value in GFORRES is shown in GFGENLOC. | | Row 4: | Shows the |
... characterization or classification of the structural changes to the genes as a consequence of the sequence rearrangement BRD4 and MYO10 genes. | | Row 5: | Shows the predicted effect of the sequence rearrangement on the original reading frames of the |
... .BRD4 and MYO10 genes. | | Row 6: | Shows the |
... | read depth, the total number of times the locus of the fusion event was sequenced. |
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| Row | STUDYID | DOMAIN | USUBJID | GFSEQ | GFGRPID | GFREFID | GFTESTCD | GFTEST | GFTSTDTL | GFORRES | GFORRESU | GFSTRESC | GFSTRESN | GFSTRESU | GFGENREF | GFCHROM | GFSYM | GFSYMTYP | GFGENLOC | GFXFN | GFNAM | GFSPEC | GFMETHOD | VISITNUM | VISIT | VISITDY | GFDTC | GFDY | | 1 | GR123 | GF | 10000 | 111 | 1 | TRF001338 | (TBD)SEQREAR | Sequence Rearrangement | VARIANT REARRANGEMENT IMPACT CLASSIFICATION | likely pathogenic |
| likely pathogenic |
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| GRCh37.75 |
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| /compbio/analysis/120718_SN855_0084_AD13D5ACXX_LCNL-361/sampleAnalysis/sample18.TRF001338.01/TRF001338.01.vars.final.xml | ACME XYZ | DNA | TARGETED GENOME SEQUENCING | 1 | SCREENING | 1 | 2022-01-25 | 2 | | 2 | GR123 | GF | 10000 | 122 | 1 | TRF001338 | (TBD)SEQREAR | Sequence Rearrangement | "REARRANGEMENT PARTNER GENE 1" | BRD4 |
| BRD4 |
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| GRCh37.75 | 19 | BRD4 | GENE WITH PROTEIN PRODUCT | 15383893-15384049 | /compbio/analysis/120718_SN855_0084_AD13D5ACXX_LCNL-361/sampleAnalysis/sample18.TRF001338.01/TRF001338.01.vars.final.xml | ACME XYZ | DNA | TARGETED GENOME SEQUENCING | 1 | SCREENING | 1 | 2022-01-25 | 2 | | 3 | GR123 | GF | 10000 | 133 | 1 | TRF001338 | (TBD)SEQREAR | Sequence Rearrangement | "REARRANGEMENT PARTNER GENE 2" | MYO10 |
| MYO10 |
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| GRCh37.75 | 5 | MYO10 | GENE WITH PROTEIN PRODUCT | 16724239-16724557 | /compbio/analysis/120718_SN855_0084_AD13D5ACXX_LCNL-361/sampleAnalysis/sample18.TRF001338.01/TRF001338.01.vars.final.xml | ACME XYZ | DNA | TARGETED GENOME SEQUENCING | 1 | SCREENING | 1 | 2022-01-25 | 2 | | 4 | GR123 | GF | 10000 | 144 | 1 | TRF001338 | (TBD)SEQREAR | Sequence Rearrangement | "VARIANT DESCRIPTION" REARRANGEMENT TYPE | truncation |
| truncation |
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| GRCh37.75 |
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| /compbio/analysis/120718_SN855_0084_AD13D5ACXX_LCNL-361/sampleAnalysis/sample18.TRF001338.01/TRF001338.01.vars.final.xml | ACME XYZ | DNA | TARGETED GENOME SEQUENCING | 1 | SCREENING | 1 | 2022-01-25 | 2 | | 5 | GR123 | GF | 10000 | 155 | 1 | TRF001338 | (TBD)SEQREAR | Sequence Rearrangement | " PREDICTED IN-FRAME "INDICATOR | unknown |
| unknown |
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| GRCh37.75 |
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| /compbio/analysis/120718_SN855_0084_AD13D5ACXX_LCNL-361/sampleAnalysis/sample18.TRF001338.01/TRF001338.01.vars.final.xml | ACME XYZ | DNA | TARGETED GENOME SEQUENCING | 1 | SCREENING | 1 | 2022-01-25 | 2 | | 6 | GR123 | GF | 10000 | 166 | 1 | TRF001338 | (TBD)SEQREAR | Sequence Rearrangement | READ DEPTH | 45 |
| 45 | 45 |
| GRCh37.75 |
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| /compbio/analysis/120718_SN855_0084_AD13D5ACXX_LCNL-361/sampleAnalysis/sample18.TRF001338.01/TRF001338.01.vars.final.xml | ACME XYZ | DNA | TARGETED GENOME SEQUENCING | 1 | SCREENING | 1 | 2022-01-25 | 2 |
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