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This example shows findings from an assessment of a genomic sequence rearrangement with the purpose of determining 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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| Row 1: | Shows the predicted variant impact on expression of the BRD4 and MYO10 genes caused by the |
genomic sequence rearrangement. | | Row 2: | Shows the first gene, BRD4, involved in the fusion event. The designation (name or number) of the chromosome or contig 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 or contig 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 |
description of the genomic rearrangement's disruption of the characterization or classification of the structural changes to the genes as a consequence of the rearrangement BRD4 and MYO10 genes. | | Row 5: | Shows the effect of the genomic rearrangement on the reading frame of the BRD4 and MYO10 fusion gene products. | | 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 IMPACT CLASSIFICATION | likely |
| likely |
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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) | 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) | 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) | 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) | 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) | 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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