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add germline to structural variant table and model
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sheridancbio committed Jan 18, 2022
1 parent 6d7e5f4 commit e55e602
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Showing 22 changed files with 143 additions and 107 deletions.
Original file line number Diff line number Diff line change
Expand Up @@ -80,7 +80,8 @@ public static void addStructuralVariantToBulkLoader(StructuralVariant structural
"CLASS",
"LENGTH",
"COMMENTS",
"EXTERNAL_ANNOTATION"
"EXTERNAL_ANNOTATION",
"IS_GERMLINE",
};
bl.setFieldNames(fieldNames);

Expand Down Expand Up @@ -121,7 +122,9 @@ public static void addStructuralVariantToBulkLoader(StructuralVariant structural
structuralVariant.getVariantClass(),
Integer.toString(structuralVariant.getLength()),
structuralVariant.getComments(),
structuralVariant.getExternalAnnotation());
structuralVariant.getExternalAnnotation(),
Integer.toString(structuralVariant.getIsGermline()?1:0));
//TODO: fix this ... the value must be converted to an integer

if ((structuralVariant.getDriverFilter() != null
&& !structuralVariant.getDriverFilter().isEmpty()
Expand Down Expand Up @@ -237,6 +240,7 @@ private static StructuralVariant extractStructuralVariant(ResultSet rs) throws S
structuralVariant.setDriverFilterAnn(rs.getString("DRIVER_FILTER_ANNOTATION"));
structuralVariant.setDriverTiersFilter(rs.getString("DRIVER_TIERS_FILTER"));
structuralVariant.setDriverTiersFilterAnn(rs.getString("DRIVER_TIERS_FILTER_ANNOTATION"));
structuralVariant.setIsGermline(rs.getBoolean("IS_GERMLINE"));
return structuralVariant;
}
}
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Original file line number Diff line number Diff line change
Expand Up @@ -69,14 +69,14 @@ public class StructuralVariant {
private String driverFilterAnn;
private String driverTiersFilter;
private String driverTiersFilterAnn;
private Boolean isGermline;

public long getInternalId() {
return internalId;
}
public void setInternalId(long internalId) {
this.internalId = internalId;
}

public int getGeneticProfileId() {
return geneticProfileId;
}
Expand Down Expand Up @@ -335,4 +335,10 @@ public String getDriverTiersFilterAnn() {
public void setDriverTiersFilterAnn(String driverTiersFilterAnn) {
this.driverTiersFilterAnn = driverTiersFilterAnn;
}
public Boolean getIsGermline() {
return isGermline;
}
public void setIsGermline(Boolean isGermline) {
this.isGermline = isGermline;
}
}
Original file line number Diff line number Diff line change
Expand Up @@ -83,6 +83,7 @@ public class StructuralVariantUtil {
public static final String DRIVER_FILTER_ANNOTATION = "cbp_driver_annotation";
public static final String DRIVER_TIERS_FILTER = "cbp_driver_tiers";
public static final String DRIVER_TIERS_FILTER_ANNOTATION = "cbp_driver_tiers_annotation";
public static final String IS_GERMLINE = "is_germline";

public StructuralVariantUtil(){}

Expand Down Expand Up @@ -139,6 +140,7 @@ public StructuralVariant parseStructuralVariantRecord(String[] parts) {
structuralVariant.setDriverFilterAnn(TabDelimitedFileUtil.getPartString(getColumnIndex(StructuralVariantUtil.DRIVER_FILTER_ANNOTATION), parts));
structuralVariant.setDriverTiersFilter(TabDelimitedFileUtil.getPartString(getColumnIndex(StructuralVariantUtil.DRIVER_TIERS_FILTER), parts));
structuralVariant.setDriverTiersFilterAnn(TabDelimitedFileUtil.getPartString(getColumnIndex(StructuralVariantUtil.DRIVER_TIERS_FILTER_ANNOTATION), parts));
structuralVariant.setIsGermline(TabDelimitedFileUtil.getPartInt(getColumnIndex(StructuralVariantUtil.IS_GERMLINE), parts) != 0);
return structuralVariant;
}

Expand Down
7 changes: 2 additions & 5 deletions core/src/main/scripts/importer/validateData.py
Original file line number Diff line number Diff line change
Expand Up @@ -3105,6 +3105,8 @@ def checkNCBIbuild(ncbi_build):
extra={'line_number': self.line_number,
'cause': '%s and %s' % (self.ncbi_build, ncbi_build)})

# TODO: discuss what that actual requirement are for different categories of structural variants. We now allow records which are germline cnv events referencing only a single gene for instance. Is that a third category or not?

def checkFusionValues(self, data):
"""Check if all values are present for a fusion event"""

Expand Down Expand Up @@ -3163,11 +3165,6 @@ def checkExonPresence(self, exon, column_name):
site1_entrez_gene_id = checkPresenceValue('Site1_Entrez_Gene_Id', self, data)
self.checkGeneIdentification(site1_hugo_symbol, site1_entrez_gene_id)

# Parse Hugo Symbol and Entrez Gene Id and check them for Site 2
site2_hugo_symbol = checkPresenceValue('Site2_Hugo_Symbol', self, data)
site2_entrez_gene_id = checkPresenceValue('Site2_Entrez_Gene_Id', self, data)
self.checkGeneIdentification(site2_hugo_symbol, site2_entrez_gene_id)

# Validate fusion events if Event_Info is 'Fusion'
if data[self.cols.index('Event_Info')] == 'Fusion':
checkFusionValues(self, data)
Expand Down
Original file line number Diff line number Diff line change
Expand Up @@ -10,6 +10,7 @@
public class TestStructuralVariantUtil {
private StructuralVariantUtil structuralVariantUtil = new StructuralVariantUtil();

//TODO: the set of required fields has shrunk to just [Site1EntrezGeneId or <<Site1HugoSymbol>>] ... but also, sampleId is needed??
@Test
public void testValidStructuralVariantRecordWithCompleteGeneTranscriptInfo() {
// confirm that record meets minimum requirements for import
Expand Down
6 changes: 3 additions & 3 deletions core/src/test/resources/data_structural_variants.txt
Original file line number Diff line number Diff line change
@@ -1,3 +1,3 @@
Sample_ID Site1_Entrez_Gene_Id Site1_Hugo_Symbol Site1_Ensembl_Transcript_Id Site1_Exon Site1_Chromosome Site1_Position Site1_Description Site2_Entrez_Gene_Id Site2_Hugo_Symbol Site2_Ensembl_Transcript_Id Site2_Exon Site2_Chromosome Site2_Position Site2_Description Site2_Effect_On_Frame NCBI_Build DNA_Support RNA_Support Normal_Read_Count Tumor_Read_Count Normal_Variant_Count Tumor_Variant_Count Normal_Paired_End_Read_Count Tumor_Paired_End_Read_Count Normal_Split_Read_Count Tumor_Split_Read_Count Annotation Breakpoint_Type Center Connection_Type Event_Info Class Length Comments External_Annotation cbp_driver cbp_driver_annotation cbp_driver_tiers cbp_driver_tiers_annotation
TCGA-A1-A0SB-01 NA KIAA1549 ENST00000242365 15 7 138536968 KIAA1549-BRAF.K16B10.COSF509_1 NA BRAF ENST00000288602 10 7 140482957 KIAA1549-BRAF.K16B10.COSF509_2 NA GRCh37 no yes NA 1000 NA 900 NA NA NA NA KIAA1549-BRAF.K16B10.COSF509 NA NA NA Fusion NA NA Gain-of-Function COSMIC:COSF509 NA NA NA NA
TCGA-A1-A0SD-01 NA EML4 ENST00000318522 13 2 42522656 EML4-ALK.E13A20.AB462411_1 NA ALK ENST00000389048 20 2 29446335 EML4-ALK.E13A20.AB462411_2 NA GRCh37 no yes NA 1006 NA 300 NA NA NA NA EML4-ALK.E13A20 NA NA NA Fusion NA NA Gain-of-Function GENBANK:AB462411 NA NA NA NA
Sample_ID Site1_Entrez_Gene_Id Site1_Hugo_Symbol Site1_Ensembl_Transcript_Id Site1_Exon Site1_Chromosome Site1_Position Site1_Description Site2_Entrez_Gene_Id Site2_Hugo_Symbol Site2_Ensembl_Transcript_Id Site2_Exon Site2_Chromosome Site2_Position Site2_Description Site2_Effect_On_Frame NCBI_Build DNA_Support RNA_Support Normal_Read_Count Tumor_Read_Count Normal_Variant_Count Tumor_Variant_Count Normal_Paired_End_Read_Count Tumor_Paired_End_Read_Count Normal_Split_Read_Count Tumor_Split_Read_Count Annotation Breakpoint_Type Center Connection_Type Event_Info Class Length Comments External_Annotation cbp_driver cbp_driver_annotation cbp_driver_tiers cbp_driver_tiers_annotation is_germline
TCGA-A1-A0SB-01 NA KIAA1549 ENST00000242365 15 7 138536968 KIAA1549-BRAF.K16B10.COSF509_1 NA BRAF ENST00000288602 10 7 140482957 KIAA1549-BRAF.K16B10.COSF509_2 NA GRCh37 no yes NA 1000 NA 900 NA NA NA NA KIAA1549-BRAF.K16B10.COSF509 NA NA NA Fusion NA NA Gain-of-Function COSMIC:COSF509 NA NA NA NA 0
TCGA-A1-A0SD-01 NA EML4 ENST00000318522 13 2 42522656 EML4-ALK.E13A20.AB462411_1 NA ALK ENST00000389048 20 2 29446335 EML4-ALK.E13A20.AB462411_2 NA GRCh37 no yes NA 1006 NA 300 NA NA NA NA EML4-ALK.E13A20 NA NA NA Fusion NA NA Gain-of-Function GENBANK:AB462411 NA NA NA NA 0
Original file line number Diff line number Diff line change
@@ -1,8 +1,8 @@
Sample_ID Site1_Entrez_Gene_Id Site1_Hugo_Symbol Site1_Ensembl_Transcript_Id Site1_Exon Site1_Chromosome Site1_Position Site1_Description Site2_Entrez_Gene_Id Site2_Hugo_Symbol Site2_Ensembl_Transcript_Id Site2_Exon Site2_Chromosome Site2_Position Site2_Description Site2_Effect_On_Frame NCBI_Build DNA_Support RNA_Support Normal_Read_Count Tumor_Read_Count Normal_Variant_Count Tumor_Variant_Count Normal_Paired_End_Read_Count Tumor_Paired_End_Read_Count Normal_Split_Read_Count Tumor_Split_Read_Count Annotation Breakpoint_Type Center Connection_Type Event_Info Class Length Comments External_Annotation cbp_driver cbp_driver_annotation cbp_driver_tiers cbp_driver_tiers_annotation
TCGA-A2-A04P-01 NA KIAA1549 ENST00000242365 1500 7 138536968 KIAA1549-BRAF.K16B10.COSF509_1 NA BRAF ENST00000288602 10 7 140482957 KIAA1549-BRAF.K16B10.COSF509_2 NA GRCh37 no yes NA 1000 NA 900 NA NA NA NA KIAA1549-BRAF.K16B10.COSF509 NA NA NA Fusion NA NA Gain-of-Function COSMIC:COSF509 NA NA NA NA
TCGA-A2-A04P-01 NA NCOA4 ENST00000344348 7 10 51582939 NCOA4-RET.N7R12_1 NA RET ENST00000340058 12 10 43612031 NCOA4-RET.N7R12_2 NA GRCh37 no yes NA 1001 NA 800 NA NA NA NA NCOA4-RET.N7R1 NA NA NA Fusion NA NA Gain-of-Function NA NA NA NA NA
TCGA-A2-A04P-01 NA EML4 ENST00000318522 6 2 42492091 EML4-ALK.E6bA20.AB374362_1 NA ALK ENST00000389048 2000 2 29446394 EML4-ALK.E6bA20.AB374362_2 NA GRCh37 no yes NA 1002 NA 700 NA NA NA NA EML4-ALK.E6bA20.AB374362 NA NA NA Fusion NA NA Gain-of-Function GENBANK:AB374362 NA NA NA NA
TCGA-A2-A04P-01 NA TMPRSS2 ENST00000332149 1 21 42880007 TMPRSS2-ERG.T1E2.COSF23.1_1 NA ERG ENST00000442448 2 21 39956869 TMPRSS2-ERG.T1E2.COSF23.1_2 NA GRCh37 no yes NA 1003 NA 600 NA NA NA NA TMPRSS2-ERG.T1E2.COSF23.1 NA NA NA Fusion NA NA Gain-of-Function COSMIC:COSF23 NA NA NA NA
TCGA-A2-A04P-01 NA EGFR ENST00000275493 1 7 55087058 EGFR-EGFR.E1E8.DelPositive.1_1 NA EGFR ENST00000275493 8 7 55223522 EGFR-EGFR.E1E8.DelPositive.1_2 NA GRCh37 no yes NA 1004 NA 500 NA NA NA NA EGFR-EGFR.E1E8.DelPositive NA NA NA Fusion NA NA NA NA NA NA NA NA
TCGA-A2-A04P-01 NA ALK ENST00000389048 11 2 29497964 ALK-PTPN3.A11P3_1 NA PTPN3 ENST00000374541 3 9 112219679 ALK-PTPN3.A11P3_2 NA GRCh37 no yes NA 1005 NA 400 NA NA NA NA ALK-PTPN3.A11P3 NA NA NA Fusion NA NA NA NA NA NA NA NA
TCGA-A1-A0SB-01 NA EML4 ENST00000318522 13 2 42522656 EML4-ALK.E13A20.AB462411_1 NA ALK ENST00000389048 20 2 29446335 EML4-ALK.E13A20.AB462411_2 NA GRCh37 no yes NA 1006 NA 300 NA NA NA NA EML4-ALK.E13A20 NA NA NA Fusion NA NA Gain-of-Function GENBANK:AB462411 NA NA NA NA
Sample_ID Site1_Entrez_Gene_Id Site1_Hugo_Symbol Site1_Ensembl_Transcript_Id Site1_Exon Site1_Chromosome Site1_Position Site1_Description Site2_Entrez_Gene_Id Site2_Hugo_Symbol Site2_Ensembl_Transcript_Id Site2_Exon Site2_Chromosome Site2_Position Site2_Description Site2_Effect_On_Frame NCBI_Build DNA_Support RNA_Support Normal_Read_Count Tumor_Read_Count Normal_Variant_Count Tumor_Variant_Count Normal_Paired_End_Read_Count Tumor_Paired_End_Read_Count Normal_Split_Read_Count Tumor_Split_Read_Count Annotation Breakpoint_Type Center Connection_Type Event_Info Class Length Comments External_Annotation cbp_driver cbp_driver_annotation cbp_driver_tiers cbp_driver_tiers_annotation is_germline
TCGA-A2-A04P-01 NA KIAA1549 ENST00000242365 1500 7 138536968 KIAA1549-BRAF.K16B10.COSF509_1 NA BRAF ENST00000288602 10 7 140482957 KIAA1549-BRAF.K16B10.COSF509_2 NA GRCh37 no yes NA 1000 NA 900 NA NA NA NA KIAA1549-BRAF.K16B10.COSF509 NA NA NA Fusion NA NA Gain-of-Function COSMIC:COSF509 NA NA NA NA 0
TCGA-A2-A04P-01 NA NCOA4 ENST00000344348 7 10 51582939 NCOA4-RET.N7R12_1 NA RET ENST00000340058 12 10 43612031 NCOA4-RET.N7R12_2 NA GRCh37 no yes NA 1001 NA 800 NA NA NA NA NCOA4-RET.N7R1 NA NA NA Fusion NA NA Gain-of-Function NA NA NA NA NA 0
TCGA-A2-A04P-01 NA EML4 ENST00000318522 6 2 42492091 EML4-ALK.E6bA20.AB374362_1 NA ALK ENST00000389048 2000 2 29446394 EML4-ALK.E6bA20.AB374362_2 NA GRCh37 no yes NA 1002 NA 700 NA NA NA NA EML4-ALK.E6bA20.AB374362 NA NA NA Fusion NA NA Gain-of-Function GENBANK:AB374362 NA NA NA NA 0
TCGA-A2-A04P-01 NA TMPRSS2 ENST00000332149 1 21 42880007 TMPRSS2-ERG.T1E2.COSF23.1_1 NA ERG ENST00000442448 2 21 39956869 TMPRSS2-ERG.T1E2.COSF23.1_2 NA GRCh37 no yes NA 1003 NA 600 NA NA NA NA TMPRSS2-ERG.T1E2.COSF23.1 NA NA NA Fusion NA NA Gain-of-Function COSMIC:COSF23 NA NA NA NA 0
TCGA-A2-A04P-01 NA EGFR ENST00000275493 1 7 55087058 EGFR-EGFR.E1E8.DelPositive.1_1 NA EGFR ENST00000275493 8 7 55223522 EGFR-EGFR.E1E8.DelPositive.1_2 NA GRCh37 no yes NA 1004 NA 500 NA NA NA NA EGFR-EGFR.E1E8.DelPositive NA NA NA Fusion NA NA NA NA NA NA NA NA 0
TCGA-A2-A04P-01 NA ALK ENST00000389048 11 2 29497964 ALK-PTPN3.A11P3_1 NA PTPN3 ENST00000374541 3 9 112219679 ALK-PTPN3.A11P3_2 NA GRCh37 no yes NA 1005 NA 400 NA NA NA NA ALK-PTPN3.A11P3 NA NA NA Fusion NA NA NA NA NA NA NA NA 0
TCGA-A1-A0SB-01 NA EML4 ENST00000318522 13 2 42522656 EML4-ALK.E13A20.AB462411_1 NA ALK ENST00000389048 20 2 29446335 EML4-ALK.E13A20.AB462411_2 NA GRCh37 no yes NA 1006 NA 300 NA NA NA NA EML4-ALK.E13A20 NA NA NA Fusion NA NA Gain-of-Function GENBANK:AB462411 NA NA NA NA 0
Original file line number Diff line number Diff line change
@@ -1,8 +1,8 @@
Sample_ID Site1_Entrez_Gene_Id Site1_Hugo_Symbol Site1_Chromosome Site1_Position Site1_Description Site2_Entrez_Gene_Id Site2_Hugo_Symbol Site2_Chromosome Site2_Position Site2_Description Site2_Effect_On_Frame NCBI_Build DNA_Support RNA_Support Normal_Read_Count Tumor_Read_Count Normal_Variant_Count Tumor_Variant_Count Normal_Paired_End_Read_Count Tumor_Paired_End_Read_Count Normal_Split_Read_Count Tumor_Split_Read_Count Annotation Breakpoint_Type Center Connection_Type Event_Info Class Length Comments External_Annotation cbp_driver cbp_driver_annotation cbp_driver_tiers cbp_driver_tiers_annotation
TCGA-A2-A04P-01 NA KIAA1549 7 138536968 KIAA1549-BRAF.K16B10.COSF509_1 NA BRAF 7 140482957 KIAA1549-BRAF.K16B10.COSF509_2 NA GRCh37 no yes NA 1000 NA 900 NA NA NA NA KIAA1549-BRAF.K16B10.COSF509 NA NA NA Fusion NA NA Gain-of-Function COSMIC:COSF509 NA NA NA NA
TCGA-A2-A04P-01 NA NCOA4 10 51582939 NCOA4-RET.N7R12_1 NA RET 10 43612031 NCOA4-RET.N7R12_2 NA GRCh37 no yes NA 1001 NA 800 NA NA NA NA NCOA4-RET.N7R1 NA NA NA Fusion NA NA Gain-of-Function NA NA NA NA NA
TCGA-A2-A04P-01 NA EML4 2 42492091 EML4-ALK.E6bA20.AB374362_1 NA ALK 2 29446394 EML4-ALK.E6bA20.AB374362_2 NA GRCh37 no yes NA 1002 NA 700 NA NA NA NA EML4-ALK.E6bA20.AB374362 NA NA NA Fusion NA NA Gain-of-Function GENBANK:AB374362 NA NA NA NA
TCGA-A2-A04P-01 NA TMPRSS2 21 42880007 TMPRSS2-ERG.T1E2.COSF23.1_1 NA ERG 21 39956869 TMPRSS2-ERG.T1E2.COSF23.1_2 NA GRCh37 no yes NA 1003 NA 600 NA NA NA NA TMPRSS2-ERG.T1E2.COSF23.1 NA NA NA Fusion NA NA Gain-of-Function COSMIC:COSF23 NA NA NA NA
TCGA-A2-A04P-01 NA EGFR 7 55087058 EGFR-EGFR.E1E8.DelPositive.1_1 NA EGFR 7 55223522 EGFR-EGFR.E1E8.DelPositive.1_2 NA GRCh37 no yes NA 1004 NA 500 NA NA NA NA EGFR-EGFR.E1E8.DelPositive NA NA NA Fusion NA NA NA NA NA NA NA NA
TCGA-A2-A04P-01 NA ALK 2 29497964 ALK-PTPN3.A11P3_1 NA PTPN3 9 112219679 ALK-PTPN3.A11P3_2 NA GRCh37 no yes NA 1005 NA 400 NA NA NA NA ALK-PTPN3.A11P3 NA NA NA Fusion NA NA NA NA NA NA NA NA
TCGA-A1-A0SB-01 NA EML4 2 42522656 EML4-ALK.E13A20.AB462411_1 NA ALK 2 29446335 EML4-ALK.E13A20.AB462411_2 NA GRCh37 no yes NA 1006 NA 300 NA NA NA NA EML4-ALK.E13A20 NA NA NA Fusion NA NA Gain-of-Function GENBANK:AB462411 NA NA NA NA
Sample_ID Site1_Entrez_Gene_Id Site1_Hugo_Symbol Site1_Chromosome Site1_Position Site1_Description Site2_Entrez_Gene_Id Site2_Hugo_Symbol Site2_Chromosome Site2_Position Site2_Description Site2_Effect_On_Frame NCBI_Build DNA_Support RNA_Support Normal_Read_Count Tumor_Read_Count Normal_Variant_Count Tumor_Variant_Count Normal_Paired_End_Read_Count Tumor_Paired_End_Read_Count Normal_Split_Read_Count Tumor_Split_Read_Count Annotation Breakpoint_Type Center Connection_Type Event_Info Class Length Comments External_Annotation cbp_driver cbp_driver_annotation cbp_driver_tiers cbp_driver_tiers_annotation is_germline
TCGA-A2-A04P-01 NA KIAA1549 7 138536968 KIAA1549-BRAF.K16B10.COSF509_1 NA BRAF 7 140482957 KIAA1549-BRAF.K16B10.COSF509_2 NA GRCh37 no yes NA 1000 NA 900 NA NA NA NA KIAA1549-BRAF.K16B10.COSF509 NA NA NA Fusion NA NA Gain-of-Function COSMIC:COSF509 NA NA NA NA 0
TCGA-A2-A04P-01 NA NCOA4 10 51582939 NCOA4-RET.N7R12_1 NA RET 10 43612031 NCOA4-RET.N7R12_2 NA GRCh37 no yes NA 1001 NA 800 NA NA NA NA NCOA4-RET.N7R1 NA NA NA Fusion NA NA Gain-of-Function NA NA NA NA NA 0
TCGA-A2-A04P-01 NA EML4 2 42492091 EML4-ALK.E6bA20.AB374362_1 NA ALK 2 29446394 EML4-ALK.E6bA20.AB374362_2 NA GRCh37 no yes NA 1002 NA 700 NA NA NA NA EML4-ALK.E6bA20.AB374362 NA NA NA Fusion NA NA Gain-of-Function GENBANK:AB374362 NA NA NA NA 0
TCGA-A2-A04P-01 NA TMPRSS2 21 42880007 TMPRSS2-ERG.T1E2.COSF23.1_1 NA ERG 21 39956869 TMPRSS2-ERG.T1E2.COSF23.1_2 NA GRCh37 no yes NA 1003 NA 600 NA NA NA NA TMPRSS2-ERG.T1E2.COSF23.1 NA NA NA Fusion NA NA Gain-of-Function COSMIC:COSF23 NA NA NA NA 0
TCGA-A2-A04P-01 NA EGFR 7 55087058 EGFR-EGFR.E1E8.DelPositive.1_1 NA EGFR 7 55223522 EGFR-EGFR.E1E8.DelPositive.1_2 NA GRCh37 no yes NA 1004 NA 500 NA NA NA NA EGFR-EGFR.E1E8.DelPositive NA NA NA Fusion NA NA NA NA NA NA NA NA 0
TCGA-A2-A04P-01 NA ALK 2 29497964 ALK-PTPN3.A11P3_1 NA PTPN3 9 112219679 ALK-PTPN3.A11P3_2 NA GRCh37 no yes NA 1005 NA 400 NA NA NA NA ALK-PTPN3.A11P3 NA NA NA Fusion NA NA NA NA NA NA NA NA 0
TCGA-A1-A0SB-01 NA EML4 2 42522656 EML4-ALK.E13A20.AB462411_1 NA ALK 2 29446335 EML4-ALK.E13A20.AB462411_2 NA GRCh37 no yes NA 1006 NA 300 NA NA NA NA EML4-ALK.E13A20 NA NA NA Fusion NA NA Gain-of-Function GENBANK:AB462411 NA NA NA NA 0
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