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Patient
Patient Specimen
Sample (PDX or In Vitro Culture)
Distribution Lots
Genomic Analysis
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Sample
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Patient ID
253963
Open Patient
Specimen ID
270-R
Open Specimen
Sample ID
HP0A57C76F03
Disease Body Location
Breast
OncoTree Code
BRCNOS
CTEP SDC Code
10006190 - Invasive breast carcinoma
PDM Type
PDX
Tissue Type
Resection
Patient/Originating
Specimen
Yes
No
Passage of this Sample
3
Sample
Notes
Pathology Data (if available)
Pathology Data
View
Tumor
Grade
Tumor
Content
Necrosis
Stromal
Inflammatory
Cells
Low Magnification Image
High Magnification Image
High grade or poorly differentiated
80%
15%
5%
Absent/No Inflammation
Export
Genomic Analysis
External Genetic Analysis Data
A data file is available if a Download link is displayed:
Somatic Mutations Associated with Cancer (*.vcf and *.maf)
Whole Exome Sequencing (*.vcf)
Download
Ver:
2.0.4.51.0
Whole Exome FASTQ (*.FASTQ.gz; for paired-end sequence, download both files)
Download Read1 FASTQ
Download Read2 FASTQ
Ver:
2.0.4.51.0
RNASeq FASTQ (*.FASTQ.gz; for paired-end sequence, download both files)
Download Read1 FASTQ
Download Read2 FASTQ
Ver:
2.0.4.21.0
RNASeq Transcripts per Million (TPM; *.RSEM.genes.results and *.RSEM.isoforms.results tab-delimited text file)
Download RSEM (genes)
Download RSEM (isoforms)
Ver:
2.0.4.21.0
OncoKB Gene Panel
View
Hugo
Symbol
HGVS Protein
Change
Variant Allele
Frequency
Total
Reads
Variant
Class
Oncogenicity
Predicted
Functional Effect
OncoKB
Version
BRCA2
p.S2835P
1.0000
37
Missense_Mutation
Inconclusive
Inconclusive
v4.26
DICER1
p.N998Ifs*3
0.3299
288
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.26
ERRFI1
-
0.2632
38
Splice_Site
Likely Oncogenic
Likely Loss-of-function
v4.26
KDM5C
p.V1075Rfs*69
0.2956
389
Frame_Shift_Del
Likely Oncogenic
Loss-of-function
v4.26
KMT2C
p.X338_splice
0.0814
799
Splice_Site
Likely Oncogenic
Likely Loss-of-function
v4.26
NOTCH1
p.V1671I
1.0000
67
Missense_Mutation
Likely Oncogenic
Likely Gain-of-function
v4.26
TP53
p.F109Wfs*41
1.0000
40
Frame_Shift_Ins
Likely Oncogenic
Likely Loss-of-function
v4.26
TSC2
p.S1774T
1.0000
865
Missense_Mutation
Likely Neutral
Likely Neutral
v4.26
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