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PDMR Database User Guide
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Patient
Patient Specimen
Sample (PDX or In Vitro Culture)
Distribution Lots
Genomic Analysis
Reports
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Sample
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Patient ID
997537
Open Patient
Specimen ID
175-T
Open Specimen
Sample ID
HP1G72
Disease Body Location
Digestive/Gastrointestinal
OncoTree Code
COAD
CTEP SDC Code
10009951 - Adenocarcinoma - colon
PDM Type
PDX
Tissue Type
Tumor Biopsy
Patient/Originating
Specimen
Yes
No
Passage of this Sample
1
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
75%
15%
10%
2+ (Moderate)
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:
2.0.1.50.0
Whole Exome FASTQ (*.FASTQ.gz; for paired-end sequence, download both files)
Download Read1 FASTQ
Download Read2 FASTQ
Ver:
1.2
RNASeq FASTQ (*.FASTQ.gz; for paired-end sequence, download both files)
Download Read1 FASTQ
Download Read2 FASTQ
Ver:
1.2
RNASeq Transcripts per Million (TPM; *.RSEM.genes.results and *.RSEM.isoforms.results tab-delimited text file)
Download RSEM (genes)
Download RSEM (isoforms)
Ver:
2.0.1.4.0
OncoKB Gene Panel
View
Hugo
Symbol
HGVS Protein
Change
Variant Allele
Frequency
Total
Reads
Variant
Class
Oncogenicity
Predicted
Functional Effect
OncoKB
Version
ATM
p.K2811Sfs*46
0.4839
124
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v3.14
ATR
p.I774Yfs*5
0.5615
130
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v3.14
BRAF
p.V600E
0.4658
73
Missense_Mutation
Oncogenic
Gain-of-function
v3.14
BRCA2
p.T3085Qfs*19
0.5463
205
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v3.14
CDKN1B
p.D63Rfs*62
0.6533
473
Frame_Shift_Ins
Likely Oncogenic
Likely Loss-of-function
v3.14
CREBBP
p.K1565Rfs*70
0.5367
218
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v3.14
EPHA7
p.X33_splice
0.5333
105
Splice_Site
Likely Oncogenic
Likely Loss-of-function
v3.14
FAT1
p.X3402_splice
0.5064
156
Splice_Site
Likely Oncogenic
Likely Loss-of-function
v3.14
FAT1
p.N126Kfs*3
0.5137
438
Frame_Shift_Ins
Likely Oncogenic
Likely Loss-of-function
v3.14
HNF1A
p.P291Qfs*51
0.6732
410
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v3.14
JAK1
p.P861Tfs*4
0.4644
267
Frame_Shift_Ins
Likely Oncogenic
Likely Loss-of-function
v3.14
KMT2C
p.K2797Rfs*26
1.0000
99
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v3.14
KMT2D
p.Q2109Afs*46
0.2731
260
Frame_Shift_Ins
Likely Oncogenic
Likely Loss-of-function
v3.14
MSH3
p.K383Rfs*32
1.0000
92
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v3.14
PHOX2B
p.G268Afs*41
0.5119
168
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v3.14
PIK3R1
p.R461*
0.6716
67
Nonsense_Mutation
Likely Oncogenic
Likely Loss-of-function
v3.14
PTEN
p.L57Wfs*42
0.5536
56
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v3.14
PTEN
p.K267Rfs*9
0.4532
139
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v3.14
RAD50
p.K722Rfs*14
0.5350
286
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v3.14
RECQL
p.V41Sfs*2
0.3310
287
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v3.14
RNF43
p.G659Vfs*41
0.5069
217
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v3.14
RNF43
p.R117Pfs*8
0.9876
161
Frame_Shift_Ins
Likely Oncogenic
Likely Loss-of-function
v3.14
SESN2
p.Q229Rfs*18
0.5110
227
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v3.14
SOX9
p.*510Lext*49
0.4857
175
Nonstop_Mutation
Likely Oncogenic
Likely Loss-of-function
v3.14
SPEN
p.A2105Lfs*33
0.5297
202
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v3.14
SPEN
p.P2461Hfs*15
0.4672
381
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v3.14
TP53
p.R273C
0.5747
87
Missense_Mutation
Likely Oncogenic
Likely Loss-of-function
v3.14
FANCL
p.Q99Rfs*17
0.5033
306
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v3.14
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