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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
397859
Open Patient
Specimen ID
316-R
Open Specimen
Sample ID
ORIGINATOR
Disease Body Location
Breast
OncoTree Code
IDC
CTEP SDC Code
10006190 - Invasive breast carcinoma
PDM Type
Patient/Originator Specimen
Tissue Type
Resection
Patient/Originating
Specimen
Yes
No
Passage of this Sample
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
40%
0%
60%
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:
2.0.2.51.0
Whole Exome FASTQ (*.FASTQ.gz; for paired-end sequence, download both files)
Download Read1 FASTQ
Download Read2 FASTQ
Ver:
2.0.2.51.0
RNASeq FASTQ (*.FASTQ.gz; for paired-end sequence, download both files)
Download Read1 FASTQ
Download Read2 FASTQ
Ver:
2.0.2.16.0
RNASeq Transcripts per Million (TPM; *.RSEM.genes.results and *.RSEM.isoforms.results tab-delimited text file)
Download RSEM (genes)
Download RSEM (isoforms)
Ver:
2.0.2.16.0
OncoKB Gene Panel
View
Hugo
Symbol
HGVS Protein
Change
Variant Allele
Frequency
Total
Reads
Variant
Class
Oncogenicity
Predicted
Functional Effect
OncoKB
Version
APC
p.N2624Gfs*21
0.1000
100
Frame_Shift_Ins
Likely Oncogenic
Likely Loss-of-function
v4.0
APC
p.T2626Ffs*13
0.0982
112
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.0
ARID1A
p.T2060Ifs*38
0.0679
427
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.0
ARID1A
p.Y2076Ifs*23
0.0754
464
Frame_Shift_Ins
Likely Oncogenic
Likely Loss-of-function
v4.0
ARID1B
p.S40Vfs*192
0.1084
203
Frame_Shift_Ins
Likely Oncogenic
Likely Loss-of-function
v4.0
ARID1B
p.S41Rfs*28
0.1073
205
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.0
ARID1B
p.L208Hfs*22
0.2200
50
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.0
ARID1B
p.T210Sfs*56
0.2000
50
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.0
ARID2
p.Q1835*
0.1553
103
Nonsense_Mutation
Likely Oncogenic
Likely Loss-of-function
v4.0
ARID4A
p.X1071_splice
0.9626
107
Splice_Site
Likely Oncogenic
Likely Loss-of-function
v4.0
ARID4B
p.E550Gfs*6
0.0816
380
Frame_Shift_Ins
Likely Oncogenic
Likely Loss-of-function
v4.0
ATP6V1B2
p.Y371F
0.1603
131
Missense_Mutation
Likely Oncogenic
Likely Loss-of-function
v4.0
BCL11B
p.L370Nfs*24
0.1525
118
Frame_Shift_Ins
Likely Oncogenic
Likely Loss-of-function
v4.0
BCL11B
p.E369Afs*147
0.1488
121
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.0
BCOR
p.Q1248Pfs*47
0.0735
408
Frame_Shift_Ins
Likely Oncogenic
Likely Loss-of-function
v4.0
BCOR
p.I1246Tfs*5
0.0764
419
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.0
BCOR
p.D1226Efs*18
0.1013
316
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.0
BCOR
p.D1226Efs*13
0.1049
305
Frame_Shift_Ins
Likely Oncogenic
Likely Loss-of-function
v4.0
BCOR
p.D169Gfs*17
0.1149
261
Frame_Shift_Ins
Likely Oncogenic
Likely Loss-of-function
v4.0
BCOR
p.A165Gfs*51
0.1221
262
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.0
BTG1
p.E93Rfs*9
0.1111
270
Frame_Shift_Ins
Likely Oncogenic
Likely Loss-of-function
v4.0
BTG1
p.Q92Rfs*52
0.1159
276
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.0
CDK12
p.F1376Sfs*5
0.0917
338
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.0
CDK12
p.G1456Tfs*44
0.1000
240
Frame_Shift_Ins
Likely Oncogenic
Likely Loss-of-function
v4.0
CDK12
p.G1456Afs*56
0.1000
240
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.0
CEBPA
p.G101Rfs*6
0.1342
149
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.0
CEBPA
p.T98Afs*61
0.1402
164
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.0
DUSP4
p.A358Dfs*91
0.1746
126
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.0
DUSP4
p.P357Tfs*67
0.1789
123
Frame_Shift_Ins
Likely Oncogenic
Likely Loss-of-function
v4.0
FBXO11
p.L912Rfs*9
0.1184
304
Frame_Shift_Ins
Likely Oncogenic
Likely Loss-of-function
v4.0
FBXO11
p.T911Nfs*9
0.1331
323
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.0
FOXO1
p.P139Rfs*63
0.1376
109
Frame_Shift_Ins
Likely Oncogenic
Likely Loss-of-function
v4.0
FOXO1
p.A140Sfs*195
0.1250
104
Frame_Shift_Ins
Likely Oncogenic
Likely Loss-of-function
v4.0
HLA-A
p.D140Rfs*36
1.0000
3
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.0
HLA-A
p.A141Lfs*11
1.0000
3
Frame_Shift_Ins
Likely Oncogenic
Likely Loss-of-function
v4.0
KDM5C
p.T1228Lfs*71
0.1344
372
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.0
KDM5C
p.P1227Lfs*38
0.1316
380
Frame_Shift_Ins
Likely Oncogenic
Likely Loss-of-function
v4.0
KMT2D
p.S2312Wfs*13
0.1730
289
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.0
KMT2D
p.S2312Afs*11
0.1753
291
Frame_Shift_Ins
Likely Oncogenic
Likely Loss-of-function
v4.0
LATS2
p.P38Qfs*26
0.0769
286
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.0
LATS2
p.V34Rfs*30
0.0746
295
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.0
LATS2
p.V34Tfs*12
0.0759
290
Frame_Shift_Ins
Likely Oncogenic
Likely Loss-of-function
v4.0
LZTR1
p.R21Lfs*12
0.0598
468
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.0
MGA
p.A51*
0.1167
120
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.0
MGA
p.S52*
0.1034
116
Frame_Shift_Ins
Likely Oncogenic
Likely Loss-of-function
v4.0
MGA
p.A2917Gfs*7
0.0762
105
Frame_Shift_Ins
Likely Oncogenic
Likely Loss-of-function
v4.0
MGA
p.E2918Qfs*16
0.0833
108
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.0
MGA
-
0.1818
44
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.0
NSD1
p.S1937Qfs*8
0.1101
109
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.0
NSD1
p.K1938Afs*32
0.1009
109
Frame_Shift_Ins
Likely Oncogenic
Likely Loss-of-function
v4.0
PHF6
p.S158*
0.0809
136
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.0
PIK3CA
p.Q546K
0.3333
189
Missense_Mutation
Oncogenic
Gain-of-function
v4.0
PTCH1
p.R1342Afs*30
0.0893
224
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.0
PTCH1
p.A43Pfs*37
0.1414
99
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.0
PTCH1
p.A42Cfs*47
0.1400
100
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.0
PTCH1
p.G29Afs*50
0.1250
80
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.0
PTPN2
p.Q411Hfs*17
0.0435
253
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.0
PTPRD
p.D657Qfs*25
0.1233
365
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.0
PTPRD
p.D657Lfs*32
0.1236
364
Frame_Shift_Ins
Likely Oncogenic
Likely Loss-of-function
v4.0
RAD51
p.R235Qfs*27
0.1500
20
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.0
RB1
p.F839Sfs*10
1.0000
51
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.0
TP53
p.I195N
0.9917
484
Missense_Mutation
Likely Oncogenic
Likely Loss-of-function
v4.0
TP53BP1
p.I738Sfs*3
0.0905
221
Frame_Shift_Ins
Likely Oncogenic
Likely Loss-of-function
v4.0
TP53BP1
p.L736Cfs*4
0.0922
217
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.0
TP53BP1
p.L736Vfs*5
0.0930
215
Frame_Shift_Ins
Likely Oncogenic
Likely Loss-of-function
v4.0
ZFHX3
p.P3605Rfs*90
0.1529
170
Frame_Shift_Ins
Likely Oncogenic
Likely Loss-of-function
v4.0
ZFHX3
p.A3604Pfs*61
0.1600
175
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.0
ZFHX3
p.H508Rfs*9
0.1048
105
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.0
ZFHX3
p.H508Sfs*29
0.1100
100
Frame_Shift_Ins
Likely Oncogenic
Likely Loss-of-function
v4.0
ZFHX3
p.S383Rfs*71
0.1238
323
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.0
ZFHX3
p.G382Vfs*15
0.1265
324
Frame_Shift_Ins
Likely Oncogenic
Likely Loss-of-function
v4.0
Export
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