SNP6 Copy number analysis (GISTIC2)
Brain Lower Grade Glioma (Primary solid tumor)
15 July 2014  |  analyses__2014_07_15
Maintainer Information
Citation Information
Maintained by Dan DiCara (Broad Institute)
Cite as Broad Institute TCGA Genome Data Analysis Center (2014): SNP6 Copy number analysis (GISTIC2). Broad Institute of MIT and Harvard. doi:10.7908/C1WM1C5H
Overview
Introduction

GISTIC identifies genomic regions that are significantly gained or lost across a set of tumors. The pipeline first filters out normal samples from the segmented copy-number data by inspecting the TCGA barcodes and then executes GISTIC version 2.0.21 (Firehose task version: 127).

Summary

There were 512 tumor samples used in this analysis: 23 significant arm-level results, 21 significant focal amplifications, and 29 significant focal deletions were found.

Results
Focal results

Figure 1.  Genomic positions of amplified regions: the X-axis represents the normalized amplification signals (top) and significance by Q value (bottom). The green line represents the significance cutoff at Q value=0.25.

Table 1.  Get Full Table Amplifications Table - 21 significant amplifications found. Click the link in the last column to view a comprehensive list of candidate genes. If no genes were identified within the peak, the nearest gene appears in brackets.

Cytoband Q value Residual Q value Wide Peak Boundaries # Genes in Wide Peak
7p11.2 7.1512e-60 7.1512e-60 chr7:54942676-55107468 1
12q14.1 9.1459e-40 9.1459e-40 chr12:58125396-58158557 5
4q12 1.0245e-18 1.0245e-18 chr4:55120558-55190896 1
1q32.1 2.2522e-17 7.8977e-17 chr1:204283821-204614474 6
8q24.13 8.3592e-17 8.3592e-17 chr8:113123519-137884262 103
12p13.32 3.4668e-16 3.4668e-16 chr12:3978957-4110296 1
7q32.3 1.7375e-11 2.4712e-08 chr7:130150706-131420712 10
17q25.1 1.4741e-05 1.4741e-05 chr17:73270907-74122446 32
10p15.3 2.0061e-05 2.0061e-05 chr10:1-5762547 35
11q24.1 0.00010328 0.00010328 chr11:118703193-127178762 123
19p13.3 0.00024134 0.00028609 chr19:713557-827048 7
3q26.33 0.0013824 0.0013824 chr3:177831608-184510375 55
Xp11.22 4.5064e-05 0.0018762 chrX:53703571-54011926 2
13q34 0.0023751 0.0023751 chr13:108614305-111603996 13
Xp11.22 0.00016292 0.012449 chrX:53705366-66746742 53
7q31.2 1.5689e-07 0.014134 chr7:100101918-157112330 459
2p24.3 0.026217 0.026217 chr2:16009712-16358714 2
1q22 0.030376 0.040337 chr1:156063604-157059892 39
19p13.2 0.066384 0.085185 chr19:7296453-7398264 0 [INSR]
15q26.3 0.19623 0.19623 chr15:76568580-102531392 222
9q34.3 0.21742 0.21742 chr9:126542729-141213431 303
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 7p11.2.

Table S1.  Genes in bold are cancer genes as defined by The Sanger Institute: Cancer Gene Census[7].

Genes
EGFR
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 12q14.1.

Table S2.  Genes in bold are cancer genes as defined by The Sanger Institute: Cancer Gene Census[7].

Genes
CDK4
CYP27B1
TSPAN31
MARCH9
AGAP2
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 4q12.

Table S3.  Genes in bold are cancer genes as defined by The Sanger Institute: Cancer Gene Census[7].

Genes
PDGFRA
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 1q32.1.

Table S4.  Genes in bold are cancer genes as defined by The Sanger Institute: Cancer Gene Census[7].

Genes
MDM4
PIK3C2B
LRRN2
PLEKHA6
PPP1R15B
LOC127841
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 8q24.13.

Table S5.  Genes in bold are cancer genes as defined by The Sanger Institute: Cancer Gene Census[7].

Genes
EXT1
MYC
hsa-mir-30d
hsa-mir-1208
hsa-mir-1207
hsa-mir-1205
hsa-mir-1204
hsa-mir-548d-1
hsa-mir-2053
ADCY8
ANXA13
HAS2
KCNQ3
NDUFB9
NOV
TNFRSF11B
ENPP2
POU5F1B
PVT1
RAD21
ST3GAL1
SLA
SNTB1
SQLE
TAF2
TG
TRPS1
COL14A1
EIF3H
WISP1
MTSS1
KIAA0196
HHLA1
TRIB1
NDRG1
COLEC10
KHDRBS3
RNF139
ZHX1
ZHX2
EFR3A
LRRC6
MTBP
MRPL13
ATAD2
ASAP1-IT1
ASAP1
PHF20L1
FAM49B
TRMT12
WDYHV1
GSDMC
ZFAT
DEPTOR
DSCC1
DERL1
TATDN1
UTP23
C8orf76
FAM83A
MED30
WDR67
HPYR1
MAL2
CSMD3
FBXO32
ZNF572
TMEM71
TMEM65
LOC157381
FAM84B
FAM91A1
SLC30A8
NSMCE2
LOC286094
KLHL38
SAMD12
MIR30B
MIR30D
FER1L6-AS1
C8orf85
SAMD12-AS1
ZFAT-AS1
HAS2-AS1
RAD21-AS1
FER1L6
LOC727677
LOC728724
OC90
LOC100130231
LOC100131726
MIR1205
MIR1206
MIR1207
MIR1204
MIR2053
MIR1208
MIR3610
LOC100507117
ZHX1-C8ORF76
MIR4663
PCAT1
LINC00536
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 12p13.32.

Table S6.  Genes in bold are cancer genes as defined by The Sanger Institute: Cancer Gene Census[7].

Genes
PARP11
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 7q32.3.

Table S7.  Genes in bold are cancer genes as defined by The Sanger Institute: Cancer Gene Census[7].

Genes
hsa-mir-29b-1
MKLN1
PODXL
COPG2
TSGA13
KLF14
FLJ43663
MIR29A
MIR29B1
LOC646329
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 17q25.1.

Table S8.  Genes in bold are cancer genes as defined by The Sanger Institute: Cancer Gene Census[7].

Genes
ACOX1
CDK3
EVPL
GALK1
GRB2
H3F3B
ITGB4
LLGL2
SRP68
GALR2
RECQL5
KIAA0195
EXOC7
WBP2
SAP30BP
CASKIN2
SLC25A19
MRPL38
MYO15B
FBF1
UNK
TRIM47
TRIM65
UNC13D
TSEN54
ZACN
C17orf109
C17orf110
TEN1
MIR3678
TEN1-CDK3
MIR4738
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 10p15.3.

Table S9.  Genes in bold are cancer genes as defined by The Sanger Institute: Cancer Gene Census[7].

Genes
ADARB2
CALML3
AKR1C4
KLF6
AKR1C1
AKR1C2
IDI1
PFKP
AKR1C3
NET1
PITRM1
ZMYND11
WDR37
DIP2C
LARP4B
GTPBP4
CALML5
FAM208B
IDI2-AS1
ASB13
TUBAL3
AKR1E2
IDI2
UCN3
LOC282980
LOC338588
AKR1CL1
TUBB8
tAKR
LINC00200
LOC399708
C10orf108
ADARB2-AS1
LOC100216001
LOC100507034
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 11q24.1.

Table S10.  Genes in bold are cancer genes as defined by The Sanger Institute: Cancer Gene Census[7].

Genes
CBL
ARHGEF12
hsa-mir-3167
hsa-mir-100
ACRV1
CXCR5
CHEK1
DPAGT1
SLC37A4
GRIK4
H2AFX
HMBS
HSPA8
STT3A
VWA5A
MCAM
NRGN
PVRL1
RPS25
SC5DL
ST3GAL4
SORL1
SRPR
TECTA
THY1
UPK2
ZNF202
USP2
EI24
FEZ1
C2CD2L
HYOU1
VSIG2
TRIM29
POU2F3
HINFP
OR8G2
OR8B8
OR8G1
OR8B2
DCPS
DDX25
CDON
TRAPPC4
SPA17
SIAE
ROBO4
FOXRED1
SCN3B
VPS11
CRTAM
GRAMD1B
PKNOX2
ABCG4
ROBO3
RNF26
FAM118B
NLRX1
C11orf61
CLMP
PDZD3
C11orf63
CCDC15
PUS3
MFRP
KIRREL3
RPUSD4
TBRG1
UBASH3B
ESAM
TIRAP
C1QTNF5
PANX3
PATE1
HYLS1
TMEM218
SLC37A2
OR8B12
OR8G5
OR10G8
OR10G9
OR10S1
OR6T1
OR4D5
TBCEL
TMEM136
HEPACAM
OAF
BCL9L
FOXR1
CCDC153
OR8D1
OR8D2
OR8B4
KIRREL3-AS3
CCDC84
TMEM225
OR8D4
LOC341056
BSX
OR6X1
OR6M1
OR10G4
OR10G7
OR8B3
OR8A1
MIR100HG
PATE2
PATE4
FLJ39051
MIRLET7A2
MIR100
MIR125B1
BLID
HEPN1
LOC649133
RPL23AP64
PATE3
MIR3167
LOC100499227
MIR3656
MIR4493
MIR4492
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 19p13.3.

Table S11.  Genes in bold are cancer genes as defined by The Sanger Institute: Cancer Gene Census[7].

Genes
hsa-mir-3187
PALM
PTBP1
LPPR3
C19orf21
MIR3187
MIR4745
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 3q26.33.

Table S12.  Genes in bold are cancer genes as defined by The Sanger Institute: Cancer Gene Census[7].

Genes
PIK3CA
SOX2
hsa-mir-1224
ACTL6A
AP2M1
CLCN2
DVL3
EIF4G1
EPHB3
NDUFB5
POLR2H
PSMD2
THPO
FXR1
CHRD
EIF2B5
USP13
ECE2
ABCC5
ALG3
KCNMB2
MCF2L2
ATP11B
LAMP3
KCNMB3
ZNF639
PEX5L
DCUN1D1
KLHL24
ABCF3
PARL
MFN1
YEATS2
MCCC1
MRPL47
GNB4
MAGEF1
ZMAT3
MAP6D1
B3GNT5
KLHL6
VWA5B2
CAMK2N2
DNAJC19
FAM131A
TTC14
HTR3C
HTR3D
HTR3E
CCDC39
SOX2-OT
FLJ46066
SNORD66
MIR1224
LOC100505687
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for Xp11.22.

Table S13.  Genes in bold are cancer genes as defined by The Sanger Institute: Cancer Gene Census[7].

Genes
HUWE1
PHF8
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 13q34.

Table S14.  Genes in bold are cancer genes as defined by The Sanger Institute: Cancer Gene Census[7].

Genes
COL4A1
COL4A2
ING1
LIG4
IRS2
TNFSF13B
MYO16
ANKRD10
RAB20
CARKD
CARS2
ABHD13
LINC00346
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for Xp11.22.

Table S15.  Genes in bold are cancer genes as defined by The Sanger Institute: Cancer Gene Census[7].

Genes
MSN
hsa-mir-223
hsa-mir-1468
ALAS2
FGD1
PFKFB1
TRO
ZXDA
HEPH
HUWE1
RRAGB
MAGED2
KLF8
VSIG4
PHF8
ARHGEF9
APEX2
MAGEH1
UBQLN2
SPIN2A
GNL3L
FAM120C
MTMR8
ZC4H2
EDA2R
WNK3
LAS1L
FRMD8P1
TSR2
FAM104B
PAGE5
LOC92249
FAM123B
FOXR2
PAGE3
SPIN4
ASB12
FAAH2
ZXDB
USP51
SPIN3
PAGE2
ZC3H12B
ITIH6
PAGE2B
MIR223
UQCRBP1
SPIN2B
LOC550643
SNORA11
MIR1468
MTRNR2L10
MIR4536-1
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 7q31.2.

Table S16.  Genes in bold are cancer genes as defined by The Sanger Institute: Cancer Gene Census[7].

Genes
BRAF
EZH2
MET
SMO
KIAA1549
MLL3
CREB3L2
hsa-mir-671
hsa-mir-1975
hsa-mir-548f-4
hsa-mir-490
hsa-mir-29b-1
hsa-mir-335
hsa-mir-183
hsa-mir-129-1
hsa-mir-593
hsa-mir-592
hsa-mir-548o
hsa-mir-4285
ABP1
ACHE
AKR1B1
ARF5
OPN1SW
BPGM
CALD1
CALU
CAPZA2
CASP2
CAV1
CAV2
CDK5
CFTR
CHRM2
AP1S1
CLCN1
CPA1
CPA2
CUX1
DLD
DPP6
SLC26A3
EN2
EPHA1
EPHB4
EPHB6
EPO
FLNC
GBX1
GNB2
GPR22
GPR37
GRM8
MNX1
AGFG2
HTR5A
IFRD1
IMPDH1
INSIG1
IRF5
KCND2
KCNH2
KEL
LAMB1
LEP
LRCH4
DNAJB9
MEST
MKLN1
NDUFA5
NDUFB2
NOS3
CNOT4
NRCAM
NRF1
ORC5
SERPINE1
PAX4
PCOLCE
SLC26A4
PIK3CG
PIP
PODXL
POLR2J
PPP1R3A
PRKAR2B
PRSS1
PRSS2
RELN
PSMC2
TAS2R38
PTN
PTPRZ1
RARRES2
RHEB
SHH
SLC4A2
SLC13A1
SMARCD3
SPAM1
AKR1D1
SRPK2
SSBP1
SYPL1
TBXAS1
TFR2
TRIP6
UBE2H
VGF
ZAN
WNT2
XRCC2
ZYX
ST7
ARHGEF5
ZNF212
ZNF282
CUL1
TRIM24
MGAM
WASL
PLOD3
DGKI
ATP6V1F
ACCN3
PMPCB
PDIA4
UBE3C
FAM131B
DOCK4
FAM115A
ABCF2
MUC12
NAMPT
RASA4
AASS
LRRC17
POP7
FAM3C
COG5
ZNHIT1
SH2B2
FASTK
DUS4L
ZNF277
ABCB8
TFEC
LAMB4
PAXIP1
KLHDC10
SSPO
NUP205
AHCYL2
TNPO3
HYAL4
TSPAN12
CLEC5A
MKRN1
CLDN15
POT1
CNTNAP2
HYALP1
TES
GIMAP2
OR2F1
FBXO24
SLC13A4
COPG2
HBP1
DNAJC2
TPK1
SND1
SND1-IT1
DENND2A
ZNF777
TMEM176B
HIPK2
WDR91
REPIN1
HILPDA
MDFIC
FSCN3
ATP6V0A4
PNPLA8
TAS2R3
TAS2R4
TAS2R16
FIS1
CPA4
WNT16
ACTL6B
PRKAG2
ZC3HC1
SRRT
LUC7L2
MRPS33
NUB1
NAA38
GPR85
TAS2R5
CHPF2
PUS7
ING3
LRRN3
ALKBH4
CHCHD3
RBM28
TMEM140
GIMAP4
GIMAP5
TMEM176A
TRPV6
AGK
METTL2B
MLL5
BCAP29
TRPV5
ANKRD7
ZC3HAV1
SLC12A9
AKR1B10
ACTR3B
KIAA1147
FAM40B
ZNF398
EXOC4
RINT1
GALNT11
LRRC4
LMBR1
TMEM168
LINC00244
NOM1
MOSPD3
GIGYF1
CCDC136
PARP12
RABL5
LRRC61
C7orf49
GCC1
PRKRIP1
CBLL1
ZNF767
C7orf58
TTC26
ORAI2
JHDM1D
TRIM56
TMUB1
ARMC10
IMMP2L
CTTNBP2
SLC37A3
KRBA1
FAM71F1
SLC35B4
TMEM209
OR6W1P
ADCK2
PLXNA4
ZC3HAV1L
MYL10
LOC93432
ST7-AS1
ST7-AS2
ST7-OT3
CADPS2
CPA5
FOXP2
CEP41
C7orf29
TSGA13
AGAP3
C7orf13
OR9A4
OR9A2
C7orf34
TMEM139
NOBOX
OR2A14
OR6B1
OR2F2
ZNF786
EMID2
PRSS37
KLF14
C7orf45
SVOPL
MTPN
LRGUK
ASB10
PRSS58
ASZ1
MUC17
RNF32
ASB15
C7orf60
TRY6
LOC154761
CLEC2L
C7orf55
LOC154860
IQUB
LOC154872
C7orf66
TMEM213
GIMAP8
CRYGN
ZNF425
LOC155060
ZNF746
ATP6V0E2
RBM33
MGC27345
GALNTL5
RNF133
THAP5
CCDC71L
GIMAP7
ZNF467
ZNF800
GIMAP1
LOC202781
C7orf33
FABP5P3
LRWD1
FAM185A
FBXL13
NAPEPLD
ATXN7L1
CDHR3
POLR2J2
UBN2
TAS2R39
TAS2R40
TAS2R41
CNPY1
LOC285889
FLJ40852
LOC285965
FAM115C
ZNF775
LOC285972
ATG9B
LOC286002
C7orf53
TPI1P2
FLJ40288
MESTIT1
ST7-OT4
TAS2R60
CTAGE6P
TSPAN33
AGBL3
OR6V1
OR2A12
OR2A1
MOGAT3
FAM71F2
STRA8
KLRG2
WDR86
DPY19L2P2
LOC349160
GSTK1
NAT16
SLC26A5
LHFPL3
KCP
FLJ43663
RNF148
FEZF1
FAM180A
OR2A25
OR2A5
LOC401397
PRRT4
RAB19
OR2A7
OR2A20P
LOC401431
OR2A42
FLJ45340
UFSP1
MIR129-1
MIR182
MIR183
MIR29A
MIR29B1
MIR96
LOC407835
SPDYE2
AKR1B15
CTAGE15P
OR2A9P
OR2A2
EIF3IP1
LMOD2
MIR335
ARHGEF35
GIMAP6
WEE2
POLR2J3
MIR490
ZNF862
LOC645249
LOC645591
LOC646329
C7orf73
ACTR3C
MIR592
MIR593
LOC723809
LOC728377
LOC728743
SPDYE6
TMEM229A
LOC730441
LUZP6
MIR671
LOC100124692
LOC100128264
CTAGE4
LOC100128822
LOC100129148
RPL19P12
LOC100129845
LOC100130705
EFCAB10
LOC100130880
LOC100131176
LOC100132707
LOC100134229
LOC100134713
UPK3BL
LOC100216545
LOC100216546
LOC100287482
MOXD2P
LOC100289561
ZNF783
MIR548F3
MIR548I4
SPDYE2L
MIR548F4
SAP25
MIR548T
MIR4285
MTRNR2L6
MIR3907
MIR3666
LOC100505483
LOC100507421
GIMAP1-GIMAP5
MIR4653
MIR4468
MIR4467
LOC100630923
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 2p24.3.

Table S17.  Genes in bold are cancer genes as defined by The Sanger Institute: Cancer Gene Census[7].

Genes
MYCN
MYCNOS
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 1q22.

Table S18.  Genes in bold are cancer genes as defined by The Sanger Institute: Cancer Gene Census[7].

Genes
NTRK1
PRCC
hsa-mir-765
hsa-mir-9-1
BGLAP
CRABP2
HDGF
INSRR
LMNA
MEF2D
CCT3
SH2D2A
SLC25A44
ARHGEF11
C1orf61
NES
PMF1
SMG5
RRNAD1
GPATCH4
RHBG
HAPLN2
BCAN
SEMA4A
MRPL24
PAQR6
ISG20L2
TMEM79
C1orf85
C1orf182
IQGAP3
APOA1BP
LRRC71
TTC24
PEAR1
VHLL
MIR9-1
MIR765
PMF1-BGLAP
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 15q26.3.

Table S19.  Genes in bold are cancer genes as defined by The Sanger Institute: Cancer Gene Census[7].

Genes
BLM
IDH2
NTRK3
CRTC3
hsa-mir-1302-10
hsa-mir-1469
hsa-mir-3175
hsa-mir-3174
hsa-mir-9-3
hsa-mir-7-2
hsa-mir-1276
hsa-mir-549
hsa-mir-184
ACAN
ALDH1A3
ANPEP
BCL2A1
BNC1
CHD2
CHRNA3
CHRNA5
CHRNB4
CRABP1
CTSH
ETFA
FAH
FES
IDH3A
IGF1R
IL16
IREB2
ISG20
MAN2A2
MEF2A
MFGE8
NMB
FURIN
PCSK6
PDE8A
PLIN1
POLG
PSMA4
RASGRF1
RCN2
RLBP1
RPS17
SH3GL3
SNRPA1
NR2F2
AP3B2
ST8SIA2
PEX11A
IQGAP1
PSTPIP1
PRC1
SLC28A1
HOMER2
ZNF592
SV2B
ARNT2
TSPAN3
AP3S2
HMG20A
SEMA4B
CIB2
CIB1
MTHFS
MORF4L1
ABHD2
ADAMTS7
AKAP13
CHSY1
TBC1D2B
MESDC2
ACSBG1
KIAA1024
SYNM
TMED3
SEC11A
GABARAPL3
VPS33B
MRPL46
OR4F4
SLCO3A1
SCAPER
HDGFRP3
NGRN
RHCG
BTBD1
TM6SF1
ZFAND6
SCAND2
ZSCAN2
DET1
LINS
FANCI
DNAJA4
MCTP2
SELS
MESP1
UNC45A
RGMA
WDR93
ADAMTSL3
KIAA1199
ALPK3
FAM108C1
MESDC1
KLHL25
CPEB1
AEN
ISL2
TTC23
MRPS11
EFTUD1
LRRK1
PEAK1
AGSK1
TM2D3
WDR61
STARD5
C15orf5
FAM103A1
MEX3B
LINGO1
WDR73
C15orf42
RCCD1
LOC91450
ARRDC4
LOC91948
C15orf40
TARSL2
LRRC28
AGBL1
AGPHD1
WHAMM
FSD2
ASB7
LYSMD4
PGPEP1L
LOC145820
C15orf32
HAPLN3
MESP2
SPATA8
LINC00052
C15orf26
ADAMTS17
DNM1P46
CERS3
LOC253044
LOC254559
C15orf37
LOC283688
LOC283692
LOC283693
FAM154B
LOC283738
LOC283761
FAM169B
LOC338963
TMC3
ZNF774
C15orf38
GOLGA6L5
KIF7
ZNF710
HDDC3
WASH3P
LOC388152
UBE2Q2P1
FLJ42289
ANKRD34C
C15orf58
OR4F6
OR4F15
LOC390660
ST20
FAM174B
LOC400456
MIR184
MIR7-2
MIR9-3
GOLGA6L9
LOC440297
DNM1P41
LOC440300
TTLL13
LOC645752
SH2D7
LOC646938
GOLGA6L10
LOC648809
SCARNA15
MIR549
LOC727849
LOC727915
ASB9P1
LOC729911
FAM138E
UBE2Q2P3
UBE2Q2P2
LOC100144604
GPCRLTM7
DDX11L1
DDX11L9
MIR1276
MIR1179
MIR1469
MIR3175
RPS17L
LOC100505679
LOC100506874
LOC100507217
LOC100507472
C15orf38-AP3S2
ST20-MTHFS
MIR4514
MIR3529
MIR4515
MIR4714
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 9q34.3.

Table S20.  Genes in bold are cancer genes as defined by The Sanger Institute: Cancer Gene Census[7].

Genes
ABL1
NOTCH1
RALGDS
SET
TSC1
BRD3
NUP214
FNBP1
hsa-mir-602
hsa-mir-4292
hsa-mir-126
hsa-mir-219-2
hsa-mir-3154
hsa-mir-2861
hsa-mir-181b-2
ABCA2
ABO
AK1
ASS1
C8G
CACNA1B
CCBL1
ENTPD2
CDK9
CEL
CELP
COL5A1
CRAT
DBH
SARDH
DNM1
TOR1A
ENDOG
ENG
FCN1
FCN2
FPGS
NR5A1
FUT7
NR6A1
GLE1
GOLGA1
GOLGA2
RAPGEF1
GRIN1
HSPA5
LCN1
LCN2
LMX1B
ODF2
PAEP
PBX3
PPP2R4
PPP6C
PSMB7
PTGDS
RPL7A
RPL12
RXRA
SNAPC4
SPTAN1
STXBP1
SURF1
SURF2
SURF4
MED22
SURF6
TRAF2
TTF1
VAV2
ZNF79
LHX3
GFI1B
SSNA1
EDF1
DPM2
FUBP3
CLIC3
GTF3C5
GTF3C4
LHX2
MED27
PTGES
RALGPS1
ADAMTSL2
PPP1R26
SEC16A
SH2D3C
RABEPK
LAMC3
TUBB4B
UBAC1
OLFM1
ZER1
AGPAT2
POMT1
NEK6
SDCCAG3
NOXA1
USP20
SLC27A4
WDR5
C9orf9
ADAMTS13
C9orf7
SLC2A6
RPL35
MAN1B1
DOLK
SETX
ZBTB43
PMPCA
EXOSC2
NCS1
ANGPTL2
NUP188
CIZ1
COBRA1
NELF
GPSM1
DKFZP434A062
GAPVD1
GBGT1
SNORA65
SNORD62A
SNORD36C
SNORD36B
SNORD36A
SNORD24
TRUB2
ST6GALNAC4
NDOR1
TOR1B
TOR2A
METTL11A
PHPT1
ANAPC2
PKN3
DPP7
SLC2A8
OBP2B
OBP2A
ST6GALNAC6
MRPS2
COQ4
CERCAM
EGFL7
PRRX2
C9orf114
C9orf78
FBXW5
TBC1D13
C9orf167
EXD3
C9orf86
LRRC8A
INPP5E
NPDC1
BARHL1
SH3GLB2
REXO4
DOLPP1
KCNT1
DENND1A
GPR107
PRDM12
CARD9
DDX31
FAM129B
MRPL41
C9orf16
MAPKAP1
EHMT1
PTGES2
URM1
ARPC5L
AIF1L
UCK1
GARNL3
NTNG2
PRRC2B
PPAPDC3
ZDHHC12
FAM73B
FIBCD1
KIAA1984
SNHG7
TMEM141
C9orf37
FAM125B
WDR34
SAPCD2
C9orf69
LRSAM1
UAP1L1
ARRDC1
WDR85
TMEM203
SLC25A25
ZMYND19
NACC2
C9orf116
LCN8
FAM69B
PTRH1
PIP5KL1
ASB6
SLC34A3
CAMSAP1
C9orf163
MAMDC4
LCN6
AK8
TTC16
C9orf96
OLFML2A
QSOX2
NAIF1
PHYHD1
LINC00094
SCAI
C9orf117
LCN12
C9orf142
TPRN
FAM78A
GPR144
QRFP
GLT6D1
SWI5
C9orf50
PNPLA7
C9orf169
ENTPD8
LOC389791
IER5L
C9orf171
LCN15
C9orf172
LRRC26
TMEM8C
LCN9
FAM102A
WDR38
LOC401557
LCNL1
C9orf139
FAM166A
SOHLH1
ZBTB34
MIR126
MIR181A2
MIR181B2
MIR199B
MIR219-2
C9orf106
LCN10
C9orf173
NRARP
NRON
FAM163B
FLJ40292
TUBBP5
RNF224
SNORA17
SNORA43
SNORD62B
MIR602
RNF208
DNLZ
LOC100128593
LOC100129034
LOC100129722
LOC100130954
LOC100131193
FAM157B
RNU6ATAC
LOC100272217
LOC100289019
LOC100289341
MIR181A2HG
MIR4292
MIR3154
MIR2861
MIR3621
MIR3689A
MIR3911
MIR3689B
LOC100506100
LOC100506190
LOC100506599
MIR3689D1
MIR3689F
MIR4669
MIR4673
MIR3960
MIR4674
MIR3689C
MIR2964A
MIR3689D2
MIR4672
MIR3689E
MIR4479

Figure 2.  Genomic positions of deleted regions: the X-axis represents the normalized deletion signals (top) and significance by Q value (bottom). The green line represents the significance cutoff at Q value=0.25.

Table 2.  Get Full Table Deletions Table - 29 significant deletions found. Click the link in the last column to view a comprehensive list of candidate genes. If no genes were identified within the peak, the nearest gene appears in brackets.

Cytoband Q value Residual Q value Wide Peak Boundaries # Genes in Wide Peak
9p21.3 4.7216e-106 7.5058e-99 chr9:21865498-21997722 2
19q13.42 1.9167e-28 1.9167e-28 chr19:54037464-58050128 192
2q37.3 1.3053e-20 1.3053e-20 chr2:240317967-243199373 45
10q26.3 4.5945e-20 4.5945e-20 chr10:119963570-135534747 131
4q34.3 8.9832e-18 8.4109e-18 chr4:178911874-183246105 4
14q24.3 1.0693e-13 1.1135e-13 chr14:62199756-89633185 181
11p15.5 4.981e-13 4.9098e-13 chr11:2441018-2892511 2
Xq21.1 1.3798e-07 1.3788e-07 chrX:76710176-77102528 1
5q34 1.9155e-07 1.9155e-07 chr5:150319650-180915260 244
3q29 5.0559e-05 4.7646e-05 chr3:194502405-198022430 50
1p32.3 1.0769e-05 6.4952e-05 chr1:50879767-51569162 3
1p36.32 1.6092e-05 8.3843e-05 chr1:4484333-5625565 2
5p15.33 0.00032885 0.00033538 chr5:1-7397749 52
22q13.31 0.00042557 0.00041481 chr22:44391372-51304566 92
12q12 0.0011929 0.0012011 chr12:40011946-48176791 35
3p21.31 0.0014821 0.001456 chr3:41907780-54667435 253
18q23 0.0023622 0.0023098 chr18:74979706-78077248 12
13q14.2 5.1404e-09 0.0037337 chr13:44358188-86367939 131
6p25.3 0.0038424 0.0039384 chr6:1-2833738 13
13q14.2 1.2265e-08 0.0069041 chr13:45857667-60240001 81
1q43 0.012103 0.012066 chr1:232176307-249250621 139
9p23 7.0038e-14 0.025964 chr9:7799607-12693402 1
8q24.3 0.032876 0.031897 chr8:144382004-146364022 82
6q22.31 0.0069602 0.077725 chr6:107435382-171115067 364
7p22.3 0.07619 0.077725 chr7:1-4724321 43
13q34 0.025995 0.11267 chr13:114620052-115169878 4
12p13.1 0.13845 0.13949 chr12:12262379-14519594 28
15q21.3 0.23453 0.23453 chr15:1-65255703 470
6q24.3 0.0018288 0.50523 chr6:102517100-171115067 379
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 9p21.3.

Table S21.  Genes in bold are cancer genes as defined by The Sanger Institute: Cancer Gene Census[7].

Genes
CDKN2A
C9orf53
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 19q13.42.

Table S22.  Genes in bold are cancer genes as defined by The Sanger Institute: Cancer Gene Census[7].

Genes
TFPT
ZNF331
hsa-mir-1274b
hsa-mir-935
hsa-mir-373
hsa-mir-1283-2
FCAR
IL11
KIR2DL1
KIR2DL3
KIR2DL4
KIR2DS4
KIR3DL1
KIR3DL2
LAIR1
LAIR2
NDUFA3
CNOT3
PEG3
PRKCG
PTPRH
RPL28
RPS9
AURKC
SYT5
TNNI3
TNNT1
ZNF17
ZNF264
NCR1
LILRB2
TRAPPC2P1
ZNF460
LILRB1
LILRB5
LILRB4
LILRA1
LILRB3
LILRA3
LILRA2
U2AF2
PPP6R1
LILRA4
ZIM2
HSPBP1
PRPF31
UBE2S
CCDC106
EPN1
ZNF580
GP6
ZNF581
PPP1R12C
EPS8L1
ZNF444
NLRP2
NAT14
VN1R1
ZNF304
TTYH1
ZNF471
USP29
ZNF71
CACNG8
CACNG7
CACNG6
ZNF667
TSEN34
MBOAT7
ZSCAN5A
LENG1
LILRP2
LILRA6
ZNF419
ISOC2
BRSK1
SUV420H2
FIZ1
GALP
ZNF628
KIR3DX1
ZNF835
NLRP12
MYADM
LENG9
RDH13
ZIM3
LENG8
KIR3DL3
ZNF543
COX6B2
OSCAR
NLRP13
NLRP8
NLRP5
ZNF787
ZFP28
LOC147670
ZNF548
TMEM190
TMC4
ZNF524
ZNF784
NLRP4
ZNF542
ZNF582
ZNF583
CDC42EP5
ZNF579
NLRP7
NLRP11
TMEM86B
SSC5D
ZNF547
LOC284379
VSTM1
TMEM150B
FAM71E2
NLRP9
RFPL4A
ZSCAN5B
C19orf51
LILRA5
ZNF773
LOC386758
TMEM238
ZNF470
ZNF749
ZNF805
ZNF772
TARM1
MIR371A
MIR372
MIR373
DPRX
DUXA
MIR512-1
MIR512-2
MIR498
MIR520E
MIR515-1
MIR519E
MIR520F
MIR515-2
MIR519C
MIR520A
MIR526B
MIR519B
MIR525
MIR523
MIR518F
MIR520B
MIR518B
MIR526A1
MIR520C
MIR518C
MIR524
MIR517A
MIR519D
MIR521-2
MIR520D
MIR517B
MIR520G
MIR516B2
MIR526A2
MIR518E
MIR518A1
MIR518D
MIR516B1
MIR518A2
MIR517C
MIR520H
MIR521-1
MIR522
MIR519A1
MIR527
MIR516A1
MIR516A2
MIR519A2
SBK2
SHISA7
MIMT1
MIR935
LOC100128252
SGK110
PEG3-AS1
MIR1283-2
MIR1323
MIR1283-1
ZNF865
MIR4752
MIR371B
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 2q37.3.

Table S23.  Genes in bold are cancer genes as defined by The Sanger Institute: Cancer Gene Census[7].

Genes
hsa-mir-3133
hsa-mir-149
AGXT
KIF1A
BOK
DTYMK
GPC1
GPR35
HDLBP
NDUFA10
SEPT2
PDCD1
PPP1R7
FARP2
STK25
CAPN10
PASK
ATG4B
SNED1
ANO7
THAP4
ANKMY1
RNPEPL1
GAL3ST2
C2orf54
ING5
NEU4
MTERFD2
OTOS
MYEOV2
OR6B3
LOC150935
LOC200772
CXXC11
DUSP28
AQP12A
OR6B2
MIR149
PRR21
AQP12B
D2HGDH
LOC728323
PP14571
BOK-AS1
MIR4786
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 10q26.3.

Table S24.  Genes in bold are cancer genes as defined by The Sanger Institute: Cancer Gene Census[7].

Genes
FGFR2
DUX4
hsa-mir-202
hsa-mir-378c
hsa-mir-4297
hsa-mir-4296
ACADSB
ADAM8
BNIP3
CTBP2
CYP2E1
DMBT1
DOCK1
ECHS1
PRLHR
GPR26
GRK5
HMX2
INPP5A
MGMT
MKI67
OAT
HTRA1
PTPRE
RGS10
TIAL1
UROS
ADAM12
UTF1
EIF3A
BUB3
BAG3
FAM53B
GLRX3
DPYSL4
TACC2
TUBGCP2
PRDX3
ATE1
SEC23IP
INPP5F
FAM175B
C10orf137
DUX2
VENTX
CUZD1
CALY
CHST15
ZRANB1
TTC40
NSMCE4A
WDR11
DHX32
PPP2R2D
FAM45B
BCCIP
PLEKHA1
FAM204A
LHPP
IKZF5
MCMBP
C10orf88
LRRC27
GPR123
NKX6-2
KNDC1
MTG1
FANK1
SYCE1
PRAP1
ZNF511
C10orf90
BTBD16
FAM24A
PSTK
MMP21
CTAGE7P
CLRN3
SFXN4
CPXM2
C10orf46
C10orf91
PWWP2B
PPAPDC1A
PAOX
FAM24B
EBF3
TCERG1L
C10orf125
JAKMIP3
STK32C
LOC283038
LOC283089
NANOS1
HMX3
FLJ46361
ARMS2
C10orf122
LOC387723
NKX1-2
C10orf120
LOC399815
METTL10
FLJ37035
FOXI2
FLJ46300
LOC399829
SPRNP1
FAM45A
FRG2B
SPRN
MIR202
NPS
LOC619207
SNORA19
FAM196A
DUX4L7
DUX4L6
DUX4L5
DUX4L3
DUX4L2
LOC100169752
MIR378C
MIR4297
MIR4296
MIR3941
MIR3944
FAM24B-CUZD1
MIR4682
MIR4484
MIR4681
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 4q34.3.

Table S25.  Genes in bold are cancer genes as defined by The Sanger Institute: Cancer Gene Census[7].

Genes
hsa-mir-1305
MGC45800
LINC00290
MIR1305
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 14q24.3.

Table S26.  Genes in bold are cancer genes as defined by The Sanger Institute: Cancer Gene Census[7].

Genes
TSHR
GPHN
hsa-mir-1260
hsa-mir-625
hsa-mir-548h-1
ACTN1
ACYP1
ARG2
ZFP36L1
ENTPD5
DIO2
DLST
EIF2S1
ERH
ESR2
ESRRB
FNTB
FOS
FUT8
GALC
GPX2
GSTZ1
GTF2A1
HSPA2
LTBP2
MAX
MAP3K9
ALDH6A1
MTHFD1
PGF
PIGH
PPP2R5E
PSEN1
ABCD4
RAD51B
SEL1L
SRSF5
SLC8A3
SLC10A1
SNAPC1
SPTB
TGFB3
ZBTB25
DPF3
GPR65
NUMB
ADAM21
ADAM20
DCAF5
ALKBH1
EIF2B2
PNMA1
NRXN3
AKAP5
SPTLC2
RGS6
KIAA0247
KIAA0317
MED6
VTI1B
BATF
NPC2
AHSA1
ACOT2
TMED10
PTPN21
C14orf1
VASH1
ZBTB1
SNW1
PCNX
TTLL5
SYNE2
ANGEL1
ZFYVE26
TTC9
FLRT2
PLEKHG3
SIPA1L1
DCAF4
PLEK2
MLH3
KCNH5
POMT2
COQ6
FCF1
RDH11
COX16
ATP6V1D
ZFYVE1
KCNK10
EXD2
VRTN
SYNJ2BP
SLC39A9
FLVCR2
C14orf118
SPATA7
YLPM1
C14orf162
ADCK1
TMEM63C
RHOJ
GALNTL1
PLEKHH1
ZNF410
NGB
RBM25
C14orf133
SMOC1
IRF2BPL
MPP5
ZC2HC1C
C14orf169
ZC3H14
C14orf45
SGPP1
SLIRP
DNAL1
RPS6KL1
SYT16
STON2
KIAA1737
PAPLN
CHURC1
C14orf43
LIN52
NEK9
IFT43
WDR89
GPHB5
NOXRED1
JDP2
ISCA2
ACOT4
TTC8
RDH12
ADAM21P1
PPP1R36
LOC145474
PTGR2
FAM161B
C14orf166B
ISM2
CEP128
FAM71D
TMEM229B
SAMD15
EML5
PROX2
ZDHHC22
TMED8
C14orf178
LOC283585
LOC283587
C14orf55
SNORD56B
VSX2
RAB15
HEATR4
PLEKHD1
LINC00238
TEX21P
ACOT1
ACOT6
LOC645431
FLJ43390
SYNDIG1L
SNORA79
LOC731223
LOC100289511
MIR1260A
LOC100506321
SYNJ2BP-COX16
CHURC1-FNTB
MIR4505
MIR4708
MIR4709
MIR4706
LOC100628307
HIF1A-AS2
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 11p15.5.

Table S27.  Genes in bold are cancer genes as defined by The Sanger Institute: Cancer Gene Census[7].

Genes
KCNQ1
KCNQ1OT1
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for Xq21.1.

Table S28.  Genes in bold are cancer genes as defined by The Sanger Institute: Cancer Gene Census[7].

Genes
ATRX
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 5q34.

Table S29.  Genes in bold are cancer genes as defined by The Sanger Institute: Cancer Gene Census[7].

Genes
EBF1
ITK
NPM1
TLX3
NSD1
RANBP17
hsa-mir-340
hsa-mir-1229
hsa-mir-4281
hsa-mir-1271
hsa-mir-585
hsa-mir-218-2
hsa-mir-103-1-as
hsa-mir-146a
hsa-mir-3142
hsa-mir-1303
hsa-mir-3141
hsa-mir-1294
ADRA1B
ANXA6
ATOX1
BNIP1
CANX
CCNG1
CLTB
NKX2-5
DBN1
DOCK2
DRD1
DUSP1
F12
FABP6
FAT2
FGFR4
FOXI1
FLT4
GABRA1
GABRA6
GABRB2
GABRG2
GABRP
GLRA1
GM2A
GRK6
GPX3
GRIA1
GRM6
HK3
HMMR
HNRNPAB
HNRNPH1
HRH2
IL12B
KCNMB1
LCP2
LTC4S
MFAP3
MGAT1
MSX2
MAPK9
PROP1
RARS
SGCD
SLC34A1
SLIT3
SNCB
SPARC
STK10
ZNF354A
TTC1
STC2
ADAM19
FGF18
SQSTM1
ATP6V0E1
PTTG1
PDLIM7
CNOT8
HAND1
MED7
ADAMTS2
CLINT1
MAML1
GFPT2
G3BP1
TNIP1
GNB2L1
SLU7
RGS14
CPLX2
C5orf4
FAM114A2
BTNL3
LMAN2
SOX30
MGAT4B
B4GALT7
RNF44
TBC1D9B
ATP10B
N4BP3
FAF2
WWC1
FBXW11
LARP1
ZNF346
GEMIN5
CCDC69
TSPAN17
OR4F3
HAVCR1
CYFIP2
PRELID1
MAT2B
MRPL22
KCNIP1
ZNF354C
RPL26L1
C5orf45
DDX41
NOP16
HMP19
UIMC1
RAB24
NEURL1B
FAM193B
TMED9
CDHR2
CCDC99
THG1L
GALNT10
NHP2
RNF130
NMUR2
KIAA1191
ERGIC1
CLK4
ODZ2
CNOT6
C5orf54
GMCL1P1
RMND5B
CCNJL
PANK3
SAP30L
BTNL8
DOK3
ZFP2
RUFY1
CPEB4
PRR7
OR4F16
TRIM7
MXD3
THOC3
TRIM52
HAVCR2
AGXT2L2
UNC5A
TRIM41
BOD1
COL23A1
TIMD4
UBTD2
SCGB3A1
SFXN1
GPRIN1
PWWP2A
C1QTNF2
ZNF354B
C5orf47
C5orf58
OR2Y1
LSM11
NUDCD2
UBLCP1
SLC36A2
C5orf41
BTNL9
PPP1R2P3
FAM71B
RNF145
HIGD2A
FAM153B
LOC202181
SLC36A1
EIF4E1B
RASGEF1C
LOC257358
EFCAB9
SH3PXD2B
LOC285593
FAM153A
ARL10
LOC285626
LOC285627
LOC285629
SLC36A3
KIF4B
OR2V2
ZNF454
C5orf60
LOC340037
PFN3
ZNF879
FBLL1
NIPAL4
C5orf25
FLJ38109
MIR103A1
MIR146A
MIR218-2
FNDC9
FLJ16171
MIR340
SNORD95
SNORD96A
LOC643201
ZFP62
CBY3
FAM153C
SNORA74B
MIR585
LOC728554
AACSP1
LOC729678
OR4F29
FAM196B
LOC100132062
LOC100132287
LOC100133331
C5orf52
LOC100268168
MIR1229
MIR103B1
MIR3142
MIR3141
MIR4281
MIR3912
LOC100507387
MIR4634
MIR4638
MIR378E
LOC100859930
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 3q29.

Table S30.  Genes in bold are cancer genes as defined by The Sanger Institute: Cancer Gene Census[7].

Genes
TFRC
hsa-mir-922
hsa-mir-570
hsa-mir-3137
APOD
BDH1
DLG1
MFI2
MUC4
PAK2
PCYT1A
PPP1R2
RPL35A
KIAA0226
TNK2
NCBP2
ACAP2
UBXN7
PIGX
PIGZ
IQCG
FYTTD1
LRCH3
CEP19
LMLN
TM4SF19
ZDHHC19
XXYLT1
LOC152217
RNF168
OSTalpha
FBXO45
MUC20
SENP5
LOC220729
TCTEX1D2
C3orf43
SDHAP1
WDR53
ANKRD18DP
LRRC33
LOC401109
MIR570
SDHAP2
FAM157A
MIR922
MFI2-AS1
LOC100507086
TM4SF19-TCTEX1D2
MIR4797
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 1p32.3.

Table S31.  Genes in bold are cancer genes as defined by The Sanger Institute: Cancer Gene Census[7].

Genes
CDKN2C
FAF1
DMRTA2
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 1p36.32.

Table S32.  Genes in bold are cancer genes as defined by The Sanger Institute: Cancer Gene Census[7].

Genes
AJAP1
MIR4417
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 5p15.33.

Table S33.  Genes in bold are cancer genes as defined by The Sanger Institute: Cancer Gene Census[7].

Genes
hsa-mir-4278
hsa-mir-4277
NDUFS6
SDHA
SLC6A3
SLC9A3
SRD5A1
TERT
TRIP13
PDCD6
SLC12A7
PAPD7
TPPP
EXOC3
KIAA0947
PP7080
IRX4
NSUN2
CEP72
AHRR
MRPL36
BRD9
IRX1
ZDHHC11
LPCAT1
CLPTM1L
MED10
NKD2
C5orf55
CCDC127
UBE2QL1
PLEKHG4B
C5orf38
IRX2
ADAMTS16
LOC255167
LOC285577
SLC6A19
LOC340094
SLC6A18
LRRC14B
FLJ33360
LOC442132
SDHAP3
LOC728613
MIR4277
MIR4278
LOC100506688
MIR4454
MIR4457
MIR4456
MIR4635
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 22q13.31.

Table S34.  Genes in bold are cancer genes as defined by The Sanger Institute: Cancer Gene Census[7].

Genes
hsa-mir-3201
hsa-let-7b
hsa-mir-1249
ACR
ARSA
CHKB
CPT1B
TYMP
FBLN1
PPARA
MAPK11
MAPK12
SBF1
UPK3A
WNT7B
CELSR1
PPP6R2
ZBED4
SCO2
PKDREJ
NUP50
RABL2B
GRAMD4
MLC1
KIAA0930
MAPK8IP2
PLXNB2
BRD1
ARHGAP8
TBC1D22A
ATXN10
FAM19A5
RIBC2
SMC1B
PARVB
NCAPH2
GTSE1
MOV10L1
FAM118A
TTC38
C22orf26
MIOX
PRR5
TRMU
PANX2
PARVG
CERK
ALG12
CRELD2
ADM2
TRABD
SELO
HDAC10
LDOC1L
KIAA1644
SHANK3
TUBGCP6
LOC90834
LMF2
PHF21B
KLHDC7B
LOC150381
C22orf40
CN5H6.4
LOC284933
RPL23AP82
LOC339685
C22orf34
CHKB-CPT1B
LINC00207
MIRLET7BHG
FLJ46257
IL17REL
MIRLET7A3
MIRLET7B
LINC00229
FAM116B
PIM3
ODF3B
PRR5-ARHGAP8
SYCE3
LOC730668
LOC100128946
LOC100144603
LOC100271722
MIR1249
MIR3201
MIR3619
LOC100506714
MIR4763
MIR4762
MIR4535
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 12q12.

Table S35.  Genes in bold are cancer genes as defined by The Sanger Institute: Cancer Gene Census[7].

Genes
CNTN1
NELL2
TWF1
RNY5
ENDOU
SCAF11
YAF2
RAPGEF3
PDZRN4
PLEKHA8P1
IRAK4
PPHLN1
SLC38A2
SLC38A4
SLC48A1
RPAP3
ADAMTS20
SLC38A1
PUS7L
RACGAP1P
TMEM117
ZCRB1
FAM113B
SLC2A13
LRRK2
PRICKLE1
ANO6
ARID2
C12orf40
GXYLT1
AMIGO2
LOC400027
DBX2
LOC100233209
MIR4698
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 3p21.31.

Table S36.  Genes in bold are cancer genes as defined by The Sanger Institute: Cancer Gene Census[7].

Genes
BAP1
SETD2
PBRM1
hsa-mir-135a-1
hsa-mir-566
hsa-mir-4271
hsa-mir-191
hsa-mir-711
hsa-mir-2115
hsa-mir-1226
hsa-mir-564
hsa-mir-138-1
ACY1
ALAS1
AMT
APEH
RHOA
CACNA1D
SLC25A20
CAMP
CCK
CDC25A
CISH
CCR1
CCR3
CCR5
CCBP2
COL7A1
CYP8B1
DAG1
DOCK3
DUSP7
CELSR3
GNAI2
GNAT1
XCR1
GPX1
GRM2
HYAL1
IMPDH2
ITIH1
ITIH3
ITIH4
LAMB2
LTF
MAP4
MST1
MST1R
MYL3
NKTR
PFKFB4
PLXNB1
PRKAR2A
PRKCD
PTH1R
QARS
RPL29
SEMA3F
SMARCC1
NEK4
TCTA
TDGF1
TGM4
TKT
CLEC3B
TNNC1
UBA7
USP4
UQCRC1
VIPR1
ZNF35
IFRD2
MAPKAPK3
SEMA3B
MANF
HYAL3
HYAL2
BSN
LIMD1
CCRL2
SEC22C
RRP9
CACNA2D2
VPRBP
IP6K1
PARP3
ZNF197
RBM6
RBM5
NME6
TRAIP
ARIH2
NPRL2
CXCR6
CSPG5
CCR9
USP19
SLC38A3
CYB561D2
TMEM115
WDR6
RASSF1
NISCH
TREX1
TUSC2
TWF2
TRAK1
DHX30
SACM1L
SCAP
LAMB2P1
EXOSC7
RAD54L2
STAB1
NBEAL2
KLHL18
LARS2
NAT6
ABHD14A
POC1A
TMEM158
NDUFAF3
PTPN23
DNAH1
HIGD1A
GNL3
SPCS1
PRSS50
RBM15B
GMPPB
ABHD5
C3orf18
SS18L2
SHISA5
ZDHHC3
ZMYND10
TEX264
CCDC72
ZNF589
HEMK1
IP6K2
SFMBT1
NCKIPSD
PHF7
TLR9
LZTFL1
P4HTM
SLC6A20
C3orf75
SNRK
QRICH1
ANO10
DALRD3
CHDH
IL17RB
DCP1A
GLT8D1
ZNF167
SEMA3G
KIF15
PCBP4
KIAA1143
HHATL
SELK
RNF123
KIF9
CDCP1
CCDC71
NT5DC2
SLC26A6
CAMKV
LRRC2
FYCO1
CCDC51
WDR82
RTP3
ATRIP
NICN1
MON1A
ABHD14B
C3orf39
UCN2
ZNF502
RFT1
ZBTB47
ACTR8
ZNF501
GPR62
LYZL4
KBTBD5
TMEM42
IQCF1
GLYCTK
PPM1M
C3orf45
CCDC12
CCDC13
KLHDC8B
ALS2CL
TMIE
FBXW12
C3orf23
ZNF660
FLJ39534
CCDC36
PRSS42
ZNF445
C3orf77
C3orf62
TMEM110
PRSS45
AMIGO3
ZNF662
CDHR4
FAM212A
IQCF2
IQCF5
MUSTN1
IQCF3
MIRLET7G
MIR135A1
MIR138-1
MIR191
TMEM89
IQCF6
C3orf78
MIR425
LOC644714
SPINK8
C3orf71
LOC646498
SNORD19
SNORD69
MIR564
FAM198A
CCR2
SNORD19B
C3orf74
NRADDP
LOC100132146
BSN-AS2
PRSS46
MIR1226
MIR711
MIR4271
KRBOX1
IQCF4
ABHD14A-ACY1
TMEM110-MUSTN1
MIR4793
MIR4787
MIR4443
LUST
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 18q23.

Table S37.  Genes in bold are cancer genes as defined by The Sanger Institute: Cancer Gene Census[7].

Genes
NFATC1
CTDP1
TXNL4A
ADNP2
KCNG2
SALL3
RBFA
PQLC1
PARD6G
ATP9B
HSBP1L1
LOC100130522
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 13q14.2.

Table S38.  Genes in bold are cancer genes as defined by The Sanger Institute: Cancer Gene Census[7].

Genes
LCP1
RB1
hsa-mir-3169
hsa-mir-1297
hsa-mir-759
hsa-mir-15a
ATP7B
KLF5
BTF3P11
RCBTB2
CLN5
CPB2
DACH1
EDNRB
ESD
MLNR
GTF2F2
GUCY1B2
HTR2A
KPNA3
LMO7
NEK3
PCDH8
PCDH9
POU4F1
ATXN8OS
TPT1
UCHL3
SCEL
SUCLA2
DLEU2
TSC22D1
ITM2B
UTP14C
TBC1D4
LPAR6
TRIM13
SPRY2
DLEU1
PIBF1
OLFM4
SUGT1
LECT1
KLF12
FNDC3A
DIS3
MYCBP2
ZC3H13
LRCH1
FBXL3
INTS6
CKAP2
NUFIP1
PCDH17
MED4
VPS36
PHF11
NDFIP2
RCBTB1
NUDT15
KIAA1704
THSD1
CYSLTR2
SPRYD7
KLHL1
RBM26
PCDH20
RNF219
RNASEH2B
DHRS12
BORA
KIAA0226L
TDRD3
CDADC1
CAB39L
DIAPH3
CCDC70
COG3
SETDB2
EBPL
SLITRK1
KCTD12
ARL11
WDFY2
LINC00284
SLAIN1
PRR20A
LACC1
LINC00330
HNRNPA1L2
ST13P4
CCDC122
COMMD6
FAM194B
SPERT
DLEU7
FAM124A
TPTE2P3
CTAGE10P
SLC25A30
OR7E156P
SIAH3
KCNRG
LINC00282
LINC00550
LINC00347
NEK5
THSD1P1
KCTD4
SERP2
MIR15A
MIR16-1
ALG11
MZT1
TSC22D1-AS1
SERPINE3
CTAGE11P
SNORA31
PRR20B
PRR20C
PRR20D
PRR20E
TPT1-AS1
MIR1297
MIR759
MIR3169
MIR3665
MIR3613
RBM26-AS1
LOC100509894
MIR4703
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 6p25.3.

Table S39.  Genes in bold are cancer genes as defined by The Sanger Institute: Cancer Gene Census[7].

Genes
IRF4
FOXF2
FOXC1
GMDS
EXOC2
WRNIP1
DUSP22
FOXQ1
HUS1B
C6orf195
LOC285768
MYLK4
LOC100508120
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 13q14.2.

Table S40.  Genes in bold are cancer genes as defined by The Sanger Institute: Cancer Gene Census[7].

Genes
LCP1
RB1
hsa-mir-1297
hsa-mir-759
hsa-mir-15a
ATP7B
RCBTB2
CPB2
ESD
MLNR
GUCY1B2
HTR2A
KPNA3
NEK3
PCDH8
TPT1
SUCLA2
DLEU2
ITM2B
UTP14C
LPAR6
TRIM13
DLEU1
OLFM4
SUGT1
LECT1
FNDC3A
ZC3H13
LRCH1
INTS6
CKAP2
PCDH17
MED4
VPS36
PHF11
RCBTB1
NUDT15
THSD1
CYSLTR2
SPRYD7
RNASEH2B
DHRS12
KIAA0226L
CDADC1
CAB39L
CCDC70
COG3
SETDB2
EBPL
ARL11
WDFY2
PRR20A
HNRNPA1L2
ST13P4
FAM194B
SPERT
DLEU7
FAM124A
TPTE2P3
CTAGE10P
SLC25A30
SIAH3
KCNRG
LINC00282
NEK5
THSD1P1
MIR15A
MIR16-1
ALG11
SERPINE3
SNORA31
PRR20B
PRR20C
PRR20D
PRR20E
TPT1-AS1
MIR1297
MIR759
MIR3613
LOC100509894
MIR4703
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 1q43.

Table S41.  Genes in bold are cancer genes as defined by The Sanger Institute: Cancer Gene Census[7].

Genes
FH
hsa-mir-3124
hsa-mir-3123
hsa-mir-1537
ACTN2
ADSS
CHML
LYST
CHRM3
GNG4
HNRNPU
KCNK1
LGALS8
MTR
NID1
RGS7
RYR2
TARBP1
TBCE
GPR137B
ZNF124
KMO
EXO1
GGPS1
TOMM20
CEP170
AKT3
ZNF238
SDCCAG8
RBM34
OPN3
TRIM58
AHCTF1
OR1C1
OR2M4
OR2L2
OR2L1P
OR2T1
PPPDE1
SCCPDH
ARID4B
KIAA1383
KIF26B
HEATR1
ZNF692
ERO1LB
FMN2
ZNF695
SIPA1L2
ZP4
TFB2M
GREM2
SMYD3
ZNF669
ZNF672
PCNXL2
SH3BP5L
OR2G3
OR2G2
OR2C3
NTPCR
EFCAB2
KIAA1804
ZNF496
ZNF670
NLRP3
FAM36A
OR2M5
OR2M3
OR2T12
OR14C36
OR2T34
OR2T10
OR2T4
OR2T11
OR2B11
WDR64
EDARADD
SLC35F3
B3GALNT2
C1orf150
LOC148824
LOC149134
CNST
PLD5
C1orf100
OR2T6
LOC255654
C1orf101
PGBD2
OR2L13
OR14A16
HNRNPU-AS1
VN1R5
LOC339529
LOC339535
OR6F1
OR2W3
OR2T8
OR2T3
OR2T29
IRF2BP2
C1orf31
C1orf229
OR2M1P
OR11L1
OR2L8
OR2AK2
OR2L3
OR2M2
OR2T33
OR2M7
OR2G6
OR2T2
OR2T5
OR14I1
OR2T27
OR2T35
MAP1LC3C
OR2W5
OR13G1
RPS7P5
LOC646627
SNORA14B
LOC731275
LOC100130331
LGALS8-AS1
MIR1537
LINC00184
MIR3123
MIR3124
MIR3916
LOC100506795
LOC100506810
ZNF670-ZNF695
MIR4753
MIR4677
MIR4671
MIR4427
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 9p23.

Table S42.  Genes in bold are cancer genes as defined by The Sanger Institute: Cancer Gene Census[7].

Genes
PTPRD
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 8q24.3.

Table S43.  Genes in bold are cancer genes as defined by The Sanger Institute: Cancer Gene Census[7].

Genes
RECQL4
hsa-mir-1234
hsa-mir-939
hsa-mir-661
hsa-mir-937
CYC1
EEF1D
GPT
GRINA
HSF1
TONSL
PLEC
RPL8
TSTA3
ZNF7
ZNF16
DGAT1
GPAA1
FOXH1
LRRC14
ZNF623
PUF60
ZC3H3
BOP1
SCRIB
FBXL6
OPLAH
COMMD5
CPSF1
CYHR1
VPS28
FAM203A
EXOSC4
SLC39A4
ZNF250
PYCRL
C8orf33
C8orf51
GPR172A
GSDMD
ARHGAP39
ZNF34
SHARPIN
EPPK1
SCRT1
MAF1
PARP10
TIGD5
PPP1R16A
ZNF251
KIFC2
NAPRT1
MFSD3
RHPN1
TOP1MT
ADCK5
MAPK15
ZNF707
BREA2
FAM83H
ZNF252
TMED10P1
C8orf77
NRBP2
ZNF517
KIAA1875
C8ORFK29
SPATC1
MAFA
C8orf82
LRRC24
C8orf73
SCXB
MIR661
HEATR7A
MIR937
MIR939
LOC100128338
SCXA
CCDC166
MIR1234
MIR4664
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 6q22.31.

Table S44.  Genes in bold are cancer genes as defined by The Sanger Institute: Cancer Gene Census[7].

Genes
MLLT4
MYB
ROS1
TNFAIP3
STL
FGFR1OP
GOPC
hsa-mir-1913
hsa-mir-1202
hsa-mir-1273c
hsa-mir-3145
hsa-mir-548a-2
hsa-mir-588
hsa-mir-3144
hsa-mir-548b
ACAT2
AMD1
ARG1
CCR6
COL10A1
CTGF
EPB41L2
EYA4
ESR1
FABP7
FOXO3
FRK
FUCA2
FYN
GJA1
GPR6
GPR31
GRM1
HDAC2
HIVEP2
HSF2
IFNGR1
IGF2R
KIF25
KPNA5
LAMA2
LAMA4
LPA
MARCKS
MAN1A1
MAS1
MAP3K4
MAP3K5
NMBR
OPRM1
PARK2
PCMT1
PDCD2
ENPP1
ENPP3
PEX7
PLAGL1
PLG
PLN
PKIB
PSMB1
PTPRK
REV3L
RPS6KA2
RPS12
SGK1
SLC22A1
SLC22A3
SLC22A2
SMPD2
SOD2
T
TBP
TCF21
TCP1
TCP10
TCTE3
DYNLT1
THBS2
NR2E1
TPD52L1
TSPYL1
UTRN
EZR
VIP
EPM2A
STX7
PEX3
DDO
RNASET2
STX11
SNX3
CD164
WISP3
SYNJ2
VNN2
VNN1
WASF1
TAAR5
MAP7
LATS1
TAAR2
TAAR3
MED23
QKI
AKAP7
TBPL1
WTAP
AKAP12
KIAA0408
PHACTR2
BCLAF1
ZBTB24
FIG4
UST
TRDN
CITED2
TRAF3IP2
HBS1L
PDE10A
SMPDL3A
RAB32
KATNA1
SEC63
SCAF8
CDK19
TAB2
TSPYL4
SASH1
SYNE1
HEY2
HEBP2
BRD7P3
ASF1A
CCDC28A
MTHFD1L
MOXD1
IPCEF1
TIAM2
C6orf123
FBXO5
RGS17
PDE7B
SESN1
DLL1
OSTM1
MRPL18
DSE
CLDN20
NOX3
HDDC2
TFB1M
TUBE1
CDC40
RWDD1
AIG1
SNX9
VTA1
BRP44L
HECA
IL20RA
UNC93A
MTRF1L
AHI1
RMND1
SOBP
PHF10
VNN3
C6orf70
ECHDC1
AGPAT4
TULP4
HYMAI
PDSS2
GPR126
KIAA1244
NHSL1
PLEKHG1
ARID1B
SERINC1
TMEM181
ZBTB2
C6orf115
PBOV1
TRMT11
PERP
SMOC2
ALDH8A1
MICAL1
ULBP3
OR2A4
C6orf211
FAM184A
ZDHHC14
ADGB
FRMD1
AGPAT4-IT1
C6orf208
C6orf97
MYCT1
ULBP2
ULBP1
LPAL2
PPP1R14C
RNF146
SF3B5
TAAR8
RSPH3
TTLL2
ARMC2
FBXO30
RPF2
L3MBTL3
FAM120B
FNDC1
RSPO3
LRP11
LTV1
SERAC1
REPS1
PPIL4
SLC22A16
LINC00473
KIAA1919
ARHGAP18
SYTL3
GTF3C6
FAM54A
SFT2D1
TMEM200A
NUS1
C6orf72
IL22RA2
C6orf192
SLC16A10
TAGAP
ADAT2
CLVS2
TAAR9
TAAR1
STXBP5
NCOA7
HINT3
PACRG
RAET1E
LOC153910
ZC2HC1B
CNKSR3
RAET1L
SAMD3
MGC34034
SLC2A12
LOC154092
PNLDC1
RNF217
NKAIN2
LOC154449
OLIG3
TXLNB
DACT2
C6orf118
OSTCP1
CCDC162P
AKD1
NT5DC1
FAM26D
ZUFSP
FAM162B
C6orf170
HS3ST5
GPRC6A
RFX6
SLC35F1
VGLL2
LACE1
C6orf191
WDR27
FAM26E
MCM9
SCML4
SHPRH
LINC00326
LOC285740
CEP57L1
PPIL6
LOC285758
FLJ34503
DCBLD1
LOC285762
LOC285796
PRR18
TAAR6
SLC35D3
ZC3H12D
RSPH4A
ECT2L
NUP43
C6orf58
RAET1G
HMGA1P7
SUMO4
CENPW
C6orf174
LINC00222
CEP85L
C6orf120
THEMIS
SAMD5
IYD
DKFZp451B082
TCP10L2
LINC00242
GTF2H5
FAM26F
FLJ46906
LOC441177
GSTM2P1
RFPL4B
SNORD101
SNORD100
SNORA33
C6orf225
LOC643623
TRAF3IP2-AS1
CTAGE9
LOC645434
RAET1K
MLLT4-AS1
SNORA20
SNORA29
MIR548B
TPI1P3
C6orf186
LOC729176
LOC729178
TMEM242
LOC729603
HGC6.3
LOC100128176
BET3L
LOC100129518
C6orf99
LINC00271
LOC100132735
LOC100287632
LOC100289495
NHEG1
MIR1913
MIR3145
MIR3918
MIR3939
MIR3668
MIR3662
MIR3692
LOC100507203
LOC100507254
LOC100507462
LOC100507489
LOC100507557
CAHM
MIR4466
MIR4465
MIR4644
LOC100652739
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 7p22.3.

Table S45.  Genes in bold are cancer genes as defined by The Sanger Institute: Cancer Gene Census[7].

Genes
CARD11
hsa-mir-339
GNA12
GPER
LFNG
NUDT1
PDGFA
PRKAR1B
MAFK
MAD1L1
EIF3B
ADAP1
IQCE
SUN1
INTS1
SNX8
FTSJ2
GET4
CYP2W1
HEATR2
CHST12
FAM20C
MICALL2
TTYH3
PSMG3
C7orf50
ZFAND2A
COX19
KIAA1908
GPR146
AMZ1
TMEM184A
BRAT1
SDK1
TFAMP1
UNCX
ELFN1
FLJ44511
LOC442497
MIR339
LOC100288524
MIR4648
MIR4655
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 13q34.

Table S46.  Genes in bold are cancer genes as defined by The Sanger Institute: Cancer Gene Census[7].

Genes
CDC16
RASA3
UPF3A
CHAMP1
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 12p13.1.

Table S47.  Genes in bold are cancer genes as defined by The Sanger Institute: Cancer Gene Census[7].

Genes
hsa-mir-614
hsa-mir-613
CDKN1B
CREBL2
EMP1
GPR19
GRIN2B
LRP6
GPRC5A
HEBP1
DDX47
MANSC1
GPRC5D
KIAA1467
DUSP16
APOLD1
GSG1
HTR7P1
LOH12CR1
C12orf36
RPL13AP20
LOH12CR2
MIR613
MIR614
MIR1244-1
MIR1244-3
MIR1244-2
LOC100506314
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 15q21.3.

Table S48.  Genes in bold are cancer genes as defined by The Sanger Institute: Cancer Gene Census[7].

Genes
BUB1B
TCF12
FLJ27352
C15orf55
hsa-mir-1272
hsa-mir-422a
hsa-mir-190
hsa-mir-2116
hsa-mir-628
hsa-mir-1266
hsa-mir-147b
hsa-mir-1282
hsa-mir-627
hsa-mir-4310
hsa-mir-626
hsa-mir-1233-2
hsa-mir-1233-1
hsa-mir-211
hsa-mir-1268
hsa-mir-3118-6
hsa-mir-3118-4
ACTC1
ADAM10
ANXA2
APBA2
AQP9
B2M
NBEAP1
BNIP2
CA12
CAPN3
CHRM5
CHRNA7
CKMT1B
CYP19A1
DUT
EPB42
FBN1
FGF7
GABPB1
GABRA5
GABRB3
GABRG3
GALK2
GANC
GATM
GCHFR
PDIA3
GTF2A2
HDC
ONECUT1
IPW
ITPKA
IVD
LIPC
LTK
MAP1A
MEIS2
MFAP1
TRPM1
MYO1E
MYO5A
NDN
NEDD4
OAZ2
OCA2
PLCB2
PPIB
MAPK6
RAB27A
RAD51
RORA
RYR3
SCG5
SLC12A1
SNRPN
SNX1
SORD
SPINT1
SRP14
THBS1
TJP1
TP53BP1
TPM1
TYRO3
UBE3A
MKRN3
SLC30A4
PAR5
EIF3J
JMJD7-PLA2G4B
SNAP23
ALDH1A2
HERC2
HERC1
SNURF
USP8
CCNB2
SLC28A2
CCPG1
GCNT3
COPS2
TRIP4
TGM5
PIGB
PPIP5K1
AQR
SECISBP2L
KIAA0101
ARHGAP11A
LCMT2
USP3
SLC12A6
BCL2L10
RASGRP1
SERF2
GNB5
ARPP19
SLC27A2
GPR176
CHP
OIP5
BAHD1
FAN1
CEP152
MAPKBP1
GOLGA8A
ZNF609
RTF1
CYFIP1
MGA
DMXL2
VPS39
FAM189A1
AP4E1
CCNDBP1
DAPK2
EID1
C15orf2
C15orf63
TMEM87A
RPAP1
DKFZP434L187
PYGO1
PLDN
GREM1
FOXB1
RPUSD2
TUBGCP4
SCG3
TMOD3
TMOD2
EHD4
DUOX2
MYEF2
RPS27L
NDUFAF1
RSL24D1
NUSAP1
TMEM85
SPTBN5
CTDSPL2
KLF13
RAB8B
DUOX1
CSNK1G1
MAGEL2
DLL4
INO80
FAM63B
RNF111
ZNF280D
TRPM7
VPS13C
PPP1R14D
MTMR10
ZNF770
FLJ10038
HAUS2
FAM82A2
DNAJC17
MNS1
NOP10
MYO5C
NDNL2
FAM214A
C15orf24
PAK6
DTWD1
CASC5
AVEN
ATP10A
GJD2
STARD9
VPS18
SQRDL
ZFP106
RFX7
SPATA5L1
CHAC1
NARG2
C15orf29
SLTM
SNX22
ATP8B4
WDR76
TMEM62
SEMA6D
PIF1
SPG11
ELL3
PLEKHO2
POLR2M
NIPA2
APH1B
TLN2
FAM96A
C15orf48
C15orf41
SPPL2A
ZFYVE19
CGNL1
FRMD5
DISP2
CHRFAM7A
ULK4P3
ULK4P1
ARHGAP11B
ATPBD4
C15orf57
C15orf23
BMF
SHF
DUOXA1
SNORD107
LDHAL6B
CHST14
CASC4
LACTB
TUBGCP5
TGM7
CATSPER2
LEO1
NIPA1
PLA2G4E
TRIM69
PAR1
C15orf43
LOC145663
C2CD4A
FAM81A
GCOM1
LOC145783
LOC145845
TMCO5A
ZSCAN29
TTBK2
CDAN1
STRC
DYX1C1
CSNK1A1P1
OTUD7A
SPRED1
PGBD4
ADAL
EXD1
FSIP1
RHOV
C15orf33
MGC15885
UBR1
PATL2
LPCAT4
PLA2G4F
LRRC57
LYSMD2
WDR72
HMGN2P46
SLC24A5
PRTG
LOC283663
LOC283683
OR4N4
LOC283710
FAM98B
PLA2G4D
HERC2P3
GOLGA6L1
GOLGA8G
GOLGA8IP
FBXL22
SNORD108
SNORD109A
SNORD109B
SNORD115-1
WHAMMP3
POTEB
GLDN
FMN1
SNORD64
PAR4
PAR-SN
RBPMS2
ANKDD1A
LOC348120
MRPL42P5
USP50
TEX9
C15orf52
TNFAIP8L3
C2CD4B
GOLGA8E
OR4M2
OR4N3P
SHC4
CTXN2
HERC2P2
C15orf53
C15orf54
DUOXA2
MIR190A
MIR211
NF1P2
HERC2P9
WHAMMP2
GOLGA8B
EIF2AK4
CATSPER2P1
UNC13C
LOC503519
CKMT1A
SERINC4
C15orf62
C15orf56
PHGR1
LOC645212
CHEK2P2
LOC646214
CXADRP2
LOC646278
REREP3
LOC653061
LOC653075
HSP90AB4P
MIR626
MIR627
MIR628
ANP32AP1
SNORD116-19
GOLGA6L6
LOC727924
LOC728758
OIP5-AS1
GOLGA8C
PWRN1
PWRN2
SNORD116-1
SNORD116-2
SNORD116-3
SNORD116-4
SNORD116-5
SNORD116-6
SNORD116-7
SNORD116-8
SNORD116-9
SNORD116-10
SNORD116-11
SNORD116-12
SNORD116-13
SNORD116-14
SNORD116-15
SNORD116-16
SNORD116-17
SNORD116-18
SNORD116-20
SNORD116-21
SNORD116-22
SNORD116-23
SNORD116-24
SNORD116-25
SNORD115-2
SNORD116-26
SNORD116-27
SNORD115-3
SNORD115-4
SNORD115-5
SNORD115-6
SNORD115-7
SNORD115-8
SNORD115-9
SNORD115-10
SNORD115-11
SNORD115-12
SNORD115-13
SNORD115-14
SNORD115-15
SNORD115-16
SNORD115-17
SNORD115-18
SNORD115-19
SNORD115-20
SNORD115-21
SNORD115-22
SNORD115-23
SNORD115-25
SNORD115-26
SNORD115-29
SNORD115-30
SNORD115-31
SNORD115-32
SNORD115-33
SNORD115-34
SNORD115-35
SNORD115-36
SNORD115-37
SNORD115-38
SNORD115-39
SNORD115-40
SNORD115-41
SNORD115-42
SNORD115-43
SNORD115-44
SNORD116-28
SNORD116-29
SNORD115-48
SNORD115-24
SNORD115-27
SNORD115-28
SNORD115-45
SNORD115-47
MIR147B
LOC100128714
LOC100129387
LOC100130855
LOC100131089
ANKRD63
HERC2P7
GOLGA8F
LOC100132724
GOLGA8DP
JMJD7
PLA2G4B
ULK4P2
LOC100288615
LOC100288637
LOC100289656
MIR1233-1
MIR1272
MIR1266
MIR1282
LOC100306975
MIR2116
MIR1233-2
MIR4310
MIR3942
LOC100505648
LOC100507466
SERF2-C15ORF63
DYX1C1-CCPG1
MIR4509-1
MIR4509-2
MIR4508
MIR4510
MIR4716
MIR4713
MIR4509-3
MIR4712
MIR4715
TMCO5B
MYZAP
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 6q24.3.

Table S49.  Genes in bold are cancer genes as defined by The Sanger Institute: Cancer Gene Census[7].

Genes
PRDM1
MLLT4
MYB
ROS1
TNFAIP3
STL
FGFR1OP
GOPC
hsa-mir-1913
hsa-mir-1202
hsa-mir-1273c
hsa-mir-3145
hsa-mir-548a-2
hsa-mir-588
hsa-mir-3144
hsa-mir-548b
hsa-mir-587
ACAT2
AIM1
AMD1
ARG1
CCR6
COL10A1
CTGF
EPB41L2
EYA4
ESR1
FABP7
FOXO3
FRK
FUCA2
FYN
GJA1
GPR6
GPR31
GRM1
HDAC2
HIVEP2
HSF2
IFNGR1
IGF2R
KIF25
KPNA5
LAMA2
LAMA4
LPA
MARCKS
MAN1A1
MAS1
MAP3K4
MAP3K5
NMBR
OPRM1
PARK2
PCMT1
PDCD2
ENPP1
ENPP3
PEX7
PLAGL1
PLG
PLN
PREP
PKIB
PSMB1
PTPRK
REV3L
RPS6KA2
RPS12
SGK1
SLC22A1
SLC22A3
SLC22A2
SMPD2
SOD2
T
TBP
TCF21
TCP1
TCP10
TCTE3
DYNLT1
THBS2
NR2E1
TPD52L1
TSPYL1
UTRN
EZR
VIP
EPM2A
STX7
PEX3
DDO
RNASET2
STX11
SNX3
CD164
WISP3
SYNJ2
VNN2
VNN1
WASF1
TAAR5
MAP7
LATS1
TAAR2
TAAR3
MED23
QKI
AKAP7
ATG5
TBPL1
WTAP
AKAP12
KIAA0408
PHACTR2
BCLAF1
ZBTB24
FIG4
UST
TRDN
CITED2
TRAF3IP2
HBS1L
PDE10A
SMPDL3A
RAB32
KATNA1
BVES
SEC63
SCAF8
CDK19
TAB2
TSPYL4
SASH1
SYNE1
HEY2
HEBP2
BRD7P3
ASF1A
CCDC28A
MTHFD1L
MOXD1
IPCEF1
TIAM2
C6orf123
FBXO5
RGS17
PDE7B
SESN1
DLL1
OSTM1
MRPL18
DSE
CLDN20
NOX3
HDDC2
TFB1M
TUBE1
C6orf203
CDC40
RWDD1
AIG1
SNX9
VTA1
BRP44L
HECA
IL20RA
UNC93A
MTRF1L
AHI1
RMND1
SOBP
PHF10
QRSL1
VNN3
C6orf70
ECHDC1
AGPAT4
TULP4
HYMAI
PDSS2
GPR126
KIAA1244
NHSL1
PLEKHG1
ARID1B
SERINC1
HACE1
TMEM181
ZBTB2
BEND3
C6orf115
PBOV1
TRMT11
PERP
SMOC2
POPDC3
ALDH8A1
MICAL1
ULBP3
OR2A4
C6orf211
FAM184A
ZDHHC14
ADGB
FRMD1
AGPAT4-IT1
C6orf208
C6orf97
MYCT1
ULBP2
ULBP1
LPAL2
PPP1R14C
RNF146
SF3B5
TAAR8
RSPH3
TTLL2
ARMC2
FBXO30
RPF2
L3MBTL3
FAM120B
FNDC1
RTN4IP1
RSPO3
LRP11
LTV1
SERAC1
REPS1
PPIL4
SLC22A16
LINC00473
KIAA1919
ARHGAP18
SYTL3
GTF3C6
FAM54A
SFT2D1
TMEM200A
NUS1
C6orf72
IL22RA2
C6orf192
SLC16A10
TAGAP
ADAT2
CLVS2
TAAR9
TAAR1
STXBP5
NCOA7
HINT3
PACRG
RAET1E
LOC153910
ZC2HC1B
CNKSR3
RAET1L
SAMD3
MGC34034
SLC2A12
LOC154092
PNLDC1
RNF217
NKAIN2
BVES-AS1
LOC154449
OLIG3
TXLNB
DACT2
C6orf118
OSTCP1
CCDC162P
AKD1
NT5DC1
FAM26D
ZUFSP
FAM162B
C6orf170
HS3ST5
GPRC6A
RFX6
SLC35F1
VGLL2
LACE1
C6orf191
WDR27
FAM26E
MCM9
SCML4
SHPRH
LINC00326
LOC285740
CEP57L1
PPIL6
LOC285758
FLJ34503
DCBLD1
LOC285762
LOC285796
PRR18
TAAR6
SLC35D3
ZC3H12D
RSPH4A
ECT2L
NUP43
C6orf58
RAET1G
HMGA1P7
SUMO4
CENPW
C6orf174
LINC00222
CEP85L
C6orf120
THEMIS
LIN28B
SAMD5
IYD
DKFZp451B082
TCP10L2
LINC00242
GTF2H5
FAM26F
FLJ46906
LOC441177
GSTM2P1
RFPL4B
SNORD101
SNORD100
SNORA33
C6orf225
LOC643623
TRAF3IP2-AS1
CTAGE9
LOC645434
RAET1K
MLLT4-AS1
SNORA20
SNORA29
MIR548B
TPI1P3
C6orf186
LOC729176
LOC729178
TMEM242
LOC729603
HGC6.3
LOC100128176
BET3L
LOC100129518
C6orf99
LINC00271
LOC100132735
LOC100287632
LOC100289495
NHEG1
MIR1913
LOC100422737
MIR3145
MIR3918
MIR3939
MIR3668
MIR3662
MIR3692
LOC100507203
LOC100507254
LOC100507462
LOC100507489
LOC100507557
CAHM
MIR4466
MIR4465
MIR4644
LOC100652739
Arm-level results

Table 3.  Get Full Table Arm-level significance table - 23 significant results found. The significance cutoff is at Q value=0.25.

Arm # Genes Amp Frequency Amp Z score Amp Q value Del Frequency Del Z score Del Q value
1p 2121 0.04 -2.18 1 0.37 25.9 0
1q 1955 0.05 -2.05 1 0.05 -2.05 1
2p 924 0.03 -3.89 1 0.04 -2.76 1
2q 1556 0.02 -4.28 1 0.04 -2.8 1
3p 1062 0.02 -4.47 1 0.06 -1.06 1
3q 1139 0.02 -4.82 1 0.06 -1.57 1
4p 489 0.03 -3.87 1 0.14 5.71 2.29e-08
4q 1049 0.01 -5.05 1 0.18 9.37 0
5p 270 0.02 -4.59 1 0.07 -0.617 1
5q 1427 0.01 -4.89 1 0.07 -0.471 1
6p 1173 0.01 -4.97 1 0.06 -1.23 1
6q 839 0.00 -5.67 1 0.12 4.17 4.43e-05
7p 641 0.23 13.4 0 0.01 -4.73 1
7q 1277 0.29 19.2 0 0.01 -4.75 1
8p 580 0.09 1.26 0.594 0.04 -3.22 1
8q 859 0.11 2.97 0.00999 0.02 -4.13 1
9p 422 0.03 -3.21 1 0.24 14.1 0
9q 1113 0.05 -2.31 1 0.11 2.88 0.00468
10p 409 0.13 3.88 0.000419 0.19 8.78 0
10q 1268 0.01 -4.74 1 0.20 11.2 0
11p 862 0.07 -0.469 1 0.13 4.68 4.88e-06
11q 1515 0.12 3.9 0.000419 0.05 -2.15 1
12p 575 0.06 -0.999 1 0.06 -1.64 1
12q 1447 0.03 -3.65 1 0.11 3.06 0.00281
13q 654 0.01 -4.74 1 0.23 13 0
14q 1341 0.01 -5.1 1 0.16 7.31 6.81e-13
15q 1355 0.02 -4.23 1 0.10 2.63 0.00948
16p 872 0.03 -3.94 1 0.03 -3.62 1
16q 702 0.04 -3.07 1 0.04 -2.59 1
17p 683 0.04 -3.16 1 0.03 -3.96 1
17q 1592 0.04 -2.46 1 0.02 -4.6 1
18p 143 0.03 -3.44 1 0.14 5.11 5.87e-07
18q 446 0.03 -3.96 1 0.13 4.17 4.43e-05
19p 995 0.20 10.7 0 0.06 -0.897 1
19q 1709 0.08 0.727 1 0.43 30.6 0
20p 355 0.09 0.709 1 0.01 -5.03 1
20q 753 0.08 0.632 1 0.01 -5.49 1
21q 509 0.05 -2.12 1 0.07 -0.201 1
22q 921 0.05 -1.96 1 0.12 3.53 0.000561
Xq 1312 0.08 0.539 1 0.16 6.87 1.42e-11
Methods & Data
Input
Description
  • Segmentation File: The segmentation file contains the segmented data for all the samples identified by GLAD, CBS, or some other segmentation algorithm. (See GLAD file format in the Genepattern file formats documentation.) It is a six column, tab-delimited file with an optional first line identifying the columns. Positions are in base pair units.The column headers are: (1) Sample (sample name), (2) Chromosome (chromosome number), (3) Start Position (segment start position, in bases), (4) End Position (segment end position, in bases), (5) Num markers (number of markers in segment), (6) Seg.CN (log2() -1 of copy number).

  • Markers File: The markers file identifies the marker names and positions of the markers in the original dataset (before segmentation). It is a three column, tab-delimited file with an optional header. The column headers are: (1) Marker Name, (2) Chromosome, (3) Marker Position (in bases).

  • Reference Genome: The reference genome file contains information about the location of genes and cytobands on a given build of the genome. Reference genome files are created in Matlab and are not viewable with a text editor.

  • CNV Files: There are two options for the cnv file. The first option allows CNVs to be identified by marker name. The second option allows the CNVs to be identified by genomic location. Option #1: A two column, tab-delimited file with an optional header row. The marker names given in this file must match the marker names given in the markers file. The CNV identifiers are for user use and can be arbitrary. The column headers are: (1) Marker Name, (2) CNV Identifier. Option #2: A 6 column, tab-delimited file with an optional header row. The 'CNV Identifier' is for user use and can be arbitrary. 'Narrow Region Start' and 'Narrow Region End' are also not used. The column headers are: (1) CNV Identifier, (2) Chromosome, (3) Narrow Region Start, (4) Narrow Region End, (5) Wide Region Start, (6) Wide Region End

  • Amplification Threshold: Threshold for copy number amplifications. Regions with a log2 ratio above this value are considered amplified.

  • Deletion Threshold: Threshold for copy number deletions. Regions with a log2 ratio below the negative of this value are considered deletions.

  • Cap Values: Minimum and maximum cap values on analyzed data. Regions with a log2 ratio greater than the cap are set to the cap value; regions with a log2 ratio less than -cap value are set to -cap. Values must be positive.

  • Broad Length Cutoff: Threshold used to distinguish broad from focal events, given in units of fraction of chromosome arm.

  • Remove X-Chromosome: Flag indicating whether to remove data from the X-chromosome before analysis. Allowed values= {1,0} (1: Remove X-Chromosome, 0: Do not remove X-Chromosome.

  • Confidence Level: Confidence level used to calculate the region containing a driver.

  • Join Segment Size: Smallest number of markers to allow in segments from the segmented data. Segments that contain fewer than this number of markers are joined to the neighboring segment that is closest in copy number.

  • Arm Level Peel Off: Flag set to enable arm-level peel-off of events during peak definition. The arm-level peel-off enhancement to the arbitrated peel-off method assigns all events in the same chromosome arm of the same sample to a single peak. It is useful when peaks are split by noise or chromothripsis. Allowed values= {1,0} (1: Use arm level peel off, 0: Use normal arbitrated peel-off).

  • Maximum Sample Segments: Maximum number of segments allowed for a sample in the input data. Samples with more segments than this threshold are excluded from the analysis.

  • Gene GISTIC: When enabled (value = 1), this option causes GISTIC to analyze deletions using genes instead of array markers to locate the lesion. In this mode, the copy number assigned to a gene is the lowest copy number among the markers that represent the gene.

Values

List of inputs used for this run of GISTIC2. All files listed should be included in the archived results.

  • Segmentation File = /xchip/cga/gdac-prod/tcga-gdac/jobResults/GDAC_MergeDataFilesPipeline/LGG-TP/9825619/GDAC_MergeDataFiles_9827872/LGG-TP.snp__genome_wide_snp_6__broad_mit_edu__Level_3__segmented_scna_minus_germline_cnv_hg19__seg.seg.txt

  • Markers File = /xchip/cga/reference/gistic2/genome.info.6.0_hg19.na31_minus_frequent_nan_probes_sorted_2.1.txt

  • Reference Genome = /xchip/cga/reference/gistic2/hg19_with_miR_20120227.mat

  • CNV Files = /xchip/cga/reference/gistic2/CNV.hg19.bypos.111213.txt

  • Amplification Threshold = 0.1

  • Deletion Threshold = 0.1

  • Cap Values = 1.5

  • Broad Length Cutoff = 0.7

  • Remove X-Chromosome = 0

  • Confidence Level = 0.99

  • Join Segment Size = 4

  • Arm Level Peel Off = 1

  • Maximum Sample Segments = 2000

  • Gene GISTIC = 1

Table 4.  Get Full Table First 10 out of 512 Input Tumor Samples.

Tumor Sample Names
TCGA-CS-4938-01B-11D-1892-01
TCGA-CS-4941-01A-01D-1466-01
TCGA-CS-4942-01A-01D-1466-01
TCGA-CS-4943-01A-01D-1466-01
TCGA-CS-4944-01A-01D-1466-01
TCGA-CS-5390-01A-02D-1466-01
TCGA-CS-5393-01A-01D-1466-01
TCGA-CS-5394-01A-01D-1466-01
TCGA-CS-5395-01A-01D-1466-01
TCGA-CS-5396-01A-02D-1466-01

Figure 3.  Segmented copy number profiles in the input data

Output
All Lesions File (all_lesions.conf_##.txt, where ## is the confidence level)

The all lesions file summarizes the results from the GISTIC run. It contains data about the significant regions of amplification and deletion as well as which samples are amplified or deleted in each of these regions. The identified regions are listed down the first column, and the samples are listed across the first row, starting in column 10.

Region Data

Columns 1-9 present the data about the significant regions as follows:

  1. Unique Name: A name assigned to identify the region.

  2. Descriptor: The genomic descriptor of that region.

  3. Wide Peak Limits: The 'wide peak' boundaries most likely to contain the targeted genes. These are listed in genomic coordinates and marker (or probe) indices.

  4. Peak Limits: The boundaries of the region of maximal amplification or deletion.

  5. Region Limits: The boundaries of the entire significant region of amplification or deletion.

  6. Q values: The Q value of the peak region.

  7. Residual Q values: The Q value of the peak region after removing ('peeling off') amplifications or deletions that overlap other, more significant peak regions in the same chromosome.

  8. Broad or Focal: Identifies whether the region reaches significance due primarily to broad events (called 'broad'), focal events (called 'focal'), or independently significant broad and focal events (called 'both').

  9. Amplitude Threshold: Key giving the meaning of values in the subsequent columns associated with each sample.

Sample Data

Each of the analyzed samples is represented in one of the columns following the lesion data (columns 10 through end). The data contained in these columns varies slightly by section of the file. The first section can be identified by the key given in column 9 - it starts in row 2 and continues until the row that reads 'Actual Copy Change Given.' This section contains summarized data for each sample. A '0' indicates that the copy number of the sample was not amplified or deleted beyond the threshold amount in that peak region. A '1' indicates that the sample had low-level copy number aberrations (exceeding the low threshold indicated in column 9), and a '2' indicates that the sample had high-level copy number aberrations (exceeding the high threshold indicated in column 9).The second section can be identified the rows in which column 9 reads 'Actual Copy Change Given.' The second section exactly reproduces the first section, except that here the actual changes in copy number are provided rather than zeroes, ones, and twos.The final section is similar to the first section, except that here only broad events are included. A 1 in the samples columns (columns 10+) indicates that the median copy number of the sample across the entire significant region exceeded the threshold given in column 9. That is, it indicates whether the sample had a geographically extended event, rather than a focal amplification or deletion covering little more than the peak region.

Amplification Genes File (amp_genes.conf_##.txt, where ## is the confidence level)

The amp genes file contains one column for each amplification peak identified in the GISTIC analysis. The first four rows are:

  1. Cytoband

  2. Q value

  3. Residual Q value

  4. Wide Peak Boundaries

These rows identify the lesion in the same way as the all lesions file.The remaining rows list the genes contained in each wide peak. For peaks that contain no genes, the nearest gene is listed in brackets.

Deletion Genes File (del_genes.conf_##.txt, where ## is the confidence level)

The del genes file contains one column for each deletion peak identified in the GISTIC analysis. The file format for the del genes file is identical to the format for the amp genes file.

Gistic Scores File (scores.gistic)

The scores file lists the Q values [presented as -log10(q)], G scores, average amplitudes among aberrant samples, and frequency of aberration, across the genome for both amplifications and deletions. The scores file is viewable with the Genepattern SNPViewer module and may be imported into the Integrated Genomics Viewer (IGV).

Segmented Copy Number (raw_copy_number.{fig|pdf|png} )

The segmented copy number is a pdf file containing a colormap image of the segmented copy number profiles in the input data.

Amplification Score GISTIC plot (amp_qplot.{fig|pdf|png|v2.pdf})

The amplification pdf is a plot of the G scores (top) and Q values (bottom) with respect to amplifications for all markers over the entire region analyzed.

Deletion Score GISTIC plot (del_qplot.{fig|pdf|png|v2.pdf})

The deletion pdf is a plot of the G scores (top) and Q values (bottom) with respect to deletions for all markers over the entire region analyzed.

Tables (table_{amp|del}.conf_##.txt, where ## is the confidence level)

Tables of basic information about the genomic regions (peaks) that GISTIC determined to be significantly amplified or deleted. These describe three kinds of peak boundaries, and list the genes contained in two of them. The region start and region end columns (along with the chromosome column) delimit the entire area containing the peak that is above the significance level. The region may be the same for multiple peaks. The peak start and end delimit the maximum value of the peak. The extended peak is the peak determined by robust, and is contained within the wide peak reported in {amp|del}_genes.txt by one marker.

Broad Significance Results (broad_significance_results.txt)

A table of per-arm statistical results for the data set. Each arm is a row in the table. The first column specifies the arm and the second column counts the number of genes known to be on the arm. For both amplification and deletion, the table has columns for the frequency of amplification or deletion of the arm, and a Z score and Q value.

Broad Values By Arm (broad_values_by_arm.txt)

A table of chromosome arm amplification levels for each sample. Each row is a chromosome arm, and each column a sample. The data are in units of absolute copy number -2.

All Data By Genes (all_data_by_genes.txt)

A gene-level table of copy number values for all samples. Each row is the data for a gene. The first three columns name the gene, its NIH locus ID, and its cytoband - the remaining columns are the samples. The copy number values in the table are in units of (copy number -2), so that no amplification or deletion is 0, genes with amplifications have positive values, and genes with deletions are negative values. The data are converted from marker level to gene level using the extreme method: a gene is assigned the greatest amplification or the least deletion value among the markers it covers.

Broad Data By Genes (broad_data_by_genes.txt)

A gene-level table of copy number data similar to the all_data_by_genes.txt output, but using only broad events with lengths greater than the broad length cutoff. The structure of the file and the methods and units used for the data analysis are otherwise identical to all_data_by_genes.txt.

Focal Data By Genes (focal_data_by_genes.txt)

A gene-level table of copy number data similar to the all_data_by_genes.txt output, but using only focal events with lengths greater than the focal length cutoff. The structure of the file and the methods and units used for the data analysis are otherwise identical to all_data_by_genes.txt.

All Thresholded By Genes (all_thresholded.by_genes.txt)

A gene-level table of discrete amplification and deletion indicators at for all samples. There is a row for each gene. The first three columns name the gene, its NIH locus ID, and its cytoband - the remaining columns are the samples. A table value of 0 means no amplification or deletion above the threshold. Amplifications are positive numbers: 1 means amplification above the amplification threshold; 2 means amplifications larger to the arm level amplifications observed for the sample. Deletions are represented by negative table values: -1 represents deletion beyond the threshold; -2 means deletions greater than the minimum arm-level deletion observed for the sample.

Sample Cutoffs (sample_cutoffs.txt)

A table of the per-sample threshold cutoffs (in units of absolute copy number -2) used to distinguish the high level amplifications (+/-2) from ordinary amplifications (+/-1) in the all_thresholded.by_genes.txt output file. The table contains three columns: the sample identifier followed by the low (deletion) and high (amplification) cutoff values. The cutoffs are calculated as the minimum arm-level amplification level less the deletion threshold for deletions and the maximum arm-level amplification plus the amplification threshold for amplifications.

Focal Input To Gistic (focal_input.seg.txt)

A list of copy number segments describing just the focal events present in the data. The segment amplification/deletion levels are in units of (copy number -2), with amplifications positive and deletions negative numbers. This file may be viewed with IGV.

Gene Counts vs. Copy Number Alteration Frequency (freqarms_vs_ngenes.{fig|pdf})

An image showing the correlation between gene counts and frequency of copy number alterations.

Confidence Intervals (regions_track.conf_##.bed, where ## is the confidence level)

A file indicating the position of the confidence intervals around GISTIC peaks that can be loaded as a track in a compatible viewer browser such as IGV or the UCSC genome browser.

GISTIC

GISTIC identifies genomic regions that are significantly gained or lost across a set of tumors. It takes segmented copy number ratios as input, separates arm-level events from focal events, and then performs two tests: (i) identifies significantly amplified/deleted chromosome arms; and (ii) identifies regions that are significantly focally amplified or deleted. For the focal analysis, the significance levels (Q values) are calculated by comparing the observed gains/losses at each locus to those obtained by randomly permuting the events along the genome to reflect the null hypothesis that they are all 'passengers' and could have occurred anywhere. The locus-specific significance levels are then corrected for multiple hypothesis testing. The arm-level significance is calculated by comparing the frequency of gains/losses of each arm to the expected rate given its size. The method outputs genomic views of significantly amplified and deleted regions, as well as a table of genes with gain or loss scores. A more in depth discussion of the GISTIC algorithm and its utility is given in [1], [3], and [5].

CNV Description

Regions of the genome that are prone to germ line variations in copy number are excluded from the GISTIC analysis using a list of germ line copy number variations (CNVs). A CNV is a DNA sequence that may be found at different copy numbers in the germ line of two different individuals. Such germ line variations can confound a GISTIC analysis, which finds significant somatic copy number variations in cancer. A more in depth discussion is provided in [6]. GISTIC currently uses two CNV exclusion lists. One is based on the literature describing copy number variation, and a second one comes from an analysis of significant variations among the blood normals in the TCGA data set.

Download Results

In addition to the links below, the full results of the analysis summarized in this report can also be downloaded programmatically using firehose_get, or interactively from either the Broad GDAC website or TCGA Data Coordination Center Portal.

References
[1] Beroukhim et al, Assessing the significance of chromosomal aberrations in cancer: Methodology and application to glioma, Proc Natl Acad Sci U S A. Vol. 104:50 (2007)
[3] Mermel et al, GISTIC2.0 facilitates sensitive and confident localization of the targets of focal somatic copy-number alteration in human cancers, Genome Biology Vol. 12:4 (2011)
[5] Beroukhim et al., The landscape of somatic copy-number alteration across human cancers, Nature Vol. 463:7283 (2010)
[6] McCarroll, S. A. et al., Integrated detection and population-genetic analysis of SNPs and copy number variation, Nat Genet Vol. 40(10):1166-1174 (2008)