LowPass Copy number analysis (GISTIC2)
Stomach and Esophageal carcinoma (Primary solid tumor)
02 April 2015  |  analyses__2015_04_02
Maintainer Information
Citation Information
Maintained by Spring Yingchun Liu (Broad Institute)
Cite as Broad Institute TCGA Genome Data Analysis Center (2015): LowPass Copy number analysis (GISTIC2). Broad Institute of MIT and Harvard. doi:10.7908/C1MP52DN
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 139 tumor samples used in this analysis: 21 significant arm-level results, 17 significant focal amplifications, and 27 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 - 17 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
11q13.3 6.5369e-18 6.5369e-18 chr11:69380205-70286916 10
19q12 5.0566e-10 5.0566e-10 chr19:29845736-30461073 6
8q24.21 4.903e-08 4.903e-08 chr8:128126169-128865434 5
12q15 5.4788e-08 5.4788e-08 chr12:68032120-70142158 20
7q21.2 8.2497e-05 8.2497e-05 chr7:90901353-96846114 45
7p11.2 8.7179e-05 8.7179e-05 chr7:55036385-55593325 3
12p12.1 8.7179e-05 8.7179e-05 chr12:24832433-25939847 9
18q11.2 0.00019652 0.00019652 chr18:19444890-20134873 6
8p23.1 0.00026018 0.00026018 chr8:10975654-12619253 30
20q13.2 0.00039586 0.00039586 chr20:51900884-52852518 6
17q12 0.0085145 0.0085145 chr17:35621565-40086266 125
6p21.1 0.013064 0.013064 chr6:43508397-44243311 19
11p13 0.021344 0.021344 chr11:34942364-35672424 6
1q42.3 0.03918 0.03918 chr1:234826558-235344760 6
10q26.13 0.043345 0.043345 chr10:122709888-123893564 5
13q22.1 0.068648 0.068648 chr13:73614329-74325003 5
15q26.1 0.086612 0.086612 chr15:87285740-102531392 116
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 11q13.3.

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

Genes
CCND1
MIR548K
FGF3
CTTN
FGF4
PPFIA1
FADD
FGF19
ANO1
ORAOV1
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 19q12.

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

Genes
C19orf12
POP4
CCNE1
URI1
PLEKHF1
VSTM2B
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 8q24.21.

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

Genes
MYC
POU5F1B
CASC8
CCAT1
PVT1
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 12q15.

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

Genes
MDM2
RN7SL804P
SLC35E3
SNORA70G
DYRK2
CPM
IFNG
LYZ
RAP1B
YEATS4
CCT2
FRS2
CPSF6
IL22
IL26
MDM1
NUP107
RAB3IP
BEST3
LRRC10
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 7q21.2.

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

Genes
CDK6
AKAP9
RN7SL252P
SHFM1
MIR591
PON1
snoU13|ENSG00000238384.1
RN7SKP129
GNG11
MIR489
MIR653
RN7SL7P
GATAD1
CALCR
KRIT1
COL1A2
CYP51A1
DLX5
DLX6
DYNC1I1
GNGT1
PDK4
PEX1
PON2
PON3
MTERF
TFPI2
SGCE
SLC25A13
BET1
PEG10
ASB4
ANKIB1
SAMD9
PPP1R9A
CCDC132
ACN9
CASD1
RBM48
SAMD9L
HEPACAM2
FAM133B
LRRD1
C7orf76
MIR4652
Genes in Wide Peak

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

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

Genes
EGFR
LANCL2
VOPP1
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 12p12.1.

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

Genes
KRAS
RN7SKP262
RN7SL38P
BCAT1
LRMP
CASC1
LYRM5
IFLTD1
C12orf77
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 18q11.2.

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

Genes
snoU13|ENSG00000238907.1
RNU6ATAC20P
RNA5SP451
GATA6
MIB1
CTAGE1
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 8p23.1.

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

Genes
FAM86B2
FAM66A
RNA5SP254
FAM66D
RNA5SP253
DEFB130|ENSG00000233050.1
DEFB134
C8orf49
LINC00208
RN7SL293P
C8orf12
LINC00529
BLK
CTSB
FDFT1
GATA4
MTMR9
FAM167A
SLC35G5
FAM86B1
LONRF1
TDH
DEFB130|ENSG00000232948.1
NEIL2
XKR6
USP17L2
DEFB135
DEFB136
ZNF705D
MIR5692A2
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 20q13.2.

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

Genes
CYP24A1
PFDN4
ZNF217
BCAS1
TSHZ2
MIR4756
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 17q12.

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

Genes
RARA
ERBB2
LASP1
MLLT6
RN7SL871P
RN7SL399P
RNA5SP442
EIF1
KRT42P
LINC00974
KRT223P
KRT222
KRT222
RNA5SP441
GJD3
RNY4P8
SNORD124
IKZF3
MIR4728
PNMT
TCAP
NEUROD2
ARL5C
LINC00672
SNORA21|ENSG00000199293.1
SNORA21|ENSG00000252699.1
RPL23
RNA5SP440
CISD3
MIR4726
RN7SL102P
RN7SL458P
SOCS7
ACACA
ACLY
CACNB1
CDC6
CCR7
CSF3
GAST
GRB7
IGFBP4
JUP
KRT9
KRT10
KRT12
KRT13
KRT14
KRT15
KRT16
KRT17
KRT19
KRT31
KRT32
KRT33A
KRT33B
KRT34
KRT35
MED1
PSMB3
PSMD3
RPL19
SMARCE1
TADA2A
HNF1B
THRA
TOP2A
PCGF2
PIP4K2B
KRT38
KRT37
KRT36
HAP1
NR1D1
MED24
LEPREL4
STARD3
DDX52
DUSP14
SYNRG
CASC3
KRT23
RAPGEFL1
CDK12
KRT20
CWC25
KLHL11
GSDMB
PLXDC1
ARHGAP23
FKBP10
SRCIN1
PPP1R1B
TBC1D3F
MIEN1
MRPL45
TNS4
FBXL20
PGAP3
ORMDL3
NT5C3B
ZPBP2
KRT40
WIPF2
KRT25
TMEM99
KRT28
KRT24
C17orf78
GSDMA
KLHL10
MSL1
KRT27
LRRC37A11P
STAC2
KRT26
C17orf98
KRT39
GPR179
FBXO47
TBC1D3
C17orf96
LRRC3C
MIR4734
MIR4727
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 6p21.1.

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

Genes
TMEM151B
RSPH9
SCARNA15|ENSG00000252218.1
SLC29A1
HSP90AB1
NFKBIE
POLH
VEGFA
MAD2L1BP
CAPN11
GTPBP2
MRPS18A
TMEM63B
XPO5
MRPL14
C6orf223
SLC35B2
TMEM151B
MIR4647
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 11p13.

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

Genes
MIR1343
CD44
SLC1A2
PDHX
FJX1
PAMR1
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 1q42.3.

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

Genes
SNORA14B
RN7SL668P
RNY4P16
TOMM20
RBM34
ARID4B
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 10q26.13.

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

Genes
FGFR2
RN7SKP167
TACC2
ATE1
NSMCE4A
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 13q22.1.

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

Genes
LINC00392
LINC00393
RNY1P8
KLF5
KLF12
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 15q26.1.

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

Genes
BLM
IDH2
NTRK3
CRTC3
DDX11L9
WASH3P
FAM138E
OR4F13P
RN7SL209P
DNM1P47
snoU13|ENSG00000238502.1
LINS
RNA5SP402
RN7SL484P
DKFZP779J2370
MIR4714
RNA5SP401
RN7SL677P
RN7SKP181
RN7SKP254
MIR1469
LINC00924
MIR3175
RN7SL599P
LINC00930
snoU109|ENSG00000239197.1
snoU13|ENSG00000238981.1
RN7SL363P
SNORD18|ENSG00000200677.1
ZNF774
GABARAPL3
RN7SL736P
CIB1
RN7SL346P
RN7SL755P
C15orf38
MIR5009
MIR5094
MESP1
LINC00928
LINC00925
ISG20
ACAN
ALDH1A3
ANPEP
CHD2
FES
IGF1R
MAN2A2
MEF2A
MFGE8
FURIN
PCSK6
PLIN1
POLG
RLBP1
SNRPA1
NR2F2
ST8SIA2
PEX11A
IQGAP1
PRC1
SV2B
AP3S2
SEMA4B
ABHD2
CHSY1
SYNM
VPS33B
MRPL46
OR4F4
SLCO3A1
NGRN
RHCG
DET1
FANCI
MCTP2
VIMP
UNC45A
RGMA
WDR93
AEN
TTC23
MRPS11
LRRK1
TM2D3
TICRR
RCCD1
ARRDC4
LINC00923
TARSL2
LRRC28
AGBL1
ASB7
LYSMD4
PGPEP1L
C15orf32
HAPLN3
MESP2
SPATA8
LINC00052
ADAMTS17
DNM1P46
CERS3
FAM169B
KIF7
ZNF710
HDDC3
SPATA41
GDPGP1
OR4F6
OR4F15
FAM174B
TTLL13
MIR1179
MIR3174

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 - 27 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 1.9468e-27 5.3665e-27 chr9:21957042-22000469 2
16q23.1 3.6456e-06 3.6456e-06 chr16:78585111-78667556 1
3p14.2 3.1824e-06 1.3139e-05 chr3:61026842-61080715 1
6p25.3 5.4164e-05 5.4164e-05 chr6:1867395-2146300 1
9p23 0.00025686 0.0015919 chr9:9455034-9652323 1
2q37.2 0.0011053 0.0017334 chr2:236493901-236989888 2
5q12.1 0.0001632 0.0017975 chr5:58920396-59451270 2
7q36.1 0.0037914 0.0094915 chr7:143818945-159138663 124
3p11.1 0.0044751 0.018747 chr3:90310767-93822733 5
10q23.31 0.023967 0.023967 chr10:89484732-89784491 7
4q34.3 0.0042965 0.028228 chr4:170615980-191154276 98
1p36.11 0.049091 0.061213 chr1:17955159-31516661 225
7q31.1 0.01801 0.10659 chr7:110654408-111357931 3
11p15.5 0.11061 0.11061 chr11:1-5762364 164
22q13.31 0.11061 0.11061 chr22:45529034-51304566 71
20p12.1 0.11816 0.11816 chr20:14610501-15195018 1
18q21.2 0.1231 0.1231 chr18:35288600-78077248 182
17q24.3 0.13206 0.13206 chr17:70408044-70815798 4
3p26.2 0.11395 0.14943 chr3:1-7986922 21
Xp21.1 0.1654 0.1654 chrX:31745409-32347672 2
2q32.1 0.097933 0.16881 chr2:186229991-187560477 5
11q24.1 0.17218 0.17218 chr11:97097179-135006516 335
5q21.1 0.057697 0.18765 chr5:59987575-132452063 350
1p21.1 0.12593 0.19792 chr1:72629373-150045973 420
2q22.1 0.15163 0.21075 chr2:122633021-167393329 184
4q22.1 0.006754 0.21626 chr4:91984570-92330029 1
4q22.1 0.021945 0.71186 chr4:1-191154276 959
Genes in Wide Peak

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

Table S18.  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 16q23.1.

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

Genes
WWOX
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 3p14.2.

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

Genes
FHIT
Genes in Wide Peak

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

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

Genes
GMDS
Genes in Wide Peak

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

Table S22.  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 2q37.2.

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

Genes
RN7SL204P
AGAP1
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 5q12.1.

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

Genes
MIR582
PDE4D
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 7q36.1.

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

Genes
EZH2
LINC00689
MIR595
RN7SL142P
SHH
RN7SKP280
HTR5A
RN7SL845P
RN7SL811P
SNORA26|ENSG00000212590.1
snoU13|ENSG00000238557.1
RNA5SP250
FABP5P3
snoU13|ENSG00000239045.1
RN7SL76P
MIR3907
MIR671
IQCA1P1
CDK5
SSPO
SNORD112|ENSG00000252557.1
RN7SL521P
RNY1
RNY3
RNY4
RNY5
RN7SL569P
RN7SL72P
U3|ENSG00000199370.1
RN7SL456P
RNA5SP249
RN7SL207P
RN7SKP174
RNU6ATAC40P
OR2A9P
OR2A20P
AOC1
DPP6
EN2
GBX1
MNX1
INSIG1
KCNH2
NOS3
PTPRN2
RARRES2
RHEB
SLC4A2
SMARCD3
VIPR2
XRCC2
ARHGEF5
ZNF212
ZNF282
CUL1
ASIC3
PDIA4
UBE3C
DNAJB6
ABCF2
FASTK
ABCB8
PAXIP1
CNTNAP2
GIMAP2
TPK1
ZNF777
TMEM176B
REPIN1
PRKAG2
NUB1
CHPF2
NCAPG2
WDR60
GIMAP4
GIMAP5
TMEM176A
ACTR3B
ESYT2
ZNF398
KMT2C
GALNT11
LMBR1
NOM1
LRRC61
ZNF767
TMUB1
KRBA1
ZBED6CL
AGAP3
C7orf13
NOBOX
OR2A14
ZNF786
ASB10
RNF32
GIMAP8
CRYGN
ZNF425
ZNF746
ATP6V0E2
RBM33
GALNTL5
GIMAP7
ZNF467
GIMAP1
C7orf33
CNPY1
ZNF775
ATG9B
BLACE
OR2A1
WDR86
OR2A7
OR2A42
ARHGEF35
GIMAP6
ZNF862
ACTR3C
CTAGE4
CTAGE8
ZNF783
MIR548F4
MIR5707
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 3p11.1.

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

Genes
NSUN3
PROS1
ARL13B
DHFRL1
STX19
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 10q23.31.

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

Genes
PTEN
SNORD74|ENSG00000200891.1
RN7SL78P
CFL1P1
PAPSS2
ATAD1
KLLN
Genes in Wide Peak

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

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

Genes
DUX4
RNA5SP175
RNA5SP174
HSP90AA4P
CYP4V2
SNORA31|ENSG00000253013.1
TLR3
snoU13|ENSG00000239034.1
PDLIM3
UFSP2
SNORD79
RN7SL28P
snoU13|ENSG00000239116.1
snoU13|ENSG00000238596.1
snoU13|ENSG00000238319.1
U3|ENSG00000252048.1
FAM92A1P2
RN7SKP67
RN7SKP13
LINC00290
SNORD65|ENSG00000212191.1
RNA5SP173
snoU13|ENSG00000252388.1
RNA5SP172
RN7SKP136
SNORA51|ENSG00000201516.1
SCRG1
HMGB2
MIR548T
RN7SL253P
RNU6ATAC13P
HSP90AA6P
AGA
SLC25A4
CASP3
CLCN3
DCTD
F11
ACSL1
FAT1
FRG1
GPM6A
HPGD
ING2
IRF2
KLKB1
MTNR1A
VEGFC
GLRA3
SORBS2
SAP30
HAND2
MFAP3L
ADAM29
FAM149A
FBXO8
AADAT
GALNT7
CLDN22
C4orf27
NEIL3
CDKN2AIP
TENM3
LRP2BP
STOX2
KIAA1430
SPCS3
TRAPPC11
MLF1IP
WWC2
CEP44
SNX25
WDR17
ZFP42
SPATA4
ENPP6
ASB5
RWDD4
CCDC111
TRIML2
CCDC110
TRIML1
ANKRD37
HELT
C4orf47
DUX4L4
GALNTL6
FRG2
DUX4L7
DUX4L6
DUX4L5
DUX4L3
DUX4L2
CLDN24
MIR1305
MIR4276
MIR3945
MIR4455
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 1p36.11.

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

Genes
PAX7
ARID1A
MDS2
SNORD85
SNORD103B
SNORD103A
SDC3
RN7SKP91
MIR4420
SCARNA24|ENSG00000252777.1
RNU11
RAB42
SNORD99
SNHG12
snoU13|ENSG00000238821.1
SNORA73B
RNU6ATAC27P
RN7SL559P
SCARNA1
GPN2
ZDHHC18
RN7SL165P
RN7SL501P
snoU13|ENSG00000238316.1
RN7SL679P
MIR1976
HMGN2
RN7SL490P
AIM1L
SH3BGRL3
ZNF593
SCARNA18|ENSG00000252691.1
SCARNA17|ENSG00000252190.1
MAN1C1
snoU13|ENSG00000238889.1
SYF2
snoU13|ENSG00000238986.1
RN7SL857P
snoU13|ENSG00000238538.1
RN7SL24P
RN7SL532P
MIR3115
MIR4684
LINC00339
RN7SL186P
RN7SL768P
RN7SL386P
RN7SL421P
MIR1256
UBXN10
PLA2G2C
PLA2G2D
PLA2G5
RN7SL304P
PLA2G2E
snoU13|ENSG00000239027.1
RN7SL277P
RN7SL85P
AKR7A2
AKR7A3
MIR1290
MIR4695
ALPL
C1QA
C1QB
C1QC
CAPZB
RUNX3
CDA
CDC42
CD52
RCC1
CNR2
DDOST
E2F2
ECE1
EPB41
EPHA8
EPHB2
EXTL1
EYA3
FGR
FUCA1
IFI6
GALE
SFN
GPR3
HMGCL
HSPG2
HTR1D
HTR6
ID3
STMN1
MATN1
NBL1
OPRD1
PAFAH2
PLA2G2A
PPP1R8
PTAFR
RAP1GAP
RHCE
RHD
RPA2
RPL11
RPS6KA1
SRSF4
SLC9A1
TAF12
TCEA3
TCEB3
SLC30A2
LUZP1
LAPTM5
SNHG3
NR0B2
FCN3
ALDH4A1
EIF4G3
MAP3K6
THEMIS2
PUM1
ZBTB40
PTPRU
CELA3A
WASF2
HNRNPR
SRRM1
CNKSR1
GMEB1
NUDC
SRSF10
RCAN3
LYPLA2
DNAJC8
KDM1A
WDTC1
EMC1
OTUD3
UBR4
CELA3B
TMEM50A
STX12
CLIC4
LDLRAP1
AHDC1
SMPDL3B
HP1BP3
MECR
MRTO4
YTHDF2
WNT4
RNF186
MED18
PQLC2
TRNAU1AP
XKR8
ARHGEF10L
TMEM57
CAMK2N1
ASAP3
PNRC2
PIGV
MTFR1L
C1orf63
PITHD1
NIPAL3
SEPN1
KIF17
GRHL3
IL22RA1
GPATCH3
PLA2G2F
CEP85
PINK1
PHACTR4
AUNIP
MUL1
LIN28A
FAM110D
DHDDS
ZNF436
TAS1R2
ACTL8
SESN2
TMEM222
USP48
NBPF3
TRIM63
SYTL1
IGSF21
STPG1
UBXN11
ATPIF1
FAM46B
C1orf172
IFFO2
MYOM3
KLHDC7A
VWA5B1
C1orf213
PDIK1L
IFNLR1
FAM43B
PAQR7
FAM76A
AKR7L
TMCO4
ZNF683
CATSPER4
TRNP1
CD164L2
TMEM200B
SH2D5
NCMAP
LDLRAD2
MINOS1
LACTBL1
C1orf234
MIR4253
MIR3917
MIR4419A
MIR4425
MIR4418
MIR378F
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 7q31.1.

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

Genes
snoU13|ENSG00000238922.1
LRRN3
IMMP2L
Genes in Wide Peak

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

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

Genes
CARS
HRAS
NUP98
TRIM34
OR51J1
OR51B5
HBG1
HBBP1
OR52A4
OR51H1P
SNORA62|ENSG00000201980.1
OR51C1P
SNORA7|ENSG00000206976.1
snoU13|ENSG00000238686.1
TRPC2
TSSC2
SNORA54
SLC22A18AS
KCNQ1OT1
RPL26P30
C11orf21
MIR483
H19
C11orf89
FAM99B
MOB2
MUC5AC
SNORA52
RPLP2
TMEM80
SCT
MIR210HG
RN7SL838P
ODF3
AP2A2
RHOG
ART1
ASCL2
CD81
CD151
CDKN1C
CTSD
DRD4
DUSP8
HBB
HBD
HBE1
HBG2
IGF2
INS
IRF7
KCNQ1
LSP1|ENSG00000130592.9
MUC2
MUC6
NAP1L4
SLC22A18
POLR2L
PSMD13
RNH1
MRPL23
RRM1
TRIM21
STIM1
TALDO1
TH
TSPAN4
TNNI2
TNNT3
PHLDA2
ZNF195
RASSF7
IFITM1
BRSK2
TSPAN32
TSSC4
TRIM22
IFITM3
DEAF1
IFITM2
PKP3
SIRT3
OR52A1
PGAP2
TRPM5
UBQLN3
BET1L
CEND1
CDHR5
TOLLIP
TRIM68
PIDD
KCNQ1DN
MMP26
CHRNA10
PNPLA2
PHRF1
SIGIRR
RIC8A
EPS8L2
CHID1
OR51G1
OR51B4
OR51B2
SLC25A22
ATHL1
OR51G2
OR51E2
PTDSS2
TRIM5
SYT8
OSBPL5
LRRC56
MRGPRE
ART5
TRIM6
OR52E2
OR52J3
OR51L1
OR51A7
OR51S1
OR51F2
OR52R1
OR52M1
OR52K2
OR52B4
C11orf40
OR52I2
OR51E1
UBQLNL
SCGB1C1
NLRP6
C11orf35
OR51F1
OR51V1
EFCAB4A
ANO9
B4GALNT4
OR52B6
PDDC1
MRGPRG
IFITM5
FAM99A
OR56B1
OR52K1
OR52I1
OR51D1
OR52A5
OR51B6
OR51M1
OR51Q1
OR51I1
OR51I2
OR52D1
OR52H1
OR51T1
OR51A4
OR51A2
IFITM10
MIR210
MUC5B
MIR4298
MIR4686
MIR4687
Genes in Wide Peak

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

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

Genes
ARSA
RN7SL500P
DENND6B
TTLL8
ALG12
RN7SKP252
CDPF1
C22orf26
LINC00899
MIR4762
MIR1249
ACR
CHKB
CPT1B
TYMP
FBLN1
PPARA
MAPK11
MAPK12
SBF1
UPK3A
WNT7B
CELSR1
PPP6R2
ZBED4
SCO2
PKDREJ
NUP50
RABL2B
GRAMD4
MLC1
KIAA0930
MAPK8IP2
PLXNB2
BRD1
TBC1D22A
ATXN10
FAM19A5
RIBC2
SMC1B
NCAPH2
GTSE1
MOV10L1
FAM118A
TTC38
MIOX
TRMU
PANX2
CERK
CRELD2
ADM2
TRABD
HDAC10
SHANK3
TUBGCP6
LMF2
KLHDC7B
C22orf34
FLJ27365
LINC00898
IL17REL
MIRLET7A3
MIRLET7B
PIM3
ODF3B
SYCE3
MIR3201
MIR3619
MIR3667
MIR4763
MIR4535
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 20p12.1.

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

Genes
MACROD2
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 18q21.2.

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

Genes
BCL2
MALT1
RBFA
RBFADN
SALL3
RNA5SP461
SNORA25|ENSG00000199392.1
GALR1
LINC00683
ZNF516
SMIM21
ZADH2
RN7SL551P
RN7SL401P
MIR548AV
RNA5SP460
RN7SL795P
snoU13|ENSG00000238988.1
RN7SL705P
RNF152
RN7SL342P
OACYLP
U8|ENSG00000199713.1
RN7SL112P
SNORD28|ENSG00000252284.1
FECH
U3|ENSG00000212539.1
TXNL1
SNORA73|ENSG00000201816.1
RNA5SP459
SNORA37
DCC
snoU13|ENSG00000238885.1
RN7SL695P
ME2
RNA5SP458
RN7SL310P
RNA5SP457
SCARNA18|ENSG00000252139.1
SCARNA17|ENSG00000251992.1
SCARNA17|ENSG00000267322.1
SNORD58B
SNORD58A
SNORD58C
C18orf32
MIR4744
MIR4743
RNA5SP456
IER3IP1
RNF165
RN7SKP26
RNA5SP455
RNA5SP454
LINC00907
PIK3C3
LINC00669
RN7SKP182
ATP5A1
CDH7
CYB5A
KDSR
GRP
LMAN1
SMAD2
SMAD4
SMAD7
MBD1
MBP
MC4R
MYO5B
NARS
NFATC1
SERPINB2
ATP8B1
SERPINB5
SERPINB8
SERPINB10
SERPINB13
PMAIP1
MAPK4
RAB27B
RIT2
RPL17
SERPINB3
SERPINB4
SLC14A1
SYT4
TCF4
ZNF236
SLC14A2
SERPINB7
TNFRSF11A
MBD2
PSTPIP2
PIAS2
CTDP1
SOCS6
LIPG
ONECUT2
VPS4B
CTIF
TSHZ1
ACAA2
CD226
TXNL4A
POLI
ADNP2
PHLPP1
NEDD4L
WDR7
PIGN
RTTN
SETBP1
KCNG2
CDH20
CDH19
TIMM21
ST8SIA5
RAX
CXXC1
ST8SIA3
IER3IP1
TCEB3B
MEX3C
TMX3
DYM
ZCCHC2
ZNF532
ELAC1
ZNF407
CNDP2
KIAA1468
EPG5
CCDC102B
PQLC1
CCDC68
NETO1
KATNAL2
MRO
HDHD2
PARD6G
CNDP1
SERPINB12
SERPINB11
SEC11C
DSEL
HAUS1
ALPK2
LOXHD1
FAM69C
STARD6
C18orf25
CCBE1
CBLN2
C18orf54
TCEB3C
FBXO15
ZBTB7C
SKA1
CCDC11
GTSCR1
DOK6
LINC00305
DYNAP
BOD1L2
SIGLEC15
LINC00908
HMSD
CPLX4
ATP9B
LINC00909
MIR122
HSBP1L1
C18orf63
SKOR2
TCEB3CL
MIR1539
MIR4319
TCEB3CL2
MIR4527
MIR4529
MIR5011
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 17q24.3.

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

Genes
SCARNA24|ENSG00000252274.1
RN7SKP180
LINC00511
SLC39A11
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 3p26.2.

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

Genes
RN7SL553P
snoU13|ENSG00000239126.1
EGOT
SNORA43|ENSG00000253049.1
RN7SKP144
RN7SL120P
GRM7
IL5RA
ITPR1
SETMAR
BHLHE40
EDEM1
CHL1
CNTN6
TRNT1
CRBN
ARL8B
LRRN1
CNTN4
SUMF1
MIR4790
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for Xp21.1.

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

Genes
RNA5SP501
DMD
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 2q32.1.

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

Genes
U8|ENSG00000212581.1
ITGAV
ZC3H15
FAM171B
FSIP2
Genes in Wide Peak

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

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

Genes
DDX6
PCSK7
SDHD
BIRC3
ATM
CBL
DDX10
FLI1
PAFAH1B2
POU2AF1
SDHD
ARHGEF12
snoU13|ENSG00000238693.1
RNU6ATAC12P
RN7SL167P
LINC00167
KCNJ5
RN7SKP279
RN7SKP121
MIR3167
snoU13|ENSG00000238855.1
RN7SL351P
KRT18P59
SLC37A2
RNA5SP352
TBRG1
OR10D3
U8|ENSG00000200496.1
SNORD14C
SNORD14D
SNORD14E
snoU13|ENSG00000239079.1
RNU4ATAC5P
RNU4ATAC10P
SC5D
TBCEL
OAF
THY1
MFRP
ACA64|ENSG00000252119.1
HINFP
C2CD2L
MIR3656
RPS25
RN7SL529P
RN7SL688P
BCL9L
CXCR5
TTC36
RN7SL86P
CD3G
MPZL3
TMPRSS4
SCARNA11|ENSG00000252992.1
RNY4P6
ZNF259
snoU13|ENSG00000238625.1
LINC00900
snoU13|ENSG00000239153.1
ACA59|ENSG00000252870.1
snoU13|ENSG00000238724.1
ATF4P4
snosnR66
C11orf34
RNA5SP351
HSPB2
ALG9
ALG9
RN7SKP273
SIK2
RNA5SP350
SNORD39|ENSG00000264997.1
RNA5SP349
RNA5SP348
MMP12
WTAPP1
snoU13|ENSG00000239154.1
snoU13|ENSG00000252679.1
MIR3920
snoU13|ENSG00000238388.1
RN7SKP115
RN7SL222P
RN7SKP53
RNA5SP347
ACAT1
ACRV1
BIRC2
APLP2
APOA1
APOA4
APOC3
ARCN1
FXYD2
CASP1
CASP4
CASP5
CD3D
CD3E
CHEK1
CRYAB
DLAT
DPAGT1
DRD2
ETS1
FDX1
SLC37A4
GRIA4
GRIK4
GUCY1A2
H2AFX
HMBS
HSPA8
HTR3A
IL10RA
IL18
STT3A
KCNJ1
VWA5A
MCAM
KMT2A
MMP1
MMP3
MMP7
MMP8
MMP10
MMP13
NCAM1
NFRKB
NNMT
NPAT
NRGN
OPCML
PGR
PPP2R1B
PTS
PVRL1
RDX
SCN2B
SCN4B
ST3GAL4
SLN
SORL1
SRPR
ST14
TAGLN
TECTA
TRPC6
UPK2
ZBTB16
ZNF202
CUL5
BARX2
USP2
HTR3B
ZW10
MMP20
UBE4A
EI24
FEZ1
ARHGAP32
RBM7
MPZL2
YAP1
HYOU1
ATP5L
ADAMTS8
TREH
CEP164
IGSF9B
EXPH5
PHLDB1
NCAPD3
SIK3
VSIG2
BACE1
TRIM29
CADM1
POU2F3
REXO2
OR8B8
TIMM8B
OR8B2
ACAD8
B3GAT1
DCPS
ZBTB44
THYN1
DDX25
NTM
CDON
SIDT2
TRAPPC4
SPA17
FXYD6
CNTN5
SIAE
C11orf71
ROBO4
SLC35F2
RAB39A
BTG4
NXPE4
TTC12
C11orf57
ELMOD1
FOXRED1
SCN3B
VPS11
TEX12
CRTAM
IFT46
PRDM10
DSCAML1
GRAMD1B
KIAA1377
ARHGAP20
USP28
CARD18
AASDHPPT
PKNOX2
TP53AIP1
MMP27
ABCG4
ROBO3
C11orf1
RNF26
FAM118B
DYNC2H1
NLRX1
MSANTD2
CLMP
PDZD3
C11orf63
CCDC15
PDGFD
TMPRSS5
PUS3
MFRP
JAM3
BCO2
TMEM133
TMPRSS13
DCUN1D5
MSANTD4
KIRREL3
BUD13
TMEM25
RPUSD4
UBASH3B
C11orf70
DIXDC1
ZC3H12C
GLB1L2
ESAM
ALKBH8
FDXACB1
C11orf52
VPS26B
GLB1L3
TIRAP
CARD16
C1QTNF5
TMEM123
PANX3
APOA5
TMEM45B
C11orf93
PIH1D2
NXPE1
NXPE2
AMICA1
ARHGAP42
KBTBD3
CWF19L2
KDELC2
LAYN
PATE1
C11orf65
ADAMTS15
C11orf45
HYLS1
TMEM218
OR8B12
OR10G8
OR10G9
OR10S1
OR6T1
OR4D5
TMEM136
SPATA19
HEPACAM
ANGPTL5
ANKK1
RNF214
FOXR1
CCDC153
OR8D1
OR8D2
OR8B4
C11orf44
CCDC84
TMEM225
OR8D4
C11orf53
BSX
OR6X1
OR6M1
OR10G4
OR10G7
OR8B3
OR8A1
C11orf87
C11orf92
C11orf88
PATE2
PATE4
SNX19
MIRLET7A2
MIR100
MIR125B1
MIR34B
MIR34C
DDI1
BLID
CARD17
HEPN1
CLDN25
PATE3
MIR4301
CASP12
MIR4697
MIR4493
MIR4491
MIR4492
MIR4693
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 5q21.1.

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

Genes
APC
PIK3R1
HSPA4
LEAP2
UQCRQ
RNA5SP192
snoZ6|ENSG00000253067.1
HINT1
RNA5SP191
RNU6ATAC10P
KIAA1024L
MIR4633
C5orf63
RN7SKP117
RN7SL711P
RN7SL689P
snoU13|ENSG00000239103.1
snoU13|ENSG00000252295.1
snoU13|ENSG00000239067.1
snoU13|ENSG00000239084.1
RNA5SP190
RN7SL174P
TNFAIP8
MIR5706
snoU13|ENSG00000239011.1
DTWD2
ARL14EPL
AP3S1
RN7SKP89
RNU4ATAC13P
ZRSR1
SRP19
FLJ11235
SNORA13
RN7SKP57
CAMK4
SNORA51|ENSG00000207177.1
MIR548F3
TMEM232
RN7SKP230
FER
RN7SKP122
RN7SL782P
SNORA31|ENSG00000252337.1
RNA5SP189
RN7SL255P
LINC00491
LINC00492
RN7SKP68
RNA5SP188
RN7SL802P
MIR548P
RN7SKP62
GPR150
LUCAT1
SNORA70|ENSG00000206958.1
RNA5SP187
RN7SL629P
RN7SKP34
MIR3607
COX7C
NBPF22P
RN7SKP295
SCARNA18|ENSG00000238835.1
RN7SL378P
SSBP2
SNORA31|ENSG00000251828.1
snoU13|ENSG00000239159.1
MTX3
HOMER1
SNORA18|ENSG00000206592.1
RNY3P1
BHMT2
OTP
WDR41
SNORA47
ZBED3
RNU6ATAC36P
S100Z
RN7SL208P
snoU13|ENSG00000238688.1
RNA5SP186
POLK
SNORA40|ENSG00000212363.1
RN7SL814P
MIR4804
RN7SL153P
MIR4803
snoU13|ENSG00000238451.1
GTF2H2B
RN7SL9P
snoU13|ENSG00000238740.1
GUSBP3
RN7SL616P
RN7SL476P
snoU13|ENSG00000238334.1
SNORA50|ENSG00000220986.1
RN7SL103P
7SK|ENSG00000249352.3
U8|ENSG00000212249.2
snoU13|ENSG00000238400.1
SNORA76|ENSG00000252904.1
RN7SL169P
HTR1A
CKS1B|ENSG00000268942.1
KIF2A
RN7SKP157
TRIM23
ARSB
ALDH7A1
BHMT
BTF3
CAST
CCNB1
CCNH
CDK7
CDO1
CETN3
CHD1
CKMT2
ERCC8
CRHBP
HAPLN1
CSF2
CSNK1G3
VCAN
DMXL1
DHFR
EFNA5
F2R
F2RL1
F2RL2
FBN2
FOXD1
GDF9
GLRX
GTF2H2
HEXB
HMGCR
HSD17B4
IL3
IL4
IL5
IL13
IRF1
KCNN2
TNPO1
LMNB1
LNPEP
LOX
CD180
MAN2A1
MAP1B
MCC
MEF2C
MSH3
NAIP
PAM
PCSK1
PGGT1B
PMCHL2
PPIC
RAD17
RASA1
RASGRF2
RPS23
SLC12A2
SLC22A4
SLC22A5
SMN1
SMN2
SNX2
TAF9
TBCA
NR2F1
THBS4
XRCC4
ST8SIA4
REEP5
SERF1A
ENC1
AP3B1
PDLIM4
PDE8B
P4HA2
ATG12
NREP
SCAMP1
CARTPT
SNCAIP
TTC37
ZFYVE16
PJA2
EDIL3
COL4A3BP
RAD50
LHFPL2
CWC27
NSA2
POLR3G
IQGAP2
KIF3A
ADAMTS6
RHOBTB3
ELL2
SV2C
MRPS27
SEPT8
PPIP5K2
ACSL6
PPWD1
FAM169A
AFF4
DIMT1
SLC27A6
SNX24
DMGDH
TMED7
ISOC1
IPO11
GCNT4
PRR16
COMMD10
RAPGEF6
ERAP1
PHAX
SGTB
ZCCHC10
GIN1
AGGF1
TRIM36
RIOK2
DEPDC1B
BDP1
ERBB2IP
FEM1C
CDC42SE2
NLN
ZNF608
SEMA6A
ARRDC3
ZSWIM6
ANKRA2
MCCC2
EPB41L4A
CENPK
ERAP2
ARHGEF28
FBXL17
YTHDC2
SLC30A5
CENPH
GRAMD3
MCTP1
PTCD2
ELOVL7
TRAPPC13
NUDT12
ATG10
SPATA9
TSSK1B
FAM172A
GPR98
UTP15
ZCCHC9
ANKRD32
GFM2
MEGF10
SPZ1
TSLP
C5orf30
LYRM7
SLC25A46
NDUFAF2
MRPS36
ATP6AP1L
PRDM6
FTMT
FNIP1
MARCH3
FCHO2
LYSMD3
SLCO6A1
PRRC1
JMY
ZNF474
POU5F2
TMEM171
TMEM174
POC5
STARD4
WDR36
ACOT12
SOWAHA
SHROOM1
SREK1
CEP120
TMEM167A
MBLAC2
TMEM161B
SRFBP1
MARVELD2
ARSK
FAM81B
CCDC112
PAPD4
DCP2
LIX1
ZNF366
FAM151B
ADAMTS19
CCDC125
C5orf27
CMYA5
AQPEP
ANKRD31
SERINC5
KIAA0825
C5orf64
RNF180
SREK1IP1
RGMB
RFESD
CHSY3
FAM170A
ANKRD34B
FAM174A
SLCO4C1
MAST4
C5orf48
RGS7BP
LINC00461
C5orf56
CTXN3
SMIM15
CCNI2
MIR583
GTF2H2C
SERF1B
ANKDD1B
LRRC70
FAM159B
TICAM2
MIR2277
MIR4280
MTRNR2L2
MIR3660
MIR3936
OCLN
MIR4460
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 1p21.1.

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

Genes
BCL9
NOTCH2
NRAS
BCL10
PDE4DIP
TRIM33
RBM15
OTUD7B
HIST2H3A
HIST2H2AA3
HIST2H3C
FAM72C
FCGR1C
RNA5SP59
NBPF15
RNA5SP58
NBPF24
RN7SL261P
ACP6
LINC00624
HYDIN2
RNA5SP57
PDZK1P1
RNF115
NUDT17
GNRHR2
NBPF10
SEC22B
RN7SKP88
LINC00623
NBPF8
SRGAP2B
ANKRD20A12P
FCGR1B
HIST2H2BA
LINC00622
snoU13|ENSG00000238679.1
RNA5SP56
WDR3
SNORA40|ENSG00000212266.1
MAN1A2
MIR942
TTF2
RNA5SP55
MIR548AC
ATP1A1OS
U3|ENSG00000221040.1
SNORA42|ENSG00000207502.1
RN7SL420P
RN7SL432P
DENND2C
BCL2L15
LRIG2
snoU13|ENSG00000238975.1
WNT2B
snoU13|ENSG00000238761.1
snoU13|ENSG00000239111.1
ATP5F1
PGCP1
DENND2D
RNA5SP54
CYMP
SNORA25|ENSG00000200536.1
ALX3
RNU6V
GNAI3
KIAA1324
SCARNA2
TMEM167B
TAF13
SPATA42
NBPF5P
SLC25A24P1
RN7SKP285
snoU13|ENSG00000238296.1
SCARNA16|ENSG00000252765.1
DPH5
MIR553
LPPR5
RN7SKP270
RN7SL831P
ALG14
snoU13|ENSG00000238389.1
RN7SL440P
ARHGAP29
GCLM
DNTTIP2
RNA5SP53
DR1
RN7SKP123
RN7SL692P
SNORA51|ENSG00000207022.1
SNORA66|ENSG00000207523.1
SNORA66|ENSG00000251795.1
SNORD21
RN7SL824P
RPAP2
ACTBP12
RN7SL235P
RN7SL653P
BARHL2
U3|ENSG00000199666.1
RN7SKP272
snoU13|ENSG00000239176.1
GBP1P1
GBP6
RN7SL583P
RNA5SP52
RNA5SP51
SNORD81|ENSG00000199934.1
C1orf52
CTBS
SPATA1
RPF1
UOX
SNORA2|ENSG00000199959.1
TTLL7
RN7SKP247
RNA5SP23
RNA5SP22
GIPC2
DNAJB4
RNA5SP21
RN7SL370P
RNA5SP20
ST6GALNAC5
ST6GALNAC3
SNORD45B
SNORD45A
SNORD45C
LRRC53
RNU4ATAC8P
RNA5SP50
RN7SKP19
NEGR1
ABCA4
ACADM
ADORA3
AGL
AMPD1
AMPD2
AMY1A
AMY1B
AMY1C
AMY2A
AMY2B
RHOC
ATP1A1
BRDT
CAPZA1
CASQ2
CD2
CD53
CD58
CHI3L2
CLCA1
CNN3
COL11A1
CRYZ
CSF1
DBT
DPYD
S1PR1
CELSR2
EXTL2
F3
FCGR1A
FMO5
GBP1
GBP2
GBP3
GFI1
GJA5
GJA8
GNAT2
GNG5
GSTM1
GSTM2
GSTM3
GSTM4
GSTM5
GTF2B
HMGCS2
HSD3B1
HSD3B2
IGSF3
CYR61
KCNA2
KCNA3
KCNA10
KCNC4
KCND3
MOV10
MSH4
NGF
NHLH2
OVGP1
PDZK1
PRKAB2
PRKACB
PKN2
PSMA5
PTGFR
PTGFRN
ABCD3
RABGGTB
RAP1A
RPL5
SORT1
SARS
SLC16A1
STXBP3
SYCP1
TBX15
TGFBR3
TSHB
VCAM1
CSDE1
EVI5
CDC7
HIST2H2AC
HIST2H2BE
HIST2H4A
BCAR3
ITGA10
LMO4
CDC14A
RTCA
FPGT
PEX11B
FUBP1
SLC16A4
CD101
CHD1L
CLCA3P
CLCA2
HS2ST1
LPPR4
SV2A
RBM8A
PIGK
TSPAN2
SF3B4
BCAS2
WARS2
CEPT1
PIAS3
VAV3
LAMTOR5
IFI44
POLR3C
TXNIP
AP4B1
PHTF1
AHCYL1
MTMR11
IFI44L
ADAM30
CD160
GLMN
DDX20
VPS45
CLCA4
MTF2
NTNG1
WDR47
USP33
CLCC1
LPHN2
KIAA1107
SLC35A3
LRRC8B
LPAR3
DDAH1
NBPF14
RWDD3
ZZZ3
PTPN22
PHGDH
AK5
CHIA
GPSM2
SLC25A24
TMED5
BOLA1
SH3GLB1
HAO2
SNX7
GPR89B
GPR88
TRMT13
RSBN1
ZNHIT6
GDAP2
FAM46C
PALMD
FNBP1L
ST7L
PRPF38B
LRRC8D
PRMT6
MCOLN3
SLC22A15
RNPC3
LRIF1
CTTNBP2NL
FAM212B
CCBL2
OLFML3
AMIGO1
ODF2L
PTBP2
DNASE2B
ELTD1
HIAT1
DCLRE1B
WDR77
EPS8L3
VTCN1
SIKE1
TRIM45
VANGL1
GPR61
REG4
SYDE2
ZNF644
LRRC8C
POLR3GL
PROK1
PSRC1
STRIP1
ZNF697
NEXN
HENMT1
GBP4
GBP5
SSX2IP
OLFM3
WDR63
MAB21L3
SLC44A3
ATXN7L2
C1orf194
ASB17
TYW3
C1orf173
LRRIQ3
LRRC39
LIX1L
DRAM2
PIFO
C1orf162
SYT6
SAMD13
TMEM56
NBPF4
HFE2
ANKRD35
SLC30A7
NBPF12
CHIAP2
FNDC7
SASS6
PPIAL4A
HFM1
UBL4B
NBPF11
SPAG17
HIPK1
SLC44A5
EPHX4
AKNAD1
MCOLN2
COL24A1
MAGI3
FAM19A3
NBPF16
FAM102B
SYPL2
CYB561D1
ANKRD34A
ZNF326
BTBD8
HIST2H2AB
PPM1J
CCDC18
MYBPHL
FAM73A
GBP7
C1orf146
FAM69A
SLC6A17
C1orf137
NOTCH2NL
FRRS1
NBPF9
MIR197
LHX8
C1orf180
HIST2H2BF
RBMXL1
HIST2H4B
PPIAL4G
PPIAL4D
NBPF6
PPIAL4B
GPR89A
PPIAL4C
HIST2H3D
FAM72B
HIST2H2AA4
FAM72D
GPR89C
MIR760
NBPF20
MIR320B1
TNNI3K
MIR378G
MIR137HG
MIR4423
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 2q22.1.

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

Genes
ERCC3
snoU13|ENSG00000238662.1
RN7SKP152
RN7SL455P
RNA5SP111
RNA5SP110
SNORA70F
FIGN
RNA5SP109
GCA
snoU13|ENSG00000238570.1
TBR1
RN7SL423P
MIR4785
RMRPP3
MARCH7
snoZ5
RN7SL393P
RN7SKP281
GALNT5
snoU13|ENSG00000238481.1
snoU13|ENSG00000238543.1
RNA5SP107
SNORD56|ENSG00000200377.1
ARL5A
RN7SL124P
SNORA48|ENSG00000212181.1
RNA5SP106
snoU13|ENSG00000238860.1
snR65|ENSG00000253036.1
TEX41
RN7SL283P
SNORA72|ENSG00000206901.1
RN7SKP286
NXPH2
RNA5SP105
RN7SKP141
SNORA40|ENSG00000208308.1
snoU13|ENSG00000238337.1
MIR5590
RNA5SP104
RN7SKP93
RN7SKP154
RN7SKP103
RN7SL701P
MIR4784
CYP4F31P
SCARNA4|ENSG00000252829.2
CYP4F30P
CFC1
POTEI
CYP4F43P
snoU13|ENSG00000238546.1
RNA5SP103
RN7SL206P
RNY4P7
RNA5SP102
RN7SKP102
ACVR1
ACVR2A
BIN1
RND3
CACNB4
CCNT2
DARS
DPP4
FAP
GALNT3
GCG
GPD2
GPR17
GPR39
GRB14
GYPC
HNMT
ITGB6
KCNJ3
KIF5C
LCT
LY75
MCM6
MGAT5
MYO7B
NEB
NR4A2
ORC4
POLR2D
PROC
RBMS1
SCN1A
SCN2A
SCN3A
SCN7A
SCN9A
TNFAIP6
CXCR4
PKP4
KYNU
NMI
HS6ST1
CYTIP
ZEB2
CD302
TANK
PSMD14
STAM2
MAP3K2
COBLL1
PLA2R1
RAB3GAP1
UBXN4
R3HDM1
EPC2
PTPN18
MMADHC
C2orf27A
BAZ2B
ARHGEF4
LRP1B
PLEKHB2
RIF1
WDR33
SMPD4
PRPF40A
IWS1
LIMS2
MBD5
ARHGAP15
RPRM
UGGT1
SLC4A10
ERMN
IFIH1
SAP130
GTDC1
TTC21B
CSRNP3
MZT2B
MAP3K19
THSD7B
TMEM163
AMMECR1L
ZRANB3
RAB6C
CCDC115
SFT2D3
TANC1
KCNH7
CCDC74A
CCDC74B
DAPL1
IMP4
TUBA3E
TUBA3D
FMNL2
GALNT13
LYPD1
CNTNAP5
ACMSD
FAM168B
ACVR1C
LYPD6
LYPD6B
CCDC148
ARL6IP6
SLC38A11
WDSUB1
UPP2
AMER3
SPOPL
CYP27C1
NCKAP5
GPR148
RBM43
C2orf27B
POTEE
ANKRD30BL
CFC1B
POTEJ
MZT2A
POTEF
MIR663B
MIR3679
MIR4783
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 4q22.1.

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

Genes
CCSER1
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 4q22.1.

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

Genes
IL2
FGFR3
KDR
KIT
PDGFRA
RAP1GDS1
WHSC1
PHOX2B
DUX4
CHIC2
TET2
FBXW7
FIP1L1
RNA5SP175
RNA5SP174
HSP90AA4P
CYP4V2
SNORA31|ENSG00000253013.1
TLR3
snoU13|ENSG00000239034.1
PDLIM3
UFSP2
SNORD79
RN7SL28P
snoU13|ENSG00000239116.1
snoU13|ENSG00000238596.1
snoU13|ENSG00000238319.1
U3|ENSG00000252048.1
FAM92A1P2
RN7SKP67
RN7SKP13
LINC00290
SNORD65|ENSG00000212191.1
RNA5SP173
snoU13|ENSG00000252388.1
RNA5SP172
RN7SKP136
SNORA51|ENSG00000201516.1
SCRG1
HMGB2
MIR548T
RN7SL253P
RNU6ATAC13P
HSP90AA6P
RNY4P17
SNORA51|ENSG00000207171.1
snoU13|ENSG00000238744.1
RN7SKP188
RN7SL776P
RNA5SP171
RNA5SP170
MIR578
TMEM192
RN7SKP105
U3|ENSG00000251979.1
C4orf45
U3|ENSG00000271817.1
PDGFC
FGB
TLR2
RN7SL419P
TMEM154
RN7SL446P
RNA5SP169
RN7SKP35
SNORD73A
SNORD73
RNA5SP168
RNA5SP167
RNA5SP166
RN7SL254P
MIR4799
RNA5SP165
TMEM184C
RN7SKP235
ANAPC10
HHIP
MIR3139
USP38
snoU13|ENSG00000238695.1
RN7SL152P
UCP1
SNORD112|ENSG00000252300.1
RN7SKP253
RN7SKP237
ACA64|ENSG00000239005.1
RN7SL311P
RN7SL382P
LINC00500
LINC00499
LINC00498
LINC00616
LINC00613
PCDH10
SNORA70|ENSG00000252014.1
RN7SL205P
RNY5P4
snoU13|ENSG00000238802.1
HSPA4L
INTU
RN7SL335P
QRFPR
RN7SKP137
MAD2L1
SNORA11|ENSG00000221245.1
C4orf3
CEP170P1
SNHG8
NT5C3AP1
MTRNR2L13
RN7SL808P
MIR577
RN7SL184P
TIFA
C4orf32
ENPEP
RN7SL275P
CCDC109B
MIR576
RN7SL55P
SNORD112|ENSG00000252566.1
GIMD1
RN7SL89P
SNORA31|ENSG00000252136.1
TACR3
BDH2
CISD2
snoU13|ENSG00000238948.1
RN7SL728P
MIR1255A
ADH1B
PCNAP1
MIR3684
EIF4E
RN7SKP28
RNA5SP164
RN7SKP248
GPRIN3
RN7SKP244
RNU6ATAC31P
IBSP
snoU13|ENSG00000238652.1
RN7SL681P
RN7SKP96
MIR4451
RN7SKP48
RN7SL552P
MRPS18C
snoR442|ENSG00000252834.1
MIR575
LINC00575
SNORD42|ENSG00000202440.1
HNRNPD
SNORA31|ENSG00000252762.1
SNORA75|ENSG00000212620.1
OR7E94P
LINC00989
NAA11
RN7SL127P
MIR5096
snoU13|ENSG00000238816.1
SNORD75|ENSG00000221711.1
MIR548AH
MIR4450
SNORD50|ENSG00000199857.1
CDKL2
BTC
PPBPP2
RN7SL218P
PPBP
PF4
PF4V1
SNORA3|ENSG00000221639.1
RNU6ATAC5P
RNU4ATAC9P
RNA5SP163
snoU13|ENSG00000238318.1
CSN1S2AP
SULT1B1
UGT2A1
UGT2A2
UGT2B10
TMPRSS11BNL
FTLP10
TMPRSS11GP
SNORA62|ENSG00000202374.1
GNRHR
UBA6
TECRL
snoU13|ENSG00000238925.1
snoU13|ENSG00000238541.1
snoU13|ENSG00000238579.1
NOA1
RN7SL357P
RN7SL492P
ARL9
SRP72
RNA5SP162
KIAA1211
RNA5SP161
RN7SKP30
RN7SL822P
RN7SL424P
snoU13|ENSG00000238753.1
GSX2
SNORA26|ENSG00000212490.1
SNORA26|ENSG00000212588.1
DANCR
snoU13|ENSG00000239068.1
NIPAL1
RN7SKP215
snoU13|ENSG00000238301.1
RN7SKP199
RN7SL193P
RN7SL691P
RN7SKP82
SLC30A9
LINC00682
RNA5SP160
snoU13|ENSG00000238351.1
RHOH
SNORA51|ENSG00000201863.1
RNA5SP159
RN7SL558P
SMIM14
MIR5591
RNA5SP158
DTHD1
snoU13|ENSG00000238694.1
RN7SL101P
SNORD74|ENSG00000200999.1
RN7SL16P
snoU13|ENSG00000238383.1
RNA5SP157
FAM184B
MED28
RN7SL315P
snoU13|ENSG00000238536.1
SNORA75|ENSG00000206780.1
ZEB2P1
CD38
FAM200B
RN7SKP170
SNORA63|ENSG00000202449.1
LINC00504
HSP90AB2P
RNA5SP156
HS3ST1
CLNK
RNA5SP155
MIR3138
RNA5SP154
RNA5SP153
USP17L23
USP17L15
FAM90A26
GPR78
RNA5SP152
MIR95
MIR4274
MIR4798
RN7SKP36
GRPEL1
RN7SKP292
S100P
C4orf50
RN7SKP275
RN7SKP113
FAM86EP
LINC00955
LRPAP1
MSANTD1
RN7SL589P
MIR943
SCARNA22
RN7SL671P
SNORA48|ENSG00000212458.1
TMED11P
RN7SL358P
ZNF721
ABCA11P
MIR571
ZNF141
ZNF732
ZNF876P
ZNF718
ZNF595
ADD1
ADH1A
ADH1C
ADH4
ADH5
ADH6
ADH7
ADRA2C
AFM
AFP
AGA
ALB
AMBN
ANK2
SLC25A4
ANXA3
ANXA5
APBB2
AREG
ART3
ATOH1
ATP5I
BMP3
BMPR1B
BST1
CAMK2D
CASP3
CASP6
CCKAR
CCNA2
CCNG2
SCARB2
LRBA
CDS1
CLGN
CENPC
CENPE
CLCN3
CNGA1
CPE
CRMP1
CSN1S1
CSN2
CSN3
CTBP1
CTSO
DGKQ
DCK
DCTD
DHX15
DMP1
DRD5
DSPP
EDNRA
EGF
ELF2
EPHA5
EREG
ETFDH
EVC
F11
FABP2
ACSL1
FAT1
FGA
FGF2
FGF5
FGG
FRG1
GAB1
GABRA2
GABRA4
GABRB1
GABRG1
GAK
GC
GK2
GLRB
GPM6A
GRK4
GRIA2
GRID2
CXCL1
CXCL2
CXCL3
GRSF1
GUCY1A3
GUCY1B3
GYPA
GYPB
GYPE
H2AFZ
HADH
HTT
HGFAC
UBE2K
HMX1
HPGD
HTN1
HTN3
IDUA
CFI
IGFBP7
IGJ
RBPJ
IL8
IL15
ING2
CXCL10
IRF2
KLKB1
LETM1
SMAD1
MANBA
MGST2
CXCL9
AFF1
NR3C2
MSX1
MTNR1A
MTTP
MUC7
MYL5
NDUFC1
NEK1
NFKB1
NPY1R
NPY2R
NPY5R
PCDH7
PDE6B
PDHA2
PET112
PITX2
PKD2
PLRG1
EXOSC9
POLR2B
POU4F2
PPEF2
PPAT
PPID
PPP2R2C
PPP3CA
PRKG2
MAPK10
PTPN13
QDPR
REST
RFC1
RGS12
RNF4
ABCE1
RPL9
RPL34
RPS3A
MSMO1
CXCL6
CXCL11
CXCL5
SFRP2
SGCB
SH3BP2
SNCA
SOD3
SPINK2
SPP1
STATH
SULT1E1
TDO2
TEC
TLL1
TLR1
TRPC3
TXK
UBE2D3
UCHL1
UGDH
UGT2B4
UGT2B7
UGT2B15
UGT2B17
UGT8
VEGFC
WFS1
NELFA
SLBP
GLRA3
ACOX3
SPARCL1
SMARCA5
SORBS2
PRSS12
CPZ
NOP14
FAM193A
USO1
UNC5C
LAMTOR3
PDE5A
SLC4A4
SAP30
INPP4B
PROM1
HERC3
PAPSS1
LDB2
LRAT
AIMP1
NDST3
SLIT2
RAB28
TMPRSS11D
ABCG2
HAND2
ADAMTS3
CLOCK
CEP135
RAPGEF2
KIAA0232
MFAP3L
SEC24D
G3BP2
WDR1
FGFBP1
HNRNPDL
TSPAN5
ENAM
C4orf6
FAM13A
MFSD10
SPRY1
MAEA
TLR6
PCGF3
ATP8A1
SPON2
PGRMC2
SEC24B
TACC3
CXCL13
SLC34A2
MAB21L2
PAICS
MXD4
PDLIM5
RRH
CORIN
UGT2B11
PLK4
PTTG2
CPLX1
HPSE
SLC26A1
NMU
SMR3B
NPFFR2
PPARGC1A
UGT2A1
CCNI
LIAS
ADAM29
PRDM5
LSM6
NUDT6
ANXA10
KLHL2
SEC31A
RUFY3
MMRN1
LIMCH1
WDFY3
PALLD
DCUN1D4
TBC1D9
METAP1
TBC1D1
SEL1L3
KIAA0922
PDS5A
LPHN3
TRIM2
MAN2B2
SLC7A11
CCRN4L
PARM1
FAM149A
RCHY1
ANKRD17
STAP1
FBXL5
FBXO8
SMR3A
NSG1
PPA2
DAPP1
DKK2
NAAA
COQ2
ARFIP1
HPGDS
ZNF330
TMPRSS11E
ZCCHC4
ANAPC4
SPOCK3
LAP3
KLHL5
SEPSECS
COPS4
AADAT
HSD17B11
LEF1
HERC5
KLF3
FAM198B
PLAC8
LARP7
EMCN
MYOZ2
ASIC5
GALNT7
NUDT9
NUP54
STX18
FGFRL1
CLDN22
CYTL1
GAR1
SH3TC1
UGT2B28
RBM47
PCDH18
USP53
OTUD4
DCHS2
ARHGEF38
PIGG
DCAF16
OCIAD1
COMMD8
ODAM
C4orf27
HERC6
MARCH1
BANK1
LARP1B
SDAD1
TMEM33
LGI2
BBS7
NEIL3
PGM2
C4orf19
TBC1D19
PI4K2B
TMEM144
TMA16
BLOC1S4
C4orf21
STK32B
AP1AR
MAML3
CHRNA9
BMP2K
DDX60
CDKN2AIP
LYAR
TENM3
N4BP2
SEPT11
EXOC1
LRP2BP
TMEM165
SLC2A9
FSTL5
SMARCAD1
MEPE
STOX2
PRDM8
UTP3
INTS12
ANKRD50
ATP10D
RNF150
KIAA1239
TBC1D14
SORCS2
CC2D2A
KLHL8
KIAA1430
FNIP2
SLAIN2
SHROOM3
STIM2
SH3RF1
UVSSA
METTL14
WDR19
ZFYVE28
GBA3
ENOPH1
PROL1
OSTC
IL21
RXFP1
AFAP1
GUF1
SPCS3
SCOC
TRAPPC11
NEUROG2
SLC39A8
NCAPG
NDST4
ETNPPL
USP46
MRPL1
RASL11B
ELOVL6
TNIP2
HAUS3
NDNF
FAT4
ARSJ
SRD5A3
ARHGAP10
MLF1IP
THAP9
NSUN7
UGT2A3
GSTCD
MAP9
TNIP3
PHF17
SCD5
DNAJB14
TMEM156
WWC2
FRAS1
NAA15
CWH43
C4orf29
ALPK1
CXXC4
KCNIP4
CEP44
SETD7
PLA2G12A
TLR10
SLC25A31
RAB33B
ARHGAP24
FGFBP2
SNX25
TTC29
MND1
SLC10A7
TKTL2
C4orf17
FAM175A
KIAA1109
MFSD7
TMEM175
ABLIM2
HOPX
COL25A1
LNX1
MGARP
AGPAT9
CBR4
PIGY
TMEM128
CABS1
ZNF518B
FHDC1
PRMT10
CCDC149
DDX60L
YTHDC1
TMEM129
NAF1
MOB1B
FAM114A1
TRMT10A
MRFAP1
TADA2B
TBCK
HTRA3
HELQ
CYP2U1
C1QTNF7
MRFAP1L1
DDIT4L
WDR17
ARAP2
PCAT4
ANTXR2
OCIAD2
SCLT1
C4orf33
TMEM155
PABPC4L
ADAD1
ZFP42
LIN54
SPATA18
TMPRSS11B
GNPDA2
SPATA4
CPEB2
EVC2
AASDH
PDCL2
C4orf36
PACRGL
TRAM1L1
OTOP1
ENPP6
SLC9B2
ASB5
SLC9B1
ZNF827
SH3D19
NFXL1
PAQR3
SHISA3
SCFD2
FAM218A
JAKMIP1
THAP6
C4orf26
KLB
FAM53A
PPM1K
TRMT44
RASGEF1B
SPATA5
BBS12
DCLK2
GPR125
TRIM60
FREM3
MMAA
ZBTB49
TIGD2
RASSF6
RBM46
SGMS2
COX7B2
SYNPO2
C4orf46
SLC10A4
TIGD4
RWDD4
CCDC111
TAPT1
TRIML2
CNOT6L
LCORL
C4orf22
EPGN
ELMOD2
NPNT
CCDC110
MFSD8
CCDC96
BOD1L1
FDCSP
NAP1L5
DCAF4L1
CRIPAK
DOK7
RNF212
COX18
YIPF7
FRYL
RNF175
STPG2
ZAR1
CCDC158
TMPRSS11A
TRIML1
LRRC66
NAT8L
PRSS48
SOWAHB
LRIT3
SLC10A6
HSD17B13
ANKRD37
POLN
KCTD8
SMIM20
BEND4
GRXCR1
TMPRSS11F
TRIM61
HELT
C4orf48
C4orf40
AMTN
CCSER1
MIR302A
MTHFD2L
TMEM150C
GUSBP5
C4orf47
DUX4L4
GALNTL6
MIR302B
MIR302C
MIR302D
MIR367
FRG2
DEFB131
CLRN2
C4orf51
DUX4L7
DUX4L6
DUX4L5
DUX4L3
MIR572
MIR573
MIR574
AREGB
USP17L24
USP17L25
USP17L26
USP17L5
USP17L27
USP17L28
USP17L29
DUX4L2
USP17L30
FAM160A1
RELL1
PSAPL1
MIR297
FAM47E
CLDN24
USP17L10
USP17L11
USP17L12
USP17L13
USP17L17
USP17L18
USP17L19
USP17L20
USP17L21
USP17L22
MIR1269A
MIR1305
MIR548I2
MIR548G
MIR3140
MIR4276
MIR3945
THEGL
MIR4455
MIR4453
MIR378D1
MIR4802
MIR4800
MIR4801
MIR4449
MIR548AG1
MIR4452
FAM47E
MIR5091
MIR5705
PYURF
Arm-level results

Table 3.  Get Full Table Arm-level significance table - 21 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 1300 0.05 -0.762 1 0.10 1.57 0.231
1q 1195 0.16 3.72 0.000496 0.08 0.0367 0.863
2p 624 0.08 -1.87 1 0.02 -3.71 1
2q 967 0.06 -1.54 1 0.04 -2.35 1
3p 644 0.04 -2.98 1 0.22 3.02 0.0104
3q 733 0.20 2.66 0.0174 0.09 -1.15 1
4p 289 0.04 -3.76 1 0.21 1.34 0.299
4q 670 0.00 -4.14 1 0.18 1.71 0.194
5p 183 0.17 -0.213 1 0.16 -0.604 1
5q 905 0.03 -2.75 1 0.19 3.22 0.00846
6p 710 0.07 -1.87 1 0.10 -0.916 1
6q 556 0.06 -2.73 1 0.12 -0.716 1
7p 389 0.39 7.21 2.84e-12 0.02 -3.47 1
7q 783 0.33 7.49 4.75e-13 0.05 -2 1
8p 338 0.31 3.97 0.000206 0.27 2.77 0.0187
8q 551 0.48 11.1 0 0.12 -0.625 1
9p 301 0.10 -1.97 1 0.28 3.3 0.00846
9q 700 0.12 -0.16 1 0.14 0.311 0.796
10p 253 0.18 0.281 1 0.17 -0.118 0.875
10q 738 0.08 -1.43 1 0.12 0.00954 0.863
11p 509 0.06 -2.69 1 0.17 0.604 0.683
11q 975 0.08 -0.673 1 0.12 0.671 0.683
12p 339 0.19 0.696 0.748 0.10 -1.78 1
12q 904 0.11 0.0864 1 0.08 -0.95 1
13q 560 0.21 2.01 0.0881 0.16 0.467 0.753
14q 938 0.06 -1.47 1 0.09 -0.414 0.998
15q 810 0.03 -2.94 1 0.10 -0.451 0.998
16p 559 0.07 -2.35 1 0.15 0.326 0.796
16q 455 0.06 -2.73 1 0.19 1.14 0.393
17p 415 0.11 -1.37 1 0.24 2.42 0.0445
17q 972 0.15 1.91 0.102 0.10 0.0373 0.863
18p 104 0.15 -1.21 1 0.19 -0.0658 0.875
18q 275 0.11 -1.81 1 0.27 3.01 0.0104
19p 681 0.10 -1.09 1 0.19 1.94 0.13
19q 935 0.14 1.48 0.233 0.11 0.164 0.863
20p 234 0.40 6.56 2.16e-10 0.12 -1.28 1
20q 448 0.48 10.5 0 0.01 -3.33 1
21q 258 0.04 -3.49 1 0.30 3.95 0.00154
22q 564 0.09 -1.7 1 0.19 1.43 0.279
Xq 668 0.27 4.51 2.21e-05 0.15 0.603 0.683
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/PrepareGisticDNASeq/STES-TP/15090079/segmentationfile.txt

  • Markers File = /xchip/cga/gdac-prod/tcga-gdac/jobResults/PrepareGisticDNASeq/STES-TP/15090079/markersfile.txt

  • Reference Genome = /xchip/cga/reference/gistic2/hg19_GENCODE_v18_20140127.mat

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

  • Amplification Threshold = 0.3

  • Deletion Threshold = 0.3

  • Cap Values = 2

  • Broad Length Cutoff = 0.5

  • Remove X-Chromosome = 0

  • Confidence Level = 0.99

  • Join Segment Size = 10

  • Arm Level Peel Off = 1

  • Maximum Sample Segments = 10000

  • Gene GISTIC = 0

Table 4.  Get Full Table First 10 out of 139 Input Tumor Samples.

Tumor Sample Names
TCGA-B7-5816-01A-21D-1598-02
TCGA-B7-5818-01A-11D-1598-02
TCGA-BR-4183-01A-02D-1128-02
TCGA-BR-4184-01A-01D-1128-02
TCGA-BR-4187-01A-01D-1128-02
TCGA-BR-4188-01A-01D-1128-02
TCGA-BR-4191-01A-02D-1128-02
TCGA-BR-4201-01A-01D-1128-02
TCGA-BR-4253-01A-01D-1128-02
TCGA-BR-4255-01A-01D-1128-02

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)