Colon/Rectal Adenocarcinoma: Mutation Analysis (MutSig)

Maintained by Dan DiCara (Broad Institute)

Overview

Introduction

This report serves to describe the mutational landscape and properties of a given individual set, as well as rank genes and genesets according to mutational significance. MutSig v2.0 was used to generate the results found in this report.

Working with individual set: COADREAD
Number of patients in set: 224

Input

The input for this pipeline is a set of individuals with the following files associated for each:

An annotated .maf file describing the mutations called for the respective individual, and their properties.
A .wig file that contains information about the coverage of the sample.

Summary

MAF used for this analysis:COADREAD.final_analysis_set.maf
Significantly mutated genes (q ≤ 0.1): 218
Mutations seen in COSMIC: 739
Significantly mutated genes in COSMIC territory: 31
Genes with clustered mutations (≤ 3 aa apart): 0
Significantly mutated genesets: 153
Significantly mutated genesets: (excluding sig. mutated genes):0

Mutation Preprocessing

Read 140 MAFs of type "Broad"
Read 88 MAFs of type "Baylor"
Total number of mutations in input MAFs: 91973
After removing 1369 invalidated mutations: 90604
After removing 1176 noncoding mutations: 89428
After collapsing adjacent/redundant mutations: 82148

Mutation Filtering

Number of mutations before filtering: 82148
After removing 784 mutations outside gene set: 81364
After removing 343 mutations outside category set: 81021
After removing 34 "impossible" mutations in
gene-patient-category bins of zero coverage: 80987

Results

Breakdown of Mutations by Type

Table 1. Get Full Table Table representing breakdown of mutations by type.

type	count
De_novo_Start_InFrame	21
De_novo_Start_OutOfFrame	156
Frame_Shift_Del	1293
Frame_Shift_Ins	808
In_Frame_Del	166
In_Frame_Ins	27
Missense_Mutation	54120
Nonsense_Mutation	5060
Nonstop_Mutation	36
Read-through	10
Silent	19135
Splice_Site	187
Translation_Start_Site	2
Total	81021

Breakdown of Mutation Rates by Category Type

Table 2. Get Full Table A breakdown of mutation rates per category discovered for this individual set.

category	n	N	rate	rate_per_mb	relative_rate
*CpG->T	20389	369939104	0.000055	55	6
*Cp(A/C/T)->mut	21037	3041594232	6.9e-06	6.9	0.75
A->mut	12112	3284997724	3.7e-06	3.7	0.4
*CpG->(G/A)	562	369939104	1.5e-06	1.5	0.16
indel+null	7461	6696531284	1.1e-06	1.1	0.12
double_null	304	6696531284	4.5e-08	0.045	0.0049
Total	61865	6696531284	9.2e-06	9.2	1

Target Coverage for Each Individual

The x axis represents the samples. The y axis represents the exons, one row per exon, and they are sorted by average coverage across samples. For exons with exactly the same average coverage, they are sorted next by the %GC of the exon. (The secondary sort is especially useful for the zero-coverage exons at the bottom).

Figure 1.

Distribution of Mutation Counts, Coverage, and Mutation Rates Across Samples

Figure 2. Patients counts and rates file used to generate this plot: COADREAD.patients.counts_and_rates.txt

CoMut Plot

Figure 3. Get High-res Image The matrix in the center of the figure represents individual mutations in patient samples, color-coded by type of mutation, for the significantly mutated genes. The rate of synonymous and non-synonymous mutations is displayed at the top of the matrix. The barplot on the left of the matrix shows the number of mutations in each gene. The percentages represent the fraction of tumors with at least one mutation in the specified gene. The barplot to the right of the matrix displays the q-values for the most significantly mutated genes. The purple boxplots below the matrix (only displayed if required columns are present in the provided MAF) represent the distributions of allelic fractions observed in each sample. The plot at the bottom represents the base substitution distribution of individual samples, using the same categories that were used to calculate significance.

Significantly Mutated Genes

Column Descriptions:

N = number of sequenced bases in this gene across the individual set
n = number of (nonsilent) mutations in this gene across the individual set
npat = number of patients (individuals) with at least one nonsilent mutation
nsite = number of unique sites having a non-silent mutation
nsil = number of silent mutations in this gene across the individual set
n1 = number of nonsilent mutations of type: *CpG->T
n2 = number of nonsilent mutations of type: *Cp(A/C/T)->mut
n3 = number of nonsilent mutations of type: A->mut
n4 = number of nonsilent mutations of type: *CpG->(G/A)
n5 = number of nonsilent mutations of type: indel+null
p_classic = p-value for the observed amount of nonsilent mutations being elevated in this gene
p_ks = p-value for clustering of mutations (Kolmogorov-Smirnoff test)
p_cons = p-value for enrichment of mutations at evolutionarily most-conserved sites in gene
p_joint = p-value for clustering + conservation
p = p-value (overall)
q = q-value, False Discovery Rate (Benjamini-Hochberg procedure)

Table 3. Get Full Table A Ranked List of Significantly Mutated Genes. Number of significant genes found: 218. Number of genes displayed: 35. Click on a gene name to display its stick figure depicting the distribution of mutations and mutation types across the chosen gene (this feature may not be available for all significant genes).

rank	gene	description	N	n	npat	nsite	nsil	n1	n2	n3	n4	n5	n6	p_classic	p_ks	p_cons	p_joint	p	q
1	APC	adenomatous polyposis coli	1924608	187	160	128	4	6	15	11	0	103	52	<1.00e-15	2e-07	0.87	0.000019	<0.00	<0.00
2	FBXW7	F-box and WD repeat domain containing 7	578816	45	38	28	2	23	6	5	2	9	0	<1.00e-15	0.000029	0.018	0.000024	<0.00	<0.00
3	SMAD4	SMAD family member 4	381472	29	26	22	0	10	6	9	0	3	1	<1.00e-15	0.025	0.00048	0.00016	<0.00	<0.00
4	NRAS	neuroblastoma RAS viral (v-ras) oncogene homolog	131264	20	20	8	0	2	14	4	0	0	0	<1.00e-15	0.000012	0.097	0.000015	<0.00	<0.00
5	FAM123B	family with sequence similarity 123B	743964	27	25	24	2	1	3	4	0	19	0	2.78e-15	0.0013	0.74	0.0037	4.44e-16	1.50e-12
6	TP53	tumor protein p53	289720	122	120	69	2	48	22	12	2	38	0	<1.00e-15	2e-07	2e-07	0	<1.00e-15	<1.50e-12
7	KRAS	v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	158368	96	96	11	0	0	91	4	0	1	0	<1.00e-15	2e-07	0.000072	0	<1.00e-15	<1.50e-12
8	PIK3CA	phosphoinositide-3-kinase, catalytic, alpha polypeptide	736288	40	33	21	2	6	20	14	0	0	0	<1.00e-15	0.0013	2e-06	0	<1.00e-15	<1.50e-12
9	BRAF	v-raf murine sarcoma viral oncogene homolog B1	499744	23	22	4	0	0	0	23	0	0	0	1.29e-12	2e-07	2e-07	0	<1.00e-15	<1.50e-12
10	GGT1	gamma-glutamyltransferase 1	358400	3	3	1	1	0	3	0	0	0	0	0.59	3.8e-06	5.8e-06	0	<1.00e-15	<1.50e-12
11	OSTN	osteocrin	92736	3	3	2	0	2	0	1	0	0	0	0.022	0.25	0.038	0	<1.00e-15	<1.50e-12
12	MUTYH	mutY homolog (E. coli)	383768	2	2	2	3	1	0	0	0	1	0	0.59	0.25	0.022	0	<1.00e-15	<1.50e-12
13	SMAD2	SMAD family member 2	323456	16	15	12	1	3	5	3	0	5	0	1.88e-11	0.0086	0.12	0.0094	5.40e-12	7.48e-09
14	TCF7L2	transcription factor 7-like 2 (T-cell specific, HMG-box)	453708	20	18	18	4	5	5	3	0	7	0	1.12e-10	0.0016	0.069	0.0019	6.47e-12	8.33e-09
15	FAT4	FAT tumor suppressor homolog 4 (Drosophila)	3346084	73	39	73	21	19	30	19	1	4	0	3.97e-08	0.00014	0.42	0.00039	3.97e-10	4.77e-07
16	KIAA1804		540708	18	15	16	0	8	7	1	0	2	0	7.31e-07	0.00028	0.0019	9e-05	1.61e-09	1.82e-06
17	ACVR1B	activin A receptor, type IB	340816	15	14	15	0	4	7	2	0	2	0	7.97e-08	0.051	0.00017	0.00091	1.76e-09	1.86e-06
18	LRP1B	low density lipoprotein-related protein 1B (deleted in tumors)	3172736	75	39	73	18	11	34	22	0	5	3	5.95e-10	0.45	0.77	0.58	7.93e-09	7.94e-06
19	WBSCR17	Williams-Beuren syndrome chromosome region 17	403312	19	19	18	3	10	5	1	0	3	0	3.80e-09	0.078	0.62	0.14	1.18e-08	0.000011
20	MAP2K4	mitogen-activated protein kinase kinase 4	252000	11	11	10	1	3	4	2	0	2	0	2.64e-07	0.011	0.0032	0.0024	1.43e-08	0.000013
21	KRTAP5-5	keratin associated protein 5-5	131768	4	4	1	1	0	0	0	4	0	0	0.000012	0.00053	0.000047	0.000093	2.45e-08	0.000021
22	PCDH9	protocadherin 9	835520	26	22	26	7	3	11	11	0	1	0	1.47e-09	0.92	0.88	1	3.13e-08	0.000026
23	TNFRSF10C	tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain	177840	6	6	2	0	0	6	0	0	0	0	0.000071	4.2e-06	1	0.000026	3.92e-08	0.000031
24	KLHL4	kelch-like 4 (Drosophila)	508704	16	16	16	3	6	8	2	0	0	0	2.06e-08	0.78	0.52	0.81	3.14e-07	0.00024
25	DMD	dystrophin (muscular dystrophy, Duchenne and Becker types)	2608328	47	33	46	6	10	14	14	0	9	0	2.45e-07	0.042	0.78	0.091	4.14e-07	0.00030
26	BTNL8	butyrophilin-like 8	196296	3	3	1	1	0	0	3	0	0	0	0.020	3.4e-06	0.059	1.2e-06	4.48e-07	0.00031
27	PCBP1	poly(rC) binding protein 1	229712	6	6	3	0	0	0	6	0	0	0	0.00087	0.0016	0.0013	0.000046	7.16e-07	0.00048
28	LIFR	leukemia inhibitory factor receptor alpha	754200	24	18	24	5	4	6	9	1	4	0	1.05e-07	0.52	0.52	0.6	1.12e-06	0.00072
29	SOX9	SRY (sex determining region Y)-box 9 (campomelic dysplasia, autosomal sex-reversal)	268720	10	10	10	0	0	0	1	0	8	1	1.17e-06	0.04	0.38	0.061	1.25e-06	0.00078
30	SDK1	sidekick homolog 1, cell adhesion molecule (chicken)	1435964	30	27	28	9	19	7	3	0	1	0	0.000028	0.0019	0.24	0.0036	1.73e-06	0.0010
31	ARID1A	AT rich interactive domain 1A (SWI-like)	1311268	22	21	20	3	2	5	1	1	13	0	1.07e-06	0.093	0.091	0.11	1.93e-06	0.0011
32	ACOT4	acyl-CoA thioesterase 4	239748	3	3	2	1	0	0	0	0	2	1	0.043	4e-07	0.019	3e-06	2.17e-06	0.0012
33	NRXN1	neurexin 1	1042896	24	20	24	11	10	7	4	1	2	0	0.000012	0.016	0.13	0.015	2.85e-06	0.0016
34	CNTN6	contactin 6	711200	22	17	22	3	5	13	2	0	2	0	2.35e-07	0.82	0.96	0.96	3.66e-06	0.0019
35	CDH2	cadherin 2, type 1, N-cadherin (neuronal)	609504	22	16	21	0	3	15	3	1	0	0	3.80e-06	0.035	0.42	0.06	3.71e-06	0.0019

COSMIC analyses

In this analysis, COSMIC is used as a filter to increase power by restricting the territory of each gene. Cosmic version: v48.

Table 4. Get Full Table Significantly mutated genes (COSMIC territory only). To access the database please go to: COSMIC. Number of significant genes found: 31. Number of genes displayed: 10

rank	gene	description	n	cos	n_cos	N_cos	cos_ev	p	q
1	KRAS	v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	96	51	95	11424	1013913	0	0
2	ERBB3	v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian)	14	6	6	1344	6	0	0
3	NRAS	neuroblastoma RAS viral (v-ras) oncogene homolog	20	28	18	6272	17998	0	0
4	FBXW7	F-box and WD repeat domain containing 7	45	91	31	20384	1228	0	0
5	BRAF	v-raf murine sarcoma viral oncogene homolog B1	23	88	20	19712	210160	0	0
6	PIK3CA	phosphoinositide-3-kinase, catalytic, alpha polypeptide	40	184	34	41216	13256	0	0
7	APC	adenomatous polyposis coli	187	838	137	187712	2553	0	0
8	TP53	tumor protein p53	122	823	122	184352	45406	0	0
9	SMAD4	SMAD family member 4	29	159	19	35616	90	0	0
10	KRTAP5-5	keratin associated protein 5-5	4	1	4	224	4	7.4e-13	3.3e-10

Note:

n - number of (nonsilent) mutations in this gene across the individual set.

cos = number of unique mutated sites in this gene in COSMIC

n_cos = overlap between n and cos.

N_cos = number of individuals times cos.

cos_ev = total evidence: number of reports in COSMIC for mutations seen in this gene.

p = p-value for seeing the observed amount of overlap in this gene)

q = q-value, False Discovery Rate (Benjamini-Hochberg procedure)

Clustered Mutations

There were no clustered mutations discovered.

Geneset Analyses

Table 5. Get Full Table A Ranked List of Significantly Mutated Genesets. (Source: MSigDB GSEA Cannonical Pathway Set).Number of significant genesets found: 153. Number of genesets displayed: 10

rank	geneset	description	genes	N_genes	mut_tally	N	n	npat	nsite	nsil	n1	n2	n3	n4	n5	n6	p	q
1	HSA04310_WNT_SIGNALING_PATHWAY	Genes involved in Wnt signaling pathway	APC, APC2, AXIN1, AXIN2, BTRC, CACYBP, CAMK2A, CAMK2B, CAMK2D, CAMK2G, CCND1, CCND2, CCND3, CER1, CHD8, CHP, CREBBP, CSNK1A1, CSNK1A1L, CSNK1E, CSNK2A1, CSNK2A2, CSNK2B, CTBP1, CTBP2, CTNNB1, CTNNBIP1, CUL1, CXXC4, DAAM1, DAAM2, DKK1, DKK2, DKK4, DVL1, DVL2, DVL3, EP300, FBXW11, FOSL1, FRAT1, FRAT2, FZD1, FZD10, FZD2, FZD3, FZD4, FZD5, FZD6, FZD7, FZD8, FZD9, GSK3B, JUN, LEF1, LOC652788, LRP5, LRP6, MAP3K7, MAPK10, MAPK8, MAPK9, MMP7, MYC, NFAT5, NFATC1, NFATC2, NFATC3, NFATC4, NKD1, NKD2, NLK, PLCB1, PLCB2, PLCB3, PLCB4, PORCN, PPARD, PPP2CA, PPP2CB, PPP2R1A, PPP2R1B, PPP2R2A, PPP2R2B, PPP2R2C, PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2, PRICKLE1, PRICKLE2, PRKACA, PRKACB, PRKACG, PRKCA, PRKCB1, PRKCG, PRKX, PRKY, PSEN1, RAC1, RAC2, RAC3, RBX1, RHOA, ROCK1, ROCK2, RUVBL1, SENP2, SFRP1, SFRP2, SFRP4, SFRP5, SIAH1, SKP1, SMAD2, SMAD3, SMAD4, SOX17, TBL1X, TBL1XR1, TBL1Y, TCF7, TCF7L1, TCF7L2, TP53, VANGL1, VANGL2, WIF1, WNT1, WNT10A, WNT10B, WNT11, WNT16, WNT2, WNT2B, WNT3, WNT3A, WNT4, WNT5A, WNT5B, WNT6, WNT7A, WNT7B, WNT8A, WNT8B, WNT9A, WNT9B	144	APC(187), APC2(1), AXIN1(2), AXIN2(9), BTRC(5), CACYBP(2), CAMK2A(1), CAMK2B(2), CAMK2D(3), CAMK2G(2), CCND2(1), CCND3(1), CER1(3), CHD8(6), CREBBP(25), CSNK1A1(2), CSNK1A1L(5), CSNK2A1(4), CSNK2A2(2), CSNK2B(2), CTBP1(1), CTBP2(2), CTNNB1(12), CTNNBIP1(1), CUL1(8), CXXC4(1), DAAM1(2), DAAM2(9), DKK1(5), DKK2(6), DKK4(7), DVL2(9), DVL3(4), EP300(15), FBXW11(8), FZD1(1), FZD10(6), FZD2(2), FZD3(13), FZD4(2), FZD6(6), FZD7(3), FZD8(1), GSK3B(8), LEF1(4), LRP5(5), LRP6(17), MAP3K7(4), MAPK10(8), MAPK8(7), MAPK9(5), MMP7(5), NFAT5(5), NFATC1(2), NFATC2(5), NFATC3(5), NFATC4(5), NKD1(3), NKD2(1), NLK(1), PLCB1(8), PLCB2(3), PLCB3(4), PLCB4(10), PORCN(2), PPARD(2), PPP2CA(1), PPP2CB(2), PPP2R1A(4), PPP2R1B(2), PPP2R2A(1), PPP2R2B(3), PPP2R2C(4), PPP3CA(3), PPP3CB(5), PPP3CC(4), PPP3R1(1), PPP3R2(1), PRICKLE1(11), PRICKLE2(6), PRKACA(1), PRKACB(1), PRKACG(3), PRKCA(4), PRKCG(10), PRKX(2), PSEN1(3), RBX1(1), RHOA(5), ROCK1(15), ROCK2(6), RUVBL1(8), SENP2(3), SFRP1(3), SFRP2(3), SFRP4(4), SFRP5(1), SIAH1(1), SKP1(1), SMAD2(16), SMAD3(9), SMAD4(29), SOX17(2), TBL1X(6), TBL1XR1(6), TBL1Y(1), TCF7(6), TCF7L1(3), TCF7L2(20), TP53(122), VANGL1(2), VANGL2(5), WIF1(2), WNT1(1), WNT10B(4), WNT11(3), WNT16(2), WNT2(1), WNT2B(3), WNT3(4), WNT3A(1), WNT4(1), WNT5A(3), WNT6(1), WNT7A(2), WNT7B(2), WNT8A(2), WNT9A(2), WNT9B(2)	54356112	894	218	758	155	275	204	133	8	221	53	<1.00e-15	<1.40e-14
2	HSA04810_REGULATION_OF_ACTIN_CYTOSKELETON	Genes involved in regulation of actin cytoskeleton	ABI2, ACTN1, ACTN2, ACTN3, ACTN4, APC, APC2, ARAF, ARHGEF1, ARHGEF12, ARHGEF4, ARHGEF6, ARHGEF7, ARPC1A, ARPC1B, ARPC2, ARPC3, ARPC4, ARPC5, ARPC5L, BAIAP2, BCAR1, BDKRB1, BDKRB2, BRAF, C3orf10, CD14, CDC42, CFL1, CFL2, CHRM1, CHRM2, CHRM3, CHRM4, CHRM5, CRK, CRKL, CSK, CYFIP1, CYFIP2, DIAPH1, DIAPH2, DIAPH3, DOCK1, EGF, EGFR, EZR, F2, F2R, FGD1, FGD3, FGF1, FGF10, FGF11, FGF12, FGF13, FGF14, FGF16, FGF17, FGF18, FGF19, FGF2, FGF20, FGF21, FGF22, FGF23, FGF3, FGF4, FGF5, FGF6, FGF7, FGF8, FGF9, FGFR1, FGFR2, FGFR3, FGFR4, FN1, GIT1, GNA12, GNA13, GNG12, GRLF1, GSN, HRAS, INS, IQGAP1, IQGAP2, IQGAP3, ITGA1, ITGA10, ITGA11, ITGA2, ITGA2B, ITGA3, ITGA4, ITGA5, ITGA6, ITGA7, ITGA8, ITGA9, ITGAD, ITGAE, ITGAL, ITGAM, ITGAV, ITGAX, ITGB1, ITGB2, ITGB3, ITGB4, ITGB5, ITGB6, ITGB7, ITGB8, KRAS, LIMK1, LIMK2, LOC200025, LOC645126, LOC653888, MAP2K1, MAP2K2, MAPK1, MAPK3, MLCK, MOS, MRAS, MRCL3, MRLC2, MSN, MYH10, MYH14, MYH9, MYL2, MYL5, MYL7, MYL8P, MYL9, MYLC2PL, MYLK, MYLK2, MYLPF, NCKAP1, NCKAP1L, NRAS, PAK1, PAK2, PAK3, PAK4, PAK6, PAK7, PDGFA, PDGFB, PDGFRA, PDGFRB, PFN1, PFN2, PFN3, PFN4, PIK3CA, PIK3CB, PIK3CD, PIK3CG, PIK3R1, PIK3R2, PIK3R3, PIK3R5, PIP4K2A, PIP4K2B, PIP4K2C, PIP5K1A, PIP5K1B, PIP5K1C, PIP5K3, PPP1CA, PPP1CB, PPP1CC, PPP1R12A, PPP1R12B, PTK2, PXN, RAC1, RAC2, RAC3, RAF1, RDX, RHOA, ROCK1, ROCK2, RRAS, RRAS2, SCIN, SLC9A1, SOS1, SOS2, SSH1, SSH2, SSH3, TIAM1, TIAM2, TMSB4X, TMSB4Y, TMSL3, VAV1, VAV2, VAV3, VCL, WAS, WASF1, WASF2, WASL	203	ABI2(1), ACTN1(5), ACTN2(8), ACTN3(3), ACTN4(3), APC(187), APC2(1), ARAF(3), ARHGEF1(5), ARHGEF12(9), ARHGEF4(4), ARHGEF6(10), ARHGEF7(8), ARPC1A(5), ARPC1B(2), ARPC2(2), ARPC5(1), ARPC5L(2), BAIAP2(1), BDKRB2(3), BRAF(23), CD14(1), CDC42(1), CFL1(1), CHRM1(3), CHRM2(11), CHRM3(4), CHRM4(1), CHRM5(2), CRKL(2), CSK(3), CYFIP1(6), CYFIP2(5), DIAPH1(1), DIAPH2(12), DIAPH3(5), DOCK1(7), EGF(3), EGFR(11), EZR(2), F2(3), FGD1(8), FGD3(2), FGF1(2), FGF11(3), FGF12(3), FGF13(3), FGF14(5), FGF17(1), FGF19(1), FGF20(2), FGF21(1), FGF23(1), FGF3(1), FGF5(4), FGF6(3), FGF7(1), FGF8(1), FGF9(1), FGFR1(4), FGFR2(6), FGFR3(2), FGFR4(2), FN1(21), GIT1(3), GNA12(2), GNA13(2), GRLF1(12), IQGAP1(13), IQGAP2(12), IQGAP3(11), ITGA1(3), ITGA10(7), ITGA11(4), ITGA2(6), ITGA2B(4), ITGA3(4), ITGA4(8), ITGA5(7), ITGA6(4), ITGA7(6), ITGA8(8), ITGA9(6), ITGAD(8), ITGAE(7), ITGAL(8), ITGAM(8), ITGAV(5), ITGAX(6), ITGB1(6), ITGB2(5), ITGB3(9), ITGB4(3), ITGB5(6), ITGB6(6), ITGB7(4), ITGB8(5), KRAS(96), LIMK1(5), LIMK2(5), MAP2K1(4), MAP2K2(1), MAPK1(2), MAPK3(3), MOS(3), MRAS(1), MSN(6), MYH10(10), MYH14(12), MYH9(12), MYL2(1), MYL7(1), MYL9(2), MYLK(14), MYLK2(3), NCKAP1(9), NCKAP1L(11), NRAS(20), PAK1(5), PAK2(3), PAK3(5), PAK6(1), PAK7(7), PDGFA(1), PDGFRA(17), PDGFRB(6), PFN2(1), PFN4(1), PIK3CA(40), PIK3CB(2), PIK3CD(3), PIK3CG(14), PIK3R1(10), PIK3R2(1), PIK3R3(4), PIK3R5(1), PIP4K2A(2), PIP4K2B(2), PIP4K2C(3), PIP5K1A(3), PIP5K1B(2), PIP5K1C(4), PPP1CB(2), PPP1CC(2), PPP1R12A(3), PPP1R12B(9), PTK2(5), RAF1(6), RDX(3), RHOA(5), ROCK1(15), ROCK2(6), RRAS2(2), SCIN(3), SLC9A1(4), SOS1(7), SOS2(11), SSH1(6), SSH2(4), SSH3(1), TIAM1(17), TIAM2(16), TMSL3(1), VAV1(13), VAV2(4), VAV3(12), VCL(2), WAS(1), WASF1(3), WASF2(2), WASL(7)	94731820	1187	216	982	278	334	392	203	8	194	56	<1.00e-15	<1.40e-14
3	HSA04010_MAPK_SIGNALING_PATHWAY	Genes involved in MAPK signaling pathway	ACVR1B, ACVR1C, AKT1, AKT2, AKT3, ARRB1, ARRB2, ATF2, ATF4, BDNF, BRAF, CACNA1A, CACNA1B, CACNA1C, CACNA1D, CACNA1E, CACNA1F, CACNA1G, CACNA1H, CACNA1I, CACNA1S, CACNA2D1, CACNA2D2, CACNA2D3, CACNA2D4, CACNB1, CACNB2, CACNB3, CACNB4, CACNG1, CACNG2, CACNG3, CACNG4, CACNG5, CACNG6, CACNG7, CACNG8, CASP3, CD14, CDC25B, CDC42, CHP, CHUK, CRK, CRKL, DAXX, DDIT3, DUSP1, DUSP10, DUSP14, DUSP16, DUSP2, DUSP3, DUSP4, DUSP5, DUSP6, DUSP7, DUSP8, DUSP9, ECSIT, EGF, EGFR, ELK1, ELK4, EVI1, FAS, FASLG, FGF1, FGF10, FGF11, FGF12, FGF13, FGF14, FGF16, FGF17, FGF18, FGF19, FGF2, FGF20, FGF21, FGF22, FGF23, FGF3, FGF4, FGF5, FGF6, FGF7, FGF8, FGF9, FGFR1, FGFR2, FGFR3, FGFR4, FLNA, FLNB, FLNC, FOS, GADD45A, GADD45B, GADD45G, GNA12, GNG12, GRB2, HRAS, IKBKB, IKBKG, IL1A, IL1B, IL1R1, IL1R2, JUN, JUND, KRAS, LOC653852, MAP2K1, MAP2K1IP1, MAP2K2, MAP2K3, MAP2K4, MAP2K5, MAP2K6, MAP2K7, MAP3K1, MAP3K10, MAP3K12, MAP3K13, MAP3K14, MAP3K2, MAP3K3, MAP3K4, MAP3K5, MAP3K6, MAP3K7, MAP3K7IP1, MAP3K7IP2, MAP3K8, MAP4K1, MAP4K2, MAP4K3, MAP4K4, MAPK1, MAPK10, MAPK11, MAPK12, MAPK13, MAPK14, MAPK3, MAPK7, MAPK8, MAPK8IP1, MAPK8IP2, MAPK8IP3, MAPK9, MAPKAPK2, MAPKAPK3, MAPKAPK5, MAPT, MAX, MEF2C, MKNK1, MKNK2, MOS, MRAS, MYC, NF1, NFATC2, NFATC4, NFKB1, NFKB2, NGFB, NLK, NR4A1, NRAS, NTF3, NTF5, NTRK1, NTRK2, PAK1, PAK2, PDGFA, PDGFB, PDGFRA, PDGFRB, PLA2G10, PLA2G12A, PLA2G12B, PLA2G1B, PLA2G2A, PLA2G2D, PLA2G2E, PLA2G2F, PLA2G3, PLA2G4A, PLA2G5, PLA2G6, PPM1A, PPM1B, PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2, PPP5C, PRKACA, PRKACB, PRKACG, PRKCA, PRKCB1, PRKCG, PRKX, PRKY, PTPN5, PTPN7, PTPRR, RAC1, RAC2, RAC3, RAF1, RAP1A, RAP1B, RAPGEF2, RASA1, RASA2, RASGRF1, RASGRF2, RASGRP1, RASGRP2, RASGRP3, RASGRP4, RPS6KA1, RPS6KA2, RPS6KA3, RPS6KA4, RPS6KA5, RPS6KA6, RRAS, RRAS2, SOS1, SOS2, SRF, STK3, STK4, STMN1, TAOK1, TAOK2, TAOK3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, TNF, TNFRSF1A, TP53, TRAF2, TRAF6, ZAK	247	ACVR1B(15), ACVR1C(3), AKT1(2), AKT2(6), AKT3(1), ARRB1(1), ATF2(1), ATF4(1), BDNF(1), BRAF(23), CACNA1A(17), CACNA1B(11), CACNA1C(12), CACNA1D(8), CACNA1E(21), CACNA1F(14), CACNA1G(10), CACNA1H(2), CACNA1I(5), CACNA1S(14), CACNA2D1(11), CACNA2D2(1), CACNA2D3(6), CACNA2D4(3), CACNB1(1), CACNB2(6), CACNB3(2), CACNB4(2), CACNG1(2), CACNG2(3), CACNG3(8), CACNG4(2), CACNG5(5), CACNG6(1), CACNG7(6), CACNG8(1), CASP3(2), CD14(1), CDC25B(5), CDC42(1), CHUK(6), CRKL(2), DAXX(1), DUSP1(2), DUSP10(5), DUSP16(5), DUSP3(1), DUSP4(1), DUSP5(2), DUSP6(5), DUSP7(2), DUSP9(1), ECSIT(3), EGF(3), EGFR(11), ELK4(2), FAS(2), FASLG(1), FGF1(2), FGF11(3), FGF12(3), FGF13(3), FGF14(5), FGF17(1), FGF19(1), FGF20(2), FGF21(1), FGF23(1), FGF3(1), FGF5(4), FGF6(3), FGF7(1), FGF8(1), FGF9(1), FGFR1(4), FGFR2(6), FGFR3(2), FGFR4(2), FLNA(3), FLNB(16), FLNC(13), FOS(1), GNA12(2), GRB2(3), IKBKB(4), IL1A(1), IL1B(1), IL1R1(4), IL1R2(7), KRAS(96), MAP2K1(4), MAP2K2(1), MAP2K3(6), MAP2K4(11), MAP2K5(4), MAP2K6(3), MAP3K1(8), MAP3K10(3), MAP3K12(6), MAP3K13(9), MAP3K14(3), MAP3K2(3), MAP3K3(3), MAP3K4(18), MAP3K5(6), MAP3K6(6), MAP3K7(4), MAP3K8(2), MAP4K1(3), MAP4K2(1), MAP4K3(4), MAP4K4(8), MAPK1(2), MAPK10(8), MAPK12(2), MAPK13(1), MAPK14(3), MAPK3(3), MAPK7(3), MAPK8(7), MAPK8IP1(2), MAPK8IP3(2), MAPK9(5), MAPKAPK2(3), MAPKAPK3(1), MAPKAPK5(1), MAPT(5), MAX(1), MEF2C(9), MKNK1(1), MKNK2(3), MOS(3), MRAS(1), NF1(9), NFATC2(5), NFATC4(5), NFKB1(6), NFKB2(4), NLK(1), NR4A1(2), NRAS(20), NTF3(1), NTRK1(6), NTRK2(4), PAK1(5), PAK2(3), PDGFA(1), PDGFRA(17), PDGFRB(6), PLA2G1B(1), PLA2G2F(1), PLA2G4A(8), PLA2G6(4), PPM1A(7), PPM1B(2), PPP3CA(3), PPP3CB(5), PPP3CC(4), PPP3R1(1), PPP3R2(1), PPP5C(3), PRKACA(1), PRKACB(1), PRKACG(3), PRKCA(4), PRKCG(10), PRKX(2), PTPN5(1), PTPN7(2), PTPRR(5), RAF1(6), RAP1A(2), RAP1B(2), RAPGEF2(13), RASA1(9), RASA2(3), RASGRF1(12), RASGRF2(9), RASGRP1(5), RASGRP2(7), RASGRP3(7), RASGRP4(2), RPS6KA1(1), RPS6KA2(10), RPS6KA3(5), RPS6KA5(6), RPS6KA6(7), RRAS2(2), SOS1(7), SOS2(11), SRF(3), STK3(3), STK4(3), STMN1(2), TAOK1(5), TAOK2(3), TAOK3(4), TGFB1(1), TGFB2(9), TGFBR1(9), TGFBR2(7), TNFRSF1A(1), TP53(122), TRAF2(1), TRAF6(4), ZAK(6)	98648272	1145	213	961	310	405	372	215	10	137	6	<1.00e-15	<1.40e-14
4	ST_ADRENERGIC	Adrenergic receptors respond to epinephrine and norepinephrine signaling.	AKT1, APC, AR, ASAH1, BF, BRAF, CAMP, CCL13, CCL15, CCL16, DAG1, EGFR, GAS, GNA11, GNA15, GNAI1, GNAQ, ITPKA, ITPKB, ITPR1, ITPR2, ITPR3, KCNJ3, KCNJ5, KCNJ9, MAPK1, MAPK10, MAPK14, PHKA2, PIK3CA, PIK3CD, PIK3R1, PITX2, PTX1, PTX3, RAF1, SRC	34	AKT1(2), APC(187), AR(6), ASAH1(3), BRAF(23), CCL13(1), CCL15(1), DAG1(5), EGFR(11), GNA11(1), GNA15(3), GNAI1(4), GNAQ(4), ITPKB(4), ITPR1(19), ITPR2(18), ITPR3(12), KCNJ3(6), KCNJ5(4), KCNJ9(3), MAPK1(2), MAPK10(8), MAPK14(3), PHKA2(6), PIK3CA(40), PIK3CD(3), PIK3R1(10), PITX2(2), PTX3(2), RAF1(6), SRC(3)	18222276	402	191	303	61	77	74	76	0	120	55	<1.00e-15	<1.40e-14
5	WNT_SIGNALING	Wnt signaling genes	APC, ARHA, AXIN1, C2orf31, CCND1, CCND2, CCND3, CSNK1E, CSNK1E, LOC400927, CTNNB1, DIPA, DVL1, DVL2, DVL3, FBXW2, FOSL1, FRAT1, FZD1, FZD10, FZD2, FZD3, FZD5, FZD6, FZD7, FZD8, FZD9, GSK3B, JUN, LDLR, MAPK10, MAPK9, MYC, PAFAH1B1, PLAU, PPP2R5C, PPP2R5E, PRKCA, PRKCB1, PRKCD, PRKCE, PRKCG, PRKCH, PRKCI, PRKCM, PRKCQ, PRKCZ, PRKD1, RAC1, RHOA, SFRP4, TCF7, WNT1, WNT10A, WNT10B, WNT11, WNT16, WNT2, WNT2B, WNT3, WNT4, WNT5A, WNT5B, WNT6, WNT7A, WNT7B	58	APC(187), AXIN1(2), CCND2(1), CCND3(1), CTNNB1(12), DVL2(9), DVL3(4), FBXW2(3), FZD1(1), FZD10(6), FZD2(2), FZD3(13), FZD6(6), FZD7(3), FZD8(1), GSK3B(8), LDLR(5), MAPK10(8), MAPK9(5), PAFAH1B1(3), PLAU(3), PPP2R5C(3), PPP2R5E(2), PRKCA(4), PRKCD(3), PRKCE(6), PRKCG(10), PRKCH(3), PRKCI(4), PRKCQ(5), PRKD1(15), RHOA(5), SFRP4(4), TCF7(6), WNT1(1), WNT10B(4), WNT11(3), WNT16(2), WNT2(1), WNT2B(3), WNT3(4), WNT4(1), WNT5A(3), WNT6(1), WNT7A(2), WNT7B(2)	19830148	380	187	317	61	83	73	42	2	128	52	<1.00e-15	<1.40e-14
6	ALKPATHWAY	Activin receptor-like kinase 3 (ALK3) is required during gestation for cardiac muscle development.	ACVR1, APC, ATF2, AXIN1, BMP10, BMP2, BMP4, BMP5, BMP7, BMPR1A, BMPR2, CHRD, CTNNB1, DVL1, FZD1, GATA4, GSK3B, MADH1, MADH4, MADH5, MADH6, MAP3K7, MEF2C, MYL2, NKX2-5, NOG, NPPA, NPPB, RFC1, TCF1, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, TGFBR3, WNT1	32	ACVR1(4), APC(187), ATF2(1), AXIN1(2), BMP10(3), BMP2(1), BMP4(2), BMP5(5), BMP7(6), BMPR1A(4), BMPR2(10), CHRD(5), CTNNB1(12), FZD1(1), GATA4(1), GSK3B(8), MAP3K7(4), MEF2C(9), MYL2(1), NKX2-5(1), NPPA(1), NPPB(1), RFC1(14), TGFB1(1), TGFB2(9), TGFBR1(9), TGFBR2(7), TGFBR3(8), WNT1(1)	12081204	318	185	257	34	50	54	35	1	126	52	<1.00e-15	<1.40e-14
7	GSK3PATHWAY	Bacterial lipopolysaccharide activates AKT to promote the survival and activation of macrophages and inhibits Gsk3-beta to promote beta-catenin accumulation in the nucleus.	AKT1, APC, AXIN1, CCND1, CD14, CTNNB1, DVL1, FZD1, GJA1, GNAI1, GSK3B, IRAK1, LBP, LEF1, LY96, MYD88, NFKB1, PDPK1, PIK3CA, PIK3R1, PPP2CA, PRKR, RELA, TIRAP, TLR4, TOLLIP, WNT1	26	AKT1(2), APC(187), AXIN1(2), CD14(1), CTNNB1(12), FZD1(1), GJA1(7), GNAI1(4), GSK3B(8), IRAK1(1), LBP(1), LEF1(4), LY96(2), MYD88(2), NFKB1(6), PDPK1(1), PIK3CA(40), PIK3R1(10), PPP2CA(1), RELA(2), TIRAP(1), TLR4(10), TOLLIP(1), WNT1(1)	10111476	307	183	228	28	44	50	43	1	115	54	<1.00e-15	<1.40e-14
8	HSA04110_CELL_CYCLE	Genes involved in cell cycle	ABL1, ANAPC1, ANAPC10, ANAPC11, ANAPC2, ANAPC4, ANAPC5, ANAPC7, ATM, ATR, BUB1, BUB1B, BUB3, CCNA1, CCNA2, CCNB1, CCNB2, CCNB3, CCND1, CCND2, CCND3, CCNE1, CCNE2, CCNH, CDC14A, CDC14B, CDC16, CDC2, CDC20, CDC23, CDC25A, CDC25B, CDC25C, CDC26, CDC27, CDC45L, CDC6, CDC7, CDK2, CDK4, CDK6, CDK7, CDKN1A, CDKN1B, CDKN1C, CDKN2A, CDKN2B, CDKN2C, CDKN2D, CHEK1, CHEK2, CREBBP, CUL1, DBF4, E2F1, E2F2, E2F3, EP300, ESPL1, FZR1, GADD45A, GADD45B, GADD45G, GSK3B, hCG_1982709, HDAC1, HDAC2, LOC440917, LOC728919, MAD1L1, MAD2L1, MAD2L2, MCM2, MCM3, MCM4, MCM5, MCM6, MCM7, MDM2, ORC1L, ORC2L, ORC3L, ORC4L, ORC5L, ORC6L, PCNA, PKMYT1, PLK1, PRKDC, PTTG1, PTTG2, RB1, RBL1, RBL2, RBX1, SFN, SKP1, SKP2, SMAD2, SMAD3, SMAD4, SMC1A, SMC1B, TFDP1, TGFB1, TGFB2, TGFB3, TP53, WEE1, YWHAB, YWHAE, YWHAG, YWHAH, YWHAQ, YWHAZ	109	ABL1(4), ANAPC1(4), ANAPC10(2), ANAPC2(1), ANAPC4(4), ANAPC5(3), ANAPC7(4), ATM(37), ATR(17), BUB1(6), BUB1B(6), BUB3(2), CCNA1(6), CCNA2(3), CCNB1(2), CCNB2(2), CCNB3(7), CCND2(1), CCND3(1), CCNE1(3), CCNE2(2), CCNH(2), CDC14A(4), CDC14B(4), CDC16(4), CDC20(3), CDC23(6), CDC25A(2), CDC25B(5), CDC25C(4), CDC27(13), CDC6(1), CDC7(3), CDK2(2), CDK4(3), CDK6(1), CDK7(1), CDKN1A(1), CDKN1B(3), CDKN2A(1), CDKN2C(1), CHEK1(1), CHEK2(1), CREBBP(25), CUL1(8), DBF4(5), E2F2(1), E2F3(2), EP300(15), ESPL1(8), GSK3B(8), HDAC1(2), HDAC2(2), MAD1L1(2), MAD2L1(1), MAD2L2(1), MCM3(3), MCM4(4), MCM5(6), MCM6(4), MCM7(3), MDM2(4), ORC1L(1), ORC3L(1), ORC4L(1), ORC5L(1), PCNA(3), PKMYT1(1), PLK1(8), PRKDC(18), PTTG1(1), RB1(7), RBL1(5), RBL2(8), RBX1(1), SKP1(1), SKP2(1), SMAD2(16), SMAD3(9), SMAD4(29), SMC1A(10), SMC1B(6), TFDP1(4), TGFB1(1), TGFB2(9), TP53(122), WEE1(3), YWHAB(2), YWHAE(3), YWHAH(1), YWHAQ(1)	46359792	561	182	490	105	172	159	112	9	105	4	<1.00e-15	<1.40e-14
9	HSA04210_APOPTOSIS	Genes involved in apoptosis	AIFM1, AKT1, AKT2, AKT3, APAF1, ATM, BAD, BAX, BCL2, BCL2L1, BID, BIRC2, BIRC3, BIRC4, CAPN1, CAPN2, CASP10, CASP3, CASP6, CASP7, CASP8, CASP9, CFLAR, CHP, CHUK, CSF2RB, CYCS, DFFA, DFFB, ENDOG, FADD, FAS, FASLG, IKBKB, IKBKG, IL1A, IL1B, IL1R1, IL1RAP, IL3, IL3RA, IRAK1, IRAK2, IRAK3, IRAK4, MAP3K14, MYD88, NFKB1, NFKB2, NFKBIA, NGFB, NTRK1, PIK3CA, PIK3CB, PIK3CD, PIK3CG, PIK3R1, PIK3R2, PIK3R3, PIK3R5, PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2, PRKACA, PRKACB, PRKACG, PRKAR1A, PRKAR1B, PRKAR2A, PRKAR2B, RELA, RIPK1, TNF, TNFRSF10A, TNFRSF10B, TNFRSF10C, TNFRSF10D, TNFRSF1A, TNFSF10, TP53, TRADD, TRAF2	80	AIFM1(2), AKT1(2), AKT2(6), AKT3(1), APAF1(8), ATM(37), BAD(1), BAX(1), BCL2(1), BCL2L1(1), BID(1), BIRC2(4), BIRC3(7), CAPN1(2), CAPN2(6), CASP10(2), CASP3(2), CASP6(2), CASP7(1), CASP8(11), CASP9(2), CFLAR(3), CHUK(6), CSF2RB(7), DFFA(3), DFFB(2), FAS(2), FASLG(1), IKBKB(4), IL1A(1), IL1B(1), IL1R1(4), IL1RAP(1), IL3(3), IRAK1(1), IRAK2(8), IRAK3(3), IRAK4(4), MAP3K14(3), MYD88(2), NFKB1(6), NFKB2(4), NTRK1(6), PIK3CA(40), PIK3CB(2), PIK3CD(3), PIK3CG(14), PIK3R1(10), PIK3R2(1), PIK3R3(4), PIK3R5(1), PPP3CA(3), PPP3CB(5), PPP3CC(4), PPP3R1(1), PPP3R2(1), PRKACA(1), PRKACB(1), PRKACG(3), PRKAR1A(5), PRKAR1B(1), PRKAR2B(3), RELA(2), RIPK1(2), TNFRSF10A(3), TNFRSF10B(6), TNFRSF10C(6), TNFRSF10D(1), TNFRSF1A(1), TNFSF10(1), TP53(122), TRADD(1), TRAF2(1)	28091296	424	181	343	69	136	131	73	2	78	4	<1.00e-15	<1.40e-14
10	PITX2PATHWAY	The bicoid-related transcription factor Pitx2 is activated by Wnt binding to the Frizzled receptor and induces tissue-specific cell proliferation.	APC, AXIN1, CREBBP, CTNNB1, DVL1, EP300, FZD1, GSK3B, HDAC1, HTATIP, LDB1, LEF1, PITX2, PPARBP, TRRAP, WNT1	14	APC(187), AXIN1(2), CREBBP(25), CTNNB1(12), EP300(15), FZD1(1), GSK3B(8), HDAC1(2), LDB1(5), LEF1(4), PITX2(2), TRRAP(21), WNT1(1)	10969528	285	180	225	29	46	36	32	2	117	52	<1.00e-15	<1.40e-14

Table 6. Get Full Table A Ranked List of Significantly Mutated Genesets (Excluding Significantly Mutated Genes). Number of significant genesets found: 0. Number of genesets displayed: 10

rank	geneset	description	genes	N_genes	mut_tally	N	n	npat	nsite	nsil	n1	n2	n3	n4	n5	n6	p	q
1	CTLA4PATHWAY	T cell activation requires interaction with an antigen-MHC-I complex on an antigen-presenting cell (APC), as well as CD28 interaction with the APC's CD80 or 86.	CD28, CD3D, CD3E, CD3G, CD3Z, CD80, CD86, CTLA4, GRB2, HLA-DRA, HLA-DRB1, ICOS, ICOSL, IL2, ITK, LCK, PIK3CA, PIK3R1, PTPN11, TRA@, TRB@	16	CD28(2), CD3D(1), CD3G(2), CD80(1), CTLA4(2), GRB2(3), HLA-DRA(5), HLA-DRB1(2), ICOS(1), IL2(4), ITK(11), LCK(3), PIK3R1(10), PTPN11(5)	3496216	52	30	50	10	15	19	7	0	7	4	0.0004	0.25
2	CREMPATHWAY	The transcription factor CREM activates a post-meiotic transcriptional cascade culminating in spermatogenesis.	ADCY1, CREM, FHL5, FSHB, FSHR, GNAS, XPO1	7	ADCY1(8), CREM(4), FHL5(4), FSHB(2), FSHR(7), GNAS(6), XPO1(2)	3165356	33	29	33	12	13	9	7	1	3	0	0.00095	0.29
3	ALTERNATIVEPATHWAY	The alternative complement pathway is an antibody-independent mechanism of immune activation that results in cell lysis via the membrane attack complex.	BF, C3, C5, C6, C7, C8A, C9, DF, PFC	6	C3(11), C5(13), C6(13), C7(5), C8A(6), C9(5)	4331412	53	30	53	14	16	19	10	0	7	1	0.0046	0.52
4	PLCPATHWAY	Phospholipase C hydrolyzes the membrane lipid PIP2 to DAG, which activates protein kinase C, and IP3, which causes calcium influx.	AKT1, PIK3CA, PIK3R1, PLCB1, PLCG1, PRKCA, PRKCB1, VAV1	6	AKT1(2), PIK3R1(10), PLCB1(8), PLCG1(4), PRKCA(4), VAV1(13)	3613868	41	31	40	12	16	9	7	1	6	2	0.006	0.52
5	EOSINOPHILSPATHWAY	Recruitment of eosinophils in the inflammatory response observed in asthma occurs via the chemoattractant eotaxin binding to the CCR3 receptor.	CCL11, CCL5, CCR3, CSF2, HLA-DRA, HLA-DRB1, IL3, IL5	8	CCR3(4), HLA-DRA(5), HLA-DRB1(2), IL3(3)	943012	14	12	13	4	7	5	0	0	0	2	0.006	0.52
6	HSA04012_ERBB_SIGNALING_PATHWAY	Genes involved in ErbB signaling pathway	ABL1, ABL2, AKT1, AKT2, AKT3, ARAF, AREG, BAD, BRAF, BTC, CAMK2A, CAMK2B, CAMK2D, CAMK2G, CBL, CBLB, CBLC, CDKN1A, CDKN1B, CRK, CRKL, EGF, EGFR, EIF4EBP1, ELK1, ERBB2, ERBB3, ERBB4, EREG, FRAP1, GAB1, GRB2, GSK3B, HBEGF, HRAS, JUN, KRAS, MAP2K1, MAP2K2, MAP2K4, MAP2K7, MAPK1, MAPK10, MAPK3, MAPK8, MAPK9, MYC, NCK1, NCK2, NRAS, NRG1, NRG2, NRG3, NRG4, PAK1, PAK2, PAK3, PAK4, PAK6, PAK7, PIK3CA, PIK3CB, PIK3CD, PIK3CG, PIK3R1, PIK3R2, PIK3R3, PIK3R5, PLCG1, PLCG2, PRKCA, PRKCB1, PRKCG, PTK2, RAF1, RPS6KB1, RPS6KB2, SHC1, SHC2, SHC3, SHC4, SOS1, SOS2, SRC, STAT5A, STAT5B, TGFA	78	ABL1(4), ABL2(7), AKT1(2), AKT2(6), AKT3(1), ARAF(3), BAD(1), BTC(2), CAMK2A(1), CAMK2B(2), CAMK2D(3), CAMK2G(2), CBL(5), CBLB(8), CDKN1A(1), CDKN1B(3), CRKL(2), EGF(3), EGFR(11), ERBB2(10), EREG(1), GAB1(6), GRB2(3), GSK3B(8), HBEGF(1), MAP2K1(4), MAP2K2(1), MAPK1(2), MAPK10(8), MAPK3(3), MAPK8(7), MAPK9(5), NCK1(1), NRG1(15), NRG2(6), NRG3(7), NRG4(1), PAK1(5), PAK2(3), PAK3(5), PAK6(1), PAK7(7), PIK3CB(2), PIK3CD(3), PIK3CG(14), PIK3R1(10), PIK3R2(1), PIK3R3(4), PIK3R5(1), PLCG1(4), PLCG2(13), PRKCA(4), PRKCG(10), PTK2(5), RAF1(6), RPS6KB1(3), RPS6KB2(2), SHC1(3), SHC2(1), SHC3(1), SHC4(5), SOS1(7), SOS2(11), SRC(3), STAT5B(3)	31193464	293	101	284	87	100	82	60	3	46	2	0.0072	0.52
7	GABAPATHWAY	Gamma-aminobutyric acid (GABA) is an inhibitory neurotransmitter whose receptor is regulated by Plic-1, gephyrin, and GABARAP, which promote receptor clustering.	DNM1, GABARAP, GABRA1, GABRA2, GABRA3, GABRA4, GABRA5, GABRA6, GPHN, NSF, SRC, UBQLN1	11	DNM1(11), GABRA1(4), GABRA2(9), GABRA3(5), GABRA4(8), GABRA6(5), GPHN(12), NSF(1), SRC(3), UBQLN1(2)	3769808	60	32	57	20	16	26	11	0	7	0	0.0092	0.52
8	1_AND_2_METHYLNAPHTHALENE_DEGRADATION		ADH1A, ADH1A, ADH1B, ADH1C, ADH1B, ADH1C, ADH4, ADH6, ADH7, ADHFE1	7	ADH1A(1), ADH1B(3), ADH1C(4), ADH4(2), ADH6(6), ADH7(2), ADHFE1(6)	1888992	24	19	24	9	3	9	11	0	1	0	0.01	0.52
9	REELINPATHWAY	Reelin is secreted by neurons and recognized by receptors including cadherin related neuronal receptors, which promote phosphorylation of Dab1.	CDK5, CDK5R1, DAB1, FYN, LRP8, RELN, VLDLR	7	CDK5R1(1), DAB1(7), FYN(5), LRP8(4), RELN(33), VLDLR(5)	4690340	55	33	53	19	14	21	12	1	7	0	0.011	0.52
10	GPCRDB_CLASS_C_METABOTROPIC_GLUTAMATE_PHEROMONE		CASR, GABBR1, GPCR5A, GPR51, GPRC5A, GPRC5B, GPRC5C, GPRC5D, GRM1, GRM2, GRM3, GRM4, GRM5, GRM7, GRM8	13	CASR(7), GABBR1(6), GPRC5A(2), GPRC5B(2), GPRC5C(2), GPRC5D(1), GRM1(12), GRM2(4), GRM3(7), GRM4(7), GRM5(11), GRM7(12), GRM8(9)	6796908	82	48	80	47	35	23	14	1	9	0	0.011	0.52

Methods & Data

Methods

In brief, we tabulate the number of mutations and the number of covered bases for each gene. The counts are broken down by mutation context category: four context categories that are discovered by MutSig, and one for indel and 'null' mutations, which include indels, nonsense mutations, splice-site mutations, and non-stop (read-through) mutations. For each gene, we calculate the probability of seeing the observed constellation of mutations, i.e. the product P1 x P2 x ... x Pm, or a more extreme one, given the background mutation rates calculated across the dataset. [1]

Download Results

This is an experimental feature. The full results of the analysis summarized in this report can be downloaded from the TCGA Data Coordination Center.

References

[1] TCGA, Integrated genomic analyses of ovarian carcinoma, Nature 474:609 - 615 (2011)

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