Colon Adenocarcinoma: Mutation Analysis (MutSig v2.0)

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: COAD
Number of patients in set: 155

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:COAD.final_analysis_set.maf
Significantly mutated genes (q ≤ 0.1): 106
Mutations seen in COSMIC: 517
Significantly mutated genes in COSMIC territory: 23
Genes with clustered mutations (≤ 3 aa apart): 350
Significantly mutated genesets: 162
Significantly mutated genesets: (excluding sig. mutated genes):0

Mutation Preprocessing

Read 102 MAFs of type "Broad"
Read 53 MAFs of type "Baylor"
Total number of mutations in input MAFs: 62560
After removing 1112 invalidated mutations: 61448
After removing 976 noncoding mutations: 60472
After collapsing adjacent/redundant mutations: 60470

Mutation Filtering

Number of mutations before filtering: 60470
After removing 608 mutations outside gene set: 59862
After removing 171 mutations outside category set: 59691
After removing 29 "impossible" mutations in
gene-patient-category bins of zero coverage: 59662

Results

Breakdown of Mutations by Type

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

type	count
De_novo_Start_InFrame	17
De_novo_Start_OutOfFrame	126
Frame_Shift_Del	1140
Frame_Shift_Ins	653
In_Frame_Del	139
In_Frame_Ins	20
Missense_Mutation	39632
Nonsense_Mutation	3280
Nonstop_Mutation	30
Silent	14503
Splice_Site	149
Translation_Start_Site	2
Total	59691

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	15469	257126057	6e-05	60	6.2
*Np(A/C/T)->transit	10144	3670800380	2.8e-06	2.8	0.28
*ApG->G	966	712178712	1.4e-06	1.4	0.14
transver	13037	4640105149	2.8e-06	2.8	0.29
indel+null	5407	4640105304	1.2e-06	1.2	0.12
double_null	147	4640105304	3.2e-08	0.032	0.0033
Total	45170	4640105304	9.7e-06	9.7	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: COAD.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: *Np(A/C/T)->transit
n3 = number of nonsilent mutations of type: *ApG->G
n4 = number of nonsilent mutations of type: transver
n5 = number of nonsilent mutations of type: indel+null
n6 = number of nonsilent mutations of type: double_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: 106. 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	1331760	121	103	85	4	5	6	1	11	64	34	<1.00e-15	2e-07	0.58	0.000016	<0.000	<0.000
2	FBXW7	F-box and WD repeat domain containing 7	400520	33	29	21	2	17	1	0	8	7	0	5.22e-15	0.00023	0.068	0.00043	1.11e-16	6.68e-13
3	NRAS	neuroblastoma RAS viral (v-ras) oncogene homolog	90830	15	15	7	0	2	2	0	11	0	0	9.77e-15	0.0012	0.014	0.00025	1.11e-16	6.68e-13
4	TP53	tumor protein p53	200247	77	75	50	1	29	11	0	11	26	0	2.44e-15	2e-07	2e-07	0	<1.00e-15	<1.80e-12
5	KRAS	v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	109585	58	58	8	0	0	31	0	27	0	0	2.00e-15	2e-07	2e-07	0	<1.00e-15	<1.80e-12
6	PIK3CA	phosphoinositide-3-kinase, catalytic, alpha polypeptide	509485	33	26	18	1	5	19	1	8	0	0	9.66e-15	0.00092	4e-07	0	<1.00e-15	<1.80e-12
7	BRAF	v-raf murine sarcoma viral oncogene homolog B1	345805	21	20	3	0	0	0	0	21	0	0	5.79e-13	2e-07	8.4e-06	0	<1.00e-15	<1.80e-12
8	PCBP1	poly(rC) binding protein 1	159629	4	4	2	0	0	0	2	2	0	0	0.00188	1.6e-06	0.029	0	<1.00e-15	<1.80e-12
9	BTNL8	butyrophilin-like 8	125577	3	3	1	1	0	0	0	3	0	0	0.0101	2e-07	0.049	0	<1.00e-15	<1.80e-12
10	GGT1	gamma-glutamyltransferase 1	249792	3	3	1	1	0	3	0	0	0	0	0.319	1e-06	2.2e-06	0	<1.00e-15	<1.80e-12
11	SMAD4	SMAD family member 4	263965	21	18	17	0	8	7	0	2	3	1	1.10e-14	0.078	0.0024	0.0037	1.55e-15	2.55e-12
12	FAM123B	family with sequence similarity 123B	514207	19	19	17	1	1	2	0	2	14	0	2.08e-12	0.014	0.6	0.041	2.64e-12	3.96e-09
13	ACVR1B	activin A receptor, type IB	236140	13	13	13	0	4	6	0	2	1	0	1.94e-08	0.089	0.00044	0.0017	8.22e-10	1.14e-06
14	WBSCR17	Williams-Beuren syndrome chromosome region 17	279631	17	17	16	2	10	2	1	1	3	0	4.76e-10	0.043	0.49	0.089	1.05e-09	1.35e-06
15	TNFRSF10C	tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain	122980	6	6	2	0	0	0	0	6	0	0	6.63e-06	2.4e-06	1	0.000012	1.96e-09	2.36e-06
16	MAP2K4	mitogen-activated protein kinase kinase 4	174375	9	9	8	0	2	3	1	2	1	0	1.57e-06	0.031	0.00012	0.00029	1.01e-08	1.14e-05
17	SMAD2	SMAD family member 2	223820	11	10	8	1	3	0	0	4	4	0	1.03e-07	0.028	0.059	0.017	3.63e-08	3.85e-05
18	SDK1	sidekick homolog 1, cell adhesion molecule (chicken)	994132	27	25	25	7	18	2	0	6	1	0	1.56e-06	0.0014	0.16	0.0025	7.87e-08	7.89e-05
19	LRP1B	low density lipoprotein-related protein 1B (deleted in tumors)	2195420	55	30	55	14	8	11	3	26	4	3	1.58e-08	0.44	0.53	0.55	1.70e-07	0.000161
20	GRIA1	glutamate receptor, ionotropic, AMPA 1	431675	18	14	17	5	7	5	2	3	1	0	9.62e-07	0.017	0.98	0.037	6.42e-07	0.000579
21	FAT4	FAT tumor suppressor homolog 4 (Drosophila)	2316411	56	29	56	16	14	19	0	20	3	0	5.05e-05	0.0003	0.42	0.00086	7.75e-07	0.000666
22	DMD	dystrophin (muscular dystrophy, Duchenne and Becker types)	1804783	36	27	35	4	6	5	2	16	7	0	8.41e-07	0.029	0.64	0.056	8.39e-07	0.000678
23	ACOT4	acyl-CoA thioesterase 4	166432	3	3	2	1	0	0	0	0	2	1	0.0162	4e-07	0.019	3e-06	8.65e-07	0.000678
24	CNTN6	contactin 6	492125	19	15	19	2	5	3	0	10	1	0	1.76e-07	0.63	0.67	0.77	2.29e-06	0.00172
25	KLK2	kallikrein-related peptidase 2	130665	3	3	1	0	0	0	0	3	0	0	0.0480	2.8e-06	0.18	3.2e-06	2.57e-06	0.00185
26	SOX9	SRY (sex determining region Y)-box 9 (campomelic dysplasia, autosomal sex-reversal)	187883	9	9	9	0	0	1	0	0	8	0	1.40e-06	0.12	0.54	0.18	4.09e-06	0.00284
27	PCDH9	protocadherin 9	578150	19	16	19	6	1	4	0	13	1	0	3.77e-07	0.71	0.68	0.84	5.09e-06	0.00340
28	OR6N1	olfactory receptor, family 6, subfamily N, member 1	146165	8	8	8	2	1	2	1	4	0	0	2.00e-06	0.17	0.29	0.18	5.77e-06	0.00365
29	OR2M4	olfactory receptor, family 2, subfamily M, member 4	145700	8	8	8	0	3	2	1	0	2	0	3.21e-06	0.49	0.03	0.12	5.87e-06	0.00365
30	NRXN1	neurexin 1	722337	21	17	21	8	8	1	0	10	2	0	3.02e-05	0.016	0.13	0.015	7.26e-06	0.00436
31	AFF2	AF4/FMR2 family, member 2	623100	17	15	16	9	2	7	0	8	0	0	2.12e-06	0.23	0.34	0.28	9.08e-06	0.00518
32	TXNDC3	thioredoxin domain containing 3 (spermatozoa)	283185	13	10	13	2	3	1	1	3	5	0	6.00e-07	0.53	0.79	1	9.19e-06	0.00518
33	TCF7L2	transcription factor 7-like 2 (T-cell specific, HMG-box)	313613	13	11	13	3	3	2	0	3	5	0	2.04e-05	0.02	0.3	0.036	1.10e-05	0.00599
34	SFPQ	splicing factor proline/glutamine-rich (polypyrimidine tract binding protein associated)	229920	7	6	6	0	4	2	0	0	1	0	0.0464	0.0017	0.00023	0.000018	1.28e-05	0.00664
35	MGC26647	chromosome 7 open reading frame 62	118730	7	7	7	0	1	1	0	2	3	0	4.88e-06	0.11	0.79	0.18	1.29e-05	0.00664

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: 23. 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	58	51	58	7905	650714	0	0
2	NRAS	neuroblastoma RAS viral (v-ras) oncogene homolog	15	28	13	4340	12243	0	0
3	FBXW7	F-box and WD repeat domain containing 7	33	91	25	14105	899	0	0
4	BRAF	v-raf murine sarcoma viral oncogene homolog B1	21	88	19	13640	199652	0	0
5	PIK3CA	phosphoinositide-3-kinase, catalytic, alpha polypeptide	33	184	30	28520	11874	0	0
6	APC	adenomatous polyposis coli	121	838	87	129890	1514	0	0
7	TP53	tumor protein p53	77	823	77	127565	27419	0	0
8	SMAD4	SMAD family member 4	21	159	13	24645	51	0	0
9	ERBB3	v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian)	11	6	5	930	5	4.9e-13	2.4e-10
10	CDC27	cell division cycle 27 homolog (S. cerevisiae)	9	3	4	465	4	1.7e-11	7.8e-09

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

Table 5. Get Full Table Genes with Clustered Mutations

num	gene	desc	n	nmuts0	nmuts3	nmuts12	npairs0	npairs3	npairs12
6127	KRAS	v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	58	959	1135	1136	959	1135	1136
1163	BRAF	v-raf murine sarcoma viral oncogene homolog B1	21	171	171	171	171	171	171
12018	TP53	tumor protein p53	77	102	181	290	102	181	290
603	APC	adenomatous polyposis coli	121	82	105	149	82	105	149
8724	PIK3CA	phosphoinositide-3-kinase, catalytic, alpha polypeptide	33	53	81	103	53	81	103
4171	FBXW7	F-box and WD repeat domain containing 7	33	41	45	53	41	45	53
7746	NRAS	neuroblastoma RAS viral (v-ras) oncogene homolog	15	26	36	36	26	36	36
10827	SMAD4	SMAD family member 4	21	10	14	24	10	14	24
4014	FAM22F	family with sequence similarity 22, member F	8	10	10	10	10	10	10
3777	ERBB3	v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian)	11	6	10	10	6	10	10

Note:

n - number of mutations in this gene in the individual set.

mindist - distance (in aa) between closest pair of mutations in this gene

npairs3 - how many pairs of mutations are within 3 aa of each other.

npairs12 - how many pairs of mutations are within 12 aa of each other.

Geneset Analyses

Table 6. Get Full Table A Ranked List of Significantly Mutated Genesets. (Source: MSigDB GSEA Cannonical Pathway Set).Number of significant genesets found: 162. 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(121), APC2(1), AXIN1(1), AXIN2(7), BTRC(2), CACYBP(1), CAMK2A(1), CAMK2B(2), CAMK2D(2), CAMK2G(2), CCND2(1), CCND3(1), CER1(3), CHD8(4), CREBBP(21), CSNK1A1(2), CSNK1A1L(5), CSNK2A1(4), CSNK2A2(2), CSNK2B(2), CTBP1(1), CTBP2(2), CTNNB1(8), CTNNBIP1(1), CUL1(7), CXXC4(1), DAAM1(1), DAAM2(5), DKK1(3), DKK2(5), DKK4(4), DVL2(8), DVL3(2), EP300(13), FBXW11(7), FZD10(4), FZD2(2), FZD3(10), FZD4(1), FZD6(3), FZD7(3), FZD8(1), GSK3B(7), LEF1(4), LRP5(5), LRP6(10), MAP3K7(2), MAPK10(4), MAPK8(2), MAPK9(3), MMP7(3), NFAT5(5), NFATC1(1), NFATC2(3), NFATC3(4), NFATC4(4), NKD1(3), NKD2(1), NLK(1), PLCB1(8), PLCB2(3), PLCB3(3), PLCB4(9), PORCN(2), PPARD(1), PPP2CA(1), PPP2R1A(4), PPP2R1B(1), PPP2R2A(1), PPP2R2B(1), PPP2R2C(3), PPP3CA(1), PPP3CB(4), PPP3CC(3), PPP3R1(1), PPP3R2(1), PRICKLE1(8), PRICKLE2(5), PRKACB(1), PRKACG(2), PRKCA(2), PRKCG(8), PRKX(2), PSEN1(3), RHOA(4), ROCK1(8), ROCK2(2), RUVBL1(6), SENP2(2), SFRP1(2), SFRP2(1), SFRP4(3), SFRP5(1), SIAH1(1), SKP1(1), SMAD2(11), SMAD3(6), SMAD4(21), SOX17(2), TBL1X(5), TBL1XR1(6), TCF7(3), TCF7L1(3), TCF7L2(13), TP53(77), VANGL1(2), VANGL2(5), WIF1(2), WNT1(1), WNT10B(3), WNT11(3), WNT16(2), WNT2B(1), WNT3(4), WNT3A(1), WNT4(1), WNT5A(3), WNT7A(2), WNT7B(2), WNT8A(1), WNT9A(2), WNT9B(1)	37707125	631	150	557	120	207	110	8	124	147	35	<1.00e-15	<4.02e-14
2	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(121), AR(4), ASAH1(3), BRAF(21), CCL13(1), CCL15(1), DAG1(4), EGFR(10), GNA11(1), GNA15(3), GNAI1(3), GNAQ(3), ITPKB(4), ITPR1(11), ITPR2(12), ITPR3(11), KCNJ3(6), KCNJ5(3), KCNJ9(2), MAPK1(2), MAPK10(4), MAPK14(3), PHKA2(5), PIK3CA(33), PIK3CD(2), PIK3R1(5), PITX2(2), PTX3(2), RAF1(4), SRC(3)	12617889	291	131	221	54	59	42	8	74	74	34	<1.00e-15	<4.02e-14
3	ST_WNT_BETA_CATENIN_PATHWAY	Beta-catenin is degraded in the absence of Wnt signaling; when extracellular Wnt binds Frizzled receptors, beta-catenin accumulates in the nucleus and may promote cell survival.	AKT1, AKT2, AKT3, ANKRD6, APC, AXIN1, AXIN2, C22orf2, CER1, CSNK1A1, CTNNB1, DACT1, DKK1, DKK2, DKK3, DKK4, DVL1, FRAT1, FSTL1, GSK3A, GSK3B, IDAX, LAMR1, LRP1, MVP, NKD1, NKD2, PIN1, PSEN1, PTPRA, SENP2, SFRP1, TSHB, WIF1	30	AKT1(2), AKT2(5), ANKRD6(5), APC(121), AXIN1(1), AXIN2(7), CER1(3), CSNK1A1(2), CTNNB1(8), DACT1(5), DKK1(3), DKK2(5), DKK3(2), DKK4(4), FSTL1(5), GSK3A(2), GSK3B(7), LRP1(14), MVP(4), NKD1(3), NKD2(1), PIN1(1), PSEN1(3), PTPRA(2), SENP2(2), SFRP1(2), WIF1(2)	9421665	221	126	184	33	52	22	4	32	77	34	<1.00e-15	<4.02e-14
4	CELL_CYCLE_KEGG		ABL1, ASK, ATM, BUB1, BUB1B, BUB3, CCNA1, CCNA2, CCNB1, CCNB2, CCNB3, CCND2, CCND3, CCNE1, CCNE2, CCNH, CDAN1, CDC14A, CDC14B, CDC14B, CDC14C, CDC2, CDC20, CDC25A, CDC25B, CDC25C, CDC45L, CDC6, CDC7, CDH1, CDK2, CDK4, CDKN1A, CDKN2A, CHEK1, CHEK2, DTX4, E2F1, E2F2, E2F3, E2F4, E2F5, E2F6, EP300, ESPL1, FLJ14001, GADD45A, GSK3B, HDAC1, HDAC2, HDAC3, HDAC4, HDAC5, HDAC6, HDAC7A, HDAC8, MAD1L1, MAD2L1, MAD2L2, MCM2, MCM3, MCM4, MCM5, MCM6, MCM7, MDM2, MPEG1, MPL, ORC1L, ORC2L, ORC3L, ORC4L, ORC5L, ORC6L, PCNA, PLK1, PRKDC, PTPRA, PTTG1, PTTG2, PTTG3, RB1, RBL1, SKP2, SMAD4, SMC1L1, TBC1D8, TFDP1, TGFB1, TP53, WEE1	82	ABL1(4), ATM(27), BUB1(4), BUB1B(3), BUB3(2), CCNA1(4), CCNA2(3), CCNB1(2), CCNB2(2), CCNB3(4), CCND2(1), CCND3(1), CCNE1(3), CCNE2(1), CCNH(2), CDAN1(1), CDC14A(1), CDC14B(3), CDC20(3), CDC25A(2), CDC25B(5), CDC25C(3), CDC7(2), CDH1(4), CDK2(2), CDK4(2), CDKN1A(1), CDKN2A(1), CHEK1(1), CHEK2(1), DTX4(3), E2F2(1), E2F3(1), E2F4(1), E2F5(2), EP300(13), ESPL1(8), GSK3B(7), HDAC1(2), HDAC2(2), HDAC3(2), HDAC4(5), HDAC5(1), HDAC6(4), MAD1L1(1), MAD2L1(1), MAD2L2(1), MCM3(1), MCM4(4), MCM5(3), MCM6(3), MCM7(2), MDM2(4), MPEG1(2), MPL(1), ORC1L(1), ORC3L(1), ORC4L(1), ORC5L(1), PCNA(2), PLK1(6), PRKDC(13), PTPRA(2), PTTG1(1), RB1(4), RBL1(3), SKP2(1), SMAD4(21), TBC1D8(5), TFDP1(4), TGFB1(1), TP53(77), WEE1(3)	26179810	317	123	286	54	92	80	4	77	61	3	<1.00e-15	<4.02e-14
5	WNTPATHWAY	The Wnt glycoprotein binds to membrane-bound receptors such as Frizzled to activate a number of signaling pathways, including that of beta-catenin.	APC, AXIN1, BTRC, CCND1, CREBBP, CSNK1A1, CSNK1D, CSNK2A1, CTBP1, CTNNB1, DVL1, FRAT1, FZD1, GSK3B, HDAC1, MADH4, MAP3K7, MAP3K7IP1, MYC, NLK, PPARD, PPP2CA, TCF1, TLE1, WIF1, WNT1	22	APC(121), AXIN1(1), BTRC(2), CREBBP(21), CSNK1A1(2), CSNK1D(3), CSNK2A1(4), CTBP1(1), CTNNB1(8), GSK3B(7), HDAC1(2), MAP3K7(2), NLK(1), PPARD(1), PPP2CA(1), TLE1(1), WIF1(2), WNT1(1)	6774235	181	120	145	22	26	21	2	24	74	34	<1.00e-15	<4.02e-14
6	HSA04730_LONG_TERM_DEPRESSION	Genes involved in long-term depression	ARAF, BRAF, C7orf16, CACNA1A, CRH, CRHR1, GNA11, GNA12, GNA13, GNAI1, GNAI2, GNAI3, GNAO1, GNAQ, GNAS, GNAZ, GRIA1, GRIA2, GRIA3, GRID2, GRM1, GRM5, GUCY1A2, GUCY1A3, GUCY1B3, GUCY2C, GUCY2D, GUCY2F, HRAS, IGF1, IGF1R, ITPR1, ITPR2, ITPR3, KRAS, LYN, MAP2K1, MAP2K2, MAPK1, MAPK3, NOS1, NOS2A, NOS3, NPR1, NPR2, NRAS, PLA2G10, PLA2G12A, PLA2G12B, PLA2G1B, PLA2G2A, PLA2G2D, PLA2G2E, PLA2G2F, PLA2G3, PLA2G4A, PLA2G5, PLA2G6, PLCB1, PLCB2, PLCB3, PLCB4, PPP2CA, PPP2CB, PPP2R1A, PPP2R1B, PPP2R2A, PPP2R2B, PPP2R2C, PRKCA, PRKCB1, PRKCG, PRKG1, PRKG2, RAF1, RYR1	74	ARAF(3), BRAF(21), C7orf16(4), CACNA1A(8), CRHR1(1), GNA11(1), GNA12(2), GNA13(2), GNAI1(3), GNAO1(5), GNAQ(3), GNAS(6), GNAZ(1), GRIA1(18), GRIA2(10), GRIA3(5), GRID2(10), GRM1(9), GRM5(8), GUCY1A2(8), GUCY1A3(12), GUCY1B3(7), GUCY2C(7), GUCY2D(4), GUCY2F(7), IGF1(2), IGF1R(7), ITPR1(11), ITPR2(12), ITPR3(11), KRAS(58), LYN(4), MAP2K1(3), MAPK1(2), MAPK3(2), NOS1(5), NOS3(2), NPR1(6), NPR2(9), NRAS(15), PLA2G1B(1), PLA2G2F(1), PLA2G4A(5), PLA2G6(2), PLCB1(8), PLCB2(3), PLCB3(3), PLCB4(9), PPP2CA(1), PPP2R1A(4), PPP2R1B(1), PPP2R2A(1), PPP2R2B(1), PPP2R2C(3), PRKCA(2), PRKCG(8), PRKG1(4), PRKG2(3), RAF1(4), RYR1(19)	26166699	397	118	317	118	129	105	8	132	23	0	<1.00e-15	<4.02e-14
7	PS1PATHWAY	Presenilin is required for gamma-secretase activity to activate Notch signaling; presenilin also inhibits beta-catenin in the Wnt/Frizzled pathway.	ADAM17, APC, AXIN1, BTRC, CTNNB1, DLL1, DVL1, FZD1, GSK3B, NOTCH1, PSEN1, RBPSUH, TCF1, WNT1	12	ADAM17(6), APC(121), AXIN1(1), BTRC(2), CTNNB1(8), DLL1(1), GSK3B(7), PSEN1(3), WNT1(1)	4716008	150	112	114	13	16	13	1	16	70	34	<1.00e-15	<4.02e-14
8	ST_GRANULE_CELL_SURVIVAL_PATHWAY	The survival and differentiation of granule cells in the brain is controlled by pro-growth PACAP and pro-apoptotic ceramides.	ADPRT, APC, ASAH1, CAMP, CASP3, CERK, CREB1, CREB3, CREB5, CXCL2, DAG1, EPHB2, FOS, GNAQ, IL8RB, ITPKA, ITPKB, JUN, MAP2K4, MAP2K7, MAPK1, MAPK10, MAPK8, MAPK8IP1, MAPK8IP2, MAPK8IP3, MAPK9, PACAP	25	APC(121), ASAH1(3), CASP3(1), CERK(1), CREB1(1), CREB3(2), CREB5(2), DAG1(4), EPHB2(7), GNAQ(3), ITPKB(4), MAP2K4(9), MAPK1(2), MAPK10(4), MAPK8(2), MAPK8IP1(2), MAPK8IP3(1), MAPK9(3)	6561815	172	112	134	22	19	19	4	25	71	34	<1.00e-15	<4.02e-14
9	HSA04720_LONG_TERM_POTENTIATION	Genes involved in long-term potentiation	ADCY1, ADCY8, ARAF, ATF4, BRAF, CACNA1C, CALM1, CALM2, CALM3, CALML3, CALML6, CAMK2A, CAMK2B, CAMK2D, CAMK2G, CAMK4, CHP, CREBBP, EP300, GNAQ, GRIA1, GRIA2, GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D, GRM1, GRM5, HRAS, ITPR1, ITPR2, ITPR3, KRAS, MAP2K1, MAP2K2, MAPK1, MAPK3, NRAS, PLCB1, PLCB2, PLCB3, PLCB4, PPP1CA, PPP1CB, PPP1CC, PPP1R12A, PPP1R1A, PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2, PRKACA, PRKACB, PRKACG, PRKCA, PRKCB1, PRKCG, PRKX, PRKY, RAF1, RAP1A, RAP1B, RAPGEF3, RPS6KA1, RPS6KA2, RPS6KA3, RPS6KA6	67	ADCY1(4), ADCY8(11), ARAF(3), BRAF(21), CACNA1C(10), CAMK2A(1), CAMK2B(2), CAMK2D(2), CAMK2G(2), CAMK4(2), CREBBP(21), EP300(13), GNAQ(3), GRIA1(18), GRIA2(10), GRIN1(1), GRIN2A(15), GRIN2B(8), GRIN2C(2), GRIN2D(3), GRM1(9), GRM5(8), ITPR1(11), ITPR2(12), ITPR3(11), KRAS(58), MAP2K1(3), MAPK1(2), MAPK3(2), NRAS(15), PLCB1(8), PLCB2(3), PLCB3(3), PLCB4(9), PPP1CB(1), PPP1CC(1), PPP1R12A(2), PPP3CA(1), PPP3CB(4), PPP3CC(3), PPP3R1(1), PPP3R2(1), PRKACB(1), PRKACG(2), PRKCA(2), PRKCG(8), PRKX(2), RAF1(4), RAP1A(1), RAP1B(2), RAPGEF3(3), RPS6KA1(1), RPS6KA2(8), RPS6KA3(3), RPS6KA6(5)	23924306	362	111	284	102	116	100	11	110	25	0	<1.00e-15	<4.02e-14
10	HSA04664_FC_EPSILON_RI_SIGNALING_PATHWAY	Genes involved in Fc epsilon RI signaling pathway	AKT1, AKT2, AKT3, BTK, CSF2, FCER1A, FCER1G, FYN, GAB2, GRB2, HRAS, IL13, IL3, IL4, IL5, INPP5D, KRAS, LAT, LCP2, LYN, MAP2K1, MAP2K2, MAP2K3, MAP2K4, MAP2K6, MAP2K7, MAPK1, MAPK10, MAPK11, MAPK12, MAPK13, MAPK14, MAPK3, MAPK8, MAPK9, MS4A2, NRAS, PDK1, PIK3CA, PIK3CB, PIK3CD, PIK3CG, PIK3R1, PIK3R2, PIK3R3, PIK3R5, PLA2G10, PLA2G12A, PLA2G12B, PLA2G1B, PLA2G2A, PLA2G2D, PLA2G2E, PLA2G2F, PLA2G3, PLA2G4A, PLA2G5, PLA2G6, PLCG1, PLCG2, PRKCA, PRKCB1, PRKCD, PRKCE, RAC1, RAC2, RAC3, RAF1, SOS1, SOS2, SYK, TNF, VAV1, VAV2, VAV3	74	AKT1(2), AKT2(5), BTK(6), FCER1A(2), FYN(4), GAB2(1), GRB2(2), IL13(1), IL3(3), IL4(3), INPP5D(2), KRAS(58), LCP2(2), LYN(4), MAP2K1(3), MAP2K3(2), MAP2K4(9), MAP2K6(2), MAPK1(2), MAPK10(4), MAPK12(2), MAPK14(3), MAPK3(2), MAPK8(2), MAPK9(3), MS4A2(1), NRAS(15), PIK3CA(33), PIK3CB(2), PIK3CD(2), PIK3CG(12), PIK3R1(5), PIK3R2(1), PIK3R5(1), PLA2G1B(1), PLA2G2F(1), PLA2G4A(5), PLA2G6(2), PLCG1(4), PLCG2(9), PRKCA(2), PRKCD(3), PRKCE(4), RAF1(4), SOS1(5), SOS2(9), VAV1(11), VAV2(2), VAV3(10)	16837422	273	107	195	44	69	91	9	89	15	0	<1.00e-15	<4.02e-14

Table 7. 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	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(3), HLA-DRA(4), HLA-DRB1(1), IL3(3)	657753	11	11	10	2	5	1	0	3	0	2	0.00076	0.27
2	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	13	AXIN1(1), CREBBP(21), CTNNB1(8), EP300(13), GSK3B(7), HDAC1(2), LDB1(3), LEF1(4), PITX2(2), TRRAP(17), WNT1(1)	6264754	79	46	78	21	33	25	1	8	12	0	0.0012	0.27
3	HSA04080_NEUROACTIVE_LIGAND_RECEPTOR_INTERACTION	Genes involved in neuroactive ligand-receptor interaction	ADCYAP1R1, ADORA1, ADORA2A, ADORA2B, ADORA3, ADRA1A, ADRA1B, ADRA2A, ADRA2B, ADRA2C, ADRB1, ADRB2, ADRB3, AGTR1, AGTR2, AGTRL1, AVPR1A, AVPR1B, AVPR2, BDKRB1, BDKRB2, BRS3, C3AR1, C5AR1, CALCR, CALCRL, CCKAR, CCKBR, CGA, CHRM1, CHRM2, CHRM3, CHRM4, CHRM5, CNR1, CNR2, CRHR1, CRHR2, CTSG, CYSLTR1, CYSLTR2, DRD1, DRD2, DRD3, DRD4, DRD5, EDG1, EDG2, EDG3, EDG4, EDG5, EDG6, EDG7, EDG8, EDNRA, EDNRB, F2, F2R, F2RL1, F2RL2, F2RL3, FPR1, FPRL1, FPRL2, FSHB, FSHR, GABBR1, GABBR2, GABRA1, GABRA2, GABRA3, GABRA4, GABRA5, GABRA6, GABRB1, GABRB2, GABRB3, GABRD, GABRE, GABRG1, GABRG2, GABRG3, GABRP, GABRQ, GABRR1, GABRR2, GALR1, GALR2, GALR3, GCGR, GH1, GH2, GHR, GHRHR, GHSR, GIPR, GLP1R, GLP2R, GLRA1, GLRA2, GLRA3, GLRB, GNRHR, GPR156, GPR23, GPR35, GPR50, GPR63, GPR83, GRIA1, GRIA2, GRIA3, GRIA4, GRID1, GRID2, GRIK1, GRIK2, GRIK3, GRIK4, GRIK5, GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D, GRIN3A, GRIN3B, GRM1, GRM2, GRM3, GRM4, GRM5, GRM6, GRM7, GRM8, GRPR, GZMA, HCRTR1, HCRTR2, HRH1, HRH2, HRH3, HRH4, HTR1A, HTR1B, HTR1D, HTR1E, HTR1F, HTR2A, HTR2B, HTR2C, HTR4, HTR5A, HTR6, HTR7, KISS1R, LEP, LEPR, LHB, LHCGR, LTB4R, LTB4R2, MAS1, MC1R, MC2R, MC3R, MC4R, MC5R, MCHR1, MCHR2, MLNR, MTNR1A, MTNR1B, NMBR, NMUR1, NMUR2, NPBWR1, NPBWR2, NPFFR1, NPFFR2, NPY1R, NPY2R, NPY5R, NR3C1, NTSR1, NTSR2, OPRD1, OPRK1, OPRL1, OPRM1, OXTR, P2RX1, P2RX2, P2RX3, P2RX4, P2RX5, P2RX7, P2RXL1, P2RY1, P2RY10, P2RY11, P2RY13, P2RY14, P2RY2, P2RY4, P2RY5, P2RY6, P2RY8, PARD3, PPYR1, PRL, PRLHR, PRLR, PRSS1, PRSS2, PRSS3, PTAFR, PTGDR, PTGER1, PTGER2, PTGER3, PTGER4, PTGFR, PTGIR, PTH2R, PTHR1, RXFP1, RXFP2, SCTR, SSTR1, SSTR2, SSTR3, SSTR4, SSTR5, TAAR1, TAAR2, TAAR5, TAAR6, TAAR8, TAAR9, TACR1, TACR2, TACR3, TBXA2R, THRA, THRB, TRHR, TRPV1, TSHB, TSHR, TSPO, UTS2R, VIPR1, VIPR2	232	ADCYAP1R1(1), ADORA1(5), ADORA2A(3), ADORA2B(1), ADORA3(3), ADRA1A(5), ADRA1B(4), ADRA2A(3), ADRB1(2), ADRB3(1), AGTR1(3), AGTR2(4), AVPR1A(3), AVPR1B(3), AVPR2(6), BDKRB2(2), BRS3(1), C3AR1(2), C5AR1(2), CALCR(3), CALCRL(5), CCKAR(1), CCKBR(3), CGA(1), CHRM1(3), CHRM2(8), CHRM3(4), CHRM5(1), CNR1(3), CRHR1(1), CRHR2(4), CTSG(2), CYSLTR1(3), CYSLTR2(3), DRD1(1), DRD2(3), DRD3(3), DRD5(2), EDNRA(4), EDNRB(7), F2(2), F2RL2(2), FPR1(2), FSHB(1), FSHR(6), GABBR1(4), GABBR2(3), GABRA1(2), GABRA2(6), GABRA3(4), GABRA4(6), GABRA6(4), GABRB1(6), GABRB2(4), GABRB3(5), GABRE(5), GABRG1(7), GABRG2(8), GABRG3(5), GABRP(2), GABRQ(7), GABRR1(2), GABRR2(3), GALR1(1), GH1(1), GH2(1), GHR(6), GHRHR(2), GHSR(5), GLP1R(2), GLP2R(3), GLRA1(2), GLRA2(2), GLRA3(7), GLRB(6), GNRHR(4), GPR156(6), GPR50(5), GPR63(2), GPR83(1), GRIA2(10), GRIA3(5), GRIA4(12), GRID2(10), GRIK1(5), GRIK2(10), GRIK4(11), GRIK5(5), GRIN1(1), GRIN2A(15), GRIN2B(8), GRIN2C(2), GRIN2D(3), GRIN3A(3), GRM1(9), GRM2(3), GRM3(5), GRM4(7), GRM5(8), GRM6(9), GRM7(8), GRM8(7), GRPR(3), GZMA(2), HCRTR1(1), HCRTR2(1), HRH1(1), HRH2(4), HRH4(2), HTR1A(3), HTR1B(3), HTR1D(2), HTR1E(5), HTR1F(2), HTR2A(2), HTR2B(1), HTR2C(6), HTR4(2), HTR5A(2), HTR7(6), LEP(1), LEPR(5), LHB(1), LHCGR(4), MAS1(1), MC2R(2), MC3R(1), MC4R(3), MC5R(4), MCHR1(6), MCHR2(2), MLNR(3), MTNR1B(3), NMUR1(4), NMUR2(6), NPBWR1(3), NPFFR2(3), NPY1R(4), NPY2R(5), NPY5R(1), NR3C1(3), NTSR1(1), NTSR2(4), OPRD1(1), OPRK1(5), OPRM1(1), OXTR(2), P2RX1(1), P2RX2(1), P2RX3(2), P2RX4(2), P2RX5(1), P2RX7(2), P2RY1(3), P2RY10(6), P2RY13(2), P2RY14(4), P2RY2(2), P2RY4(6), PARD3(5), PPYR1(1), PRL(2), PRLR(2), PRSS1(3), PRSS2(1), PRSS3(4), PTAFR(1), PTGER2(1), PTGER3(6), PTGFR(6), PTGIR(1), PTH2R(6), RXFP1(2), RXFP2(8), SCTR(3), SSTR1(4), SSTR2(2), SSTR4(2), TAAR1(3), TAAR2(2), TAAR5(5), TAAR6(2), TAAR8(1), TAAR9(1), TACR1(2), TACR2(1), TACR3(4), THRA(2), THRB(4), TRHR(6), TRPV1(3), TSHR(6), VIPR1(3), VIPR2(3)	49927640	694	117	691	262	266	153	15	202	58	0	0.0015	0.27
4	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(1), CD3D(1), CD3G(2), CTLA4(1), GRB2(2), HLA-DRA(4), HLA-DRB1(1), ICOS(1), IL2(3), ITK(8), LCK(2), PIK3R1(5), PTPN11(2)	2423198	33	23	32	7	7	9	2	8	5	2	0.0018	0.27
5	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(8), GABRA1(2), GABRA2(6), GABRA3(4), GABRA4(6), GABRA6(4), GPHN(11), NSF(1), SRC(3), UBQLN1(2)	2609190	47	27	45	20	13	9	1	17	7	0	0.0032	0.36
6	GPCRDB_CLASS_A_RHODOPSIN_LIKE		ADORA1, ADORA2A, ADORA2B, ADORA3, ADRA1A, ADRA1B, ADRA1D, ADRA2A, ADRA2C, ADRB1, ADRB2, ADRB3, AGTR1, AGTR2, AGTRL1, AVPR1A, AVPR1B, AVPR2, BDKRB1, BDKRB2, BLR1, BRS3, C3AR1, C5R1, CCBP2, CCKAR, CCKBR, CCR1, CCR10, CCR2, CCR3, CCR4, CCR5, CCR6, CCR7, CCR8, CCR9, CCRL1, CCRL2, CHML, CHRM1, CHRM2, CHRM3, CHRM4, CHRM5, CMKLR1, CMKOR1, CNR1, CNR2, CX3CR1, CXCR3, CXCR4, DRD1, DRD2, DRD3, DRD4, DRD5, EDNRA, EDNRB, ELA3A, F2R, F2RL1, F2RL2, F2RL3, FPR1, FPRL1, FPRL2, FSHR, GALR1, GALR2, GALR3, GALT, GHSR, GNB2L1, GPR10, GPR147, GPR17, GPR173, GPR174, GPR23, GPR24, GPR27, GPR3, GPR30, GPR35, GPR37, GPR37L1, GPR4, GPR44, GPR50, GPR6, GPR63, GPR74, GPR77, GPR83, GPR85, GPR87, GPR92, GRPR, HCRTR1, HCRTR2, HRH1, HRH2, HRH3, HTR1A, HTR1B, HTR1D, HTR1E, HTR1F, HTR2A, HTR2B, HTR2C, HTR4, HTR5A, HTR6, HTR7, HTR7, LOC93164, IL8RA, IL8RB, LHCGR, LTB4R, MAS1, MC1R, MC3R, MC4R, MC5R, MLNR, MTNR1A, MTNR1B, NMBR, NMUR1, NMUR2, NPY1R, NPY2R, NPY5R, NPY6R, NTSR1, NTSR2, OPN1SW, OPN3, OPRD1, OPRK1, OPRL1, OPRM1, OR10A5, OR11A1, OR12D3, OR1C1, OR1F1, OR1Q1, OR2H1, OR5V1, OR5V1, OR12D3, OR7A5, OR7C1, OR8B8, OXTR, P2RY1, P2RY10, P2RY11, P2RY12, P2RY13, P2RY14, P2RY2, P2RY5, P2RY6, PPYR1, PTAFR, PTGDR, PTGER1, PTGER2, PTGER4, PTGFR, PTGIR, Rgr, RGR, RHO, RRH, SSTR1, SSTR2, SSTR3, SSTR4, SUCNR1, TBXA2R, TRHR	162	ADORA1(5), ADORA2A(3), ADORA2B(1), ADORA3(3), ADRA1A(5), ADRA1B(4), ADRA1D(2), ADRA2A(3), ADRB1(2), ADRB3(1), AGTR1(3), AGTR2(4), AVPR1A(3), AVPR1B(3), AVPR2(6), BDKRB2(2), BRS3(1), C3AR1(2), CCBP2(5), CCKAR(1), CCKBR(3), CCR1(5), CCR3(3), CCR5(1), CCR6(2), CCR7(1), CCR8(4), CCR9(4), CCRL1(2), CHML(4), CHRM1(3), CHRM2(8), CHRM3(4), CHRM5(1), CMKLR1(2), CNR1(3), CX3CR1(1), CXCR4(3), DRD1(1), DRD2(3), DRD3(3), DRD5(2), EDNRA(4), EDNRB(7), F2RL2(2), FPR1(2), FSHR(6), GALR1(1), GALT(2), GHSR(5), GPR17(1), GPR173(2), GPR174(2), GPR37(6), GPR37L1(3), GPR4(1), GPR50(5), GPR6(5), GPR63(2), GPR77(1), GPR83(1), GPR85(1), GPR87(4), GRPR(3), HCRTR1(1), HCRTR2(1), HRH1(1), HRH2(4), HTR1A(3), HTR1B(3), HTR1D(2), HTR1E(5), HTR1F(2), HTR2A(2), HTR2B(1), HTR2C(6), HTR4(2), HTR5A(2), HTR7(6), LHCGR(4), MAS1(1), MC3R(1), MC4R(3), MC5R(4), MLNR(3), MTNR1B(3), NMUR1(4), NMUR2(6), NPY1R(4), NPY2R(5), NPY5R(1), NTSR1(1), NTSR2(4), OPN1SW(3), OPN3(1), OPRD1(1), OPRK1(5), OPRM1(1), OR12D3(1), OR1C1(1), OR1F1(2), OR2H1(3), OR5V1(2), OR7A5(3), OR8B8(2), OXTR(2), P2RY1(3), P2RY10(6), P2RY12(3), P2RY13(2), P2RY14(4), P2RY2(2), PPYR1(1), PTAFR(1), PTGER2(1), PTGFR(6), PTGIR(1), RGR(2), RHO(2), RRH(2), SSTR1(4), SSTR2(2), SSTR4(2), TRHR(6)	27582563	350	94	351	123	144	85	5	90	26	0	0.0035	0.36
7	1_AND_2_METHYLNAPHTHALENE_DEGRADATION		ADH1A, ADH1A, ADH1B, ADH1C, ADH1B, ADH1C, ADH4, ADH6, ADH7, ADHFE1	7	ADH1B(2), ADH1C(3), ADH4(1), ADH6(5), ADH7(2), ADHFE1(6)	1307115	19	16	19	5	3	4	1	11	0	0	0.005	0.37
8	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	79	ABL1(4), ABL2(5), AKT1(2), AKT2(5), ARAF(3), BAD(1), BTC(2), CAMK2A(1), CAMK2B(2), CAMK2D(2), CAMK2G(2), CBL(2), CBLB(6), CDKN1A(1), CDKN1B(1), CRKL(2), EGF(3), EGFR(10), ERBB2(6), ERBB3(11), EREG(1), GAB1(6), GRB2(2), GSK3B(7), HBEGF(1), MAP2K1(3), MAPK1(2), MAPK10(4), MAPK3(2), MAPK8(2), MAPK9(3), NRG1(9), NRG2(4), NRG3(3), NRG4(1), PAK1(4), PAK2(2), PAK3(3), PAK6(1), PAK7(4), PIK3CB(2), PIK3CD(2), PIK3CG(12), PIK3R1(5), PIK3R2(1), PIK3R5(1), PLCG1(4), PLCG2(9), PRKCA(2), PRKCG(8), PTK2(5), RAF1(4), RPS6KB1(3), RPS6KB2(1), SHC1(3), SHC3(1), SHC4(5), SOS1(5), SOS2(9), SRC(3), STAT5B(2)	22279133	222	77	216	71	77	54	9	52	30	0	0.0064	0.37
9	MONOAMINE_GPCRS		ADRA1A, ADRA1B, ADRA1D, ADRA2A, ADRA2C, ADRB1, ADRB2, ADRB3, CHRM1, CHRM2, CHRM3, CHRM4, CHRM5, DRD1, DRD2, DRD3, DRD4, DRD5, HRH1, HRH2, HTR1A, HTR1B, HTR1D, HTR1E, HTR1F, HTR2A, HTR2B, HTR2C, HTR4, HTR5A, HTR6, HTR7, HTR7, LOC93164	32	ADRA1A(5), ADRA1B(4), ADRA1D(2), ADRA2A(3), ADRB1(2), ADRB3(1), CHRM1(3), CHRM2(8), CHRM3(4), CHRM5(1), DRD1(1), DRD2(3), DRD3(3), DRD5(2), HRH1(1), HRH2(4), HTR1A(3), HTR1B(3), HTR1D(2), HTR1E(5), HTR1F(2), HTR2A(2), HTR2B(1), HTR2C(6), HTR4(2), HTR5A(2), HTR7(6)	5918446	81	46	81	31	37	22	1	12	9	0	0.0066	0.37
10	ERBB3PATHWAY	Neuregulins bind to the receptor tyrosine kinases ErbB3 and ErbB4, surface-localized receptors whose overexpression induces tumor formation.	EGF, EGFR, ERBB3, NRG1, UBE2D1	5	EGF(3), EGFR(10), ERBB3(11), NRG1(9), UBE2D1(1)	2391404	34	26	31	6	16	7	0	7	4	0	0.0067	0.37

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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