Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
GRIN2A	2903	broad.mit.edu	37	16	9858195	9858195	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr16:9858195G>A	ENST00000396573.2	-	14	3515	c.3206C>T	c.(3205-3207)aCg>aTg	p.T1069M	GRIN2A_ENST00000562109.1_Missense_Mutation_p.T1069M|GRIN2A_ENST00000404927.2_Missense_Mutation_p.T1069M|GRIN2A_ENST00000535259.1_Missense_Mutation_p.T912M|GRIN2A_ENST00000330684.3_Missense_Mutation_p.T1069M|GRIN2A_ENST00000396575.2_Missense_Mutation_p.T1069M	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1069					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.T1069M(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCTGTGGCACGTGGCCCGATT	0.502000													28	104					0	0	0.681144	0	0
DEFB121	245934	broad.mit.edu	37	20	29992817	29992817	+	Missense_Mutation	SNP	A	A	G			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr20:29992817A>G	ENST00000376314.2	-	2	243	c.130T>C	c.(130-132)Tgc>Cgc	p.C44R	DEFB121_ENST00000376312.3_5'UTR	NM_001011878.2	NP_001011878.1	Q5J5C9	DB121_HUMAN	defensin, beta 121	44					defense response to bacterium	extracellular region		p.C44R(1)		large_intestine(1)|lung(1)	2	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TCAGTTTTGCATAATATATAG	0.388000													18	84					0	0	0.520397	0	0
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867		TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr1:145302714A>G	ENST00000342960.5	+	8	1187	c.1152A>G	c.(1150-1152)ttA>ttG	p.L384L	NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	384								p.L113L(3)|p.L384L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527000													4	130					0	0	0.184627	0	0
TENM2	57451	broad.mit.edu	37	5	167642247	167642247	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr5:167642247G>T	ENST00000519204.1	+	20	3803	c.3685G>T	c.(3685-3687)Gcc>Tcc	p.A1229S	TENM2_ENST00000520394.1_Missense_Mutation_p.A1111S|TENM2_ENST00000545108.1_Missense_Mutation_p.A1349S|TENM2_ENST00000403607.2_Missense_Mutation_p.A1174S|TENM2_ENST00000518659.1_Missense_Mutation_p.A1350S					teneurin transmembrane protein 2									p.A1229S(1)|p.A1183S(1)|p.A1350S(1)									TGGAGGGAAGGCCATAGATGC	0.557000													3	60					0.004672	0.00498347	0.115264	1	0
TGIF2LX	90316	broad.mit.edu	37	X	89177431	89177431	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chrX:89177431G>A	ENST00000561129.2	+	1	477	c.347G>A	c.(346-348)cGt>cAt	p.R116H	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.R116H			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	116						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R116H(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						CTTCAACAGCGTAGAAACGAC	0.522000													25	78					0	0	0.769981	0	0
CYFIP2	26999	broad.mit.edu	37	5	156787321	156787321	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr5:156787321C>T	ENST00000347377.6	+	25	3280	c.2849C>T	c.(2848-2850)aCa>aTa	p.T950I	CYFIP2_ENST00000442283.2_3'UTR|CYFIP2_ENST00000377576.3_Missense_Mutation_p.T950I|CYFIP2_ENST00000435847.2_Missense_Mutation_p.T649I|CYFIP2_ENST00000522463.1_Missense_Mutation_p.T754I|CYFIP2_ENST00000521420.1_Missense_Mutation_p.T924I|CYFIP2_ENST00000318218.6_Missense_Mutation_p.T975I|CYFIP2_ENST00000541131.1_Missense_Mutation_p.T875I	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	975					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	p.T975I(2)|p.T950I(1)		breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TATGTGAAAACACTGATAGAG	0.512000													16	107					0	0	0.520397	0	0
CEP135	9662	broad.mit.edu	37	4	56830457	56830457	+	Silent	SNP	A	A	C			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr4:56830457A>C	ENST00000257287.4	+	7	841	c.717A>C	c.(715-717)cgA>cgC	p.R239R		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	239					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	p.R239R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					TAAGAGAACGAGAGATAGAAC	0.363000													7	61					0	0	0.307466	0	0
AGRN	375790	broad.mit.edu	37	1	984830	984830	+	Splice_Site	SNP	G	G	A			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr1:984830G>A	ENST00000379370.2	+	25	4563	c.4514_splice	c.e25+1	p.V1505_splice		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1505	Laminin G-like 1.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	p.V1505M(1)		breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CCAGGCTGCCGTGTGAGTCCC	0.677000													6	19					0	0	0.248553	0	0
FERD3L	222894	broad.mit.edu	37	7	19184591	19184591	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr7:19184591G>A	ENST00000275461.3	-	1	453	c.395C>T	c.(394-396)gCt>gTt	p.A132V	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	132	Helix-loop-helix motif.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.A132V(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						TTTCTCGTAAGCAAACGTGGG	0.582000													12	124					0	0	0.411799	0	0
TKTL1	8277	broad.mit.edu	37	X	153553709	153553709	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chrX:153553709C>T	ENST00000369915.3	+	10	1531	c.1342C>T	c.(1342-1344)Cga>Tga	p.R448*	TKTL1_ENST00000217905.7_Nonsense_Mutation_p.R188*|TKTL1_ENST00000369912.2_Nonsense_Mutation_p.R392*	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	448					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity	p.R448*(1)		NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCGGACCACCCGACCAGAAAC	0.468000													21	84					0	0	0.624587	0	0
AHNAK	79026	broad.mit.edu	37	11	62298187	62298187	+	Silent	SNP	G	G	C			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr11:62298187G>C	ENST00000378024.4	-	5	3976	c.3702C>G	c.(3700-3702)ccC>ccG	p.P1234P	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1234					nervous system development	nucleus	protein binding	p.P1234P(2)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGTCCATTTTGGGTCCTTTGA	0.483000													64	297					0	0	0.870114	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													4	69					0	0	0.278610	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	RNA	SNP	C	C	T			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269000													6	193					0	0	0.217242	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					3	44					0	0	0.150653	0	0
RBP3	5949	broad.mit.edu	37	10	48389514	48389514	+	Missense_Mutation	SNP	A	A	G			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr10:48389514A>G	ENST00000224600.4	-	1	1477	c.1364T>C	c.(1363-1365)gTg>gCg	p.V455A		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	455	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	p.V455A(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TGGGGCCAACACACCCAGGAC	0.622000													6	30					0	0	0.278610	0	0
MANEAL	149175	broad.mit.edu	37	1	38260316	38260316	+	Silent	SNP	C	C	G			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr1:38260316C>G	ENST00000373045.6	+	1	843	c.462C>G	c.(460-462)tcC>tcG	p.S154S	MANEAL_ENST00000397631.3_Silent_p.S154S	NM_001113482.1	NP_001106954.1	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like	154						Golgi membrane|integral to membrane	hydrolase activity	p.S154S(1)		endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ACTTGGGCTCCAGCTTCTACC	0.677000													3	20					0	0	0.115264	0	0
C9orf3	84909	broad.mit.edu	37	9	97522766	97522766	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr9:97522766C>T	ENST00000375315.2	+	1	701	c.701C>T	c.(700-702)gCt>gTt	p.A234V	C9orf3_ENST00000297979.5_Missense_Mutation_p.A234V|C9orf3_ENST00000277198.2_Missense_Mutation_p.A234V	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	234					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.A234V(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		AAGACAGGGGCTCAGACAGCT	0.517000													7	18					0	0	0.248553	0	0
SLC9A5	6553	broad.mit.edu	37	16	67298944	67298944	+	Splice_Site	SNP	A	A	C			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr16:67298944A>C	ENST00000299798.11	+	14	2080	c.2013_splice	c.e14-1	p.K672_splice		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	672					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	p.K672T(1)		breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		GGTCCTCAGAAGGATGGTGTG	0.562000													6	56					0	0	0.217242	0	0
TTLL12	23170	broad.mit.edu	37	22	43564118	43564118	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr22:43564118C>T	ENST00000216129.6	-	14	1894	c.1831G>A	c.(1831-1833)Gac>Aac	p.D611N	TTLL12_ENST00000494035.1_5'UTR	NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	611	TTL.				protein modification process		tubulin-tyrosine ligase activity	p.D611N(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				CGCTCACAGTCGGGGTTGAAG	0.597000													19	49					0	0	0.575678	0	0
FOLH1	2346	broad.mit.edu	37	11	49178267	49178267	+	Splice_Site	SNP	A	A	G			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr11:49178267A>G	ENST00000340334.7	-	16	1947		c.e16+1		FOLH1_ENST00000256999.2_Splice_Site|FOLH1_ENST00000343844.4_Splice_Site|FOLH1_ENST00000533034.1_Splice_Site|FOLH1_ENST00000356696.3_Splice_Site	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1						proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	p.?(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	AGATTCACTTACCCAATTTTT	0.328000													26	144					0	0	0.740014	0	0
MAN2A1	4124	broad.mit.edu	37	5	109091091	109091091	+	Missense_Mutation	SNP	A	A	G			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr5:109091091A>G	ENST00000261483.4	+	5	1821	c.769A>G	c.(769-771)Act>Gct	p.T257A		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	257					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	p.T257A(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		TGATGAAGCTACTCCACATTA	0.328000													16	90					0	0	0.557998	0	0
PI4KA	5297	broad.mit.edu	37	22	21083678	21083678	+	Silent	SNP	C	C	G			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr22:21083678C>G	ENST00000255882.6	-	39	4691	c.4605G>C	c.(4603-4605)ctG>ctC	p.L1535L	PI4KA_ENST00000572273.1_Silent_p.L1477L|PI4KA_ENST00000414196.3_Silent_p.L287L	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1477					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	p.L1477L(2)		breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GCTTCTCACTCAGGCTGATGT	0.607000													2	10					0	0	0.115264	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971077	21971077	+	Missense_Mutation	SNP	A	A	G			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr9:21971077A>G	ENST00000304494.5	-	2	551	c.281T>C	c.(280-282)cTg>cCg	p.L94P	CDKN2A_ENST00000494262.1_Missense_Mutation_p.L43P|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000497750.1_Missense_Mutation_p.L43P|CDKN2A_ENST00000361570.3_Silent_p.A149A|CDKN2A_ENST00000479692.2_Missense_Mutation_p.L43P|CDKN2A_ENST00000498124.1_Missense_Mutation_p.L94P|CDKN2A_ENST00000579122.1_Missense_Mutation_p.L94P|CDKN2A_ENST00000498628.2_Missense_Mutation_p.L43P|CDKN2A_ENST00000578845.2_Missense_Mutation_p.L43P|CDKN2A_ENST00000579755.1_Silent_p.A108A|CDKN2A_ENST00000446177.1_Missense_Mutation_p.L94P|CDKN2A_ENST00000530628.2_Silent_p.A108A	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	94			L -> Q (in CMM2).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.L94P(2)|p.H83fs*2(2)|p.E61_L94del(1)|p.0(1)|p.L94fs*52(1)|p.T93_D105del(1)|p.G150fs*25(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.A149A(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGCACCACCAGCGTGTCCAG	0.741000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			4	15					0	0	0.217242	0	0
AGO1	26523	broad.mit.edu	37	1	36383924	36383924	+	Splice_Site	SNP	T	T	C			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr1:36383924T>C	ENST00000373204.4	+	17	2378	c.2163_splice	c.e17-1	p.I722_splice	AGO1_ENST00000373206.1_Splice_Site_p.I647_splice	NM_012199.2	NP_036331.1			argonaute RISC catalytic component 1									p.I722T(1)									TCTATACAGATTGGGAAGAGT	0.502000													39	175					0	0	0.827153	0	0
INADL	10207	broad.mit.edu	37	1	62455859	62455859	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr1:62455859T>A	ENST00000371158.2	+	28	3804	c.3690T>A	c.(3688-3690)taT>taA	p.Y1230*	INADL_ENST00000316485.6_Nonsense_Mutation_p.Y1230*|INADL_ENST00000545929.1_5'UTR|INADL_ENST00000543708.1_Nonsense_Mutation_p.Y14*	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1230					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	p.Y1230*(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GACAAAGATATGCAGATCTGC	0.353000													17	28					0	0	0.520397	0	0
CUX1	1523	broad.mit.edu	37	7	101801866	101801866	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr7:101801866C>T	ENST00000360264.3	+	9	754	c.734C>T	c.(733-735)aCg>aTg	p.T245M	CUX1_ENST00000292538.4_Missense_Mutation_p.T245M|CUX1_ENST00000556210.1_Missense_Mutation_p.T234M|CUX1_ENST00000550008.2_Missense_Mutation_p.T234M|CUX1_ENST00000547394.2_Missense_Mutation_p.T229M|CUX1_ENST00000425244.2_Missense_Mutation_p.T199M|CUX1_ENST00000393824.3_Missense_Mutation_p.T208M|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000437600.4_Missense_Mutation_p.T245M|CUX1_ENST00000549414.2_Missense_Mutation_p.T234M|CUX1_ENST00000546411.2_Missense_Mutation_p.T234M|CUX1_ENST00000292535.7_Missense_Mutation_p.T234M	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	234					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.T245M(1)|p.T234M(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						ATGATCATGACGGACCTTGAA	0.562000													3	54					0	0	0.150653	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144918885	144918885	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr1:144918885T>C	ENST00000529945.1	-	6	2229	c.1790A>G	c.(1789-1791)cAa>cGa	p.Q597R	PDE4DIP_ENST00000479408.2_Missense_Mutation_p.Q221R|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.Q434R|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.Q434R|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.Q434R|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.Q571R|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.Q571R|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.Q500R|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.Q434R|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.Q597R			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	434					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	p.Q434R(2)|p.Q597R(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTGGATGTTTTGTTCCTGGGT	0.438000			T	PDGFRB	MPD								168	587					0	0	0.870114	0	0
BRPF1	7862	broad.mit.edu	37	3	9780966	9780966	+	Missense_Mutation	SNP	A	A	G			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr3:9780966A>G	ENST00000383829.2	+	3	1287	c.883A>G	c.(883-885)Atg>Gtg	p.M295V	BRPF1_ENST00000424362.1_Missense_Mutation_p.M295V|BRPF1_ENST00000302054.3_Missense_Mutation_p.M295V|BRPF1_ENST00000433861.2_Missense_Mutation_p.M295V|BRPF1_ENST00000457855.1_Missense_Mutation_p.M295V	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	295					histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding	p.M295V(1)		central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					CTTCTGTGACATGTGCAACCT	0.557000													10	30					0	0	0.387290	0	0
SAGE1	55511	broad.mit.edu	37	X	134987534	134987534	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chrX:134987534T>C	ENST00000535938.1	+	5	604	c.437T>C	c.(436-438)aTg>aCg	p.M146T	SAGE1_ENST00000324447.3_Missense_Mutation_p.M146T|SAGE1_ENST00000537770.1_Missense_Mutation_p.M146T|SAGE1_ENST00000370709.3_Missense_Mutation_p.M146T	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	146								p.M146T(1)		breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					ATTCCATCCATGAGTACCAGG	0.423000													6	109					0	0	0.217242	0	0
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	RNA	SNP	G	G	A	rs150520281	by1000genomes	TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr16:21817457G>A	ENST00000546471.1	-	0	1601																											CTTACATCCAGCTTGAGTAGT	0.259000													3	22					0	0	0.150653	0	0
METAP1	23173	broad.mit.edu	37	4	99982307	99982307	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr4:99982307G>A	ENST00000296411.6	+	11	1134	c.1000G>A	c.(1000-1002)Gga>Aga	p.G334R	METAP1_ENST00000544031.1_Missense_Mutation_p.G284R	NM_015143.2	NP_055958.2	P53582	AMPM1_HUMAN	methionyl aminopeptidase 1	334					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis|regulation of translation	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity|protein binding	p.G334R(2)		endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(123;3.12e-07)		TGTTGAAGGCGGATGGCAGGA	0.443000													19	105					0	0	0.575678	0	0
SLC24A2	25769	broad.mit.edu	37	9	19786259	19786259	+	Silent	SNP	G	G	A	rs147285634	by1000genomes	TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr9:19786259G>A	ENST00000341998.2	-	1	667	c.606C>T	c.(604-606)aaC>aaT	p.N202N	SLC24A2_ENST00000286344.3_Silent_p.N202N	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	202					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	p.N202N(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		CTATGCCAACGTTGCTGTGAG	0.463000													20	55					0	0	0.624587	0	0
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378000	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			14	34					0	0	0.479597	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					3	44					0	0	0.150653	0	0
CDC42EP2	10435	broad.mit.edu	37	11	65088480	65088480	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr11:65088480C>A	ENST00000544348.1	+	2	717	c.111C>A	c.(109-111)ttC>ttA	p.F37L	CDC42EP2_ENST00000279249.2_Missense_Mutation_p.F37L|CDC42EP2_ENST00000533419.1_Missense_Mutation_p.F37L			O14613	BORG1_HUMAN	CDC42 effector protein (Rho GTPase binding) 2	37	CRIB.				actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape	cytoplasm|cytoskeleton|endomembrane system|plasma membrane	GTP-Rho binding|Rho GTPase activator activity	p.F37L(1)		lung(1)	1						TGGGGGACTTCCGCCACACCA	0.607000													15	53					1.02788e-11	1.15411e-11	0.520397	1	0
TLR6	10333	broad.mit.edu	37	4	38830532	38830532	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr4:38830532G>A	ENST00000436693.2	-	2	682	c.563C>T	c.(562-564)aCa>aTa	p.T188I	TLR6_ENST00000381950.1_Missense_Mutation_p.T188I	NM_006068.4	NP_006059.2	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	188					activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity	p.T188I(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TAGACTTTCTGTCTCATTTTC	0.328000													8	35					0	0	0.307466	0	0
IRF3	3661	broad.mit.edu	37	19	50167985	50167985	+	Silent	SNP	A	A	G			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr19:50167985A>G	ENST00000597198.1	-	2	492	c.111T>C	c.(109-111)ccT>ccC	p.P37P	IRF3_ENST00000596822.1_Intron|IRF3_ENST00000596765.1_Intron|IRF3_ENST00000377139.3_Silent_p.P37P|IRF3_ENST00000599144.1_Intron|IRF3_ENST00000601291.1_Silent_p.P37P|IRF3_ENST00000599223.1_Silent_p.P37P|IRF3_ENST00000600911.1_Silent_p.P37P|IRF3_ENST00000442265.2_Silent_p.P37P|IRF3_ENST00000600022.1_Intron|IRF3_ENST00000598808.1_Intron|IRF3_ENST00000309877.7_Silent_p.P37P|IRF3_ENST00000593922.1_Intron|IRF3_ENST00000377135.4_Silent_p.P37P			Q14653	IRF3_HUMAN	interferon regulatory factor 3	37					interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	p.P37P(1)		breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		CGTGCTTCCAAGGGATGCGGA	0.657000													25	87					0	0	0.740014	0	0
EPHA3	2042	broad.mit.edu	37	3	89462377	89462377	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr3:89462377G>T	ENST00000336596.2	+	10	2074	c.1849G>T	c.(1849-1851)Gat>Tat	p.D617Y	EPHA3_ENST00000494014.1_Missense_Mutation_p.D617Y	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	617						extracellular region|integral to plasma membrane	ATP binding	p.D617Y(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CAAGGAATTGGATGCCACCAA	0.433000										TSP Lung(6;0.00050)			21	62					2.37509e-13	2.71439e-13	0.592651	1	0
CABLES1	91768	broad.mit.edu	37	18	20814573	20814573	+	Splice_Site	SNP	G	G	A			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr18:20814573G>A	ENST00000256925.7	+	5	1090	c.1088_splice	c.e5-1	p.D364_splice	CABLES1_ENST00000400473.2_Splice_Site_p.D37_splice|CABLES1_ENST00000585061.1_Intron|TMEM241_ENST00000450466.2_Intron|CABLES1_ENST00000420687.2_Splice_Site_p.D99_splice	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	364	Interacts with CDK3 (By similarity).				blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding	p.D364N(1)		breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TCCTCCCAGGGACTTGAAGTT	0.478000													7	9					0	0	0.307466	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44806175	44806175	+	Silent	SNP	G	G	A			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr7:44806175G>A	ENST00000309315.4	+	18	2691	c.2568G>A	c.(2566-2568)acG>acA	p.T856T	ZMIZ2_ENST00000433667.1_Silent_p.T824T|ZMIZ2_ENST00000441627.1_Silent_p.T856T|ZMIZ2_ENST00000265346.7_Silent_p.T830T|ZMIZ2_ENST00000463931.1_3'UTR|ZMIZ2_ENST00000413916.1_Silent_p.T798T	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	856	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	p.T856T(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TAGGACCTACGGGTGAACTGG	0.662000													23	63					0	0	0.654019	0	0
WBP2NL	164684	broad.mit.edu	37	22	42415801	42415801	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr22:42415801C>T	ENST00000328823.9	+	3	338	c.307C>T	c.(307-309)Cca>Tca	p.P103S	WBP2NL_ENST00000543212.1_Missense_Mutation_p.P29S	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	103					egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding	p.P103S(1)		breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						TCAGGCAGCTCCATATGGTAA	0.363000													30	74					0	0	0.740014	0	0
LAMB1	3912	broad.mit.edu	37	7	107626714	107626714	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr7:107626714G>A	ENST00000393561.1	-	4	774	c.590C>T	c.(589-591)tCg>tTg	p.S197L	LAMB1_ENST00000393560.1_Missense_Mutation_p.S173L|LAMB1_ENST00000222399.6_Missense_Mutation_p.S173L			P07942	LAMB1_HUMAN	laminin, beta 1	173	Laminin N-terminal.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	p.S173L(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCCTGGAAACGAGGCCTCACA	0.453000													6	106					0	0	0.278610	0	0
ATP8B4	79895	broad.mit.edu	37	15	50211114	50211114	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr15:50211114G>A	ENST00000284509.6	-	19	2098	c.1957C>T	c.(1957-1959)Cag>Tag	p.Q653*	ATP8B4_ENST00000559829.1_Nonsense_Mutation_p.Q653*	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	653					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.Q653*(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		ACACCCTCCTGTAACTTATCT	0.343000													20	95					0	0	0.624587	0	0
GRM5	2915	broad.mit.edu	37	11	88780796	88780796	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr11:88780796T>C	ENST00000418177.2	-	2	612	c.245A>G	c.(244-246)gAc>gGc	p.D82G	GRM5_ENST00000393297.1_Missense_Mutation_p.D82G|GRM5_ENST00000305432.5_Missense_Mutation_p.D82G|GRM5_ENST00000455756.2_Missense_Mutation_p.D82G|GRM5_ENST00000305447.4_Missense_Mutation_p.D82G|GRM5_ENST00000393294.3_Missense_Mutation_p.D82G			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	82					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.D82G(2)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	GAGTGTGGGGTCTGAATTGAT	0.527000													13	16					0	0	0.500413	0	0
TP53	7157	broad.mit.edu	37	17	7573967	7573967	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr17:7573967G>A	ENST00000269305.4	-	10	1249	c.1060C>T	c.(1060-1062)Cag>Tag	p.Q354*	TP53_ENST00000359597.4_Intron|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q354*|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000420246.2_3'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	354	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		Q -> E (in a sporadic cancer; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.Q354*(2)|p.I332fs*5(1)|p.Q354K(1)|p.?(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTCCCAGCCTGGGCATCCTTG	0.597000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			4	18					0	0	0.184627	0	0
CAMK2D	817	broad.mit.edu	37	4	114530323	114530323	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr4:114530323T>C	ENST00000454265.2	-	4	1118	c.260A>G	c.(259-261)tAc>tGc	p.Y87C	CAMK2D_ENST00000514328.1_Missense_Mutation_p.Y87C|CAMK2D_ENST00000379773.2_Missense_Mutation_p.Y87C|CAMK2D_ENST00000394522.3_Missense_Mutation_p.Y87C|CAMK2D_ENST00000505990.1_Missense_Mutation_p.Y87C|CAMK2D_ENST00000394524.3_Missense_Mutation_p.Y87C|CAMK2D_ENST00000394526.2_Missense_Mutation_p.Y87C|CAMK2D_ENST00000296402.5_Missense_Mutation_p.Y87C|CAMK2D_ENST00000515496.1_Missense_Mutation_p.Y87C|CAMK2D_ENST00000511664.1_Missense_Mutation_p.Y87C|CAMK2D_ENST00000342666.5_Missense_Mutation_p.Y87C|CAMK2D_ENST00000418639.2_Missense_Mutation_p.Y87C|CAMK2D_ENST00000508738.1_Missense_Mutation_p.Y87C|CAMK2D_ENST00000429180.1_Missense_Mutation_p.Y87C			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	87	Protein kinase.				interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	p.Y87C(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		AAACACCAAGTAGTGAAAGCC	0.323000													23	34					0	0	0.706142	0	0
SCN5A	6331	broad.mit.edu	37	3	38592973	38592973	+	Silent	SNP	T	T	A			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr3:38592973T>A	ENST00000413689.1	-	28	5083	c.4890A>T	c.(4888-4890)atA>atT	p.I1630I	SCN5A_ENST00000423572.2_Silent_p.I1629I|SCN5A_ENST00000414099.2_Silent_p.I1612I|SCN5A_ENST00000425664.1_Silent_p.I1612I|SCN5A_ENST00000443581.1_Silent_p.I1629I|SCN5A_ENST00000450102.2_Silent_p.I1576I|SCN5A_ENST00000449557.2_Silent_p.I1576I|SCN5A_ENST00000333535.4_Silent_p.I1630I|SCN5A_ENST00000451551.2_Silent_p.I1576I|SCN5A_ENST00000455624.2_Silent_p.I1597I	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1630					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	p.I1630I(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GGATGCGGCCTATTCGGGCCA	0.597000													18	60					0	0	0.592651	0	0
UBQLN1	29979	broad.mit.edu	37	9	86276788	86276788	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr9:86276788G>T	ENST00000376395.4	-	11	2207	c.1684C>A	c.(1684-1686)Cgt>Agt	p.R562S	UBQLN1_ENST00000257468.7_Missense_Mutation_p.R534S	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	562	UBA.				apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding	p.R562S(1)		breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						TTTGCTTCACGGTTCAAAAAT	0.388000													4	82					0.150653	0.158063	0.150653	1	0
CIB3	117286	broad.mit.edu	37	19	16284278	16284278	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr19:16284278G>T	ENST00000269878.4	-	1	58	c.9C>A	c.(7-9)aaC>aaA	p.N3K	CIB3_ENST00000541493.1_5'UTR|CIB3_ENST00000379859.3_Missense_Mutation_p.N3K	NM_054113.2	NP_473454.1	Q96Q77	CIB3_HUMAN	calcium and integrin binding family member 3	3							calcium ion binding	p.N3K(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						CTGTCTGCTTGTTGCCCATGG	0.592000													19	52					1.28384e-07	1.41665e-07	0.608945	1	0
GRIN2A	2903	broad.mit.edu	37	16	9858195	9858195	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	98d3effe-3109-4a06-a9f0-c152d576a1ff	g.chr16:9858195G>A	ENST00000396573.2	-	14	3515	c.3206C>T	c.(3205-3207)aCg>aTg	p.T1069M	GRIN2A_ENST00000535259.1_Missense_Mutation_p.T912M|GRIN2A_ENST00000330684.3_Missense_Mutation_p.T1069M|GRIN2A_ENST00000562109.1_Missense_Mutation_p.T1069M|GRIN2A_ENST00000396575.2_Missense_Mutation_p.T1069M|GRIN2A_ENST00000404927.2_Missense_Mutation_p.T1069M	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1069					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.T1069M(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCTGTGGCACGTGGCCCGATT	0.502000													28	104					0	0	0.681144	0	0
DEFB121	245934	broad.mit.edu	37	20	29992817	29992817	+	Missense_Mutation	SNP	A	A	G			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	98d3effe-3109-4a06-a9f0-c152d576a1ff	g.chr20:29992817A>G	ENST00000376314.2	-	2	243	c.130T>C	c.(130-132)Tgc>Cgc	p.C44R	DEFB121_ENST00000376312.3_5'UTR	NM_001011878.2	NP_001011878.1	Q5J5C9	DB121_HUMAN	defensin, beta 121	44					defense response to bacterium	extracellular region		p.C44R(1)		large_intestine(1)|lung(1)	2	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TCAGTTTTGCATAATATATAG	0.388000													18	84					0	0	0.520397	0	0
TENM2	57451	broad.mit.edu	37	5	167642247	167642247	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	98d3effe-3109-4a06-a9f0-c152d576a1ff	g.chr5:167642247G>T	ENST00000519204.1	+	20	3803	c.3685G>T	c.(3685-3687)Gcc>Tcc	p.A1229S	TENM2_ENST00000545108.1_Missense_Mutation_p.A1349S|TENM2_ENST00000520394.1_Missense_Mutation_p.A1111S|TENM2_ENST00000403607.2_Missense_Mutation_p.A1174S|TENM2_ENST00000518659.1_Missense_Mutation_p.A1350S					teneurin transmembrane protein 2									p.A1229S(1)|p.A1183S(1)|p.A1350S(1)									TGGAGGGAAGGCCATAGATGC	0.557000													3	60					0.004672	0.00499421	0.115264	1	0
TGIF2LX	90316	broad.mit.edu	37	X	89177431	89177431	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	98d3effe-3109-4a06-a9f0-c152d576a1ff	g.chrX:89177431G>A	ENST00000561129.2	+	1	477	c.347G>A	c.(346-348)cGt>cAt	p.R116H	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.R116H			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	116						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R116H(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						CTTCAACAGCGTAGAAACGAC	0.522000													25	78					0	0	0.769981	0	0
CYFIP2	26999	broad.mit.edu	37	5	156787321	156787321	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	98d3effe-3109-4a06-a9f0-c152d576a1ff	g.chr5:156787321C>T	ENST00000347377.6	+	25	3280	c.2849C>T	c.(2848-2850)aCa>aTa	p.T950I	CYFIP2_ENST00000522463.1_Missense_Mutation_p.T754I|CYFIP2_ENST00000442283.2_3'UTR|CYFIP2_ENST00000318218.6_Missense_Mutation_p.T975I|CYFIP2_ENST00000435847.2_Missense_Mutation_p.T649I|CYFIP2_ENST00000521420.1_Missense_Mutation_p.T924I|CYFIP2_ENST00000377576.3_Missense_Mutation_p.T950I|CYFIP2_ENST00000541131.1_Missense_Mutation_p.T875I	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	975					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	p.T975I(2)|p.T950I(1)		breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TATGTGAAAACACTGATAGAG	0.512000													16	107					0	0	0.520397	0	0
CEP135	9662	broad.mit.edu	37	4	56830457	56830457	+	Silent	SNP	A	A	C			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	98d3effe-3109-4a06-a9f0-c152d576a1ff	g.chr4:56830457A>C	ENST00000257287.4	+	7	841	c.717A>C	c.(715-717)cgA>cgC	p.R239R		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	239					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	p.R239R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					TAAGAGAACGAGAGATAGAAC	0.363000													7	61					0	0	0.307466	0	0
LOC645752	645752	broad.mit.edu	37	15	78211548	78211548	+	RNA	SNP	T	T	C			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	98d3effe-3109-4a06-a9f0-c152d576a1ff	g.chr15:78211548T>C	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							CCACCTGGGATTGGAGCTTTC	0.562000													5	91					0	0	0.217242	0	0
AGRN	375790	broad.mit.edu	37	1	984830	984830	+	Splice_Site	SNP	G	G	A			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	98d3effe-3109-4a06-a9f0-c152d576a1ff	g.chr1:984830G>A	ENST00000379370.2	+	25	4563	c.4514_splice	c.e25+1	p.V1505_splice		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1505	Laminin G-like 1.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	p.V1505M(1)		breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CCAGGCTGCCGTGTGAGTCCC	0.677000													6	19					0	0	0.248553	0	0
FERD3L	222894	broad.mit.edu	37	7	19184591	19184591	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	98d3effe-3109-4a06-a9f0-c152d576a1ff	g.chr7:19184591G>A	ENST00000275461.3	-	1	453	c.395C>T	c.(394-396)gCt>gTt	p.A132V	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	132	Helix-loop-helix motif.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.A132V(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						TTTCTCGTAAGCAAACGTGGG	0.582000													12	124					0	0	0.411799	0	0
TKTL1	8277	broad.mit.edu	37	X	153553709	153553709	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	98d3effe-3109-4a06-a9f0-c152d576a1ff	g.chrX:153553709C>T	ENST00000369915.3	+	10	1531	c.1342C>T	c.(1342-1344)Cga>Tga	p.R448*	TKTL1_ENST00000369912.2_Nonsense_Mutation_p.R392*|TKTL1_ENST00000217905.7_Nonsense_Mutation_p.R188*	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	448					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity	p.R448*(1)		NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCGGACCACCCGACCAGAAAC	0.468000													21	84					0	0	0.624587	0	0
AHNAK	79026	broad.mit.edu	37	11	62298187	62298187	+	Silent	SNP	G	G	C			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	98d3effe-3109-4a06-a9f0-c152d576a1ff	g.chr11:62298187G>C	ENST00000378024.4	-	5	3976	c.3702C>G	c.(3700-3702)ccC>ccG	p.P1234P	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1234					nervous system development	nucleus	protein binding	p.P1234P(2)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGTCCATTTTGGGTCCTTTGA	0.483000													64	297					0	0	0.870114	0	0
TTLL12	23170	broad.mit.edu	37	22	43564118	43564118	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	98d3effe-3109-4a06-a9f0-c152d576a1ff	g.chr22:43564118C>T	ENST00000216129.6	-	14	1894	c.1831G>A	c.(1831-1833)Gac>Aac	p.D611N	TTLL12_ENST00000494035.1_5'UTR	NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	611	TTL.				protein modification process		tubulin-tyrosine ligase activity	p.D611N(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				CGCTCACAGTCGGGGTTGAAG	0.597000													19	49					0	0	0.575678	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	98d3effe-3109-4a06-a9f0-c152d576a1ff	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					3	44					0	0	0.150653	0	0
RBP3	5949	broad.mit.edu	37	10	48389514	48389514	+	Missense_Mutation	SNP	A	A	G			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	98d3effe-3109-4a06-a9f0-c152d576a1ff	g.chr10:48389514A>G	ENST00000224600.4	-	1	1477	c.1364T>C	c.(1363-1365)gTg>gCg	p.V455A		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	455	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	p.V455A(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TGGGGCCAACACACCCAGGAC	0.622000													6	30					0	0	0.278610	0	0
MANEAL	149175	broad.mit.edu	37	1	38260316	38260316	+	Silent	SNP	C	C	G			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	98d3effe-3109-4a06-a9f0-c152d576a1ff	g.chr1:38260316C>G	ENST00000373045.6	+	1	843	c.462C>G	c.(460-462)tcC>tcG	p.S154S	MANEAL_ENST00000397631.3_Silent_p.S154S	NM_001113482.1	NP_001106954.1	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like	154						Golgi membrane|integral to membrane	hydrolase activity	p.S154S(1)		endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ACTTGGGCTCCAGCTTCTACC	0.677000													3	20					0	0	0.115264	0	0
C9orf3	84909	broad.mit.edu	37	9	97522766	97522766	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	98d3effe-3109-4a06-a9f0-c152d576a1ff	g.chr9:97522766C>T	ENST00000375315.2	+	1	701	c.701C>T	c.(700-702)gCt>gTt	p.A234V	C9orf3_ENST00000277198.2_Missense_Mutation_p.A234V|C9orf3_ENST00000297979.5_Missense_Mutation_p.A234V	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	234					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.A234V(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		AAGACAGGGGCTCAGACAGCT	0.517000													7	18					0	0	0.248553	0	0
SLC9A5	6553	broad.mit.edu	37	16	67298944	67298944	+	Splice_Site	SNP	A	A	C			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	98d3effe-3109-4a06-a9f0-c152d576a1ff	g.chr16:67298944A>C	ENST00000299798.11	+	14	2080	c.2013_splice	c.e14-1	p.K672_splice		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	672					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	p.K672T(1)		breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		GGTCCTCAGAAGGATGGTGTG	0.562000													6	56					0	0	0.217242	0	0
SKIV2L2	23517	broad.mit.edu	37	5	54701406	54701406	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	98d3effe-3109-4a06-a9f0-c152d576a1ff	g.chr5:54701406G>T	ENST00000230640.5	+	22	2889	c.2635G>T	c.(2635-2637)Gag>Tag	p.E879*	SKIV2L2_ENST00000545714.1_Nonsense_Mutation_p.E778*	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	879					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.E879*(1)		NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				AGTGGCTTGTGAGATAAGCAG	0.318000													19	94					1.2644e-06	1.39988e-06	0.592651	1	0
FOLH1	2346	broad.mit.edu	37	11	49178267	49178267	+	Splice_Site	SNP	A	A	G			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	98d3effe-3109-4a06-a9f0-c152d576a1ff	g.chr11:49178267A>G	ENST00000340334.7	-	16	1947		c.e16+1		FOLH1_ENST00000343844.4_Splice_Site|FOLH1_ENST00000356696.3_Splice_Site|FOLH1_ENST00000256999.2_Splice_Site|FOLH1_ENST00000533034.1_Splice_Site	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1						proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	p.?(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	AGATTCACTTACCCAATTTTT	0.328000													26	144					0	0	0.740014	0	0
MAN2A1	4124	broad.mit.edu	37	5	109091091	109091091	+	Missense_Mutation	SNP	A	A	G			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	98d3effe-3109-4a06-a9f0-c152d576a1ff	g.chr5:109091091A>G	ENST00000261483.4	+	5	1821	c.769A>G	c.(769-771)Act>Gct	p.T257A		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	257					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	p.T257A(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		TGATGAAGCTACTCCACATTA	0.328000													16	90					0	0	0.557998	0	0
PI4KA	5297	broad.mit.edu	37	22	21083678	21083678	+	Silent	SNP	C	C	G			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	98d3effe-3109-4a06-a9f0-c152d576a1ff	g.chr22:21083678C>G	ENST00000255882.6	-	39	4691	c.4605G>C	c.(4603-4605)ctG>ctC	p.L1535L	PI4KA_ENST00000414196.3_Silent_p.L287L|PI4KA_ENST00000572273.1_Silent_p.L1477L	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1477					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	p.L1477L(2)		breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GCTTCTCACTCAGGCTGATGT	0.607000													2	10					0	0	0.115264	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971077	21971077	+	Missense_Mutation	SNP	A	A	G			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	98d3effe-3109-4a06-a9f0-c152d576a1ff	g.chr9:21971077A>G	ENST00000304494.5	-	2	551	c.281T>C	c.(280-282)cTg>cCg	p.L94P	CDKN2A_ENST00000578845.2_Missense_Mutation_p.L43P|CDKN2A_ENST00000361570.3_Silent_p.A149A|CDKN2A_ENST00000446177.1_Missense_Mutation_p.L94P|CDKN2A_ENST00000479692.2_Missense_Mutation_p.L43P|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000497750.1_Missense_Mutation_p.L43P|CDKN2A_ENST00000498628.2_Missense_Mutation_p.L43P|CDKN2A_ENST00000494262.1_Missense_Mutation_p.L43P|CDKN2A_ENST00000498124.1_Missense_Mutation_p.L94P|CDKN2A_ENST00000530628.2_Silent_p.A108A|CDKN2A_ENST00000579755.1_Silent_p.A108A|CDKN2A_ENST00000579122.1_Missense_Mutation_p.L94P	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	94			L -> Q (in CMM2).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.L94P(2)|p.H83fs*2(2)|p.E61_L94del(1)|p.0(1)|p.L94fs*52(1)|p.T93_D105del(1)|p.G150fs*25(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.A149A(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGCACCACCAGCGTGTCCAG	0.741000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			4	15					0	0	0.217242	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144918885	144918885	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	98d3effe-3109-4a06-a9f0-c152d576a1ff	g.chr1:144918885T>C	ENST00000529945.1	-	6	2229	c.1790A>G	c.(1789-1791)cAa>cGa	p.Q597R	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.Q571R|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.Q500R|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.Q434R|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.Q434R|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.Q434R|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.Q434R|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.Q221R|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.Q597R|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.Q571R			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	434					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	p.Q434R(2)|p.Q597R(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTGGATGTTTTGTTCCTGGGT	0.438000			T	PDGFRB	MPD								168	587					0	0	0.870114	0	0
INADL	10207	broad.mit.edu	37	1	62455859	62455859	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	98d3effe-3109-4a06-a9f0-c152d576a1ff	g.chr1:62455859T>A	ENST00000371158.2	+	28	3804	c.3690T>A	c.(3688-3690)taT>taA	p.Y1230*	INADL_ENST00000316485.6_Nonsense_Mutation_p.Y1230*|INADL_ENST00000545929.1_5'UTR|INADL_ENST00000543708.1_Nonsense_Mutation_p.Y14*	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1230					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	p.Y1230*(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GACAAAGATATGCAGATCTGC	0.353000													17	28					0	0	0.520397	0	0
CUX1	1523	broad.mit.edu	37	7	101801866	101801866	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	98d3effe-3109-4a06-a9f0-c152d576a1ff	g.chr7:101801866C>T	ENST00000360264.3	+	9	754	c.734C>T	c.(733-735)aCg>aTg	p.T245M	CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000437600.4_Missense_Mutation_p.T245M|CUX1_ENST00000292535.7_Missense_Mutation_p.T234M|CUX1_ENST00000292538.4_Missense_Mutation_p.T245M|CUX1_ENST00000425244.2_Missense_Mutation_p.T199M|CUX1_ENST00000556210.1_Missense_Mutation_p.T234M|CUX1_ENST00000550008.2_Missense_Mutation_p.T234M|CUX1_ENST00000549414.2_Missense_Mutation_p.T234M|CUX1_ENST00000547394.2_Missense_Mutation_p.T229M|CUX1_ENST00000546411.2_Missense_Mutation_p.T234M|CUX1_ENST00000393824.3_Missense_Mutation_p.T208M	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	234					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.T245M(1)|p.T234M(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						ATGATCATGACGGACCTTGAA	0.562000													3	54					0	0	0.150653	0	0
AGO1	26523	broad.mit.edu	37	1	36383924	36383924	+	Splice_Site	SNP	T	T	C			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	98d3effe-3109-4a06-a9f0-c152d576a1ff	g.chr1:36383924T>C	ENST00000373204.4	+	17	2378	c.2163_splice	c.e17-1	p.I722_splice	AGO1_ENST00000373206.1_Splice_Site_p.I647_splice	NM_012199.2	NP_036331.1			argonaute RISC catalytic component 1									p.I722T(1)									TCTATACAGATTGGGAAGAGT	0.502000													39	175					0	0	0.827153	0	0
BRPF1	7862	broad.mit.edu	37	3	9780966	9780966	+	Missense_Mutation	SNP	A	A	G			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	98d3effe-3109-4a06-a9f0-c152d576a1ff	g.chr3:9780966A>G	ENST00000383829.2	+	3	1287	c.883A>G	c.(883-885)Atg>Gtg	p.M295V	BRPF1_ENST00000433861.2_Missense_Mutation_p.M295V|BRPF1_ENST00000457855.1_Missense_Mutation_p.M295V|BRPF1_ENST00000424362.1_Missense_Mutation_p.M295V|BRPF1_ENST00000302054.3_Missense_Mutation_p.M295V	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	295					histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding	p.M295V(1)		central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					CTTCTGTGACATGTGCAACCT	0.557000													10	30					0	0	0.387290	0	0
SAGE1	55511	broad.mit.edu	37	X	134987534	134987534	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	98d3effe-3109-4a06-a9f0-c152d576a1ff	g.chrX:134987534T>C	ENST00000535938.1	+	5	604	c.437T>C	c.(436-438)aTg>aCg	p.M146T	SAGE1_ENST00000537770.1_Missense_Mutation_p.M146T|SAGE1_ENST00000324447.3_Missense_Mutation_p.M146T|SAGE1_ENST00000370709.3_Missense_Mutation_p.M146T	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	146								p.M146T(1)		breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					ATTCCATCCATGAGTACCAGG	0.423000													6	109					0	0	0.217242	0	0
METTL1	4234	broad.mit.edu	37	12	58165040	58165040	+	Splice_Site	SNP	G	G	A			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	98d3effe-3109-4a06-a9f0-c152d576a1ff	g.chr12:58165040G>A	ENST00000324871.7	-	2	820	c.110_splice	c.e2-1	p.Y37_splice	METTL1_ENST00000548681.1_5'UTR|METTL1_ENST00000257848.7_Splice_Site_p.Y37_splice	NM_005371.5	NP_005362.3	Q9UBP6	TRMB_HUMAN	methyltransferase like 1	37						cytoplasm|nucleus	protein binding|tRNA (guanine-N7-)-methyltransferase activity|tRNA binding	p.Y37Y(1)		large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4	all_cancers(7;6.73e-81)|Lung NSC(6;1.07e-25)|all_lung(6;8.25e-24)|all_epithelial(6;4.6e-17)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.211)			GCTTCACAGGGCTATTGGAAA	0.493000													3	19					0	0	0.115264	0	0
METAP1	23173	broad.mit.edu	37	4	99982307	99982307	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	98d3effe-3109-4a06-a9f0-c152d576a1ff	g.chr4:99982307G>A	ENST00000296411.6	+	11	1134	c.1000G>A	c.(1000-1002)Gga>Aga	p.G334R	METAP1_ENST00000544031.1_Missense_Mutation_p.G284R	NM_015143.2	NP_055958.2	P53582	AMPM1_HUMAN	methionyl aminopeptidase 1	334					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis|regulation of translation	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity|protein binding	p.G334R(2)		endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(123;3.12e-07)		TGTTGAAGGCGGATGGCAGGA	0.443000													19	105					0	0	0.575678	0	0
SLC24A2	25769	broad.mit.edu	37	9	19786259	19786259	+	Silent	SNP	G	G	A	rs147285634	by1000genomes	TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	98d3effe-3109-4a06-a9f0-c152d576a1ff	g.chr9:19786259G>A	ENST00000341998.2	-	1	667	c.606C>T	c.(604-606)aaC>aaT	p.N202N	SLC24A2_ENST00000286344.3_Silent_p.N202N	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	202					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	p.N202N(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		CTATGCCAACGTTGCTGTGAG	0.463000													20	55					0	0	0.624587	0	0
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	98d3effe-3109-4a06-a9f0-c152d576a1ff	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378000	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			14	34					0	0	0.479597	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	98d3effe-3109-4a06-a9f0-c152d576a1ff	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					3	44					0	0	0.150653	0	0
CDC42EP2	10435	broad.mit.edu	37	11	65088480	65088480	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	98d3effe-3109-4a06-a9f0-c152d576a1ff	g.chr11:65088480C>A	ENST00000544348.1	+	2	717	c.111C>A	c.(109-111)ttC>ttA	p.F37L	CDC42EP2_ENST00000533419.1_Missense_Mutation_p.F37L|CDC42EP2_ENST00000279249.2_Missense_Mutation_p.F37L			O14613	BORG1_HUMAN	CDC42 effector protein (Rho GTPase binding) 2	37	CRIB.				actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape	cytoplasm|cytoskeleton|endomembrane system|plasma membrane	GTP-Rho binding|Rho GTPase activator activity	p.F37L(1)		lung(1)	1						TGGGGGACTTCCGCCACACCA	0.607000													15	53					1.02788e-11	1.18016e-11	0.520397	1	0
FCGR3A	2214	broad.mit.edu	37	1	161512867	161512867	+	Nonsense_Mutation	SNP	G	G	A	rs1042207	byFrequency	TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	98d3effe-3109-4a06-a9f0-c152d576a1ff	g.chr1:161512867G>A	ENST00000367969.3	-	5	991	c.808C>T	c.(808-810)Cga>Tga	p.R270*	FCGR3A_ENST00000540048.1_Nonsense_Mutation_p.R234*|FCGR3A_ENST00000443193.1_Nonsense_Mutation_p.R269*|FCGR3A_ENST00000436743.1_Nonsense_Mutation_p.R234*	NM_000569.6	NP_000560.5	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	234					immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity	p.R270*(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GTTGAGCTTCGAATGTTTGTC	0.443000													5	168					0	0	0.184627	0	0
TLR6	10333	broad.mit.edu	37	4	38830532	38830532	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	98d3effe-3109-4a06-a9f0-c152d576a1ff	g.chr4:38830532G>A	ENST00000436693.2	-	2	682	c.563C>T	c.(562-564)aCa>aTa	p.T188I	TLR6_ENST00000381950.1_Missense_Mutation_p.T188I	NM_006068.4	NP_006059.2	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	188					activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity	p.T188I(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TAGACTTTCTGTCTCATTTTC	0.328000													8	35					0	0	0.307466	0	0
IRF3	3661	broad.mit.edu	37	19	50167985	50167985	+	Silent	SNP	A	A	G			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	98d3effe-3109-4a06-a9f0-c152d576a1ff	g.chr19:50167985A>G	ENST00000597198.1	-	2	492	c.111T>C	c.(109-111)ccT>ccC	p.P37P	IRF3_ENST00000377135.4_Silent_p.P37P|IRF3_ENST00000596822.1_Intron|IRF3_ENST00000599223.1_Silent_p.P37P|IRF3_ENST00000600911.1_Silent_p.P37P|IRF3_ENST00000596765.1_Intron|IRF3_ENST00000593922.1_Intron|IRF3_ENST00000599144.1_Intron|IRF3_ENST00000601291.1_Silent_p.P37P|IRF3_ENST00000598808.1_Intron|IRF3_ENST00000377139.3_Silent_p.P37P|IRF3_ENST00000442265.2_Silent_p.P37P|IRF3_ENST00000309877.7_Silent_p.P37P|IRF3_ENST00000600022.1_Intron			Q14653	IRF3_HUMAN	interferon regulatory factor 3	37					interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	p.P37P(1)		breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		CGTGCTTCCAAGGGATGCGGA	0.657000													25	87					0	0	0.740014	0	0
EPHA3	2042	broad.mit.edu	37	3	89462377	89462377	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	98d3effe-3109-4a06-a9f0-c152d576a1ff	g.chr3:89462377G>T	ENST00000336596.2	+	10	2074	c.1849G>T	c.(1849-1851)Gat>Tat	p.D617Y	EPHA3_ENST00000494014.1_Missense_Mutation_p.D617Y	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	617						extracellular region|integral to plasma membrane	ATP binding	p.D617Y(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CAAGGAATTGGATGCCACCAA	0.433000										TSP Lung(6;0.00050)			21	62					2.37509e-13	2.77841e-13	0.592651	1	0
CABLES1	91768	broad.mit.edu	37	18	20814573	20814573	+	Splice_Site	SNP	G	G	A			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	98d3effe-3109-4a06-a9f0-c152d576a1ff	g.chr18:20814573G>A	ENST00000256925.7	+	5	1090	c.1088_splice	c.e5-1	p.D364_splice	CABLES1_ENST00000420687.2_Splice_Site_p.D99_splice|CABLES1_ENST00000585061.1_Intron|TMEM241_ENST00000450466.2_Intron|CABLES1_ENST00000400473.2_Splice_Site_p.D37_splice	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	364	Interacts with CDK3 (By similarity).				blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding	p.D364N(1)		breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TCCTCCCAGGGACTTGAAGTT	0.478000													7	9					0	0	0.307466	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44806175	44806175	+	Silent	SNP	G	G	A			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	98d3effe-3109-4a06-a9f0-c152d576a1ff	g.chr7:44806175G>A	ENST00000309315.4	+	18	2691	c.2568G>A	c.(2566-2568)acG>acA	p.T856T	ZMIZ2_ENST00000441627.1_Silent_p.T856T|ZMIZ2_ENST00000433667.1_Silent_p.T824T|ZMIZ2_ENST00000413916.1_Silent_p.T798T|ZMIZ2_ENST00000265346.7_Silent_p.T830T|ZMIZ2_ENST00000463931.1_3'UTR	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	856	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	p.T856T(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TAGGACCTACGGGTGAACTGG	0.662000													23	63					0	0	0.654019	0	0
WBP2NL	164684	broad.mit.edu	37	22	42415801	42415801	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	98d3effe-3109-4a06-a9f0-c152d576a1ff	g.chr22:42415801C>T	ENST00000328823.9	+	3	338	c.307C>T	c.(307-309)Cca>Tca	p.P103S	WBP2NL_ENST00000543212.1_Missense_Mutation_p.P29S	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	103					egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding	p.P103S(1)		breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						TCAGGCAGCTCCATATGGTAA	0.363000													30	74					0	0	0.740014	0	0
LAMB1	3912	broad.mit.edu	37	7	107626714	107626714	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	98d3effe-3109-4a06-a9f0-c152d576a1ff	g.chr7:107626714G>A	ENST00000393561.1	-	4	774	c.590C>T	c.(589-591)tCg>tTg	p.S197L	LAMB1_ENST00000393560.1_Missense_Mutation_p.S173L|LAMB1_ENST00000222399.6_Missense_Mutation_p.S173L			P07942	LAMB1_HUMAN	laminin, beta 1	173	Laminin N-terminal.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	p.S173L(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCCTGGAAACGAGGCCTCACA	0.453000													6	106					0	0	0.278610	0	0
ATP8B4	79895	broad.mit.edu	37	15	50211114	50211114	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	98d3effe-3109-4a06-a9f0-c152d576a1ff	g.chr15:50211114G>A	ENST00000284509.6	-	19	2098	c.1957C>T	c.(1957-1959)Cag>Tag	p.Q653*	ATP8B4_ENST00000559829.1_Nonsense_Mutation_p.Q653*	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	653					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.Q653*(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		ACACCCTCCTGTAACTTATCT	0.343000													20	95					0	0	0.624587	0	0
GRM5	2915	broad.mit.edu	37	11	88780796	88780796	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	98d3effe-3109-4a06-a9f0-c152d576a1ff	g.chr11:88780796T>C	ENST00000418177.2	-	2	612	c.245A>G	c.(244-246)gAc>gGc	p.D82G	GRM5_ENST00000305447.4_Missense_Mutation_p.D82G|GRM5_ENST00000393297.1_Missense_Mutation_p.D82G|GRM5_ENST00000393294.3_Missense_Mutation_p.D82G|GRM5_ENST00000455756.2_Missense_Mutation_p.D82G|GRM5_ENST00000305432.5_Missense_Mutation_p.D82G			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	82					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.D82G(2)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	GAGTGTGGGGTCTGAATTGAT	0.527000													13	16					0	0	0.500413	0	0
TP53	7157	broad.mit.edu	37	17	7573967	7573967	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	98d3effe-3109-4a06-a9f0-c152d576a1ff	g.chr17:7573967G>A	ENST00000269305.4	-	10	1249	c.1060C>T	c.(1060-1062)Cag>Tag	p.Q354*	TP53_ENST00000455263.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q354*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	354	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		Q -> E (in a sporadic cancer; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.Q354*(2)|p.I332fs*5(1)|p.Q354K(1)|p.?(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTCCCAGCCTGGGCATCCTTG	0.597000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			4	18					0	0	0.184627	0	0
CAMK2D	817	broad.mit.edu	37	4	114530323	114530323	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	98d3effe-3109-4a06-a9f0-c152d576a1ff	g.chr4:114530323T>C	ENST00000454265.2	-	4	1118	c.260A>G	c.(259-261)tAc>tGc	p.Y87C	CAMK2D_ENST00000508738.1_Missense_Mutation_p.Y87C|CAMK2D_ENST00000429180.1_Missense_Mutation_p.Y87C|CAMK2D_ENST00000511664.1_Missense_Mutation_p.Y87C|CAMK2D_ENST00000505990.1_Missense_Mutation_p.Y87C|CAMK2D_ENST00000296402.5_Missense_Mutation_p.Y87C|CAMK2D_ENST00000342666.5_Missense_Mutation_p.Y87C|CAMK2D_ENST00000514328.1_Missense_Mutation_p.Y87C|CAMK2D_ENST00000379773.2_Missense_Mutation_p.Y87C|CAMK2D_ENST00000418639.2_Missense_Mutation_p.Y87C|CAMK2D_ENST00000394526.2_Missense_Mutation_p.Y87C|CAMK2D_ENST00000515496.1_Missense_Mutation_p.Y87C|CAMK2D_ENST00000394522.3_Missense_Mutation_p.Y87C|CAMK2D_ENST00000394524.3_Missense_Mutation_p.Y87C			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	87	Protein kinase.				interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	p.Y87C(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		AAACACCAAGTAGTGAAAGCC	0.323000													23	34					0	0	0.706142	0	0
SCN5A	6331	broad.mit.edu	37	3	38592973	38592973	+	Silent	SNP	T	T	A			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	98d3effe-3109-4a06-a9f0-c152d576a1ff	g.chr3:38592973T>A	ENST00000413689.1	-	28	5083	c.4890A>T	c.(4888-4890)atA>atT	p.I1630I	SCN5A_ENST00000425664.1_Silent_p.I1612I|SCN5A_ENST00000443581.1_Silent_p.I1629I|SCN5A_ENST00000451551.2_Silent_p.I1576I|SCN5A_ENST00000423572.2_Silent_p.I1629I|SCN5A_ENST00000449557.2_Silent_p.I1576I|SCN5A_ENST00000450102.2_Silent_p.I1576I|SCN5A_ENST00000333535.4_Silent_p.I1630I|SCN5A_ENST00000414099.2_Silent_p.I1612I|SCN5A_ENST00000455624.2_Silent_p.I1597I	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1630					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	p.I1630I(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GGATGCGGCCTATTCGGGCCA	0.597000													18	60					0	0	0.592651	0	0
UBQLN1	29979	broad.mit.edu	37	9	86276788	86276788	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	98d3effe-3109-4a06-a9f0-c152d576a1ff	g.chr9:86276788G>T	ENST00000376395.4	-	11	2207	c.1684C>A	c.(1684-1686)Cgt>Agt	p.R562S	UBQLN1_ENST00000257468.7_Missense_Mutation_p.R534S	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	562	UBA.				apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding	p.R562S(1)		breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						TTTGCTTCACGGTTCAAAAAT	0.388000													4	82					0.150653	0.158314	0.150653	1	0
CIB3	117286	broad.mit.edu	37	19	16284278	16284278	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	98d3effe-3109-4a06-a9f0-c152d576a1ff	g.chr19:16284278G>T	ENST00000269878.4	-	1	58	c.9C>A	c.(7-9)aaC>aaA	p.N3K	CIB3_ENST00000541493.1_5'UTR|CIB3_ENST00000379859.3_Missense_Mutation_p.N3K	NM_054113.2	NP_473454.1	Q96Q77	CIB3_HUMAN	calcium and integrin binding family member 3	3							calcium ion binding	p.N3K(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						CTGTCTGCTTGTTGCCCATGG	0.592000													19	52					1.28384e-07	1.44724e-07	0.608945	1	0
HAX1	10456	broad.mit.edu	37	1	154245864	154245866	+	In_Frame_Del	DEL	GAA	GAA	-	rs11556342		TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr1:154245864_154245866delGAA	ENST00000328703.7	+	2	319_321	c.106_108delGAA	c.(106-108)del	p.E40del	HAX1_ENST00000532105.1_Intron|HAX1_ENST00000457918.2_Intron|HAX1_ENST00000483970.2_In_Frame_Del_p.E40del	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	40	Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity).					actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGATGATGAGGAAGAAGAAGAAG	0.522									Kostmann syndrome				7	82	---	---	---	---					
H3F3AP4	440926	broad.mit.edu	37	2	175585079	175585079	+	RNA	DEL	A	A	-			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr2:175585079delA	ENST00000442996.1	+	0	217																											TTTCATTCTCAAAAAAAAAAA	0.368											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	3	---	---	---	---					
PTPN23	25930	broad.mit.edu	37	3	47452143	47452144	+	In_Frame_Ins	INS	-	-	GCCCCA			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr3:47452143_47452144insGCCCCA	ENST00000265562.4	+	20	2932_2933	c.2855_2856insGCCCCA	c.(2854-2856)gcc>gGCCCCAcc	p.952_952A>GPT	PTPN23_ENST00000431726.1_In_Frame_Ins_p.826_826A>GPT	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	952	His.|Pro-rich.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCAAGGATTGGgccccagcccc	0.634													5	6	---	---	---	---					
RP11-1166P10.6	0	broad.mit.edu	37	16	32077916	32077917	+	RNA	INS	-	-	TTT	rs139112308	by1000genomes	TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr16:32077916_32077917insTTT	ENST00000566806.1	-	0	499																											ATGGAAAACGGTTATTTTTTTG	0.421													3	4	---	---	---	---					
CYP4F2	8529	broad.mit.edu	37	19	15996864	15996865	+	Splice_Site	INS	-	-	T			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr19:15996864_15996865insT	ENST00000221700.5	-	9	1081		c.e9-1		CYP4F2_ENST00000592328.1_Splice_Site|CYP4F2_ENST00000011989.7_Splice_Site	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2						leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GTGTCATGGCCTGGGGGGCAGC	0.629													19	66	---	---	---	---					
BHLHB9	80823	broad.mit.edu	37	X	102004419	102004421	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chrX:102004419_102004421delGAG	ENST00000372735.1	+	4	1081_1083	c.496_498delGAG	c.(496-498)del	p.E171del	BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	171	Poly-Glu.					cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GTCAGGGGCTGAGGAGGAGGAGG	0.488													8	195	---	---	---	---					
CHEK1	1111	broad.mit.edu	37	11	125505377	125505378	+	Frame_Shift_Ins	INS	-	-	A	rs35817404		TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	98d3effe-3109-4a06-a9f0-c152d576a1ff	g.chr11:125505377_125505378insA	ENST00000534070.1	+	7	922_923	c.667_668insA	c.(667-669)aaafs	p.K223fs	CHEK1_ENST00000278916.3_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000524737.1_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000428830.2_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000438015.1_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000427383.2_Frame_Shift_Ins_p.K239fs|CHEK1_ENST00000544373.1_Frame_Shift_Ins_p.K223fs	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	223	Protein kinase.		E -> V (in dbSNP:rs35817404).		cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		TGACTGGAAAGAAAAAAAAACA	0.361								Other conserved DNA damage response genes					8	196	---	---	---	---					
NPIPB1P	729602	broad.mit.edu	37	18	11625378	11625379	+	RNA	INS	-	-	A	rs141097667		TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	98d3effe-3109-4a06-a9f0-c152d576a1ff	g.chr18:11625378_11625379insA	ENST00000547442.1	-	0	621																											CTCTTCCCCCGAAAAATGACAA	0.401													2	4	---	---	---	---					
CYP4F2	8529	broad.mit.edu	37	19	15996864	15996865	+	Splice_Site	INS	-	-	T			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	98d3effe-3109-4a06-a9f0-c152d576a1ff	g.chr19:15996864_15996865insT	ENST00000221700.5	-	9	1081		c.e9-1		CYP4F2_ENST00000011989.7_Splice_Site|CYP4F2_ENST00000592328.1_Splice_Site	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2						leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GTGTCATGGCCTGGGGGGCAGC	0.629													19	66	---	---	---	---					
KIZ-AS1	101929591	broad.mit.edu	37	20	21142454	21142455	+	RNA	INS	-	-	C	rs45603533	by1000genomes	TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac33765-0c88-4a51-8389-c042ccb78c83	98d3effe-3109-4a06-a9f0-c152d576a1ff	g.chr20:21142454_21142455insC	ENST00000591761.1	-	0	5142				PLK1S1_ENST00000457464.1_RNA|RP5-872K7.7_ENST00000425746.2_RNA																							AAAAAAAAAAACCCCACCTAAT	0.376													6	9	---	---	---	---					
