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	ACHILLES_Top_Genes	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_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
AGRN	375790	broad.mit.edu	37	1	984830	984830	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr1:984830G>A	uc001ack.1	+	25	4563	c.4513G>A	c.(4513-4515)GTG>ATG	p.V1505M		NM_198576	NP_940978	O00468	AGRIN_HUMAN	agrin precursor	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			central_nervous_system(2)|breast(1)	3	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	0.677			NA											6	19					0	0	0.02938	0	0
EIF2C1	26523	broad.mit.edu	37	1	36383924	36383924	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr1:36383924T>C	uc001bzl.2	+	17	2378	c.2165T>C	c.(2164-2166)ATT>ACT	p.I722T	EIF2C1_uc001bzk.2_Missense_Mutation_p.I647T|EIF2C1_uc009vuy.2_RNA	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	eukaryotic translation initiation factor 2C, 1	722	Piwi.				negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	protein binding|RNA binding			ovary(2)|skin(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TCTATACAGATTGGGAAGAGT	0.502			NA											39	175					0	0	0.092188	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	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr1:38260316C>G	uc001cby.2	+	1	543	c.462C>G	c.(460-462)TCC>TCG	p.S154S	MANEAL_uc001cbx.2_Silent_p.S154S|MANEAL_uc001cbz.2_5'Flank	NM_001113482	NP_001106954	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like isoform 3	154	Lumenal (Potential).					Golgi membrane|integral to membrane	hydrolase activity				0	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ACTTGGGCTCCAGCTTCTACC	0.677			NA											3	20					0	0	0.115264	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	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr1:62455859T>A	uc001dab.2	+	28	3804	c.3690T>A	c.(3688-3690)TAT>TAA	p.Y1230*	INADL_uc009waf.1_Nonsense_Mutation_p.Y1230*|INADL_uc001daa.2_Nonsense_Mutation_p.Y1230*|INADL_uc001dad.3_Nonsense_Mutation_p.Y927*|INADL_uc001dac.2_RNA|INADL_uc010oot.1_Nonsense_Mutation_p.Y14*|INADL_uc009wag.2_Nonsense_Mutation_p.Y14*|INADL_uc010oou.1_5'UTR	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like	1230					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)|skin(1)	4						GACAAAGATATGCAGATCTGC	0.343			NA											17	28					0	0	0.0333	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	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr1:144918885T>C	uc001elw.3	-	10	1592	c.1301A>G	c.(1300-1302)CAA>CGA	p.Q434R	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.Q500R|PDE4DIP_uc001emc.1_Missense_Mutation_p.Q434R|PDE4DIP_uc001emd.1_Missense_Mutation_p.Q434R|PDE4DIP_uc001emb.1_Missense_Mutation_p.Q597R|PDE4DIP_uc001eme.1_5'UTR|PDE4DIP_uc001emf.1_Missense_Mutation_p.Q221R	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	434	Potential.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTGGATGTTTTGTTCCTGGGT	0.438			NA	T	PDGFRB	MPD								168	587					0	0	0.139131	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	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr10:48389514A>G	uc001jez.2	-	1	1478	c.1364T>C	c.(1363-1365)GTG>GCG	p.V455A		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	455	4 X approximate tandem repeats.|2.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			large_intestine(1)|central_nervous_system(1)	2					Vitamin A(DB00162)	TGGGGCCAACACACCCAGGAC	0.622			NA											6	30					0	0	0.038147	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	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr11:49178267A>G	uc001ngy.2	-	15	1884	c.1623_splice	c.e15+1	p.W541_splice	FOLH1_uc001ngx.2_5'Flank|FOLH1_uc001ngz.2_Splice_Site_p.W541_splice|FOLH1_uc009yly.2_Splice_Site_p.W526_splice|FOLH1_uc009ylz.2_Splice_Site_p.W526_splice|FOLH1_uc009yma.2_Splice_Site_p.W233_splice	NM_004476	NP_004467	Q04609	FOLH1_HUMAN	folate hydrolase 1 isoform 1						proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			large_intestine(1)|ovary(1)|skin(1)	3					Capromab(DB00089)|L-Glutamic Acid(DB00142)	AGATTCACTTACCCAATTTTT	0.328			NA											26	144					0	0	0.144211	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	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr11:62298187G>C	uc001ntl.2	-	5	4002	c.3702C>G	c.(3700-3702)CCC>CCG	p.P1234P	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	1234					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				TGTCCATTTTGGGTCCTTTGA	0.483			NA											64	297					0	0	0.139131	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	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr11:65088480C>A	uc001odl.2	+	2	561	c.111C>A	c.(109-111)TTC>TTA	p.F37L		NM_006779	NP_006770	O14613	BORG1_HUMAN	Cdc42 effector protein 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				0						TGGGGGACTTCCGCCACACCA	0.607			NA											15	53					1.02788e-11	1.16364e-11	0.0333	1	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	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr11:88780796T>C	uc001pcq.2	-	1	445	c.245A>G	c.(244-246)GAC>GGC	p.D82G	GRM5_uc009yvm.2_Missense_Mutation_p.D82G|GRM5_uc009yvn.1_Missense_Mutation_p.D82G	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	82	Extracellular (Potential).				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			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	GAGTGTGGGGTCTGAATTGAT	0.527			NA											13	16					0	0	0.146539	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	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr15:50211114G>A	uc001zxu.2	-	19	2099	c.1957C>T	c.(1957-1959)CAG>TAG	p.Q653*	ATP8B4_uc010ber.2_Nonsense_Mutation_p.Q526*|ATP8B4_uc010ufd.1_Nonsense_Mutation_p.Q463*|ATP8B4_uc010ufe.1_RNA	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	ATPase class I type 8B member 4	653	Cytoplasmic (Potential).				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			skin(3)|ovary(2)|breast(2)|large_intestine(1)	8		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		ACACCCTCCTGTAACTTATCT	0.343			NA											20	95					0	0	0.069288	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858195	9858195	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr16:9858195G>A	uc002czo.3	-	13	3754	c.3206C>T	c.(3205-3207)ACG>ATG	p.T1069M	GRIN2A_uc010uym.1_Missense_Mutation_p.T1069M|GRIN2A_uc010uyn.1_Missense_Mutation_p.T912M|GRIN2A_uc002czr.3_Missense_Mutation_p.T1069M	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	1069	Cytoplasmic (Potential).				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			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCTGTGGCACGTGGCCCGATT	0.502			NA											28	104					0	0	0.099896	0	0
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	Silent	SNP	G	G	A	rs150520281	by1000genomes	TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr16:21817457G>A	uc010vbl.1	-	7	603	c.106C>T	c.(106-108)CTG>TTG	p.L36L	uc002diq.3_Intron	NR_003370				SubName: Full=Putative uncharacterized protein ENSP00000219758;												0						CTTACATCCAGCTTGAGTAGT	0.254			NA											3	22					0	0	0.009096	0	0
SLC9A5	6553	broad.mit.edu	37	16	67298944	67298944	+	Missense_Mutation	SNP	A	A	C			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr16:67298944A>C	uc002esm.2	+	14	2078	c.2015A>C	c.(2014-2016)AAG>ACG	p.K672T	SLC9A5_uc010cee.2_Missense_Mutation_p.K377T|SLC9A5_uc010vji.1_Missense_Mutation_p.K176T	NM_004594	NP_004585	Q14940	SL9A5_HUMAN	solute carrier family 9 (sodium/hydrogen	672					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			ovary(1)|pancreas(1)	2		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		GGTCCTCAGAAGGATGGTGTG	0.562			NA											6	56					0	0	0.021553	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	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr17:7573967G>A	uc002gim.2	-	10	1254	c.1060C>T	c.(1060-1062)CAG>TAG	p.Q354*	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Intron|TP53_uc010cne.1_Intron|TP53_uc010cnf.1_3'UTR|TP53_uc010cng.1_3'UTR|TP53_uc002gii.1_Nonsense_Mutation_p.Q222*|TP53_uc010cnh.1_3'UTR|TP53_uc010cni.1_3'UTR|TP53_uc002gij.2_Nonsense_Mutation_p.Q354*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	354	Oligomerization.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Interaction with HIPK2.		Q -> R (in sporadic cancers; somatic mutation).|Q -> E (in a sporadic cancer; somatic mutation).|Q -> K (in a sporadic cancer; 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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(7)|p.Q354R(2)|p.I332fs*5(1)|p.Q354K(1)|p.?(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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	0.597	Pancreas(47;798 1329 9957 10801)		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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_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	0.014758	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274424	39274424	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr17:39274424G>C	uc002hvz.2	-	1	183	c.144C>G	c.(142-144)AGC>AGG	p.S48R		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	48	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].|5.		Missing (in allele KAP4.14).			keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCCTGCAGCAGCTGGACACAC	0.672			NA											3	33					0	0	0.115264	0	0
LOC653653	653653	broad.mit.edu	37	17	58179841	58179841	+	Silent	SNP	A	A	G			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr17:58179841A>G	uc010wot.1	-	1	440	c.324T>C	c.(322-324)TAT>TAC	p.Y108Y		NM_003916	NP_003907			adaptor-related protein complex 1 sigma 2												0						ACAGACTAGCATATCTTTTGT	0.373			NA											32	120					0	0	0.069456	0	0
POTEC	388468	broad.mit.edu	37	18	14543092	14543092	+	Silent	SNP	G	G	A	rs45502401		TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr18:14543092G>A	uc010dln.2	-	1	508	c.54C>T	c.(52-54)TTC>TTT	p.F18F	POTEC_uc010xaj.1_RNA	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	ANKRD26-like family B, member 2	18										skin(3)	3						TCCTGAGATCGAATGGCTTCT	0.572			NA											8	79					0	0	0.080935	0	0
CABLES1	91768	broad.mit.edu	37	18	20814573	20814573	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr18:20814573G>A	uc002kuc.2	+	5	1090	c.1090G>A	c.(1090-1092)GAC>AAC	p.D364N	C18orf45_uc010xaq.1_Intron|CABLES1_uc002kub.2_Intron|CABLES1_uc002kud.2_Missense_Mutation_p.D99N	NM_001100619	NP_001094089	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1 isoform 2	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			breast(1)	1	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	0.478			NA											7	9					0	0	0.047766	0	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	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr19:16284278G>T	uc002nds.2	-	1	9	c.9C>A	c.(7-9)AAC>AAA	p.N3K	CIB3_uc010eae.2_5'UTR|CIB3_uc010eaf.2_RNA|CIB3_uc010eag.2_Missense_Mutation_p.N3K	NM_054113	NP_473454	Q96Q77	CIB3_HUMAN	DNA-dependent protein kinase catalytic	3							calcium ion binding			ovary(1)	1						CTGTCTGCTTGTTGCCCATGG	0.592			NA											19	52					1.28384e-07	1.42649e-07	0.062417	1	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	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr19:50167985A>G	uc010end.1	-	2	493	c.111T>C	c.(109-111)CCT>CCC	p.P37P	IRF3_uc002pos.1_5'Flank|IRF3_uc002pot.1_Silent_p.P37P|IRF3_uc002pox.1_Silent_p.P37P|IRF3_uc002poy.1_Silent_p.P37P|IRF3_uc002pou.2_Silent_p.P37P|IRF3_uc002pov.2_Intron|IRF3_uc002pow.2_Silent_p.P37P|IRF3_uc002poz.1_Silent_p.P37P|IRF3_uc010ene.1_Silent_p.P37P|BCL2L12_uc002ppa.2_5'Flank|BCL2L12_uc002ppb.2_5'Flank	NM_001571	NP_001562	Q14653	IRF3_HUMAN	interferon regulatory factor 3	37	IRF tryptophan pentad repeat.				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			ovary(2)	2		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	0.657			NA											25	87					0	0	0.144211	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	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr20:29992817A>G	uc002wvv.1	-	2	166	c.130T>C	c.(130-132)TGC>CGC	p.C44R		NM_001011878	NP_001011878	Q5J5C9	DB121_HUMAN	defensin, beta 121 precursor	44					defense response to bacterium	extracellular region					0	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TCAGTTTTGCATAATATATAG	0.388			NA											18	84					0	0	0.0333	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	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr22:21083678C>G	uc002zsz.3	-	39	4662	c.4431G>C	c.(4429-4431)CTG>CTC	p.L1477L	PI4KA_uc002zsy.3_Silent_p.L287L	NM_058004	NP_477352	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase type 3 alpha	1477					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1)	4	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	0.607	GBM(136;1332 1831 3115 23601 50806)		NA											2	10					0	0	0.115264	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	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr22:42415801C>T	uc011ape.1	+	4	323	c.307C>T	c.(307-309)CCA>TCA	p.P103S	WBP2NL_uc003bbt.2_Missense_Mutation_p.P103S|WBP2NL_uc011apk.1_Intron|WBP2NL_uc003bbu.2_RNA|WBP2NL_uc003bbv.1_RNA	NM_152613	NP_689826	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	103					egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding			ovary(2)	2						TCAGGCAGCTCCATATGGTAA	0.363			NA											30	74					0	0	0.144211	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	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr22:43564118C>T	uc003bdq.2	-	14	1863	c.1831G>A	c.(1831-1833)GAC>AAC	p.D611N	TTLL12_uc003bdp.2_3'UTR|TTLL12_uc003bdr.1_Missense_Mutation_p.D611N	NM_015140	NP_055955	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	611	TTL.				protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)	1		Ovarian(80;0.221)|Glioma(61;0.222)				CGCTCACAGTCGGGGTTGAAG	0.597			NA											19	49					0	0	0.049695	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	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr3:9780966A>G	uc003bse.2	+	3	1282	c.883A>G	c.(883-885)ATG>GTG	p.M295V	BRPF1_uc003bsf.2_Missense_Mutation_p.M295V|BRPF1_uc003bsg.2_Missense_Mutation_p.M295V|BRPF1_uc011ati.1_Missense_Mutation_p.M295V	NM_004634	NP_004625	P55201	BRPF1_HUMAN	bromodomain and PHD finger-containing protein 1	295	PHD-type.				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			ovary(2)|central_nervous_system(1)	3	Medulloblastoma(99;0.227)					CTTCTGTGACATGTGCAACCT	0.557			NA											10	30					0	0	0.080935	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	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr3:38592973T>A	uc003cio.2	-	28	5084	c.4890A>T	c.(4888-4890)ATA>ATT	p.I1630I	SCN5A_uc003cin.2_Silent_p.I1629I|SCN5A_uc003cil.3_Silent_p.I1630I|SCN5A_uc010hhi.2_Silent_p.I1612I|SCN5A_uc010hhk.2_Silent_p.I1597I|SCN5A_uc011ayr.1_Silent_p.I1576I	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	1630	Helical; Voltage-sensor; Name=S4 of repeat IV; (Potential).				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			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	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	0.597			NA											18	60					0	0	0.055883	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	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr3:89462377G>T	uc003dqy.2	+	10	2074	c.1849G>T	c.(1849-1851)GAT>TAT	p.D617Y	EPHA3_uc010hon.1_RNA	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor	617	Cytoplasmic (Potential).					extracellular region|integral to plasma membrane	ATP binding			lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33	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	0.433			NA								TSP Lung(6;0.00050)			21	62					2.37509e-13	2.74049e-13	0.055883	1	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	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr3:178952085A>G	uc003fjk.2	+	21	3297	c.3140A>G	c.(3139-3141)CAT>CGT	p.H1047R		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, 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(1269)|p.H1047L(152)|p.H1047Y(31)|p.H1047Q(3)|p.H1047T(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	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	0.378	Colon(199;1504 1750 3362 26421 31210 32040)	H1047R(BT20_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(MCAS_OVARY)|H1047R(HCC1954_BREAST)|H1047R(RKO_LARGE_INTESTINE)|H1047L(EFM19_BREAST)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(CAL29_URINARY_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(T47D_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(SKOV3_OVARY)|H1047R(MDAMB453_BREAST)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			14	34					0	0	0.132662	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-44-5645-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr4:38830532G>A	uc003gtm.2	-	1	629	c.563C>T	c.(562-564)ACA>ATA	p.T188I	TLR6_uc010ifg.1_Missense_Mutation_p.T188I	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6 precursor	188	Extracellular (Potential).|LRR 6.				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			ovary(2)	2						TAGACTTTCTGTCTCATTTTC	0.328			NA											8	35					0	0	0.047766	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	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr4:56830457A>C	uc003hbi.2	+	7	951	c.717A>C	c.(715-717)CGA>CGC	p.R239R	CEP135_uc003hbj.2_5'Flank|CEP135_uc010igz.1_Silent_p.R69R	NM_025009	NP_079285	Q66GS9	CP135_HUMAN	centrosome protein 4	239	Potential.				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	Glioma(25;0.08)|all_neural(26;0.101)					TAAGAGAACGAGAGATAGAAC	0.363			NA											7	61					0	0	0.047766	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	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr4:99982307G>A	uc003huf.3	+	11	1117	c.1000G>A	c.(1000-1002)GGA>AGA	p.G334R	METAP1_uc003hug.2_RNA|METAP1_uc010ild.2_RNA	NM_015143	NP_055958	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				0				OV - Ovarian serous cystadenocarcinoma(123;3.12e-07)		TGTTGAAGGCGGATGGCAGGA	0.443			NA											19	105					0	0	0.049695	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	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr4:114530323T>C	uc003ibi.2	-	4	1119	c.260A>G	c.(259-261)TAC>TGC	p.Y87C	CAMK2D_uc003ibj.2_Missense_Mutation_p.Y87C|CAMK2D_uc003ibk.2_Missense_Mutation_p.Y87C|CAMK2D_uc003ibo.3_Missense_Mutation_p.Y87C|CAMK2D_uc003ibm.2_Missense_Mutation_p.Y87C|CAMK2D_uc003ibn.2_Missense_Mutation_p.Y87C|CAMK2D_uc003ibl.2_Missense_Mutation_p.Y87C	NM_001221	NP_001212	Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II	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			ovary(1)	1		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		AAACACCAAGTAGTGAAAGCC	0.323			NA											23	34					0	0	0.116897	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-44-5645-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr5:54701406G>T	uc003jpy.3	+	22	2901	c.2635G>T	c.(2635-2637)GAG>TAG	p.E879*	SKIV2L2_uc011cqi.1_Nonsense_Mutation_p.E778*	NM_015360	NP_056175	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2	879					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(1)|skin(1)	2		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				AGTGGCTTGTGAGATAAGCAG	0.274	Melanoma(2;92 134 23744 29976 33782)		NA											19	94					1.2644e-06	1.37935e-06	0.055883	1	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	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr5:109091091A>G	uc003kou.1	+	5	1732	c.769A>G	c.(769-771)ACT>GCT	p.T257A		NM_002372	NP_002363	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	257	Lumenal (Potential).				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			ovary(1)|central_nervous_system(1)|pancreas(1)	3		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	0.328			NA											16	90					0	0	0.043863	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	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr5:156787321C>T	uc003lwq.2	+	27	2987	c.2849C>T	c.(2848-2850)ACA>ATA	p.T950I	CYFIP2_uc011ddn.1_Missense_Mutation_p.T924I|CYFIP2_uc011ddo.1_Missense_Mutation_p.T754I|CYFIP2_uc003lwr.2_Missense_Mutation_p.T950I|CYFIP2_uc003lws.2_Missense_Mutation_p.T950I|CYFIP2_uc003lwt.2_Missense_Mutation_p.T853I|CYFIP2_uc011ddp.1_Missense_Mutation_p.T684I	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	975					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding				0	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	0.512			NA											16	107					0	0	0.0333	0	0
ODZ2	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	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr5:167642247G>T	uc010jjd.2	+	21	4021	c.4021G>T	c.(4021-4023)GCC>TCC	p.A1341S	ODZ2_uc003lzr.3_Missense_Mutation_p.A1111S|ODZ2_uc003lzt.3_Missense_Mutation_p.A714S|ODZ2_uc010jje.2_Missense_Mutation_p.A605S	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		TGGAGGGAAGGCCATAGATGC	0.557			NA											3	60					0.004672	0.00500571	0.115264	1	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	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr7:19184591G>A	uc003suo.1	-	1	454	c.395C>T	c.(394-396)GCT>GTT	p.A132V	uc003sun.1_RNA	NM_152898	NP_690862	Q96RJ6	FER3L_HUMAN	nephew of atonal 3	132	Helix-loop-helix motif.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			large_intestine(1)	1						TTTCTCGTAAGCAAACGTGGG	0.582			NA											12	124					0	0	0.09319	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	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr7:44806175G>A	uc003tlr.2	+	18	2691	c.2568G>A	c.(2566-2568)ACG>ACA	p.T856T	ZMIZ2_uc003tlq.2_Silent_p.T798T|ZMIZ2_uc003tls.2_Silent_p.T830T|ZMIZ2_uc003tlt.2_Silent_p.T479T|ZMIZ2_uc010kyj.2_Silent_p.T378T|ZMIZ2_uc003tlu.2_Silent_p.T137T|ZMIZ2_uc010kyk.1_5'Flank	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2 isoform 1	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			ovary(2)|large_intestine(2)|breast(1)	5						TAGGACCTACGGGTGAACTGG	0.662	NSCLC(20;604 852 1948 16908 50522)		NA											23	63					0	0	0.083992	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	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr7:101801866C>T	uc003uyx.3	+	9	739	c.701C>T	c.(700-702)ACG>ATG	p.T234M	CUX1_uc003uys.3_Missense_Mutation_p.T245M|CUX1_uc003uyt.2_Missense_Mutation_p.T245M|CUX1_uc011kkn.1_Missense_Mutation_p.T208M|CUX1_uc003uyw.2_Missense_Mutation_p.T199M|CUX1_uc003uyv.2_Missense_Mutation_p.T229M|CUX1_uc003uyu.2_Missense_Mutation_p.T245M	NM_181552	NP_853530	P39880	CUX1_HUMAN	cut-like homeobox 1 isoform a	234	Potential.				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						ATGATCATGACGGACCTTGAA	0.562			NA											3	54					0	0	0.009096	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	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr7:107626714G>A	uc003vew.2	-	6	853	c.518C>T	c.(517-519)TCG>TTG	p.S173L	LAMB1_uc003vev.2_Missense_Mutation_p.S197L|LAMB1_uc003vex.2_Missense_Mutation_p.S173L|LAMB1_uc010ljn.1_Missense_Mutation_p.S259L	NM_002291	NP_002282	P07942	LAMB1_HUMAN	laminin, beta 1 precursor	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			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCCTGGAAACGAGGCCTCACA	0.453			NA											6	106					0	0	0.038147	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	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr9:19786259G>A	uc003zoa.1	-	1	668	c.606C>T	c.(604-606)AAC>AAT	p.N202N	SLC24A2_uc003zob.1_Silent_p.N202N	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN	solute carrier family 24	202	Extracellular (Potential).|Alpha-1.				visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			ovary(3)	3				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		CTATGCCAACGTTGCTGTGAG	0.463			NA											20	55					0	0	0.069288	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	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr9:21971077A>G	uc003zpk.2	-	2	493	c.281T>C	c.(280-282)CTG>CCG	p.L94P	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Silent_p.A149A	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	94	ANK 3.		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 binding|protein kinase binding	p.0?(1112)|p.?(13)|p.H83fs*2(2)|p.E61_L94del(1)|p.L94fs*52(1)|p.T93_D105del(1)|p.R137fs*48(1)|p.A68fs*3(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		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	0.741			17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			4	15					0	0	0.021553	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	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr9:97522766C>T	uc004ava.2	+	1	836	c.701C>T	c.(700-702)GCT>GTT	p.A234V	C9orf3_uc011lui.1_RNA|C9orf3_uc004aux.1_Missense_Mutation_p.A234V|C9orf3_uc004auy.2_Missense_Mutation_p.A234V|C9orf3_uc004auz.1_Missense_Mutation_p.A234V	NM_032823	NP_116212	Q8N6M6	AMPO_HUMAN	aminopeptidase O	234					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		AAGACAGGGGCTCAGACAGCT	0.517			NA											7	18					0	0	0.02938	0	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	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chrX:89177431G>A	uc004efe.2	+	2	396	c.347G>A	c.(346-348)CGT>CAT	p.R116H		NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	116						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						CTTCAACAGCGTAGAAACGAC	0.522			NA											25	78					0	0	0.054565	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	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chrX:134987534T>C	uc004ezh.2	+	5	604	c.437T>C	c.(436-438)ATG>ACG	p.M146T	SAGE1_uc010nry.1_Missense_Mutation_p.M115T|SAGE1_uc011mvv.1_Missense_Mutation_p.M146T	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	146										ovary(2)|skin(1)	3	Acute lymphoblastic leukemia(192;0.000127)					ATTCCATCCATGAGTACCAGG	0.423			NA											6	109					0	0	0.021553	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	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chrX:153553709C>T	uc004fkg.2	+	10	1528	c.1342C>T	c.(1342-1344)CGA>TGA	p.R448*	TKTL1_uc011mzl.1_Nonsense_Mutation_p.R442*|TKTL1_uc011mzm.1_Nonsense_Mutation_p.R244*|TKTL1_uc004fkh.2_Nonsense_Mutation_p.R392*	NM_012253	NP_036385	P51854	TKTL1_HUMAN	transketolase-like 1 isoform a	448					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			ovary(3)|skin(1)	4	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	0.468			NA											21	84					0	0	0.069288	0	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	GAA	GAA	-	-	GAA	GAA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr1:154245864_154245866delGAA	uc001fes.2	+	2	267_269	c.106_108delGAA	c.(106-108)GAAdel	p.E40del	HAX1_uc001fet.2_Intron|HAX1_uc010peo.1_In_Frame_Del_p.E40del|HAX1_uc009wou.2_5'UTR|HAX1_uc009wov.2_In_Frame_Del_p.E14del	NM_006118	NP_006109	O00165	HAX1_HUMAN	HCLS1 associated protein X-1 isoform a	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				0	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			NA							Kostmann_syndrome				7	82	---	---	---	---	NA	NA	NA	NA	NA
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	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr19:15996864_15996865insT	uc002nbs.1	-	9	1036	c.986_splice	c.e9-1	p.G329_splice	CYP4F2_uc010xot.1_Splice_Site_p.G180_splice|CYP4F2_uc010xou.1_Intron	NM_001082	NP_001073	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F,						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			ovary(1)|skin(1)	2						GTGTCATGGCCTGGGGGGCAGC	0.629			NA											19	66	---	---	---	---	NA	NA	NA	NA	NA
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	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr3:47452143_47452144insGCCCCA	uc003crf.1	+	20	2951_2952	c.2855_2856insGCCCCA	c.(2854-2856)GGG>GGGCCCCAG	p.956_957insPQ	PTPN23_uc011baw.1_In_Frame_Ins_p.921_922insPQ|PTPN23_uc011bax.1_Intron|PTPN23_uc011bay.1_In_Frame_Ins_p.826_827insPQ	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type	956_957	3.|6 X 2 AA approximate tandem repeats of P- Q.|Pro-rich.|His.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCAAGGATTGGgccccagcccc	0.51			NA											5	6	---	---	---	---	NA	NA	NA	NA	NA
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	GAG	GAG	-	-	GAG	GAG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chrX:102004419_102004421delGAG	uc010nog.2	+	4	1067_1069	c.496_498delGAG	c.(496-498)GAGdel	p.E171del	BHLHB9_uc011mrq.1_In_Frame_Del_p.E171del|BHLHB9_uc011mrr.1_In_Frame_Del_p.E171del|BHLHB9_uc011mrs.1_In_Frame_Del_p.E171del|BHLHB9_uc011mrt.1_In_Frame_Del_p.E171del|BHLHB9_uc004ejo.2_In_Frame_Del_p.E171del|BHLHB9_uc011mru.1_In_Frame_Del_p.E171del|BHLHB9_uc011mrv.1_In_Frame_Del_p.E171del	NM_001142526	NP_001135998	Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class	171	Poly-Glu.					cytoplasm|nucleus	binding			ovary(2)	2						GTCAGGGGCTGAGGAGGAGGAGG	0.488			NA											8	195	---	---	---	---	NA	NA	NA	NA	NA