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_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	isArtifactMode	oxoGCut
CASZ1	54897	broad.mit.edu	37	1	10725438	10725438	+	Silent	SNP	A	A	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr1:10725438A>T	uc001aro.2	-	5	527	c.207T>A	c.(205-207)CCT>CCA	p.P69P	CASZ1_uc001arp.1_Silent_p.P69P|CASZ1_uc009vmx.2_Silent_p.P93P	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	69					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			skin(1)	1	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CCCCAGACTCAGGGCCACTGC	0.697		NA											16	62					0	0	0	0
PIK3R3	8503	broad.mit.edu	37	1	46543232	46543232	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr1:46543232C>T	uc001cpb.3	-	3	1025	c.269G>A	c.(268-270)CGA>CAA	p.R90Q	PIK3R3_uc009vyb.2_Missense_Mutation_p.R90Q|PIK3R3_uc009vyc.2_Missense_Mutation_p.R107Q|PIK3R3_uc001cpc.3_Missense_Mutation_p.R90Q|PIK3R3_uc010olw.1_Missense_Mutation_p.R136Q	NM_003629	NP_003620	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3	90	SH2 1.				insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding				0	Acute lymphoblastic leukemia(166;0.155)					TGAGGCATCTCGGACCAAGAA	0.393		NA											25	97					0	0	0	0
CYP4A11	1579	broad.mit.edu	37	1	47399867	47399867	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr1:47399867C>T	uc001cqp.3	-	8	1120	c.1069G>A	c.(1069-1071)GAT>AAT	p.D357N	CYP4A11_uc001cqq.2_Missense_Mutation_p.D357N|CYP4A11_uc010omm.1_RNA	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A,	357					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			ovary(2)|skin(2)	4					NADH(DB00157)	GAGGCTCCATCACCCAGGAGG	0.622		NA											14	31					0	0	0	0
C1orf175	374977	broad.mit.edu	37	1	55139731	55139731	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr1:55139731C>T	uc010ooe.1	+	10	2167	c.1843C>T	c.(1843-1845)CTC>TTC	p.L615F	C1orf175_uc001cxq.2_RNA|C1orf175_uc010ooc.1_Missense_Mutation_p.L183F|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Missense_Mutation_p.L133F|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc010oog.1_Missense_Mutation_p.L615F|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	hypothetical protein LOC374977	615						integral to membrane	binding				0						GCTGGGGAGACTCATCCTTCA	0.488		NA											23	86					0	0	0	0
DPH5	51611	broad.mit.edu	37	1	101490909	101490909	+	Silent	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr1:101490909G>A	uc001dts.2	-	2	238	c.91C>T	c.(91-93)CTG>TTG	p.L31L	DPH5_uc001dtr.2_Silent_p.L31L|DPH5_uc001dtq.2_RNA|DPH5_uc001dtt.2_Silent_p.L31L|DPH5_uc001dtu.2_RNA|DPH5_uc001dtv.2_RNA|DPH5_uc001dtw.2_RNA|DPH5_uc001dtx.2_Silent_p.L31L|DPH5_uc001dty.2_5'UTR|DPH5_uc001dtz.2_RNA|uc001dua.2_5'Flank|uc001dub.2_5'Flank	NM_015958	NP_057042	Q9H2P9	DPH5_HUMAN	diphthine synthase isoform a	31					peptidyl-diphthamide biosynthetic process from peptidyl-histidine		diphthine synthase activity				0		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)		TAGGCTTCCAGATACACTCGA	0.507		NA											4	52					0	0	0	0
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867		TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr1:145302714A>G	uc001end.3	+	8	1187	c.1152A>G	c.(1150-1152)TTA>TTG	p.L384L	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_5'UTR|NBPF10_uc001emq.1_Silent_p.L113L	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	hypothetical protein LOC100132406	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment											0	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527		NA											4	84					0	0	0	0
TXNIP	10628	broad.mit.edu	37	1	145438932	145438932	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr1:145438932G>A	uc001enn.3	+	1	471	c.130G>A	c.(130-132)GTT>ATT	p.V44I	NBPF10_uc001emp.3_Intron|TXNIP_uc001enm.1_Intron|TXNIP_uc010oys.1_5'Flank	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	44					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			ovary(2)	2	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGTCAAAGCCGTTAGGATCCT	0.542		NA											24	58					0	0	0	0
LAMC2	3918	broad.mit.edu	37	1	183195980	183195980	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr1:183195980C>G	uc001gqa.2	+	9	1528	c.1214C>G	c.(1213-1215)GCG>GGG	p.A405G	LAMC2_uc001gpz.3_Missense_Mutation_p.A405G|LAMC2_uc010poa.1_Missense_Mutation_p.A105G	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	laminin, gamma 2 isoform a precursor	405	Laminin EGF-like 4; second part.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			skin(2)|ovary(1)	3						AGAGATTCAGCGAGACTGGGG	0.542		NA											16	250					0	0	0	0
RGS2	5997	broad.mit.edu	37	1	192778228	192778228	+	Silent	SNP	T	T	C			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr1:192778228T>C	uc001gsl.2	+	1	60	c.27T>C	c.(25-27)GTT>GTC	p.V9V		NM_002923	NP_002914	P41220	RGS2_HUMAN	regulator of G-protein signaling 2	9					cell cycle|negative regulation of cardiac muscle hypertrophy|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of MAP kinase activity|negative regulation of phospholipase activity|positive regulation of cardiac muscle contraction|regulation of adrenergic receptor signaling pathway|regulation of translation|relaxation of cardiac muscle	cytosol|internal side of plasma membrane|mitochondrion|nucleolus	calmodulin binding|GTPase activator activity|signal transducer activity				0						TCTTGGCTGTTCAACACGACT	0.562		NA											3	101					0	0	0	0
MTR	4548	broad.mit.edu	37	1	237037074	237037075	+	Missense_Mutation	DNP	GT	GT	AA			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr1:237037074_237037075GT>AA	uc001hyi.3	+	23	2830_2831	c.2407_2408GT>AA	c.(2407-2409)GTT>AAT	p.V803N	MTR_uc010pxw.1_Missense_Mutation_p.V396N|MTR_uc010pxx.1_Missense_Mutation_p.V752N|MTR_uc010pxy.1_Missense_Mutation_p.V657N	NM_000254	NP_000245	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine	803	B12-binding.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	GTGCCTCAGAGTTATTGATTTA	0.351		NA											6	35					0	0	0	0
OR2L2	26246	broad.mit.edu	37	1	248201982	248201982	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr1:248201982G>C	uc001idw.2	+	1	509	c.413G>C	c.(412-414)AGA>ACA	p.R138T	OR2L13_uc001ids.2_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L,	138	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			ATAAGCAAAAGAGTGTGTGTG	0.438		NA											5	143					0	0	0	0
GFRA1	2674	broad.mit.edu	37	10	117884861	117884861	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr10:117884861C>T	uc001lcj.2	-	6	1339	c.641G>A	c.(640-642)TGC>TAC	p.C214Y	GFRA1_uc001lci.2_Missense_Mutation_p.C209Y|GFRA1_uc009xyr.2_Missense_Mutation_p.C209Y	NM_005264	NP_005255	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1 isoform a	214	2				axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			ovary(1)|pancreas(1)	2		Lung NSC(174;0.21)		all cancers(201;0.0337)		CCGGCAGGAGCAGAAGAGCAT	0.587		NA											9	43					0	0	0	0
PAOX	196743	broad.mit.edu	37	10	135195045	135195045	+	Silent	SNP	C	C	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr10:135195045C>A	uc001lmv.2	+	3	830	c.750C>A	c.(748-750)ATC>ATA	p.I250I	PAOX_uc001lmw.2_RNA|PAOX_uc001lmx.2_Silent_p.I250I|PAOX_uc001lmy.2_Silent_p.I250I|PAOX_uc001lmz.2_RNA|PAOX_uc001lna.2_RNA|PAOX_uc001lnb.2_RNA|PAOX_uc001lnc.2_RNA	NM_152911	NP_690875	Q6QHF9	PAOX_HUMAN	polyamine oxidase isoform 1	388					polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity				0		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		TGAAGACCATCCACTGGAACG	0.572		NA											10	53					2.18e-05	2.93e-05	1	0
NPAS4	266743	broad.mit.edu	37	11	66191328	66191328	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr11:66191328C>T	uc001ohx.1	+	7	1143	c.967C>T	c.(967-969)CGC>TGC	p.R323C	NPAS4_uc010rpc.1_Missense_Mutation_p.R113C	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	323					transcription, DNA-dependent		DNA binding|signal transducer activity				0						CTGGAGCCTCCGCCAGCAGTT	0.552		NA											28	101					0	0	0	0
LRFN4	78999	broad.mit.edu	37	11	66627262	66627262	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr11:66627262G>T	uc001ojr.2	+	2	1844	c.1504G>T	c.(1504-1506)GCC>TCC	p.A502S	PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron|LRFN4_uc001ojs.2_Intron	NM_024036	NP_076941	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III	502	Extracellular (Potential).					integral to membrane					0						CACGCTGCCGGCCTCGCCCCT	0.692		NA											4	11					0.00024832	0.000323568	1	0
NUMA1	4926	broad.mit.edu	37	11	71725192	71725192	+	Silent	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr11:71725192G>A	uc001orl.1	-	15	3529	c.3357C>T	c.(3355-3357)GGC>GGT	p.G1119G	NUMA1_uc009ysw.1_Silent_p.G682G|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Silent_p.G1119G|NUMA1_uc001orn.2_Silent_p.G682G|NUMA1_uc009ysx.1_Silent_p.G1119G|NUMA1_uc001oro.1_Silent_p.G1119G	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1119	Potential.				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						CCAGCTTGGGGCCTGTTGGCT	0.602		NA	T	RARA	APL								33	61					0	0	0	0
TBCEL	219899	broad.mit.edu	37	11	120957788	120957788	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr11:120957788G>C	uc009zay.2	+	8	1336	c.1258G>C	c.(1258-1260)GAA>CAA	p.E420Q	TBCEL_uc001pxo.2_Missense_Mutation_p.E420Q|TBCEL_uc001pxp.2_Missense_Mutation_p.E276Q|TBCEL_uc001pxq.2_RNA	NM_001130047	NP_001123519	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	420	Ubiquitin-like.					cytoplasm|cytoskeleton				skin(1)	1		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		AATTTACGTGGAATCCAAAAC	0.413		NA											8	16					0	0	0	0
ACAD10	80724	broad.mit.edu	37	12	112182675	112182675	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr12:112182675C>T	uc001tsq.2	+	13	2143	c.1943C>T	c.(1942-1944)TCA>TTA	p.S648L	ACAD10_uc001tsp.2_Missense_Mutation_p.S648L|ACAD10_uc009zvx.2_Missense_Mutation_p.S679L|ACAD10_uc001tss.1_RNA	NM_025247	NP_079523	Q6JQN1	ACD10_HUMAN	acyl-Coenzyme A dehydrogenase family, member 10	648							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			ovary(2)	2						GCTCATACCTCAAGGGGAGGT	0.582		NA											4	58					0	0	0	0
SLC15A1	6564	broad.mit.edu	37	13	99340612	99340612	+	Splice_Site	SNP	T	T	C			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr13:99340612T>C	uc001vno.2	-	20	1652	c.1575_splice	c.e20-1	p.I525_splice		NM_005073	NP_005064	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide						digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			ovary(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	AAGCCTTTTCTATCAAAATAA	0.303		NA											3	57					0	0	0	0
TRAF3	7187	broad.mit.edu	37	14	103363738	103363738	+	Silent	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr14:103363738G>A	uc001ymc.1	+	10	1313	c.960G>A	c.(958-960)CAG>CAA	p.Q320Q	TRAF3_uc001yme.1_Silent_p.Q295Q|TRAF3_uc001ymd.1_Silent_p.Q320Q|TRAF3_uc010txy.1_Silent_p.Q237Q	NM_145725	NP_663777	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3 isoform 1	320	Potential.				apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		TTCATTTACAGGTAAGAATCT	0.403		NA											3	16					0	0	0	0
NEDD4	4734	broad.mit.edu	37	15	56130006	56130006	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr15:56130006T>G	uc002adj.2	-	20	3800	c.3500A>C	c.(3499-3501)CAA>CCA	p.Q1167P	NEDD4_uc002adl.2_Missense_Mutation_p.Q748P|NEDD4_uc002adi.2_Missense_Mutation_p.Q1095P|NEDD4_uc010ugj.1_Missense_Mutation_p.Q1151P|NEDD4_uc010bfm.2_Missense_Mutation_p.Q1150P|NEDD4_uc002adk.2_Intron	NM_198400	NP_006145	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally	1167	HECT.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			skin(2)|ovary(1)|breast(1)	4				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		AGCAGCCATTTGCTTCTGGAT	0.328		NA											4	19					0	0	0	0
MYLPF	29895	broad.mit.edu	37	16	30387481	30387481	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr16:30387481G>T	uc002dxv.1	+	3	168	c.112G>T	c.(112-114)GAC>TAC	p.D38Y		NM_013292	NP_037424	Q96A32	MLRS_HUMAN	myosin light chain, phosphorylatable, fast	38	|EF-hand 1.				skeletal muscle tissue development	muscle myosin complex	calcium ion binding|structural constituent of muscle				0			Colorectal(24;0.193)			CACTGTGATCGACCAGAACCG	0.607		NA											9	45					2.53e-12	3.48e-12	1	0
KCTD19	146212	broad.mit.edu	37	16	67335719	67335719	+	Silent	SNP	G	G	C			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr16:67335719G>C	uc002esu.2	-	5	801	c.750C>G	c.(748-750)GCC>GCG	p.A250A	KCTD19_uc002est.2_5'UTR|KCTD19_uc010vjj.1_5'UTR	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN	potassium channel tetramerisation domain	250						voltage-gated potassium channel complex	voltage-gated potassium channel activity			skin(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		ACCACCTTACGGCTTCAGTGA	0.468		NA											18	186					0	0	0	0
MYO15A	51168	broad.mit.edu	37	17	18055176	18055176	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr17:18055176G>A	uc010vxh.1	+	40	8142	c.7804G>A	c.(7804-7806)GTG>ATG	p.V2602M	MYO15A_uc010vxi.1_5'Flank|MYO15A_uc010vxj.1_5'Flank|MYO15A_uc010vxk.1_5'Flank	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	2602	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					TGGCGGGAAAGTGTTCATGAA	0.567		NA											3	13					0	0	0	0
IGFBP4	3487	broad.mit.edu	37	17	38610286	38610286	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr17:38610286A>G	uc002hus.2	+	3	926	c.614A>G	c.(613-615)GAC>GGC	p.D205G		NM_001552	NP_001543	P22692	IBP4_HUMAN	insulin-like growth factor binding protein 4	205	Thyroglobulin type-1.				DNA metabolic process|signal transduction|skeletal system development						0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			CCCAACTGCGACCGCAACGGC	0.672		NA											3	138					0	0	0	0
CDH19	28513	broad.mit.edu	37	18	64172339	64172339	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr18:64172339C>A	uc002lkc.1	-	12	2167	c.2029G>T	c.(2029-2031)GAG>TAG	p.E677*	CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_3'UTR	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	cadherin 19, type 2 preproprotein	677	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2		Esophageal squamous(42;0.0132)				CTCCTGATCTCAGCGCTTGTG	0.483		NA											47	128					3.55e-21	4.92e-21	1	0
DNMT1	1786	broad.mit.edu	37	19	10251810	10251810	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr19:10251810G>T	uc002mng.2	-	30	3497	c.3317C>A	c.(3316-3318)CCT>CAT	p.P1106H	DNMT1_uc002mne.2_5'Flank|DNMT1_uc002mnf.2_Missense_Mutation_p.P30H|DNMT1_uc010xlc.1_Missense_Mutation_p.P1122H|DNMT1_uc002mnh.2_Missense_Mutation_p.P1001H|DNMT1_uc010xld.1_Missense_Mutation_p.P1106H	NM_001379	NP_001370	P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1 isoform b	1106					chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	TTTGTTTCCAGGGCTACGGGC	0.458		NA											6	161					0.000157383	0.000206641	1	0
ZNF180	7733	broad.mit.edu	37	19	44981990	44981990	+	Silent	SNP	A	A	G			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr19:44981990A>G	uc002ozf.3	-	5	990	c.708T>C	c.(706-708)CAT>CAC	p.H236H	ZNF180_uc002ozh.3_5'UTR|ZNF180_uc002ozi.3_Silent_p.H209H|ZNF180_uc002ozg.3_Silent_p.H235H|ZNF180_uc010ejm.2_Silent_p.H211H	NM_013256	NP_037388	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Prostate(69;0.0435)				TAATCTTCTGATGACTGTTTA	0.343		NA											9	67					0	0	0	0
SH3RF3	344558	broad.mit.edu	37	2	110053585	110053585	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr2:110053585G>C	uc010ywt.1	+	7	1811	c.1811G>C	c.(1810-1812)CGG>CCG	p.R604P		NM_001099289	NP_001092759	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	604							zinc ion binding			ovary(1)	1						AGCCAAGCCCGGAGCACCATT	0.642		NA											7	18					0	0	0	0
LRP2	4036	broad.mit.edu	37	2	170099522	170099522	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr2:170099522G>A	uc002ues.2	-	24	3824	c.3611C>T	c.(3610-3612)ACA>ATA	p.T1204I	LRP2_uc010zdf.1_Missense_Mutation_p.T1067I	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	1204	LDL-receptor class A 12.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ACAACGATTTGTGACGCCAAT	0.403		NA											36	74					0	0	0	0
SEL1L2	80343	broad.mit.edu	37	20	13856747	13856747	+	Silent	SNP	C	C	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr20:13856747C>A	uc010gcf.2	-	12	1123	c.1041G>T	c.(1039-1041)GGG>GGT	p.G347G	SEL1L2_uc002woq.3_Silent_p.G208G|SEL1L2_uc010zrl.1_Silent_p.G347G|SEL1L2_uc002wor.2_RNA	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 precursor	347	Extracellular (Potential).|Sel1-like 6.					integral to membrane	binding			ovary(2)	2						CGGCAGCATTCCCCTCTAAAT	0.308		NA											9	145					0.000274275	0.000354702	1	0
CDK5RAP1	51654	broad.mit.edu	37	20	31973565	31973565	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr20:31973565C>T	uc010gek.2	-	7	891	c.767G>A	c.(766-768)CGA>CAA	p.R256Q	CDK5RAP1_uc002wyy.2_Missense_Mutation_p.R166Q|CDK5RAP1_uc002wyz.2_Missense_Mutation_p.R256Q|CDK5RAP1_uc002wza.2_Missense_Mutation_p.R256Q|CDK5RAP1_uc010gel.2_Missense_Mutation_p.R165Q|CDK5RAP1_uc010gem.2_Missense_Mutation_p.R256Q|CDK5RAP1_uc002wzc.1_Missense_Mutation_p.R256Q|CDK5RAP1_uc010gen.2_Missense_Mutation_p.R256Q	NM_016408	NP_057492	Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	256					brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity			ovary(2)|skin(2)|lung(1)	5						GTCACAGCCTCGCATGATTGA	0.493		NA											10	110					0	0	0	0
PRPF6	24148	broad.mit.edu	37	20	62660829	62660829	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr20:62660829T>C	uc002yho.2	+	19	2699	c.2531T>C	c.(2530-2532)CTC>CCC	p.L844P	PRPF6_uc002yhp.2_Missense_Mutation_p.L804P	NM_012469	NP_036601	O94906	PRP6_HUMAN	PRP6 pre-mRNA processing factor 6 homolog	844					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			ovary(2)	2	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					CCCCATGTGCTCCTGGCCGTG	0.592		NA											13	58					0	0	0	0
ALG12	79087	broad.mit.edu	37	22	50307071	50307071	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr22:50307071G>A	uc003biy.2	-	3	531	c.257C>T	c.(256-258)TCG>TTG	p.S86L		NM_024105	NP_077010	Q9BV10	ALG12_HUMAN	alpha-1,6-mannosyltransferase ALG12	86	Helical; (Potential).				dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane					0		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		TTCTAACAGCGAAAGCACGTA	0.552		NA											6	77					0	0	0	0
PIK3R4	30849	broad.mit.edu	37	3	130452855	130452855	+	Silent	SNP	G	G	C			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr3:130452855G>C	uc003enj.2	-	4	1568	c.987C>G	c.(985-987)GCC>GCG	p.A329A		NM_014602	NP_055417	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	329					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12						TGGCAAACTGGGCCATGTAGG	0.428		NA											25	127					0	0	0	0
SLC9A9	285195	broad.mit.edu	37	3	142985669	142985669	+	Silent	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr3:142985669G>A	uc003evn.2	-	16	1995	c.1813C>T	c.(1813-1815)CTA>TTA	p.L605L		NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	solute carrier family 9 (sodium/hydrogen	605					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			ovary(2)|skin(1)	3						TCCAGACCTAGCCTTGCAGGA	0.507		NA											34	80					0	0	0	0
CC2D2A	57545	broad.mit.edu	37	4	15556747	15556747	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr4:15556747G>A	uc010idv.2	+	21	2784	c.2539G>A	c.(2539-2541)GAC>AAC	p.D847N	CC2D2A_uc003gnx.2_Missense_Mutation_p.D798N|CC2D2A_uc003gnz.1_RNA|CC2D2A_uc003goa.1_RNA	NM_001080522	NP_001073991	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A isoform	847					cell projection organization	cilium|microtubule basal body				pancreas(2)|ovary(1)	3						AGGACTGACAGACATGAAAAA	0.468		NA											12	24					0	0	0	0
AFF1	4299	broad.mit.edu	37	4	88029324	88029324	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr4:88029324C>G	uc003hqj.3	+	10	1776	c.1369C>G	c.(1369-1371)CTT>GTT	p.L457V	AFF1_uc011ccz.1_Missense_Mutation_p.L464V|AFF1_uc003hqk.3_Missense_Mutation_p.L457V|AFF1_uc011cda.1_Missense_Mutation_p.L95V	NM_005935	NP_005926	P51825	AFF1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	457						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)	1		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		TCCACAGTCCCTTCCAGAACC	0.478		NA											9	78					0	0	0	0
GEMIN5	25929	broad.mit.edu	37	5	154296703	154296703	+	Silent	SNP	C	C	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr5:154296703C>T	uc003lvx.3	-	13	1793	c.1710G>A	c.(1708-1710)CTG>CTA	p.L570L	GEMIN5_uc011ddk.1_Silent_p.L569L	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	gemin 5	570	WD 10.				ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			skin(2)|ovary(1)	3	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TAGTACAGATCAGTTTCAGGT	0.393		NA											12	142					0	0	0	0
HLA-A	3105	broad.mit.edu	37	6	29910607	29910607	+	Silent	SNP	G	G	C	rs72555397		TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr6:29910607G>C	uc003nol.2	+	2	147	c.147G>C	c.(145-147)GTG>GTC	p.V49V	HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_Intron|HLA-A_uc010jrq.2_5'UTR|HLA-A_uc003nok.2_5'UTR|HLA-A_uc003non.2_Silent_p.V49V|HLA-A_uc003noo.2_Silent_p.V49V|HLA-A_uc010jrr.2_Silent_p.V49V|HLA-A_uc003nom.2_5'UTR|HLA-A_uc010klp.2_Silent_p.V21V|HLA-A_uc011dmc.1_5'UTR|HLA-A_uc011dmd.1_5'Flank	NM_002116	NP_002107	P30443	1A01_HUMAN	major histocompatibility complex, class I, A	49	Extracellular (Potential).|Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			upper_aerodigestive_tract(1)|ovary(1)	2						TCATCGCCGTGGGCTACGTGG	0.692		NA							Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Multiple Myeloma(9;0.094)			4	38					0	0	0	0
HECW1	23072	broad.mit.edu	37	7	43484116	43484116	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr7:43484116A>C	uc003tid.1	+	11	1950	c.1345A>C	c.(1345-1347)ATC>CTC	p.I449L	HECW1_uc011kbi.1_Missense_Mutation_p.I449L	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	449					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						GCAAAAGGACATCCAGCCTGC	0.642		NA											3	20					0	0	0	0
ESYT2	57488	broad.mit.edu	37	7	158528232	158528232	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr7:158528232C>G	uc003wob.1	-	20	2614	c.2548G>C	c.(2548-2550)GGC>CGC	p.G850R	ESYT2_uc003wny.1_RNA|ESYT2_uc003wnz.1_Missense_Mutation_p.G289R|ESYT2_uc003woa.1_Missense_Mutation_p.G427R	NM_020728	NP_065779	A0FGR8	ESYT2_HUMAN	family with sequence similarity 62 (C2 domain	878	C2 3.					integral to membrane|plasma membrane				central_nervous_system(2)|kidney(1)	3						AGGAAGCCGCCACTGTTCTTC	0.458		NA											4	148					0	0	0	0
TERF1	7013	broad.mit.edu	37	8	73921394	73921394	+	Silent	SNP	C	C	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr8:73921394C>T	uc003xzd.2	+	1	298	c.273C>T	c.(271-273)CGC>CGT	p.R91R	TERF1_uc003xzc.2_RNA|TERF1_uc003xze.2_Silent_p.R91R	NM_017489	NP_059523	P54274	TERF1_HUMAN	telomeric repeat binding factor 1 isoform 1	91	TRFH dimerization.				age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomerase|telomere maintenance via telomere shortening	chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle	caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding			ovary(1)|lung(1)|skin(1)	3	Breast(64;0.218)		Epithelial(68;0.0984)			GAGCTTTCCGCGACGGCCGCT	0.667		NA											13	39					0	0	0	0
TAF1L	138474	broad.mit.edu	37	9	32631389	32631389	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr9:32631389G>A	uc003zrg.1	-	1	4279	c.4189C>T	c.(4189-4191)CGC>TGC	p.R1397C	uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	1397					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GGGTCTGTGCGGCGTCGGTGG	0.468		NA											52	231					0	0	0	0
POMT1	10585	broad.mit.edu	37	9	134386815	134386815	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr9:134386815C>G	uc004cav.2	+	10	1215	c.1013C>G	c.(1012-1014)CCC>CGC	p.P338R	POMT1_uc004cax.2_Missense_Mutation_p.P316R|POMT1_uc011mcj.1_Missense_Mutation_p.P94R|POMT1_uc004cau.2_Missense_Mutation_p.P316R|POMT1_uc004caw.2_Missense_Mutation_p.P262R|POMT1_uc011mck.1_Missense_Mutation_p.P199R|POMT1_uc011mcl.1_Missense_Mutation_p.P164R|POMT1_uc011mcm.1_Missense_Mutation_p.P286R|POMT1_uc011mcn.1_Missense_Mutation_p.P41R	NM_007171	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1 isoform a	338	MIR 1.				multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			upper_aerodigestive_tract(1)	1		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		AAACCTGTGCCCTGCTGGCTT	0.498		NA											28	92					0	0	0	0
FCN1	2219	broad.mit.edu	37	9	137801845	137801845	+	Silent	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr9:137801845G>A	uc004cfi.2	-	9	872	c.780C>T	c.(778-780)GAC>GAT	p.D260D		NM_002003	NP_001994	O00602	FCN1_HUMAN	ficolin 1 precursor	260	Fibrinogen C-terminal.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			large_intestine(1)|ovary(1)	2		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		CATTGTCTTGGTCTTTGGTGG	0.483		NA											57	260					0	0	0	0
MED12	9968	broad.mit.edu	37	X	70339729	70339729	+	Splice_Site	SNP	T	T	G			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chrX:70339729T>G	uc004dyy.2	+	3	595	c.396_splice	c.e3+2	p.K132_splice	MED12_uc011mpq.1_Splice_Site_p.K132_splice|MED12_uc004dyz.2_Splice_Site_p.K132_splice|MED12_uc004dza.2_5'Flank	NM_005120	NP_005111	Q93074	MED12_HUMAN	mediator complex subunit 12						androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Renal(35;0.156)					GCCAAAAAGGTAAGGTACTGT	0.512		NA											4	8					0	0	0	0
GDI1	2664	broad.mit.edu	37	X	153667402	153667402	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chrX:153667402T>G	uc004fli.3	+	4	646	c.304T>G	c.(304-306)TTC>GTC	p.F102V	GDI1_uc011mzo.1_Missense_Mutation_p.F102V	NM_001493	NP_001484	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	102					protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding				0	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-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)					CTACCTGGACTTCAAGGTGGT	0.577		NA											24	31					0	0	0	0
CDK11B	984	broad.mit.edu	37	1	1650883	1650885	+	In_Frame_Del	DEL	TCT	TCT	-	rs147453611	by1000genomes	TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr1:1650883_1650885delTCT	uc001agv.1	-	6	348_350	c.237_239delAGA	c.(235-240)GAAGAT>GAT	p.E79del	CDK11B_uc001ags.1_5'Flank|CDK11B_uc001agt.1_5'Flank|CDK11B_uc001aha.1_In_Frame_Del_p.E45del|CDK11B_uc001agw.1_In_Frame_Del_p.E45del|CDK11B_uc001agy.1_In_Frame_Del_p.E79del|CDK11B_uc001agx.1_In_Frame_Del_p.E79del|CDK11B_uc001agz.1_Translation_Start_Site|SLC35E2B_uc001ahh.3_Intron|SLC35E2_uc009vkm.1_Intron|CDK11A_uc009vkr.2_In_Frame_Del_p.E79del|CDK11A_uc009vks.2_In_Frame_Del_p.E79del|CDK11A_uc010nys.1_In_Frame_Del_p.E79del|CDK11A_uc010nyt.1_In_Frame_Del_p.E79del|CDK11A_uc010nyu.1_RNA|CDK11A_uc009vkt.1_In_Frame_Del_p.E79del|CDK11A_uc009vku.1_In_Frame_Del_p.E79del|CDK11A_uc009vkv.1_In_Frame_Del_p.E79del|CDK11A_uc001aht.1_In_Frame_Del_p.E79del|CDK11B_uc001ahu.1_In_Frame_Del_p.E79del|CDK11B_uc001ahv.1_In_Frame_Del_p.E79del|CDK11B_uc001ahw.1_In_Frame_Del_p.E79del	NM_033486	NP_277021	P21127	CD11B_HUMAN	cell division cycle 2-like 1 (PITSLRE proteins)	79					apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			skin(1)	1						CAAAGAATCATCTTCTTCTCCTC	0.394		NA											21	386	---	---	---	---	NA	NA	NA	NA
ID3	3399	broad.mit.edu	37	1	23885665	23885665	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr1:23885665delC	uc001bhh.3	-	1	658	c.253delG	c.(253-255)GCCfs	p.A85fs	ID3_uc001bhg.1_Frame_Shift_Del_p.A85fs	NM_002167	NP_002158	Q02535	ID3_HUMAN	inhibitor of DNA binding 3	85					negative regulation of sequence-specific DNA binding transcription factor activity		transcription corepressor activity			central_nervous_system(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00314)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;8.83e-25)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;6.5e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		GCTGGCTCGGCCAGGACTACC	0.632		NA											37	86	---	---	---	---	NA	NA	NA	NA
FCHSD2	9873	broad.mit.edu	37	11	72696108	72696108	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr11:72696108delT	uc009ytl.2	-	7	796	c.575delA	c.(574-576)AAGfs	p.K192fs	FCHSD2_uc010rrg.1_Frame_Shift_Del_p.K32fs|FCHSD2_uc001oth.3_Frame_Shift_Del_p.K136fs|FCHSD2_uc001oti.2_Frame_Shift_Del_p.K151fs	NM_014824	NP_055639	O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	192							protein binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			AAAACTTACCTTTACACTTGC	0.264		NA											2	4	---	---	---	---	NA	NA	NA	NA
RB1	5925	broad.mit.edu	37	13	49039220	49039220	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr13:49039220delA	uc001vcb.2	+	22	2464	c.2298delA	c.(2296-2298)ACAfs	p.T766fs		NM_000321	NP_000312	P06400	RB_HUMAN	retinoblastoma 1	766	Interaction with LIMD1.|Pocket; binds T and E1A.|Domain B.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.?(8)		lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GACTGAAAACAAATATTTTGC	0.338		6	D|Mis|N|F|S		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung			Hereditary_Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			13	22	---	---	---	---	NA	NA	NA	NA
SLITRK5	26050	broad.mit.edu	37	13	88329290	88329290	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr13:88329290delG	uc001vln.2	+	2	1866	c.1647delG	c.(1645-1647)TTGfs	p.L549fs	SLITRK5_uc010tic.1_Frame_Shift_Del_p.L308fs	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	549	Extracellular (Potential).|LRR 12.					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GTGGAGTTTTGGACCAGCTGA	0.537		NA											38	129	---	---	---	---	NA	NA	NA	NA
IQGAP1	8826	broad.mit.edu	37	15	91040514	91040516	+	In_Frame_Del	DEL	TCG	TCG	-			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr15:91040514_91040516delTCG	uc002bpl.1	+	37	4903_4905	c.4802_4804delTCG	c.(4801-4806)TTCGAA>TAA	p.1601_1602FE>*	IQGAP1_uc010uqg.1_In_Frame_Del_p.222_223FE>*	NM_003870	NP_003861	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1601_1602	C2.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1)	8	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GTTGGAGACTTCGAAGTGAAAGC	0.345		NA											9	33	---	---	---	---	NA	NA	NA	NA
TBCK	93627	broad.mit.edu	37	4	107092375	107092382	+	Frame_Shift_Del	DEL	AGTCCAAC	AGTCCAAC	-			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr4:107092375_107092382delAGTCCAAC	uc010ilv.2	-	23	2470_2477	c.2105_2112delGTTGGACT	c.(2104-2112)TGTTGGACTfs	p.C702fs	TBCK_uc003hyb.2_Frame_Shift_Del_p.C445fs|TBCK_uc003hye.2_Frame_Shift_Del_p.C663fs|TBCK_uc003hyc.2_Frame_Shift_Del_p.C639fs|TBCK_uc003hyd.2_Frame_Shift_Del_p.C530fs|TBCK_uc003hyf.2_Frame_Shift_Del_p.C702fs	NM_001163435	NP_001156907	Q8TEA7	TBCK_HUMAN	TBC domain-containing protein kinase-like	702_704						intracellular	Rab GTPase activator activity			large_intestine(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1)	5						CACTTTTAGGAGTCCAACAAAACAGGTT	0.389		NA											9	128	---	---	---	---	NA	NA	NA	NA