Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
GABRA3	2556	broad.mit.edu	37	X	151336735	151336735	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chrX:151336735C>T	ENST00000370314.4	-	10	1682	c.1444G>A	c.(1444-1446)Gag>Aag	p.E482K	RP11-329E24.6_ENST00000453915.1_RNA|GABRA3_ENST00000535043.1_Missense_Mutation_p.E482K|GABRA3_ENST00000370311.1_Missense_Mutation_p.E482K	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	482					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ATAGCTGACTCCCGGTTGACA	0.498000													35	13					0	0	0.003271	0	0
LAPTM5	7805	broad.mit.edu	37	1	31210496	31210496	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr1:31210496C>A	ENST00000294507.3	-	6	635	c.561G>T	c.(559-561)atG>atT	p.M187I		NM_006762.2	NP_006753.1	Q13571	LAPM5_HUMAN	lysosomal protein transmembrane 5	187					transport	integral to plasma membrane|lysosomal membrane		p.M187I(1)		large_intestine(2)|lung(7)|skin(1)	10		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		AGATGATCATCATCTTGATGA	0.522000													23	45					7.07758e-08	7.8931e-08	0.004656	1	0
KRT25	147183	broad.mit.edu	37	17	38910653	38910653	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr17:38910653T>G	ENST00000312150.4	-	2	557	c.497A>C	c.(496-498)gAt>gCt	p.D166A		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	166	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				TCTGAAATCATCAGCTGTAAG	0.383000													29	67					0	0	0.005443	0	0
ZNF134	7693	broad.mit.edu	37	19	58132578	58132578	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr19:58132578G>T	ENST00000396161.5	+	3	1401	c.1091G>T	c.(1090-1092)aGg>aTg	p.R364M		NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	364						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GCACACCAGAGGGTTCACACT	0.438000													39	36					2.51541e-25	3.11268e-25	0.004878	1	0
DNAH8	1769	broad.mit.edu	37	6	38885712	38885712	+	Silent	SNP	A	A	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr6:38885712A>G	ENST00000359357.3	+	68	9923	c.9669A>G	c.(9667-9669)gcA>gcG	p.A3223A	DNAH8_ENST00000449981.2_Silent_p.A3440A|DNAH8_ENST00000441566.1_Silent_p.A3187A					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGATGAGTGCAACAGGATTCC	0.333000													3	43					0	0	0.009096	0	0
CSPG4	1464	broad.mit.edu	37	15	75983101	75983101	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr15:75983101G>A	ENST00000308508.5	-	3	397	c.305C>T	c.(304-306)aCg>aTg	p.T102M		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	102	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 1.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	p.T102M(1)		breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						ACTCAGCAGCGTCTCTGCTGG	0.582000													29	66					0	0	0.003271	0	0
OS9	10956	broad.mit.edu	37	12	58088661	58088661	+	Silent	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr12:58088661G>A	ENST00000315970.7	+	2	332	c.291G>A	c.(289-291)ggG>ggA	p.G97G	OS9_ENST00000552285.1_Silent_p.G97G|OS9_ENST00000439210.2_Intron|OS9_ENST00000413095.2_Silent_p.G97G|OS9_ENST00000435406.2_Silent_p.G97G|OS9_ENST00000389142.5_Silent_p.G97G|OS9_ENST00000551035.1_Silent_p.G97G|OS9_ENST00000389146.6_Silent_p.G97G|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000257966.8_Silent_p.G97G	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	97					ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			AAGGGCCTGGGATCCCTGAGT	0.522000													20	41					0	0	0.008871	0	0
HNF1A	6927	broad.mit.edu	37	12	121434487	121434487	+	Silent	SNP	T	T	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr12:121434487T>A	ENST00000257555.6	+	6	1477	c.1251T>A	c.(1249-1251)ggT>ggA	p.G417G	HNF1A_ENST00000400024.2_Silent_p.G417G|HNF1A_ENST00000543427.1_Silent_p.G300G|HNF1A_ENST00000402929.1_Silent_p.G417G|HNF1A_ENST00000541395.1_Silent_p.G417G|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000544413.1_Silent_p.G417G			P20823	HNF1A_HUMAN	HNF1 homeobox A	417					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCGGGCCTGGTGAGCCTGCCT	0.632000									Hepatic Adenoma, Familial Clustering of				19	32					0	0	0.014323	0	0
CR1	1378	broad.mit.edu	37	1	207760880	207760880	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr1:207760880G>A	ENST00000367049.4	+	34	5680	c.5680G>A	c.(5680-5682)Gtc>Atc	p.V1894I	CR1_ENST00000400960.2_Missense_Mutation_p.V1444I|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367052.1_Missense_Mutation_p.V1444I|CR1_ENST00000367051.1_Missense_Mutation_p.V1444I|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367053.1_Missense_Mutation_p.V1444I	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1444	Sushi 29.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AGAAAACTTGGTCTGGTCAAG	0.453000													45	81					0	0	0.014410	0	0
LINC00521	256369	broad.mit.edu	37	14	94464411	94464411	+	RNA	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr14:94464411G>A	ENST00000444118.1	+	0	91					NR_024182.1																						GTCCCTTTTCGGTCTGTCTTC	0.572000													6	18					0	0	0.001984	0	0
SLIT2	9353	broad.mit.edu	37	4	20619185	20619185	+	Missense_Mutation	SNP	G	G	T	rs111791287		TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr4:20619185G>T	ENST00000504154.1	+	36	4512	c.4260G>T	c.(4258-4260)aaG>aaT	p.K1420N	SLIT2_ENST00000503823.1_Missense_Mutation_p.K1412N|SLIT2_ENST00000503837.1_Missense_Mutation_p.K1416N|SLIT2_ENST00000273739.5_Missense_Mutation_p.K1433N	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1420					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AGGCGATCAAGTGCAAGCATG	0.557000													13	15					5.50884e-06	5.94779e-06	0.013537	1	0
MC5R	4161	broad.mit.edu	37	18	13826439	13826439	+	Silent	SNP	C	C	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr18:13826439C>A	ENST00000324750.3	+	1	897	c.675C>A	c.(673-675)gcC>gcA	p.A225A		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	225				ALPGASSARQRTSM -> LCPGPALRGRGPAW (in Ref. 1).	G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						TGCCCGGGGCCAGCTCTGCGC	0.622000													87	179					3.56499e-28	4.43171e-28	0.014410	1	0
BAGE2	85319	broad.mit.edu	37	21	11058238	11058238	+	RNA	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr21:11058238G>A	ENST00000470054.1	-	0	409									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTCGGCTCCTGCAGCACAAGG	0.433000													14	83					0	0	0.001855	0	0
SYDE1	85360	broad.mit.edu	37	19	15222125	15222125	+	Splice_Site	SNP	T	T	C			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr19:15222125T>C	ENST00000600252.1	+	2	1905	c.261_splice	c.e2-1	p.V88_splice	SYDE1_ENST00000342784.2_Splice_Site_p.V431_splice|SYDE1_ENST00000600440.1_Splice_Site_p.V364_splice			Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	431	Pro-rich.				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						CACCCCCAGGTAGTGGGACTG	0.587000													33	22					0	0	0.003755	0	0
SLAMF6	114836	broad.mit.edu	37	1	160466073	160466073	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr1:160466073T>G	ENST00000368059.3	-	2	229	c.160A>C	c.(160-162)Act>Cct	p.T54P	SLAMF6_ENST00000368055.1_Intron|SLAMF6_ENST00000368057.3_Missense_Mutation_p.T54P	NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4	NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1	Q96DU3	SLAF6_HUMAN	SLAM family member 6	54						integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			AAAAGCCAAGTGATGAAGTTG	0.463000													48	135					0	0	0.014410	0	0
WDR17	116966	broad.mit.edu	37	4	177077229	177077229	+	Splice_Site	SNP	G	G	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr4:177077229G>T	ENST00000393643.2	+	18	2712		c.e18-1		WDR17_ENST00000280190.4_Splice_Site|WDR17_ENST00000507824.2_Splice_Site|WDR17_ENST00000508596.1_Splice_Site	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TTCTATTGTAGTGGGACAAAG	0.368000													24	69					2.27525e-19	2.8027e-19	0.003954	1	0
FAM184A	79632	broad.mit.edu	37	6	119345399	119345399	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr6:119345399C>G	ENST00000338891.7	-	2	1182	c.739G>C	c.(739-741)Gat>Cat	p.D247H	FAM184A_ENST00000521531.1_Missense_Mutation_p.D247H|FAM184A_ENST00000522284.1_Missense_Mutation_p.D127H|FAM184A_ENST00000368475.4_Missense_Mutation_p.D127H|FAM184A_ENST00000352896.5_Missense_Mutation_p.D127H|RP11-351A11.1_ENST00000518570.1_RNA	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	247										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						CCTTCATAATCCTCAATTAGT	0.423000													16	39					0	0	0.003163	0	0
FKBP11	51303	broad.mit.edu	37	12	49319149	49319149	+	Silent	SNP	C	C	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr12:49319149C>A	ENST00000550765.1	-	1	461	c.63G>T	c.(61-63)gcG>gcT	p.A21A	FKBP11_ENST00000453172.2_Silent_p.A21A|AC073610.5_ENST00000537495.1_Intron|ARF3_ENST00000398092.4_Intron|CCDC65_ENST00000266984.5_Intron|FKBP11_ENST00000552878.1_Silent_p.A21A	NM_016594.2	NP_057678.1	Q9NYL4	FKB11_HUMAN	FK506 binding protein 11, 19 kDa	21					protein folding	integral to membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			kidney(1)|large_intestine(3)|lung(1)	5						CCCGGCACACCGCCGCACTGa	0.697000													3	25					0.00909568	0.0094805	0.009096	1	0
PTPRB	5787	broad.mit.edu	37	12	71002999	71002999	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr12:71002999T>G	ENST00000334414.6	-	4	873	c.829A>C	c.(829-831)Agc>Cgc	p.S277R	PTPRB_ENST00000550857.1_Missense_Mutation_p.S59R|PTPRB_ENST00000550358.1_Missense_Mutation_p.S277R|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000538708.1_Missense_Mutation_p.S59R|PTPRB_ENST00000451516.2_Missense_Mutation_p.S59R|PTPRB_ENST00000261266.5_Missense_Mutation_p.S59R|PTPRB_ENST00000551525.1_Missense_Mutation_p.S276R	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	59	Fibronectin type-III 3.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GTGTCACTGCTATAGATGAGG	0.498000													3	67					0	0	0.004672	0	0
OR1J2	26740	broad.mit.edu	37	9	125273891	125273891	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr9:125273891G>A	ENST00000335302.5	+	1	811	c.811G>A	c.(811-813)Gat>Aat	p.D271N		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						TATTGACAAGGATGTCATTGT	0.473000													62	126					0	0	0.014410	0	0
SPECC1	92521	broad.mit.edu	37	17	20108048	20108048	+	Missense_Mutation	SNP	T	T	C	rs149577639	by1000genomes	TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr17:20108048T>C	ENST00000395530.2	+	2	651	c.443T>C	c.(442-444)cTt>cCt	p.L148P	AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000395525.3_Missense_Mutation_p.L148P|SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000395522.2_Missense_Mutation_p.L148P|SPECC1_ENST00000261503.5_Missense_Mutation_p.L229P|SPECC1_ENST00000395529.3_Missense_Mutation_p.L229P|SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000395527.4_Missense_Mutation_p.L229P	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	229						nucleus				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		ATAAGAGCTCTTGAGGAGAAG	0.478000													33	153					0	0	0.012213	0	0
ZNF763	284390	broad.mit.edu	37	19	12088200	12088200	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr19:12088200G>T	ENST00000343949.5	+	3	309	c.154G>T	c.(154-156)Gac>Tac	p.D52Y	ZNF763_ENST00000592625.1_Intron|ZNF763_ENST00000358987.3_Missense_Mutation_p.D49Y|ZNF763_ENST00000545530.1_Intron|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000590798.1_Missense_Mutation_p.D69Y|ZNF763_ENST00000538752.1_Missense_Mutation_p.D69Y	NM_001012753.1	NP_001012771.1			zinc finger protein 763											central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						AAAGTGGAAAGACCAGAACAT	0.333000													18	32					2.35188e-11	2.68928e-11	0.006122	1	0
PRKCH	5583	broad.mit.edu	37	14	61917604	61917604	+	Silent	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr14:61917604C>T	ENST00000332981.5	+	6	1132	c.747C>T	c.(745-747)agC>agT	p.S249S	PRKCH_ENST00000555082.1_Silent_p.S88S	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	249					intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		ACAAGTTCAGCATCCACAACT	0.438000													23	38					0	0	0.003330	0	0
PDE10A	10846	broad.mit.edu	37	6	165862443	165862443	+	Silent	SNP	T	T	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr6:165862443T>A	ENST00000366882.1	-	6	493	c.339A>T	c.(337-339)gcA>gcT	p.A113A	PDE10A_ENST00000354448.4_Silent_p.A113A|PDE10A_ENST00000539869.2_Silent_p.A123A			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	113	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	GGAAATACAGTGCAAATCCAT	0.368000													23	38					0	0	0.003330	0	0
ZNF571	51276	broad.mit.edu	37	19	38057174	38057174	+	Silent	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr19:38057174C>T	ENST00000328550.2	-	4	255	c.156G>A	c.(154-156)gtG>gtA	p.V52V	ZNF571_ENST00000358744.3_Silent_p.V52V|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571_ENST00000451802.2_Silent_p.V52V|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000589802.1_RNA|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571_ENST00000593133.1_Silent_p.V52V			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	52	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACTTTTTGGTCACACAACTGG	0.338000													16	51					0	0	0.004007	0	0
ITGA8	8516	broad.mit.edu	37	10	15726024	15726024	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr10:15726024C>A	ENST00000378076.3	-	4	900	c.547G>T	c.(547-549)Gag>Tag	p.E183*		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	183					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GGAGAGAACTCGGCATAGGCG	0.458000													16	42					3.45872e-05	3.70479e-05	0.004007	1	0
CHRM2	1129	broad.mit.edu	37	7	136700385	136700385	+	Missense_Mutation	SNP	A	A	G	rs142006633	byFrequency	TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr7:136700385A>G	ENST00000445907.2	+	3	1301	c.773A>G	c.(772-774)aAc>aGc	p.N258S	CHRM2_ENST00000401861.1_Missense_Mutation_p.N258S|CHRM2_ENST00000397608.3_Missense_Mutation_p.N258S|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.N258S|CHRM2_ENST00000402486.3_Missense_Mutation_p.N258S|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.N258S|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000586239.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	258					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	CTGGAGCACAACAAAATCCAG	0.512000													10	19					0	0	0.010729	0	0
RNF44	22838	broad.mit.edu	37	5	175956543	175956543	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr5:175956543G>A	ENST00000274811.4	-	9	1641	c.1117C>T	c.(1117-1119)Cat>Tat	p.H373Y	RNF44_ENST00000537487.1_Missense_Mutation_p.H292Y	NM_014901.4	NP_055716.1	Q7L0R7	RNF44_HUMAN	ring finger protein 44	373							zinc ion binding			endometrium(2)|lung(3)|prostate(1)|skin(1)|stomach(1)	8	all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCGACTGATGGCTGTCCGGG	0.647000													22	25					0	0	0.002780	0	0
TOX4	9878	broad.mit.edu	37	14	21955828	21955828	+	Silent	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr14:21955828G>A	ENST00000405508.1	+	4	570	c.294G>A	c.(292-294)ggG>ggA	p.G98G	TOX4_ENST00000262709.3_Silent_p.G98G|TOX4_ENST00000494242.1_3'UTR|TOX4_ENST00000448790.2_Silent_p.G75G			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	98						chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		AGGGCGGGGGGCTCCTGAGTG	0.557000													35	55					0	0	0.013726	0	0
RNF17	56163	broad.mit.edu	37	13	25448319	25448319	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr13:25448319A>T	ENST00000255324.5	+	33	4567	c.4515A>T	c.(4513-4515)gaA>gaT	p.E1505D	RNF17_ENST00000339524.3_Missense_Mutation_p.E515D|RNF17_ENST00000381921.1_Missense_Mutation_p.E1463D	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1505	Tudor 4.				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CCATTAAAGAATTTAATCCTT	0.328000													31	36					0	0	0.010818	0	0
SLITRK5	26050	broad.mit.edu	37	13	88329860	88329860	+	Silent	SNP	C	C	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr13:88329860C>A	ENST00000325089.6	+	2	2436	c.2217C>A	c.(2215-2217)ccC>ccA	p.P739P	SLITRK5_ENST00000400028.3_Silent_p.P498P	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	739						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CCGCGCTGCCCAAGGTGAAGA	0.667000													37	101					1.90571e-15	2.26512e-15	0.004289	1	0
ATP2B3	492	broad.mit.edu	37	X	152825277	152825277	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chrX:152825277G>A	ENST00000370186.1	+	16	3000	c.2674G>A	c.(2674-2676)Gag>Aag	p.E892K	ATP2B3_ENST00000349466.2_Missense_Mutation_p.E906K|ATP2B3_ENST00000393842.1_Missense_Mutation_p.E892K|ATP2B3_ENST00000370181.2_Missense_Mutation_p.E892K|ATP2B3_ENST00000359149.3_Missense_Mutation_p.E906K|ATP2B3_ENST00000460549.1_3'UTR|ATP2B3_ENST00000263519.4_Missense_Mutation_p.E906K			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	906					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCACCCACAGAGTCGCTGCT	0.597000													35	11					0	0	0.004878	0	0
MYCBP2	23077	broad.mit.edu	37	13	77632376	77632376	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr13:77632376G>A	ENST00000407578.2	-	78	13572	c.13306C>T	c.(13306-13308)Ctc>Ttc	p.L4436F	MYCBP2_ENST00000357337.6_Missense_Mutation_p.L4398F|MYCBP2_ENST00000544440.2_Missense_Mutation_p.L4398F	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	4398					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GCTGCCGAGAGCGCTTCGGTG	0.458000													49	105					0	0	0.014410	0	0
ZNF678	339500	broad.mit.edu	37	1	227842404	227842404	+	Silent	SNP	A	A	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr1:227842404A>G	ENST00000343776.4	+	4	798	c.453A>G	c.(451-453)aaA>aaG	p.K151K	ZNF678_ENST00000498759.1_Intron|ZNF678_ENST00000397097.3_Silent_p.K206K			F5GXA7	F5GXA7_HUMAN	zinc finger protein 678	206					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				CTGGAGAGAAACCCTACAAAT	0.353000													26	78					0	0	0.004656	0	0
TMEM87A	25963	broad.mit.edu	37	15	42560198	42560198	+	Translation_Start_Site	SNP	T	T	C			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr15:42560198T>C	ENST00000568432.1	-	0	283				TMEM87A_ENST00000448392.1_Missense_Mutation_p.I19V|TMEM87A_ENST00000307216.6_Missense_Mutation_p.I80V|TMEM87A_ENST00000389834.4_Missense_Mutation_p.I80V			Q8NBN3	TM87A_HUMAN	transmembrane protein 87A							integral to membrane				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		TACCAGGTTATATTCAAAGAC	0.323000													25	46					0	0	0.004656	0	0
EARS2	124454	broad.mit.edu	37	16	23563530	23563530	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr16:23563530C>G	ENST00000449606.1	-	2	266	c.235G>C	c.(235-237)Gat>Cat	p.D79H	EARS2_ENST00000564501.1_Missense_Mutation_p.D79H|EARS2_ENST00000563232.1_Missense_Mutation_p.D79H|EARS2_ENST00000563459.1_Missense_Mutation_p.D79H	NM_001083614.1	NP_001077083.1	Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	79					glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|glutamate-tRNA ligase activity|RNA binding			central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)	L-Glutamic Acid(DB00142)	CGAGTCTGATCTGTGTCCTCT	0.547000													35	71					0	0	0.004289	0	0
LZTS3	9762	broad.mit.edu	37	20	3147717	3147717	+	Silent	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr20:3147717C>T	ENST00000329152.3	-	1	1490	c.93G>A	c.(91-93)ccG>ccA	p.P31P	LZTS3_ENST00000360342.3_Silent_p.P31P|LZTS3_ENST00000337576.5_Silent_p.P31P	NM_014731.2	NP_055546.1																					GGCGGGGGTCCGGGGGTCCAA	0.706000													9	10					0	0	0.008291	0	0
NARS	4677	broad.mit.edu	37	18	55283091	55283091	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr18:55283091C>A	ENST00000256854.5	-	3	665	c.210G>T	c.(208-210)tgG>tgT	p.W70C	NARS_ENST00000423481.2_5'UTR	NM_004539.3	NP_004530.1	O43776	SYNC_HUMAN	asparaginyl-tRNA synthetase	70					asparaginyl-tRNA aminoacylation	cytosol|soluble fraction	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding			breast(1)|endometrium(5)|large_intestine(5)|lung(8)|skin(1)	20		Colorectal(73;0.227)			L-Asparagine(DB00174)	GTTCCCTATGCCACATCTTTT	0.388000													22	55					1.87028e-06	2.04374e-06	0.012319	1	0
MAZ	4150	broad.mit.edu	37	16	29820025	29820025	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr16:29820025C>G	ENST00000219782.6	+	4	1348	c.1242C>G	c.(1240-1242)agC>agG	p.S414R	MAZ_ENST00000568544.1_Missense_Mutation_p.S15R|MAZ_ENST00000562337.1_Missense_Mutation_p.S109R|MAZ_ENST00000568282.1_Missense_Mutation_p.S15R|MAZ_ENST00000563402.1_Intron|AC009133.14_ENST00000563806.1_RNA|MAZ_ENST00000322945.6_Missense_Mutation_p.S414R|MAZ_ENST00000566906.2_Intron|MAZ_ENST00000569978.1_Missense_Mutation_p.S15R|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000545521.1_Missense_Mutation_p.S391R	NM_001042539.1	NP_001036004.1	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	414					regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						AGGTGCACAGCCAGGGTCCTC	0.612000													12	18					0	0	0.001855	0	0
CTAGE5	4253	broad.mit.edu	37	14	39764138	39764138	+	Missense_Mutation	SNP	A	A	G	rs150627486	byFrequency	TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr14:39764138A>G	ENST00000553728.1	+	12	2395	c.2182A>G	c.(2182-2184)Acc>Gcc	p.T728A	CTAGE5_ENST00000553352.1_Missense_Mutation_p.T164A|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.T164A|CTAGE5_ENST00000348007.3_Missense_Mutation_p.T193A|CTAGE5_ENST00000556148.1_Missense_Mutation_p.T118A|CTAGE5_ENST00000396158.2_Missense_Mutation_p.T198A|CTAGE5_ENST00000557038.1_Missense_Mutation_p.T113A|CTAGE5_ENST00000341502.5_Missense_Mutation_p.T193A|CTAGE5_ENST00000396165.4_Missense_Mutation_p.T164A|CTAGE5_ENST00000280083.3_Missense_Mutation_p.T193A|CTAGE5_ENST00000341749.3_Missense_Mutation_p.T181A																							GGCCAAAATGACCTTCAAGAT	0.313000													4	88					0	0	0.000602	0	0
SYVN1	84447	broad.mit.edu	37	11	64897499	64897499	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr11:64897499C>A	ENST00000526060.1	-	13	1572	c.1380G>T	c.(1378-1380)atG>atT	p.M460I	SYVN1_ENST00000377190.3_Missense_Mutation_p.M461I|SYVN1_ENST00000307289.6_Missense_Mutation_p.M409I|SYVN1_ENST00000294256.8_Missense_Mutation_p.M460I			Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	461	Pro-rich.				ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						GGGGCATACCCATCCAGGGAG	0.647000													7	14					5.18039e-06	5.61554e-06	0.003080	1	0
MYO1A	4640	broad.mit.edu	37	12	57431381	57431381	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr12:57431381C>G	ENST00000442789.2	-	20	2293	c.2006G>C	c.(2005-2007)gGg>gCg	p.G669A	MYO1A_ENST00000300119.3_Missense_Mutation_p.G669A|MYO1A_ENST00000544473.1_Missense_Mutation_p.G507A	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	669	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						GGCCAGCTCCCCCGAGGACAT	0.512000													107	229					0	0	0.014410	0	0
NIPBL	25836	broad.mit.edu	37	5	37048756	37048756	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr5:37048756A>G	ENST00000282516.8	+	39	7241	c.6742A>G	c.(6742-6744)Atg>Gtg	p.M2248V	NIPBL_ENST00000448238.2_Missense_Mutation_p.M2248V	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2248					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AGATACACGTATGCAGCAGGC	0.269000													9	24					0	0	0.008291	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125686264	125686264	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chrX:125686264G>T	ENST00000371126.1	-	1	570	c.328C>A	c.(328-330)Cag>Aag	p.Q110K		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	110										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CACACCACCTGCCTGGAGTTC	0.637000													36	17					4.65686e-17	5.63397e-17	0.003755	1	0
DRD5	1816	broad.mit.edu	37	4	9784899	9784899	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr4:9784899A>C	ENST00000304374.2	+	1	1642	c.1246A>C	c.(1246-1248)Aac>Cac	p.N416H		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	416					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CATGATGCCCAACGCCGTTAC	0.567000													19	48					0	0	0.008871	0	0
ZFAND2A	90637	broad.mit.edu	37	7	1197827	1197827	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr7:1197827T>G	ENST00000401903.1	-	2	281	c.22A>C	c.(22-24)Aag>Cag	p.K8Q	ZFAND2A_ENST00000316495.3_Missense_Mutation_p.K8Q			Q8N6M9	ZFN2A_HUMAN	zinc finger, AN1-type domain 2A	8						cytoplasm|nucleus	zinc ion binding			lung(2)|ovary(1)	3		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15)		GAACAATGCTTCCCCAAATCA	0.408000													48	230					0	0	0.014410	0	0
SLC30A1	7779	broad.mit.edu	37	1	211751730	211751730	+	Silent	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr1:211751730G>A	ENST00000367001.4	-	1	354	c.225C>T	c.(223-225)atC>atT	p.I75I		NM_021194.2	NP_067017.2	Q9Y6M5	ZNT1_HUMAN	solute carrier family 30 (zinc transporter), member 1	75					cadmium ion transmembrane transport|cellular calcium ion homeostasis|cellular zinc ion homeostasis|negative regulation of calcium ion import|negative regulation of neurotransmitter secretion|negative regulation of zinc ion import	integral to membrane|T-tubule	calcium channel inhibitor activity|zinc ion transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1)	11				OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)		CCTCGGCTCGGATCCAGCCGA	0.662000													16	20					0	0	0.004990	0	0
N4BP2L2	10443	broad.mit.edu	37	13	33111164	33111164	+	Translation_Start_Site	SNP	T	T	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr13:33111164T>A	ENST00000446957.2	-	1	0	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	N4BP2L2_ENST00000357505.6_Intron|N4BP2L2_ENST00000504114.1_Intron|N4BP2L2_ENST00000399396.3_Splice_Site_p.M1_splice|N4BP2L2_ENST00000267068.3_Splice_Site_p.M1_splice			Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	1										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		CCATAAGACATCTGAGAAATA	0.289000													10	14					0	0	0.006214	0	0
ARMC4	55130	broad.mit.edu	37	10	28196653	28196653	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr10:28196653G>A	ENST00000305242.5	-	17	2641	c.2549C>T	c.(2548-2550)cCt>cTt	p.P850L	ARMC4_ENST00000537576.1_Missense_Mutation_p.P542L|ARMC4_ENST00000545014.1_Missense_Mutation_p.P375L	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	850							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GTCTGGGTGAGGATTTTTCAG	0.443000													18	40					0	0	0.007413	0	0
NBEA	26960	broad.mit.edu	37	13	35619137	35619137	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr13:35619137G>A	ENST00000540320.1	+	3	1114	c.580G>A	c.(580-582)Gag>Aag	p.E194K	NBEA_ENST00000379939.2_Missense_Mutation_p.E194K|NBEA_ENST00000310336.4_Missense_Mutation_p.E194K|NBEA_ENST00000400445.3_Missense_Mutation_p.E194K			Q8NFP9	NBEA_HUMAN	neurobeachin	194						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CACTGTCAAGGAGTTGAAGCT	0.418000													9	14					0	0	0.006214	0	0
ING5	84289	broad.mit.edu	37	2	242650884	242650884	+	Silent	SNP	C	C	T	rs142180451	byFrequency	TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr2:242650884C>T	ENST00000313552.6	+	4	395	c.369C>T	c.(367-369)tcC>tcT	p.S123S	ING5_ENST00000406941.1_Silent_p.S123S|ING5_ENST00000482774.1_3'UTR	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5	123					DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			large_intestine(1)|lung(1)|skin(1)	3		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		TTGAAAGCTCCGGAGGGCGAG	0.393000													44	94					0	0	0.007835	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21467564	21467564	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr12:21467564C>G	ENST00000307378.6	-	5	974	c.254G>C	c.(253-255)aGa>aCa	p.R85T	SLCO1A2_ENST00000452078.1_Missense_Mutation_p.R85T|SLCO1A2_ENST00000537524.1_Intron|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.R83T|SLCO1A2_ENST00000473830.1_Intron|SLCO1A2_ENST00000458504.1_Intron	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	85					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						CATTATAGGTCTATGCAGTTT	0.328000													19	41					0	0	0.008871	0	0
SUPV3L1	6832	broad.mit.edu	37	10	70962246	70962246	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr10:70962246C>G	ENST00000359655.4	+	12	1630	c.1570C>G	c.(1570-1572)Ctc>Gtc	p.L524V		NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	524					DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGCCTACCATCTCCCTGATGC	0.373000													23	53					0	0	0.006320	0	0
SEC24D	9871	broad.mit.edu	37	4	119649746	119649746	+	Silent	SNP	A	A	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr4:119649746A>T	ENST00000379735.5	-	22	3202	c.2931T>A	c.(2929-2931)atT>atA	p.I977I	SEC24D_ENST00000505134.1_5'UTR|SEC24D_ENST00000429811.2_3'UTR|SEC24D_ENST00000511481.1_Silent_p.I607I|SEC24D_ENST00000280551.6_Silent_p.I976I	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	976					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						TTTGTTGGATAATACCCATTA	0.308000													7	25					0	0	0.004482	0	0
MCOLN3	55283	broad.mit.edu	37	1	85491754	85491754	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr1:85491754G>T	ENST00000370589.2	-	9	1015	c.963C>A	c.(961-963)ttC>ttA	p.F321L	MCOLN3_ENST00000341115.4_Missense_Mutation_p.F265L|MCOLN3_ENST00000370587.1_3'UTR|WDR63_ENST00000370596.1_Intron	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	321						integral to membrane	ion channel activity			endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		AATGGAGGAGGAAAAAATTGA	0.363000													10	16					2.80697e-09	3.15639e-09	0.010729	1	0
GPC4	2239	broad.mit.edu	37	X	132438794	132438794	+	Silent	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chrX:132438794G>A	ENST00000370828.3	-	7	1775	c.1251C>T	c.(1249-1251)aaC>aaT	p.N417N	GPC4_ENST00000535467.1_Silent_p.N347N	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	417					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					CCTCATTGCCGTTTCCTGCAG	0.468000													74	35					0	0	0.014410	0	0
PLCL2	23228	broad.mit.edu	37	3	17052859	17052859	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr3:17052859G>A	ENST00000418129.2	+	2	2108	c.1643G>A	c.(1642-1644)aGg>aAg	p.R548K	PLCL2_ENST00000396755.2_Missense_Mutation_p.R548K|PLCL2_ENST00000432376.1_Missense_Mutation_p.R548K	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	674	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						TTTCTTGCTAGGGTTTTTCCC	0.398000													16	23					0	0	0.006122	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45479008	45479008	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr21:45479008A>T	ENST00000291574.4	+	6	878	c.703A>T	c.(703-705)Atg>Ttg	p.M235L	TRAPPC10_ENST00000380221.3_Missense_Mutation_p.M235L	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	235					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						TGTTTTCGAGATGCTGCAGCA	0.468000													9	28					0	0	0.008291	0	0
GOLGA2P5	55592	broad.mit.edu	37	12	100559710	100559710	+	RNA	SNP	T	T	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr12:100559710T>G	ENST00000397112.4	-	0	599					NR_036632.1															large_intestine(1)|lung(3)	4						CAGAGGCTGGTGCCCGCCTTC	0.602000													5	15					0	0	0.001984	0	0
RASD1	51655	broad.mit.edu	37	17	17399294	17399294	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr17:17399294G>T	ENST00000225688.3	-	1	413	c.202C>A	c.(202-204)Cgc>Agc	p.R68S	RASD1_ENST00000579152.1_Missense_Mutation_p.R68S	NM_001199989.1|NM_016084.4	NP_001186918.1|NP_057168.1	Q9Y272	RASD1_HUMAN	RAS, dexamethasone-induced 1	68					G-protein coupled receptor protein signaling pathway|small GTPase mediated signal transduction	nucleus|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4						ACCTCGCCGCGGATGGAGTAG	0.672000													15	72					3.41278e-10	3.86972e-10	0.004990	1	0
ACSM3	6296	broad.mit.edu	37	16	20797459	20797459	+	Silent	SNP	T	T	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr16:20797459T>G	ENST00000289416.5	+	9	1678	c.1203T>G	c.(1201-1203)ccT>ccG	p.P401P	ACSM3_ENST00000567387.1_3'UTR|ACSM3_ENST00000450120.2_Silent_p.P393P|ERI2_ENST00000300005.3_Intron|ACSM3_ENST00000440284.2_Silent_p.P401P	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	401					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						TGGGAAAACCTTCTCCTGCTT	0.388000													15	23					0	0	0.008871	0	0
UBE4A	9354	broad.mit.edu	37	11	118267058	118267058	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr11:118267058C>T	ENST00000252108.3	+	20	3235	c.3104C>T	c.(3103-3105)cCc>cTc	p.P1035L	UBE4A_ENST00000431736.2_Missense_Mutation_p.P1042L|UBE4A_ENST00000545354.1_Missense_Mutation_p.P507L	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	1035	U-box.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		AACCGTAGTCCCCTCACCATG	0.418000													23	42					0	0	0.003954	0	0
PHF21B	112885	broad.mit.edu	37	22	45281799	45281799	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr22:45281799C>T	ENST00000313237.5	-	11	1367	c.1217G>A	c.(1216-1218)gGt>gAt	p.G406D	PHF21B_ENST00000403565.1_Missense_Mutation_p.G202D|PHF21B_ENST00000404079.2_Missense_Mutation_p.G352D|PHF21B_ENST00000396103.3_Missense_Mutation_p.G364D	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	406							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		CCAGGGCACACCCTCGTCTTT	0.597000													57	84					0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179457367	179457367	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr2:179457367C>A	ENST00000589042.1	-	301	59589	c.59365G>T	c.(59365-59367)Gat>Tat	p.D19789Y	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D18148Y|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D10724Y|TTN_ENST00000342992.6_Missense_Mutation_p.D17221Y|TTN_ENST00000342175.6_Missense_Mutation_p.D10916Y|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D10849Y|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18148	Fibronectin type-III 43.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGTTGGCATCAAGAATCAAC	0.363000													35	51					7.65355e-07	8.46577e-07	0.012213	1	0
RIN2	54453	broad.mit.edu	37	20	19981537	19981537	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr20:19981537G>T	ENST00000255006.6	+	12	2941	c.2792G>T	c.(2791-2793)gGc>gTc	p.G931V	RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Missense_Mutation_p.G449V	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	882					endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						GATCCTTATGGCATCATTTTC	0.532000													22	63					5.45024e-15	6.44985e-15	0.003330	1	0
NRIP1	8204	broad.mit.edu	37	21	16339770	16339770	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr21:16339770T>A	ENST00000400202.1	-	3	1456	c.744A>T	c.(742-744)gaA>gaT	p.E248D	NRIP1_ENST00000318948.4_Missense_Mutation_p.E248D|NRIP1_ENST00000400199.1_Missense_Mutation_p.E248D			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	248	Repression domain 1.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TAGCCCTTTTTTCCACCATGC	0.473000													19	47					0	0	0.012319	0	0
ASB4	51666	broad.mit.edu	37	7	95157465	95157465	+	Silent	SNP	C	C	A	rs146416403	by1000genomes	TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr7:95157465C>A	ENST00000325885.5	+	3	899	c.828C>A	c.(826-828)gcC>gcA	p.A276A	ASB4_ENST00000428113.1_Silent_p.A276A	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	276					intracellular signal transduction					central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			AAGCTGGCGCCGAAGCCAATC	0.577000											OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	35					8.10497e-08	9.00183e-08	0.010504	1	0
ZNF71	58491	broad.mit.edu	37	19	57133864	57133864	+	Silent	SNP	G	G	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr19:57133864G>T	ENST00000328070.6	+	3	1443	c.1209G>T	c.(1207-1209)gtG>gtT	p.V403V		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	403						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		ACCAGATCGTGCACACCGGGG	0.647000													15	47					8.60227e-14	1.00483e-13	0.004007	1	0
PIK3CA	5290	broad.mit.edu	37	3	178916946	178916946	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr3:178916946G>C	ENST00000263967.3	+	2	490	c.333G>C	c.(331-333)aaG>aaC	p.K111N		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	111					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.K111N(12)|p.K111_L113delKIL(2)|p.K111_I112>N(1)|p.K111del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GTGAAGAAAAGATCCTCAATC	0.328000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			6	42					0	0	0.003080	0	0
C15orf39	56905	broad.mit.edu	37	15	75498857	75498857	+	Silent	SNP	T	T	C			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr15:75498857T>C	ENST00000360639.2	+	2	788	c.468T>C	c.(466-468)gaT>gaC	p.D156D	C15orf39_ENST00000567617.1_Silent_p.D156D|C15orf39_ENST00000394987.4_Silent_p.D156D			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	156										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						GGCCACTGGATGTTGACTGGA	0.622000													37	66					0	0	0.007835	0	0
BRD2	6046	broad.mit.edu	37	6	32947816	32947816	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr6:32947816G>T	ENST00000395289.2	+	12	3759	c.2158G>T	c.(2158-2160)Gag>Tag	p.E720*	BRD2_ENST00000374825.4_Nonsense_Mutation_p.E685*|BRD2_ENST00000449085.2_Nonsense_Mutation_p.E638*|BRD2_ENST00000374831.4_Nonsense_Mutation_p.E685*|BRD2_ENST00000395287.1_Nonsense_Mutation_p.E720*|BRD2_ENST00000443797.2_Nonsense_Mutation_p.E565*			P25440	BRD2_HUMAN	bromodomain containing 2	685	ET.				spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						AGAAGAGATTGAGATTGATTT	0.483000													4	60					1.23904e-05	1.33246e-05	0.000602	1	0
RFC4	5984	broad.mit.edu	37	3	186518927	186518927	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr3:186518927T>G	ENST00000392481.2	-	3	470	c.189A>C	c.(187-189)aaA>aaC	p.K63N	RFC4_ENST00000296273.2_Missense_Mutation_p.K63N|RFC4_ENST00000433496.1_Missense_Mutation_p.K63N	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	63					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		CTAAAGATTTTTTCAGCACTG	0.378000													24	106					0	0	0.006320	0	0
ANO4	121601	broad.mit.edu	37	12	101520815	101520815	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr12:101520815G>C	ENST00000392979.3	+	26	3091	c.2730G>C	c.(2728-2730)aaG>aaC	p.K910N	ANO4_ENST00000392977.3_Missense_Mutation_p.K945N|ANO4_ENST00000299222.9_Missense_Mutation_p.K465N|ANO4_ENST00000550015.1_Missense_Mutation_p.K465N	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	945						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						AGAGGAAGAAGAATGGAAAAG	0.488000										HNSCC(74;0.22)			6	16					0	0	0.001984	0	0
LIFR	3977	broad.mit.edu	37	5	38482196	38482196	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr5:38482196C>T	ENST00000263409.4	-	20	2957	c.2795G>A	c.(2794-2796)cGt>cAt	p.R932H	LIFR_ENST00000453190.2_Missense_Mutation_p.R932H	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	932					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					ATCTTCAGGACGCTCAGCTAC	0.433000			T	PLAG1	salivary adenoma								29	188					0	0	0.012213	0	0
TSPYL5	85453	broad.mit.edu	37	8	98289495	98289495	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr8:98289495G>A	ENST00000322128.3	-	1	681	c.578C>T	c.(577-579)tCg>tTg	p.S193L		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	193					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					TGGGGGCCCCGACCCTGCATC	0.622000													24	96					0	0	0.003954	0	0
DEFB114	245928	broad.mit.edu	37	6	49928037	49928037	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr6:49928037C>T	ENST00000322066.3	-	2	177	c.178G>A	c.(178-180)Gag>Aag	p.E60K		NM_001037499.1	NP_001032588.1	Q30KQ6	DB114_HUMAN	defensin, beta 114	60					defense response to bacterium	extracellular region				kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Lung NSC(77;0.042)					TACAATTTCTCAGTGCAGCAA	0.378000													12	24					0	0	0.001855	0	0
PCDH8	5100	broad.mit.edu	37	13	53419596	53419596	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr13:53419596C>T	ENST00000377942.3	-	2	3006	c.2803G>A	c.(2803-2805)Gct>Act	p.A935T	PCDH8_ENST00000338862.4_Missense_Mutation_p.A838T	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	935					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		TTTTTCAGAGCGTCCCCGCTG	0.522000													7	74					0	0	0.003080	0	0
TEX101	83639	broad.mit.edu	37	19	43920656	43920656	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr19:43920656T>C	ENST00000602198.1	+	6	836	c.394T>C	c.(394-396)Tgt>Cgt	p.C132R	TEX101_ENST00000601707.1_3'UTR|TEX101_ENST00000253435.7_Missense_Mutation_p.C132R|TEX101_ENST00000598265.1_Missense_Mutation_p.C114R	NM_031451.4	NP_113639.4	Q9BY14	TX101_HUMAN	testis expressed 101	114						anchored to membrane|plasma membrane				large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				GGATTCCTTCTGTAATGACAA	0.507000													98	142					0	0	0.014410	0	0
SKIDA1	387640	broad.mit.edu	37	10	21804965	21804965	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr10:21804965C>G	ENST00000449193.2	-	4	4039	c.1787G>C	c.(1786-1788)cGa>cCa	p.R596P	SKIDA1_ENST00000444772.3_Missense_Mutation_p.R517P	NM_207371.3	NP_997254.3			SKI/DACH domain containing 1																		CCTAGCCTCTCGGAGTATTCT	0.438000													16	81					0	0	0.003163	0	0
MUC16	94025	broad.mit.edu	37	19	9088493	9088493	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr19:9088493C>G	ENST00000397910.4	-	1	3525	c.3322G>C	c.(3322-3324)Gat>Cat	p.D1108H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1108	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGACATCATCAGAAAATGTG	0.443000													18	36					0	0	0.004990	0	0
NEB	4703	broad.mit.edu	37	2	152397296	152397296	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr2:152397296G>T	ENST00000427231.2	-	137	20904	c.20702C>A	c.(20701-20703)gCc>gAc	p.A6901D	NEB_ENST00000409198.1_Missense_Mutation_p.A5200D|NEB_ENST00000604864.1_Missense_Mutation_p.A6901D|NEB_ENST00000172853.10_Missense_Mutation_p.A5200D|NEB_ENST00000397345.3_Missense_Mutation_p.A6901D|NEB_ENST00000603639.1_Missense_Mutation_p.A6901D	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	5200					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTCTTTGGTGGCAAGTTCAAC	0.413000													26	45					2.79863e-10	3.18668e-10	0.004656	1	0
NIN	51199	broad.mit.edu	37	14	51259494	51259494	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr14:51259494G>A	ENST00000245441.5	-	5	561	c.371C>T	c.(370-372)aCg>aTg	p.T124M	NIN_ENST00000486200.1_5'UTR|NIN_ENST00000453196.1_Missense_Mutation_p.T124M|NIN_ENST00000382041.3_Missense_Mutation_p.T124M|NIN_ENST00000382043.4_Missense_Mutation_p.T124M|NIN_ENST00000389868.3_Missense_Mutation_p.T124M|NIN_ENST00000530997.2_Missense_Mutation_p.T124M|NIN_ENST00000324330.9_Missense_Mutation_p.T124M	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	124					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CTCAATCACCGTCACTTCAGG	0.542000			T	PDGFRB	MPD								26	45					0	0	0.004656	0	0
NR0B1	190	broad.mit.edu	37	X	30327172	30327172	+	Silent	SNP	C	C	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chrX:30327172C>A	ENST00000378970.4	-	1	543	c.309G>T	c.(307-309)ccG>ccT	p.P103P	NR0B1_ENST00000453287.1_Silent_p.P103P	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	103	4 X 67 AA tandem repeats.				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	AGCCCCAGCACGGACCCAGCG	0.677000											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	15					2.37509e-13	2.73894e-13	0.010504	1	0
FAM86DP	692099	broad.mit.edu	37	3	75477008	75477008	+	RNA	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr3:75477008C>T	ENST00000459803.1	-	0	430					NR_024241.1																						CCTGTGGTACCATGGGAGATG	0.582000													20	10					0	0	0.002780	0	0
IGKV1D-43	28891	broad.mit.edu	37	2	90249391	90249391	+	RNA	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr2:90249391C>T	ENST00000468879.1	+	0	528																											TATTATAGTACCCCTCCCACA	0.517000													54	138					0	0	0.014410	0	0
SCN3A	6328	broad.mit.edu	37	2	166003416	166003416	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr2:166003416G>A	ENST00000360093.3	-	12	1995	c.1504C>T	c.(1504-1506)Cga>Tga	p.R502*	SCN3A_ENST00000409101.3_Nonsense_Mutation_p.R502*|SCN3A_ENST00000283254.7_Nonsense_Mutation_p.R502*	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	502						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TTCTTCCTTCGGTTCCTCCAT	0.428000													51	96					0	0	0.014410	0	0
SAA4	6291	broad.mit.edu	37	11	18257396	18257396	+	Silent	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr11:18257396C>T	ENST00000278222.4	-	2	258	c.78G>A	c.(76-78)aaG>aaA	p.K26K	SAA2-SAA4_ENST00000524555.1_RNA	NM_006512.3	NP_006503.2			serum amyloid A4, constitutive											haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(1)|stomach(1)	13						GGAGAGCCTCCTTGAAAAACG	0.493000													24	79					0	0	0.005443	0	0
VPS16	64601	broad.mit.edu	37	20	2845938	2845938	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr20:2845938C>T	ENST00000380445.3	+	21	2221	c.2149C>T	c.(2149-2151)Cgt>Tgt	p.R717C	VPS16_ENST00000380443.3_Missense_Mutation_p.R403C|VPS16_ENST00000380469.3_Missense_Mutation_p.R573C|PTPRA_ENST00000380393.3_5'UTR	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	717					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						GCAGCTGGCACGTGACTTCCG	0.592000													23	60					0	0	0.014323	0	0
POLE	5426	broad.mit.edu	37	12	133249289	133249289	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr12:133249289T>C	ENST00000320574.5	-	15	1653	c.1610A>G	c.(1609-1611)gAg>gGg	p.E537G	POLE_ENST00000535270.1_Missense_Mutation_p.E510G	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	537					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GACGTAGGTCTCAGAGTCCAG	0.577000								DNA polymerases (catalytic subunits)					31	64					0	0	0.012213	0	0
SEC16A	9919	broad.mit.edu	37	9	139366454	139366454	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr9:139366454C>T	ENST00000313050.7	-	2	3750	c.3677G>A	c.(3676-3678)aGc>aAc	p.S1226N	SEC16A_ENST00000290037.6_Missense_Mutation_p.S1048N|SEC16A_ENST00000371706.3_Missense_Mutation_p.S1048N|SEC16A_ENST00000431893.2_Missense_Mutation_p.S1048N	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1048	Required for endoplasmic reticulum localization.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CGAGGAGTGGCTGGCTCGGGA	0.637000													33	37					0	0	0.013726	0	0
PLEKHH3	79990	broad.mit.edu	37	17	40823111	40823111	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr17:40823111C>T	ENST00000293349.6	-	9	1752	c.1322G>A	c.(1321-1323)cGg>cAg	p.R441Q	PLEKHH3_ENST00000591022.1_Missense_Mutation_p.R441Q|PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000412503.1_Missense_Mutation_p.R441Q			Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	441	FERM.				signal transduction	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GTTGCGGCTCCGGGCCAAGCC	0.667000													32	55					0	0	0.012213	0	0
DCLK2	166614	broad.mit.edu	37	4	151168815	151168815	+	Silent	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr4:151168815G>A	ENST00000296550.7	+	13	2593	c.1839G>A	c.(1837-1839)ccG>ccA	p.P613P	DCLK2_ENST00000302176.8_Silent_p.P630P|DCLK2_ENST00000506325.1_Silent_p.P612P	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	613	Protein kinase.				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TGGAGTTTCCGGCCCCCTACT	0.512000													12	25					0	0	0.001855	0	0
ITPR2	3709	broad.mit.edu	37	12	26808679	26808679	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr12:26808679G>A	ENST00000381340.3	-	20	2967	c.2551C>T	c.(2551-2553)Cct>Tct	p.P851S		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	851					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TCCCCAAAAGGAAAGGGCTGG	0.338000													37	61					0	0	0.004289	0	0
CST3	1471	broad.mit.edu	37	20	23614554	23614554	+	Nonstop_Mutation	SNP	T	T	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr20:23614554T>A	ENST00000398411.1	-	3	522	c.440A>T	c.(439-441)tAg>tTg	p.*147L	CST3_ENST00000398409.1_Nonstop_Mutation_p.*147L|CST3_ENST00000376925.3_Nonstop_Mutation_p.*147L			P01034	CYTC_HUMAN	cystatin C	0					defense response|fibril organization|negative regulation of blood vessel remodeling|negative regulation of collagen catabolic process|negative regulation of elastin catabolic process|negative regulation of extracellular matrix disassembly	extracellular space	beta-amyloid binding|cysteine-type endopeptidase inhibitor activity|protease binding			large_intestine(2)|lung(1)|ovary(1)	4	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					TACAGACCCCTAGGCGTCCTG	0.577000													31	97					0	0	0.010818	0	0
SYN3	8224	broad.mit.edu	37	22	32909744	32909744	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr22:32909744C>G	ENST00000358763.2	-	14	1920	c.1678G>C	c.(1678-1680)Gac>Cac	p.D560H	SYN3_ENST00000467095.1_5'UTR|SYN3_ENST00000332840.5_Missense_Mutation_p.D560H	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	560	E.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TTGGCCTCGTCTTCACTTGGG	0.562000													28	55					0	0	0.005443	0	0
WDR54	84058	broad.mit.edu	37	2	74652827	74652827	+	Nonstop_Mutation	SNP	G	G	C			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr2:74652827G>C	ENST00000348227.4	+	10	1092	c.1004G>C	c.(1003-1005)tGa>tCa	p.*335S	WDR54_ENST00000409791.1_3'UTR	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54	0										breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						AGCAGTGTGTGAGAAGAGCAG	0.507000													71	98					0	0	0.014410	0	0
NLRP11	204801	broad.mit.edu	37	19	56303779	56303779	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr19:56303779A>G	ENST00000443188.1	-	9	3111	c.2401T>C	c.(2401-2403)Ttc>Ctc	p.F801L	NLRP11_ENST00000589093.1_Missense_Mutation_p.F801L|NLRP11_ENST00000589824.2_Missense_Mutation_p.F747L|NLRP11_ENST00000360133.3_Missense_Mutation_p.F747L|NLRP11_ENST00000592953.1_Missense_Mutation_p.F702L	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	801							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GTTGGGCTGAACAGAAGCACT	0.473000													9	78					0	0	0.004482	0	0
TARS2	80222	broad.mit.edu	37	1	150478094	150478094	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr1:150478094C>A	ENST00000369064.3	+	17	1955	c.1921C>A	c.(1921-1923)Ctg>Atg	p.L641M	TARS2_ENST00000606933.1_Missense_Mutation_p.L559M|TARS2_ENST00000369054.2_Missense_Mutation_p.L511M	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	641					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	GGCTGCAGGACTGGTCAGTGA	0.527000													42	69					4.0306e-16	4.83315e-16	0.014410	1	0
HSPA8	3312	broad.mit.edu	37	11	122928593	122928593	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr11:122928593T>A	ENST00000534624.1	-	9	2066	c.1790A>T	c.(1789-1791)aAa>aTa	p.K597I	HSPA8_ENST00000526110.1_Missense_Mutation_p.K578I|HSPA8_ENST00000532636.1_Missense_Mutation_p.K597I|HSPA8_ENST00000227378.3_Missense_Mutation_p.K597I|HSPA8_ENST00000453788.2_Intron|HSPA8_ENST00000534319.1_Missense_Mutation_p.K361I|HSPA8_ENST00000533540.1_Missense_Mutation_p.K451I	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	597					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CTCCAGCTCTTTCTGTTGATG	0.463000													53	88					0	0	0.014410	0	0
IKBIP	121457	broad.mit.edu	37	12	99020188	99020188	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr12:99020188T>A	ENST00000299157.4	-	3	1027	c.654A>T	c.(652-654)agA>agT	p.R218S	IKBIP_ENST00000420861.1_Intron|IKBIP_ENST00000393042.3_Intron|IKBIP_ENST00000342502.2_Intron	NM_153687.3	NP_710154.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	219					induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						CTTCTTCTTGTCTTTTTACTG	0.408000													25	58					0	0	0.003330	0	0
GNB2L1	10399	broad.mit.edu	37	5	180666087	180666087	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr5:180666087G>A	ENST00000512805.1	-	5	1024	c.616C>T	c.(616-618)Ctc>Ttc	p.L206F	GNB2L1_ENST00000511900.1_Missense_Mutation_p.L158F|GNB2L1_ENST00000504726.1_Intron|GNB2L1_ENST00000376817.4_Missense_Mutation_p.L162F|GNB2L1_ENST00000511566.1_Missense_Mutation_p.L206F	NM_006098.4	NP_006089.1	P63244	GBLP_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1	206					apoptosis|cell cycle|gastrulation|interspecies interaction between organisms|negative regulation of cell growth|negative regulation of phagocytosis|negative regulation of translation|negative regulation of Wnt receptor signaling pathway|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of gastrulation|positive regulation of GTPase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein homooligomerization|positive regulation of protein phosphorylation|regulation of cell cycle|regulation of cell division|regulation of establishment of cell polarity|regulation of protein localization|rhythmic process	cytoskeleton|dendrite|midbody|nucleus|perikaryon|perinuclear region of cytoplasm|phagocytic cup|small ribosomal subunit	ion channel inhibitor activity|protein kinase C binding|protein phosphatase binding|protein tyrosine kinase inhibitor activity|receptor tyrosine kinase binding|SH2 domain binding	p.L206I(1)		lung(3)|skin(2)	5	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11)		GAAGCACAGAGGGATCCATCT	0.522000													47	45					0	0	0.014410	0	0
MGAM	8972	broad.mit.edu	37	7	141730195	141730195	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr7:141730195G>A	ENST00000475668.2	+	11	1309	c.1255G>A	c.(1255-1257)Gag>Aag	p.E419K	MGAM_ENST00000549489.2_Missense_Mutation_p.E419K			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	419	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTATATGGATGAGAGAAGGGA	0.348000													7	13					0	0	0.004482	0	0
RRM2B	50484	broad.mit.edu	37	8	103236307	103236307	+	Silent	SNP	A	A	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr8:103236307A>G	ENST00000251810.3	-	5	760	c.517T>C	c.(517-519)Ttg>Ctg	p.L173L	RRM2B_ENST00000519962.1_Intron|RRM2B_ENST00000519317.1_Intron|RRM2B_ENST00000395912.2_Silent_p.L121L	NM_001172478.1|NM_015713.4	NP_001165949.1|NP_056528.2	Q7LG56	RIR2B_HUMAN	ribonucleotide reductase M2 B (TP53 inducible)	173					deoxyribonucleoside diphosphate metabolic process|DNA repair|nucleobase, nucleoside and nucleotide interconversion	nucleoplasm	ribonucleoside-diphosphate reductase activity|transition metal ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	9	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000728)			ATCCATCGCAAGGCCCAATCT	0.333000								Modulation of nucleotide pools					66	82					0	0	0.014410	0	0
ATP13A1	57130	broad.mit.edu	37	19	19766741	19766741	+	Splice_Site	SNP	C	C	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr19:19766741C>G	ENST00000357324.6	-	9	1241	c.1213_splice	c.e9-1	p.P405_splice	ATP13A1_ENST00000291503.5_Splice_Site_p.P287_splice	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	405					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.P405P(1)|p.?(1)		central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CGCTGTCAACCGCTGGGGAGA	0.652000													4	16					0	0	0.009096	0	0
DUSP26	78986	broad.mit.edu	37	8	33451188	33451188	+	Missense_Mutation	SNP	C	C	T	rs141858173		TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr8:33451188C>T	ENST00000256261.4	-	3	816	c.299G>A	c.(298-300)cGa>cAa	p.R100Q	DUSP26_ENST00000523956.1_Missense_Mutation_p.R100Q	NM_024025.1	NP_076930.1	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26 (putative)	100	Tyrosine-protein phosphatase.					Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		GGGCGTGCCTCGCCACCGGCT	0.632000													10	34					0	0	0.006214	0	0
TRIM48	79097	broad.mit.edu	37	11	55032387	55032387	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr11:55032387C>T	ENST00000417545.2	+	2	142	c.56C>T	c.(55-57)tCt>tTt	p.S19F		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	3						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						AACATGAATTCTGGAATCTCG	0.463000													89	188					0	0	0.014410	0	0
EPHA3	2042	broad.mit.edu	37	3	89456492	89456492	+	Silent	SNP	C	C	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr3:89456492C>G	ENST00000336596.2	+	8	1893	c.1668C>G	c.(1666-1668)ctC>ctG	p.L556L	EPHA3_ENST00000494014.1_Silent_p.L556L	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	556						extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TTATTCTCCTCACTGTTGTCA	0.408000										TSP Lung(6;0.00050)			10	13					0	0	0.010729	0	0
AFTPH	54812	broad.mit.edu	37	2	64780007	64780007	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr2:64780007C>T	ENST00000422803.1	+	2	1713	c.1399C>T	c.(1399-1401)Cac>Tac	p.H467Y	AFTPH_ENST00000409183.1_Missense_Mutation_p.H98Y|AFTPH_ENST00000238855.7_Missense_Mutation_p.H467Y|AFTPH_ENST00000238856.4_Missense_Mutation_p.H467Y|AFTPH_ENST00000409933.1_Missense_Mutation_p.H467Y			Q6ULP2	AFTIN_HUMAN	aftiphilin	467					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						GTCTTCAGAGCACTTTCCACA	0.413000													33	58					0	0	0.010818	0	0
PKD1L1	168507	broad.mit.edu	37	7	47898336	47898336	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr7:47898336C>G	ENST00000289672.2	-	27	4347	c.4297G>C	c.(4297-4299)Gaa>Caa	p.E1433Q		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1433	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TTCGAGTTTTCTTGCTCAGAG	0.438000													16	57					0	0	0.004990	0	0
RFX6	222546	broad.mit.edu	37	6	117198535	117198535	+	Silent	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr6:117198535C>T	ENST00000332958.2	+	1	113	c.97C>T	c.(97-99)Ctg>Ttg	p.L33L		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	33					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TGTGCAGCTCCTGGGCAAGGG	0.667000													15	6					0	0	0.004007	0	0
ENTPD8	377841	broad.mit.edu	37	9	140330690	140330690	+	Silent	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr9:140330690G>A	ENST00000371506.2	-	7	1008	c.825C>T	c.(823-825)ctC>ctT	p.L275L	ENTPD8_ENST00000472938.1_Silent_p.L275L|ENTPD8_ENST00000344119.2_Silent_p.L275L	NM_001033113.1	NP_001028285.1	Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	275						integral to membrane|plasma membrane	ATP binding			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		GGTAGCCGCTGAGGTAGCACG	0.706000													12	32					0	0	0.013537	0	0
ABCF1	23	broad.mit.edu	37	6	30546284	30546284	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr6:30546284G>C	ENST00000326195.8	+	6	531	c.419G>C	c.(418-420)aGt>aCt	p.S140T	ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Missense_Mutation_p.S140T	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	140					inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						CAGGATCAGAGTGAGGAAGAG	0.502000													19	5					0	0	0.012319	0	0
PLBD1	79887	broad.mit.edu	37	12	14706306	14706306	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr12:14706306C>G	ENST00000240617.5	-	2	808	c.156G>C	c.(154-156)aaG>aaC	p.K52N		NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	52					lipid catabolic process	extracellular region	hydrolase activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						CTTGTACTGTCTTTTCAGCAG	0.413000													26	38					0	0	0.005443	0	0
SRGAP1	57522	broad.mit.edu	37	12	64521813	64521813	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr12:64521813G>A	ENST00000355086.3	+	21	3237	c.2713G>A	c.(2713-2715)Gac>Aac	p.D905N	SRGAP1_ENST00000543397.1_Missense_Mutation_p.D842N|SRGAP1_ENST00000357825.3_Missense_Mutation_p.D882N	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	905					axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CCTCAACAATGACAGTCCTGA	0.617000													31	54					0	0	0.010818	0	0
SELP	6403	broad.mit.edu	37	1	169576215	169576215	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr1:169576215G>C	ENST00000263686.6	-	9	1528	c.1491C>G	c.(1489-1491)aaC>aaG	p.N497K	SELP_ENST00000367786.2_Missense_Mutation_p.N435K|SELP_ENST00000367794.2_Missense_Mutation_p.N435K|SELP_ENST00000367793.2_Missense_Mutation_p.N435K|SELP_ENST00000367791.2_Missense_Mutation_p.N373K|SELP_ENST00000458599.2_Missense_Mutation_p.N435K|SELP_ENST00000367792.2_Missense_Mutation_p.N435K|SELP_ENST00000367788.2_Missense_Mutation_p.N435K	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	497	Sushi 5.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	CAGAATTCCAGTTTCCAGTAG	0.453000													38	40					0	0	0.007835	0	0
CPS1	1373	broad.mit.edu	37	2	211473156	211473156	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr2:211473156C>T	ENST00000233072.5	+	19	2460	c.2264C>T	c.(2263-2265)tCc>tTc	p.S755F	CPS1_ENST00000451903.2_Missense_Mutation_p.S304F|CPS1_ENST00000430249.2_Missense_Mutation_p.S761F	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	755					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		AACGTCGTATCCGGGAAGACA	0.423000													27	47					0	0	0.006320	0	0
SERPINH1	871	broad.mit.edu	37	11	75277799	75277799	+	Silent	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr11:75277799C>T	ENST00000524558.1	+	2	1840	c.405C>T	c.(403-405)taC>taT	p.Y135Y	SERPINH1_ENST00000358171.3_Silent_p.Y135Y|SERPINH1_ENST00000533603.1_Silent_p.Y135Y|SERPINH1_ENST00000530284.1_Silent_p.Y135Y			P50454	SERPH_HUMAN	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	135					regulation of proteolysis|response to unfolded protein	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	collagen binding|serine-type endopeptidase inhibitor activity			endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					GCCGACTGTACGGACCCAGCT	0.642000													16	25					0	0	0.003163	0	0
TEX2	55852	broad.mit.edu	37	17	62290905	62290905	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr17:62290905T>A	ENST00000258991.3	-	2	757	c.673A>T	c.(673-675)Act>Tct	p.T225S	TEX2_ENST00000583097.1_Missense_Mutation_p.T225S|TEX2_ENST00000584379.1_Missense_Mutation_p.T225S			Q8IWB9	TEX2_HUMAN	testis expressed 2	225					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		TGCCGGGAAGTGTCCGTGGAC	0.532000													41	58					0	0	0.007835	0	0
PTPRN2	5799	broad.mit.edu	37	7	157959789	157959789	+	Silent	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr7:157959789G>A	ENST00000389413.3	-	6	847	c.744C>T	c.(742-744)gcC>gcT	p.A248A	PTPRN2_ENST00000409483.1_Silent_p.A210A|PTPRN2_ENST00000404321.2_Silent_p.A271A|PTPRN2_ENST00000389418.4_Silent_p.A248A|PTPRN2_ENST00000389416.4_Silent_p.A231A	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	248						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GGGCAGCATAGGCACTGAGGG	0.662000													13	12					0	0	0.001855	0	0
CASP7	840	broad.mit.edu	37	10	115481445	115481445	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr10:115481445G>A	ENST00000369321.2	+	5	702	c.382G>A	c.(382-384)Gag>Aag	p.E128K	CASP7_ENST00000345633.4_Missense_Mutation_p.E95K|CASP7_ENST00000468790.1_3'UTR|CASP7_ENST00000369315.1_Missense_Mutation_p.E95K|CASP7_ENST00000369331.4_Missense_Mutation_p.E95K|CASP7_ENST00000369318.3_Missense_Mutation_p.E95K|CASP7_ENST00000452490.2_Missense_Mutation_p.E70K	NM_033338.5	NP_203124.1	P55210	CASP7_HUMAN	caspase 7, apoptosis-related cysteine peptidase	95					activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis	cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm	cysteine-type endopeptidase activity|protein binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8		Colorectal(252;0.0946)|Breast(234;0.188)		Epithelial(162;0.012)|all cancers(201;0.014)		CAAAGATGCCGAGGCGCTCTT	0.502000													39	71					0	0	0.005524	0	0
PSG11	5680	broad.mit.edu	37	19	43529018	43529018	+	Silent	SNP	G	G	A	rs138426313		TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr19:43529018G>A	ENST00000401740.1	-	2	358	c.255C>T	c.(253-255)gaC>gaT	p.D85D	PSG11_ENST00000320078.7_Silent_p.D85D|PSG11_ENST00000403486.1_Intron|PSG11_ENST00000306322.7_Intron			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	85	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				TTATTTGACCGTCTACTACAT	0.443000													56	179					0	0	0.014410	0	0
ZNF347	84671	broad.mit.edu	37	19	53644866	53644866	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr19:53644866T>A	ENST00000452676.2	-	5	1644	c.1218A>T	c.(1216-1218)gaA>gaT	p.E406D	ZNF347_ENST00000334197.7_Missense_Mutation_p.E405D|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.E406D	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		CCTTGCCACATTCATTACATT	0.423000													42	60					0	0	0.006230	0	0
MFI2	4241	broad.mit.edu	37	3	196735690	196735690	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr3:196735690C>T	ENST00000296350.5	-	12	1785	c.1672G>A	c.(1672-1674)Ggc>Agc	p.G558S		NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	558	Transferrin-like 2.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		CTGAAGGCGCCGCGGTAGCCG	0.672000													26	60					0	0	0.006320	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999149	46999149	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr10:46999149G>C	ENST00000374314.4	+	1	1224	c.269G>C	c.(268-270)tGg>tCg	p.W90S	GPRIN2_ENST00000374317.1_Missense_Mutation_p.W90S			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	90										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GGAGGCCACTGGTGGAGCAGC	0.667000													9	58					0	0	0.004007	0	0
MICU3	286097	broad.mit.edu	37	8	16884802	16884802	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr8:16884802G>T	ENST00000318063.5	+	1	56	c.14G>T	c.(13-15)cGa>cTa	p.R5L		NM_181723.2	NP_859074.1			mitochondrial calcium uptake family, member 3									p.R5P(1)									GCTGCGCTGCGAAGGCTCTTG	0.731000													8	15					1.58986e-06	1.74434e-06	0.008291	1	0
MTHFD2P1	100287639	broad.mit.edu	37	3	95374086	95374086	+	RNA	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr3:95374086C>T	ENST00000494840.1	-	0	1775					NR_077228.1																						CTATTGTGAACAGGTTTAGAA	0.393000													4	22					0	0	0.009096	0	0
OR10S1	219873	broad.mit.edu	37	11	123847492	123847492	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr11:123847492T>A	ENST00000531945.1	-	1	996	c.907A>T	c.(907-909)Act>Tct	p.T303S		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TTCCGCAAAGTGTAAATGAAT	0.537000													43	83					0	0	0.010771	0	0
ALKBH1	8846	broad.mit.edu	37	14	78161201	78161201	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr14:78161201C>T	ENST00000216489.3	-	3	350	c.335G>A	c.(334-336)tGg>tAg	p.W112*	ALKBH1_ENST00000554097.1_5'UTR	NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	112					DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		CACCCAGTGCCACTGGTAACC	0.418000													27	51					0	0	0.003954	0	0
MMP21	118856	broad.mit.edu	37	10	127462420	127462420	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr10:127462420A>T	ENST00000368808.3	-	2	676	c.677T>A	c.(676-678)aTc>aAc	p.I226N		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	226					proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GCCCAGCTTGATGTCGACCGC	0.726000													22	41					0	0	0.006320	0	0
NUTM1	256646	broad.mit.edu	37	15	34638159	34638159	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr15:34638159G>T	ENST00000537011.1	+	2	405	c.23G>T	c.(22-24)gGa>gTa	p.G8V	NUTM1_ENST00000333756.4_5'UTR|NUTM1_ENST00000438749.3_Intron					NUT midline carcinoma, family member 1																		CTGGGTCCTGGACCTGACTGC	0.527000													24	44					1.64293e-13	1.91088e-13	0.003330	1	0
MYO7B	4648	broad.mit.edu	37	2	128384629	128384629	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr2:128384629T>A	ENST00000389524.4	+	31	4270	c.4217T>A	c.(4216-4218)cTg>cAg	p.L1406Q	MYO7B_ENST00000428314.1_Missense_Mutation_p.L1406Q|MYO7B_ENST00000409090.1_Missense_Mutation_p.L259Q|MYO7B_ENST00000409816.2_Missense_Mutation_p.L1406Q			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1406	FERM 1.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CAGTGGCCGCTGCTCTTCTCC	0.637000													7	12					0	0	0.003080	0	0
NBEA	26960	broad.mit.edu	37	13	35619136	35619136	+	Silent	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr13:35619136G>A	ENST00000540320.1	+	3	1113	c.579G>A	c.(577-579)aaG>aaA	p.K193K	NBEA_ENST00000379939.2_Silent_p.K193K|NBEA_ENST00000310336.4_Silent_p.K193K|NBEA_ENST00000400445.3_Silent_p.K193K			Q8NFP9	NBEA_HUMAN	neurobeachin	193						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TCACTGTCAAGGAGTTGAAGC	0.418000													9	14					0	0	0.006214	0	0
XYLT1	64131	broad.mit.edu	37	16	17292261	17292261	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr16:17292261T>A	ENST00000261381.6	-	5	1181	c.1097A>T	c.(1096-1098)tAc>tTc	p.Y366F		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	366					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCGATGCAGGTAATTAGAGCG	0.587000													10	17					0	0	0.008291	0	0
PCDHGB4	8641	broad.mit.edu	37	5	140769259	140769259	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr5:140769259C>T	ENST00000519479.1	+	1	1808	c.1808C>T	c.(1807-1809)tCc>tTc	p.S603F	PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTGGCTGTCCTACCACGTG	0.662000													28	21					0	0	0.006320	0	0
CLSTN2	64084	broad.mit.edu	37	3	140281753	140281753	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr3:140281753C>A	ENST00000458420.3	+	14	2503	c.2313C>A	c.(2311-2313)tgC>tgA	p.C771*		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	771					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GGATTAAGTGCTCAGAACTCA	0.562000										HNSCC(16;0.037)			10	38					0.000673444	0.00071013	0.008291	1	0
FOSB	2354	broad.mit.edu	37	19	45971882	45971882	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr19:45971882C>T	ENST00000353609.3	+	1	630	c.38C>T	c.(37-39)tCc>tTc	p.S13F	FOSB_ENST00000585836.1_Missense_Mutation_p.S13F|FOSB_ENST00000592436.1_Missense_Mutation_p.S13F|FOSB_ENST00000590335.1_Missense_Mutation_p.S13F|FOSB_ENST00000443841.2_Missense_Mutation_p.S13F|FOSB_ENST00000591858.1_Missense_Mutation_p.S13F|FOSB_ENST00000417353.2_Missense_Mutation_p.S13F|ERCC1_ENST00000423698.2_Intron	NM_006732.2	NP_006723.2	P53539	FOSB_HUMAN	FBJ murine osteosarcoma viral oncogene homolog B	13					behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	13		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		GACTCCGGCTCCCGGTGCAGC	0.632000													56	66					0	0	0.014410	0	0
VPS72	6944	broad.mit.edu	37	1	151150569	151150569	+	Silent	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr1:151150569C>T	ENST00000354473.4	-	5	651	c.615G>A	c.(613-615)cgG>cgA	p.R205R	VPS72_ENST00000496809.1_5'UTR	NM_001271087.1|NM_005997.1	NP_001258016.1|NP_005988.1	Q15906	VPS72_HUMAN	vacuolar protein sorting 72 homolog (S. cerevisiae)	205					chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CGGGGCACTTCCGCTTCTTAT	0.493000													19	57					0	0	0.006122	0	0
KALRN	8997	broad.mit.edu	37	3	124369736	124369736	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr3:124369736C>T	ENST00000360013.3	+	38	5870	c.5743C>T	c.(5743-5745)Cct>Tct	p.P1915S	KALRN_ENST00000393496.1_Missense_Mutation_p.P256S|KALRN_ENST00000428018.2_Missense_Mutation_p.P186S|KALRN_ENST00000459915.1_Missense_Mutation_p.P7S|KALRN_ENST00000291478.4_Missense_Mutation_p.P218S	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1914					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						ACCCACACCTCCTAAAAACCC	0.542000													23	55					0	0	0.003954	0	0
APLP2	334	broad.mit.edu	37	11	130005458	130005458	+	Splice_Site	SNP	A	A	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr11:130005458A>G	ENST00000263574.5	+	13	1757	c.1684_splice	c.e13-1	p.D562_splice	APLP2_ENST00000345598.5_Splice_Site_p.D333_splice|APLP2_ENST00000338167.5_Splice_Site_p.D562_splice|APLP2_ENST00000278756.7_Splice_Site_p.D572_splice|APLP2_ENST00000543137.1_Splice_Site_p.D469_splice|APLP2_ENST00000528499.1_Splice_Site_p.D506_splice|APLP2_ENST00000539648.1_Splice_Site_p.D350_splice	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	562					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		TCTTCATCAGATGAGCTCCTT	0.587000													45	83					0	0	0.014410	0	0
LRG1	116844	broad.mit.edu	37	19	4538051	4538051	+	Silent	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr19:4538051C>T	ENST00000306390.6	-	2	1405	c.945G>A	c.(943-945)caG>caA	p.Q315Q	CTB-50L17.14_ENST00000586020.1_Intron	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	315	LRRCT.					extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTTTTGGGCCTGAAGCCAAC	0.592000													40	35					0	0	0.005524	0	0
AIDA	64853	broad.mit.edu	37	1	222843263	222843263	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr1:222843263T>C	ENST00000340020.6	-	10	1099	c.893A>G	c.(892-894)cAt>cGt	p.H298R	AIDA_ENST00000355727.2_Missense_Mutation_p.H216R|AIDA_ENST00000541237.1_Missense_Mutation_p.H274R|AIDA_ENST00000474863.1_5'UTR	NM_022831.2	NP_073742.2	Q96BJ3	AIDA_HUMAN	axin interactor, dorsalization associated	298					dorsal/ventral pattern formation|negative regulation of JNK cascade|negative regulation of JUN kinase activity|regulation of protein homodimerization activity					kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10						TTGATGTAGATGAAGATAAAG	0.353000													18	31					0	0	0.003330	0	0
CELSR1	9620	broad.mit.edu	37	22	46931727	46931727	+	Silent	SNP	G	G	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr22:46931727G>T	ENST00000262738.3	-	1	1340	c.1341C>A	c.(1339-1341)atC>atA	p.I447I	CELSR1_ENST00000395964.1_Silent_p.I447I	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	447	Cadherin 2.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CCTCCACCTCGATGTACACGG	0.667000													16	35					1.52009e-12	1.74553e-12	0.003163	1	0
NARG2	79664	broad.mit.edu	37	15	60741642	60741642	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr15:60741642C>G	ENST00000261520.4	-	10	1758	c.1524G>C	c.(1522-1524)ttG>ttC	p.L508F	NARG2_ENST00000439632.1_Missense_Mutation_p.L371F	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2	508						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						CAGATGTTTTCAAGTCACTAT	0.333000													28	51					0	0	0.009535	0	0
RAB3GAP1	22930	broad.mit.edu	37	2	135851202	135851202	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr2:135851202A>T	ENST00000264158.8	+	5	344	c.301A>T	c.(301-303)Atg>Ttg	p.M101L	RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.M101L|RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.M57L	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	101						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		TCCACAATCTATGCAAGATTT	0.348000													21	39					0	0	0.010504	0	0
MARCH10	162333	broad.mit.edu	37	17	60821758	60821758	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr17:60821758C>A	ENST00000544856.2	-	6	889	c.511G>T	c.(511-513)Gtg>Ttg	p.V171L	MARCH10_ENST00000583600.1_Missense_Mutation_p.V210L|MARCH10_ENST00000311269.5_Missense_Mutation_p.V172L|MARCH10_ENST00000456609.2_Missense_Mutation_p.V172L			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	172							ligase activity|zinc ion binding	p.V172L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GGAACCGGCACCTTTGCAGGC	0.557000													52	96					3.89483e-19	4.77601e-19	0.014410	1	0
LCORL	254251	broad.mit.edu	37	4	17910776	17910776	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr4:17910776T>A	ENST00000382226.5	-	5	731	c.623A>T	c.(622-624)gAg>gTg	p.E208V	LCORL_ENST00000326877.3_Missense_Mutation_p.E208V|LCORL_ENST00000382224.1_Missense_Mutation_p.E124V|LCORL_ENST00000539056.1_Missense_Mutation_p.E121V	NM_001166139.1	NP_001159611.1	Q8N3X6	LCORL_HUMAN	ligand dependent nuclear receptor corepressor-like	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						GCCTTCCTGCTCTTCCTGAAG	0.348000													28	42					0	0	0.008361	0	0
CD34	947	broad.mit.edu	37	1	208072364	208072364	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr1:208072364G>A	ENST00000356522.4	-	3	791	c.470C>T	c.(469-471)cCc>cTc	p.P157L	CD34_ENST00000310833.7_Missense_Mutation_p.P157L|CD34_ENST00000537704.1_Intron|CD34_ENST00000485761.1_5'UTR	NM_001773.2	NP_001764.1	P28906	CD34_HUMAN	CD34 molecule	157					cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding	p.P157H(1)		kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						GGGTTTAGTGGGAGATGTTGC	0.468000													78	185					0	0	0.014410	0	0
PPAN	56342	broad.mit.edu	37	19	10225320	10225320	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr19:10225320C>G	ENST00000556468.1	+	13	2318	c.2291C>G	c.(2290-2292)cCa>cGa	p.P764R	P2RY11_ENST00000321826.4_Missense_Mutation_p.P344R|PPAN-P2RY11_ENST00000428358.1_3'UTR|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.P764R					peter pan homolog (Drosophila)											endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			AGCTGGAACCCAGAGGACGCC	0.657000													14	50					0	0	0.001855	0	0
GGNBP2	79893	broad.mit.edu	37	17	34943490	34943490	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr17:34943490C>T	ENST00000304718.4	+	13	2021	c.1705C>T	c.(1705-1707)Cac>Tac	p.H569Y		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	569					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		AAATACCATGCACACAGTGTT	0.463000													14	64					0	0	0.002450	0	0
PDGFRB	5159	broad.mit.edu	37	5	149503837	149503837	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr5:149503837G>T	ENST00000261799.4	-	14	2468	c.1999C>A	c.(1999-2001)Ctg>Atg	p.L667M		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	667	Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCCCCCAACAGGTTGACCACG	0.632000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								19	22					4.35082e-09	4.8722e-09	0.010504	1	0
AGO1	26523	broad.mit.edu	37	1	36372612	36372612	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr1:36372612T>G	ENST00000373204.4	+	12	1687	c.1474T>G	c.(1474-1476)Tat>Gat	p.Y492D	AGO1_ENST00000373206.1_Missense_Mutation_p.Y417D	NM_012199.2	NP_036331.1			argonaute RISC catalytic component 1																		TTTCTGCAAATATGCACAGGG	0.537000													37	52					0	0	0.006999	0	0
DNAH5	1767	broad.mit.edu	37	5	13928288	13928288	+	Splice_Site	SNP	C	C	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr5:13928288C>A	ENST00000265104.4	-	3	297		c.e3-1			NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5						microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTCTTTCAATCTGGGAAAAAG	0.318000									Kartagener syndrome				23	72					3.5997e-14	4.22302e-14	0.014323	1	0
ACAP1	9744	broad.mit.edu	37	17	7251469	7251469	+	Silent	SNP	C	C	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr17:7251469C>G	ENST00000158762.3	+	16	1643	c.1437C>G	c.(1435-1437)gtC>gtG	p.V479V		NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	479	Arf-GAP.|Required for interaction with GULP1.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						TGGGAAATGTCATCATCAACC	0.617000													7	24					0	0	0.001984	0	0
ENPEP	2028	broad.mit.edu	37	4	111398004	111398004	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr4:111398004C>A	ENST00000265162.5	+	1	776	c.434C>A	c.(433-435)cCg>cAg	p.P145Q		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	145					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	ACCCGGCTCCCGGAGCTGAAG	0.627000													51	108					2.52991e-16	3.04713e-16	0.014410	1	0
SPEN	23013	broad.mit.edu	37	1	16254612	16254612	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr1:16254612A>G	ENST00000375759.3	+	11	2081	c.1877A>G	c.(1876-1878)tAt>tGt	p.Y626C		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	626	Arg-rich.|Tyr-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TCCTACGACTATAACCAAGAT	0.398000													19	24					0	0	0.007413	0	0
RCOR1	23186	broad.mit.edu	37	14	103148296	103148296	+	Silent	SNP	A	A	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr14:103148296A>G	ENST00000262241.6	+	3	652	c.426A>G	c.(424-426)caA>caG	p.Q142Q	RCOR1_ENST00000570597.1_Silent_p.Q139Q	NM_015156.3	NP_055971.2	Q9UKL0	RCOR1_HUMAN	REST corepressor 1	139	ELM2.|Interaction with HDAC1.				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						CACCCAATCAAAATCTGTCAG	0.373000													13	18					0	0	0.003163	0	0
SLC27A6	28965	broad.mit.edu	37	5	128302163	128302163	+	Silent	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr5:128302163G>A	ENST00000262462.4	+	1	1343	c.333G>A	c.(331-333)ctG>ctA	p.L111L	SLC27A6_ENST00000395266.1_Silent_p.L111L|SLC27A6_ENST00000506176.1_Silent_p.L111L			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	111					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TGGCTCTGCTGATGAGCAATG	0.552000													13	10					0	0	0.013537	0	0
CUX2	23316	broad.mit.edu	37	12	111746236	111746236	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr12:111746236G>A	ENST00000261726.6	+	14	1318	c.1164G>A	c.(1162-1164)atG>atA	p.M388I		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	388						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CCTAGGGCATGGCCAAGCCTG	0.612000													18	27					0	0	0.006122	0	0
ZNF521	25925	broad.mit.edu	37	18	22807174	22807174	+	Silent	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr18:22807174C>T	ENST00000361524.3	-	4	856	c.708G>A	c.(706-708)agG>agA	p.R236R	ZNF521_ENST00000584787.1_Silent_p.R16R|ZNF521_ENST00000538137.2_Silent_p.R236R	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	236					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AGTCCTCCATCCTGGAACCGG	0.522000			T	PAX5	ALL								13	67					0	0	0.001855	0	0
PRPSAP2	5636	broad.mit.edu	37	17	18833957	18833957	+	Silent	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr17:18833957C>T	ENST00000268835.2	+	12	1339	c.1056C>T	c.(1054-1056)atC>atT	p.I352I	PRPSAP2_ENST00000536323.1_Silent_p.I266I|PRPSAP2_ENST00000419071.2_Silent_p.I312I|PRPSAP2_ENST00000542013.1_Silent_p.I303I	NM_002767.3	NP_002758.1	O60256	KPRB_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 2	352					nucleotide biosynthetic process		enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						TCCGTCGGATCCACAATGGGG	0.458000													12	23					0	0	0.013537	0	0
TMEM67	91147	broad.mit.edu	37	8	94821068	94821068	+	Splice_Site	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr8:94821068G>A	ENST00000453321.3	+	24	2498	c.2439_splice	c.e24-1	p.E814_splice	TMEM67_ENST00000409623.3_Splice_Site_p.E733_splice	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	814					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			AACTTTTCAGGAAAATTTGTG	0.308000													4	18					0	0	0.000602	0	0
SYK	6850	broad.mit.edu	37	9	93650843	93650843	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr9:93650843G>A	ENST00000375754.4	+	13	1917	c.1769G>A	c.(1768-1770)cGg>cAg	p.R590Q	SYK_ENST00000375746.1_Missense_Mutation_p.R590Q|SYK_ENST00000375751.4_Missense_Mutation_p.R567Q|SYK_ENST00000375747.1_Missense_Mutation_p.R567Q	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	590	Protein kinase.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						AAAGGAGAGCGGATGGGGTGC	0.438000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""								6	16					0	0	0.001984	0	0
FAM189B	10712	broad.mit.edu	37	1	155223908	155223908	+	Silent	SNP	A	A	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr1:155223908A>T	ENST00000361361.2	-	3	869	c.360T>A	c.(358-360)gcT>gcA	p.A120A	FAM189B_ENST00000368368.3_Silent_p.A101A|FAM189B_ENST00000350210.2_Intron|FAM189B_ENST00000472550.1_Intron	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	120						integral to membrane	WW domain binding			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						GGGCCAGTTGAGCATTCTTAC	0.532000													83	111					0	0	0.014410	0	0
SEZ6	124925	broad.mit.edu	37	17	27283247	27283247	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr17:27283247C>G	ENST00000317338.12	-	16	3310	c.2882G>C	c.(2881-2883)cGc>cCc	p.R961P	SEZ6_ENST00000442608.3_Missense_Mutation_p.R948P|SEZ6_ENST00000335960.6_Silent_p.P493P|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000360295.9_Missense_Mutation_p.R961P			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	961						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			ggggcgggggcggggCAGCTG	0.582000													3	13					0	0	0.004672	0	0
GPR75	10936	broad.mit.edu	37	2	54080317	54080317	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr2:54080317T>C	ENST00000394705.2	-	2	1847	c.1577A>G	c.(1576-1578)gAa>gGa	p.E526G	ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	526						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GCTGTCATATTCCTGCACTAA	0.408000													29	70					0	0	0.008361	0	0
NUTM1	256646	broad.mit.edu	37	15	34640628	34640628	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr15:34640628C>T	ENST00000537011.1	+	3	941	c.559C>T	c.(559-561)Ccg>Tcg	p.P187S	NUTM1_ENST00000333756.4_Missense_Mutation_p.P159S|NUTM1_ENST00000438749.3_Missense_Mutation_p.P177S					NUT midline carcinoma, family member 1																		TCCAGGCCTTCCGCCTCAGCC	0.587000													11	28					0	0	0.008291	0	0
GULP1	51454	broad.mit.edu	37	2	189458684	189458684	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr2:189458684A>T	ENST00000409843.1	+	13	1541	c.872A>T	c.(871-873)gAc>gTc	p.D291V	GULP1_ENST00000409609.1_Silent_p.G287G|GULP1_ENST00000409805.1_Silent_p.G184G|GULP1_ENST00000359135.3_Silent_p.G287G|GULP1_ENST00000409580.1_Silent_p.G287G|GULP1_ENST00000409830.1_Silent_p.G287G	NM_001252668.1|NM_016315.3	NP_001239597.1|NP_057399.1	Q9UBP9	GULP1_HUMAN	GULP, engulfment adaptor PTB domain containing 1	0					apoptosis|lipid transport|phagocytosis, engulfment	cytoplasm|intracellular membrane-bounded organelle	signal transducer activity			endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)			TCAAAATGGGACTAACTCTTG	0.338000													9	26					0	0	0.008291	0	0
ANKRD26	22852	broad.mit.edu	37	10	27366291	27366291	+	Silent	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr10:27366291C>T	ENST00000376087.4	-	9	1218	c.1053G>A	c.(1051-1053)tcG>tcA	p.S351S	ANKRD26_ENST00000436985.2_Silent_p.S400S|ANKRD26_ENST00000466890.1_5'UTR	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	351						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						GGTTTGCTAACGACTTGTGGG	0.403000													38	58					0	0	0.006999	0	0
RNF10	9921	broad.mit.edu	37	12	121000765	121000765	+	Silent	SNP	G	G	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr12:121000765G>T	ENST00000325954.4	+	8	1607	c.1146G>T	c.(1144-1146)ctG>ctT	p.L382L	RNF10_ENST00000413266.2_Silent_p.L382L	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	382					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AAGAGGCTCTGTCGGGATTGG	0.537000													30	48					6.00712e-18	7.30014e-18	0.012213	1	0
OR11H4	390442	broad.mit.edu	37	14	20711094	20711094	+	Silent	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr14:20711094C>T	ENST00000315409.2	+	1	197	c.144C>T	c.(142-144)acC>acT	p.T48T		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		ATGTCTTGACCTTGCTGGGAA	0.443000													30	60					0	0	0.006320	0	0
HTR7	3363	broad.mit.edu	37	10	92509226	92509226	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr10:92509226G>C	ENST00000371721.3	-	2	907	c.665C>G	c.(664-666)gCt>gGt	p.A222G	HTR7_ENST00000277874.6_Missense_Mutation_p.A222G|HTR7_ENST00000371719.2_Missense_Mutation_p.A222G|HTR7_ENST00000336152.3_Missense_Mutation_p.A222G			P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	222					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	TACATTCTGAGCCCATCCAAA	0.483000													40	58					0	0	0.009718	0	0
TRPM7	54822	broad.mit.edu	37	15	50906378	50906378	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr15:50906378C>T	ENST00000313478.7	-	14	1858	c.1577G>A	c.(1576-1578)tGc>tAc	p.C526Y	TRPM7_ENST00000560955.1_Missense_Mutation_p.C526Y	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	526					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		AGTATAGGTGCATCTGTAGGT	0.328000													19	39					0	0	0.008871	0	0
COL6A3	1293	broad.mit.edu	37	2	238287849	238287849	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr2:238287849G>C	ENST00000295550.4	-	6	2379	c.1927C>G	c.(1927-1929)Ctt>Gtt	p.L643V	COL6A3_ENST00000353578.4_Missense_Mutation_p.L437V|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000409809.1_Missense_Mutation_p.L437V|COL6A3_ENST00000392004.3_Missense_Mutation_p.L437V|COL6A3_ENST00000347401.3_Missense_Mutation_p.L442V|COL6A3_ENST00000346358.4_Intron|COL6A3_ENST00000392003.2_Missense_Mutation_p.L236V	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	643	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCATCCAAAAGAAAGATGATA	0.388000													11	24					0	0	0.008291	0	0
GPC6	10082	broad.mit.edu	37	13	95055462	95055462	+	Silent	SNP	G	G	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr13:95055462G>T	ENST00000377047.4	+	9	2274	c.1659G>T	c.(1657-1659)ctG>ctT	p.L553L		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	553						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				TGCAGAGACTGTGCAGATAAT	0.517000													6	41					8.12818e-05	8.63819e-05	0.001984	1	0
SYNCRIP	10492	broad.mit.edu	37	6	86324795	86324795	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr6:86324795G>A	ENST00000503906.1	-	1	157	c.158C>T	c.(157-159)cCc>cTc	p.P53L	SYNCRIP_ENST00000355238.6_Silent_p.P517P|SYNCRIP_ENST00000369622.3_Silent_p.P517P																							CTCTACCGCGGGGAGGAGCAG	0.577000													85	45					0	0	0.014410	0	0
STAG1	10274	broad.mit.edu	37	3	136141433	136141433	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr3:136141433T>C	ENST00000383202.2	-	19	2112	c.1856A>G	c.(1855-1857)cAg>cGg	p.Q619R	STAG1_ENST00000536929.1_Missense_Mutation_p.Q203R|STAG1_ENST00000236698.5_Missense_Mutation_p.Q619R|STAG1_ENST00000434713.2_Missense_Mutation_p.Q393R	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	619					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						AAACTTAATCTGTTTTAATAA	0.308000													21	52					0	0	0.008871	0	0
CDX1	1044	broad.mit.edu	37	5	149562339	149562339	+	Silent	SNP	C	C	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr5:149562339C>A	ENST00000231656.8	+	2	536	c.454C>A	c.(454-456)Cgg>Agg	p.R152R		NM_001804.2	NP_001795.2	P47902	CDX1_HUMAN	caudal type homeobox 1	152						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|lung(1)|ovary(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGTAAGACTCGGACCAAGGA	0.557000													97	73					9.72315e-31	1.21427e-30	0.014410	1	0
CSGALNACT2	55454	broad.mit.edu	37	10	43650762	43650762	+	Silent	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr10:43650762G>A	ENST00000374466.3	+	2	500	c.165G>A	c.(163-165)gaG>gaA	p.E55E	CSGALNACT2_ENST00000374464.1_Silent_p.E55E	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	55					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ATGGTAAAGAGTATTATCAAG	0.418000													15	44					0	0	0.003163	0	0
DOCK8	81704	broad.mit.edu	37	9	289552	289552	+	Silent	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr9:289552C>T	ENST00000432829.2	+	4	487	c.171C>T	c.(169-171)taC>taT	p.Y57Y	DOCK8_ENST00000469391.1_Silent_p.Y57Y|DOCK8_ENST00000453981.1_Silent_p.Y125Y	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	125					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TTCAGACCTACATCCGTGAGT	0.333000													9	47					0	0	0.013537	0	0
MCF2L2	23101	broad.mit.edu	37	3	182897459	182897459	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr3:182897459C>T	ENST00000328913.3	-	29	3424	c.3127G>A	c.(3127-3129)Gac>Aac	p.D1043N	MCF2L2_ENST00000473233.1_Missense_Mutation_p.D1043N	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	1043					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TGACTGTCGTCCGACTGGAAA	0.587000													85	82					0	0	0.014410	0	0
MYEOV2	150678	broad.mit.edu	37	2	241069334	241069334	+	Silent	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr2:241069334C>T	ENST00000307266.3	-	4	374	c.375G>A	c.(373-375)tcG>tcA	p.S125S		NM_138336.1	NP_612209.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2	0										breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		TTACCTCTTCCGACACCACAG	0.617000													34	65					0	0	0.006230	0	0
NAV2	89797	broad.mit.edu	37	11	20083856	20083856	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr11:20083856A>G	ENST00000396085.1	+	20	5196	c.4835A>G	c.(4834-4836)cAt>cGt	p.H1612R	NAV2_ENST00000396087.3_Missense_Mutation_p.H1668R|NAV2_ENST00000349880.4_Missense_Mutation_p.H1612R|NAV2_ENST00000527559.2_Missense_Mutation_p.H1597R|NAV2_ENST00000540292.1_Missense_Mutation_p.H1599R|NAV2_ENST00000533917.1_Missense_Mutation_p.H676R|NAV2_ENST00000311043.8_Missense_Mutation_p.H676R|NAV2_ENST00000360655.4_Missense_Mutation_p.H1548R	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1668	Ser-rich.					nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TTAATAGTTCATGGATCCTCA	0.423000													11	50					0	0	0.013537	0	0
NR2F1	7025	broad.mit.edu	37	5	92923999	92923999	+	Silent	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr5:92923999C>T	ENST00000327111.3	+	2	2527	c.840C>T	c.(838-840)gcC>gcT	p.A280A		NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	280					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		TGGCCGCCGCCGGCCTGCATG	0.667000													25	23					0	0	0.004656	0	0
TRPM7	54822	broad.mit.edu	37	15	50906377	50906377	+	Silent	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr15:50906377G>A	ENST00000313478.7	-	14	1859	c.1578C>T	c.(1576-1578)tgC>tgT	p.C526C	TRPM7_ENST00000560955.1_Silent_p.C526C	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	526					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TAGTATAGGTGCATCTGTAGG	0.323000													18	38					0	0	0.007413	0	0
APLP1	333	broad.mit.edu	37	19	36368688	36368688	+	Missense_Mutation	SNP	G	G	A	rs142258705		TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr19:36368688G>A	ENST00000221891.4	+	12	1705	c.1513G>A	c.(1513-1515)Gag>Aag	p.E505K	APLP1_ENST00000537454.2_Missense_Mutation_p.E466K|APLP1_ENST00000586861.1_Missense_Mutation_p.E499K|APLP1_ENST00000589298.2_3'UTR	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	505					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGGCAGCAGCGAGGACAAGGG	0.582000													17	44					0	0	0.006122	0	0
EYS	346007	broad.mit.edu	37	6	66205124	66205124	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr6:66205124C>A	ENST00000503581.1	-	4	717	c.180G>T	c.(178-180)ttG>ttT	p.L60F	EYS_ENST00000393380.2_Missense_Mutation_p.L60F|EYS_ENST00000370618.3_Missense_Mutation_p.L60F|EYS_ENST00000370621.3_Missense_Mutation_p.L60F|EYS_ENST00000342421.5_Missense_Mutation_p.L60F|EYS_ENST00000370616.2_Missense_Mutation_p.L60F	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	60					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TGTTTACACCCAAAAACCAGC	0.388000													15	75					1.3612e-06	1.49954e-06	0.003163	1	0
SLC16A6	9120	broad.mit.edu	37	17	66267356	66267356	+	Silent	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr17:66267356G>A	ENST00000327268.4	-	6	1109	c.945C>T	c.(943-945)atC>atT	p.I315I	ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Silent_p.I315I	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	315						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	CCAGAGGAATGATGTACAAGG	0.423000													12	24					0	0	0.010729	0	0
RYR2	6262	broad.mit.edu	37	1	237802492	237802492	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr1:237802492G>T	ENST00000366574.2	+	46	7423	c.7106G>T	c.(7105-7107)aGt>aTt	p.S2369I	RYR2_ENST00000542537.1_Missense_Mutation_p.S2353I|RYR2_ENST00000360064.6_Missense_Mutation_p.S2367I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2369	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGCGGATCCAGTAAAACACTG	0.418000													7	20					2.0095e-06	2.18704e-06	0.001984	1	0
TRIOBP	11078	broad.mit.edu	37	22	38119801	38119801	+	Missense_Mutation	SNP	A	A	G	rs71317064		TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr22:38119801A>G	ENST00000406386.3	+	7	1493	c.1238A>G	c.(1237-1239)aAa>aGa	p.K413R	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	413					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	p.K413R(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GACAATCCCAAAGCCTCCAGA	0.582000													4	159					0	0	0.001168	0	0
NSD1	64324	broad.mit.edu	37	5	176709523	176709523	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr5:176709523C>T	ENST00000439151.2	+	19	5995	c.5950C>T	c.(5950-5952)Cga>Tga	p.R1984*	NSD1_ENST00000354179.4_Nonsense_Mutation_p.R1715*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.R1715*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.R1881*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1984	SET.		R -> Q (in SOTOSS; loss of enzyme activity).		negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ATGCAGAGCTCGAATTCGCTA	0.373000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			38	28					0	0	0.005524	0	0
MARCH4	57574	broad.mit.edu	37	2	217124378	217124378	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr2:217124378G>A	ENST00000273067.4	-	4	2656	c.890C>T	c.(889-891)tCg>tTg	p.S297L	AC012513.6_ENST00000417481.1_RNA	NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	297						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		GCGGTACACCGAGGGTCCTTC	0.537000													23	25					0	0	0.003954	0	0
RCHY1	25898	broad.mit.edu	37	4	76407873	76407873	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr4:76407873G>C	ENST00000324439.5	-	9	1059	c.661C>G	c.(661-663)Ctc>Gtc	p.L221V	RCHY1_ENST00000512706.1_Missense_Mutation_p.L199V|RCHY1_ENST00000451788.1_3'UTR|RCHY1_ENST00000513257.1_Missense_Mutation_p.L212V|RCHY1_ENST00000380840.2_Missense_Mutation_p.L181V	NM_001278536.1|NM_001278538.1|NM_001278539.1	NP_001265465.1|NP_001265467.1|NP_001265468.1	Q96PM5	ZN363_HUMAN	ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase	221					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nuclear speck|ubiquitin ligase complex	electron carrier activity|p53 binding|protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding	p.L221I(1)		large_intestine(2)|pancreas(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TCATTGCAGAGAATCTGAAAA	0.318000													7	17					0	0	0.001984	0	0
CNTROB	116840	broad.mit.edu	37	17	7839728	7839728	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr17:7839728G>C	ENST00000380262.3	+	5	1564	c.639G>C	c.(637-639)gaG>gaC	p.E213D	CNTROB_ENST00000380255.3_Missense_Mutation_p.E213D|CNTROB_ENST00000563694.1_Missense_Mutation_p.E213D|CNTROB_ENST00000565740.1_Missense_Mutation_p.E213D	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	213					centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				GAGTGTTAGAGCTACAGCAAC	0.527000													38	98					0	0	0.006230	0	0
SELPLG	6404	broad.mit.edu	37	12	109017613	109017613	+	Silent	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr12:109017613C>T	ENST00000388962.3	-	3	600	c.441G>A	c.(439-441)acG>acA	p.T147T	SELPLG_ENST00000228463.6_Silent_p.T173T|SELPLG_ENST00000550948.1_Silent_p.T157T	NM_003006.4	NP_002997.2	Q14242	SELPL_HUMAN	selectin P ligand	157	12 X 10 AA tandem repeats.				blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						CCTCCGTGGCCGTCAGTCGAG	0.637000													53	78					0	0	0.014410	0	0
NCBP1	4686	broad.mit.edu	37	9	100403139	100403139	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr9:100403139C>G	ENST00000375147.3	+	2	354	c.98C>G	c.(97-99)tCt>tGt	p.S33C		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	33	MIF4G.				gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding	p.S33F(1)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				CATTTGGAATCTTTAATATGT	0.358000													28	51					0	0	0.007291	0	0
SMARCA1	6594	broad.mit.edu	37	X	128599869	128599869	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chrX:128599869T>G	ENST00000371122.4	-	22	2898	c.2769A>C	c.(2767-2769)gaA>gaC	p.E923D	SMARCA1_ENST00000371123.1_Missense_Mutation_p.E911D|SMARCA1_ENST00000371121.3_Missense_Mutation_p.E911D	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	923					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						GAATTCTTGCTTCTCCACGTT	0.333000													29	21					0	0	0.007291	0	0
COL14A1	7373	broad.mit.edu	37	8	121256222	121256222	+	Silent	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr8:121256222C>T	ENST00000297848.3	+	20	2724	c.2454C>T	c.(2452-2454)gtC>gtT	p.V818V	COL14A1_ENST00000309791.4_Silent_p.V818V|COL14A1_ENST00000247781.3_Silent_p.V723V|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	818	Fibronectin type-III 6.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GCGAAGGCGTCAGCGTCTCCG	0.498000													15	153					0	0	0.003163	0	0
PCDHGC3	5098	broad.mit.edu	37	5	140857945	140857945	+	Silent	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr5:140857945G>A	ENST00000308177.3	+	1	2366	c.2262G>A	c.(2260-2262)ccG>ccA	p.P754P	PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGATGTCGCCGCACCTTTACC	0.642000											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	51	37					0	0	0.014410	0	0
CTSA	5476	broad.mit.edu	37	20	44519983	44519983	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr20:44519983G>C	ENST00000372484.3	+	1	301	c.19G>C	c.(19-21)Gcg>Ccg	p.A7P	CTSA_ENST00000354880.5_Missense_Mutation_p.A7P|CTSA_ENST00000191018.5_5'UTR	NM_000308.2|NM_001127695.1	NP_000299.2|NP_001121167.1	P10619	PPGB_HUMAN	cathepsin A	0					intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				CAGTCCCCGGGCGCCTCCTGG	0.692000													4	2					0	0	0.001168	0	0
GPR98	84059	broad.mit.edu	37	5	90106737	90106737	+	Silent	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr5:90106737C>T	ENST00000405460.2	+	74	15756	c.15660C>T	c.(15658-15660)ttC>ttT	p.F5220F	GPR98_ENST00000425867.2_Silent_p.F881F	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5220					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATGGAACATTCAGCCTTGGGC	0.463000													28	32					0	0	0.005443	0	0
TTC16	158248	broad.mit.edu	37	9	130482360	130482360	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr9:130482360C>T	ENST00000373289.3	+	5	510	c.430C>T	c.(430-432)Caa>Taa	p.Q144*	TTC16_ENST00000393748.4_5'UTR|PTRH1_ENST00000429848.1_Intron|PTRH1_ENST00000419060.1_Intron	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	144							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						TCCCCAGGGACAATGCCTTTT	0.577000													45	51					0	0	0.010771	0	0
EPHA6	285220	broad.mit.edu	37	3	97439174	97439174	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr3:97439174G>C	ENST00000389672.5	+	15	2892	c.2854G>C	c.(2854-2856)Gat>Cat	p.D952H		NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	857						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CTCAGCAAGCGATGCATGGAG	0.463000													45	60					0	0	0.014410	0	0
FAT1	2195	broad.mit.edu	37	4	187538253	187538253	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr4:187538253A>C	ENST00000441802.2	-	11	9190	c.8981T>G	c.(8980-8982)cTt>cGt	p.L2994R		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2994	Cadherin 27.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CGTGATAGTAAGAAGGTAATT	0.413000										HNSCC(5;0.00058)			13	23					0	0	0.013537	0	0
MAGEL2	54551	broad.mit.edu	37	15	23890016	23890016	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr15:23890016C>T	ENST00000532292.1	-	1	1159	c.1065G>A	c.(1063-1065)tgG>tgA	p.W355*		NM_019066.4	NP_061939.3			MAGE-like 2									p.W387L(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		TGGGCCCTTCCCAGCCACTCA	0.672000													19	29					0	0	0.006122	0	0
DPYD	1806	broad.mit.edu	37	1	97915726	97915726	+	Silent	SNP	G	G	C			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr1:97915726G>C	ENST00000370192.3	-	14	1894	c.1794C>G	c.(1792-1794)ccC>ccG	p.P598P		NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	598					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	GGCCATACATGGGGCCAGAGG	0.448000													28	52					0	0	0.005443	0	0
ULBP2	80328	broad.mit.edu	37	6	150263229	150263229	+	Silent	SNP	C	C	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr6:150263229C>A	ENST00000367351.3	+	1	94	c.21C>A	c.(19-21)acC>acA	p.T7T		NM_025217.2	NP_079493.1	Q9BZM5	N2DL2_HUMAN	UL16 binding protein 2	7					antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|cell surface|extracellular space|MHC class I protein complex	MHC class I receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		CCGCCGCTACCAAGATCCTTC	0.607000													18	7					1.33834e-09	1.51121e-09	0.007413	1	0
ARHGEF7	8874	broad.mit.edu	37	13	111919973	111919973	+	Silent	SNP	T	T	C			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr13:111919973T>C	ENST00000375741.2	+	10	1342	c.1092T>C	c.(1090-1092)taT>taC	p.Y364Y	ARHGEF7_ENST00000375739.2_Silent_p.Y314Y|ARHGEF7_ENST00000544132.1_Silent_p.L67L|ARHGEF7_ENST00000483189.1_3'UTR|ARHGEF7_ENST00000317133.5_Silent_p.Y343Y|ARHGEF7_ENST00000426073.2_Silent_p.Y186Y|ARHGEF7_ENST00000478679.1_Silent_p.Y108Y|ARHGEF7_ENST00000370623.3_Silent_p.Y271Y|ARHGEF7_ENST00000375723.1_Silent_p.Y186Y|ARHGEF7_ENST00000218789.5_Silent_p.Y186Y|ARHGEF7_ENST00000375736.4_Silent_p.Y186Y|ARHGEF7_ENST00000375737.5_Silent_p.Y261Y	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	364	DH.				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			ACCTCACGTATTGTGCCAATC	0.532000													30	60					0	0	0.006320	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110461669	110461669	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr8:110461669T>A	ENST00000378402.5	+	40	6232	c.6128T>A	c.(6127-6129)cTt>cAt	p.L2043H		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2043	IPT/TIG 13.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATTGACAGGCTTAGATCTGAT	0.353000										HNSCC(38;0.096)			5	5					0	0	0.001984	0	0
FBXL19	54620	broad.mit.edu	37	16	30958233	30958233	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr16:30958233C>G	ENST00000338343.4	+	10	2197	c.1810C>G	c.(1810-1812)Cca>Gca	p.P604A	FBXL19_ENST00000380310.2_Missense_Mutation_p.P624A|FBXL19_ENST00000471231.2_Missense_Mutation_p.P312A|FBXL19_ENST00000565690.1_Missense_Mutation_p.P488A|FBXL19_ENST00000562319.1_Missense_Mutation_p.P604A			Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	624							DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						CCCCACGTCCCCACTCCGCGA	0.682000													5	14					0	0	0.001168	0	0
WDR66	144406	broad.mit.edu	37	12	122361573	122361573	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr12:122361573G>A	ENST00000288912.4	+	3	1278	c.424G>A	c.(424-426)Gat>Aat	p.D142N	WDR66_ENST00000397454.2_Missense_Mutation_p.D142N	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	142							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		ACAATTGGAGGATGCAGAAAC	0.363000													23	61					0	0	0.003330	0	0
SORL1	6653	broad.mit.edu	37	11	121444948	121444948	+	Splice_Site	SNP	A	A	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr11:121444948A>T	ENST00000260197.7	+	24	3466		c.e24-1		SORL1_ENST00000525532.1_Splice_Site	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing						cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		ATCCCATTTTAGCTACCACCA	0.418000													52	107					0	0	0.014410	0	0
PLEKHH3	79990	broad.mit.edu	37	17	40823110	40823110	+	Silent	SNP	C	C	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr17:40823110C>G	ENST00000293349.6	-	9	1753	c.1323G>C	c.(1321-1323)cgG>cgC	p.R441R	PLEKHH3_ENST00000591022.1_Silent_p.R441R|PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000412503.1_Silent_p.R441R			Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	441	FERM.				signal transduction	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		CGTTGCGGCTCCGGGCCAAGC	0.667000													33	56					0	0	0.013726	0	0
UBE4A	9354	broad.mit.edu	37	11	118267059	118267059	+	Silent	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr11:118267059C>T	ENST00000252108.3	+	20	3236	c.3105C>T	c.(3103-3105)ccC>ccT	p.P1035P	UBE4A_ENST00000431736.2_Silent_p.P1042P|UBE4A_ENST00000545354.1_Silent_p.P507P	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	1035	U-box.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		ACCGTAGTCCCCTCACCATGG	0.423000													22	41					0	0	0.003330	0	0
GRAP2	9402	broad.mit.edu	37	22	40364132	40364132	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr22:40364132G>T	ENST00000344138.4	+	6	809	c.546G>T	c.(544-546)atG>atT	p.M182I	GRAP2_ENST00000399090.2_Missense_Mutation_p.M69I|GRAP2_ENST00000540310.1_Missense_Mutation_p.M116I|GRAP2_ENST00000407075.3_Missense_Mutation_p.M182I|GRAP2_ENST00000544756.1_Missense_Mutation_p.M110I|GRAP2_ENST00000543252.1_Missense_Mutation_p.M142I	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	182					cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						GACCTTCGATGAACCGGAAGC	0.657000													8	10					0.00448238	0.00470824	0.004482	1	0
KRT78	196374	broad.mit.edu	37	12	53241878	53241878	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr12:53241878C>T	ENST00000359499.4	-	2	93	c.82G>A	c.(82-84)Gtc>Atc	p.V28I	KRT78_ENST00000304620.4_Missense_Mutation_p.V138I			Q8N1N4	K2C78_HUMAN	keratin 78	138	Gly-rich.|Head.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						GTCTCCAGGACCTTGTTCTGC	0.597000													11	32					0	0	0.008291	0	0
OR5D16	390144	broad.mit.edu	37	11	55606573	55606573	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr11:55606573C>G	ENST00000378396.1	+	1	346	c.346C>G	c.(346-348)Cta>Gta	p.L116V		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TGAATTAATTCTATTTGCGGT	0.438000													47	84					0	0	0.011902	0	0
MMP21	118856	broad.mit.edu	37	10	127462419	127462419	+	Silent	SNP	G	G	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr10:127462419G>T	ENST00000368808.3	-	2	677	c.678C>A	c.(676-678)atC>atA	p.I226I		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	226					proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AGCCCAGCTTGATGTCGACCG	0.726000													23	40					1.75199e-13	2.02901e-13	0.007291	1	0
MYO16	23026	broad.mit.edu	37	13	109475526	109475526	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr13:109475526T>A	ENST00000356711.2	+	9	1057	c.931T>A	c.(931-933)Tgg>Agg	p.W311R	MYO16_ENST00000357550.2_Missense_Mutation_p.W311R|MYO16_ENST00000251041.5_Missense_Mutation_p.W311R	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	311					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CGAAATTGCCTGGGAAGAAAA	0.393000													48	141					0	0	0.014410	0	0
HIST1H3H	8357	broad.mit.edu	37	6	27778004	27778004	+	Silent	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr6:27778004G>A	ENST00000369163.2	+	1	163	c.153G>A	c.(151-153)gaG>gaA	p.E51E		NM_003536.2	NP_003527.1	P68431	H31_HUMAN	histone cluster 1, H3h	51					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)|upper_aerodigestive_tract(3)	10						CTCTCCGCGAGATTCGCCGCT	0.627000													29	53					0	0	0.006320	0	0
DOCK9	23348	broad.mit.edu	37	13	99566619	99566619	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr13:99566619C>T	ENST00000376460.1	-	9	1003	c.923G>A	c.(922-924)gGt>gAt	p.G308D	DOCK9_ENST00000442173.1_Missense_Mutation_p.G308D|DOCK9_ENST00000339416.2_Missense_Mutation_p.G309D|DOCK9_ENST00000448493.2_Missense_Mutation_p.G320D	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	309					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TAAACCGGAACCAGAACCTTC	0.393000													5	13					0	0	0.000602	0	0
PRDM14	63978	broad.mit.edu	37	8	70978695	70978695	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr8:70978695C>T	ENST00000276594.2	-	5	1159	c.958G>A	c.(958-960)Ggt>Agt	p.G320S		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	320	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			TTCCCCGTACCTCCTTTTCCA	0.408000													36	50					0	0	0.006230	0	0
C1orf168	199920	broad.mit.edu	37	1	57257988	57257988	+	Silent	SNP	G	G	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr1:57257988G>T	ENST00000343433.6	-	2	578	c.498C>A	c.(496-498)gcC>gcA	p.A166A	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	166										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						CCAGATGGATGGCCTTACTTC	0.483000													37	62					1.836e-18	2.24125e-18	0.003755	1	0
OTOF	9381	broad.mit.edu	37	2	26702480	26702480	+	Silent	SNP	G	G	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr2:26702480G>T	ENST00000272371.2	-	17	2080	c.1954C>A	c.(1954-1956)Cgg>Agg	p.R652R	OTOF_ENST00000403946.3_Silent_p.R652R	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	652					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCGAGGCCGCTGGGGCCGG	0.642000													22	38					2.44723e-14	2.88348e-14	0.004656	1	0
SMG7	9887	broad.mit.edu	37	1	183518407	183518407	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr1:183518407G>T	ENST00000367537.3	+	20	3101	c.2906G>T	c.(2905-2907)gGa>gTa	p.G969V	SMG7_ENST00000515829.2_Missense_Mutation_p.G890V|SMG7_ENST00000507469.1_Missense_Mutation_p.G940V|SMG7_ENST00000456731.2_Missense_Mutation_p.G848V|SMG7_ENST00000508461.1_Missense_Mutation_p.G944V|SMG7_ENST00000347615.2_Missense_Mutation_p.G936V			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	936	Ser-rich.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						TCCCTCACCGGATTCTCTCTC	0.403000													18	26					0.000132079	0.000139818	0.008871	1	0
GABRA3	2556	broad.mit.edu	37	X	151336735	151336735	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chrX:151336735C>T	ENST00000370314.4	-	10	1682	c.1444G>A	c.(1444-1446)Gag>Aag	p.E482K	RP11-329E24.6_ENST00000453915.1_RNA|GABRA3_ENST00000370311.1_Missense_Mutation_p.E482K|GABRA3_ENST00000535043.1_Missense_Mutation_p.E482K	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	482					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ATAGCTGACTCCCGGTTGACA	0.498000													35	13					0	0	0.003271	0	0
LAPTM5	7805	broad.mit.edu	37	1	31210496	31210496	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr1:31210496C>A	ENST00000294507.3	-	6	635	c.561G>T	c.(559-561)atG>atT	p.M187I		NM_006762.2	NP_006753.1	Q13571	LAPM5_HUMAN	lysosomal protein transmembrane 5	187					transport	integral to plasma membrane|lysosomal membrane		p.M187I(1)		large_intestine(2)|lung(7)|skin(1)	10		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		AGATGATCATCATCTTGATGA	0.522000													23	45					7.07758e-08	7.93374e-08	0.004656	1	0
KRT25	147183	broad.mit.edu	37	17	38910653	38910653	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr17:38910653T>G	ENST00000312150.4	-	2	557	c.497A>C	c.(496-498)gAt>gCt	p.D166A		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	166	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				TCTGAAATCATCAGCTGTAAG	0.383000													29	67					0	0	0.005443	0	0
ZNF134	7693	broad.mit.edu	37	19	58132578	58132578	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr19:58132578G>T	ENST00000396161.5	+	3	1401	c.1091G>T	c.(1090-1092)aGg>aTg	p.R364M		NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	364						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GCACACCAGAGGGTTCACACT	0.438000													39	36					2.51541e-25	3.1218e-25	0.004878	1	0
DNAH8	1769	broad.mit.edu	37	6	38885712	38885712	+	Silent	SNP	A	A	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr6:38885712A>G	ENST00000359357.3	+	68	9923	c.9669A>G	c.(9667-9669)gcA>gcG	p.A3223A	DNAH8_ENST00000449981.2_Silent_p.A3440A|DNAH8_ENST00000441566.1_Silent_p.A3187A					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGATGAGTGCAACAGGATTCC	0.333000													3	43					0	0	0.009096	0	0
CSPG4	1464	broad.mit.edu	37	15	75983101	75983101	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr15:75983101G>A	ENST00000308508.5	-	3	397	c.305C>T	c.(304-306)aCg>aTg	p.T102M		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	102	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 1.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	p.T102M(1)		breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						ACTCAGCAGCGTCTCTGCTGG	0.582000													29	66					0	0	0.003271	0	0
OS9	10956	broad.mit.edu	37	12	58088661	58088661	+	Silent	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr12:58088661G>A	ENST00000315970.7	+	2	332	c.291G>A	c.(289-291)ggG>ggA	p.G97G	OS9_ENST00000552285.1_Silent_p.G97G|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000551035.1_Silent_p.G97G|OS9_ENST00000413095.2_Silent_p.G97G|OS9_ENST00000389142.5_Silent_p.G97G|OS9_ENST00000389146.6_Silent_p.G97G|OS9_ENST00000439210.2_Intron|OS9_ENST00000257966.8_Silent_p.G97G|OS9_ENST00000435406.2_Silent_p.G97G	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	97					ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			AAGGGCCTGGGATCCCTGAGT	0.522000													20	41					0	0	0.008871	0	0
HNF1A	6927	broad.mit.edu	37	12	121434487	121434487	+	Silent	SNP	T	T	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr12:121434487T>A	ENST00000257555.6	+	6	1477	c.1251T>A	c.(1249-1251)ggT>ggA	p.G417G	HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000544413.1_Silent_p.G417G|HNF1A_ENST00000543427.1_Silent_p.G300G|HNF1A_ENST00000402929.1_Silent_p.G417G|HNF1A_ENST00000400024.2_Silent_p.G417G|HNF1A_ENST00000541395.1_Silent_p.G417G			P20823	HNF1A_HUMAN	HNF1 homeobox A	417					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCGGGCCTGGTGAGCCTGCCT	0.632000									Hepatic Adenoma, Familial Clustering of				19	32					0	0	0.014323	0	0
CR1	1378	broad.mit.edu	37	1	207760880	207760880	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr1:207760880G>A	ENST00000367049.4	+	34	5680	c.5680G>A	c.(5680-5682)Gtc>Atc	p.V1894I	CR1_ENST00000367051.1_Missense_Mutation_p.V1444I|CR1_ENST00000367052.1_Missense_Mutation_p.V1444I|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367053.1_Missense_Mutation_p.V1444I|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000400960.2_Missense_Mutation_p.V1444I	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1444	Sushi 29.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AGAAAACTTGGTCTGGTCAAG	0.453000													45	81					0	0	0.014410	0	0
LINC00521	256369	broad.mit.edu	37	14	94464411	94464411	+	RNA	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr14:94464411G>A	ENST00000444118.1	+	0	91					NR_024182.1																						GTCCCTTTTCGGTCTGTCTTC	0.572000													6	18					0	0	0.001984	0	0
SLIT2	9353	broad.mit.edu	37	4	20619185	20619185	+	Missense_Mutation	SNP	G	G	T	rs111791287		TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr4:20619185G>T	ENST00000504154.1	+	36	4512	c.4260G>T	c.(4258-4260)aaG>aaT	p.K1420N	SLIT2_ENST00000273739.5_Missense_Mutation_p.K1433N|SLIT2_ENST00000503823.1_Missense_Mutation_p.K1412N|SLIT2_ENST00000503837.1_Missense_Mutation_p.K1416N	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1420					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AGGCGATCAAGTGCAAGCATG	0.557000													13	15					5.50884e-06	5.98225e-06	0.013537	1	0
MC5R	4161	broad.mit.edu	37	18	13826439	13826439	+	Silent	SNP	C	C	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr18:13826439C>A	ENST00000324750.3	+	1	897	c.675C>A	c.(673-675)gcC>gcA	p.A225A		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	225				ALPGASSARQRTSM -> LCPGPALRGRGPAW (in Ref. 1).	G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						TGCCCGGGGCCAGCTCTGCGC	0.622000													87	179					3.56499e-28	4.44425e-28	0.014410	1	0
BAGE2	85319	broad.mit.edu	37	21	11058238	11058238	+	RNA	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr21:11058238G>A	ENST00000470054.1	-	0	409									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTCGGCTCCTGCAGCACAAGG	0.433000													14	83					0	0	0.001855	0	0
SYDE1	85360	broad.mit.edu	37	19	15222125	15222125	+	Splice_Site	SNP	T	T	C			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr19:15222125T>C	ENST00000600252.1	+	2	1905	c.261_splice	c.e2-1	p.V88_splice	SYDE1_ENST00000600440.1_Splice_Site_p.V364_splice|SYDE1_ENST00000342784.2_Splice_Site_p.V431_splice			Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	431	Pro-rich.				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						CACCCCCAGGTAGTGGGACTG	0.587000													33	22					0	0	0.003755	0	0
SLAMF6	114836	broad.mit.edu	37	1	160466073	160466073	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr1:160466073T>G	ENST00000368059.3	-	2	229	c.160A>C	c.(160-162)Act>Cct	p.T54P	SLAMF6_ENST00000368057.3_Missense_Mutation_p.T54P|SLAMF6_ENST00000368055.1_Intron	NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4	NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1	Q96DU3	SLAF6_HUMAN	SLAM family member 6	54						integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			AAAAGCCAAGTGATGAAGTTG	0.463000													48	135					0	0	0.014410	0	0
WDR17	116966	broad.mit.edu	37	4	177077229	177077229	+	Splice_Site	SNP	G	G	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr4:177077229G>T	ENST00000393643.2	+	18	2712		c.e18-1		WDR17_ENST00000280190.4_Splice_Site|WDR17_ENST00000508596.1_Splice_Site|WDR17_ENST00000507824.2_Splice_Site	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TTCTATTGTAGTGGGACAAAG	0.368000													24	69					2.27525e-19	2.8112e-19	0.003954	1	0
FAM184A	79632	broad.mit.edu	37	6	119345399	119345399	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr6:119345399C>G	ENST00000338891.7	-	2	1182	c.739G>C	c.(739-741)Gat>Cat	p.D247H	FAM184A_ENST00000368475.4_Missense_Mutation_p.D127H|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000352896.5_Missense_Mutation_p.D127H|FAM184A_ENST00000522284.1_Missense_Mutation_p.D127H|FAM184A_ENST00000521531.1_Missense_Mutation_p.D247H	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	247										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						CCTTCATAATCCTCAATTAGT	0.423000													16	39					0	0	0.003163	0	0
FKBP11	51303	broad.mit.edu	37	12	49319149	49319149	+	Silent	SNP	C	C	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr12:49319149C>A	ENST00000550765.1	-	1	461	c.63G>T	c.(61-63)gcG>gcT	p.A21A	FKBP11_ENST00000453172.2_Silent_p.A21A|AC073610.5_ENST00000537495.1_Intron|CCDC65_ENST00000266984.5_Intron|FKBP11_ENST00000552878.1_Silent_p.A21A|ARF3_ENST00000398092.4_Intron	NM_016594.2	NP_057678.1	Q9NYL4	FKB11_HUMAN	FK506 binding protein 11, 19 kDa	21					protein folding	integral to membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			kidney(1)|large_intestine(3)|lung(1)	5						CCCGGCACACCGCCGCACTGa	0.697000													3	25					0.00909568	0.00954188	0.009096	1	0
PTPRB	5787	broad.mit.edu	37	12	71002999	71002999	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr12:71002999T>G	ENST00000334414.6	-	4	873	c.829A>C	c.(829-831)Agc>Cgc	p.S277R	PTPRB_ENST00000451516.2_Missense_Mutation_p.S59R|PTPRB_ENST00000261266.5_Missense_Mutation_p.S59R|PTPRB_ENST00000551525.1_Missense_Mutation_p.S276R|PTPRB_ENST00000550857.1_Missense_Mutation_p.S59R|PTPRB_ENST00000538708.1_Missense_Mutation_p.S59R|PTPRB_ENST00000550358.1_Missense_Mutation_p.S277R|PTPRB_ENST00000538174.2_5'UTR	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	59	Fibronectin type-III 3.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GTGTCACTGCTATAGATGAGG	0.498000													3	67					0	0	0.004672	0	0
OR1J2	26740	broad.mit.edu	37	9	125273891	125273891	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr9:125273891G>A	ENST00000335302.5	+	1	811	c.811G>A	c.(811-813)Gat>Aat	p.D271N		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						TATTGACAAGGATGTCATTGT	0.473000													62	126					0	0	0.014410	0	0
SPECC1	92521	broad.mit.edu	37	17	20108048	20108048	+	Missense_Mutation	SNP	T	T	C	rs149577639	by1000genomes	TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr17:20108048T>C	ENST00000395530.2	+	2	651	c.443T>C	c.(442-444)cTt>cCt	p.L148P	SPECC1_ENST00000395522.2_Missense_Mutation_p.L148P|SPECC1_ENST00000536879.1_Intron|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000395527.4_Missense_Mutation_p.L229P|SPECC1_ENST00000395525.3_Missense_Mutation_p.L148P|SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000395529.3_Missense_Mutation_p.L229P|SPECC1_ENST00000261503.5_Missense_Mutation_p.L229P	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	229						nucleus				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		ATAAGAGCTCTTGAGGAGAAG	0.478000													33	153					0	0	0.012213	0	0
ZNF763	284390	broad.mit.edu	37	19	12088200	12088200	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr19:12088200G>T	ENST00000343949.5	+	3	309	c.154G>T	c.(154-156)Gac>Tac	p.D52Y	ZNF763_ENST00000358987.3_Missense_Mutation_p.D49Y|ZNF763_ENST00000545530.1_Intron|ZNF763_ENST00000590798.1_Missense_Mutation_p.D69Y|ZNF763_ENST00000592625.1_Intron|ZNF763_ENST00000538752.1_Missense_Mutation_p.D69Y|ZNF763_ENST00000591944.1_Intron	NM_001012753.1	NP_001012771.1			zinc finger protein 763											central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						AAAGTGGAAAGACCAGAACAT	0.333000													18	32					2.35188e-11	2.71296e-11	0.006122	1	0
PRKCH	5583	broad.mit.edu	37	14	61917604	61917604	+	Silent	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr14:61917604C>T	ENST00000332981.5	+	6	1132	c.747C>T	c.(745-747)agC>agT	p.S249S	PRKCH_ENST00000555082.1_Silent_p.S88S	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	249					intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		ACAAGTTCAGCATCCACAACT	0.438000													23	38					0	0	0.003330	0	0
PDE10A	10846	broad.mit.edu	37	6	165862443	165862443	+	Silent	SNP	T	T	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr6:165862443T>A	ENST00000366882.1	-	6	493	c.339A>T	c.(337-339)gcA>gcT	p.A113A	PDE10A_ENST00000354448.4_Silent_p.A113A|PDE10A_ENST00000539869.2_Silent_p.A123A			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	113	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	GGAAATACAGTGCAAATCCAT	0.368000													23	38					0	0	0.003330	0	0
ZNF571	51276	broad.mit.edu	37	19	38057174	38057174	+	Silent	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr19:38057174C>T	ENST00000328550.2	-	4	255	c.156G>A	c.(154-156)gtG>gtA	p.V52V	ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571_ENST00000358744.3_Silent_p.V52V|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571_ENST00000451802.2_Silent_p.V52V|ZNF571_ENST00000593133.1_Silent_p.V52V|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000590838.1_RNA			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	52	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACTTTTTGGTCACACAACTGG	0.338000													16	51					0	0	0.004007	0	0
ITGA8	8516	broad.mit.edu	37	10	15726024	15726024	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr10:15726024C>A	ENST00000378076.3	-	4	900	c.547G>T	c.(547-549)Gag>Tag	p.E183*		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	183					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GGAGAGAACTCGGCATAGGCG	0.458000													16	42					3.45872e-05	3.72683e-05	0.004007	1	0
CHRM2	1129	broad.mit.edu	37	7	136700385	136700385	+	Missense_Mutation	SNP	A	A	G	rs142006633	byFrequency	TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr7:136700385A>G	ENST00000445907.2	+	3	1301	c.773A>G	c.(772-774)aAc>aGc	p.N258S	AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.N258S|AC009264.1_ENST00000597642.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.N258S|CHRM2_ENST00000401861.1_Missense_Mutation_p.N258S|CHRM2_ENST00000397608.3_Missense_Mutation_p.N258S|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000593789.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.N258S	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	258					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	CTGGAGCACAACAAAATCCAG	0.512000													10	19					0	0	0.010729	0	0
RNF44	22838	broad.mit.edu	37	5	175956543	175956543	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr5:175956543G>A	ENST00000274811.4	-	9	1641	c.1117C>T	c.(1117-1119)Cat>Tat	p.H373Y	RNF44_ENST00000537487.1_Missense_Mutation_p.H292Y	NM_014901.4	NP_055716.1	Q7L0R7	RNF44_HUMAN	ring finger protein 44	373							zinc ion binding			endometrium(2)|lung(3)|prostate(1)|skin(1)|stomach(1)	8	all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCGACTGATGGCTGTCCGGG	0.647000													22	25					0	0	0.002780	0	0
TOX4	9878	broad.mit.edu	37	14	21955828	21955828	+	Silent	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr14:21955828G>A	ENST00000405508.1	+	4	570	c.294G>A	c.(292-294)ggG>ggA	p.G98G	TOX4_ENST00000494242.1_3'UTR|TOX4_ENST00000448790.2_Silent_p.G75G|TOX4_ENST00000262709.3_Silent_p.G98G			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	98						chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		AGGGCGGGGGGCTCCTGAGTG	0.557000													35	55					0	0	0.013726	0	0
RNF17	56163	broad.mit.edu	37	13	25448319	25448319	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr13:25448319A>T	ENST00000255324.5	+	33	4567	c.4515A>T	c.(4513-4515)gaA>gaT	p.E1505D	RNF17_ENST00000381921.1_Missense_Mutation_p.E1463D|RNF17_ENST00000339524.3_Missense_Mutation_p.E515D	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1505	Tudor 4.				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CCATTAAAGAATTTAATCCTT	0.328000													31	36					0	0	0.010818	0	0
SLITRK5	26050	broad.mit.edu	37	13	88329860	88329860	+	Silent	SNP	C	C	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr13:88329860C>A	ENST00000325089.6	+	2	2436	c.2217C>A	c.(2215-2217)ccC>ccA	p.P739P	SLITRK5_ENST00000400028.3_Silent_p.P498P	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	739						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CCGCGCTGCCCAAGGTGAAGA	0.667000													37	101					1.90571e-15	2.28356e-15	0.004289	1	0
ATP2B3	492	broad.mit.edu	37	X	152825277	152825277	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chrX:152825277G>A	ENST00000370186.1	+	16	3000	c.2674G>A	c.(2674-2676)Gag>Aag	p.E892K	ATP2B3_ENST00000393842.1_Missense_Mutation_p.E892K|ATP2B3_ENST00000460549.1_3'UTR|ATP2B3_ENST00000370181.2_Missense_Mutation_p.E892K|ATP2B3_ENST00000359149.3_Missense_Mutation_p.E906K|ATP2B3_ENST00000349466.2_Missense_Mutation_p.E906K|ATP2B3_ENST00000263519.4_Missense_Mutation_p.E906K			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	906					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCACCCACAGAGTCGCTGCT	0.597000													35	11					0	0	0.004878	0	0
MYCBP2	23077	broad.mit.edu	37	13	77632376	77632376	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr13:77632376G>A	ENST00000407578.2	-	78	13572	c.13306C>T	c.(13306-13308)Ctc>Ttc	p.L4436F	MYCBP2_ENST00000544440.2_Missense_Mutation_p.L4398F|MYCBP2_ENST00000357337.6_Missense_Mutation_p.L4398F	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	4398					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GCTGCCGAGAGCGCTTCGGTG	0.458000													49	105					0	0	0.014410	0	0
ZNF678	339500	broad.mit.edu	37	1	227842404	227842404	+	Silent	SNP	A	A	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr1:227842404A>G	ENST00000343776.4	+	4	798	c.453A>G	c.(451-453)aaA>aaG	p.K151K	ZNF678_ENST00000397097.3_Silent_p.K206K|ZNF678_ENST00000498759.1_Intron			F5GXA7	F5GXA7_HUMAN	zinc finger protein 678	206					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				CTGGAGAGAAACCCTACAAAT	0.353000													26	78					0	0	0.004656	0	0
TMEM87A	25963	broad.mit.edu	37	15	42560198	42560198	+	Translation_Start_Site	SNP	T	T	C			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr15:42560198T>C	ENST00000568432.1	-	0	283				TMEM87A_ENST00000448392.1_Missense_Mutation_p.I19V|TMEM87A_ENST00000389834.4_Missense_Mutation_p.I80V|TMEM87A_ENST00000307216.6_Missense_Mutation_p.I80V			Q8NBN3	TM87A_HUMAN	transmembrane protein 87A							integral to membrane				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		TACCAGGTTATATTCAAAGAC	0.323000													25	46					0	0	0.004656	0	0
EARS2	124454	broad.mit.edu	37	16	23563530	23563530	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr16:23563530C>G	ENST00000449606.1	-	2	266	c.235G>C	c.(235-237)Gat>Cat	p.D79H	EARS2_ENST00000563459.1_Missense_Mutation_p.D79H|EARS2_ENST00000563232.1_Missense_Mutation_p.D79H|EARS2_ENST00000564501.1_Missense_Mutation_p.D79H	NM_001083614.1	NP_001077083.1	Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	79					glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|glutamate-tRNA ligase activity|RNA binding			central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)	L-Glutamic Acid(DB00142)	CGAGTCTGATCTGTGTCCTCT	0.547000													35	71					0	0	0.004289	0	0
LZTS3	9762	broad.mit.edu	37	20	3147717	3147717	+	Silent	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr20:3147717C>T	ENST00000329152.3	-	1	1490	c.93G>A	c.(91-93)ccG>ccA	p.P31P	LZTS3_ENST00000360342.3_Silent_p.P31P|LZTS3_ENST00000337576.5_Silent_p.P31P	NM_014731.2	NP_055546.1																					GGCGGGGGTCCGGGGGTCCAA	0.706000													9	10					0	0	0.008291	0	0
NARS	4677	broad.mit.edu	37	18	55283091	55283091	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr18:55283091C>A	ENST00000256854.5	-	3	665	c.210G>T	c.(208-210)tgG>tgT	p.W70C	NARS_ENST00000423481.2_5'UTR	NM_004539.3	NP_004530.1	O43776	SYNC_HUMAN	asparaginyl-tRNA synthetase	70					asparaginyl-tRNA aminoacylation	cytosol|soluble fraction	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding			breast(1)|endometrium(5)|large_intestine(5)|lung(8)|skin(1)	20		Colorectal(73;0.227)			L-Asparagine(DB00174)	GTTCCCTATGCCACATCTTTT	0.388000													22	55					1.87028e-06	2.05509e-06	0.012319	1	0
MAZ	4150	broad.mit.edu	37	16	29820025	29820025	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr16:29820025C>G	ENST00000219782.6	+	4	1348	c.1242C>G	c.(1240-1242)agC>agG	p.S414R	AC009133.14_ENST00000563806.1_RNA|MAZ_ENST00000545521.1_Missense_Mutation_p.S391R|MAZ_ENST00000563402.1_Intron|MAZ_ENST00000568282.1_Missense_Mutation_p.S15R|MAZ_ENST00000322945.6_Missense_Mutation_p.S414R|MAZ_ENST00000566906.2_Intron|MAZ_ENST00000569978.1_Missense_Mutation_p.S15R|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000562337.1_Missense_Mutation_p.S109R|MAZ_ENST00000568544.1_Missense_Mutation_p.S15R	NM_001042539.1	NP_001036004.1	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	414					regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						AGGTGCACAGCCAGGGTCCTC	0.612000													12	18					0	0	0.001855	0	0
CTAGE5	4253	broad.mit.edu	37	14	39764138	39764138	+	Missense_Mutation	SNP	A	A	G	rs150627486	byFrequency	TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr14:39764138A>G	ENST00000553728.1	+	12	2395	c.2182A>G	c.(2182-2184)Acc>Gcc	p.T728A	CTAGE5_ENST00000396165.4_Missense_Mutation_p.T164A|CTAGE5_ENST00000341502.5_Missense_Mutation_p.T193A|CTAGE5_ENST00000341749.3_Missense_Mutation_p.T181A|CTAGE5_ENST00000348007.3_Missense_Mutation_p.T193A|CTAGE5_ENST00000280083.3_Missense_Mutation_p.T193A|CTAGE5_ENST00000553352.1_Missense_Mutation_p.T164A|CTAGE5_ENST00000557038.1_Missense_Mutation_p.T113A|CTAGE5_ENST00000556148.1_Missense_Mutation_p.T118A|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.T164A|CTAGE5_ENST00000396158.2_Missense_Mutation_p.T198A																							GGCCAAAATGACCTTCAAGAT	0.313000													4	88					0	0	0.000602	0	0
SYVN1	84447	broad.mit.edu	37	11	64897499	64897499	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr11:64897499C>A	ENST00000526060.1	-	13	1572	c.1380G>T	c.(1378-1380)atG>atT	p.M460I	SYVN1_ENST00000307289.6_Missense_Mutation_p.M409I|SYVN1_ENST00000377190.3_Missense_Mutation_p.M461I|SYVN1_ENST00000294256.8_Missense_Mutation_p.M460I			Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	461	Pro-rich.				ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						GGGGCATACCCATCCAGGGAG	0.647000													7	14					5.18039e-06	5.64764e-06	0.003080	1	0
MYO1A	4640	broad.mit.edu	37	12	57431381	57431381	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr12:57431381C>G	ENST00000442789.2	-	20	2293	c.2006G>C	c.(2005-2007)gGg>gCg	p.G669A	MYO1A_ENST00000300119.3_Missense_Mutation_p.G669A|MYO1A_ENST00000544473.1_Missense_Mutation_p.G507A	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	669	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						GGCCAGCTCCCCCGAGGACAT	0.512000													107	229					0	0	0.014410	0	0
NIPBL	25836	broad.mit.edu	37	5	37048756	37048756	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr5:37048756A>G	ENST00000282516.8	+	39	7241	c.6742A>G	c.(6742-6744)Atg>Gtg	p.M2248V	NIPBL_ENST00000448238.2_Missense_Mutation_p.M2248V	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2248					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AGATACACGTATGCAGCAGGC	0.269000													9	24					0	0	0.008291	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125686264	125686264	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chrX:125686264G>T	ENST00000371126.1	-	1	570	c.328C>A	c.(328-330)Cag>Aag	p.Q110K		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	110										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CACACCACCTGCCTGGAGTTC	0.637000													36	17					4.65686e-17	5.65331e-17	0.003755	1	0
DRD5	1816	broad.mit.edu	37	4	9784899	9784899	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr4:9784899A>C	ENST00000304374.2	+	1	1642	c.1246A>C	c.(1246-1248)Aac>Cac	p.N416H		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	416					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CATGATGCCCAACGCCGTTAC	0.567000													19	48					0	0	0.008871	0	0
ZFAND2A	90637	broad.mit.edu	37	7	1197827	1197827	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr7:1197827T>G	ENST00000401903.1	-	2	281	c.22A>C	c.(22-24)Aag>Cag	p.K8Q	ZFAND2A_ENST00000316495.3_Missense_Mutation_p.K8Q			Q8N6M9	ZFN2A_HUMAN	zinc finger, AN1-type domain 2A	8						cytoplasm|nucleus	zinc ion binding			lung(2)|ovary(1)	3		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15)		GAACAATGCTTCCCCAAATCA	0.408000													48	230					0	0	0.014410	0	0
SLC30A1	7779	broad.mit.edu	37	1	211751730	211751730	+	Silent	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr1:211751730G>A	ENST00000367001.4	-	1	354	c.225C>T	c.(223-225)atC>atT	p.I75I		NM_021194.2	NP_067017.2	Q9Y6M5	ZNT1_HUMAN	solute carrier family 30 (zinc transporter), member 1	75					cadmium ion transmembrane transport|cellular calcium ion homeostasis|cellular zinc ion homeostasis|negative regulation of calcium ion import|negative regulation of neurotransmitter secretion|negative regulation of zinc ion import	integral to membrane|T-tubule	calcium channel inhibitor activity|zinc ion transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1)	11				OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)		CCTCGGCTCGGATCCAGCCGA	0.662000													16	20					0	0	0.004990	0	0
N4BP2L2	10443	broad.mit.edu	37	13	33111164	33111164	+	Translation_Start_Site	SNP	T	T	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr13:33111164T>A	ENST00000446957.2	-	1	0	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	N4BP2L2_ENST00000399396.3_Splice_Site_p.M1_splice|N4BP2L2_ENST00000267068.3_Splice_Site_p.M1_splice|N4BP2L2_ENST00000357505.6_Intron|N4BP2L2_ENST00000504114.1_Intron			Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	1										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		CCATAAGACATCTGAGAAATA	0.289000													10	14					0	0	0.006214	0	0
ARMC4	55130	broad.mit.edu	37	10	28196653	28196653	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr10:28196653G>A	ENST00000305242.5	-	17	2641	c.2549C>T	c.(2548-2550)cCt>cTt	p.P850L	ARMC4_ENST00000537576.1_Missense_Mutation_p.P542L|ARMC4_ENST00000545014.1_Missense_Mutation_p.P375L	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	850							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GTCTGGGTGAGGATTTTTCAG	0.443000													18	40					0	0	0.007413	0	0
NBEA	26960	broad.mit.edu	37	13	35619137	35619137	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr13:35619137G>A	ENST00000400445.3	+	3	1114	c.580G>A	c.(580-582)Gag>Aag	p.E194K	NBEA_ENST00000379939.2_Missense_Mutation_p.E194K|NBEA_ENST00000310336.4_Missense_Mutation_p.E194K|NBEA_ENST00000540320.1_Missense_Mutation_p.E194K	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	194						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CACTGTCAAGGAGTTGAAGCT	0.418000													9	14					0	0	0.006214	0	0
PYCR1	5831	broad.mit.edu	37	17	79892538	79892538	+	Silent	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr17:79892538C>T	ENST00000337943.5	-	5	1066	c.624G>A	c.(622-624)caG>caA	p.Q208Q	PYCR1_ENST00000402252.2_Silent_p.Q235Q|PYCR1_ENST00000329875.8_Silent_p.Q208Q|PYCR1_ENST00000403172.4_Intron|PYCR1_ENST00000577756.1_Silent_p.Q208Q	NM_153824.1	NP_722546.1	P32322	P5CR1_HUMAN	pyrroline-5-carboxylate reductase 1	208					cellular response to oxidative stress|proline biosynthetic process	mitochondrial matrix	binding|pyrroline-5-carboxylate reductase activity			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		L-Proline(DB00172)|NADH(DB00157)	CCAGGAGGGCCTGGGCCCCGA	0.662000													3	5					0	0	0.004672	0	0
ING5	84289	broad.mit.edu	37	2	242650884	242650884	+	Silent	SNP	C	C	T	rs142180451	byFrequency	TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr2:242650884C>T	ENST00000313552.6	+	4	395	c.369C>T	c.(367-369)tcC>tcT	p.S123S	ING5_ENST00000482774.1_3'UTR|ING5_ENST00000406941.1_Silent_p.S123S	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5	123					DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			large_intestine(1)|lung(1)|skin(1)	3		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		TTGAAAGCTCCGGAGGGCGAG	0.393000													44	94					0	0	0.007835	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21467564	21467564	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr12:21467564C>G	ENST00000307378.6	-	5	974	c.254G>C	c.(253-255)aGa>aCa	p.R85T	SLCO1A2_ENST00000452078.1_Missense_Mutation_p.R85T|SLCO1A2_ENST00000537524.1_Intron|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.R83T|SLCO1A2_ENST00000458504.1_Intron|SLCO1A2_ENST00000473830.1_Intron	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	85					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						CATTATAGGTCTATGCAGTTT	0.328000													19	41					0	0	0.008871	0	0
PSG11	5680	broad.mit.edu	37	19	43529018	43529018	+	Silent	SNP	G	G	A	rs138426313		TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr19:43529018G>A	ENST00000401740.1	-	2	358	c.255C>T	c.(253-255)gaC>gaT	p.D85D	PSG11_ENST00000306322.7_Intron|PSG11_ENST00000320078.7_Silent_p.D85D|PSG11_ENST00000403486.1_Intron			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	85	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				TTATTTGACCGTCTACTACAT	0.443000													56	179					0	0	0.014410	0	0
SUPV3L1	6832	broad.mit.edu	37	10	70962246	70962246	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr10:70962246C>G	ENST00000359655.4	+	12	1630	c.1570C>G	c.(1570-1572)Ctc>Gtc	p.L524V		NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	524					DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGCCTACCATCTCCCTGATGC	0.373000													23	53					0	0	0.006320	0	0
SEC24D	9871	broad.mit.edu	37	4	119649746	119649746	+	Silent	SNP	A	A	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr4:119649746A>T	ENST00000379735.5	-	22	3202	c.2931T>A	c.(2929-2931)atT>atA	p.I977I	SEC24D_ENST00000280551.6_Silent_p.I976I|SEC24D_ENST00000511481.1_Silent_p.I607I|SEC24D_ENST00000505134.1_5'UTR|SEC24D_ENST00000429811.2_3'UTR	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	976					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						TTTGTTGGATAATACCCATTA	0.308000													7	25					0	0	0.004482	0	0
MCOLN3	55283	broad.mit.edu	37	1	85491754	85491754	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr1:85491754G>T	ENST00000370589.2	-	9	1015	c.963C>A	c.(961-963)ttC>ttA	p.F321L	MCOLN3_ENST00000341115.4_Missense_Mutation_p.F265L|WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000370587.1_3'UTR	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	321						integral to membrane	ion channel activity			endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		AATGGAGGAGGAAAAAATTGA	0.363000													10	16					2.80697e-09	3.17211e-09	0.010729	1	0
PLCL2	23228	broad.mit.edu	37	3	17052859	17052859	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr3:17052859G>A	ENST00000418129.2	+	2	2108	c.1643G>A	c.(1642-1644)aGg>aAg	p.R548K	PLCL2_ENST00000396755.2_Missense_Mutation_p.R548K|PLCL2_ENST00000432376.1_Missense_Mutation_p.R548K	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	674	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						TTTCTTGCTAGGGTTTTTCCC	0.398000													16	23					0	0	0.006122	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45479008	45479008	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr21:45479008A>T	ENST00000291574.4	+	6	878	c.703A>T	c.(703-705)Atg>Ttg	p.M235L	TRAPPC10_ENST00000380221.3_Missense_Mutation_p.M235L	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	235					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						TGTTTTCGAGATGCTGCAGCA	0.468000													9	28					0	0	0.008291	0	0
GOLGA2P5	55592	broad.mit.edu	37	12	100559710	100559710	+	RNA	SNP	T	T	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr12:100559710T>G	ENST00000397112.4	-	0	599					NR_036632.1															large_intestine(1)|lung(3)	4						CAGAGGCTGGTGCCCGCCTTC	0.602000													5	15					0	0	0.001984	0	0
RASD1	51655	broad.mit.edu	37	17	17399294	17399294	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr17:17399294G>T	ENST00000225688.3	-	1	413	c.202C>A	c.(202-204)Cgc>Agc	p.R68S	RASD1_ENST00000579152.1_Missense_Mutation_p.R68S	NM_001199989.1|NM_016084.4	NP_001186918.1|NP_057168.1	Q9Y272	RASD1_HUMAN	RAS, dexamethasone-induced 1	68					G-protein coupled receptor protein signaling pathway|small GTPase mediated signal transduction	nucleus|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4						ACCTCGCCGCGGATGGAGTAG	0.672000													15	72					3.41278e-10	3.90434e-10	0.004990	1	0
ACSM3	6296	broad.mit.edu	37	16	20797459	20797459	+	Silent	SNP	T	T	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr16:20797459T>G	ENST00000289416.5	+	9	1678	c.1203T>G	c.(1201-1203)ccT>ccG	p.P401P	ACSM3_ENST00000440284.2_Silent_p.P401P|ACSM3_ENST00000450120.2_Silent_p.P393P|ACSM3_ENST00000567387.1_3'UTR|ERI2_ENST00000300005.3_Intron	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	401					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						TGGGAAAACCTTCTCCTGCTT	0.388000													15	23					0	0	0.008871	0	0
UBE4A	9354	broad.mit.edu	37	11	118267058	118267058	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr11:118267058C>T	ENST00000252108.3	+	20	3235	c.3104C>T	c.(3103-3105)cCc>cTc	p.P1035L	UBE4A_ENST00000431736.2_Missense_Mutation_p.P1042L|UBE4A_ENST00000545354.1_Missense_Mutation_p.P507L	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	1035	U-box.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		AACCGTAGTCCCCTCACCATG	0.418000													23	42					0	0	0.003954	0	0
PHF21B	112885	broad.mit.edu	37	22	45281799	45281799	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr22:45281799C>T	ENST00000313237.5	-	11	1367	c.1217G>A	c.(1216-1218)gGt>gAt	p.G406D	PHF21B_ENST00000403565.1_Missense_Mutation_p.G202D|PHF21B_ENST00000396103.3_Missense_Mutation_p.G364D|PHF21B_ENST00000404079.2_Missense_Mutation_p.G352D	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	406							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		CCAGGGCACACCCTCGTCTTT	0.597000													57	84					0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179457367	179457367	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr2:179457367C>A	ENST00000589042.1	-	301	59589	c.59365G>T	c.(59365-59367)Gat>Tat	p.D19789Y	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D10916Y|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D17221Y|TTN_ENST00000591111.1_Missense_Mutation_p.D18148Y|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D10849Y|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D10724Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18148	Fibronectin type-III 43.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGTTGGCATCAAGAATCAAC	0.363000													35	51					7.65355e-07	8.51075e-07	0.012213	1	0
RIN2	54453	broad.mit.edu	37	20	19981537	19981537	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr20:19981537G>T	ENST00000255006.6	+	12	2941	c.2792G>T	c.(2791-2793)gGc>gTc	p.G931V	RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Missense_Mutation_p.G449V	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	882					endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						GATCCTTATGGCATCATTTTC	0.532000													22	63					5.45024e-15	6.50286e-15	0.003330	1	0
NRIP1	8204	broad.mit.edu	37	21	16339770	16339770	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr21:16339770T>A	ENST00000400202.1	-	3	1456	c.744A>T	c.(742-744)gaA>gaT	p.E248D	NRIP1_ENST00000400199.1_Missense_Mutation_p.E248D|NRIP1_ENST00000318948.4_Missense_Mutation_p.E248D			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	248	Repression domain 1.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TAGCCCTTTTTTCCACCATGC	0.473000													19	47					0	0	0.012319	0	0
ASB4	51666	broad.mit.edu	37	7	95157465	95157465	+	Silent	SNP	C	C	A	rs146416403	by1000genomes	TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr7:95157465C>A	ENST00000325885.5	+	3	899	c.828C>A	c.(826-828)gcC>gcA	p.A276A	ASB4_ENST00000428113.1_Silent_p.A276A	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	276					intracellular signal transduction					central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			AAGCTGGCGCCGAAGCCAATC	0.577000											OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	35					8.10497e-08	9.04893e-08	0.010504	1	0
ZNF71	58491	broad.mit.edu	37	19	57133864	57133864	+	Silent	SNP	G	G	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr19:57133864G>T	ENST00000328070.6	+	3	1443	c.1209G>T	c.(1207-1209)gtG>gtT	p.V403V		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	403						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		ACCAGATCGTGCACACCGGGG	0.647000													15	47					8.60227e-14	1.01332e-13	0.004007	1	0
PIK3CA	5290	broad.mit.edu	37	3	178916946	178916946	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr3:178916946G>C	ENST00000263967.3	+	2	490	c.333G>C	c.(331-333)aaG>aaC	p.K111N		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	111					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.K111N(12)|p.K111_L113delKIL(2)|p.K111_I112>N(1)|p.K111del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GTGAAGAAAAGATCCTCAATC	0.328000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			6	42					0	0	0.003080	0	0
C15orf39	56905	broad.mit.edu	37	15	75498857	75498857	+	Silent	SNP	T	T	C			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr15:75498857T>C	ENST00000360639.2	+	2	788	c.468T>C	c.(466-468)gaT>gaC	p.D156D	C15orf39_ENST00000394987.4_Silent_p.D156D|C15orf39_ENST00000567617.1_Silent_p.D156D			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	156										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						GGCCACTGGATGTTGACTGGA	0.622000													37	66					0	0	0.007835	0	0
BRD2	6046	broad.mit.edu	37	6	32947816	32947816	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr6:32947816G>T	ENST00000395289.2	+	12	3759	c.2158G>T	c.(2158-2160)Gag>Tag	p.E720*	BRD2_ENST00000374831.4_Nonsense_Mutation_p.E685*|BRD2_ENST00000443797.2_Nonsense_Mutation_p.E565*|BRD2_ENST00000395287.1_Nonsense_Mutation_p.E720*|BRD2_ENST00000449085.2_Nonsense_Mutation_p.E638*|BRD2_ENST00000374825.4_Nonsense_Mutation_p.E685*			P25440	BRD2_HUMAN	bromodomain containing 2	685	ET.				spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						AGAAGAGATTGAGATTGATTT	0.483000													4	60					1.23904e-05	1.34028e-05	0.000602	1	0
RFC4	5984	broad.mit.edu	37	3	186518927	186518927	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr3:186518927T>G	ENST00000392481.2	-	3	470	c.189A>C	c.(187-189)aaA>aaC	p.K63N	RFC4_ENST00000433496.1_Missense_Mutation_p.K63N|RFC4_ENST00000296273.2_Missense_Mutation_p.K63N	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	63					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		CTAAAGATTTTTTCAGCACTG	0.378000													24	106					0	0	0.006320	0	0
ANO4	121601	broad.mit.edu	37	12	101520815	101520815	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr12:101520815G>C	ENST00000392979.3	+	26	3091	c.2730G>C	c.(2728-2730)aaG>aaC	p.K910N	ANO4_ENST00000392977.3_Missense_Mutation_p.K945N|ANO4_ENST00000299222.9_Missense_Mutation_p.K465N|ANO4_ENST00000550015.1_Missense_Mutation_p.K465N	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	945						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						AGAGGAAGAAGAATGGAAAAG	0.488000										HNSCC(74;0.22)			6	16					0	0	0.001984	0	0
LIFR	3977	broad.mit.edu	37	5	38482196	38482196	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr5:38482196C>T	ENST00000263409.4	-	20	2957	c.2795G>A	c.(2794-2796)cGt>cAt	p.R932H	LIFR_ENST00000453190.2_Missense_Mutation_p.R932H	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	932					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					ATCTTCAGGACGCTCAGCTAC	0.433000			T	PLAG1	salivary adenoma								29	188					0	0	0.012213	0	0
TSPYL5	85453	broad.mit.edu	37	8	98289495	98289495	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr8:98289495G>A	ENST00000322128.3	-	1	681	c.578C>T	c.(577-579)tCg>tTg	p.S193L		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	193					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					TGGGGGCCCCGACCCTGCATC	0.622000													24	96					0	0	0.003954	0	0
DEFB114	245928	broad.mit.edu	37	6	49928037	49928037	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr6:49928037C>T	ENST00000322066.3	-	2	177	c.178G>A	c.(178-180)Gag>Aag	p.E60K		NM_001037499.1	NP_001032588.1	Q30KQ6	DB114_HUMAN	defensin, beta 114	60					defense response to bacterium	extracellular region				kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Lung NSC(77;0.042)					TACAATTTCTCAGTGCAGCAA	0.378000													12	24					0	0	0.001855	0	0
PCDH8	5100	broad.mit.edu	37	13	53419596	53419596	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr13:53419596C>T	ENST00000377942.3	-	2	3006	c.2803G>A	c.(2803-2805)Gct>Act	p.A935T	PCDH8_ENST00000338862.4_Missense_Mutation_p.A838T	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	935					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		TTTTTCAGAGCGTCCCCGCTG	0.522000													7	74					0	0	0.003080	0	0
TEX101	83639	broad.mit.edu	37	19	43920656	43920656	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr19:43920656T>C	ENST00000602198.1	+	6	836	c.394T>C	c.(394-396)Tgt>Cgt	p.C132R	TEX101_ENST00000601707.1_3'UTR|TEX101_ENST00000253435.7_Missense_Mutation_p.C132R|TEX101_ENST00000598265.1_Missense_Mutation_p.C114R	NM_031451.4	NP_113639.4	Q9BY14	TX101_HUMAN	testis expressed 101	114						anchored to membrane|plasma membrane				large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				GGATTCCTTCTGTAATGACAA	0.507000													98	142					0	0	0.014410	0	0
SKIDA1	387640	broad.mit.edu	37	10	21804965	21804965	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr10:21804965C>G	ENST00000449193.2	-	4	4039	c.1787G>C	c.(1786-1788)cGa>cCa	p.R596P	SKIDA1_ENST00000444772.3_Missense_Mutation_p.R517P	NM_207371.3	NP_997254.3			SKI/DACH domain containing 1																		CCTAGCCTCTCGGAGTATTCT	0.438000													16	81					0	0	0.003163	0	0
MUC16	94025	broad.mit.edu	37	19	9088493	9088493	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr19:9088493C>G	ENST00000397910.4	-	1	3525	c.3322G>C	c.(3322-3324)Gat>Cat	p.D1108H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1108	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGACATCATCAGAAAATGTG	0.443000													18	36					0	0	0.004990	0	0
NEB	4703	broad.mit.edu	37	2	152397296	152397296	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr2:152397296G>T	ENST00000397345.3	-	137	20904	c.20702C>A	c.(20701-20703)gCc>gAc	p.A6901D	NEB_ENST00000604864.1_Missense_Mutation_p.A6901D|NEB_ENST00000427231.2_Missense_Mutation_p.A6901D|NEB_ENST00000409198.1_Missense_Mutation_p.A5200D|NEB_ENST00000172853.10_Missense_Mutation_p.A5200D|NEB_ENST00000603639.1_Missense_Mutation_p.A6901D	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	5200					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTCTTTGGTGGCAAGTTCAAC	0.413000													26	45					2.79863e-10	3.21496e-10	0.004656	1	0
SLC16A6	9120	broad.mit.edu	37	17	66267356	66267356	+	Silent	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr17:66267356G>A	ENST00000327268.4	-	6	1109	c.945C>T	c.(943-945)atC>atT	p.I315I	SLC16A6_ENST00000580666.1_Silent_p.I315I|ARSG_ENST00000448504.2_Intron	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	315						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	CCAGAGGAATGATGTACAAGG	0.423000													12	24					0	0	0.010729	0	0
NIN	51199	broad.mit.edu	37	14	51259494	51259494	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr14:51259494G>A	ENST00000245441.5	-	5	561	c.371C>T	c.(370-372)aCg>aTg	p.T124M	NIN_ENST00000324330.9_Missense_Mutation_p.T124M|NIN_ENST00000382041.3_Missense_Mutation_p.T124M|NIN_ENST00000382043.4_Missense_Mutation_p.T124M|NIN_ENST00000389868.3_Missense_Mutation_p.T124M|NIN_ENST00000453196.1_Missense_Mutation_p.T124M|NIN_ENST00000530997.2_Missense_Mutation_p.T124M|NIN_ENST00000486200.1_5'UTR	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	124					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CTCAATCACCGTCACTTCAGG	0.542000			T	PDGFRB	MPD								26	45					0	0	0.004656	0	0
NR0B1	190	broad.mit.edu	37	X	30327172	30327172	+	Silent	SNP	C	C	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chrX:30327172C>A	ENST00000378970.4	-	1	543	c.309G>T	c.(307-309)ccG>ccT	p.P103P	NR0B1_ENST00000453287.1_Silent_p.P103P	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	103	4 X 67 AA tandem repeats.				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	AGCCCCAGCACGGACCCAGCG	0.677000											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	15					2.37509e-13	2.76266e-13	0.010504	1	0
FAM86DP	692099	broad.mit.edu	37	3	75477008	75477008	+	RNA	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr3:75477008C>T	ENST00000459803.1	-	0	430					NR_024241.1																						CCTGTGGTACCATGGGAGATG	0.582000													20	10					0	0	0.002780	0	0
IGKV1D-43	28891	broad.mit.edu	37	2	90249391	90249391	+	RNA	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr2:90249391C>T	ENST00000468879.1	+	0	528																											TATTATAGTACCCCTCCCACA	0.517000													54	138					0	0	0.014410	0	0
SCN3A	6328	broad.mit.edu	37	2	166003416	166003416	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr2:166003416G>A	ENST00000360093.3	-	12	1995	c.1504C>T	c.(1504-1506)Cga>Tga	p.R502*	SCN3A_ENST00000409101.3_Nonsense_Mutation_p.R502*|SCN3A_ENST00000283254.7_Nonsense_Mutation_p.R502*	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	502						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TTCTTCCTTCGGTTCCTCCAT	0.428000													51	96					0	0	0.014410	0	0
SAA4	6291	broad.mit.edu	37	11	18257396	18257396	+	Silent	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr11:18257396C>T	ENST00000278222.4	-	2	258	c.78G>A	c.(76-78)aaG>aaA	p.K26K	SAA2-SAA4_ENST00000524555.1_RNA	NM_006512.3	NP_006503.2			serum amyloid A4, constitutive											haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(1)|stomach(1)	13						GGAGAGCCTCCTTGAAAAACG	0.493000													24	79					0	0	0.005443	0	0
VPS16	64601	broad.mit.edu	37	20	2845938	2845938	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr20:2845938C>T	ENST00000380445.3	+	21	2221	c.2149C>T	c.(2149-2151)Cgt>Tgt	p.R717C	PTPRA_ENST00000380393.3_5'UTR|VPS16_ENST00000380469.3_Missense_Mutation_p.R573C|VPS16_ENST00000380443.3_Missense_Mutation_p.R403C	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	717					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						GCAGCTGGCACGTGACTTCCG	0.592000													23	60					0	0	0.014323	0	0
POLE	5426	broad.mit.edu	37	12	133249289	133249289	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr12:133249289T>C	ENST00000320574.5	-	15	1653	c.1610A>G	c.(1609-1611)gAg>gGg	p.E537G	POLE_ENST00000535270.1_Missense_Mutation_p.E510G	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	537					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GACGTAGGTCTCAGAGTCCAG	0.577000								DNA polymerases (catalytic subunits)					31	64					0	0	0.012213	0	0
SEC16A	9919	broad.mit.edu	37	9	139366454	139366454	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr9:139366454C>T	ENST00000313050.7	-	2	3750	c.3677G>A	c.(3676-3678)aGc>aAc	p.S1226N	SEC16A_ENST00000290037.6_Missense_Mutation_p.S1048N|SEC16A_ENST00000431893.2_Missense_Mutation_p.S1048N|SEC16A_ENST00000371706.3_Missense_Mutation_p.S1048N	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1048	Required for endoplasmic reticulum localization.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CGAGGAGTGGCTGGCTCGGGA	0.637000													33	37					0	0	0.013726	0	0
PLEKHH3	79990	broad.mit.edu	37	17	40823111	40823111	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr17:40823111C>T	ENST00000293349.6	-	9	1752	c.1322G>A	c.(1321-1323)cGg>cAg	p.R441Q	PLEKHH3_ENST00000591022.1_Missense_Mutation_p.R441Q|PLEKHH3_ENST00000412503.1_Missense_Mutation_p.R441Q|PLEKHH3_ENST00000456950.2_5'UTR			Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	441	FERM.				signal transduction	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GTTGCGGCTCCGGGCCAAGCC	0.667000													32	55					0	0	0.012213	0	0
DCLK2	166614	broad.mit.edu	37	4	151168815	151168815	+	Silent	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr4:151168815G>A	ENST00000296550.7	+	13	2593	c.1839G>A	c.(1837-1839)ccG>ccA	p.P613P	DCLK2_ENST00000506325.1_Silent_p.P612P|DCLK2_ENST00000302176.8_Silent_p.P630P	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	613	Protein kinase.				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TGGAGTTTCCGGCCCCCTACT	0.512000													12	25					0	0	0.001855	0	0
ITPR2	3709	broad.mit.edu	37	12	26808679	26808679	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr12:26808679G>A	ENST00000381340.3	-	20	2967	c.2551C>T	c.(2551-2553)Cct>Tct	p.P851S		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	851					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TCCCCAAAAGGAAAGGGCTGG	0.338000													37	61					0	0	0.004289	0	0
CST3	1471	broad.mit.edu	37	20	23614554	23614554	+	Nonstop_Mutation	SNP	T	T	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr20:23614554T>A	ENST00000398411.1	-	3	522	c.440A>T	c.(439-441)tAg>tTg	p.*147L	CST3_ENST00000398409.1_Nonstop_Mutation_p.*147L|CST3_ENST00000376925.3_Nonstop_Mutation_p.*147L			P01034	CYTC_HUMAN	cystatin C	0					defense response|fibril organization|negative regulation of blood vessel remodeling|negative regulation of collagen catabolic process|negative regulation of elastin catabolic process|negative regulation of extracellular matrix disassembly	extracellular space	beta-amyloid binding|cysteine-type endopeptidase inhibitor activity|protease binding			large_intestine(2)|lung(1)|ovary(1)	4	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					TACAGACCCCTAGGCGTCCTG	0.577000													31	97					0	0	0.010818	0	0
SYN3	8224	broad.mit.edu	37	22	32909744	32909744	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr22:32909744C>G	ENST00000358763.2	-	14	1920	c.1678G>C	c.(1678-1680)Gac>Cac	p.D560H	SYN3_ENST00000332840.5_Missense_Mutation_p.D560H|SYN3_ENST00000467095.1_5'UTR	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	560	E.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TTGGCCTCGTCTTCACTTGGG	0.562000													28	55					0	0	0.005443	0	0
WDR54	84058	broad.mit.edu	37	2	74652827	74652827	+	Nonstop_Mutation	SNP	G	G	C			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr2:74652827G>C	ENST00000348227.4	+	10	1092	c.1004G>C	c.(1003-1005)tGa>tCa	p.*335S	WDR54_ENST00000409791.1_3'UTR	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54	0										breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						AGCAGTGTGTGAGAAGAGCAG	0.507000													71	98					0	0	0.014410	0	0
NLRP11	204801	broad.mit.edu	37	19	56303779	56303779	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr19:56303779A>G	ENST00000443188.1	-	9	3111	c.2401T>C	c.(2401-2403)Ttc>Ctc	p.F801L	NLRP11_ENST00000592953.1_Missense_Mutation_p.F702L|NLRP11_ENST00000589824.2_Missense_Mutation_p.F747L|NLRP11_ENST00000589093.1_Missense_Mutation_p.F801L|NLRP11_ENST00000360133.3_Missense_Mutation_p.F747L	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	801							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GTTGGGCTGAACAGAAGCACT	0.473000													9	78					0	0	0.004482	0	0
TARS2	80222	broad.mit.edu	37	1	150478094	150478094	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr1:150478094C>A	ENST00000369064.3	+	17	1955	c.1921C>A	c.(1921-1923)Ctg>Atg	p.L641M	TARS2_ENST00000606933.1_Missense_Mutation_p.L559M|TARS2_ENST00000369054.2_Missense_Mutation_p.L511M	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	641					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	GGCTGCAGGACTGGTCAGTGA	0.527000													42	69					4.0306e-16	4.87177e-16	0.014410	1	0
HSPA8	3312	broad.mit.edu	37	11	122928593	122928593	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr11:122928593T>A	ENST00000534624.1	-	9	2066	c.1790A>T	c.(1789-1791)aAa>aTa	p.K597I	HSPA8_ENST00000453788.2_Intron|HSPA8_ENST00000534319.1_Missense_Mutation_p.K361I|HSPA8_ENST00000526110.1_Missense_Mutation_p.K578I|HSPA8_ENST00000532636.1_Missense_Mutation_p.K597I|HSPA8_ENST00000533540.1_Missense_Mutation_p.K451I|HSPA8_ENST00000227378.3_Missense_Mutation_p.K597I	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	597					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CTCCAGCTCTTTCTGTTGATG	0.463000													53	88					0	0	0.014410	0	0
IKBIP	121457	broad.mit.edu	37	12	99020188	99020188	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr12:99020188T>A	ENST00000299157.4	-	3	1027	c.654A>T	c.(652-654)agA>agT	p.R218S	IKBIP_ENST00000342502.2_Intron|IKBIP_ENST00000420861.1_Intron|IKBIP_ENST00000393042.3_Intron	NM_153687.3	NP_710154.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	219					induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						CTTCTTCTTGTCTTTTTACTG	0.408000													25	58					0	0	0.003330	0	0
GNB2L1	10399	broad.mit.edu	37	5	180666087	180666087	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr5:180666087G>A	ENST00000512805.1	-	5	1024	c.616C>T	c.(616-618)Ctc>Ttc	p.L206F	GNB2L1_ENST00000511900.1_Missense_Mutation_p.L158F|GNB2L1_ENST00000376817.4_Missense_Mutation_p.L162F|GNB2L1_ENST00000511566.1_Missense_Mutation_p.L206F|GNB2L1_ENST00000504726.1_Intron	NM_006098.4	NP_006089.1	P63244	GBLP_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1	206					apoptosis|cell cycle|gastrulation|interspecies interaction between organisms|negative regulation of cell growth|negative regulation of phagocytosis|negative regulation of translation|negative regulation of Wnt receptor signaling pathway|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of gastrulation|positive regulation of GTPase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein homooligomerization|positive regulation of protein phosphorylation|regulation of cell cycle|regulation of cell division|regulation of establishment of cell polarity|regulation of protein localization|rhythmic process	cytoskeleton|dendrite|midbody|nucleus|perikaryon|perinuclear region of cytoplasm|phagocytic cup|small ribosomal subunit	ion channel inhibitor activity|protein kinase C binding|protein phosphatase binding|protein tyrosine kinase inhibitor activity|receptor tyrosine kinase binding|SH2 domain binding	p.L206I(1)		lung(3)|skin(2)	5	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11)		GAAGCACAGAGGGATCCATCT	0.522000													47	45					0	0	0.014410	0	0
MGAM	8972	broad.mit.edu	37	7	141730195	141730195	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr7:141730195G>A	ENST00000475668.2	+	11	1309	c.1255G>A	c.(1255-1257)Gag>Aag	p.E419K	MGAM_ENST00000549489.2_Missense_Mutation_p.E419K			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	419	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTATATGGATGAGAGAAGGGA	0.348000													7	13					0	0	0.004482	0	0
RRM2B	50484	broad.mit.edu	37	8	103236307	103236307	+	Silent	SNP	A	A	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr8:103236307A>G	ENST00000251810.3	-	5	760	c.517T>C	c.(517-519)Ttg>Ctg	p.L173L	RRM2B_ENST00000519962.1_Intron|RRM2B_ENST00000519317.1_Intron|RRM2B_ENST00000395912.2_Silent_p.L121L	NM_001172478.1|NM_015713.4	NP_001165949.1|NP_056528.2	Q7LG56	RIR2B_HUMAN	ribonucleotide reductase M2 B (TP53 inducible)	173					deoxyribonucleoside diphosphate metabolic process|DNA repair|nucleobase, nucleoside and nucleotide interconversion	nucleoplasm	ribonucleoside-diphosphate reductase activity|transition metal ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	9	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000728)			ATCCATCGCAAGGCCCAATCT	0.333000								Modulation of nucleotide pools					66	82					0	0	0.014410	0	0
ATP13A1	57130	broad.mit.edu	37	19	19766741	19766741	+	Splice_Site	SNP	C	C	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr19:19766741C>G	ENST00000357324.6	-	9	1241	c.1213_splice	c.e9-1	p.P405_splice	ATP13A1_ENST00000291503.5_Splice_Site_p.P287_splice	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	405					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.P405P(1)|p.?(1)		central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CGCTGTCAACCGCTGGGGAGA	0.652000													4	16					0	0	0.009096	0	0
DUSP26	78986	broad.mit.edu	37	8	33451188	33451188	+	Missense_Mutation	SNP	C	C	T	rs141858173		TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr8:33451188C>T	ENST00000256261.4	-	3	816	c.299G>A	c.(298-300)cGa>cAa	p.R100Q	DUSP26_ENST00000523956.1_Missense_Mutation_p.R100Q	NM_024025.1	NP_076930.1	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26 (putative)	100	Tyrosine-protein phosphatase.					Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		GGGCGTGCCTCGCCACCGGCT	0.632000													10	34					0	0	0.006214	0	0
TRIM48	79097	broad.mit.edu	37	11	55032387	55032387	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr11:55032387C>T	ENST00000417545.2	+	2	142	c.56C>T	c.(55-57)tCt>tTt	p.S19F		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	3						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						AACATGAATTCTGGAATCTCG	0.463000													89	188					0	0	0.014410	0	0
EPHA3	2042	broad.mit.edu	37	3	89456492	89456492	+	Silent	SNP	C	C	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr3:89456492C>G	ENST00000336596.2	+	8	1893	c.1668C>G	c.(1666-1668)ctC>ctG	p.L556L	EPHA3_ENST00000494014.1_Silent_p.L556L	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	556						extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TTATTCTCCTCACTGTTGTCA	0.408000										TSP Lung(6;0.00050)			10	13					0	0	0.010729	0	0
AFTPH	54812	broad.mit.edu	37	2	64780007	64780007	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr2:64780007C>T	ENST00000422803.1	+	2	1713	c.1399C>T	c.(1399-1401)Cac>Tac	p.H467Y	AFTPH_ENST00000409183.1_Missense_Mutation_p.H98Y|AFTPH_ENST00000238856.4_Missense_Mutation_p.H467Y|AFTPH_ENST00000238855.7_Missense_Mutation_p.H467Y|AFTPH_ENST00000409933.1_Missense_Mutation_p.H467Y			Q6ULP2	AFTIN_HUMAN	aftiphilin	467					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						GTCTTCAGAGCACTTTCCACA	0.413000													33	58					0	0	0.010818	0	0
PKD1L1	168507	broad.mit.edu	37	7	47898336	47898336	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr7:47898336C>G	ENST00000289672.2	-	27	4347	c.4297G>C	c.(4297-4299)Gaa>Caa	p.E1433Q		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1433	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TTCGAGTTTTCTTGCTCAGAG	0.438000													16	57					0	0	0.004990	0	0
RFX6	222546	broad.mit.edu	37	6	117198535	117198535	+	Silent	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr6:117198535C>T	ENST00000332958.2	+	1	113	c.97C>T	c.(97-99)Ctg>Ttg	p.L33L		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	33					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TGTGCAGCTCCTGGGCAAGGG	0.667000													15	6					0	0	0.004007	0	0
ENTPD8	377841	broad.mit.edu	37	9	140330690	140330690	+	Silent	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr9:140330690G>A	ENST00000371506.2	-	7	1008	c.825C>T	c.(823-825)ctC>ctT	p.L275L	ENTPD8_ENST00000344119.2_Silent_p.L275L|ENTPD8_ENST00000472938.1_Silent_p.L275L	NM_001033113.1	NP_001028285.1	Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	275						integral to membrane|plasma membrane	ATP binding			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		GGTAGCCGCTGAGGTAGCACG	0.706000													12	32					0	0	0.013537	0	0
ABCF1	23	broad.mit.edu	37	6	30546284	30546284	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr6:30546284G>C	ENST00000326195.8	+	6	531	c.419G>C	c.(418-420)aGt>aCt	p.S140T	ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Missense_Mutation_p.S140T	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	140					inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						CAGGATCAGAGTGAGGAAGAG	0.502000													19	5					0	0	0.012319	0	0
PLBD1	79887	broad.mit.edu	37	12	14706306	14706306	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr12:14706306C>G	ENST00000240617.5	-	2	808	c.156G>C	c.(154-156)aaG>aaC	p.K52N		NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	52					lipid catabolic process	extracellular region	hydrolase activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						CTTGTACTGTCTTTTCAGCAG	0.413000													26	38					0	0	0.005443	0	0
SRGAP1	57522	broad.mit.edu	37	12	64521813	64521813	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr12:64521813G>A	ENST00000355086.3	+	21	3237	c.2713G>A	c.(2713-2715)Gac>Aac	p.D905N	SRGAP1_ENST00000357825.3_Missense_Mutation_p.D882N|SRGAP1_ENST00000543397.1_Missense_Mutation_p.D842N	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	905					axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CCTCAACAATGACAGTCCTGA	0.617000													31	54					0	0	0.010818	0	0
SELP	6403	broad.mit.edu	37	1	169576215	169576215	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr1:169576215G>C	ENST00000263686.6	-	9	1528	c.1491C>G	c.(1489-1491)aaC>aaG	p.N497K	SELP_ENST00000367793.2_Missense_Mutation_p.N435K|SELP_ENST00000458599.2_Missense_Mutation_p.N435K|SELP_ENST00000367792.2_Missense_Mutation_p.N435K|SELP_ENST00000367791.2_Missense_Mutation_p.N373K|SELP_ENST00000367786.2_Missense_Mutation_p.N435K|SELP_ENST00000367788.2_Missense_Mutation_p.N435K|SELP_ENST00000367794.2_Missense_Mutation_p.N435K	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	497	Sushi 5.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	CAGAATTCCAGTTTCCAGTAG	0.453000													38	40					0	0	0.007835	0	0
CPS1	1373	broad.mit.edu	37	2	211473156	211473156	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr2:211473156C>T	ENST00000233072.5	+	19	2460	c.2264C>T	c.(2263-2265)tCc>tTc	p.S755F	CPS1_ENST00000451903.2_Missense_Mutation_p.S304F|CPS1_ENST00000430249.2_Missense_Mutation_p.S761F	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	755					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		AACGTCGTATCCGGGAAGACA	0.423000													27	47					0	0	0.006320	0	0
SERPINH1	871	broad.mit.edu	37	11	75277799	75277799	+	Silent	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr11:75277799C>T	ENST00000524558.1	+	2	1840	c.405C>T	c.(403-405)taC>taT	p.Y135Y	SERPINH1_ENST00000358171.3_Silent_p.Y135Y|SERPINH1_ENST00000533603.1_Silent_p.Y135Y|SERPINH1_ENST00000530284.1_Silent_p.Y135Y			P50454	SERPH_HUMAN	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	135					regulation of proteolysis|response to unfolded protein	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	collagen binding|serine-type endopeptidase inhibitor activity			endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					GCCGACTGTACGGACCCAGCT	0.642000													16	25					0	0	0.003163	0	0
BOD1L1	259282	broad.mit.edu	37	4	13610154	13610154	+	Splice_Site	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr4:13610154C>T	ENST00000040738.5	-	8	1877	c.1742_splice	c.e8+1	p.R581_splice		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	581	Lys-rich.						DNA binding										AAATATGTACCTTGAATCTTT	0.363000													3	4					0	0	0.009096	0	0
TEX2	55852	broad.mit.edu	37	17	62290905	62290905	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr17:62290905T>A	ENST00000258991.3	-	2	757	c.673A>T	c.(673-675)Act>Tct	p.T225S	TEX2_ENST00000583097.1_Missense_Mutation_p.T225S|TEX2_ENST00000584379.1_Missense_Mutation_p.T225S			Q8IWB9	TEX2_HUMAN	testis expressed 2	225					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		TGCCGGGAAGTGTCCGTGGAC	0.532000													41	58					0	0	0.007835	0	0
PTPRN2	5799	broad.mit.edu	37	7	157959789	157959789	+	Silent	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr7:157959789G>A	ENST00000389413.3	-	6	847	c.744C>T	c.(742-744)gcC>gcT	p.A248A	PTPRN2_ENST00000389418.4_Silent_p.A248A|PTPRN2_ENST00000389416.4_Silent_p.A231A|PTPRN2_ENST00000404321.2_Silent_p.A271A|PTPRN2_ENST00000409483.1_Silent_p.A210A	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	248						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GGGCAGCATAGGCACTGAGGG	0.662000													13	12					0	0	0.001855	0	0
CASP7	840	broad.mit.edu	37	10	115481445	115481445	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr10:115481445G>A	ENST00000369321.2	+	5	702	c.382G>A	c.(382-384)Gag>Aag	p.E128K	CASP7_ENST00000369318.3_Missense_Mutation_p.E95K|CASP7_ENST00000468790.1_3'UTR|CASP7_ENST00000452490.2_Missense_Mutation_p.E70K|CASP7_ENST00000345633.4_Missense_Mutation_p.E95K|CASP7_ENST00000369331.4_Missense_Mutation_p.E95K|CASP7_ENST00000369315.1_Missense_Mutation_p.E95K	NM_033338.5	NP_203124.1	P55210	CASP7_HUMAN	caspase 7, apoptosis-related cysteine peptidase	95					activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis	cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm	cysteine-type endopeptidase activity|protein binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8		Colorectal(252;0.0946)|Breast(234;0.188)		Epithelial(162;0.012)|all cancers(201;0.014)		CAAAGATGCCGAGGCGCTCTT	0.502000													39	71					0	0	0.005524	0	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													4	60					0	0	0.009096	0	0
ZNF347	84671	broad.mit.edu	37	19	53644866	53644866	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr19:53644866T>A	ENST00000452676.2	-	5	1644	c.1218A>T	c.(1216-1218)gaA>gaT	p.E406D	ZNF347_ENST00000601469.2_Missense_Mutation_p.E406D|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000334197.7_Missense_Mutation_p.E405D	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		CCTTGCCACATTCATTACATT	0.423000													42	60					0	0	0.006230	0	0
MFI2	4241	broad.mit.edu	37	3	196735690	196735690	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr3:196735690C>T	ENST00000296350.5	-	12	1785	c.1672G>A	c.(1672-1674)Ggc>Agc	p.G558S		NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	558	Transferrin-like 2.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		CTGAAGGCGCCGCGGTAGCCG	0.672000													26	60					0	0	0.006320	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999149	46999149	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr10:46999149G>C	ENST00000374314.4	+	1	1224	c.269G>C	c.(268-270)tGg>tCg	p.W90S	GPRIN2_ENST00000374317.1_Missense_Mutation_p.W90S			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	90										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GGAGGCCACTGGTGGAGCAGC	0.667000													9	58					0	0	0.004007	0	0
MICU3	286097	broad.mit.edu	37	8	16884802	16884802	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr8:16884802G>T	ENST00000318063.5	+	1	56	c.14G>T	c.(13-15)cGa>cTa	p.R5L		NM_181723.2	NP_859074.1			mitochondrial calcium uptake family, member 3									p.R5P(1)									GCTGCGCTGCGAAGGCTCTTG	0.731000													8	15					1.58986e-06	1.7539e-06	0.008291	1	0
MTHFD2P1	100287639	broad.mit.edu	37	3	95374086	95374086	+	RNA	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr3:95374086C>T	ENST00000494840.1	-	0	1775					NR_077228.1																						CTATTGTGAACAGGTTTAGAA	0.393000													4	22					0	0	0.009096	0	0
OR10S1	219873	broad.mit.edu	37	11	123847492	123847492	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr11:123847492T>A	ENST00000531945.1	-	1	996	c.907A>T	c.(907-909)Act>Tct	p.T303S		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TTCCGCAAAGTGTAAATGAAT	0.537000													43	83					0	0	0.010771	0	0
ALKBH1	8846	broad.mit.edu	37	14	78161201	78161201	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr14:78161201C>T	ENST00000216489.3	-	3	350	c.335G>A	c.(334-336)tGg>tAg	p.W112*	ALKBH1_ENST00000554097.1_5'UTR	NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	112					DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		CACCCAGTGCCACTGGTAACC	0.418000													27	51					0	0	0.003954	0	0
MMP21	118856	broad.mit.edu	37	10	127462420	127462420	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr10:127462420A>T	ENST00000368808.3	-	2	676	c.677T>A	c.(676-678)aTc>aAc	p.I226N		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	226					proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GCCCAGCTTGATGTCGACCGC	0.726000													22	41					0	0	0.006320	0	0
NUTM1	256646	broad.mit.edu	37	15	34638159	34638159	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr15:34638159G>T	ENST00000537011.1	+	2	405	c.23G>T	c.(22-24)gGa>gTa	p.G8V	NUTM1_ENST00000333756.4_5'UTR|NUTM1_ENST00000438749.3_Intron					NUT midline carcinoma, family member 1																		CTGGGTCCTGGACCTGACTGC	0.527000													24	44					1.64293e-13	1.92715e-13	0.003330	1	0
MYO7B	4648	broad.mit.edu	37	2	128384629	128384629	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr2:128384629T>A	ENST00000389524.4	+	31	4270	c.4217T>A	c.(4216-4218)cTg>cAg	p.L1406Q	MYO7B_ENST00000409816.2_Missense_Mutation_p.L1406Q|MYO7B_ENST00000428314.1_Missense_Mutation_p.L1406Q|MYO7B_ENST00000409090.1_Missense_Mutation_p.L259Q			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1406	FERM 1.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CAGTGGCCGCTGCTCTTCTCC	0.637000													7	12					0	0	0.003080	0	0
NBEA	26960	broad.mit.edu	37	13	35619136	35619136	+	Silent	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr13:35619136G>A	ENST00000400445.3	+	3	1113	c.579G>A	c.(577-579)aaG>aaA	p.K193K	NBEA_ENST00000379939.2_Silent_p.K193K|NBEA_ENST00000310336.4_Silent_p.K193K|NBEA_ENST00000540320.1_Silent_p.K193K	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	193						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TCACTGTCAAGGAGTTGAAGC	0.418000													9	14					0	0	0.006214	0	0
XYLT1	64131	broad.mit.edu	37	16	17292261	17292261	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr16:17292261T>A	ENST00000261381.6	-	5	1181	c.1097A>T	c.(1096-1098)tAc>tTc	p.Y366F		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	366					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCGATGCAGGTAATTAGAGCG	0.587000													10	17					0	0	0.008291	0	0
PCDHGB4	8641	broad.mit.edu	37	5	140769259	140769259	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr5:140769259C>T	ENST00000519479.1	+	1	1808	c.1808C>T	c.(1807-1809)tCc>tTc	p.S603F	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTGGCTGTCCTACCACGTG	0.662000													28	21					0	0	0.006320	0	0
CLSTN2	64084	broad.mit.edu	37	3	140281753	140281753	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr3:140281753C>A	ENST00000458420.3	+	14	2503	c.2313C>A	c.(2311-2313)tgC>tgA	p.C771*		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	771					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GGATTAAGTGCTCAGAACTCA	0.562000										HNSCC(16;0.037)			10	38					0.000673444	0.00071457	0.008291	1	0
FOSB	2354	broad.mit.edu	37	19	45971882	45971882	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr19:45971882C>T	ENST00000353609.3	+	1	630	c.38C>T	c.(37-39)tCc>tTc	p.S13F	FOSB_ENST00000590335.1_Missense_Mutation_p.S13F|FOSB_ENST00000417353.2_Missense_Mutation_p.S13F|FOSB_ENST00000585836.1_Missense_Mutation_p.S13F|FOSB_ENST00000443841.2_Missense_Mutation_p.S13F|FOSB_ENST00000592436.1_Missense_Mutation_p.S13F|ERCC1_ENST00000423698.2_Intron|FOSB_ENST00000591858.1_Missense_Mutation_p.S13F	NM_006732.2	NP_006723.2	P53539	FOSB_HUMAN	FBJ murine osteosarcoma viral oncogene homolog B	13					behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	13		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		GACTCCGGCTCCCGGTGCAGC	0.632000													56	66					0	0	0.014410	0	0
VPS72	6944	broad.mit.edu	37	1	151150569	151150569	+	Silent	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr1:151150569C>T	ENST00000354473.4	-	5	651	c.615G>A	c.(613-615)cgG>cgA	p.R205R	VPS72_ENST00000496809.1_5'UTR	NM_001271087.1|NM_005997.1	NP_001258016.1|NP_005988.1	Q15906	VPS72_HUMAN	vacuolar protein sorting 72 homolog (S. cerevisiae)	205					chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CGGGGCACTTCCGCTTCTTAT	0.493000													19	57					0	0	0.006122	0	0
DOCK9	23348	broad.mit.edu	37	13	99512635	99512635	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr13:99512635G>A	ENST00000442173.1	-	33	3895	c.3721C>T	c.(3721-3723)Ctt>Ttt	p.L1241F	DOCK9_ENST00000448493.2_Intron|DOCK9_ENST00000376460.1_Intron|DOCK9_ENST00000339416.2_Intron|DOCK9_ENST00000461998.1_5'UTR	NM_001130049.1|NM_001130050.1	NP_001123521.1|NP_001123522.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	0					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GTGGAGAGAAGCCCACAAGAG	0.547000													6	5					0	0	0.001984	0	0
KALRN	8997	broad.mit.edu	37	3	124369736	124369736	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr3:124369736C>T	ENST00000360013.3	+	38	5870	c.5743C>T	c.(5743-5745)Cct>Tct	p.P1915S	KALRN_ENST00000291478.4_Missense_Mutation_p.P218S|KALRN_ENST00000459915.1_Missense_Mutation_p.P7S|KALRN_ENST00000428018.2_Missense_Mutation_p.P186S|KALRN_ENST00000393496.1_Missense_Mutation_p.P256S	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1914					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						ACCCACACCTCCTAAAAACCC	0.542000													23	55					0	0	0.003954	0	0
APLP2	334	broad.mit.edu	37	11	130005458	130005458	+	Splice_Site	SNP	A	A	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr11:130005458A>G	ENST00000263574.5	+	13	1757	c.1684_splice	c.e13-1	p.D562_splice	APLP2_ENST00000345598.5_Splice_Site_p.D333_splice|APLP2_ENST00000528499.1_Splice_Site_p.D506_splice|APLP2_ENST00000278756.7_Splice_Site_p.D572_splice|APLP2_ENST00000338167.5_Splice_Site_p.D562_splice|APLP2_ENST00000543137.1_Splice_Site_p.D469_splice|APLP2_ENST00000539648.1_Splice_Site_p.D350_splice	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	562					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		TCTTCATCAGATGAGCTCCTT	0.587000													45	83					0	0	0.014410	0	0
LRG1	116844	broad.mit.edu	37	19	4538051	4538051	+	Silent	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr19:4538051C>T	ENST00000306390.6	-	2	1405	c.945G>A	c.(943-945)caG>caA	p.Q315Q	CTB-50L17.14_ENST00000586020.1_Intron	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	315	LRRCT.					extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTTTTGGGCCTGAAGCCAAC	0.592000													40	35					0	0	0.005524	0	0
AIDA	64853	broad.mit.edu	37	1	222843263	222843263	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr1:222843263T>C	ENST00000340020.6	-	10	1099	c.893A>G	c.(892-894)cAt>cGt	p.H298R	AIDA_ENST00000355727.2_Missense_Mutation_p.H216R|AIDA_ENST00000541237.1_Missense_Mutation_p.H274R|AIDA_ENST00000474863.1_5'UTR	NM_022831.2	NP_073742.2	Q96BJ3	AIDA_HUMAN	axin interactor, dorsalization associated	298					dorsal/ventral pattern formation|negative regulation of JNK cascade|negative regulation of JUN kinase activity|regulation of protein homodimerization activity					kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10						TTGATGTAGATGAAGATAAAG	0.353000													18	31					0	0	0.003330	0	0
CELSR1	9620	broad.mit.edu	37	22	46931727	46931727	+	Silent	SNP	G	G	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr22:46931727G>T	ENST00000262738.3	-	1	1340	c.1341C>A	c.(1339-1341)atC>atA	p.I447I	CELSR1_ENST00000395964.1_Silent_p.I447I	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	447	Cadherin 2.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CCTCCACCTCGATGTACACGG	0.667000													16	35					1.52009e-12	1.76077e-12	0.003163	1	0
NARG2	79664	broad.mit.edu	37	15	60741642	60741642	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr15:60741642C>G	ENST00000261520.4	-	10	1758	c.1524G>C	c.(1522-1524)ttG>ttC	p.L508F	NARG2_ENST00000439632.1_Missense_Mutation_p.L371F	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2	508						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						CAGATGTTTTCAAGTCACTAT	0.333000													28	51					0	0	0.009535	0	0
RAB3GAP1	22930	broad.mit.edu	37	2	135851202	135851202	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr2:135851202A>T	ENST00000264158.8	+	5	344	c.301A>T	c.(301-303)Atg>Ttg	p.M101L	RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.M57L|RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.M101L	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	101						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		TCCACAATCTATGCAAGATTT	0.348000													21	39					0	0	0.010504	0	0
MARCH10	162333	broad.mit.edu	37	17	60821758	60821758	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr17:60821758C>A	ENST00000544856.2	-	6	889	c.511G>T	c.(511-513)Gtg>Ttg	p.V171L	MARCH10_ENST00000311269.5_Missense_Mutation_p.V172L|MARCH10_ENST00000583600.1_Missense_Mutation_p.V210L|MARCH10_ENST00000456609.2_Missense_Mutation_p.V172L			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	172							ligase activity|zinc ion binding	p.V172L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GGAACCGGCACCTTTGCAGGC	0.557000													52	96					3.89483e-19	4.79098e-19	0.014410	1	0
LCORL	254251	broad.mit.edu	37	4	17910776	17910776	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr4:17910776T>A	ENST00000382226.5	-	5	731	c.623A>T	c.(622-624)gAg>gTg	p.E208V	LCORL_ENST00000326877.3_Missense_Mutation_p.E208V|LCORL_ENST00000382224.1_Missense_Mutation_p.E124V|LCORL_ENST00000539056.1_Missense_Mutation_p.E121V	NM_001166139.1	NP_001159611.1	Q8N3X6	LCORL_HUMAN	ligand dependent nuclear receptor corepressor-like	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						GCCTTCCTGCTCTTCCTGAAG	0.348000													28	42					0	0	0.008361	0	0
CD34	947	broad.mit.edu	37	1	208072364	208072364	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr1:208072364G>A	ENST00000356522.4	-	3	791	c.470C>T	c.(469-471)cCc>cTc	p.P157L	CD34_ENST00000485761.1_5'UTR|CD34_ENST00000537704.1_Intron|CD34_ENST00000310833.7_Missense_Mutation_p.P157L	NM_001773.2	NP_001764.1	P28906	CD34_HUMAN	CD34 molecule	157					cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding	p.P157H(1)		kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						GGGTTTAGTGGGAGATGTTGC	0.468000													78	185					0	0	0.014410	0	0
PPAN	56342	broad.mit.edu	37	19	10225320	10225320	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr19:10225320C>G	ENST00000556468.1	+	13	2318	c.2291C>G	c.(2290-2292)cCa>cGa	p.P764R	PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.P764R|PPAN-P2RY11_ENST00000428358.1_3'UTR|P2RY11_ENST00000321826.4_Missense_Mutation_p.P344R					peter pan homolog (Drosophila)											endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			AGCTGGAACCCAGAGGACGCC	0.657000													14	50					0	0	0.001855	0	0
GGNBP2	79893	broad.mit.edu	37	17	34943490	34943490	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr17:34943490C>T	ENST00000304718.4	+	13	2021	c.1705C>T	c.(1705-1707)Cac>Tac	p.H569Y		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	569					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		AAATACCATGCACACAGTGTT	0.463000													14	64					0	0	0.002450	0	0
PDGFRB	5159	broad.mit.edu	37	5	149503837	149503837	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr5:149503837G>T	ENST00000261799.4	-	14	2468	c.1999C>A	c.(1999-2001)Ctg>Atg	p.L667M		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	667	Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCCCCCAACAGGTTGACCACG	0.632000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								19	22					4.35082e-09	4.89687e-09	0.010504	1	0
AGO1	26523	broad.mit.edu	37	1	36372612	36372612	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr1:36372612T>G	ENST00000373204.4	+	12	1687	c.1474T>G	c.(1474-1476)Tat>Gat	p.Y492D	AGO1_ENST00000373206.1_Missense_Mutation_p.Y417D	NM_012199.2	NP_036331.1			argonaute RISC catalytic component 1																		TTTCTGCAAATATGCACAGGG	0.537000													37	52					0	0	0.006999	0	0
DNAH5	1767	broad.mit.edu	37	5	13928288	13928288	+	Splice_Site	SNP	C	C	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr5:13928288C>A	ENST00000265104.4	-	3	297		c.e3-1			NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5						microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTCTTTCAATCTGGGAAAAAG	0.318000									Kartagener syndrome				23	72					3.5997e-14	4.25837e-14	0.014323	1	0
ACAP1	9744	broad.mit.edu	37	17	7251469	7251469	+	Silent	SNP	C	C	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr17:7251469C>G	ENST00000158762.3	+	16	1643	c.1437C>G	c.(1435-1437)gtC>gtG	p.V479V		NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	479	Arf-GAP.|Required for interaction with GULP1.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						TGGGAAATGTCATCATCAACC	0.617000													7	24					0	0	0.001984	0	0
SPEN	23013	broad.mit.edu	37	1	16254612	16254612	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr1:16254612A>G	ENST00000375759.3	+	11	2081	c.1877A>G	c.(1876-1878)tAt>tGt	p.Y626C		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	626	Arg-rich.|Tyr-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TCCTACGACTATAACCAAGAT	0.398000													19	24					0	0	0.007413	0	0
RCOR1	23186	broad.mit.edu	37	14	103148296	103148296	+	Silent	SNP	A	A	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr14:103148296A>G	ENST00000262241.6	+	3	652	c.426A>G	c.(424-426)caA>caG	p.Q142Q	RCOR1_ENST00000570597.1_Silent_p.Q139Q	NM_015156.3	NP_055971.2	Q9UKL0	RCOR1_HUMAN	REST corepressor 1	139	ELM2.|Interaction with HDAC1.				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						CACCCAATCAAAATCTGTCAG	0.373000													13	18					0	0	0.003163	0	0
SLC27A6	28965	broad.mit.edu	37	5	128302163	128302163	+	Silent	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr5:128302163G>A	ENST00000262462.4	+	1	1343	c.333G>A	c.(331-333)ctG>ctA	p.L111L	SLC27A6_ENST00000506176.1_Silent_p.L111L|SLC27A6_ENST00000395266.1_Silent_p.L111L			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	111					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TGGCTCTGCTGATGAGCAATG	0.552000													13	10					0	0	0.013537	0	0
CUX2	23316	broad.mit.edu	37	12	111746236	111746236	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr12:111746236G>A	ENST00000261726.6	+	14	1318	c.1164G>A	c.(1162-1164)atG>atA	p.M388I		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	388						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CCTAGGGCATGGCCAAGCCTG	0.612000													18	27					0	0	0.006122	0	0
ZNF521	25925	broad.mit.edu	37	18	22807174	22807174	+	Silent	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr18:22807174C>T	ENST00000361524.3	-	4	856	c.708G>A	c.(706-708)agG>agA	p.R236R	ZNF521_ENST00000584787.1_Silent_p.R16R|ZNF521_ENST00000538137.2_Silent_p.R236R	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	236					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AGTCCTCCATCCTGGAACCGG	0.522000			T	PAX5	ALL								13	67					0	0	0.001855	0	0
PRPSAP2	5636	broad.mit.edu	37	17	18833957	18833957	+	Silent	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr17:18833957C>T	ENST00000268835.2	+	12	1339	c.1056C>T	c.(1054-1056)atC>atT	p.I352I	PRPSAP2_ENST00000536323.1_Silent_p.I266I|PRPSAP2_ENST00000542013.1_Silent_p.I303I|PRPSAP2_ENST00000419071.2_Silent_p.I312I	NM_002767.3	NP_002758.1	O60256	KPRB_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 2	352					nucleotide biosynthetic process		enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						TCCGTCGGATCCACAATGGGG	0.458000													12	23					0	0	0.013537	0	0
TMEM67	91147	broad.mit.edu	37	8	94821068	94821068	+	Splice_Site	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr8:94821068G>A	ENST00000453321.3	+	24	2498	c.2439_splice	c.e24-1	p.E814_splice	TMEM67_ENST00000409623.3_Splice_Site_p.E733_splice	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	814					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			AACTTTTCAGGAAAATTTGTG	0.308000													4	18					0	0	0.000602	0	0
SYK	6850	broad.mit.edu	37	9	93650843	93650843	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr9:93650843G>A	ENST00000375754.4	+	13	1917	c.1769G>A	c.(1768-1770)cGg>cAg	p.R590Q	SYK_ENST00000375746.1_Missense_Mutation_p.R590Q|SYK_ENST00000375751.4_Missense_Mutation_p.R567Q|SYK_ENST00000375747.1_Missense_Mutation_p.R567Q	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	590	Protein kinase.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						AAAGGAGAGCGGATGGGGTGC	0.438000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""								6	16					0	0	0.001984	0	0
FAM189B	10712	broad.mit.edu	37	1	155223908	155223908	+	Silent	SNP	A	A	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr1:155223908A>T	ENST00000361361.2	-	3	869	c.360T>A	c.(358-360)gcT>gcA	p.A120A	FAM189B_ENST00000472550.1_Intron|FAM189B_ENST00000350210.2_Intron|FAM189B_ENST00000368368.3_Silent_p.A101A	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	120						integral to membrane	WW domain binding			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						GGGCCAGTTGAGCATTCTTAC	0.532000													83	111					0	0	0.014410	0	0
SEZ6	124925	broad.mit.edu	37	17	27283247	27283247	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr17:27283247C>G	ENST00000317338.12	-	16	3310	c.2882G>C	c.(2881-2883)cGc>cCc	p.R961P	PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000360295.9_Missense_Mutation_p.R961P|SEZ6_ENST00000442608.3_Missense_Mutation_p.R948P|SEZ6_ENST00000335960.6_Silent_p.P493P			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	961						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			ggggcgggggcggggCAGCTG	0.582000													3	13					0	0	0.004672	0	0
GPR75	10936	broad.mit.edu	37	2	54080317	54080317	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr2:54080317T>C	ENST00000394705.2	-	2	1847	c.1577A>G	c.(1576-1578)gAa>gGa	p.E526G	ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	526						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GCTGTCATATTCCTGCACTAA	0.408000													29	70					0	0	0.008361	0	0
NUTM1	256646	broad.mit.edu	37	15	34640628	34640628	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr15:34640628C>T	ENST00000537011.1	+	3	941	c.559C>T	c.(559-561)Ccg>Tcg	p.P187S	NUTM1_ENST00000333756.4_Missense_Mutation_p.P159S|NUTM1_ENST00000438749.3_Missense_Mutation_p.P177S					NUT midline carcinoma, family member 1																		TCCAGGCCTTCCGCCTCAGCC	0.587000													11	28					0	0	0.008291	0	0
GULP1	51454	broad.mit.edu	37	2	189458684	189458684	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr2:189458684A>T	ENST00000409843.1	+	13	1541	c.872A>T	c.(871-873)gAc>gTc	p.D291V	GULP1_ENST00000359135.3_Silent_p.G287G|GULP1_ENST00000409805.1_Silent_p.G184G|GULP1_ENST00000409580.1_Silent_p.G287G|GULP1_ENST00000409830.1_Silent_p.G287G|GULP1_ENST00000409609.1_Silent_p.G287G	NM_001252668.1|NM_016315.3	NP_001239597.1|NP_057399.1	Q9UBP9	GULP1_HUMAN	GULP, engulfment adaptor PTB domain containing 1	0					apoptosis|lipid transport|phagocytosis, engulfment	cytoplasm|intracellular membrane-bounded organelle	signal transducer activity			endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)			TCAAAATGGGACTAACTCTTG	0.338000													9	26					0	0	0.008291	0	0
ANKRD26	22852	broad.mit.edu	37	10	27366291	27366291	+	Silent	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr10:27366291C>T	ENST00000376087.4	-	9	1218	c.1053G>A	c.(1051-1053)tcG>tcA	p.S351S	ANKRD26_ENST00000436985.2_Silent_p.S400S|ANKRD26_ENST00000466890.1_5'UTR	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	351						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						GGTTTGCTAACGACTTGTGGG	0.403000													38	58					0	0	0.006999	0	0
RNF10	9921	broad.mit.edu	37	12	121000765	121000765	+	Silent	SNP	G	G	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr12:121000765G>T	ENST00000325954.4	+	8	1607	c.1146G>T	c.(1144-1146)ctG>ctT	p.L382L	RNF10_ENST00000413266.2_Silent_p.L382L	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	382					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AAGAGGCTCTGTCGGGATTGG	0.537000													30	48					6.00712e-18	7.32447e-18	0.012213	1	0
OR11H4	390442	broad.mit.edu	37	14	20711094	20711094	+	Silent	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr14:20711094C>T	ENST00000315409.2	+	1	197	c.144C>T	c.(142-144)acC>acT	p.T48T		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		ATGTCTTGACCTTGCTGGGAA	0.443000													30	60					0	0	0.006320	0	0
HTR7	3363	broad.mit.edu	37	10	92509226	92509226	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr10:92509226G>C	ENST00000371721.3	-	2	907	c.665C>G	c.(664-666)gCt>gGt	p.A222G	HTR7_ENST00000371719.2_Missense_Mutation_p.A222G|HTR7_ENST00000277874.6_Missense_Mutation_p.A222G|HTR7_ENST00000336152.3_Missense_Mutation_p.A222G			P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	222					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	TACATTCTGAGCCCATCCAAA	0.483000													40	58					0	0	0.009718	0	0
TRPM7	54822	broad.mit.edu	37	15	50906378	50906378	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr15:50906378C>T	ENST00000313478.7	-	14	1858	c.1577G>A	c.(1576-1578)tGc>tAc	p.C526Y	TRPM7_ENST00000560955.1_Missense_Mutation_p.C526Y	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	526					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		AGTATAGGTGCATCTGTAGGT	0.328000													19	39					0	0	0.008871	0	0
COL6A3	1293	broad.mit.edu	37	2	238287849	238287849	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr2:238287849G>C	ENST00000295550.4	-	6	2379	c.1927C>G	c.(1927-1929)Ctt>Gtt	p.L643V	COL6A3_ENST00000346358.4_Intron|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000409809.1_Missense_Mutation_p.L437V|COL6A3_ENST00000392003.2_Missense_Mutation_p.L236V|COL6A3_ENST00000353578.4_Missense_Mutation_p.L437V|COL6A3_ENST00000347401.3_Missense_Mutation_p.L442V|COL6A3_ENST00000392004.3_Missense_Mutation_p.L437V	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	643	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCATCCAAAAGAAAGATGATA	0.388000													11	24					0	0	0.008291	0	0
GPC6	10082	broad.mit.edu	37	13	95055462	95055462	+	Silent	SNP	G	G	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr13:95055462G>T	ENST00000377047.4	+	9	2274	c.1659G>T	c.(1657-1659)ctG>ctT	p.L553L		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	553						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				TGCAGAGACTGTGCAGATAAT	0.517000													6	41					8.12818e-05	8.6909e-05	0.001984	1	0
SYNCRIP	10492	broad.mit.edu	37	6	86324795	86324795	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr6:86324795G>A	ENST00000503906.1	-	1	157	c.158C>T	c.(157-159)cCc>cTc	p.P53L	SYNCRIP_ENST00000355238.6_Silent_p.P517P|SYNCRIP_ENST00000369622.3_Silent_p.P517P																							CTCTACCGCGGGGAGGAGCAG	0.577000													85	45					0	0	0.014410	0	0
STAG1	10274	broad.mit.edu	37	3	136141433	136141433	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr3:136141433T>C	ENST00000383202.2	-	19	2112	c.1856A>G	c.(1855-1857)cAg>cGg	p.Q619R	STAG1_ENST00000536929.1_Missense_Mutation_p.Q203R|STAG1_ENST00000236698.5_Missense_Mutation_p.Q619R|STAG1_ENST00000434713.2_Missense_Mutation_p.Q393R	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	619					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						AAACTTAATCTGTTTTAATAA	0.308000													21	52					0	0	0.008871	0	0
CDX1	1044	broad.mit.edu	37	5	149562339	149562339	+	Silent	SNP	C	C	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr5:149562339C>A	ENST00000231656.8	+	2	536	c.454C>A	c.(454-456)Cgg>Agg	p.R152R		NM_001804.2	NP_001795.2	P47902	CDX1_HUMAN	caudal type homeobox 1	152						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|lung(1)|ovary(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGTAAGACTCGGACCAAGGA	0.557000													97	73					9.72315e-31	1.21758e-30	0.014410	1	0
CSGALNACT2	55454	broad.mit.edu	37	10	43650762	43650762	+	Silent	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr10:43650762G>A	ENST00000374466.3	+	2	500	c.165G>A	c.(163-165)gaG>gaA	p.E55E	CSGALNACT2_ENST00000374464.1_Silent_p.E55E	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	55					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ATGGTAAAGAGTATTATCAAG	0.418000													15	44					0	0	0.003163	0	0
DOCK8	81704	broad.mit.edu	37	9	289552	289552	+	Silent	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr9:289552C>T	ENST00000432829.2	+	4	487	c.171C>T	c.(169-171)taC>taT	p.Y57Y	DOCK8_ENST00000453981.1_Silent_p.Y125Y|DOCK8_ENST00000469391.1_Silent_p.Y57Y	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	125					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TTCAGACCTACATCCGTGAGT	0.333000													9	47					0	0	0.013537	0	0
MCF2L2	23101	broad.mit.edu	37	3	182897459	182897459	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr3:182897459C>T	ENST00000328913.3	-	29	3424	c.3127G>A	c.(3127-3129)Gac>Aac	p.D1043N	MCF2L2_ENST00000473233.1_Missense_Mutation_p.D1043N	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	1043					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TGACTGTCGTCCGACTGGAAA	0.587000													85	82					0	0	0.014410	0	0
MYEOV2	150678	broad.mit.edu	37	2	241069334	241069334	+	Silent	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr2:241069334C>T	ENST00000307266.3	-	4	374	c.375G>A	c.(373-375)tcG>tcA	p.S125S		NM_138336.1	NP_612209.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2	0										breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		TTACCTCTTCCGACACCACAG	0.617000													34	65					0	0	0.006230	0	0
NAV2	89797	broad.mit.edu	37	11	20083856	20083856	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr11:20083856A>G	ENST00000396085.1	+	20	5196	c.4835A>G	c.(4834-4836)cAt>cGt	p.H1612R	NAV2_ENST00000540292.1_Missense_Mutation_p.H1599R|NAV2_ENST00000527559.2_Missense_Mutation_p.H1597R|NAV2_ENST00000396087.3_Missense_Mutation_p.H1668R|NAV2_ENST00000360655.4_Missense_Mutation_p.H1548R|NAV2_ENST00000533917.1_Missense_Mutation_p.H676R|NAV2_ENST00000349880.4_Missense_Mutation_p.H1612R|NAV2_ENST00000311043.8_Missense_Mutation_p.H676R	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1668	Ser-rich.					nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TTAATAGTTCATGGATCCTCA	0.423000													11	50					0	0	0.013537	0	0
TRPM7	54822	broad.mit.edu	37	15	50906377	50906377	+	Silent	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr15:50906377G>A	ENST00000313478.7	-	14	1859	c.1578C>T	c.(1576-1578)tgC>tgT	p.C526C	TRPM7_ENST00000560955.1_Silent_p.C526C	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	526					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TAGTATAGGTGCATCTGTAGG	0.323000													18	38					0	0	0.007413	0	0
APLP1	333	broad.mit.edu	37	19	36368688	36368688	+	Missense_Mutation	SNP	G	G	A	rs142258705		TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr19:36368688G>A	ENST00000221891.4	+	12	1705	c.1513G>A	c.(1513-1515)Gag>Aag	p.E505K	APLP1_ENST00000586861.1_Missense_Mutation_p.E499K|APLP1_ENST00000537454.2_Missense_Mutation_p.E466K|APLP1_ENST00000589298.2_3'UTR	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	505					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGGCAGCAGCGAGGACAAGGG	0.582000													17	44					0	0	0.006122	0	0
EYS	346007	broad.mit.edu	37	6	66205124	66205124	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr6:66205124C>A	ENST00000503581.1	-	4	717	c.180G>T	c.(178-180)ttG>ttT	p.L60F	EYS_ENST00000342421.5_Missense_Mutation_p.L60F|EYS_ENST00000393380.2_Missense_Mutation_p.L60F|EYS_ENST00000370616.2_Missense_Mutation_p.L60F|EYS_ENST00000370618.3_Missense_Mutation_p.L60F|EYS_ENST00000370621.3_Missense_Mutation_p.L60F	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	60					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TGTTTACACCCAAAAACCAGC	0.388000													15	75					1.3612e-06	1.50763e-06	0.003163	1	0
RYR2	6262	broad.mit.edu	37	1	237802492	237802492	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr1:237802492G>T	ENST00000366574.2	+	46	7423	c.7106G>T	c.(7105-7107)aGt>aTt	p.S2369I	RYR2_ENST00000360064.6_Missense_Mutation_p.S2367I|RYR2_ENST00000542537.1_Missense_Mutation_p.S2353I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2369	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGCGGATCCAGTAAAACACTG	0.418000													7	20					2.0095e-06	2.19937e-06	0.001984	1	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274291	39274291	+	Missense_Mutation	SNP	T	T	C	rs149439944	by1000genomes	TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr17:39274291T>C	ENST00000391413.2	-	1	315	c.277A>G	c.(277-279)Atg>Gtg	p.M93V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	93	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.M93V(4)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGCAGCACATAGACTGGCAG	0.662000													3	74					0	0	0.001168	0	0
NSD1	64324	broad.mit.edu	37	5	176709523	176709523	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr5:176709523C>T	ENST00000439151.2	+	19	5995	c.5950C>T	c.(5950-5952)Cga>Tga	p.R1984*	NSD1_ENST00000361032.4_Nonsense_Mutation_p.R1881*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.R1715*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.R1715*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1984	SET.		R -> Q (in SOTOSS; loss of enzyme activity).		negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ATGCAGAGCTCGAATTCGCTA	0.373000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			38	28					0	0	0.005524	0	0
MARCH4	57574	broad.mit.edu	37	2	217124378	217124378	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr2:217124378G>A	ENST00000273067.4	-	4	2656	c.890C>T	c.(889-891)tCg>tTg	p.S297L	AC012513.6_ENST00000417481.1_RNA	NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	297						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		GCGGTACACCGAGGGTCCTTC	0.537000													23	25					0	0	0.003954	0	0
RCHY1	25898	broad.mit.edu	37	4	76407873	76407873	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr4:76407873G>C	ENST00000324439.5	-	9	1059	c.661C>G	c.(661-663)Ctc>Gtc	p.L221V	RCHY1_ENST00000451788.1_3'UTR|RCHY1_ENST00000512706.1_Missense_Mutation_p.L199V|RCHY1_ENST00000380840.2_Missense_Mutation_p.L181V|RCHY1_ENST00000513257.1_Missense_Mutation_p.L212V	NM_001278536.1|NM_001278538.1|NM_001278539.1	NP_001265465.1|NP_001265467.1|NP_001265468.1	Q96PM5	ZN363_HUMAN	ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase	221					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nuclear speck|ubiquitin ligase complex	electron carrier activity|p53 binding|protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding	p.L221I(1)		large_intestine(2)|pancreas(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TCATTGCAGAGAATCTGAAAA	0.318000													7	17					0	0	0.001984	0	0
CNTROB	116840	broad.mit.edu	37	17	7839728	7839728	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr17:7839728G>C	ENST00000380262.3	+	5	1564	c.639G>C	c.(637-639)gaG>gaC	p.E213D	CNTROB_ENST00000563694.1_Missense_Mutation_p.E213D|CNTROB_ENST00000565740.1_Missense_Mutation_p.E213D|CNTROB_ENST00000380255.3_Missense_Mutation_p.E213D	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	213					centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				GAGTGTTAGAGCTACAGCAAC	0.527000													38	98					0	0	0.006230	0	0
SELPLG	6404	broad.mit.edu	37	12	109017613	109017613	+	Silent	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr12:109017613C>T	ENST00000388962.3	-	3	600	c.441G>A	c.(439-441)acG>acA	p.T147T	SELPLG_ENST00000550948.1_Silent_p.T157T|SELPLG_ENST00000228463.6_Silent_p.T173T	NM_003006.4	NP_002997.2	Q14242	SELPL_HUMAN	selectin P ligand	157	12 X 10 AA tandem repeats.				blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						CCTCCGTGGCCGTCAGTCGAG	0.637000													53	78					0	0	0.014410	0	0
NCBP1	4686	broad.mit.edu	37	9	100403139	100403139	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr9:100403139C>G	ENST00000375147.3	+	2	354	c.98C>G	c.(97-99)tCt>tGt	p.S33C		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	33	MIF4G.				gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding	p.S33F(1)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				CATTTGGAATCTTTAATATGT	0.358000													28	51					0	0	0.007291	0	0
SMARCA1	6594	broad.mit.edu	37	X	128599869	128599869	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chrX:128599869T>G	ENST00000371122.4	-	22	2898	c.2769A>C	c.(2767-2769)gaA>gaC	p.E923D	SMARCA1_ENST00000371123.1_Missense_Mutation_p.E911D|SMARCA1_ENST00000371121.3_Missense_Mutation_p.E911D	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	923					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						GAATTCTTGCTTCTCCACGTT	0.333000													29	21					0	0	0.007291	0	0
COL14A1	7373	broad.mit.edu	37	8	121256222	121256222	+	Silent	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr8:121256222C>T	ENST00000297848.3	+	20	2724	c.2454C>T	c.(2452-2454)gtC>gtT	p.V818V	COL14A1_ENST00000309791.4_Silent_p.V818V|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Silent_p.V723V	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	818	Fibronectin type-III 6.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GCGAAGGCGTCAGCGTCTCCG	0.498000													15	153					0	0	0.003163	0	0
PCDHGC3	5098	broad.mit.edu	37	5	140857945	140857945	+	Silent	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr5:140857945G>A	ENST00000308177.3	+	1	2366	c.2262G>A	c.(2260-2262)ccG>ccA	p.P754P	PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGATGTCGCCGCACCTTTACC	0.642000											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	51	37					0	0	0.014410	0	0
CTSA	5476	broad.mit.edu	37	20	44519983	44519983	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr20:44519983G>C	ENST00000372484.3	+	1	301	c.19G>C	c.(19-21)Gcg>Ccg	p.A7P	CTSA_ENST00000354880.5_Missense_Mutation_p.A7P|CTSA_ENST00000191018.5_5'UTR	NM_000308.2|NM_001127695.1	NP_000299.2|NP_001121167.1	P10619	PPGB_HUMAN	cathepsin A	0					intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				CAGTCCCCGGGCGCCTCCTGG	0.692000													4	2					0	0	0.001168	0	0
GPR98	84059	broad.mit.edu	37	5	90106737	90106737	+	Silent	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr5:90106737C>T	ENST00000405460.2	+	74	15756	c.15660C>T	c.(15658-15660)ttC>ttT	p.F5220F	GPR98_ENST00000425867.2_Silent_p.F881F	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5220					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATGGAACATTCAGCCTTGGGC	0.463000													28	32					0	0	0.005443	0	0
TTC16	158248	broad.mit.edu	37	9	130482360	130482360	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr9:130482360C>T	ENST00000373289.3	+	5	510	c.430C>T	c.(430-432)Caa>Taa	p.Q144*	PTRH1_ENST00000419060.1_Intron|PTRH1_ENST00000429848.1_Intron|TTC16_ENST00000393748.4_5'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	144							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						TCCCCAGGGACAATGCCTTTT	0.577000													45	51					0	0	0.010771	0	0
EPHA6	285220	broad.mit.edu	37	3	97439174	97439174	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr3:97439174G>C	ENST00000389672.5	+	15	2892	c.2854G>C	c.(2854-2856)Gat>Cat	p.D952H		NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	857						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CTCAGCAAGCGATGCATGGAG	0.463000													45	60					0	0	0.014410	0	0
FAT1	2195	broad.mit.edu	37	4	187538253	187538253	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr4:187538253A>C	ENST00000441802.2	-	11	9190	c.8981T>G	c.(8980-8982)cTt>cGt	p.L2994R		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2994	Cadherin 27.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CGTGATAGTAAGAAGGTAATT	0.413000										HNSCC(5;0.00058)			13	23					0	0	0.013537	0	0
MAGEL2	54551	broad.mit.edu	37	15	23890016	23890016	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr15:23890016C>T	ENST00000532292.1	-	1	1159	c.1065G>A	c.(1063-1065)tgG>tgA	p.W355*		NM_019066.4	NP_061939.3			MAGE-like 2									p.W387L(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		TGGGCCCTTCCCAGCCACTCA	0.672000													19	29					0	0	0.006122	0	0
DPYD	1806	broad.mit.edu	37	1	97915726	97915726	+	Silent	SNP	G	G	C			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr1:97915726G>C	ENST00000370192.3	-	14	1894	c.1794C>G	c.(1792-1794)ccC>ccG	p.P598P		NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	598					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	GGCCATACATGGGGCCAGAGG	0.448000													28	52					0	0	0.005443	0	0
ULBP2	80328	broad.mit.edu	37	6	150263229	150263229	+	Silent	SNP	C	C	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr6:150263229C>A	ENST00000367351.3	+	1	94	c.21C>A	c.(19-21)acC>acA	p.T7T		NM_025217.2	NP_079493.1	Q9BZM5	N2DL2_HUMAN	UL16 binding protein 2	7					antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|cell surface|extracellular space|MHC class I protein complex	MHC class I receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		CCGCCGCTACCAAGATCCTTC	0.607000													18	7					1.33834e-09	1.5186e-09	0.007413	1	0
ARHGEF7	8874	broad.mit.edu	37	13	111919973	111919973	+	Silent	SNP	T	T	C			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr13:111919973T>C	ENST00000375741.2	+	10	1342	c.1092T>C	c.(1090-1092)taT>taC	p.Y364Y	ARHGEF7_ENST00000375739.2_Silent_p.Y314Y|ARHGEF7_ENST00000426073.2_Silent_p.Y186Y|ARHGEF7_ENST00000370623.3_Silent_p.Y271Y|ARHGEF7_ENST00000218789.5_Silent_p.Y186Y|ARHGEF7_ENST00000544132.1_Silent_p.L67L|ARHGEF7_ENST00000317133.5_Silent_p.Y343Y|ARHGEF7_ENST00000375737.5_Silent_p.Y261Y|ARHGEF7_ENST00000375736.4_Silent_p.Y186Y|ARHGEF7_ENST00000483189.1_3'UTR|ARHGEF7_ENST00000478679.1_Silent_p.Y108Y|ARHGEF7_ENST00000375723.1_Silent_p.Y186Y	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	364	DH.				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			ACCTCACGTATTGTGCCAATC	0.532000													30	60					0	0	0.006320	0	0
GPC4	2239	broad.mit.edu	37	X	132438794	132438794	+	Silent	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chrX:132438794G>A	ENST00000370828.3	-	7	1775	c.1251C>T	c.(1249-1251)aaC>aaT	p.N417N	GPC4_ENST00000535467.1_Silent_p.N347N	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	417					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					CCTCATTGCCGTTTCCTGCAG	0.468000													74	35					0	0	0.014410	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110461669	110461669	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr8:110461669T>A	ENST00000378402.5	+	40	6232	c.6128T>A	c.(6127-6129)cTt>cAt	p.L2043H		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2043	IPT/TIG 13.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATTGACAGGCTTAGATCTGAT	0.353000										HNSCC(38;0.096)			5	5					0	0	0.001984	0	0
FBXL19	54620	broad.mit.edu	37	16	30958233	30958233	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr16:30958233C>G	ENST00000338343.4	+	10	2197	c.1810C>G	c.(1810-1812)Cca>Gca	p.P604A	FBXL19_ENST00000565690.1_Missense_Mutation_p.P488A|FBXL19_ENST00000471231.2_Missense_Mutation_p.P312A|FBXL19_ENST00000380310.2_Missense_Mutation_p.P624A|FBXL19_ENST00000562319.1_Missense_Mutation_p.P604A			Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	624							DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						CCCCACGTCCCCACTCCGCGA	0.682000													5	14					0	0	0.001168	0	0
WDR66	144406	broad.mit.edu	37	12	122361573	122361573	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr12:122361573G>A	ENST00000288912.4	+	3	1278	c.424G>A	c.(424-426)Gat>Aat	p.D142N	WDR66_ENST00000397454.2_Missense_Mutation_p.D142N	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	142							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		ACAATTGGAGGATGCAGAAAC	0.363000													23	61					0	0	0.003330	0	0
SORL1	6653	broad.mit.edu	37	11	121444948	121444948	+	Splice_Site	SNP	A	A	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr11:121444948A>T	ENST00000260197.7	+	24	3466		c.e24-1		SORL1_ENST00000525532.1_Splice_Site	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing						cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		ATCCCATTTTAGCTACCACCA	0.418000													52	107					0	0	0.014410	0	0
PLEKHH3	79990	broad.mit.edu	37	17	40823110	40823110	+	Silent	SNP	C	C	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr17:40823110C>G	ENST00000293349.6	-	9	1753	c.1323G>C	c.(1321-1323)cgG>cgC	p.R441R	PLEKHH3_ENST00000591022.1_Silent_p.R441R|PLEKHH3_ENST00000412503.1_Silent_p.R441R|PLEKHH3_ENST00000456950.2_5'UTR			Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	441	FERM.				signal transduction	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		CGTTGCGGCTCCGGGCCAAGC	0.667000													33	56					0	0	0.013726	0	0
UBE4A	9354	broad.mit.edu	37	11	118267059	118267059	+	Silent	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr11:118267059C>T	ENST00000252108.3	+	20	3236	c.3105C>T	c.(3103-3105)ccC>ccT	p.P1035P	UBE4A_ENST00000431736.2_Silent_p.P1042P|UBE4A_ENST00000545354.1_Silent_p.P507P	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	1035	U-box.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		ACCGTAGTCCCCTCACCATGG	0.423000													22	41					0	0	0.003330	0	0
GRAP2	9402	broad.mit.edu	37	22	40364132	40364132	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr22:40364132G>T	ENST00000344138.4	+	6	809	c.546G>T	c.(544-546)atG>atT	p.M182I	GRAP2_ENST00000544756.1_Missense_Mutation_p.M110I|GRAP2_ENST00000543252.1_Missense_Mutation_p.M142I|GRAP2_ENST00000540310.1_Missense_Mutation_p.M116I|GRAP2_ENST00000407075.3_Missense_Mutation_p.M182I|GRAP2_ENST00000399090.2_Missense_Mutation_p.M69I	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	182					cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						GACCTTCGATGAACCGGAAGC	0.657000													8	10					0.00448238	0.00473803	0.004482	1	0
KRT78	196374	broad.mit.edu	37	12	53241878	53241878	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr12:53241878C>T	ENST00000359499.4	-	2	93	c.82G>A	c.(82-84)Gtc>Atc	p.V28I	KRT78_ENST00000304620.4_Missense_Mutation_p.V138I			Q8N1N4	K2C78_HUMAN	keratin 78	138	Gly-rich.|Head.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						GTCTCCAGGACCTTGTTCTGC	0.597000													11	32					0	0	0.008291	0	0
OR5D16	390144	broad.mit.edu	37	11	55606573	55606573	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr11:55606573C>G	ENST00000378396.1	+	1	346	c.346C>G	c.(346-348)Cta>Gta	p.L116V		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TGAATTAATTCTATTTGCGGT	0.438000													47	84					0	0	0.011902	0	0
MMP21	118856	broad.mit.edu	37	10	127462419	127462419	+	Silent	SNP	G	G	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr10:127462419G>T	ENST00000368808.3	-	2	677	c.678C>A	c.(676-678)atC>atA	p.I226I		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	226					proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AGCCCAGCTTGATGTCGACCG	0.726000													23	40					1.75199e-13	2.04644e-13	0.007291	1	0
MYO16	23026	broad.mit.edu	37	13	109475526	109475526	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr13:109475526T>A	ENST00000356711.2	+	9	1057	c.931T>A	c.(931-933)Tgg>Agg	p.W311R	MYO16_ENST00000357550.2_Missense_Mutation_p.W311R|MYO16_ENST00000251041.5_Missense_Mutation_p.W311R	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	311					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CGAAATTGCCTGGGAAGAAAA	0.393000													48	141					0	0	0.014410	0	0
NR2F1	7025	broad.mit.edu	37	5	92923999	92923999	+	Silent	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr5:92923999C>T	ENST00000327111.3	+	2	2527	c.840C>T	c.(838-840)gcC>gcT	p.A280A		NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	280					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		TGGCCGCCGCCGGCCTGCATG	0.667000													25	23					0	0	0.004656	0	0
HIST1H3H	8357	broad.mit.edu	37	6	27778004	27778004	+	Silent	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr6:27778004G>A	ENST00000369163.2	+	1	163	c.153G>A	c.(151-153)gaG>gaA	p.E51E		NM_003536.2	NP_003527.1	P68431	H31_HUMAN	histone cluster 1, H3h	51					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)|upper_aerodigestive_tract(3)	10						CTCTCCGCGAGATTCGCCGCT	0.627000													29	53					0	0	0.006320	0	0
DOCK9	23348	broad.mit.edu	37	13	99566619	99566619	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr13:99566619C>T	ENST00000376460.1	-	9	1003	c.923G>A	c.(922-924)gGt>gAt	p.G308D	DOCK9_ENST00000448493.2_Missense_Mutation_p.G320D|DOCK9_ENST00000339416.2_Missense_Mutation_p.G309D|DOCK9_ENST00000442173.1_Missense_Mutation_p.G308D	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	309					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TAAACCGGAACCAGAACCTTC	0.393000													5	13					0	0	0.000602	0	0
PRDM14	63978	broad.mit.edu	37	8	70978695	70978695	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr8:70978695C>T	ENST00000276594.2	-	5	1159	c.958G>A	c.(958-960)Ggt>Agt	p.G320S		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	320	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			TTCCCCGTACCTCCTTTTCCA	0.408000													36	50					0	0	0.006230	0	0
C1orf168	199920	broad.mit.edu	37	1	57257988	57257988	+	Silent	SNP	G	G	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr1:57257988G>T	ENST00000343433.6	-	2	578	c.498C>A	c.(496-498)gcC>gcA	p.A166A	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	166										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						CCAGATGGATGGCCTTACTTC	0.483000													37	62					1.836e-18	2.2485e-18	0.003755	1	0
OTOF	9381	broad.mit.edu	37	2	26702480	26702480	+	Silent	SNP	G	G	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr2:26702480G>T	ENST00000272371.2	-	17	2080	c.1954C>A	c.(1954-1956)Cgg>Agg	p.R652R	OTOF_ENST00000403946.3_Silent_p.R652R	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	652					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCGAGGCCGCTGGGGCCGG	0.642000													22	38					2.44723e-14	2.90739e-14	0.004656	1	0
SMG7	9887	broad.mit.edu	37	1	183518407	183518407	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr1:183518407G>T	ENST00000367537.3	+	20	3101	c.2906G>T	c.(2905-2907)gGa>gTa	p.G969V	SMG7_ENST00000347615.2_Missense_Mutation_p.G936V|SMG7_ENST00000508461.1_Missense_Mutation_p.G944V|SMG7_ENST00000507469.1_Missense_Mutation_p.G940V|SMG7_ENST00000456731.2_Missense_Mutation_p.G848V|SMG7_ENST00000515829.2_Missense_Mutation_p.G890V			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	936	Ser-rich.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						TCCCTCACCGGATTCTCTCTC	0.403000													18	26					0.000132079	0.000140682	0.008871	1	0
FAM91A3P	729182	broad.mit.edu	37	1	149261363	149261363	+	RNA	DEL	G	G	-			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr1:149261363delG	ENST00000325963.8	+	0	910																											tgttcagagtggcagaggaga	0.428													6	5	---	---	---	---					
TOP2B	7155	broad.mit.edu	37	3	25665146	25665146	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr3:25665146delT	ENST00000435706.2	-	21	2773	c.2572delA	c.(2572-2574)ttfs	p.I858fs	TOP2B_ENST00000264331.4_Frame_Shift_Del_p.I863fs			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	863					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						ATTATAGGAATATACCACTCA	0.398													12	18	---	---	---	---					
RP11-473J6.1	0	broad.mit.edu	37	8	35764089	35764089	+	RNA	DEL	C	C	-			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr8:35764089delC	ENST00000523748.1	+	0	366																											gctcctgccgcccccactcct	0.557													2	4	---	---	---	---					
DENND1A	57706	broad.mit.edu	37	9	126144077	126144077	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr9:126144077delG	ENST00000373624.2	-	22	2865	c.2664delC	c.(2662-2664)tcfs	p.S888fs	DENND1A_ENST00000542603.1_Frame_Shift_Del_p.S673fs|DENND1A_ENST00000394219.3_Frame_Shift_Del_p.S899fs|DENND1A_ENST00000473039.1_5'UTR	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	888	Pro-rich.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						TGGAGAGGGCGGAGAGGTTGG	0.682													2	4	---	---	---	---					
RP11-597A11.1	0	broad.mit.edu	37	14	20086381	20086382	+	RNA	INS	-	-	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr14:20086381_20086382insT	ENST00000548261.1	+	0	135																											GTCTTACAAGGTAAAAAAAATG	0.312													4	7	---	---	---	---					
NIPA2	81614	broad.mit.edu	37	15	23006728	23006729	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr15:23006728_23006729insG	ENST00000337451.3	-	8	1187_1188	c.575_576insC	c.(574-576)tgtfs	p.C192fs	NIPA2_ENST00000359727.4_Frame_Shift_Ins_p.C173fs|NIPA2_ENST00000398014.2_Frame_Shift_Ins_p.C192fs|NIPA2_ENST00000398013.3_Frame_Shift_Ins_p.C192fs|NIPA2_ENST00000539711.2_Frame_Shift_Ins_p.C173fs	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 2	192						early endosome|integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		CACAGGAGACTGAAAACGCGCC	0.520													27	63	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7579356	7579359	+	Frame_Shift_Del	DEL	GACG	GACG	-	rs11540654		TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr17:7579356_7579359delGACG	ENST00000420246.2	-	4	460_463	c.328_331delCGTC	c.(328-333)tgfs	p.RL110fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.RL110fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.RL110fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.RL110fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.RL110fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.RL110fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	110	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in a sporadic cancer; somatic mutation).|R -> H (in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation; dbSNP:rs11540654).|R -> S (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|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R110L(36)|p.R110fs*13(11)|p.R110P(9)|p.0?(8)|p.R110C(7)|p.G59fs*23(3)|p.R110H(2)|p.F109_R110delFR(2)|p.Y107fs*38(1)|p.R110fs*18(1)|p.R110fs*39(1)|p.L111fs*10(1)|p.V73fs*9(1)|p.Y107fs*44(1)|p.L111M(1)|p.S33fs*23(1)|p.R110S(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.Y103_L111>L(1)|p.F109_R110insXX(1)|p.G105_T125del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AAGAAGCCCAGACGGAAACCGTAG	0.613		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			47	34	---	---	---	---					
LIMD2	80774	broad.mit.edu	37	17	61776623	61776623	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr17:61776623delG	ENST00000259006.3	-	2	194	c.36delC	c.(34-36)ccfs	p.P12fs	LIMD2_ENST00000578993.1_Frame_Shift_Del_p.P12fs|LIMD2_ENST00000578402.1_Frame_Shift_Del_p.P12fs|LIMD2_ENST00000578061.1_Frame_Shift_Del_p.P12fs|LIMD2_ENST00000583211.1_5'UTR	NM_030576.3	NP_085053.1	Q9BT23	LIMD2_HUMAN	LIM domain containing 2	12							zinc ion binding			kidney(1)|lung(2)	3						TTACATGAGAGGGGGTGGCCT	0.682													12	29	---	---	---	---					
LENG9	94059	broad.mit.edu	37	19	54973750	54973750	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr19:54973750delT	ENST00000333834.4	-	1	1144	c.1026delA	c.(1024-1026)gafs	p.E342fs		NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	342					RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		GGACCAGGTATTCCTGGGCCT	0.632													40	60	---	---	---	---					
SYCP2	10388	broad.mit.edu	37	20	58444989	58444990	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr20:58444989_58444990insT	ENST00000357552.3	-	36	3829_3830	c.3604_3605insA	c.(3604-3606)aagfs	p.K1202fs	SYCP2_ENST00000371001.2_Frame_Shift_Ins_p.K1202fs			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1202					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			CAGAGAACTTATTTTTTTTCTA	0.312													8	37	---	---	---	---					
FAM91A3P	729182	broad.mit.edu	37	1	149261363	149261363	+	RNA	DEL	G	G	-			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr1:149261363delG	ENST00000325963.8	+	0	910																											tgttcagagtggcagaggaga	0.428													6	5	---	---	---	---					
TOP2B	7155	broad.mit.edu	37	3	25665146	25665146	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr3:25665146delT	ENST00000435706.2	-	21	2773	c.2572delA	c.(2572-2574)ttfs	p.I858fs	TOP2B_ENST00000264331.4_Frame_Shift_Del_p.I863fs			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	863					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						ATTATAGGAATATACCACTCA	0.398													12	18	---	---	---	---					
RP11-473J6.1	0	broad.mit.edu	37	8	35764089	35764089	+	RNA	DEL	C	C	-			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr8:35764089delC	ENST00000523748.1	+	0	366																											gctcctgccgcccccactcct	0.557													2	4	---	---	---	---					
TSC22D1	8848	broad.mit.edu	37	13	45148691	45148693	+	In_Frame_Del	DEL	TGT	TGT	-	rs148625973		TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr13:45148691_45148693delTGT	ENST00000458659.2	-	1	2008_2010	c.1518_1520delACA	c.(1516-1521)cag>ca	p.QQ508del	TSC22D1_ENST00000501704.2_In_Frame_Del_p.QQ508del	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	508	Gln-rich.				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		TGgttgttgctgttgttgttgtt	0.502													8	154	---	---	---	---					
NIPA2	81614	broad.mit.edu	37	15	23006728	23006729	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr15:23006728_23006729insG	ENST00000337451.3	-	8	1187_1188	c.575_576insC	c.(574-576)tgtfs	p.C192fs	NIPA2_ENST00000539711.2_Frame_Shift_Ins_p.C173fs|NIPA2_ENST00000359727.4_Frame_Shift_Ins_p.C173fs|NIPA2_ENST00000398014.2_Frame_Shift_Ins_p.C192fs|NIPA2_ENST00000398013.3_Frame_Shift_Ins_p.C192fs	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 2	192						early endosome|integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		CACAGGAGACTGAAAACGCGCC	0.520													27	63	---	---	---	---					
MFGE8	4240	broad.mit.edu	37	15	89453067	89453074	+	Frame_Shift_Del	DEL	GTGTACGA	GTGTACGA	-	rs145851768		TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr15:89453067_89453074delGTGTACGA	ENST00000539437.1	-	3	266_273	c.130_137delTCGTACAC	c.(130-138)cfs	p.SYT44fs	MFGE8_ENST00000566497.1_Frame_Shift_Del_p.SYT52fs|MFGE8_ENST00000268150.8_Frame_Shift_Del_p.SYT52fs|MFGE8_ENST00000268151.7_Frame_Shift_Del_p.SYT52fs|MFGE8_ENST00000542878.1_Intron|MFGE8_ENST00000559997.1_Intron			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	52	EGF-like.				angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization					breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					GCACGTGCAGGTGTACGAGGGGAAGACA	0.543													26	85	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7579356	7579359	+	Frame_Shift_Del	DEL	GACG	GACG	-	rs11540654		TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr17:7579356_7579359delGACG	ENST00000420246.2	-	4	460_463	c.328_331delCGTC	c.(328-333)tgfs	p.RL110fs	TP53_ENST00000413465.2_Frame_Shift_Del_p.RL110fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.RL110fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.RL110fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.RL110fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.RL110fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	110	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in a sporadic cancer; somatic mutation).|R -> H (in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation; dbSNP:rs11540654).|R -> S (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|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R110L(36)|p.R110fs*13(11)|p.R110P(9)|p.0?(8)|p.R110C(7)|p.G59fs*23(3)|p.R110H(2)|p.F109_R110delFR(2)|p.Y107fs*38(1)|p.R110fs*18(1)|p.R110fs*39(1)|p.L111fs*10(1)|p.V73fs*9(1)|p.Y107fs*44(1)|p.L111M(1)|p.S33fs*23(1)|p.R110S(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.Y103_L111>L(1)|p.F109_R110insXX(1)|p.G105_T125del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AAGAAGCCCAGACGGAAACCGTAG	0.613		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			47	34	---	---	---	---					
LIMD2	80774	broad.mit.edu	37	17	61776623	61776623	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr17:61776623delG	ENST00000259006.3	-	2	194	c.36delC	c.(34-36)ccfs	p.P12fs	LIMD2_ENST00000578402.1_Frame_Shift_Del_p.P12fs|LIMD2_ENST00000578061.1_Frame_Shift_Del_p.P12fs|LIMD2_ENST00000583211.1_5'UTR|LIMD2_ENST00000578993.1_Frame_Shift_Del_p.P12fs	NM_030576.3	NP_085053.1	Q9BT23	LIMD2_HUMAN	LIM domain containing 2	12							zinc ion binding			kidney(1)|lung(2)	3						TTACATGAGAGGGGGTGGCCT	0.682													12	29	---	---	---	---					
LENG9	94059	broad.mit.edu	37	19	54973750	54973750	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr19:54973750delT	ENST00000333834.4	-	1	1144	c.1026delA	c.(1024-1026)gafs	p.E342fs		NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	342					RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		GGACCAGGTATTCCTGGGCCT	0.632													40	60	---	---	---	---					
SYCP2	10388	broad.mit.edu	37	20	58444989	58444990	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccee056-124e-40d5-a07d-c208765d8640	e0a52d9d-41f2-46d3-8c62-df1241806397	g.chr20:58444989_58444990insT	ENST00000357552.3	-	36	3829_3830	c.3604_3605insA	c.(3604-3606)aagfs	p.K1202fs	SYCP2_ENST00000371001.2_Frame_Shift_Ins_p.K1202fs			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1202					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			CAGAGAACTTATTTTTTTTCTA	0.312													8	37	---	---	---	---					
