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
ZNF750	79755	broad.mit.edu	37	17	80790248	80790248	+	Missense_Mutation	SNP	A	A	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:80790248A>T	ENST00000269394.3	-	2	916	c.83T>A	c.(82-84)tTc>tAc	p.F28Y	TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron|ZNF750_ENST00000572562.1_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	28						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GGGACATTGGAAACATTTATA	0.408000													47	45					0	0	1	0	0
NOX5	79400	broad.mit.edu	37	15	69348931	69348931	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:69348931G>A	ENST00000260364.5	+	17	2440	c.2139G>A	c.(2137-2139)aaG>aaA	p.K713K	NOX5_ENST00000530406.2_Silent_p.K703K|NOX5_ENST00000448182.3_Silent_p.K685K|NOX5_ENST00000388866.3_Silent_p.K731K|NOX5_ENST00000455873.3_Silent_p.K696K			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	731					angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CTGCTGAGAAGAAGGGCAAGG	0.532000													25	78					0	0	1	0	0
IDE	3416	broad.mit.edu	37	10	94291595	94291595	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:94291595C>T	ENST00000265986.6	-	4	627	c.571G>A	c.(571-573)Gag>Aag	p.E191K		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	191					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACATTCTTCTCATGTTCTGAA	0.408000													17	51					0	0	1	0	0
DDX59	83479	broad.mit.edu	37	1	200635852	200635852	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:200635852G>A	ENST00000447706.2	-	2	168	c.17C>T	c.(16-18)tCt>tTt	p.S6F	DDX59_ENST00000331314.6_Missense_Mutation_p.S6F|DDX59_ENST00000367348.3_Missense_Mutation_p.S6F			Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	6						intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						GATTTTTAGAGATCTTGGAAC	0.313000													39	126					0	0	1	0	0
RFX7	64864	broad.mit.edu	37	15	56387309	56387309	+	Nonsense_Mutation	SNP	C	C	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:56387309C>A	ENST00000423270.1	-	9	2616	c.2617G>T	c.(2617-2619)Gaa>Taa	p.E873*	RFX7_ENST00000422057.1_Nonsense_Mutation_p.E776*|RFX7_ENST00000559447.2_Nonsense_Mutation_p.E776*|RFX7_ENST00000317318.6_Nonsense_Mutation_p.E873*	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	776					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						AAGTAGCTTTCATTTGTCTGG	0.373000													16	49					1.52009e-12	1.60983e-12	1	1	0
NSFL1C	55968	broad.mit.edu	37	20	1438876	1438876	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:1438876C>G	ENST00000216879.4	-	3	1114	c.247G>C	c.(247-249)Gat>Cat	p.D83H	NSFL1C_ENST00000476071.1_Missense_Mutation_p.D83H|NSFL1C_ENST00000350991.4_Missense_Mutation_p.D83H|RP4-776F14.3_ENST00000553571.1_RNA|NSFL1C_ENST00000353088.2_Missense_Mutation_p.D83H|NSFL1C_ENST00000381658.4_Missense_Mutation_p.K3N	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	83						chromosome|Golgi stack|nucleus	lipid binding|protein binding			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						TCATCTTCATCTTGGTCATGA	0.478000													17	101					0	0	1	0	0
LNPEP	4012	broad.mit.edu	37	5	96315345	96315345	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:96315345C>G	ENST00000231368.5	+	2	1215	c.523C>G	c.(523-525)Cta>Gta	p.L175V	LNPEP_ENST00000395770.3_Missense_Mutation_p.L161V	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	175					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		CGTTGTGCCACTACGCTATGA	0.453000													34	108					0	0	1	0	0
ATAD5	79915	broad.mit.edu	37	17	29220658	29220658	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:29220658C>T	ENST00000321990.4	+	21	5165	c.4787C>T	c.(4786-4788)tCa>tTa	p.S1596L		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1596	Poly-Ser.				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TCCTCTGTATCATCTTCCTCA	0.368000													14	61					0	0	1	0	0
OSR1	130497	broad.mit.edu	37	2	19552946	19552946	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:19552946G>A	ENST00000536433.1	-	1	3731	c.621C>T	c.(619-621)atC>atT	p.I207I	OSR1_ENST00000272223.2_Silent_p.I207I			Q8TAX0	OSR1_HUMAN	odd-skipped related transciption factor 1	207					chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				CTTTGTGGCAGATGTCACAGG	0.592000													32	46					0	0	1	0	0
SNX18	112574	broad.mit.edu	37	5	53839208	53839208	+	Missense_Mutation	SNP	C	C	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:53839208C>A	ENST00000381410.4	+	2	2011	c.1821C>A	c.(1819-1821)ttC>ttA	p.F607L	SNX18_ENST00000343017.6_3'UTR	NM_001102575.1	NP_001096045.1	Q96RF0	SNX18_HUMAN	sorting nexin 18	460	BAR.				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				TAATATTTTTCCAAAAAGTTA	0.348000													22	86					6.44725e-10	6.73857e-10	1	1	0
PRB4	5545	broad.mit.edu	37	12	11461589	11461589	+	Missense_Mutation	SNP	A	A	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:11461589A>G	ENST00000279575.1	-	3	361	c.328T>C	c.(328-330)Tcc>Ccc	p.S110P	PRB4_ENST00000535904.1_Missense_Mutation_p.S110P|PRB4_ENST00000445719.2_Missense_Mutation_p.S110P	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	152	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GTACCTTGGGACTGGTTTCCT	0.602000										HNSCC(22;0.051)			6	395					0	0	1	0	0
GPR148	344561	broad.mit.edu	37	2	131487611	131487611	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:131487611C>G	ENST00000309926.4	+	1	969	c.887C>G	c.(886-888)aCt>aGt	p.T296S		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	296						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					GACTCTGGGACTCACACATGG	0.567000													12	47					0	0	1	0	0
WDR70	55100	broad.mit.edu	37	5	37379491	37379491	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:37379491G>A	ENST00000265107.4	+	1	178	c.22G>A	c.(22-24)Gaa>Aaa	p.E8K	WDR70_ENST00000504564.1_Missense_Mutation_p.E8K	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	8										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGGGCCCAGCGAAGGTGGGTT	0.642000													40	129					0	0	1	0	0
ZNF639	51193	broad.mit.edu	37	3	179050801	179050801	+	Nonsense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:179050801C>G	ENST00000326361.3	+	6	639	c.194C>G	c.(193-195)tCa>tGa	p.S65*	ZNF639_ENST00000466663.1_3'UTR|ZNF639_ENST00000496856.1_Nonsense_Mutation_p.S65*|ZNF639_ENST00000484866.1_Nonsense_Mutation_p.S65*	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	zinc finger protein 639	65					initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			accgagacgtcaaatgacttg	0.358000													4	7					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39800377	39800377	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:39800377C>T	ENST00000564288.1	+	37	8894	c.8117C>T	c.(8116-8118)tCa>tTa	p.S2706L	MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.S2743L|MACF1_ENST00000372915.3_Missense_Mutation_p.S2711L|MACF1_ENST00000289893.4_Missense_Mutation_p.S1146L|MACF1_ENST00000545844.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2711					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACATTGGCATCAGCTTTGGAA	0.403000													23	46					0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11288856	11288856	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:11288856G>A	ENST00000361445.4	-	19	2975	c.2899C>T	c.(2899-2901)Cat>Tat	p.H967Y		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	967					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						ATGGTGTGATGATGAGAGAGT	0.532000													24	47					0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69683801	69683801	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:69683801G>A	ENST00000265403.7	+	2	800	c.773G>A	c.(772-774)cGa>cAa	p.R258Q	UGT2B10_ENST00000458688.2_Missense_Mutation_p.R174Q	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	258					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TGGCTTATGCGAAACTCCTGG	0.383000													52	203					0	0	1	0	0
CENPB	1059	broad.mit.edu	37	20	3766589	3766589	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:3766589G>A	ENST00000379751.4	-	1	748	c.542C>T	c.(541-543)tCg>tTg	p.S181L		NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	181					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						CTCGGCCACCGACGGCGGCTG	0.746000													5	36					0	0	1	0	0
GRIP1	23426	broad.mit.edu	37	12	66856789	66856789	+	Missense_Mutation	SNP	C	C	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:66856789C>A	ENST00000359742.4	-	9	1197	c.957G>T	c.(955-957)caG>caT	p.Q319H	GRIP1_ENST00000398016.3_Missense_Mutation_p.Q319H|GRIP1_ENST00000286445.7_Missense_Mutation_p.Q319H			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	319	PDZ 3.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TGGCCAGGAACTGGGTTGCTT	0.552000													6	25					1	1	1	1	0
SART3	9733	broad.mit.edu	37	12	108924012	108924012	+	Missense_Mutation	SNP	T	T	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:108924012T>G	ENST00000228284.3	-	15	2056	c.1822A>C	c.(1822-1824)Aag>Cag	p.K608Q	SART3_ENST00000431469.2_Missense_Mutation_p.K572Q	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	608	Required for nuclear localization.				RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						AACGCTTTCTTCTCAGCCCGA	0.478000									Porokeratosis				31	125					0	0	1	0	0
ILDR1	286676	broad.mit.edu	37	3	121725931	121725931	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:121725931C>T	ENST00000273691.3	-	2	241	c.136G>A	c.(136-138)Gac>Aac	p.D46N	ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000462014.1_Missense_Mutation_p.D58N|ILDR1_ENST00000344209.5_Missense_Mutation_p.D46N|ILDR1_ENST00000393631.1_Missense_Mutation_p.D46N	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	46	Ig-like V-type.					cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		GTGGTGTAGTCACATTTGAGG	0.522000													9	58					0	0	1	0	0
C15orf59	388135	broad.mit.edu	37	15	74032295	74032295	+	Missense_Mutation	SNP	T	T	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:74032295T>G	ENST00000569673.1	-	3	2049	c.845A>C	c.(844-846)tAc>tCc	p.Y282S	C15orf59_ENST00000379822.4_Missense_Mutation_p.Y282S|C15orf59_ENST00000558834.1_5'UTR			Q2T9L4	CO059_HUMAN	chromosome 15 open reading frame 59	282										breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AGTGGCTGTGTAGGGCAGAAC	0.547000													39	146					0	0	1	0	0
POLR2A	5430	broad.mit.edu	37	17	7416662	7416662	+	Silent	SNP	G	G	A	rs137857356	byFrequency	TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:7416662G>A	ENST00000322644.6	+	29	5478	c.5079G>A	c.(5077-5079)tcG>tcA	p.S1693S		NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1693	52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN].				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				ctagctactcgccaacgtctc	0.597000													3	18					0	0	1	0	0
MICU3	286097	broad.mit.edu	37	8	16942798	16942798	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr8:16942798G>A	ENST00000318063.5	+	6	790	c.748G>A	c.(748-750)Gag>Aag	p.E250K		NM_181723.2	NP_859074.1			mitochondrial calcium uptake family, member 3																		TGATGGCAATGAGATGGTGGA	0.328000													22	86					0	0	1	0	0
FKBP9L	360132	broad.mit.edu	37	7	55755684	55755684	+	RNA	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:55755684G>A	ENST00000455909.1	-	0	389					NR_027340.1|NR_027342.1				FK506 binding protein 9-like											endometrium(1)|kidney(1)|lung(3)	5						GTTCCTAtgagaagaacacat	0.403000													17	50					0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85450000	85450000	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:85450000G>A	ENST00000393217.2	+	8	1490	c.1429G>A	c.(1429-1431)Gat>Aat	p.D477N		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	477										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AATTCTGGCAGATTTTAAAAT	0.269000													21	62					0	0	1	0	0
TRIM16	10626	broad.mit.edu	37	17	15554855	15554855	+	Silent	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:15554855G>C	ENST00000455584.2	-	1	112	c.69C>G	c.(67-69)ctC>ctG	p.L23L	TRIM16_ENST00000336708.7_Silent_p.L23L|TRIM16_ENST00000581224.1_Intron|TRIM16_ENST00000416464.2_Intron|TRIM16_ENST00000578237.1_Silent_p.L23L																							AGTCTGGGCTGAGAGGGGCTG	0.632000													23	40					0	0	1	0	0
SNAPC4	6621	broad.mit.edu	37	9	139292804	139292804	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:139292804G>A	ENST00000298532.2	-	1	445	c.77C>T	c.(76-78)tCg>tTg	p.S26L		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	26					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GTGGGAGCCCGAGGAGCCGGG	0.527000													30	83					0	0	1	0	0
NPIPA5	100288332	broad.mit.edu	37	16	15457646	15457646	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:15457646G>C	ENST00000360151.4	-	8	922	c.923C>G	c.(922-924)cCt>cGt	p.P308R		NM_001277325.1	NP_001264254.1			nuclear pore complex interacting protein family, member A5																		ACACTCGGCAGGTGTCTTGAG	0.572000													18	104					0	0	1	0	0
MROH8	140699	broad.mit.edu	37	20	35766276	35766276	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:35766276G>A	ENST00000400441.3	-	13	1585	c.1586C>T	c.(1585-1587)tCc>tTc	p.S529F	MROH8_ENST00000441008.2_Missense_Mutation_p.S515F|MROH8_ENST00000217333.8_Missense_Mutation_p.S358F					maestro heat-like repeat family member 8																		CTTGGGTCTGGATATAAATAA	0.443000													6	27					0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79089016	79089016	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:79089016C>T	ENST00000388820.4	-	4	945	c.735G>A	c.(733-735)gaG>gaA	p.E245E	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	245	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CTACCAGGGTCTCCACCCACT	0.607000													36	110					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11098863	11098863	+	RNA	SNP	A	A	G	rs75318310	by1000genomes	TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr21:11098863A>G	ENST00000470054.1	-	0	62									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)		ccagcctccaactcccccttc	0.627000													6	16					0	0	1	0	0
MED29	55588	broad.mit.edu	37	19	39882005	39882005	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:39882005G>A	ENST00000315588.5	+	1	55	c.6G>A	c.(4-6)ctG>ctA	p.L2L		NM_017592.1	NP_060062.1	Q9NX70	MED29_HUMAN	mediator complex subunit 29	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	protein binding			lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TAGGGATGCTGAAAAGCAACG	0.572000													8	15					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56325006	56325006	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:56325006G>A	ENST00000370754.5	-	101	22912	c.22913C>T	c.(22912-22914)tCa>tTa	p.S7638L	DST_ENST00000421834.2_Missense_Mutation_p.S5345L|DST_ENST00000446842.2_Missense_Mutation_p.S7134L|DST_ENST00000244364.6_Missense_Mutation_p.S5059L|DST_ENST00000370788.2_Missense_Mutation_p.S5263L|DST_ENST00000361203.3_Missense_Mutation_p.S7349L|DST_ENST00000370769.4_Missense_Mutation_p.S7460L|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	7458					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GCCTTTCCCTGATAAATATCC	0.453000													6	58					0	0	1	0	0
SCO1	6341	broad.mit.edu	37	17	10590123	10590123	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:10590123C>G	ENST00000255390.5	-	5	752	c.692G>C	c.(691-693)aGa>aCa	p.R231T	SCO1_ENST00000577427.1_Missense_Mutation_p.R200T	NM_004589.2	NP_004580.1	O75880	SCO1_HUMAN	SCO1 cytochrome c oxidase assembly protein	231					cellular copper ion homeostasis|copper ion transport|generation of precursor metabolites and energy|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	10						GACCTCTTCTCTCGTGCCAGT	0.423000													33	87					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40828010	40828010	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:40828010C>G	ENST00000373198.3	-	17	2662	c.2427G>C	c.(2425-2427)caG>caC	p.Q809H	PTPRT_ENST00000373193.3_Missense_Mutation_p.Q790H|PTPRT_ENST00000373187.1_Missense_Mutation_p.Q787H|PTPRT_ENST00000373201.1_Missense_Mutation_p.Q777H|PTPRT_ENST00000356100.2_Missense_Mutation_p.Q796H|PTPRT_ENST00000373184.1_Missense_Mutation_p.Q777H|PTPRT_ENST00000373190.1_Missense_Mutation_p.Q787H	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	787					homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGGTCTCCTTCTGCTTCTTGG	0.552000													45	135					0	0	1	0	0
LZIC	84328	broad.mit.edu	37	1	9992908	9992908	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:9992908G>C	ENST00000377223.1	-	6	632	c.385C>G	c.(385-387)Caa>Gaa	p.Q129E	LZIC_ENST00000400903.2_Missense_Mutation_p.Q129E|LZIC_ENST00000541052.1_Missense_Mutation_p.Q150E|LZIC_ENST00000377213.1_Missense_Mutation_p.Q129E			Q8WZA0	LZIC_HUMAN	leucine zipper and CTNNBIP1 domain containing	129							beta-catenin binding			breast(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.29e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;0.000242)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.00842)|READ - Rectum adenocarcinoma(331;0.0419)		ACTTTCTGTTGAGTGTACAGG	0.343000													24	64					0	0	1	0	0
MYO5A	4644	broad.mit.edu	37	15	52725455	52725455	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:52725455C>G	ENST00000399231.3	-	2	298	c.55G>C	c.(55-57)Gag>Cag	p.E19Q	MYO5A_ENST00000358212.6_Missense_Mutation_p.E19Q|MYO5A_ENST00000399233.2_Missense_Mutation_p.E19Q|MYO5A_ENST00000553916.1_Missense_Mutation_p.E19Q|MYO5A_ENST00000356338.6_Missense_Mutation_p.E19Q	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	19	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CAGACTTCCTCTGGATCAGGT	0.373000													40	102					0	0	1	0	0
HIST2H2BB	338391	broad.mit.edu	37	1	149378170	149378170	+	RNA	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:149378170G>A	ENST00000415338.1	-	0	1061																											GATCTGGACCGTCCCCTGTCC	0.547000													10	30					0	0	1	0	0
TRPC1	7220	broad.mit.edu	37	3	142499837	142499837	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:142499837G>A	ENST00000273482.6	+	5	1215	c.824G>A	c.(823-825)cGt>cAt	p.R275H	TRPC1_ENST00000476941.1_Missense_Mutation_p.R309H	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	309					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity	p.R275H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						AATTTAAGTCGTCTAAAACTT	0.368000													30	94					0	0	1	0	0
KRT5	3852	broad.mit.edu	37	12	52912867	52912867	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:52912867C>T	ENST00000252242.4	-	2	1023	c.633G>A	c.(631-633)gtG>gtA	p.V211V		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	211	Linker 1.|Rod.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGTTCTGCCTCACAGTCTTGG	0.607000													37	101					0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169446073	169446073	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:169446073G>C	ENST00000256935.8	+	33	3422	c.3342G>C	c.(3340-3342)atG>atC	p.M1114I	DOCK2_ENST00000540750.1_Missense_Mutation_p.M175I|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.M606I	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1114	Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTTCGACATGATGCTGTGTG	0.458000													66	225					0	0	1	0	0
CRHBP	1393	broad.mit.edu	37	5	76264639	76264639	+	Nonsense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:76264639C>T	ENST00000274368.4	+	7	1320	c.898C>T	c.(898-900)Cag>Tag	p.Q300*	CRHBP_ENST00000514258.1_Intron	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	300					female pregnancy|learning or memory|signal transduction	soluble fraction				kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		TGAGTATCGTCAGCTGGAGCC	0.458000													20	75					0	0	1	0	0
KLF3	51274	broad.mit.edu	37	4	38690408	38690408	+	Nonsense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:38690408C>G	ENST00000261438.5	+	3	565	c.260C>G	c.(259-261)tCa>tGa	p.S87*	KLF3_ENST00000514033.1_Nonsense_Mutation_p.S87*	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	87	Pro-rich.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						TTCCCGTCCTCACACCGGAGA	0.602000													16	53					0	0	1	0	0
PRR25	388199	broad.mit.edu	37	16	855560	855560	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:855560C>G	ENST00000301698.1	+	1	118	c.118C>G	c.(118-120)Cga>Gga	p.R40G		NM_001013638.1	NP_001013660.1	Q96S07	PRR25_HUMAN	proline rich 25	40										large_intestine(1)|lung(1)|skin(1)	3						TCACAGGCCTCGAACGTGCAT	0.667000													5	25					0	0	1	0	0
VCX3B	425054	broad.mit.edu	37	X	8433467	8433467	+	Translation_Start_Site	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:8433467G>A	ENST00000381032.1	+	0	283				VCX3B_ENST00000381029.4_5'UTR|VCX3B_ENST00000453306.1_De_novo_Start_InFrame|VCX3B_ENST00000444481.1_De_novo_Start_InFrame|VCX3B_ENST00000440654.2_De_novo_Start_InFrame	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN	variable charge, X-linked 3B							nucleolus				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						TTAGTCGACCGTTGCGAGACG	0.597000													3	15					0	0	1	0	0
SLC9A5	6553	broad.mit.edu	37	16	67291449	67291449	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:67291449C>G	ENST00000299798.11	+	9	1506	c.1441C>G	c.(1441-1443)Ctg>Gtg	p.L481V		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	481					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		TGACCACATTCTGGCTGCAGT	0.617000													20	43					0	0	1	0	0
FARP2	9855	broad.mit.edu	37	2	242433534	242433534	+	Missense_Mutation	SNP	G	G	C	rs145352184		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:242433534G>C	ENST00000264042.3	+	27	3329	c.3159G>C	c.(3157-3159)gaG>gaC	p.E1053D	STK25_ENST00000316586.4_3'UTR	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	1053					axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		GGGGGAAGGAGGAATGACGCT	0.612000													10	55					0	0	1	0	0
MROH8	140699	broad.mit.edu	37	20	35743606	35743606	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:35743606C>G	ENST00000400441.3	-	19	2504	c.2505G>C	c.(2503-2505)atG>atC	p.M835I	MROH8_ENST00000441008.2_Missense_Mutation_p.M821I|MROH8_ENST00000217333.8_Missense_Mutation_p.M664I					maestro heat-like repeat family member 8									p.M835I(1)									GGGTCCTCATCATGGCAGCCA	0.463000													29	109					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3789610	3789610	+	Missense_Mutation	SNP	A	A	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:3789610A>G	ENST00000262367.5	-	25	5058	c.4249T>C	c.(4249-4251)Tac>Cac	p.Y1417H	CREBBP_ENST00000382070.3_Missense_Mutation_p.Y1379H	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1417	Cys/His-rich.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TCAGAGCCGTATTCTTGGACG	0.488000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						27	41					0	0	1	0	0
S1PR4	8698	broad.mit.edu	37	19	3179392	3179392	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:3179392C>G	ENST00000246115.3	+	1	657	c.602C>G	c.(601-603)tCc>tGc	p.S201C	S1PR4_ENST00000591346.1_3'UTR	NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	201					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						CCCCTCTACTCCAAGCGCTAC	0.657000													44	270					0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62740699	62740699	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:62740699G>A	ENST00000371153.4	-	3	455	c.77C>T	c.(76-78)tCt>tTt	p.S26F	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	26										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GGTCTCCACAGAATAAGGGTG	0.438000													23	81					0	0	1	0	0
SULF1	23213	broad.mit.edu	37	8	70551084	70551084	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr8:70551084C>T	ENST00000260128.4	+	21	3259	c.2542C>T	c.(2542-2544)Ctt>Ttt	p.L848F	SULF1_ENST00000402687.4_Missense_Mutation_p.L848F|SULF1_ENST00000419716.3_Missense_Mutation_p.L848F|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000458141.2_Missense_Mutation_p.L848F	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	848					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			ACCTAAGAATCTTGATGTTGG	0.378000													22	73					0	0	1	0	0
PRAM1	84106	broad.mit.edu	37	19	8564664	8564664	+	Splice_Site	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:8564664C>G	ENST00000423345.4	-	2	548	c.27_splice	c.e2-1	p.E10_splice	PRAM1_ENST00000255612.3_Splice_Site_p.E10_splice			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	10							lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						TGATGGCTCTCCTAGGAGACG	0.597000													4	17					0	0	1	0	0
ZNF445	353274	broad.mit.edu	37	3	44489429	44489429	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:44489429G>A	ENST00000425708.2	-	7	2075	c.1734C>T	c.(1732-1734)ctC>ctT	p.L578L	ZNF445_ENST00000396077.2_Silent_p.L578L			P59923	ZN445_HUMAN	zinc finger protein 445	578					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		AGCTGTAGGTGAGAGCTGCCC	0.468000													23	59					0	0	1	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150529266	150529266	+	Silent	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:150529266C>G	ENST00000271643.4	+	10	1982	c.1746C>G	c.(1744-1746)gtC>gtG	p.V582V	RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369038.2_Silent_p.V582V|ADAMTSL4_ENST00000369039.5_Silent_p.V605V|ADAMTSL4_ENST00000369041.5_Silent_p.V582V	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	582					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	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;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CTGTGGATGTCTATGTGAGCC	0.637000													37	129					0	0	1	0	0
BECN1	8678	broad.mit.edu	37	17	40970304	40970304	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:40970304C>G	ENST00000361523.4	-	7	750	c.618G>C	c.(616-618)aaG>aaC	p.K206N	BECN1_ENST00000590099.1_Missense_Mutation_p.K206N|BECN1_ENST00000438274.3_Missense_Mutation_p.K130N	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN	beclin 1, autophagy related	206					anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		CTGCCACTATCTTGCGGTTCT	0.517000													44	119					0	0	1	0	0
STX1A	6804	broad.mit.edu	37	7	73118703	73118703	+	Missense_Mutation	SNP	C	C	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:73118703C>A	ENST00000222812.3	-	5	360	c.334G>T	c.(334-336)Gac>Tac	p.D112Y	WBSCR22_ENST00000423166.2_3'UTR|STX1A_ENST00000395154.3_Missense_Mutation_p.D112Y|STX1A_ENST00000395155.3_Missense_Mutation_p.D112Y|STX1A_ENST00000395156.3_Missense_Mutation_p.D112Y	NM_004603.3	NP_004594.1	Q16623	STX1A_HUMAN	syntaxin 1A (brain)	112					energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion	cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome	SNAP receptor activity			large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(55;0.0908)|all_lung(88;0.198)				ATCCTCAGGTCAGCGGAGGAG	0.652000													10	54					1.58986e-06	1.63449e-06	1	1	0
UBE3A	7337	broad.mit.edu	37	15	25615787	25615787	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:25615787G>C	ENST00000232165.3	-	6	2190	c.1534C>G	c.(1534-1536)Caa>Gaa	p.Q512E	UBE3A_ENST00000397954.2_Missense_Mutation_p.Q515E|UBE3A_ENST00000566215.1_Missense_Mutation_p.Q492E|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000438097.1_Missense_Mutation_p.Q492E|UBE3A_ENST00000428984.2_Missense_Mutation_p.Q492E	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	515	Interaction with HCV core protein.				brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		TGCTGTCCTTGAACTAAGCTG	0.373000													47	123					0	0	1	0	0
ZNF202	7753	broad.mit.edu	37	11	123601509	123601509	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:123601509G>A	ENST00000336139.4	-	3	450	c.88C>T	c.(88-90)Cgg>Tgg	p.R30W	ZNF202_ENST00000529691.1_Missense_Mutation_p.R30W|ZNF202_ENST00000530393.1_Missense_Mutation_p.R30W			O95125	ZN202_HUMAN	zinc finger protein 202	30					lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		GACTCTGGCCGACAGGTGAAA	0.542000													23	60					0	0	1	0	0
MAP10	54627	broad.mit.edu	37	1	232943324	232943324	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:232943324C>G	ENST00000418460.1	+	1	2682	c.2555C>G	c.(2554-2556)tCt>tGt	p.S852C		NM_019090.2	NP_061963.2			microtubule-associated protein 10																		CCTTGCTATTCTGAAGATTTC	0.373000													10	25					0	0	1	0	0
BRINP2	57795	broad.mit.edu	37	1	177249839	177249839	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:177249839G>A	ENST00000361539.4	+	8	1839	c.1527G>A	c.(1525-1527)ttG>ttA	p.L509L	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		509						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						AGACAGACTTGCAGGACCTGG	0.592000													17	36					0	0	1	0	0
SIRPB1	10326	broad.mit.edu	37	20	1592215	1592215	+	Missense_Mutation	SNP	C	C	G	rs41289057	by1000genomes	TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:1592215C>G	ENST00000279477.7	-	2	285	c.221G>C	c.(220-222)gGc>gCc	p.G74A	SIRPB1_ENST00000381596.1_5'UTR|SIRPB1_ENST00000568365.1_Missense_Mutation_p.G74A|SIRPB1_ENST00000381603.3_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381605.4_Intron	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	74	Ig-like V-type.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						TAATTCCCGGCCTGGTCCAGC	0.522000													13	124					0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105927438	105927438	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:105927438C>G	ENST00000357060.3	-	22	2864	c.2749G>C	c.(2749-2751)Gag>Cag	p.E917Q	WDR96_ENST00000278064.2_Missense_Mutation_p.E848Q|WDR96_ENST00000428666.1_Missense_Mutation_p.E918Q	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	917										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TCTTTCAGCTCTTCAACCGTG	0.358000													27	72					0	0	1	0	0
HDGF	3068	broad.mit.edu	37	1	156721214	156721214	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:156721214C>T	ENST00000357325.5	-	1	322	c.8G>A	c.(7-9)cGa>cAa	p.R3Q	HDGF_ENST00000465180.1_Intron|HDGF_ENST00000368206.5_Intron|HDGF_ENST00000368209.5_Intron|PRCC_ENST00000491853.1_Intron|HDGF_ENST00000537739.1_Missense_Mutation_p.R3Q	NM_004494.2	NP_004485.1	P51858	HDGF_HUMAN	hepatoma-derived growth factor	3					cell proliferation|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	DNA binding|growth factor activity|heparin binding|nucleotide binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)		Colorectal(1306;0.018)		CCGGTTGGATCGCGACATggc	0.751000													4	16					0	0	1	0	0
UGT1A5	54579	broad.mit.edu	37	2	234621862	234621862	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:234621862C>T	ENST00000373414.3	+	1	225	c.225C>T	c.(223-225)ttC>ttT	p.F75F	UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A10_ENST00000373445.1_Intron	NM_019078.1	NP_061951.1														cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		AGAACTTTTTCACCCTGACAA	0.502000													35	135					0	0	1	0	0
TESK2	10420	broad.mit.edu	37	1	45851629	45851629	+	Missense_Mutation	SNP	G	G	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:45851629G>T	ENST00000372086.3	-	4	748	c.348C>A	c.(346-348)ttC>ttA	p.F116L	TESK2_ENST00000372084.1_Missense_Mutation_p.F116L|TESK2_ENST00000341771.6_Missense_Mutation_p.F116L|TESK2_ENST00000538496.1_Missense_Mutation_p.F33L|TESK2_ENST00000486676.1_Intron	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	116	Protein kinase.				actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					ATACACCCATGAACCTAAAGA	0.338000													17	64					1.62849e-17	1.7393e-17	1	1	0
CERS3	204219	broad.mit.edu	37	15	100943013	100943013	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:100943013C>T	ENST00000284382.4	-	13	1480	c.1057G>A	c.(1057-1059)Gaa>Aaa	p.E353K	CERS3_ENST00000394113.1_Missense_Mutation_p.E353K|RP11-168G16.2_ENST00000560643.1_RNA|RP11-168G16.2_ENST00000560718.1_RNA|CERS3_ENST00000538112.2_Missense_Mutation_p.E353K|CERS3_ENST00000560944.1_5'UTR	NM_178842.3	NP_849164.2	Q8IU89	CERS3_HUMAN	ceramide synthase 3	353	Poly-Glu.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										Gcctcttcttcttcctcttcc	0.488000													11	34					0	0	1	0	0
EMILIN1	11117	broad.mit.edu	37	2	27306410	27306410	+	Silent	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:27306410C>G	ENST00000380320.4	+	4	2470	c.1971C>G	c.(1969-1971)ctC>ctG	p.L657L		NM_007046.3	NP_008977.1	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	657					cell adhesion	collagen				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCAGCTCCCTCAATGACTCAC	0.587000													15	56					0	0	1	0	0
WIPI1	55062	broad.mit.edu	37	17	66429704	66429704	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:66429704G>A	ENST00000262139.5	-	8	704	c.705C>T	c.(703-705)atC>atT	p.I235I	WIPI1_ENST00000546360.1_Silent_p.I153I|WIPI1_ENST00000589459.1_5'UTR	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	235					macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						CTAGAGAGCTGATTGTCACAT	0.453000													11	48					0	0	1	0	0
NR4A2	4929	broad.mit.edu	37	2	157182274	157182274	+	Silent	SNP	C	C	T	rs141522485		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:157182274C>T	ENST00000339562.4	-	8	2141	c.1779G>A	c.(1777-1779)ctG>ctA	p.L593L	NR4A2_ENST00000409572.1_Silent_p.L593L|NR4A2_ENST00000409108.2_3'UTR|NR4A2_ENST00000429376.1_3'UTR|NR4A2_ENST00000539077.1_Silent_p.L604L|NR4A2_ENST00000426264.1_Silent_p.L530L	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	593					cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						GTAAAGTGTCCAGGAAAAGTT	0.473000													34	103					0	0	1	0	0
KIAA2026	158358	broad.mit.edu	37	9	5988525	5988525	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:5988525G>A	ENST00000399933.3	-	2	613	c.614C>T	c.(613-615)aCg>aTg	p.T205M	KIAA2026_ENST00000381461.2_Missense_Mutation_p.T205M	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	205										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		AACTGCTATCGTTGTCTTTTC	0.448000													4	122					0	0	1	0	0
DAPL1	92196	broad.mit.edu	37	2	159672323	159672323	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:159672323G>A	ENST00000309950.3	+	4	370	c.314G>A	c.(313-315)cGa>cAa	p.R105Q	DAPL1_ENST00000409042.1_Intron	NM_001017920.2	NP_001017920.2	A0PJW8	DAPL1_HUMAN	death associated protein-like 1	105					apoptosis|cell differentiation					prostate(1)	1						CAGCAGCCTCGAAAATGTTAA	0.463000													28	97					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131793005	131793005	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr8:131793005C>T	ENST00000286355.5	-	18	5479	c.3387G>A	c.(3385-3387)cgG>cgA	p.R1129R	ADCY8_ENST00000377928.3_Silent_p.R998R	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1129					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GGACTTGGATCCGGCCACTAA	0.527000										HNSCC(32;0.087)			37	135					0	0	1	0	0
OR1F1	4992	broad.mit.edu	37	16	3254586	3254586	+	Missense_Mutation	SNP	C	C	T	rs149534710		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:3254586C>T	ENST00000304646.2	+	1	340	c.340C>T	c.(340-342)Ctc>Ttc	p.L114F	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						GGACAATTTCCTCCTAGCTGT	0.507000													45	204					0	0	1	0	0
SULF2	55959	broad.mit.edu	37	20	46311796	46311796	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:46311796C>G	ENST00000359930.4	-	7	1857	c.1006G>C	c.(1006-1008)Gag>Cag	p.E336Q	SULF2_ENST00000484875.1_Missense_Mutation_p.E336Q|SULF2_ENST00000467815.1_Missense_Mutation_p.E336Q|CTD-2653D5.1_ENST00000526566.2_RNA|SULF2_ENST00000361612.4_Missense_Mutation_p.E336Q	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	336					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						ATGTCAAACTCATATGGCATG	0.597000													24	37					0	0	1	0	0
ZC2HC1C	79696	broad.mit.edu	37	14	75538544	75538544	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr14:75538544C>T	ENST00000524913.1	+	2	1757	c.1268C>T	c.(1267-1269)tCc>tTc	p.S423F	ZC2HC1C_ENST00000238686.8_Intron|ZC2HC1C_ENST00000526748.1_Intron|ZC2HC1C_ENST00000439583.2_Intron	NM_024643.2	NP_078919.2	Q53FD0	F164C_HUMAN	zinc finger, C2HC-type containing 1C	0																	GTGTTTGACTCCTCCAGGGCC	0.552000													21	42					0	0	1	0	0
ZBED4	9889	broad.mit.edu	37	22	50278454	50278454	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr22:50278454G>A	ENST00000216268.4	+	2	1621	c.1144G>A	c.(1144-1146)Gag>Aag	p.E382K		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	382						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GCCGGTCAGAGAGTCCCCTTC	0.632000													16	56					0	0	1	0	0
SLC16A12	387700	broad.mit.edu	37	10	91198720	91198720	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:91198720C>G	ENST00000341233.4	-	6	969	c.579G>C	c.(577-579)ttG>ttC	p.L193F	SLC16A12_ENST00000371790.4_Missense_Mutation_p.L223F	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12	193						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						TTGGCCTCATCAAGGCACCAC	0.473000													15	59					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23901905	23901905	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr14:23901905C>T	ENST00000355349.3	-	5	607	c.445G>A	c.(445-447)Gag>Aag	p.E149K		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	149	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GGCGGGGCCTCGCTCCTCTTC	0.597000													38	145					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195505851	195505851	+	Silent	SNP	T	T	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:195505851T>C	ENST00000463781.3	-	2	13059	c.12600A>G	c.(12598-12600)tcA>tcG	p.S4200S	MUC4_ENST00000475231.1_Silent_p.S4200S|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	963					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CTGTGGATGCTGAGGAAGTGT	0.592000													3	11					0	0	1	0	0
CCDC27	148870	broad.mit.edu	37	1	3683959	3683959	+	Nonsense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:3683959C>T	ENST00000294600.2	+	10	1777	c.1693C>T	c.(1693-1695)Cag>Tag	p.Q565*		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	565										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		GGAGATGATTCAGCAGGCAGA	0.627000													5	30					0	0	1	0	0
TRAV39	28642	broad.mit.edu	37	14	22772313	22772313	+	RNA	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr14:22772313C>G	ENST00000390466.1	+	0	206																											GTGTTGCTATCAAATGGAGCA	0.478000													18	9					0	0	1	0	0
EFCAB13	124989	broad.mit.edu	37	17	45479497	45479497	+	Splice_Site	SNP	G	G	A	rs138059918	by1000genomes	TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:45479497G>A	ENST00000331493.2	+	18	2356		c.e18-1		EFCAB13_ENST00000517484.1_Splice_Site	NM_152347.4	NP_689560.3			EF-hand calcium binding domain 13																		TTTTCTCACAGAAGGTGACAA	0.338000													15	45					0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20404616	20404616	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr14:20404616G>C	ENST00000285600.4	+	1	850	c.791G>C	c.(790-792)aGa>aCa	p.R264T		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CCTTTTAGCAGACTTCCTGTG	0.418000													15	325					0	0	1	0	0
LRFN4	78999	broad.mit.edu	37	11	66626559	66626559	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:66626559C>G	ENST00000309602.4	+	1	1587	c.1344C>G	c.(1342-1344)atC>atG	p.I448M	LRFN4_ENST00000393952.3_Intron|PC_ENST00000393958.2_Intron|PC_ENST00000393960.1_Intron|PC_ENST00000393955.2_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	448	Fibronectin type-III.					integral to membrane				breast(1)|lung(1)|prostate(1)	3						AGACCCTCATCTACCGGTGAG	0.657000													28	67					0	0	1	0	0
ISG15	9636	broad.mit.edu	37	1	949534	949534	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:949534C>T	ENST00000379389.4	+	2	325	c.174C>T	c.(172-174)gtC>gtT	p.V58V		NM_005101.3	NP_005092.1	P05161	ISG15_HUMAN	ISG15 ubiquitin-like modifier	58	Ubiquitin-like 1.				cell-cell signaling|interspecies interaction between organisms|ISG15-protein conjugation|negative regulation of type I interferon production|response to virus|type I interferon-mediated signaling pathway	cytosol|extracellular space	protein binding			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.05e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.54e-23)|Colorectal(212;5.37e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00238)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		AGGACAGGGTCCCCCTTGCCA	0.652000													14	36					0	0	1	0	0
SENP3	26168	broad.mit.edu	37	17	7474754	7474754	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:7474754C>T	ENST00000321337.7	+	12	1995	c.1675C>T	c.(1675-1677)Cgt>Tgt	p.R559C	SENP3_ENST00000429205.2_Missense_Mutation_p.R560C|SENP3-EIF4A1_ENST00000579777.1_RNA|SENP3_ENST00000578868.1_3'UTR	NM_015670.5	NP_056485.2	Q9H4L4	SENP3_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 3	560					proteolysis	MLL1 complex|nucleolus	cysteine-type peptidase activity			central_nervous_system(1)|ovary(1)	2		Prostate(122;0.157)				GCCCAAACTTCGTCGGCAGAT	0.552000													21	52					0	0	1	0	0
BUB1B	701	broad.mit.edu	37	15	40512778	40512778	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:40512778G>A	ENST00000287598.6	+	23	3166	c.2971G>A	c.(2971-2973)Gaa>Aaa	p.E991K	PAK6_ENST00000441369.1_Intron|BUB1B_ENST00000412359.3_Missense_Mutation_p.E1005K|PAK6_ENST00000453867.1_Intron|RP11-133K1.2_ENST00000558658.1_Intron	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	991	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		AAAAGATGGTGAATTGTGGAA	0.353000			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				39	145					0	0	1	0	0
SEMA3C	10512	broad.mit.edu	37	7	80418629	80418629	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:80418629G>A	ENST00000265361.3	-	12	1908	c.1347C>T	c.(1345-1347)ctC>ctT	p.L449L	SEMA3C_ENST00000419255.2_Silent_p.L449L|SEMA3C_ENST00000544525.1_Silent_p.L467L	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	449	Sema.				immune response|response to drug	membrane	receptor activity	p.L449L(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TACCTGTTCCGAGAAACAGGA	0.393000													31	105					0	0	1	0	0
PLAGL2	5326	broad.mit.edu	37	20	30784442	30784442	+	Missense_Mutation	SNP	C	C	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:30784442C>A	ENST00000246229.4	-	3	1568	c.1304G>T	c.(1303-1305)gGa>gTa	p.G435V		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	435						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GACCAGGCCTCCTGTGGCCCC	0.607000													5	101					0.014758	0.0148765	1	1	0
ZNF709	163051	broad.mit.edu	37	19	12575149	12575149	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:12575149C>T	ENST00000397732.3	-	4	1758	c.1587G>A	c.(1585-1587)gaG>gaA	p.E529E	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Silent_p.E529E	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	529					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						CATAGGGTTTCTCCCCAGTGT	0.428000													56	257					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16259289	16259289	+	Missense_Mutation	SNP	C	C	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:16259289C>A	ENST00000375759.3	+	11	6758	c.6554C>A	c.(6553-6555)tCt>tAt	p.S2185Y		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2185	Interaction with MSX2 (By similarity).				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)		GCTGAGGCCTCTGCCTCTGCT	0.622000													24	77					2.89027e-11	3.03893e-11	1	1	0
ERCC6L2	375748	broad.mit.edu	37	9	98728877	98728877	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:98728877G>A	ENST00000288985.7	+	14	2319	c.2014G>A	c.(2014-2016)Gcc>Acc	p.A672T	ERCC6L2_ENST00000466840.1_3'UTR|ERCC6L2_ENST00000437817.1_Missense_Mutation_p.A483T	NM_001010895.2	NP_001010895.1	Q5T890	RAD26_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2	672	Helicase C-terminal.				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding										AAGTGAAAATGCCAAACGATA	0.393000													27	78					0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	167016198	167016198	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:167016198G>A	ENST00000392766.2	-	18	2114	c.1774C>T	c.(1774-1776)Caa>Taa	p.Q592*	ZBBX_ENST00000392764.1_Nonsense_Mutation_p.Q563*|ZBBX_ENST00000392767.2_Nonsense_Mutation_p.Q592*|ZBBX_ENST00000455345.2_Nonsense_Mutation_p.Q592*|ZBBX_ENST00000307529.5_Nonsense_Mutation_p.Q592*	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	592						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TCAAGTCCTTGATATTGTTTT	0.299000													78	155					0	0	1	0	0
CELF1	10658	broad.mit.edu	37	11	47494778	47494778	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:47494778C>T	ENST00000395290.2	-	11	1201	c.1192G>A	c.(1192-1194)Gag>Aag	p.E398K	CELF1_ENST00000395292.2_Missense_Mutation_p.E396K|CELF1_ENST00000539455.1_5'UTR|CELF1_ENST00000531165.1_Missense_Mutation_p.E427K|CELF1_ENST00000532048.1_Missense_Mutation_p.E425K|CELF1_ENST00000361904.3_Missense_Mutation_p.E396K|CELF1_ENST00000358597.3_Missense_Mutation_p.E399K|CELF1_ENST00000310513.5_Missense_Mutation_p.E395K	NM_001025596.2|NM_001172640.1	NP_001020767.1|NP_001166111.1	Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1	399					embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						TTGGCTCCCTCTGGACCTTCA	0.488000													16	49					0	0	1	0	0
SLC25A16	8034	broad.mit.edu	37	10	70253232	70253232	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:70253232G>A	ENST00000265870.2	-	5	615	c.517C>T	c.(517-519)Cat>Tat	p.H173Y	SLC25A16_ENST00000539557.1_Missense_Mutation_p.H75Y|SLC25A16_ENST00000493963.1_5'UTR	NM_152707.3	NP_689920.1	P16260	GDC_HUMAN	solute carrier family 25 (mitochondrial carrier; Graves disease autoantigen), member 16	173					coenzyme biosynthetic process|pantothenate metabolic process	integral to membrane|mitochondrial inner membrane	binding|solute:solute antiporter activity			endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	7						TTGAAAGCATGAATAATTCCT	0.363000													18	65					0	0	1	0	0
KCTD16	57528	broad.mit.edu	37	5	143586985	143586985	+	Silent	SNP	T	T	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:143586985T>A	ENST00000507359.2	+	2	1799	c.708T>A	c.(706-708)gcT>gcA	p.A236A	KCTD16_ENST00000512467.1_Silent_p.A236A	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	236						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			TGGAAAGGGCTTTTGATATGT	0.428000													4	131					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21765447	21765447	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:21765447G>C	ENST00000328843.6	+	46	7337	c.7306G>C	c.(7306-7308)Gac>Cac	p.D2436H	DNAH11_ENST00000409508.3_Missense_Mutation_p.D2429H			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2436					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTATCAAGCTGACTTCAGTCG	0.328000									Kartagener syndrome				3	10					0	0	1	0	0
GPSM3	63940	broad.mit.edu	37	6	32159206	32159206	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:32159206C>T	ENST00000375040.3	-	4	812	c.420G>A	c.(418-420)ctG>ctA	p.L140L	GPSM3_ENST00000375043.3_Silent_p.L140L|GPSM3_ENST00000487761.1_Silent_p.L137L	NM_001276501.1	NP_001263430.1	Q9Y4H4	GPSM3_HUMAN	G-protein signaling modulator 3	140	GoLoco 3.				signal transduction	cytoplasm	GTPase activator activity|protein binding			large_intestine(1)	1						CCTGAACTCTCAGCAGCAACT	0.652000													23	73					0	0	1	0	0
TMEM252	169693	broad.mit.edu	37	9	71152315	71152315	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:71152315G>C	ENST00000377311.3	-	2	425	c.373C>G	c.(373-375)Cta>Gta	p.L125V		NM_153237.1	NP_694969.1			transmembrane protein 252																		TCTGTATATAGAGGTGGAGGA	0.552000													15	50					0	0	1	0	0
MYBPC2	4606	broad.mit.edu	37	19	50962509	50962509	+	Missense_Mutation	SNP	A	A	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:50962509A>T	ENST00000357701.5	+	23	2788	c.2737A>T	c.(2737-2739)Agc>Tgc	p.S913C		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	913	Ig-like C2-type 6.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GTACGAGCTGAGCGTGCAGAT	0.701000													8	39					0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33657052	33657052	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:33657052G>C	ENST00000374316.5	+	51	7792	c.6732G>C	c.(6730-6732)tgG>tgC	p.W2244C	ITPR3_ENST00000605930.1_Missense_Mutation_p.W2244C			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2244					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						TGCTCTTCTGGATCCTCATCT	0.642000													21	76					0	0	1	0	0
SGCE	8910	broad.mit.edu	37	7	94230021	94230021	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:94230021G>A	ENST00000415788.2	-	8	1169	c.1082C>T	c.(1081-1083)tCg>tTg	p.S361L	SGCE_ENST00000437425.2_Missense_Mutation_p.S284L|SGCE_ENST00000428696.2_Missense_Mutation_p.S325L|SGCE_ENST00000445866.2_Missense_Mutation_p.S325L|SGCE_ENST00000265735.7_Missense_Mutation_p.S325L|SGCE_ENST00000447873.1_Missense_Mutation_p.S325L			O43556	SGCE_HUMAN	sarcoglycan, epsilon	325					cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TGCCACTGCCGAGGGCACAGC	0.433000													16	73					0	0	1	0	0
GGTLC1	92086	broad.mit.edu	37	20	23966319	23966319	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:23966319C>G	ENST00000335694.4	-	5	720	c.516G>C	c.(514-516)gaG>gaC	p.E172D	GGTLC1_ENST00000278765.4_Missense_Mutation_p.E172D|GGTLC1_ENST00000286890.4_Missense_Mutation_p.E172D	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	172							gamma-glutamyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						CAATGTTTCTCTCCACTGTCG	0.607000													14	121					0	0	1	0	0
DYX1C1	161582	broad.mit.edu	37	15	55783446	55783446	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:55783446C>G	ENST00000321149.3	-	4	647	c.280G>C	c.(280-282)Gag>Cag	p.E94Q	DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000448430.2_Missense_Mutation_p.E94Q|DYX1C1_ENST00000457155.2_Missense_Mutation_p.E94Q|DYX1C1_ENST00000348518.3_Missense_Mutation_p.E94Q|DYX1C1_ENST00000380679.1_Missense_Mutation_p.E94Q	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1	94	Mediates interaction with ESR1 and STUB1.				neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		TGCATCATCTCTTTGTCAACT	0.323000													13	47					0	0	1	0	0
ALB	213	broad.mit.edu	37	4	74274350	74274350	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:74274350C>G	ENST00000295897.4	+	4	399	c.310C>G	c.(310-312)Ctt>Gtt	p.L104V	ALB_ENST00000503124.1_Intron|ALB_ENST00000509063.1_Missense_Mutation_p.L104V|ALB_ENST00000401494.3_Intron|ALB_ENST00000415165.2_Intron	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	104	Albumin 1.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	AGTTGCAACTCTTCGTGAAAC	0.413000													13	67					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6214862	6214862	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:6214862G>C	ENST00000262450.3	-	5	702	c.603C>G	c.(601-603)ttC>ttG	p.F201L	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	201					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		AGCTGCCCTTGAAGGGGTTGT	0.657000													15	52					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14291174	14291174	+	Nonsense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:14291174C>G	ENST00000344204.4	+	5	914	c.890C>G	c.(889-891)tCa>tGa	p.S297*	TRIO_ENST00000537187.1_Nonsense_Mutation_p.S297*|TRIO_ENST00000509967.2_Nonsense_Mutation_p.S248*	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	297					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AAAAAGAACTCAGGCTCAGGC	0.547000													16	76					0	0	1	0	0
SNX5	27131	broad.mit.edu	37	20	17932200	17932200	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:17932200C>T	ENST00000377768.3	-	7	865	c.553G>A	c.(553-555)Ggc>Agc	p.G185S	SNX5_ENST00000483485.1_5'UTR|SNX5_ENST00000377759.4_Missense_Mutation_p.G185S	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN	sorting nexin 5	185					cell communication|pinocytosis|protein transport	cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle	phosphatidylinositol binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						TTGAAGAAGCCACCAAACATC	0.348000													22	123					0	0	1	0	0
FER	2241	broad.mit.edu	37	5	108290552	108290552	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:108290552G>C	ENST00000281092.4	+	12	1836	c.1452G>C	c.(1450-1452)gaG>gaC	p.E484D	FER_ENST00000536402.1_3'UTR|FER_ENST00000438717.2_Missense_Mutation_p.E309D	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	484	SH2.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		TGGTGCGAGAGAGTCATGGGA	0.403000													17	91					0	0	1	0	0
ELK3	2004	broad.mit.edu	37	12	96653599	96653599	+	Missense_Mutation	SNP	G	G	A	rs143649233		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:96653599G>A	ENST00000228741.3	+	4	1419	c.1093G>A	c.(1093-1095)Gcc>Acc	p.A365T	ELK3_ENST00000552142.1_Missense_Mutation_p.A100T|ELK3_ENST00000549529.1_3'UTR	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN	ELK3, ETS-domain protein (SRF accessory protein 2)	365					negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					GCTGAGTCCTGCCAGGCTGCA	0.498000													13	79					0	0	1	0	0
CCT6A	908	broad.mit.edu	37	7	56129470	56129470	+	Nonsense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:56129470C>T	ENST00000275603.4	+	12	1597	c.1378C>T	c.(1378-1380)Cag>Tag	p.Q460*	CCT6A_ENST00000335503.3_Nonsense_Mutation_p.Q415*|CCT6A_ENST00000540286.1_Nonsense_Mutation_p.Q429*|CCT6A_ENST00000462133.1_3'UTR	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	460					'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TTTTGACCTTCAGGAAACATT	0.343000													8	38					0	0	1	0	0
TMCO5A	145942	broad.mit.edu	37	15	38229091	38229091	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:38229091G>A	ENST00000558158.1	+	4	338	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	TMCO5A_ENST00000559502.1_Missense_Mutation_p.E62K|TMCO5A_ENST00000319669.4_Missense_Mutation_p.E62K|TMCO5A_ENST00000540944.1_Missense_Mutation_p.E62K			Q8N6Q1	TMC5A_HUMAN	transmembrane and coiled-coil domains 5A	62						integral to membrane				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						GGTGGAAGATGAAGAGTGGGA	0.522000													13	35					0	0	1	0	0
SH3TC2	79628	broad.mit.edu	37	5	148389898	148389898	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:148389898C>T	ENST00000538184.1	-	10	2791	c.1903G>A	c.(1903-1905)Gaa>Aaa	p.E635K	SH3TC2_ENST00000515425.1_Missense_Mutation_p.E1088K|SH3TC2_ENST00000512049.1_Missense_Mutation_p.E1081K			Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	1088							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGCTTCTTCATAAAGTTTG	0.532000													17	60					0	0	1	0	0
SULT1C4	27233	broad.mit.edu	37	2	108998900	108998900	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:108998900C>T	ENST00000272452.2	+	3	681	c.355C>T	c.(355-357)Cac>Tac	p.H119Y	SULT1C4_ENST00000409309.3_Intron	NM_006588.2	NP_006579.2	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 4	119					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						TCTTCCCTTTCACTTGCTGCC	0.393000													49	173					0	0	1	0	0
PABPC5	140886	broad.mit.edu	37	X	90691441	90691441	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:90691441G>C	ENST00000312600.3	+	2	1079	c.865G>C	c.(865-867)Gaa>Caa	p.E289Q	PABPC5_ENST00000373105.1_Missense_Mutation_p.E125Q	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	289						cytoplasm	nucleotide binding|RNA binding			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						GCGGAGATTTGAACGGCTGAG	0.448000													12	23					0	0	1	0	0
MAFB	9935	broad.mit.edu	37	20	39317034	39317034	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:39317034C>G	ENST00000373313.2	-	1	846	c.457G>C	c.(457-459)Gac>Cac	p.D153H	MAFB_ENST00000396967.1_Missense_Mutation_p.D153H	NM_005461.3	NP_005452.2	Q9Y5Q3	MAFB_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B	153					negative regulation of erythrocyte differentiation		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			kidney(1)|large_intestine(1)	2		Myeloproliferative disorder(115;0.00878)				CCCAGCTCGTCGTGGGCCACG	0.711000			T	IGH@	MM								6	13					0	0	1	0	0
SH3BP4	23677	broad.mit.edu	37	2	235950877	235950877	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:235950877C>G	ENST00000409212.1	+	4	1971	c.1464C>G	c.(1462-1464)ttC>ttG	p.F488L	SH3BP4_ENST00000392011.2_Missense_Mutation_p.F488L|SH3BP4_ENST00000344528.4_Missense_Mutation_p.F488L			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	488					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		ACCCATCCTTCAAGACGGTAG	0.577000													25	74					0	0	1	0	0
ZMYND12	84217	broad.mit.edu	37	1	42914180	42914180	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:42914180C>G	ENST00000372565.3	-	3	651	c.382G>C	c.(382-384)Gag>Cag	p.E128Q	ZMYND12_ENST00000433602.2_Intron	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	128						intracellular	zinc ion binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGCACAAGCTCTACGGAGCTC	0.527000													15	30					0	0	1	0	0
SNAP91	9892	broad.mit.edu	37	6	84375259	84375259	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:84375259G>A	ENST00000428679.2	-	3	765	c.172C>T	c.(172-174)Cag>Tag	p.Q58*	SNAP91_ENST00000439399.2_Nonsense_Mutation_p.Q58*|SNAP91_ENST00000369694.2_Nonsense_Mutation_p.Q58*|SNAP91_ENST00000520302.1_Nonsense_Mutation_p.Q58*|SNAP91_ENST00000521485.1_Nonsense_Mutation_p.Q58*|SNAP91_ENST00000437520.1_Nonsense_Mutation_p.Q58*|SNAP91_ENST00000520213.1_Nonsense_Mutation_p.Q58*|SNAP91_ENST00000521743.1_Nonsense_Mutation_p.Q58*|SNAP91_ENST00000195649.6_Nonsense_Mutation_p.Q58*			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	58	ENTH.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TCGGCCATCTGAGGAATATTA	0.378000													20	99					0	0	1	0	0
SURF6	6838	broad.mit.edu	37	9	136199081	136199081	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:136199081C>T	ENST00000372022.4	-	5	975	c.710G>A	c.(709-711)cGg>cAg	p.R237Q	SURF6_ENST00000468290.1_5'UTR	NM_006753.4	NP_006744.2	O75683	SURF6_HUMAN	surfeit 6	237						granular component	DNA binding|RNA binding			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12				OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)		CAGCAGCTGCCGGTAGTTCCT	0.672000													12	74					0	0	1	0	0
DNPEP	23549	broad.mit.edu	37	2	220247868	220247868	+	Silent	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:220247868G>C	ENST00000273075.4	-	10	1141	c.921C>G	c.(919-921)ctC>ctG	p.L307L	DNPEP_ENST00000373972.1_Silent_p.L232L|DNPEP_ENST00000523282.1_Silent_p.L315L	NM_012100.2	NP_036232.2	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	297					peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	L-Glutamic Acid(DB00142)	CGTTGTCATAGAGTGTGACCA	0.582000													22	44					0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176684087	176684087	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:176684087G>A	ENST00000439151.2	+	13	4946	c.4901G>A	c.(4900-4902)cGg>cAg	p.R1634Q	NSD1_ENST00000347982.4_Missense_Mutation_p.R1365Q|NSD1_ENST00000354179.4_Missense_Mutation_p.R1365Q|NSD1_ENST00000361032.4_Missense_Mutation_p.R1531Q	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1634					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)		AAGGGCTTCCGGTGCTCCCTC	0.443000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			16	51					0	0	1	0	0
SH3TC1	54436	broad.mit.edu	37	4	8229622	8229622	+	Nonsense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:8229622C>G	ENST00000539824.1	+	12	2347	c.1973C>G	c.(1972-1974)tCa>tGa	p.S658*	SH3TC1_ENST00000245105.3_Nonsense_Mutation_p.S734*			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	734							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						AAGGTGGCCTCATTGCGGACA	0.657000													13	51					0	0	1	0	0
ACSBG2	81616	broad.mit.edu	37	19	6185518	6185518	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:6185518G>C	ENST00000588304.1	+	11	1690	c.1244G>C	c.(1243-1245)tGc>tCc	p.C415S	ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000586696.1_Missense_Mutation_p.C465S|ACSBG2_ENST00000591403.1_Missense_Mutation_p.C465S|ACSBG2_ENST00000588485.1_Missense_Mutation_p.C278S|ACSBG2_ENST00000252669.5_Missense_Mutation_p.C465S			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	465					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGGGAGATCTGCCTCTGGGGT	0.527000													49	216					0	0	1	0	0
NLRC3	197358	broad.mit.edu	37	16	3611708	3611708	+	RNA	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:3611708C>G	ENST00000301749.7	-	0	2415				NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000603507.1_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTTACCTGATCTTCTGAATGC	0.612000													22	89					0	0	1	0	0
OR4L1	122742	broad.mit.edu	37	14	20528443	20528443	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr14:20528443G>A	ENST00000315683.1	+	1	240	c.240G>A	c.(238-240)aaG>aaA	p.K80K		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		CAACACCCAAGATGATCATAG	0.478000													73	71					0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39874094	39874094	+	Silent	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:39874094G>C	ENST00000260356.5	+	2	201	c.36G>C	c.(34-36)ctG>ctC	p.L12L		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	12					activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	TCCTGTTCCTGATGCATGTGT	0.597000											OREG0023050	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	44					0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128176229	128176229	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:128176229G>A	ENST00000543064.1	-	2	344	c.196C>T	c.(196-198)Cag>Tag	p.Q66*	THEMIS_ENST00000368248.2_Nonsense_Mutation_p.Q66*|THEMIS_ENST00000537166.1_Nonsense_Mutation_p.Q31*|THEMIS_ENST00000368250.1_5'UTR	NM_001164685.1	NP_001158157.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	66	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						CCTTCAATCTGCTCACAAATT	0.338000													18	69					0	0	1	0	0
FMNL2	114793	broad.mit.edu	37	2	153475613	153475613	+	Nonsense_Mutation	SNP	C	C	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:153475613C>A	ENST00000288670.9	+	14	1935	c.1568C>A	c.(1567-1569)tCa>tAa	p.S523*		NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	523					actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						GCCGCTTCCTCAGGACCCTTG	0.557000													16	36					6.94344e-10	7.24856e-10	1	1	0
RGS12	6002	broad.mit.edu	37	4	3427279	3427279	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:3427279G>C	ENST00000336727.3	+	14	4227	c.3323G>C	c.(3322-3324)aGa>aCa	p.R1108T	RGS12_ENST00000538395.1_Missense_Mutation_p.R450T|RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000382788.3_Missense_Mutation_p.R1108T|RGS12_ENST00000344733.5_Missense_Mutation_p.R1108T|RGS12_ENST00000338806.4_Missense_Mutation_p.R460T|RGS12_ENST00000306648.7_Missense_Mutation_p.R506T	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1108						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GATCCTTCCAGAGGAAAGGGT	0.632000													24	99					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109398721	109398721	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:109398721G>A	ENST00000283195.6	+	27	9024	c.8898G>A	c.(8896-8898)aaG>aaA	p.K2966K		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2966	RanBD1 4.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATACAATGAAGAATTATTACC	0.378000													32	107					0	0	1	0	0
NMNAT1	64802	broad.mit.edu	37	1	10041193	10041193	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:10041193C>G	ENST00000377205.1	+	4	548	c.404C>G	c.(403-405)tCt>tGt	p.S135C	NMNAT1_ENST00000403197.1_Missense_Mutation_p.S135C	NM_022787.3	NP_073624.2	Q9HAN9	NMNA1_HUMAN	nicotinamide nucleotide adenylyltransferase 1	135					water-soluble vitamin metabolic process	nucleoplasm	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity|protein binding			large_intestine(2)|lung(2)|stomach(1)	5		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.31e-08)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(185;0.00028)|BRCA - Breast invasive adenocarcinoma(304;0.00032)|KIRC - Kidney renal clear cell carcinoma(229;0.00101)|STAD - Stomach adenocarcinoma(132;0.00908)|READ - Rectum adenocarcinoma(331;0.0419)		ACACAAGATTCTAGTCAAAAG	0.438000													29	65					0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7796589	7796589	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:7796589C>T	ENST00000303635.7	+	13	3459	c.3252C>T	c.(3250-3252)ctC>ctT	p.L1084L	CAMTA1_ENST00000439411.2_Silent_p.L1084L	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1084					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TCCAGACCCTCATCAAATGGC	0.582000			T	WWTR1	epitheliod hemangioendothelioma								19	63					0	0	1	0	0
HNRNPUL2	221092	broad.mit.edu	37	11	62489736	62489736	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:62489736G>A	ENST00000301785.5	-	7	1404	c.1212C>T	c.(1210-1212)ctC>ctT	p.L404L	RP11-831H9.16_ENST00000403734.2_Silent_p.L404L	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	404	B30.2/SPRY.				cell killing	nucleus	ATP binding|nucleic acid binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						AATTTTTGCAGAGGACATGGG	0.488000													25	104					0	0	1	0	0
ST5	6764	broad.mit.edu	37	11	8752626	8752626	+	Missense_Mutation	SNP	G	G	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:8752626G>T	ENST00000534127.1	-	6	596	c.211C>A	c.(211-213)Cac>Aac	p.H71N	ST5_ENST00000530438.1_Intron|ST5_ENST00000313726.6_Missense_Mutation_p.H71N|ST5_ENST00000526757.1_Intron|ST5_ENST00000357665.1_Missense_Mutation_p.H71N	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	71	Pro-rich.				positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GCTGGGGGGTGCCGGTCCTTG	0.607000													19	42					1.37657e-19	1.47202e-19	1	1	0
FBXO18	84893	broad.mit.edu	37	10	5963255	5963255	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:5963255G>A	ENST00000379999.5	+	15	2392	c.2288G>A	c.(2287-2289)gGa>gAa	p.G763E	FBXO18_ENST00000397269.3_Missense_Mutation_p.G199E|FBXO18_ENST00000362091.4_Missense_Mutation_p.G712E|FBXO18_ENST00000379994.1_Intron	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	712					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						GCTTATGTGGGAGCTACTATC	0.448000													23	85					0	0	1	0	0
MEST	4232	broad.mit.edu	37	7	130138034	130138034	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:130138034C>T	ENST00000223215.4	+	5	615	c.394C>T	c.(394-396)Cgg>Tgg	p.R132W	MEST_ENST00000462132.1_3'UTR|MEST_ENST00000393187.1_Missense_Mutation_p.R123W|MEST_ENST00000437945.1_Missense_Mutation_p.R132W|MEST_ENST00000416162.2_Missense_Mutation_p.R123W|MEST_ENST00000378576.4_Missense_Mutation_p.R123W|hsa-mir-335_ENST00000604666.1_RNA|MEST_ENST00000341441.4_Missense_Mutation_p.R123W	NM_001253900.1|NM_002402.3	NP_001240829.1|NP_002393.2	Q5EB52	MEST_HUMAN	mesoderm specific transcript	132					mesoderm development	endoplasmic reticulum membrane|integral to membrane	hydrolase activity|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12	Melanoma(18;0.0435)					AGCGCTTTTGCGGCATCTGGG	0.498000													18	111					0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74491407	74491407	+	Missense_Mutation	SNP	C	C	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:74491407C>A	ENST00000394019.2	-	10	979	c.582G>T	c.(580-582)caG>caT	p.Q194H	RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000423644.1_Missense_Mutation_p.Q194H|SLC4A5_ENST00000377632.1_Missense_Mutation_p.Q194H|SLC4A5_ENST00000377634.4_Missense_Mutation_p.Q194H|SLC4A5_ENST00000359484.4_Missense_Mutation_p.Q130H|SLC4A5_ENST00000358683.4_Missense_Mutation_p.Q130H|SLC4A5_ENST00000357822.5_Missense_Mutation_p.Q194H|SLC4A5_ENST00000346834.4_Missense_Mutation_p.Q194H|SLC4A5_ENST00000483195.1_5'UTR	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	194						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CATCCTCAATCTGCTTCTCAA	0.537000													13	36					7.03913e-09	7.3137e-09	1	1	0
DTX3	196403	broad.mit.edu	37	12	58002900	58002900	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:58002900G>A	ENST00000548198.1	+	5	2513	c.1009G>A	c.(1009-1011)Gag>Aag	p.E337K	DTX3_ENST00000337737.3_Missense_Mutation_p.E337K|DTX3_ENST00000548804.1_Missense_Mutation_p.E337K|DTX3_ENST00000551632.1_Missense_Mutation_p.E340K			Q8N9I9	DTX3_HUMAN	deltex homolog 3 (Drosophila)	337					Notch signaling pathway	cytoplasm	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					CCGGGTGCAAGAGGAGCTGAG	0.547000													5	50					0	0	1	0	0
EOMES	8320	broad.mit.edu	37	3	27758815	27758815	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:27758815C>T	ENST00000295743.4	-	6	2010	c.1807G>A	c.(1807-1809)Gat>Aat	p.D603N	EOMES_ENST00000537516.1_Missense_Mutation_p.D327N|EOMES_ENST00000449599.1_Missense_Mutation_p.D622N			O95936	EOMES_HUMAN	eomesodermin	603	Required for transcription activation (By similarity).				CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						GAGAGCTGATCTTCAGAGAAC	0.493000													19	86					0	0	1	0	0
FAM129C	199786	broad.mit.edu	37	19	17664289	17664289	+	Nonsense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:17664289C>T	ENST00000335393.4	+	16	2149	c.2011C>T	c.(2011-2013)Cag>Tag	p.Q671*	FAM129C_ENST00000449408.2_Nonsense_Mutation_p.Q397*|FAM129C_ENST00000601861.1_Nonsense_Mutation_p.Q640*	NM_173544.4	NP_775815.2	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	671										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						GTTCTTGGTTCAGCTTGCAGA	0.522000													28	109					0	0	1	0	0
NUP93	9688	broad.mit.edu	37	16	56782220	56782220	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:56782220G>C	ENST00000569842.1	+	2	157	c.61G>C	c.(61-63)Gag>Cag	p.E21Q	NUP93_ENST00000308159.5_Missense_Mutation_p.E21Q			Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	21					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TGCTGAGACTGAGGGCATCTC	0.537000													18	78					0	0	1	0	0
ROCK2	9475	broad.mit.edu	37	2	11355687	11355687	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:11355687G>C	ENST00000315872.6	-	14	1994	c.1546C>G	c.(1546-1548)Cag>Gag	p.Q516E	ROCK2_ENST00000401753.1_Missense_Mutation_p.Q273E	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	516	Interaction with PPP1R12A.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		GCTTTCCTCTGATATTCTGCA	0.333000													26	130					0	0	1	0	0
ALDOA	226	broad.mit.edu	37	16	30081230	30081230	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:30081230G>A	ENST00000566897.1	+	11	2031	c.879G>A	c.(877-879)ctG>ctA	p.L293L	ALDOA_ENST00000569798.1_Silent_p.L293L|ALDOA_ENST00000569545.1_Silent_p.L293L|ALDOA_ENST00000563060.2_Silent_p.L293L|ALDOA_ENST00000338110.5_Silent_p.L293L|ALDOA_ENST00000395240.3_Silent_p.L297L|ALDOA_ENST00000564595.2_Silent_p.L347L|ALDOA_ENST00000395248.1_Silent_p.L347L|ALDOA_ENST00000564546.1_Silent_p.L293L|ALDOA_ENST00000412304.2_Silent_p.L293L			P04075	ALDOA_HUMAN	aldolase A, fructose-bisphosphate	293					actin filament organization|ATP biosynthetic process|fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|muscle cell homeostasis|platelet activation|platelet degranulation|protein homotetramerization|regulation of cell shape|striated muscle contraction	actin cytoskeleton|cytosol|extracellular vesicular exosome|I band|platelet alpha granule lumen	actin binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding|tubulin binding			breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						GCCCCCTGCTGAAGCCCTGGG	0.637000													14	40					0	0	1	0	0
SLC9A5	6553	broad.mit.edu	37	16	67293492	67293492	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:67293492C>T	ENST00000299798.11	+	11	1708	c.1643C>T	c.(1642-1644)tCt>tTt	p.S548F		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	548					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		CACGTCTTGTCTTCCACAGGT	0.522000													14	37					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57769308	57769308	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:57769308C>T	ENST00000371030.2	+	1	3234	c.3234C>T	c.(3232-3234)ctC>ctT	p.L1078L		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1078						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TCCATCGCCTCTGCATGGGCA	0.637000													4	20					0	0	1	0	0
ZNF217	7764	broad.mit.edu	37	20	52198540	52198540	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:52198540G>A	ENST00000371471.2	-	2	1251	c.826C>T	c.(826-828)Cac>Tac	p.H276Y	ZNF217_ENST00000302342.3_Missense_Mutation_p.H276Y			O75362	ZN217_HUMAN	zinc finger protein 217	276					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GTTTCAGGGTGAGATTTTGGT	0.547000													31	125					0	0	1	0	0
RBM47	54502	broad.mit.edu	37	4	40439927	40439927	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:40439927C>T	ENST00000319592.4	-	4	1693	c.984G>A	c.(982-984)caG>caA	p.Q328Q	RBM47_ENST00000295971.7_Silent_p.Q328Q|RBM47_ENST00000381795.6_Silent_p.Q328Q|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000514014.1_Silent_p.Q290Q|RBM47_ENST00000381793.2_Silent_p.Q328Q			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	328						nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						TGGCTGCCTTCTGGTAGCGCG	0.652000													14	46					0	0	1	0	0
FAM118A	55007	broad.mit.edu	37	22	45719278	45719278	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr22:45719278C>T	ENST00000216214.3	+	4	1104	c.270C>T	c.(268-270)gtC>gtT	p.V90V	FAM118A_ENST00000441876.2_Silent_p.V90V|FAM118A_ENST00000405673.1_Silent_p.V90V	NM_001104595.1	NP_001098065.1	Q9NWS6	F118A_HUMAN	family with sequence similarity 118, member A	90						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TGTTGGTTGTCGCCCATGATC	0.572000													19	58					0	0	1	0	0
PCSK2	5126	broad.mit.edu	37	20	17417514	17417514	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:17417514G>A	ENST00000262545.2	+	8	1186	c.871G>A	c.(871-873)Gat>Aat	p.D291N	PCSK2_ENST00000377899.1_Missense_Mutation_p.D272N|PCSK2_ENST00000536609.1_Missense_Mutation_p.D256N	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	291	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGCCATGGCCGATGGCGTGAA	0.632000													8	28					0	0	1	0	0
NUP153	9972	broad.mit.edu	37	6	17629246	17629246	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:17629246G>C	ENST00000262077.2	-	18	3183	c.3184C>G	c.(3184-3186)Cct>Gct	p.P1062A	NUP153_ENST00000537253.1_Missense_Mutation_p.P1093A	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	1062					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			CATGTGAAAGGAGCCACTGAA	0.478000													33	103					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21151926	21151926	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:21151926G>A	ENST00000261383.3	-	5	626	c.627C>T	c.(625-627)ctC>ctT	p.L209L	DNAH3_ENST00000415178.1_Silent_p.L209L|DNAH3_ENST00000575491.1_5'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	209	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACATGACATCGAGCTGCTGTT	0.483000													29	79					0	0	1	0	0
TMEM223	79064	broad.mit.edu	37	11	62559383	62559383	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:62559383C>T	ENST00000307366.7	-	1	110	c.84G>A	c.(82-84)acG>acA	p.T28T	TMEM223_ENST00000525631.1_Silent_p.T28T	NM_001080501.2	NP_001073970.1	A0PJW6	TM223_HUMAN	transmembrane protein 223	28			T -> A (in dbSNP:rs2584918).			integral to membrane											GTTGCAGCGTCGTGCCTTGCA	0.692000													4	9					0	0	1	0	0
PTPRJ	5795	broad.mit.edu	37	11	48157658	48157658	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:48157658G>C	ENST00000418331.2	+	9	2035	c.1683G>C	c.(1681-1683)aaG>aaC	p.K561N		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	561	Fibronectin type-III 6.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TGGACTGGAAGAGCCCTGACG	0.507000													23	94					0	0	1	0	0
POU2F3	25833	broad.mit.edu	37	11	120170351	120170351	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:120170351C>G	ENST00000260264.4	+	5	317	c.283C>G	c.(283-285)Ccg>Gcg	p.P95A	POU2F3_ENST00000543440.2_Missense_Mutation_p.P93A	NM_001244682.1	NP_001231611.1	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	93					negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		TTCCCTCCATCCGCTCCAGCA	0.577000											OREG0021419	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	33					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131826440	131826440	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr8:131826440G>A	ENST00000286355.5	-	14	4880	c.2788C>T	c.(2788-2790)Cga>Tga	p.R930*	ADCY8_ENST00000377928.3_Nonsense_Mutation_p.R799*	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	930					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.R930*(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GCCTGTACTCGCCAAAGGAAG	0.512000										HNSCC(32;0.087)			21	87					0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6527218	6527218	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:6527218C>G	ENST00000263125.5	-	10	1013	c.914G>C	c.(913-915)aGa>aCa	p.R305T	PRKCQ_ENST00000539722.1_Missense_Mutation_p.R180T|PRKCQ_ENST00000397176.2_Missense_Mutation_p.R305T	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	305					axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						TTCAGTATCTCTTAAGCAGCG	0.507000													34	81					0	0	1	0	0
C9orf3	84909	broad.mit.edu	37	9	97823003	97823003	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:97823003C>T	ENST00000375315.2	+	13	2143	c.2143C>T	c.(2143-2145)Ctg>Ttg	p.L715L	C9orf3_ENST00000297979.5_Silent_p.L616L|C9orf3_ENST00000425634.2_Silent_p.L77L|C9orf3_ENST00000433691.2_Silent_p.L56L	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	715					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		GGTCTTGCTTCTGGAGCATCT	0.488000													23	77					0	0	1	0	0
ACTN3	89	broad.mit.edu	37	11	66326809	66326809	+	RNA	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:66326809C>T	ENST00000504911.1	-	0	220				ACTN3_ENST00000513398.1_RNA|ACTN3_ENST00000502692.1_RNA																							GACCTGGCGGCGCACCAGGAC	0.721000													4	24					0	0	1	0	0
PPP5C	5536	broad.mit.edu	37	19	46857086	46857086	+	Missense_Mutation	SNP	G	G	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:46857086G>T	ENST00000012443.4	+	2	306	c.203G>T	c.(202-204)cGc>cTc	p.R68L	PPP5C_ENST00000391919.1_5'UTR	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	68					mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent	Golgi apparatus|nucleus	metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity			endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		TATGGCAACCGCAGCCTGGCC	0.572000													5	15					0.014758	0.0148765	1	1	0
CACNA1I	8911	broad.mit.edu	37	22	40037145	40037145	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr22:40037145C>G	ENST00000336649.4	+	8	1014	c.1014C>G	c.(1012-1014)atC>atG	p.I338M	CACNA1I_ENST00000402142.3_Missense_Mutation_p.I338M|CACNA1I_ENST00000404898.1_Missense_Mutation_p.I338M|CACNA1I_ENST00000401624.1_Missense_Mutation_p.I338M|CACNA1I_ENST00000407673.1_Missense_Mutation_p.I338M|CACNA1I_ENST00000400164.3_Missense_Mutation_p.I338M			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	338					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	AGGGTGCCATCAACTTTGACA	0.602000													14	68					0	0	1	0	0
DCLRE1C	64421	broad.mit.edu	37	10	14950616	14950616	+	Missense_Mutation	SNP	G	G	C	rs11259389		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:14950616G>C	ENST00000453695.2	-	14	1954	c.1510C>G	c.(1510-1512)Cta>Gta	p.L504V	DCLRE1C_ENST00000378246.2_Missense_Mutation_p.L509V|DCLRE1C_ENST00000378278.2_Missense_Mutation_p.L624V|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.L509V|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.L504V|DCLRE1C_ENST00000378289.4_Intron|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.L504V|DCLRE1C_ENST00000378242.1_Missense_Mutation_p.L277V|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.L504V|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.L504V|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.L509V	NM_001033855.1	NP_001029027.1	Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	624					DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						TCACTGCTTAGAGTAGTTGGT	0.388000								Non-homologous end-joining					43	167					0	0	1	0	0
PTPRG	5793	broad.mit.edu	37	3	62063842	62063842	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:62063842G>A	ENST00000474889.1	+	5	902	c.525G>A	c.(523-525)caG>caA	p.Q175Q	PTPRG_ENST00000295874.10_Silent_p.Q175Q	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	175	Alpha-carbonic anhydrase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		TACAGATGCAGATTTTCTTTT	0.308000													13	55					0	0	1	0	0
SLC10A2	6555	broad.mit.edu	37	13	103710723	103710723	+	Missense_Mutation	SNP	C	C	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr13:103710723C>A	ENST00000245312.3	-	2	983	c.387G>T	c.(385-387)atG>atT	p.M129I		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	129					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AGCATGTGGTCATGCTGACGC	0.433000													10	25					1.76689e-08	1.83149e-08	1	1	0
PLEKHS1	79949	broad.mit.edu	37	10	115540397	115540397	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:115540397G>A	ENST00000354462.3	+	6	612	c.454G>A	c.(454-456)Gag>Aag	p.E152K	PLEKHS1_ENST00000361048.1_3'UTR|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.E320K|PLEKHS1_ENST00000369309.1_Missense_Mutation_p.E236K					pleckstrin homology domain containing, family S member 1																		CCCAAATTCAGAGACATTCCA	0.418000													17	60					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55540613	55540613	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr8:55540613C>G	ENST00000220676.1	+	4	4319	c.4171C>G	c.(4171-4173)Caa>Gaa	p.Q1391E		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1391					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GGTGTCACATCAAAATGTCAG	0.323000													23	72					0	0	1	0	0
KIAA1407	57577	broad.mit.edu	37	3	113729643	113729643	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:113729643C>T	ENST00000295878.3	-	9	1535	c.1389G>A	c.(1387-1389)gtG>gtA	p.V463V	KIAA1407_ENST00000545063.1_Silent_p.V294V	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	463										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						CTGGTGGACCCACCATGGCTG	0.473000													34	164					0	0	1	0	0
PSIP1	11168	broad.mit.edu	37	9	15468978	15468978	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:15468978C>T	ENST00000380733.4	-	13	1526	c.1183G>A	c.(1183-1185)Gag>Aag	p.E395K	PSIP1_ENST00000380738.4_Missense_Mutation_p.E395K			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	395					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		GTAATCATCTCTGTGTGTTTC	0.328000													9	35					0	0	1	0	0
EXOSC10	5394	broad.mit.edu	37	1	11133993	11133993	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:11133993C>G	ENST00000376936.4	-	19	2204	c.2155G>C	c.(2155-2157)Gaa>Caa	p.E719Q	EXOSC10_ENST00000304457.7_Intron|EXOSC10_ENST00000544779.1_3'UTR	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	719					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		CCACTTACTTCATAGATTTTG	0.458000													12	29					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73718100	73718100	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:73718100C>T	ENST00000264448.6	+	10	9122	c.9011C>T	c.(9010-9012)tCa>tTa	p.S3004L	ALMS1_ENST00000409009.1_Missense_Mutation_p.S2962L	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3004					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AAGCCTAAATCACACATTTCT	0.408000													38	103					0	0	1	0	0
STAT4	6775	broad.mit.edu	37	2	191898712	191898712	+	Missense_Mutation	SNP	G	G	A	rs144091208		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:191898712G>A	ENST00000392320.2	-	19	1954	c.1640C>T	c.(1639-1641)tCa>tTa	p.S547L	STAT4_ENST00000358470.4_Missense_Mutation_p.S547L	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	547					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.S547L(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			AAAGGTAAATGATTTACCAGG	0.294000													48	139					0	0	1	0	0
ST6GALNAC1	55808	broad.mit.edu	37	17	74625778	74625778	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:74625778C>T	ENST00000156626.7	-	2	346	c.147G>A	c.(145-147)gaG>gaA	p.E49E	ST6GALNAC1_ENST00000590878.1_5'UTR	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	49					protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						CTTTAATGTTCTCTGTGCGTT	0.448000													24	91					0	0	1	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30878975	30878975	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:30878975C>T	ENST00000251071.5	-	9	2580	c.1830G>A	c.(1828-1830)ccG>ccA	p.P610P	CAPRIN2_ENST00000395805.2_Silent_p.P610P|CAPRIN2_ENST00000417045.1_Silent_p.P610P|CAPRIN2_ENST00000308433.5_Silent_p.P277P|CAPRIN2_ENST00000298892.5_Silent_p.P610P	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	610					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CTGGATCCTTCGGAAGGGTAG	0.393000													17	77					0	0	1	0	0
TMEM246	84302	broad.mit.edu	37	9	104238789	104238789	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:104238789C>G	ENST00000374851.1	-	4	1733	c.586G>C	c.(586-588)Gag>Cag	p.E196Q	TMEM246_ENST00000374848.3_Missense_Mutation_p.E196Q|RP11-490D19.6_ENST00000424154.1_RNA|RP11-490D19.6_ENST00000425734.1_RNA|RP11-490D19.6_ENST00000450109.1_RNA|TMEM246_ENST00000374847.1_Missense_Mutation_p.E196Q|RP11-490D19.6_ENST00000431507.1_RNA			Q9BRR3	CI125_HUMAN	transmembrane protein 246	196						integral to membrane											AGGGATGACTCCAGGCAATAG	0.517000													12	43					0	0	1	0	0
TAS2R10	50839	broad.mit.edu	37	12	10978173	10978173	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:10978173G>A	ENST00000240619.2	-	1	784	c.696C>T	c.(694-696)ttC>ttT	p.F232F		NM_023921.1	NP_076410.1	Q9NYW0	T2R10_HUMAN	taste receptor, type 2, member 10	232					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						AGAGGATGATGAAAGATATCA	0.393000													32	117					0	0	1	0	0
MACROD2	140733	broad.mit.edu	37	20	15967446	15967446	+	Splice_Site	SNP	G	G	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:15967446G>T	ENST00000217246.4	+	14	1455	c.1060_splice	c.e14+1	p.E354_splice	MACROD2_ENST00000378058.3_Splice_Site_p.E119_splice|MACROD2_ENST00000407045.3_Splice_Site_p.E5_splice|MACROD2_ENST00000310348.4_Splice_Site_p.E354_splice|MACROD2_ENST00000402914.1_Splice_Site_p.E119_splice	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	354	Glu-rich.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				GGAAACAGAAGGTACTGAAAC	0.338000													12	37					6.40141e-05	6.49751e-05	1	1	0
MUC16	94025	broad.mit.edu	37	19	9086117	9086117	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:9086117C>T	ENST00000397910.4	-	1	5901	c.5698G>A	c.(5698-5700)Gag>Aag	p.E1900K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1900	Ser-rich.|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						TCACTCTTCTCTGTGTAAGTC	0.498000													17	46					0	0	1	0	0
SLCO4A1	28231	broad.mit.edu	37	20	61299845	61299845	+	Nonsense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:61299845C>T	ENST00000217159.1	+	10	2033	c.1828C>T	c.(1828-1830)Cag>Tag	p.Q610*	SLCO4A1_ENST00000370507.1_Nonsense_Mutation_p.Q610*|SLCO4A1_ENST00000470412.1_3'UTR	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	610					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			CCGTGACCCTCAGAGATCCTT	0.542000											OREG0026115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	96					0	0	1	0	0
ESF1	51575	broad.mit.edu	37	20	13740396	13740396	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:13740396C>G	ENST00000202816.1	-	9	1878	c.1771G>C	c.(1771-1773)Gaa>Caa	p.E591Q		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	591	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						TTTTCTTTTTCTTGAATAACC	0.328000													18	61					0	0	1	0	0
AP1AR	55435	broad.mit.edu	37	4	113189560	113189560	+	Nonsense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:113189560C>T	ENST00000274000.5	+	10	1259	c.904C>T	c.(904-906)Cga>Tga	p.R302*	AP1AR_ENST00000309703.6_Nonsense_Mutation_p.R269*	NM_018569.4	NP_061039.3	Q63HQ0	AP1AR_HUMAN	adaptor-related protein complex 1 associated regulatory protein	302					protein transport	early endosome|Golgi apparatus|late endosome|transport vesicle				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	9						TCAACAGACTCGATAGGGTAA	0.358000													17	67					0	0	1	0	0
CEP192	55125	broad.mit.edu	37	18	13068894	13068894	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr18:13068894C>T	ENST00000506447.1	+	25	4946	c.4866C>T	c.(4864-4866)atC>atT	p.I1622I	CEP192_ENST00000430049.2_Silent_p.I1147I|CEP192_ENST00000325971.8_Silent_p.I1026I	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1217										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AAGTTGATATCGAAGTTGACA	0.433000													38	115					0	0	1	0	0
TNFSF4	7292	broad.mit.edu	37	1	173155697	173155697	+	Silent	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:173155697C>G	ENST00000281834.3	-	3	646	c.510G>C	c.(508-510)ctG>ctC	p.L170L	TNFSF4_ENST00000367718.1_Silent_p.L120L	NM_003326.3	NP_003317.1	P23510	TNFL4_HUMAN	tumor necrosis factor (ligand) superfamily, member 4	170					acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T-helper 1 cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of alpha-beta T cell proliferation|positive regulation of B cell activation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction|T-helper 2 cell activation	cell surface|extracellular space|integral to plasma membrane	cytokine activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	12						GGATAAGAATCAGTTCTCCGC	0.473000													13	68					0	0	1	0	0
TLR1	7096	broad.mit.edu	37	4	38800263	38800263	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:38800263C>T	ENST00000308979.2	-	4	463	c.190G>A	c.(190-192)Gac>Aac	p.D64N	TLR1_ENST00000502213.2_Missense_Mutation_p.D64N	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN	toll-like receptor 1	64					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						GATAAGATGTCAGAAGTCCAA	0.328000													42	207					0	0	1	0	0
PLK3	1263	broad.mit.edu	37	1	45266614	45266614	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:45266614G>C	ENST00000372201.4	+	2	552	c.313G>C	c.(313-315)Gag>Cag	p.E105Q	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	105	Protein kinase.					membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					GCATCAGCGCGAGAAGGTGGG	0.662000													7	31					0	0	1	0	0
MIOX	55586	broad.mit.edu	37	22	50928244	50928244	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr22:50928244G>A	ENST00000395732.3	+	10	825	c.803G>A	c.(802-804)gGg>gAg	p.G268E	MIOX_ENST00000216075.6_Missense_Mutation_p.G273R|MIOX_ENST00000395733.3_Missense_Mutation_p.G229E			Q9UGB7	MIOX_HUMAN	myo-inositol oxygenase	0					inositol catabolic process	cytoplasm|inclusion body	aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	13		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTACTACCAGGGGCTCATTGA	0.657000													17	63					0	0	1	0	0
ARHGEF7	8874	broad.mit.edu	37	13	111870185	111870185	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr13:111870185G>A	ENST00000375741.2	+	6	941	c.691G>A	c.(691-693)Ggc>Agc	p.G231S	ARHGEF7_ENST00000370623.3_Missense_Mutation_p.G138S|ARHGEF7_ENST00000544132.1_5'UTR|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.G53S|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.G53S|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.G128S|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.G181S|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.G53S|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.G53S|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.G210S	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	231	SH3.				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)			CGGCCGGACCGGCTGGTTCCC	0.582000													14	39					0	0	1	0	0
FLT3	2322	broad.mit.edu	37	13	28601325	28601325	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr13:28601325G>A	ENST00000380982.4	-	17	2188	c.2107C>T	c.(2107-2109)Cta>Tta	p.L703L	FLT3_ENST00000241453.7_Silent_p.L703L|FLT3_ENST00000537084.1_Silent_p.L703L			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	703	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	TTACTTCTTAGATAGTTGAGA	0.338000			"""Mis, O"""		"""AML, ALL"""								37	56					0	0	1	0	0
ATP2B1	490	broad.mit.edu	37	12	90010788	90010788	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:90010788C>T	ENST00000428670.3	-	12	2314	c.1858G>A	c.(1858-1860)Gag>Aag	p.E620K	ATP2B1_ENST00000348959.3_Missense_Mutation_p.E620K|ATP2B1_ENST00000359142.3_Missense_Mutation_p.E620K|ATP2B1_ENST00000261173.2_Missense_Mutation_p.E620K|ATP2B1_ENST00000393164.2_Missense_Mutation_p.E363K			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	620					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						ACTTTTGCCTCACCATTAGCA	0.358000													21	87					0	0	1	0	0
RPN2	6185	broad.mit.edu	37	20	35857006	35857006	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:35857006C>T	ENST00000237530.6	+	12	1664	c.1353C>T	c.(1351-1353)gcC>gcT	p.A451A	RPN2_ENST00000373622.5_Silent_p.A419A	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	451					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				TGTTTGTTGCCGAGCCAGACA	0.408000													27	84					0	0	1	0	0
ARHGEF19	128272	broad.mit.edu	37	1	16534240	16534240	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:16534240C>G	ENST00000270747.3	-	4	863	c.727G>C	c.(727-729)Gag>Cag	p.E243Q	ARHGEF19_ENST00000421561.1_Missense_Mutation_p.E243Q	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	243					regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		CCGCTCATCTCTACACTTCGA	0.677000													11	55					0	0	1	0	0
APCS	325	broad.mit.edu	37	1	159558079	159558079	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:159558079G>C	ENST00000255040.2	+	2	350	c.253G>C	c.(253-255)Gaa>Caa	p.E85Q		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	85	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					AGTTTATAAAGAAAGAGTTGG	0.433000													28	85					0	0	1	0	0
GRIPAP1	56850	broad.mit.edu	37	X	48846043	48846043	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:48846043C>T	ENST00000376423.4	-	10	723	c.691G>A	c.(691-693)Gaa>Aaa	p.E231K	GRIPAP1_ENST00000376441.1_Missense_Mutation_p.E284K|GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376444.3_Missense_Mutation_p.E239K|GRIPAP1_ENST00000376425.3_Missense_Mutation_p.E284K	NM_207672.1	NP_997555.1	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	284						early endosome				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						GCCTCAAGTTCCTGCTGCAGC	0.572000													21	21					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9071607	9071607	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:9071607G>A	ENST00000397910.4	-	3	16042	c.15839C>T	c.(15838-15840)tCg>tTg	p.S5280L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5282	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						GGTACTGTGCGATGCAGACTC	0.512000													44	48					0	0	1	0	0
SUV39H2	79723	broad.mit.edu	37	10	14923523	14923523	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:14923523C>T	ENST00000378325.3	+	2	82	c.56C>T	c.(55-57)tCa>tTa	p.S19L	SUV39H2_ENST00000313519.5_Intron|SUV39H2_ENST00000354919.6_Missense_Mutation_p.S19L	NM_001193426.1|NM_001193427.1	NP_001180355.1|NP_001180356.1	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2 (Drosophila)	19					cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|chromosome, centromeric region|nucleus	histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						TGCCTAGTTTCACTTGATACT	0.313000													17	51					0	0	1	0	0
UNC13D	201294	broad.mit.edu	37	17	73831952	73831952	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:73831952C>T	ENST00000207549.4	-	18	1959	c.1580G>A	c.(1579-1581)cGg>cAg	p.R527Q	UNC13D_ENST00000412096.2_Missense_Mutation_p.R527Q	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	527	Interaction with RAB27A.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTGCAGCTCCCGGAAAGCCAT	0.622000									Familial Hemophagocytic Lymphohistiocytosis				29	124					0	0	1	0	0
COQ9	57017	broad.mit.edu	37	16	57485028	57485028	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:57485028G>C	ENST00000262507.6	+	2	219	c.150G>C	c.(148-150)caG>caC	p.Q50H	COQ9_ENST00000567384.1_3'UTR|COQ9_ENST00000567933.1_Missense_Mutation_p.Q50H|COQ9_ENST00000567072.1_Missense_Mutation_p.Q50H	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN	coenzyme Q9	50					ubiquinone biosynthetic process	mitochondrion				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						CAGATGAGCAGAAGCAGCAGC	0.557000													16	35					0	0	1	0	0
LRRC8C	84230	broad.mit.edu	37	1	90178613	90178613	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:90178613C>T	ENST00000370454.4	+	3	739	c.484C>T	c.(484-486)Ctg>Ttg	p.L162L	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	162						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		CATCTCCATTCTGGGGAAGTG	0.448000													25	102					0	0	1	0	0
TRMT10A	93587	broad.mit.edu	37	4	100479319	100479319	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:100479319G>A	ENST00000273962.3	-	3	547	c.235C>T	c.(235-237)Caa>Taa	p.Q79*	TRMT10A_ENST00000394876.2_Nonsense_Mutation_p.Q79*|TRMT10A_ENST00000394877.3_Nonsense_Mutation_p.Q79*	NM_152292.4	NP_689505.1			tRNA methyltransferase 10 homolog A (S. cerevisiae)																		GGTTCCATTTGACATTGTCGC	0.328000													28	111					0	0	1	0	0
FGL2	10875	broad.mit.edu	37	7	76825626	76825626	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:76825626C>T	ENST00000248598.5	-	2	1322	c.1290G>A	c.(1288-1290)atG>atA	p.M430I	CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000285871.4_Intron|RP11-467H10.2_ENST00000459742.1_RNA	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	430	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						GTCTGATCATCATCTTAGCCT	0.443000													6	24					0	0	1	0	0
KIAA0355	9710	broad.mit.edu	37	19	34791776	34791776	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:34791776C>T	ENST00000299505.6	+	2	1271	c.398C>T	c.(397-399)tCg>tTg	p.S133L		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	133										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					CGGCTGACCTCGGCCATAAAG	0.502000													15	45					0	0	1	0	0
LMO3	55885	broad.mit.edu	37	12	16757906	16757906	+	Translation_Start_Site	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:16757906G>C	ENST00000320122.6	-	0	407				LMO3_ENST00000535535.1_Intron|LMO3_ENST00000534946.1_Intron|LMO3_ENST00000261169.6_De_novo_Start_OutOfFrame|LMO3_ENST00000537568.1_Intron|LMO3_ENST00000354662.1_Intron|LMO3_ENST00000537304.1_Intron|LMO3_ENST00000541846.1_Intron|LMO3_ENST00000447609.1_Intron|LMO3_ENST00000541295.1_Intron|LMO3_ENST00000540848.1_Intron|LMO3_ENST00000540445.1_Intron|LMO3_ENST00000441439.2_Intron	NM_001243611.1	NP_001230540.1	Q8TAP4	LMO3_HUMAN	LIM domain only 3 (rhombotin-like 2)						regulation of transcription, DNA-dependent|transcription, DNA-dependent		zinc ion binding			endometrium(2)|large_intestine(2)|skin(1)	5		Hepatocellular(102;0.244)				GGGTCTCCTTGATTTCGCTTA	0.557000													19	38					0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140810661	140810661	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:140810661C>T	ENST00000509479.2	-	2	2785	c.1929G>A	c.(1927-1929)caG>caA	p.Q643Q	MAML3_ENST00000398940.1_Silent_p.Q171Q|MAML3_ENST00000327122.5_Silent_p.Q487Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	639	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgttgctgtt	0.587000													5	94					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57325390	57325390	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:57325390C>T	ENST00000326441.9	-	10	4783	c.4420G>A	c.(4420-4422)Gag>Aag	p.E1474K	ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.E1348K|PEG3_ENST00000423103.2_Missense_Mutation_p.E1474K|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.E1350K	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1474	Glu-rich.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CCCTCTGGCTCTTCAGCTTTT	0.517000													34	108					0	0	1	0	0
EIF4G2	1982	broad.mit.edu	37	11	10825928	10825928	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:10825928G>A	ENST00000526148.1	-	6	899	c.389C>T	c.(388-390)tCa>tTa	p.S130L	EIF4G2_ENST00000396525.2_Missense_Mutation_p.S130L|EIF4G2_ENST00000525681.1_Missense_Mutation_p.S130L|EIF4G2_ENST00000339995.5_Missense_Mutation_p.S130L	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	130	MIF4G.				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		AGCATACAGTGAGCTATACTT	0.443000													32	123					0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57641576	57641576	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:57641576G>A	ENST00000254181.4	+	4	1987	c.1533G>A	c.(1531-1533)ctG>ctA	p.L511L	USP29_ENST00000598197.1_Silent_p.L511L	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	511					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCATTCATCTGAAACGCTATA	0.373000													33	123					0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1806119	1806119	+	Missense_Mutation	SNP	G	G	A	rs28931614		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:1806119G>A	ENST00000340107.4	+	9	1400	c.1144G>A	c.(1144-1146)Ggg>Agg	p.G382R	FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000352904.1_Intron|FGFR3_ENST00000440486.2_Missense_Mutation_p.G380R|FGFR3_ENST00000481110.2_Missense_Mutation_p.G380R|FGFR3_ENST00000260795.2_Missense_Mutation_p.G380R	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	380					bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.G380R(13)|p.G382R(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	CCTCAGCTACGGGGTGGGCTT	0.672000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				43	163					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41160462	41160462	+	Missense_Mutation	SNP	G	G	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:41160462G>T	ENST00000263413.3	-	11	1730	c.1466C>A	c.(1465-1467)cCc>cAc	p.P489H	C6_ENST00000337836.5_Missense_Mutation_p.P489H|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	489	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GTCCACGATGGGGGCAAGCTA	0.502000													12	55					0.000151284	0.000153202	1	1	0
OR52K1	390036	broad.mit.edu	37	11	4510412	4510412	+	Silent	SNP	C	C	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:4510412C>A	ENST00000307632.3	+	1	304	c.282C>A	c.(280-282)atC>atA	p.I94I		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		ATCAGGAGATCAACTTCTTTG	0.498000													17	58					2.39187e-15	2.54843e-15	1	1	0
ACLY	47	broad.mit.edu	37	17	40052893	40052893	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:40052893G>C	ENST00000352035.2	-	14	1569	c.1439C>G	c.(1438-1440)cCa>cGa	p.P480R	ACLY_ENST00000537919.1_Intron|ACLY_ENST00000393896.2_Intron|ACLY_ENST00000353196.1_Intron|ACLY_ENST00000590151.1_Missense_Mutation_p.P480R	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	480					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				TCTTGGACTTGGGACTGAATC	0.567000													20	64					0	0	1	0	0
VWCE	220001	broad.mit.edu	37	11	61058327	61058327	+	Missense_Mutation	SNP	C	C	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:61058327C>A	ENST00000335613.5	-	4	754	c.368G>T	c.(367-369)cGa>cTa	p.R123L		NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	123						extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GGGGCACACTCGGGCCACCTC	0.622000													11	31					0.38729	0.389061	1	1	0
ATP6V0A2	23545	broad.mit.edu	37	12	124242530	124242530	+	Nonsense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:124242530C>G	ENST00000330342.3	+	20	2770	c.2522C>G	c.(2521-2523)tCa>tGa	p.S841*	ATP6V0A2_ENST00000543687.1_3'UTR|ATP6V0A2_ENST00000544833.1_Nonsense_Mutation_p.S123*	NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	841					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		GTTCCTTTCTCATTCAGTCTA	0.348000													13	62					0	0	1	0	0
LRRC49	54839	broad.mit.edu	37	15	71211413	71211413	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:71211413C>T	ENST00000260382.5	+	7	852	c.592C>T	c.(592-594)Cat>Tat	p.H198Y	LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560691.1_5'UTR|LRRC49_ENST00000544974.2_Missense_Mutation_p.H188Y|LRRC49_ENST00000560369.1_Missense_Mutation_p.H203Y|LRRC49_ENST00000443425.2_Missense_Mutation_p.H154Y	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	198						cytoplasm|microtubule		p.H198Y(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						AAATATTAATCATTTGTGTGA	0.313000													34	101					0	0	1	0	0
ZEB1	6935	broad.mit.edu	37	10	31810616	31810616	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:31810616G>A	ENST00000446923.2	+	7	2696	c.2305G>A	c.(2305-2307)Gac>Aac	p.D769N	ZEB1_ENST00000560721.2_Missense_Mutation_p.D765N|ZEB1_ENST00000361642.5_Missense_Mutation_p.D786N|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000320985.10_Missense_Mutation_p.D785N|ZEB1_ENST00000542815.3_Missense_Mutation_p.D718N	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	785					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.D785N(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TTGTGTTACAGACTCAGAACC	0.443000													37	100					0	0	1	0	0
PHF21A	51317	broad.mit.edu	37	11	45958121	45958121	+	Splice_Site	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:45958121C>G	ENST00000257821.4	-	16	2232		c.e16-1		PHF21A_ENST00000323180.6_Splice_Site|PHF21A_ENST00000418153.2_Splice_Site	NM_001101802.1	NP_001095272.1	Q96BD5	PF21A_HUMAN	PHD finger protein 21A						blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						TCTTCAGCATCTGAAAAGATT	0.393000													17	65					0	0	1	0	0
PPIP5K2	23262	broad.mit.edu	37	5	102472513	102472513	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:102472513C>T	ENST00000321521.9	+	4	961	c.388C>T	c.(388-390)Ctc>Ttc	p.L130F	PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.L130F|PPIP5K2_ENST00000358359.3_Missense_Mutation_p.L130F			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	130					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TATGCAGTATCTCATACAAGA	0.363000													34	180					0	0	1	0	0
CREM	1390	broad.mit.edu	37	10	35484998	35484998	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:35484998G>C	ENST00000474931.1	+	1	169	c.8G>C	c.(7-9)aGa>aCa	p.R3T	CREM_ENST00000374728.3_Intron|CREM_ENST00000345491.3_Intron|CREM_ENST00000374734.3_Intron|CREM_ENST00000361599.4_Intron|CREM_ENST00000356917.5_Intron|CREM_ENST00000488741.1_5'UTR|CREM_ENST00000344351.5_5'UTR|CREM_ENST00000488328.1_Intron|CREM_ENST00000342105.3_Intron|CREM_ENST00000487763.1_Intron|CREM_ENST00000337656.4_Intron|CREM_ENST00000333809.8_Intron|CREM_ENST00000484283.1_Intron|CREM_ENST00000479070.1_Intron|CREM_ENST00000473940.1_Intron|CREM_ENST00000490511.1_Missense_Mutation_p.R3T|CREM_ENST00000474362.1_Intron|CREM_ENST00000468236.1_Missense_Mutation_p.R3T|CREM_ENST00000463960.1_Intron|CREM_ENST00000463314.1_Intron|CREM_ENST00000460270.1_Intron|CREM_ENST00000354759.3_Intron|CREM_ENST00000439705.1_Intron|CREM_ENST00000429130.3_Intron|CREM_ENST00000348787.2_Intron|CREM_ENST00000395887.3_Intron|CREM_ENST00000374721.3_Intron|CREM_ENST00000395895.2_Intron			Q03060	CREM_HUMAN	cAMP responsive element modulator	0					cell differentiation|multicellular organismal development|signal transduction|spermatogenesis	nucleus	cAMP response element binding protein binding|protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14						TGCATGAACAGAACTCAGGAG	0.443000											OREG0020123	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	37					0	0	1	0	0
LRRC8C	84230	broad.mit.edu	37	1	90178346	90178346	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:90178346C>G	ENST00000370454.4	+	3	472	c.217C>G	c.(217-219)Caa>Gaa	p.Q73E	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	73						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		GAATGTCTCTCAAGCAGTTGC	0.463000													15	66					0	0	1	0	0
SESN1	27244	broad.mit.edu	37	6	109415189	109415189	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:109415189G>C	ENST00000436639.2	-	1	833	c.88C>G	c.(88-90)Caa>Gaa	p.Q30E		NM_014454.2	NP_055269.1	Q9Y6P5	SESN1_HUMAN	sestrin 1	86					cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		AAAATGGTTTGCCTAATGTTT	0.443000													31	125					0	0	1	0	0
PDCD10	11235	broad.mit.edu	37	3	167413412	167413412	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:167413412C>T	ENST00000392750.2	-	6	784	c.367G>A	c.(367-369)Gac>Aac	p.D123N	PDCD10_ENST00000471885.1_Missense_Mutation_p.D123N|PDCD10_ENST00000497056.2_Missense_Mutation_p.D123N|PDCD10_ENST00000470131.1_Missense_Mutation_p.D123N|PDCD10_ENST00000473645.2_Missense_Mutation_p.D123N|PDCD10_ENST00000487947.2_Missense_Mutation_p.D123N|PDCD10_ENST00000492396.1_Missense_Mutation_p.D60N|PDCD10_ENST00000461494.1_Missense_Mutation_p.D123N	NM_007217.3	NP_009148.2	Q9BUL8	PDC10_HUMAN	programmed cell death 10	123					angiogenesis|apoptosis|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of MAP kinase activity	cytosol|Golgi membrane|plasma membrane	protein homodimerization activity|protein N-terminus binding			central_nervous_system(1)|kidney(1)|lung(8)|urinary_tract(2)	12						CTCACTCTGTCATTGATCTCA	0.363000													34	158					0	0	1	0	0
HIF3A	64344	broad.mit.edu	37	19	46811510	46811510	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:46811510C>T	ENST00000339613.2	+	4	483	c.228C>T	c.(226-228)ttC>ttT	p.F76F	HIF3A_ENST00000600383.1_Silent_p.F63F|HIF3A_ENST00000525854.1_3'UTR|HIF3A_ENST00000244303.6_Silent_p.F63F|HIF3A_ENST00000472815.1_Silent_p.F63F|HIF3A_ENST00000420102.2_Silent_p.F81F|HIF3A_ENST00000377670.4_Silent_p.F132F|HIF3A_ENST00000300862.3_Silent_p.F130F			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	132					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		TCTTTGATTTCATCCACCCCT	0.587000													38	110					0	0	1	0	0
ERVW-1	30816	broad.mit.edu	37	7	92099476	92099476	+	Missense_Mutation	SNP	G	G	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:92099476G>T	ENST00000493463.2	-	1	1143	c.220C>A	c.(220-222)Cac>Aac	p.H74N	AC007566.10_ENST00000427458.1_RNA|ERVW-1_ENST00000604270.1_Intron|ERVW-1_ENST00000603053.1_Missense_Mutation_p.H74N	NM_014590.3	NP_055405.3	Q9UQF0	ENW1_HUMAN		74					syncytium formation	integral to membrane|plasma membrane|virion				endometrium(1)|large_intestine(1)|lung(15)	17						gtggcagagtgatagcagttg	0.483000													29	74					1.62565e-12	1.71955e-12	1	1	0
CLPTM1	1209	broad.mit.edu	37	19	45491406	45491406	+	Silent	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:45491406C>G	ENST00000541297.2	+	9	1530	c.1065C>G	c.(1063-1065)gtC>gtG	p.V355V	CLPTM1_ENST00000337392.5_Silent_p.V369V|CLPTM1_ENST00000546079.1_Silent_p.V267V			O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	369					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		TTCACAGTGTCTTCGAGTTCC	0.612000													22	93					0	0	1	0	0
SNX33	257364	broad.mit.edu	37	15	75941771	75941771	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:75941771G>C	ENST00000308527.5	+	1	1525	c.328G>C	c.(328-330)Gag>Cag	p.E110Q		NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	110					cell communication		phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						GGGTAGCTTTGAGGAGGATGA	0.632000													17	52					0	0	1	0	0
GPR139	124274	broad.mit.edu	37	16	20043513	20043513	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:20043513C>T	ENST00000570682.1	-	2	906	c.606G>A	c.(604-606)ttG>ttA	p.L202L		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	202						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TGATTGAGTTCAAGATGAAGA	0.512000													19	44					0	0	1	0	0
GPX1	2876	broad.mit.edu	37	3	49395180	49395180	+	Splice_Site	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:49395180C>G	ENST00000419783.1	-	2	574	c.252_splice	c.e2-1	p.E85_splice	GPX1_ENST00000419349.1_3'UTR|GPX1_ENST00000496791.1_5'UTR	NM_000581.2	NP_000572.2	P07203	GPX1_HUMAN	glutathione peroxidase 1	85					anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection	cytosol|mitochondrion	endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding			breast(1)|large_intestine(2)|lung(1)	4				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Glutathione(DB00143)	TTGGCGTTCTCCTACAGGAGA	0.517000													5	63					0	0	1	0	0
DTX3	196403	broad.mit.edu	37	12	58002908	58002908	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:58002908G>A	ENST00000548198.1	+	5	2521	c.1017G>A	c.(1015-1017)ctG>ctA	p.L339L	DTX3_ENST00000337737.3_Silent_p.L339L|DTX3_ENST00000548804.1_Silent_p.L339L|DTX3_ENST00000551632.1_Silent_p.L342L			Q8N9I9	DTX3_HUMAN	deltex homolog 3 (Drosophila)	339					Notch signaling pathway	cytoplasm	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					AAGAGGAGCTGAGAGCGAAGG	0.547000													8	51					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(545)|p.E542Q(10)		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)			TCCTCTCTCTGAAATCACTGA	0.333000	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			30	66					0	0	1	0	0
ARSE	415	broad.mit.edu	37	X	2873522	2873522	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:2873522G>A	ENST00000545496.1	-	5	608	c.317C>T	c.(316-318)tCt>tTt	p.S106F	ARSE_ENST00000381134.3_Missense_Mutation_p.S81F|ARSE_ENST00000540563.1_Missense_Mutation_p.S36F			P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	81					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGATGCGGCAGAGATGTGTTG	0.517000													15	23					0	0	1	0	0
ALG14	199857	broad.mit.edu	37	1	95538323	95538323	+	Silent	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:95538323C>G	ENST00000370205.4	-	1	178	c.132G>C	c.(130-132)ggG>ggC	p.G44G	ALG14_ENST00000495856.1_5'UTR	NM_144988.3	NP_659425.1	Q96F25	ALG14_HUMAN	ALG14, UDP-N-acetylglucosaminyltransferase subunit	44					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	6		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.0615)|Epithelial(280;0.139)		ACTTACCGGACCCAGCCACTA	0.562000													30	102					0	0	1	0	0
NPHP3	27031	broad.mit.edu	37	3	132433961	132433961	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:132433961C>T	ENST00000326682.8	-	5	1001	c.925G>A	c.(925-927)Gaa>Aaa	p.E309K	NPHP3_ENST00000476742.1_5'UTR|NPHP3_ENST00000337331.5_Missense_Mutation_p.E309K			Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	309					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGCTGGGTTTCATCTGTATAA	0.328000													44	188					0	0	1	0	0
IRS4	8471	broad.mit.edu	37	X	107977794	107977794	+	Nonsense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:107977794G>C	ENST00000372129.2	-	1	1857	c.1781C>G	c.(1780-1782)tCa>tGa	p.S594*		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	594						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CCCACTTCCTGAGCCTTTGCC	0.537000													66	91					0	0	1	0	0
PCDHGA12	26025	broad.mit.edu	37	5	140810366	140810366	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:140810366G>C	ENST00000252085.3	+	1	182	c.40G>C	c.(40-42)Gtc>Ctc	p.V14L	PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAAGGGCTTGTCCTGCTGGG	0.527000													39	93					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	76					0	0	1	0	0
RALBP1	10928	broad.mit.edu	37	18	9522465	9522465	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr18:9522465G>C	ENST00000019317.4	+	4	1234	c.1011G>C	c.(1009-1011)atG>atC	p.M337I	RALBP1_ENST00000383432.3_Missense_Mutation_p.M337I			Q15311	RBP1_HUMAN	ralA binding protein 1	337	Rho-GAP.				chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14						AAACAAAAATGAATATACAGA	0.418000													23	61					0	0	1	0	0
USP40	55230	broad.mit.edu	37	2	234407258	234407258	+	Splice_Site	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:234407258C>T	ENST00000251722.6	-	23	2765	c.2647_splice	c.e23-1	p.G883_splice	USP40_ENST00000427112.2_Splice_Site_p.G883_splice|USP40_ENST00000450966.1_Splice_Site_p.G895_splice|USP40_ENST00000409945.1_Splice_Site_p.G59_splice			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	883					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.G895V(2)		breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		CCAGGCATCTCCTATAAAGGA	0.373000													6	35					0	0	1	0	0
EHBP1L1	254102	broad.mit.edu	37	11	65350672	65350672	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:65350672G>A	ENST00000309295.4	+	9	2794	c.2529G>A	c.(2527-2529)gaG>gaA	p.E843E		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	843	Glu-rich.									central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GGGCCCAGGAGACAGAGGTCG	0.567000													15	31					0	0	1	0	0
DCX	1641	broad.mit.edu	37	X	110644281	110644281	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:110644281G>C	ENST00000338081.3	-	3	1056	c.885C>G	c.(883-885)atC>atG	p.I295M	DCX_ENST00000356915.2_Missense_Mutation_p.I214M|DCX_ENST00000356220.3_Missense_Mutation_p.I214M|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000488120.1_Missense_Mutation_p.I214M|DCX_ENST00000371993.2_Missense_Mutation_p.I214M	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	295	Doublecortin 2.		I -> T (in SBHX).		axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						TGGCTTCTGTGATATCAGTGA	0.468000													37	54					0	0	1	0	0
RYK	6259	broad.mit.edu	37	3	133894574	133894574	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:133894574G>A	ENST00000427044.2	-	14	1497	c.887C>T	c.(886-888)gCc>gTc	p.A296V	RYK_ENST00000296084.4_Missense_Mutation_p.A486V			P34925	RYK_HUMAN	receptor-like tyrosine kinase	482					corpus callosum development|positive regulation of MAPKKK cascade|Wnt receptor signaling pathway	cytoplasm|integral to plasma membrane|nucleus	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(1)|ovary(3)	4						TCTGGAGAGGGCATTGTCTGT	0.418000													4	120					0	0	1	0	0
SHH	6469	broad.mit.edu	37	7	155604655	155604655	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:155604655C>G	ENST00000297261.2	-	1	312	c.162G>C	c.(160-162)aaG>aaC	p.K54N		NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	sonic hedgehog	54					androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGCCTAGGGTCTTCTCGGCCA	0.552000													54	125					0	0	1	0	0
ACSBG1	23205	broad.mit.edu	37	15	78470989	78470989	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:78470989C>T	ENST00000258873.4	-	11	1874	c.1669G>A	c.(1669-1671)Gat>Aat	p.D557N	ACSBG1_ENST00000541759.1_Missense_Mutation_p.D315N|ACSBG1_ENST00000560817.1_Missense_Mutation_p.D315N	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	557					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						AGGAAGCCATCGGCGTCCAGG	0.612000													7	27					0	0	1	0	0
NLRX1	79671	broad.mit.edu	37	11	119050489	119050489	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:119050489G>A	ENST00000409109.1	+	7	2346	c.1759G>A	c.(1759-1761)Gac>Aac	p.D587N	NLRX1_ENST00000469103.2_3'UTR|NLRX1_ENST00000525863.1_Missense_Mutation_p.D587N|NLRX1_ENST00000409991.1_Missense_Mutation_p.D587N|NLRX1_ENST00000409265.4_Missense_Mutation_p.D587N|NLRX1_ENST00000292199.2_Missense_Mutation_p.D587N			Q86UT6	NLRX1_HUMAN	NLR family member X1	587	Required for the repression of MAVS- induced interferon signaling.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TCGAGAGGAGGACTACTACAA	0.597000													32	76					0	0	1	0	0
CYP4B1	1580	broad.mit.edu	37	1	47283805	47283805	+	Silent	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:47283805C>G	ENST00000271153.4	+	11	1308	c.1272C>G	c.(1270-1272)gtC>gtG	p.V424V	CYP4B1_ENST00000452782.2_Silent_p.V262V|CYP4B1_ENST00000371919.4_Silent_p.V410V|CYP4B1_ENST00000371923.4_Silent_p.V425V			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	424					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					CCCTTCAGGTCTTTGACTCTC	0.572000													19	88					0	0	1	0	0
TCEAL6	158931	broad.mit.edu	37	X	101396021	101396021	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:101396021G>A	ENST00000372774.3	-	3	532	c.283C>T	c.(283-285)Cgg>Tgg	p.R95W	TCEAL6_ENST00000372773.1_Missense_Mutation_p.R95W	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	95					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.R95W(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						TCGGCGGCCCGCGGCTGGCCC	0.612000													41	62					0	0	1	0	0
HNRNPH2	3188	broad.mit.edu	37	X	100668237	100668237	+	Nonsense_Mutation	SNP	G	G	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:100668237G>T	ENST00000316594.5	+	2	1339	c.1261G>T	c.(1261-1263)Gga>Tga	p.G421*		NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4	NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2 (H')	421	2 X 16 AA Gly-rich approximate repeats.				nuclear mRNA splicing, via spliceosome	actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			breast(3)|large_intestine(2)|lung(6)|skin(1)	12						TGGTGGTTATGGAGGTGGTTA	0.493000													103	99					2.70572e-37	2.91105e-37	1	1	0
HOXC6	3223	broad.mit.edu	37	12	54422624	54422624	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:54422624G>A	ENST00000394331.3	+	2	1783	c.73G>A	c.(73-75)Gag>Aag	p.E25K	HOXC4_ENST00000303406.4_Intron|HOXC6_ENST00000243108.4_Missense_Mutation_p.E107K|HOXC5_ENST00000512206.1_Intron	NM_153693.3	NP_710160.1	P09630	HXC6_HUMAN	homeobox C6	107					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TTTTAGTTCTGAGCAGGGCAG	0.478000													35	118					0	0	1	0	0
FAM151A	338094	broad.mit.edu	37	1	55075609	55075609	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:55075609C>G	ENST00000302250.2	-	8	1250	c.1090G>C	c.(1090-1092)Gaa>Caa	p.E364Q	ACOT11_ENST00000371316.3_Intron|ACOT11_ENST00000343744.2_3'UTR|FAM151A_ENST00000371304.2_Intron|ACOT11_ENST00000481208.1_3'UTR	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	364						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						ATCATGCCTTCTGTGTCTGGA	0.522000													14	35					0	0	1	0	0
MMP13	4322	broad.mit.edu	37	11	102826070	102826070	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:102826070C>G	ENST00000260302.3	-	2	301	c.273G>C	c.(271-273)atG>atC	p.M91I	MMP13_ENST00000340273.4_Missense_Mutation_p.M91I	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	91			M -> T (in MANDP1).		collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		TTGGCTTTTTCATGACATCTA	0.433000													49	113					0	0	1	0	0
XXbac-BPG308J9.3	0	broad.mit.edu	37	6	29230615	29230615	+	RNA	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:29230615G>A	ENST00000441381.1	+	0	79																											ATACCACAATGAGATGGGAGA	0.413000													25	95					0	0	1	0	0
CASC5	57082	broad.mit.edu	37	15	40914270	40914270	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:40914270C>G	ENST00000346991.5	+	11	2276	c.1886C>G	c.(1885-1887)tCt>tGt	p.S629C	CASC5_ENST00000527044.1_3'UTR|CASC5_ENST00000399668.2_Missense_Mutation_p.S603C			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	629	Interaction with BUB1 and BUB1B.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	p.S629F(2)|p.S629C(2)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GAATCTCACTCTCAGAGCAAA	0.398000													21	59					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94506902	94506902	+	Missense_Mutation	SNP	G	G	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:94506902G>T	ENST00000370225.3	-	23	3471	c.3385C>A	c.(3385-3387)Cgc>Agc	p.R1129S		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1129	ABC transporter 1.		R -> C (in STGD1; may predispose to develop retinal toxicity after treatment with chloroquine and hydroxychloroquine).|R -> L (in ARMD2, STGD1 and FFM; reduced ATP-binding capacity; dbSNP:rs1801269).		phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		ATGGCAATGCGGTCCCCAAGG	0.582000													11	72					1.08611e-07	1.12184e-07	1	1	0
SLC39A6	25800	broad.mit.edu	37	18	33706814	33706814	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr18:33706814G>A	ENST00000269187.5	-	2	370	c.157C>T	c.(157-159)Cgg>Tgg	p.R53W	SLC39A6_ENST00000590986.1_Missense_Mutation_p.R53W|SLC39A6_ENST00000440549.2_Intron	NM_012319.3	NP_036451.3	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	53						integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						TGATATTGCCGTGTGGAAATT	0.388000													15	210					0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111689121	111689121	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:111689121G>A	ENST00000435970.1	-	16	6452	c.5636C>T	c.(5635-5637)tCa>tTa	p.S1879L	REV3L_ENST00000358835.3_Missense_Mutation_p.S1957L|REV3L_ENST00000368802.3_Missense_Mutation_p.S1957L|REV3L_ENST00000368805.1_Missense_Mutation_p.S1957L			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1957	Mediates interaction with MAD2L2.				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AGTCATTGCTGAGAATGCTGT	0.473000								DNA polymerases (catalytic subunits)					31	118					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12381972	12381972	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:12381972C>T	ENST00000358136.3	+	33	7785	c.7655C>T	c.(7654-7656)tCa>tTa	p.S2552L	VPS13D_ENST00000356315.4_Missense_Mutation_p.S2552L	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2552					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CAAAATAGTTCAGGATTGATG	0.413000													27	105					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11144825	11144825	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:11144825G>C	ENST00000358026.2	+	28	4184	c.3900G>C	c.(3898-3900)gaG>gaC	p.E1300D	SMARCA4_ENST00000413806.3_Missense_Mutation_p.E1267D|SMARCA4_ENST00000344626.4_Missense_Mutation_p.E1300D|SMARCA4_ENST00000429416.3_Missense_Mutation_p.E1300D|SMARCA4_ENST00000541122.2_Missense_Mutation_p.E1267D|SMARCA4_ENST00000444061.3_Missense_Mutation_p.E1267D|SMARCA4_ENST00000589677.1_Missense_Mutation_p.E1267D|SMARCA4_ENST00000450717.3_Missense_Mutation_p.E1267D|SMARCA4_ENST00000590574.1_Missense_Mutation_p.E1267D	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1300					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCGACGACGAGACCGTCAACC	0.632000			"""F, N, Mis"""		NSCLC								25	79					0	0	1	0	0
DEPDC5	9681	broad.mit.edu	37	22	32239777	32239777	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr22:32239777C>G	ENST00000400246.1	+	29	2922	c.2780C>G	c.(2779-2781)tCt>tGt	p.S927C	DEPDC5_ENST00000382112.3_Missense_Mutation_p.S918C|DEPDC5_ENST00000266091.3_Missense_Mutation_p.S927C|DEPDC5_ENST00000535622.1_Missense_Mutation_p.S849C|DEPDC5_ENST00000400248.1_Missense_Mutation_p.S918C|DEPDC5_ENST00000382105.2_Missense_Mutation_p.S849C|DEPDC5_ENST00000400249.2_Missense_Mutation_p.S918C|DEPDC5_ENST00000382111.2_Missense_Mutation_p.S927C			O75140	DEPD5_HUMAN	DEP domain containing 5	918					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TATATCTGTTCTGCCGGCTCT	0.483000													15	41					0	0	1	0	0
ADAM21	8747	broad.mit.edu	37	14	70925333	70925333	+	Missense_Mutation	SNP	G	G	C	rs144766277		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr14:70925333G>C	ENST00000603540.1	+	2	1375	c.1117G>C	c.(1117-1119)Gag>Cag	p.E373Q	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.E373Q	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	373	Peptidase M12B.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		AGTGCCAGCAGAGAAATTCAC	0.418000													30	67					0	0	1	0	0
BAZ1B	9031	broad.mit.edu	37	7	72863971	72863971	+	Missense_Mutation	SNP	T	T	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:72863971T>A	ENST00000339594.4	-	15	3967	c.3629A>T	c.(3628-3630)cAc>cTc	p.H1210L	BAZ1B_ENST00000404251.1_Missense_Mutation_p.H1210L	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1210					ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				ACAAAACAGGTGGAAGGCTTT	0.522000													19	57					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7519883	7519883	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:7519883C>T	ENST00000313599.3	-	18	4285	c.4228G>A	c.(4228-4230)Gag>Aag	p.E1410K	CD163L1_ENST00000396630.1_Intron|CD163L1_ENST00000416109.2_Missense_Mutation_p.E1420K			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1410						extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.E1410K(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GTCTCCATCTCATGGAATAAA	0.488000													30	111					0	0	1	0	0
HPS3	84343	broad.mit.edu	37	3	148857940	148857940	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:148857940G>A	ENST00000296051.2	+	2	507	c.367G>A	c.(367-369)Gac>Aac	p.D123N	HPS3_ENST00000460120.1_Intron	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	123						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AGCCTTCAGAGACCAGATGTA	0.453000									Hermansky-Pudlak syndrome				47	174					0	0	1	0	0
ZMPSTE24	10269	broad.mit.edu	37	1	40723960	40723960	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:40723960C>T	ENST00000372759.3	+	1	182	c.17C>T	c.(16-18)tCg>tTg	p.S6L	ZMPSTE24_ENST00000479131.1_3'UTR	NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	6						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	metal ion binding|metalloexopeptidase activity	p.S6W(1)|p.S6L(1)		endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			ATGTGGGCATCGCTGGACGCT	0.632000													26	89					0	0	1	0	0
KIAA1467	57613	broad.mit.edu	37	12	13221288	13221288	+	Missense_Mutation	SNP	G	G	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:13221288G>T	ENST00000197268.8	+	8	1313	c.1193G>T	c.(1192-1194)aGc>aTc	p.S398I		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	398						integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		TCCAACTGCAGCAACCTTCTG	0.493000													30	89					2.47511e-08	2.56257e-08	1	1	0
FAM90A1	55138	broad.mit.edu	37	12	8375060	8375060	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:8375060G>A	ENST00000538603.1	-	7	1311	c.753C>T	c.(751-753)ctC>ctT	p.L251L	FAM90A1_ENST00000307435.6_Silent_p.L251L	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	251							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		TGACGGCCTGGAGCAGGCCGT	0.662000													4	101					0	0	1	0	0
PDIA5	10954	broad.mit.edu	37	3	122842924	122842924	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:122842924G>A	ENST00000316218.7	+	9	716	c.621G>A	c.(619-621)ggG>ggA	p.G207G		NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	207	Thioredoxin 1.				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		TGCTGGCCGGGATGAATGTCT	0.572000													8	46					0	0	1	0	0
SORCS1	114815	broad.mit.edu	37	10	108339186	108339186	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:108339186C>T	ENST00000263054.6	-	25	3319	c.3312G>A	c.(3310-3312)ctG>ctA	p.L1104L	SORCS1_ENST00000369698.1_Silent_p.L639L|SORCS1_ENST00000344440.6_Silent_p.L1104L	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1104						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		AGAGCAGCATCAGCATGGCAG	0.557000													14	40					0	0	1	0	0
ZNF709	163051	broad.mit.edu	37	19	12575067	12575067	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:12575067C>T	ENST00000397732.3	-	4	1840	c.1669G>A	c.(1669-1671)Gag>Aag	p.E557K	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.E557K	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	557					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						TAAGGTTTCTCTCCAGTGTGA	0.428000													47	254					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51777273	51777273	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:51777273C>T	ENST00000371117.3	-	38	6498	c.6223G>A	c.(6223-6225)Gaa>Aaa	p.E2075K	PKHD1_ENST00000340994.4_Missense_Mutation_p.E2075K	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2075					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ATGACAACTTCATCCCCAGGG	0.473000													40	89					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70587515	70587515	+	Missense_Mutation	SNP	T	T	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:70587515T>G	ENST00000310961.5	+	27	4851	c.4433T>G	c.(4432-4434)cTg>cGg	p.L1478R	LRRC7_ENST00000415775.2_Missense_Mutation_p.L804R|LRRC7_ENST00000035383.5_Missense_Mutation_p.L1520R			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1520	PDZ.					centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GTATTACTACTGAAGAGTTTC	0.333000													26	96					0	0	1	0	0
FNBP4	23360	broad.mit.edu	37	11	47752952	47752952	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:47752952G>A	ENST00000263773.5	-	12	1994	c.1982C>T	c.(1981-1983)tCa>tTa	p.S661L		NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	661										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						GGATTCTGTTGAATTTGAATC	0.353000													39	117					0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5463612	5463612	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:5463612G>A	ENST00000296564.7	+	13	4387	c.4165G>A	c.(4165-4167)Gag>Aag	p.E1389K		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1389										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TTCTAACTGCGAGGCCGAAAC	0.458000													8	19					0	0	1	0	0
HIST2H2AB	317772	broad.mit.edu	37	1	149859143	149859143	+	Silent	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:149859143G>C	ENST00000331128.3	-	1	323	c.324C>G	c.(322-324)gtC>gtG	p.V108V		NM_175065.2	NP_778235.1	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	108					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			TATTGGGCAAGACGCCGCCCT	0.532000													15	80					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11144856	11144856	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:11144856G>A	ENST00000358026.2	+	28	4215	c.3931G>A	c.(3931-3933)Gag>Aag	p.E1311K	SMARCA4_ENST00000413806.3_Missense_Mutation_p.E1278K|SMARCA4_ENST00000344626.4_Missense_Mutation_p.E1311K|SMARCA4_ENST00000429416.3_Missense_Mutation_p.E1311K|SMARCA4_ENST00000541122.2_Missense_Mutation_p.E1278K|SMARCA4_ENST00000444061.3_Missense_Mutation_p.E1278K|SMARCA4_ENST00000589677.1_Missense_Mutation_p.E1278K|SMARCA4_ENST00000450717.3_Missense_Mutation_p.E1278K|SMARCA4_ENST00000590574.1_Missense_Mutation_p.E1278K	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1311					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCGGCACGAGGAGGAGTTTGA	0.602000			"""F, N, Mis"""		NSCLC								18	70					0	0	1	0	0
FOXN2	3344	broad.mit.edu	37	2	48573479	48573479	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:48573479G>A	ENST00000340553.3	+	3	387	c.126G>A	c.(124-126)ccG>ccA	p.P42P		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	42					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			CTGCCAGGCCGAAGGCCACTC	0.463000													27	95					0	0	1	0	0
RFPL1	5988	broad.mit.edu	37	22	29834886	29834886	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr22:29834886G>A	ENST00000354373.2	+	1	315	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	RFPL1S_ENST00000461286.2_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	36							zinc ion binding			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						ACTCTTCCAAGAAGCAAGCAG	0.493000													48	118					0	0	1	0	0
TBC1D1	23216	broad.mit.edu	37	4	38051364	38051364	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:38051364G>A	ENST00000261439.4	+	11	2110	c.1755G>A	c.(1753-1755)tcG>tcA	p.S585S	TBC1D1_ENST00000508802.1_Silent_p.S585S	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	585						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CTCCGCTGTCGCCCCAGCAGG	0.632000													19	94					0	0	1	0	0
SORT1	6272	broad.mit.edu	37	1	109869745	109869745	+	Silent	SNP	A	A	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:109869745A>G	ENST00000256637.6	-	13	1570	c.1512T>C	c.(1510-1512)gaT>gaC	p.D504D	SORT1_ENST00000538502.1_Silent_p.D367D	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	504					endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		AGATGTACACATCTGGAACCA	0.473000													14	57					0	0	1	0	0
SEPT11	55752	broad.mit.edu	37	4	77941766	77941766	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:77941766G>A	ENST00000264893.6	+	7	1097	c.896G>A	c.(895-897)cGc>cAc	p.R299H	SEPT11_ENST00000502584.1_Missense_Mutation_p.R299H|SEPT11_ENST00000541121.1_Missense_Mutation_p.R309H|SEPT11_ENST00000512575.1_Intron|SEPT11_ENST00000510515.1_Missense_Mutation_p.R309H|SEPT11_ENST00000505788.1_Missense_Mutation_p.R299H	NM_018243.2	NP_060713.1	Q9NVA2	SEP11_HUMAN	septin 11	299					cell cycle|cell division|protein heterooligomerization	axon|cell junction|dendritic spine|septin complex|stress fiber|synapse	GTP binding|protein binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	11						TTGTACCGACGCTGTAAGCTT	0.507000													3	29					0	0	1	0	0
DGKK	139189	broad.mit.edu	37	X	50165507	50165507	+	RNA	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:50165507C>T	ENST00000376025.2	-	0	833							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					ACAGATCAATCGTTTCAAAGT	0.428000													19	22					0	0	1	0	0
FRMD5	84978	broad.mit.edu	37	15	44211674	44211674	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:44211674C>T	ENST00000417257.1	-	4	488	c.312G>A	c.(310-312)ctG>ctA	p.L104L	FRMD5_ENST00000484674.1_Silent_p.L15L|FRMD5_ENST00000402883.1_Silent_p.L104L	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	104	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		TTTCTTCTTTCAGAGCAGCAG	0.512000													52	197					0	0	1	0	0
MAPK1	5594	broad.mit.edu	37	22	22162014	22162014	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr22:22162014C>T	ENST00000215832.6	-	2	429	c.241G>A	c.(241-243)Gag>Aag	p.E81K	MAPK1_ENST00000398822.3_Missense_Mutation_p.E81K|MAPK1_ENST00000544786.1_Missense_Mutation_p.E81K	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	81	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)	ATGATGTTCTCATGTCTGAAG	0.438000													30	103					0	0	1	0	0
MAP3K7	6885	broad.mit.edu	37	6	91263225	91263225	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:91263225C>T	ENST00000369329.3	-	7	849	c.688G>A	c.(688-690)Gat>Aat	p.D230N	MAP3K7_ENST00000369327.3_Missense_Mutation_p.D230N|MAP3K7_ENST00000369332.3_Missense_Mutation_p.D230N|MAP3K7_ENST00000369325.3_Missense_Mutation_p.D230N	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	230	Protein kinase.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		CCAATCTCATCAAAGGGTTTC	0.373000													40	135					0	0	1	0	0
SPATA20	64847	broad.mit.edu	37	17	48627670	48627670	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:48627670C>G	ENST00000006658.6	+	9	1215	c.1095C>G	c.(1093-1095)ttC>ttG	p.F365L	SPATA20_ENST00000393244.3_Missense_Mutation_p.F305L|SPATA20_ENST00000356488.4_Missense_Mutation_p.F349L|SPATA20_ENST00000511937.1_3'UTR	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	349					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CGCAGGCCTTCCAGGTGACCC	0.592000											OREG0024568	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	40					0	0	1	0	0
EXOC1	55763	broad.mit.edu	37	4	56759928	56759928	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:56759928G>C	ENST00000381295.2	+	15	2283	c.1935G>C	c.(1933-1935)agG>agC	p.R645S	EXOC1_ENST00000346134.7_Missense_Mutation_p.R645S|EXOC1_ENST00000349598.6_Missense_Mutation_p.R630S	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	645					exocytosis|protein transport	exocyst	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					CTGTCAAAAGGAACTTTGACA	0.333000													16	72					0	0	1	0	0
OSBPL7	114881	broad.mit.edu	37	17	45886706	45886706	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:45886706G>A	ENST00000007414.3	-	19	2210	c.2019C>T	c.(2017-2019)ttC>ttT	p.F673F	OSBPL7_ENST00000392507.3_Silent_p.F673F	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	673					lipid transport		lipid binding			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						ACACCTTGCAGAAGGTGATCT	0.597000													12	43					0	0	1	0	0
FAM111A	63901	broad.mit.edu	37	11	58919321	58919321	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:58919321C>T	ENST00000528737.1	+	5	2998	c.180C>T	c.(178-180)ttC>ttT	p.F60F	FAM111A_ENST00000420244.1_Silent_p.F60F|FAM111A_ENST00000361723.3_Silent_p.F60F|FAM111A_ENST00000531147.1_Silent_p.F60F|FAM111A_ENST00000533703.1_Silent_p.F60F			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	60					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				CTCAAAGATTCCATTCACCTA	0.413000													28	120					0	0	1	0	0
INPP5B	3633	broad.mit.edu	37	1	38331545	38331545	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:38331545G>A	ENST00000373023.2	-	22	2735	c.2642C>T	c.(2641-2643)tCt>tTt	p.S881F	INPP5B_ENST00000373026.1_Missense_Mutation_p.S881F|INPP5B_ENST00000373024.3_Missense_Mutation_p.S801F|INPP5B_ENST00000373027.1_Missense_Mutation_p.S637F	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	881	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TTCGGCTACAGAATGATTGCT	0.512000													6	57					0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193082049	193082049	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:193082049G>C	ENST00000342358.4	-	2	201	c.84C>G	c.(82-84)gaC>gaG	p.D28E		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	28					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GTACATTGTGGTCCCGGTAAC	0.448000													9	224					0	0	1	0	0
POR	5447	broad.mit.edu	37	7	75608783	75608783	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:75608783C>T	ENST00000394893.1	+	4	272	c.252C>T	c.(250-252)atC>atT	p.I84I	POR_ENST00000475509.1_3'UTR|POR_ENST00000461988.1_Silent_p.I84I|POR_ENST00000419840.1_5'UTR			P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase	81	Flavodoxin-like.				cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	iron ion binding|NADPH-hemoprotein reductase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)	GGAACATCATCGTGTTCTACG	0.647000													8	34					0	0	1	0	0
RNF39	80352	broad.mit.edu	37	6	30043456	30043456	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:30043456G>C	ENST00000244360.6	-	1	208	c.111C>G	c.(109-111)atC>atG	p.I37M	RNF39_ENST00000376751.3_Missense_Mutation_p.I37M	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	37						cytoplasm	zinc ion binding										TTGCTGTGTAGATGCCCTTCT	0.612000													16	56					0	0	1	0	0
NKIRAS1	28512	broad.mit.edu	37	3	23934657	23934657	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:23934657G>C	ENST00000443659.2	-	4	1285	c.508C>G	c.(508-510)Caa>Gaa	p.Q170E	NKIRAS1_ENST00000415901.2_Missense_Mutation_p.Q170E|NKIRAS1_ENST00000425478.2_Missense_Mutation_p.Q170E|NKIRAS1_ENST00000416026.2_Missense_Mutation_p.Q170E|NKIRAS1_ENST00000412028.1_Missense_Mutation_p.Q170E|NKIRAS1_ENST00000421515.2_Missense_Mutation_p.Q170E|NKIRAS1_ENST00000437230.1_Missense_Mutation_p.Q170E|NKIRAS1_ENST00000388759.3_Missense_Mutation_p.Q170E			Q9NYS0	KBRS1_HUMAN	NFKB inhibitor interacting Ras-like 1	170					I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	7						CTCTGGGGTTGAGAAAGTTTA	0.398000													28	99					0	0	1	0	0
SP2	6668	broad.mit.edu	37	17	46000473	46000473	+	Nonsense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:46000473C>G	ENST00000376741.4	+	4	1342	c.1205C>G	c.(1204-1206)tCa>tGa	p.S402*	AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000451140.2_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	402					immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						AAAAAGCACTCAGCTGCAATT	0.612000													13	38					0	0	1	0	0
HPS3	84343	broad.mit.edu	37	3	148858056	148858056	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:148858056G>A	ENST00000296051.2	+	2	623	c.483G>A	c.(481-483)ttG>ttA	p.L161L	HPS3_ENST00000460120.1_Intron	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	161						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TATTTAGTTTGAAGTACCAGA	0.388000									Hermansky-Pudlak syndrome				34	160					0	0	1	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47424871	47424871	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:47424871C>T	ENST00000404338.3	+	1	2939	c.2939C>T	c.(2938-2940)tCa>tTa	p.S980L		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	980					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										CTCTGCAACTCAAACCTGCAG	0.498000													23	71					0	0	1	0	0
TSTD2	158427	broad.mit.edu	37	9	100388016	100388016	+	Translation_Start_Site	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:100388016G>A	ENST00000375172.2	-	0	629				TSTD2_ENST00000354801.2_De_novo_Start_OutOfFrame|TSTD2_ENST00000375165.1_De_novo_Start_OutOfFrame|TSTD2_ENST00000341170.4_Silent_p.D143D|TSTD2_ENST00000375163.1_De_novo_Start_OutOfFrame			Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2											large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						AAGCAGACACGTCATGGCTAT	0.393000													39	169					0	0	1	0	0
LAMB2	3913	broad.mit.edu	37	3	49160617	49160617	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:49160617C>T	ENST00000418109.1	-	27	4336	c.4172G>A	c.(4171-4173)gGc>gAc	p.G1391D	LAMB2_ENST00000305544.4_Missense_Mutation_p.G1391D	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1391	Domain II.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGAGAGCTTGCCAAGTGCCCG	0.562000													4	106					0	0	1	0	0
RFX7	64864	broad.mit.edu	37	15	56388213	56388213	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:56388213C>T	ENST00000423270.1	-	9	1712	c.1713G>A	c.(1711-1713)caG>caA	p.Q571Q	RFX7_ENST00000422057.1_Silent_p.Q474Q|RFX7_ENST00000559447.2_Silent_p.Q474Q|RFX7_ENST00000317318.6_Silent_p.Q571Q	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	474					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TATTACTTTTCTGCCCCAAAA	0.453000													8	23					0	0	1	0	0
HMGA2	8091	broad.mit.edu	37	12	66308868	66308868	+	Missense_Mutation	SNP	G	G	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:66308868G>T	ENST00000354636.3	+	4	1090	c.279G>T	c.(277-279)aaG>aaT	p.K93N	HMGA2_ENST00000536545.1_3'UTR|AC090673.2_ENST00000601398.1_Intron|HMGA2_ENST00000541363.1_Intron|HMGA2_ENST00000403681.2_Intron|HMGA2_ENST00000393577.3_Intron	NM_003484.1	NP_003475.1	P52926	HMGA2_HUMAN	high mobility group AT-hook 2	93					cell division|chromatin organization|mitosis|multicellular organismal development|regulation of growth|transcription, DNA-dependent	chromatin	AT DNA binding		HMGA2/RAD51B(11)|HMGA2/CCNB1IP1(2)|HMGA2/WIF1_ENST00000286574(14)|HMGA2/ALDH2_ENST00000261733(2)|HMGA2/EBF1(2)|HMGA2/LHFP(2)|HMGA2/NFIB_ENST00000397581(8)|HMGA2/LPP(161)|HMGA2/FHIT_ENST00000476844(4)|HMGA2/COX6C(2)	lung(2)	2	all_cancers(1;5.78e-46)		GBM - Glioblastoma multiforme(1;0.00179)|LUSC - Lung squamous cell carcinoma(43;0.156)	GBM - Glioblastoma multiforme(28;0.0386)		CCAGCTCCAAGAAGAAAACAT	0.423000			T	""" LHFP, RAD51L1, LPP, COX6C, CMKOR1, NFIB, ALDH2, CCNB1IP1, EBF1, WIF1, FHIT"""	"""lipoma, leiomyoma, pleiomorphic salivary gland adenoma"""								33	148					6.70999e-13	7.12328e-13	1	1	0
SYTL1	84958	broad.mit.edu	37	1	27676949	27676949	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:27676949G>A	ENST00000543823.1	+	9	1440	c.978G>A	c.(976-978)ctG>ctA	p.L326L	SYTL1_ENST00000318074.5_Silent_p.L314L|SYTL1_ENST00000490170.1_3'UTR			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	326	C2 1.				exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	neurexin binding|Rab GTPase binding			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AACGGAATCTGAATCCGGTTT	0.592000													14	46					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57592321	57592321	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:57592321G>A	ENST00000243077.3	+	60	10010	c.9544G>A	c.(9544-9546)Gtc>Atc	p.V3182I		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3182					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CAGCCGCAGCGTCATCGTGGA	0.597000													9	17					0	0	1	0	0
CNTLN	54875	broad.mit.edu	37	9	17332691	17332691	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:17332691G>A	ENST00000380647.3	+	10	1691	c.1607G>A	c.(1606-1608)aGa>aAa	p.R536K	CNTLN_ENST00000425824.1_Missense_Mutation_p.R536K|CNTLN_ENST00000262360.5_Missense_Mutation_p.R536K			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	536						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AAAGCTGAAAGAAAGATTGAA	0.363000													31	77					0	0	1	0	0
TBCK	93627	broad.mit.edu	37	4	107092323	107092323	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:107092323C>G	ENST00000273980.4	-	24	2611	c.2164G>C	c.(2164-2166)Gac>Cac	p.D722H	TBCK_ENST00000394706.3_Missense_Mutation_p.D683H|TBCK_ENST00000432496.2_Missense_Mutation_p.D722H|TBCK_ENST00000361687.4_Missense_Mutation_p.D659H|TBCK_ENST00000514689.1_5'UTR|TBCK_ENST00000394708.2_Missense_Mutation_p.D722H			Q8TEA7	TBCK_HUMAN	TBC1 domain containing kinase	722						intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						CCACTGCTGTCAGAAGATGGC	0.443000													32	83					0	0	1	0	0
RPRD1A	55197	broad.mit.edu	37	18	33573241	33573241	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr18:33573241C>T	ENST00000399022.4	-	7	983	c.812G>A	c.(811-813)aGa>aAa	p.R271K	RPRD1A_ENST00000337059.5_Missense_Mutation_p.R235K|RPRD1A_ENST00000588737.1_Missense_Mutation_p.R235K|RPRD1A_ENST00000590898.1_Missense_Mutation_p.R235K|RPRD1A_ENST00000357384.4_Missense_Mutation_p.R271K	NM_018170.3	NP_060640.2	Q96P16	RPR1A_HUMAN	regulation of nuclear pre-mRNA domain containing 1A	271										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						CAGGGAAACTCTGGCTAGCTT	0.483000													13	63					0	0	1	0	0
STAG1	10274	broad.mit.edu	37	3	136141363	136141363	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:136141363G>A	ENST00000383202.2	-	19	2182	c.1926C>T	c.(1924-1926)atC>atT	p.I642I	STAG1_ENST00000536929.1_Silent_p.I226I|STAG1_ENST00000236698.5_Silent_p.I642I|STAG1_ENST00000434713.2_Silent_p.I416I	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	642					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						CACTGCATAAGATACTATAGG	0.393000													42	259					0	0	1	0	0
PSMD4	5710	broad.mit.edu	37	1	151239649	151239649	+	Splice_Site	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:151239649G>A	ENST00000368884.3	+	10	1044	c.963_splice	c.e10-1	p.E322_splice	PSMD4_ENST00000368881.4_Splice_Site_p.E325_splice	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 4	322					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|lung(7)	11	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CTGTTTGCAGGAGGAGGATGA	0.562000													30	105					0	0	1	0	0
ABAT	18	broad.mit.edu	37	16	8875228	8875228	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:8875228G>A	ENST00000396600.2	+	16	2382	c.1444G>A	c.(1444-1446)Gat>Aat	p.D482N	TMEM186_ENST00000564869.1_5'UTR|ABAT_ENST00000569156.1_Silent_p.G501G|ABAT_ENST00000567812.1_Missense_Mutation_p.D497N|ABAT_ENST00000268251.8_Missense_Mutation_p.D482N|ABAT_ENST00000425191.2_Missense_Mutation_p.D482N	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	482					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	GGTCTTCAGGGATCACCACGC	0.507000													21	95					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228855743	228855743	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:228855743C>T	ENST00000392056.3	-	11	4978	c.4932G>A	c.(4930-4932)aaG>aaA	p.K1644K	SPHKAP_ENST00000344657.5_Silent_p.K1615K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1644						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CCTGAGATTTCTTAAAGTAGA	0.453000													12	82					0	0	1	0	0
ATL1	51062	broad.mit.edu	37	14	51094928	51094928	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr14:51094928C>G	ENST00000441560.2	+	13	1780	c.1299C>G	c.(1297-1299)atC>atG	p.I433M	ATL1_ENST00000357032.3_Missense_Mutation_p.I433M|ATL1_ENST00000354525.4_Missense_Mutation_p.I433M|ATL1_ENST00000358385.6_Missense_Mutation_p.I433M	NM_001127713.1	NP_001121185.1	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1	433					axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						TCCAATATATCAAGCACAATG	0.438000													33	76					0	0	1	0	0
PTPRG	5793	broad.mit.edu	37	3	62254739	62254739	+	Missense_Mutation	SNP	G	G	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:62254739G>T	ENST00000474889.1	+	20	3281	c.2904G>T	c.(2902-2904)gaG>gaT	p.E968D	PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.E939D|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	968	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		GGCCAACAGAGAACAGTGAGG	0.353000													15	83					2.32078e-09	2.41703e-09	1	1	0
ZNF382	84911	broad.mit.edu	37	19	37117137	37117137	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:37117137G>A	ENST00000435416.1	+	3	1830	c.335G>A	c.(334-336)aGa>aAa	p.R112K	ZNF382_ENST00000423582.1_Missense_Mutation_p.R64K|ZNF382_ENST00000292928.2_Missense_Mutation_p.R113K|ZNF382_ENST00000439428.1_Missense_Mutation_p.R112K			Q96SR6	ZN382_HUMAN	zinc finger protein 382	113	Represses transcription (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			ATTAAGGAGAGAAGTAATATT	0.313000													32	101					0	0	1	0	0
SIGLEC16	400709	broad.mit.edu	37	19	50474960	50474960	+	RNA	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:50474960C>G	ENST00000602139.1	+	0	1035									sialic acid binding Ig-like lectin 16 (gene/pseudogene)									p.A337G(1)|p.A299G(1)		endometrium(2)|kidney(2)|lung(6)	10						GTTTCCCAAGCAAACAGGACA	0.597000													6	155					0	0	1	0	0
SLC5A2	6524	broad.mit.edu	37	16	31500498	31500498	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:31500498C>T	ENST00000330498.3	+	12	1523	c.1504C>T	c.(1504-1506)Ccc>Tcc	p.P502S		NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	502					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						ACGCCTGATTCCCGAGTTCTC	0.637000													6	50					0	0	1	0	0
DDX39A	10212	broad.mit.edu	37	19	14521829	14521829	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:14521829G>A	ENST00000242776.4	-	5	686	c.585C>T	c.(583-585)gaC>gaT	p.D195D	DDX39A_ENST00000454233.2_Silent_p.D195D|DDX39A_ENST00000592927.1_5'UTR	NM_005804.3	NP_005795.2	O00148	DX39A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A	195	Helicase ATP-binding.				mRNA export from nucleus|nuclear mRNA splicing, via spliceosome	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|endometrium(5)|kidney(1)|lung(2)|ovary(1)|pancreas(1)	11						TGTCACACTCGTCCAGCACAA	0.612000													16	102					0	0	1	0	0
OPN4	94233	broad.mit.edu	37	10	88416979	88416979	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:88416979G>A	ENST00000372071.2	+	3	545	c.318G>A	c.(316-318)atG>atA	p.M106I	OPN4_ENST00000241891.5_Intron	NM_001030015.2	NP_001025186.1	Q9UHM6	OPN4_HUMAN	opsin 4	97					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						tcactgtgatgatgcagtaag	0.532000													19	64					0	0	1	0	0
SBF1	6305	broad.mit.edu	37	22	50903084	50903084	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr22:50903084G>A	ENST00000380817.2	-	14	1698	c.1515C>T	c.(1513-1515)ttC>ttT	p.F505F	SBF1_ENST00000390679.3_Silent_p.F505F|SBF1_ENST00000348911.6_Silent_p.F506F	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	505					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CCAGCCGGGGGAAGGGTCGGG	0.682000													10	68					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227886817	227886817	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:227886817C>G	ENST00000396625.3	-	44	4370	c.4163G>C	c.(4162-4164)aGa>aCa	p.R1388T	COL4A4_ENST00000329662.7_Missense_Mutation_p.R1385T	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1388	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TTCTGGTCCTCTCATGCCTGG	0.547000													55	201					0	0	1	0	0
ZC3H18	124245	broad.mit.edu	37	16	88653065	88653065	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:88653065C>T	ENST00000301011.5	+	3	861	c.661C>T	c.(661-663)Cgt>Tgt	p.R221C	ZC3H18_ENST00000452588.2_Missense_Mutation_p.R221C	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	221						nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		GGTGAGGCCTCGTCCCACCTG	0.582000													14	36					0	0	1	0	0
ZNF551	90233	broad.mit.edu	37	19	58199002	58199002	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:58199002G>A	ENST00000282296.5	+	3	1544	c.1359G>A	c.(1357-1359)ggG>ggA	p.G453G	AC003006.7_ENST00000599221.1_Intron|ZNF551_ENST00000356715.4_Silent_p.G437G|AC003006.7_ENST00000596085.1_Intron	NM_001270938.1	NP_001257867.1	Q7Z340	ZN551_HUMAN	zinc finger protein 551	453					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GAGAATGTGGGAAATCCTTTA	0.433000													39	90					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49448120	49448120	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:49448120C>T	ENST00000301067.7	-	4	479	c.480G>A	c.(478-480)gtG>gtA	p.V160V		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TGGCCTTGTCCACACCACATA	0.597000													4	11					0	0	1	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84532813	84532813	+	RNA	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:84532813C>T	ENST00000527857.1	+	0	2835					NR_026851.1																						ATCTTCAAATCGGAAGAGGAT	0.428000													6	19					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34088974	34088974	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:34088974G>C	ENST00000373381.4	-	36	5894	c.5718C>G	c.(5716-5718)ttC>ttG	p.F1906L	CSMD2_ENST00000373388.2_Missense_Mutation_p.F5L|CSMD2_ENST00000373380.1_Missense_Mutation_p.F779L|CSMD2_ENST00000373377.1_Missense_Mutation_p.F5L	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1866						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCTTACCTGAGAAACTCCCCA	0.423000													33	94					0	0	1	0	0
CASC5	57082	broad.mit.edu	37	15	40949601	40949601	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:40949601G>A	ENST00000346991.5	+	25	7111	c.6721G>A	c.(6721-6723)Gag>Aag	p.E2241K	CASC5_ENST00000399668.2_Missense_Mutation_p.E2215K			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	2241	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		ACTCCTTGGAGAGGAGATTGA	0.348000													37	136					0	0	1	0	0
ELP2	55250	broad.mit.edu	37	18	33739932	33739932	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr18:33739932G>A	ENST00000358232.6	+	16	1705	c.1642G>A	c.(1642-1644)Gag>Aag	p.E548K	ELP2_ENST00000442325.2_Missense_Mutation_p.E613K|ELP2_ENST00000542824.1_Missense_Mutation_p.E478K|ELP2_ENST00000423854.2_Missense_Mutation_p.E478K|ELP2_ENST00000542050.1_Intron|ELP2_ENST00000351393.6_Missense_Mutation_p.E522K|ELP2_ENST00000350494.6_Missense_Mutation_p.E543K	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	548					regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						GCCTCCCACTGAGGATCATCT	0.353000													16	111					0	0	1	0	0
KRT23	25984	broad.mit.edu	37	17	39092585	39092585	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:39092585G>A	ENST00000209718.3	-	2	695	c.271C>T	c.(271-273)Cgc>Tgc	p.R91C	KRT23_ENST00000436344.3_Intron|AC004231.2_ENST00000418393.1_RNA	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	91	Coil 1A.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				TCCAGGGCGCGAACCTTCTCC	0.557000													24	113					0	0	1	0	0
GSX2	170825	broad.mit.edu	37	4	54967927	54967927	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:54967927G>C	ENST00000326902.2	+	2	1067	c.753G>C	c.(751-753)caG>caC	p.Q251H	GSX2_ENST00000503800.1_3'UTR|FIP1L1_ENST00000507166.1_Intron|GSX2_ENST00000548609.1_3'UTR	NM_133267.2	NP_573574.1	Q9BZM3	GSX2_HUMAN	GS homeobox 2	251						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(2)|lung(2)	6	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			TCTGGTTTCAGAACCGCCGAG	0.567000													24	112					0	0	1	0	0
LRRC23	10233	broad.mit.edu	37	12	7014885	7014885	+	Nonsense_Mutation	SNP	G	G	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:7014885G>T	ENST00000007969.8	+	2	308	c.88G>T	c.(88-90)Gag>Tag	p.E30*	LRRC23_ENST00000429740.1_Nonsense_Mutation_p.E30*|LRRC23_ENST00000433346.1_Nonsense_Mutation_p.E30*|LRRC23_ENST00000449039.1_3'UTR|LRRC23_ENST00000436789.1_Nonsense_Mutation_p.E30*|LRRC23_ENST00000443597.2_Nonsense_Mutation_p.E30*|LRRC23_ENST00000323702.5_Nonsense_Mutation_p.E30*	NM_001135217.1|NM_201650.2	NP_001128689.1|NP_964013.1	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23	30										NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						agaggagggggaggactacag	0.542000													19	55					1.33834e-09	1.39549e-09	1	1	0
SLC25A16	8034	broad.mit.edu	37	10	70253311	70253311	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:70253311G>C	ENST00000265870.2	-	5	536	c.438C>G	c.(436-438)atC>atG	p.I146M	SLC25A16_ENST00000539557.1_Missense_Mutation_p.I48M|SLC25A16_ENST00000493963.1_5'UTR	NM_152707.3	NP_689920.1	P16260	GDC_HUMAN	solute carrier family 25 (mitochondrial carrier; Graves disease autoantigen), member 16	146					coenzyme biosynthetic process|pantothenate metabolic process	integral to membrane|mitochondrial inner membrane	binding|solute:solute antiporter activity			endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	7						GGTAAGTACAGATAACTGCTG	0.343000													11	55					0	0	1	0	0
INSL6	11172	broad.mit.edu	37	9	5185354	5185354	+	Silent	SNP	C	C	T	rs146054352	by1000genomes	TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:5185354C>T	ENST00000381641.3	-	1	314	c.249G>A	c.(247-249)ccG>ccA	p.P83P		NM_007179.2	NP_009110.2	Q9Y581	INSL6_HUMAN	insulin-like 6	83						extracellular region	hormone activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		AAGCGGTTTGCGGGCTTTCGA	0.527000													8	588					0	0	1	0	0
MRPS7	51081	broad.mit.edu	37	17	73258704	73258704	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:73258704G>A	ENST00000579761.1	+	2	437	c.210G>A	c.(208-210)aaG>aaA	p.K70K	MRPS7_ENST00000579002.1_Silent_p.K99K|MRPS7_ENST00000245539.6_Silent_p.K70K			Q9Y2R9	RT07_HUMAN	mitochondrial ribosomal protein S7	70					translation	cytosolic small ribosomal subunit|mitochondrion	protein binding|RNA binding|structural constituent of ribosome			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			AGCTCAAGAAGACTCAGCTCA	0.448000													54	177					0	0	1	0	0
SRSF2	6427	broad.mit.edu	37	17	74732510	74732510	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:74732510C>T	ENST00000392485.2	-	2	571	c.399G>A	c.(397-399)cgG>cgA	p.R133R	MFSD11_ENST00000588460.1_5'UTR|RP11-318A15.7_ENST00000587459.1_Intron|SRSF2_ENST00000359995.5_Silent_p.R133R|MFSD11_ENST00000586622.1_5'UTR|SRSF2_ENST00000508921.3_Silent_p.R121R	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	133	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding|transcription corepressor activity			haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						TGGAACGACTCCGACTCCGGG	0.697000			Mis		"""MDS, CLL"""								24	40					0	0	1	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659578	24659578	+	RNA	SNP	A	A	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr22:24659578A>G	ENST00000414583.2	+	0	3103					NR_003714.1																						TGCGCAGGCCAACACTCACTG	0.617000													5	17					0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85441137	85441137	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:85441137C>T	ENST00000393217.2	+	6	628	c.567C>T	c.(565-567)ctC>ctT	p.L189L		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	189	Glu-rich.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AACAAACTCTCAAAGCTCAGA	0.333000													32	116					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537000			T	MLL	ALL								4	111					0	0	1	0	0
PSIP1	11168	broad.mit.edu	37	9	15468728	15468728	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:15468728C>T	ENST00000380733.4	-	14	1663	c.1320G>A	c.(1318-1320)ctG>ctA	p.L440L	PSIP1_ENST00000380738.4_Silent_p.L440L			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	440					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		GAGATTTATTCAGCACTTGGG	0.388000													36	161					0	0	1	0	0
BMP15	9210	broad.mit.edu	37	X	50659224	50659224	+	Missense_Mutation	SNP	A	A	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:50659224A>C	ENST00000252677.3	+	2	796	c.796A>C	c.(796-798)Acc>Ccc	p.T266P		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	266					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					TCTCCGGAGAACCCGACAAGC	0.463000													15	16					0	0	1	0	0
KIRREL	55243	broad.mit.edu	37	1	158064506	158064506	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:158064506G>C	ENST00000368172.1	+	11	1324	c.1312G>C	c.(1312-1314)Gac>Cac	p.D438H	KIRREL_ENST00000392272.2_Missense_Mutation_p.D521H|KIRREL_ENST00000416935.2_Missense_Mutation_p.D524H|KIRREL_ENST00000368173.3_Missense_Mutation_p.D640H|KIRREL_ENST00000359209.6_Missense_Mutation_p.D624H|KIRREL_ENST00000360089.4_Missense_Mutation_p.D460H			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	624	Ig-like C2-type 5.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GCTCTATGCTGACTACCGTGC	0.647000													8	46					0	0	1	0	0
LPCAT1	79888	broad.mit.edu	37	5	1463930	1463930	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:1463930C>T	ENST00000283415.3	-	14	1573	c.1441G>A	c.(1441-1443)Gaa>Aaa	p.E481K	LPCAT1_ENST00000503252.1_5'UTR	NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	481	EF-hand 2.				phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		GGGTACATTTCTGCAAACCTG	0.527000													32	131					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	134145740	134145740	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr8:134145740C>T	ENST00000220616.4	+	47	8064	c.8024C>T	c.(8023-8025)tCa>tTa	p.S2675L	TG_ENST00000542445.1_Missense_Mutation_p.S1045L|TG_ENST00000519543.1_Missense_Mutation_p.S808L|TG_ENST00000377869.1_Missense_Mutation_p.S2618L	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2675					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TATGAGTTCTCACGGAAAGTA	0.478000													19	70					0	0	1	0	0
DDX3X	1654	broad.mit.edu	37	X	41205605	41205605	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:41205605G>C	ENST00000399959.2	+	13	2294	c.1439G>C	c.(1438-1440)aGa>aCa	p.R480T	DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000457138.2_Missense_Mutation_p.R464T|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000542215.1_3'UTR	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	480	Helicase C-terminal.|Necessary for interaction with XPO1.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						CAGAGGGATAGAGAAGAGGCC	0.433000										HNSCC(61;0.18)			25	36					0	0	1	0	0
CAPN1	823	broad.mit.edu	37	11	64954685	64954685	+	Splice_Site	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:64954685G>A	ENST00000527323.1	+	6	999		c.e6-1		CAPN1_ENST00000533129.1_Splice_Site|CAPN1_ENST00000524773.1_Splice_Site|CAPN1_ENST00000279247.6_Splice_Site|CAPN1_ENST00000533820.1_Splice_Site			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit						positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		TCTTTCTGCAGATCTCCAGCG	0.582000													6	16					0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157959963	157959963	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:157959963C>G	ENST00000389413.3	-	6	673	c.570G>C	c.(568-570)gaG>gaC	p.E190D	PTPRN2_ENST00000389418.4_Missense_Mutation_p.E190D|PTPRN2_ENST00000404321.2_Missense_Mutation_p.E213D|PTPRN2_ENST00000409483.1_Missense_Mutation_p.E152D|PTPRN2_ENST00000389416.4_Missense_Mutation_p.E173D	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	190						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)		TCAGGATGCTCTCGGAGAAGC	0.622000													18	32					0	0	1	0	0
DDX3X	1654	broad.mit.edu	37	X	41205821	41205821	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:41205821G>C	ENST00000399959.2	+	14	2416	c.1561G>C	c.(1561-1563)Gat>Cat	p.D521H	DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000457138.2_Missense_Mutation_p.D505H|DDX3X_ENST00000441189.2_Intron	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	521	Helicase C-terminal.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						CTTGCCAAGTGATATTGAAGA	0.363000										HNSCC(61;0.18)			36	62					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6125817	6125817	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:6125817G>A	ENST00000261405.5	-	30	5430	c.5176C>T	c.(5176-5178)Cgt>Tgt	p.R1726C		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	1726	VWFA 3; main binding site for collagens type I and III.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	p.R1726S(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TGAGTGAGACGAGGCCCTAAA	0.527000													16	73					0	0	1	0	0
CNDP1	84735	broad.mit.edu	37	18	72250822	72250822	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr18:72250822C>G	ENST00000582365.1	+	10	1272	c.1206C>G	c.(1204-1206)atC>atG	p.I402M	CNDP1_ENST00000358821.3_Missense_Mutation_p.I445M			Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	445					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		CAGATATGATCCGGGATGGAT	0.488000													23	118					0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120479962	120479962	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:120479962G>A	ENST00000256646.2	-	21	3684	c.3465C>T	c.(3463-3465)tcC>tcT	p.S1155S		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1155	EGF-like 30; calcium-binding (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGCAGGGGTTGGACGCACACT	0.562000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				23	84					0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109812412	109812412	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:109812412C>T	ENST00000271332.3	+	22	7138	c.7077C>T	c.(7075-7077)ttC>ttT	p.F2359F		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2359	GPS.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	p.F2359F(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TGACGAGCTTCGCTGTGCTCA	0.662000													54	157					0	0	1	0	0
PDE4C	5143	broad.mit.edu	37	19	18331312	18331312	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:18331312C>T	ENST00000355502.3	-	10	1480	c.609G>A	c.(607-609)caG>caA	p.Q203Q	PDE4C_ENST00000594465.2_Silent_p.Q203Q|PDE4C_ENST00000262805.11_Silent_p.Q171Q|PDE4C_ENST00000594617.2_Silent_p.Q203Q|AC068499.10_ENST00000594805.2_RNA|PDE4C_ENST00000539010.1_5'UTR|PDE4C_ENST00000447275.2_Silent_p.Q97Q			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	203					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	ATGCCAGCTTCTGCCCCGTGT	0.662000													6	40					0	0	1	0	0
BTBD3	22903	broad.mit.edu	37	20	11899749	11899749	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:11899749C>T	ENST00000405977.1	+	3	967	c.342C>T	c.(340-342)ttC>ttT	p.F114F	BTBD3_ENST00000378226.2_Silent_p.F114F|BTBD3_ENST00000254977.3_Silent_p.F53F|BTBD3_ENST00000399006.2_Silent_p.F53F			Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	114										breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						CGATGATGTTCAATAATGATT	0.438000													9	39					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10452365	10452365	+	Missense_Mutation	SNP	C	C	G	rs41293357		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:10452365C>G	ENST00000397077.1	-	5	909	c.334G>C	c.(334-336)Gag>Cag	p.E112Q	ATP2B2_ENST00000352432.4_Missense_Mutation_p.E112Q|ATP2B2_ENST00000360273.2_Missense_Mutation_p.E112Q|ATP2B2_ENST00000343816.4_Missense_Mutation_p.E112Q|ATP2B2_ENST00000383800.4_Missense_Mutation_p.E112Q			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	112					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GCGGCAATCTCCAGGATGATG	0.572000													48	209					0	0	1	0	0
PDE6A	5145	broad.mit.edu	37	5	149277943	149277943	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:149277943C>T	ENST00000255266.5	-	10	1509	c.1390G>A	c.(1390-1392)Gaa>Aaa	p.E464K		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	464					cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TTCTGAATTTCTTCATTGTCA	0.348000													24	87					0	0	1	0	0
RANBP6	26953	broad.mit.edu	37	9	6013702	6013702	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:6013702C>T	ENST00000259569.5	-	1	1916	c.1906G>A	c.(1906-1908)Gag>Aag	p.E636K	RANBP6_ENST00000485372.1_5'UTR	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	636					protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		ATAAGAGGCTCGATAACCAGT	0.413000													40	452					0	0	1	0	0
CLIC1	1192	broad.mit.edu	37	6	31701346	31701346	+	Missense_Mutation	SNP	C	C	T	rs151146724		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:31701346C>T	ENST00000375780.2	-	5	951	c.379G>A	c.(379-381)Gac>Aac	p.D127N	CLIC1_ENST00000395892.1_Missense_Mutation_p.D127N|CLIC1_ENST00000375779.2_Missense_Mutation_p.D127N|CLIC1_ENST00000375784.3_Missense_Mutation_p.D127N			O00299	CLIC1_HUMAN	chloride intracellular channel 1	127	GST C-terminal.				signal transduction	brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction	protein binding|voltage-gated chloride channel activity			central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						GACTCACTGTCATTGAGTGCT	0.537000													4	31					0	0	1	0	0
TNRC6C	57690	broad.mit.edu	37	17	76060974	76060974	+	Missense_Mutation	SNP	G	G	A	rs62078559		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:76060974G>A	ENST00000335749.4	+	4	3127	c.2558G>A	c.(2557-2559)gGa>gAa	p.G853E	TNRC6C_ENST00000544502.1_Missense_Mutation_p.G853E|TNRC6C_ENST00000541771.1_Missense_Mutation_p.G856E|TNRC6C_ENST00000588061.1_Missense_Mutation_p.G856E|TNRC6C_ENST00000588847.1_Missense_Mutation_p.G853E|TNRC6C_ENST00000301624.4_Missense_Mutation_p.G856E	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	856	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GTGGCATTTGGAAGAGCTGGC	0.582000													5	26					0	0	1	0	0
NUP54	53371	broad.mit.edu	37	4	77053825	77053825	+	Nonsense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:77053825G>C	ENST00000264883.3	-	6	898	c.758C>G	c.(757-759)tCa>tGa	p.S253*	NUP54_ENST00000342467.6_Nonsense_Mutation_p.S73*|NUP54_ENST00000458189.2_Nonsense_Mutation_p.S73*|NUP54_ENST00000514987.1_Nonsense_Mutation_p.S205*	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	253	9 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						AACTCTTCTTGAAGTACCATT	0.373000													27	90					0	0	1	0	0
TFB2M	64216	broad.mit.edu	37	1	246727680	246727680	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:246727680C>T	ENST00000366514.4	-	2	555	c.370G>A	c.(370-372)Gaa>Aaa	p.E124K	TFB2M_ENST00000544618.1_Missense_Mutation_p.E124K	NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	124					positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity			breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			TTGTCACTTTCGAGCGCAACC	0.378000													13	58					0	0	1	0	0
NETO1	81832	broad.mit.edu	37	18	70417497	70417497	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr18:70417497G>A	ENST00000327305.6	-	9	1998	c.1341C>T	c.(1339-1341)ctC>ctT	p.L447L	NETO1_ENST00000299430.2_Silent_p.L446L|NETO1_ENST00000583169.1_Silent_p.L447L	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	447					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CTCTTGTGCTGAGGTTACTGC	0.463000													38	63					0	0	1	0	0
SLC5A2	6524	broad.mit.edu	37	16	31500538	31500538	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:31500538C>T	ENST00000330498.3	+	12	1563	c.1544C>T	c.(1543-1545)tCg>tTg	p.S515L		NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	515					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						GTGCAGCCCTCGGCGTGCCCA	0.652000													11	39					0	0	1	0	0
TCERG1	10915	broad.mit.edu	37	5	145834750	145834750	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:145834750G>A	ENST00000296702.5	+	2	229	c.191G>A	c.(190-192)cGg>cAg	p.R64Q	TCERG1_ENST00000394421.2_Missense_Mutation_p.R64Q	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	64	Pro-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCACCACCACGGCCGCCCTTT	0.607000													19	99					0	0	1	0	0
CNTLN	54875	broad.mit.edu	37	9	17332671	17332671	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:17332671G>C	ENST00000380647.3	+	10	1671	c.1587G>C	c.(1585-1587)caG>caC	p.Q529H	CNTLN_ENST00000425824.1_Missense_Mutation_p.Q529H|CNTLN_ENST00000262360.5_Missense_Mutation_p.Q529H			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	529						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AAGAGCTACAGAAGCTGAGAA	0.383000													30	79					0	0	1	0	0
OXSR1	9943	broad.mit.edu	37	3	38287675	38287675	+	Missense_Mutation	SNP	C	C	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:38287675C>A	ENST00000311806.3	+	13	1592	c.1220C>A	c.(1219-1221)tCt>tAt	p.S407Y	OXSR1_ENST00000446845.1_Missense_Mutation_p.S407Y	NM_005109.2	NP_005100.1	O95747	OXSR1_HUMAN	oxidative stress responsive 1	407					intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity	p.S407C(1)		skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		ACTCAAGTCTCTCTCCCACCC	0.493000													11	59					6.40141e-05	6.49751e-05	1	1	0
DFNB59	494513	broad.mit.edu	37	2	179325777	179325777	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:179325777G>A	ENST00000409117.3	+	7	1191	c.835G>A	c.(835-837)Gac>Aac	p.D279N	DFNB59_ENST00000375129.4_Missense_Mutation_p.D279N	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	279					sensory perception of sound					breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			TGACTACTATGACAAACCTCT	0.378000													32	160					0	0	1	0	0
ANGPT4	51378	broad.mit.edu	37	20	869080	869080	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:869080G>A	ENST00000381922.3	-	3	570	c.468C>T	c.(466-468)ctC>ctT	p.L156L	ANGPT4_ENST00000546022.1_Silent_p.L156L	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	156					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						TCTGGTTCAGGAGCTGCCCCA	0.597000													14	59					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61513653	61513653	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:61513653G>A	ENST00000266070.4	-	16	3980	c.3655C>T	c.(3655-3657)Caa>Taa	p.Q1219*	DIDO1_ENST00000395343.1_Nonsense_Mutation_p.Q1219*	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1219					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TCTTCCGGTTGAAGTCGGGTC	0.512000													40	140					0	0	1	0	0
ZNF630	57232	broad.mit.edu	37	X	47920202	47920202	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:47920202G>A	ENST00000442455.3	-	3	439	c.96C>T	c.(94-96)tcC>tcT	p.S32S	ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000409324.3_Silent_p.S46S|ZNF630_ENST00000276054.4_5'UTR	NM_001190255.1	NP_001177184.1	Q2M218	ZN630_HUMAN	zinc finger protein 630	46	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						CCTTACCCACGGAGACCAGGT	0.473000													15	10					0	0	1	0	0
TMEM223	79064	broad.mit.edu	37	11	62559355	62559355	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:62559355C>G	ENST00000307366.7	-	1	138	c.112G>C	c.(112-114)Gag>Cag	p.E38Q	TMEM223_ENST00000525631.1_Missense_Mutation_p.E38Q	NM_001080501.2	NP_001073970.1	A0PJW6	TM223_HUMAN	transmembrane protein 223	38						integral to membrane											CGATCATGCTCAAAGAGCAGC	0.692000													5	10					0	0	1	0	0
SPSB2	84727	broad.mit.edu	37	12	6981332	6981332	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:6981332G>A	ENST00000519357.1	-	2	920	c.734C>T	c.(733-735)tCt>tTt	p.S245F	SPSB2_ENST00000523102.1_Intron|SPSB2_ENST00000524270.1_Intron			Q99619	SPSB2_HUMAN	splA/ryanodine receptor domain and SOCS box containing 2	96	SOCS box.				intracellular signal transduction	cytoplasm	protein binding			kidney(2)|lung(2)|upper_aerodigestive_tract(1)	5						GCTCTTGTCAGAAGAGTTTCC	0.552000											OREG0021639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	57					0	0	1	0	0
OR5D16	390144	broad.mit.edu	37	11	55606517	55606517	+	Nonsense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:55606517C>G	ENST00000378396.1	+	1	290	c.290C>G	c.(289-291)tCa>tGa	p.S97*		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	97					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)				ATTTCATTCTCAGGATGTTTG	0.418000													55	203					0	0	1	0	0
NSUN6	221078	broad.mit.edu	37	10	18903502	18903502	+	Silent	SNP	A	A	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:18903502A>T	ENST00000377304.4	-	5	880	c.462T>A	c.(460-462)atT>atA	p.I154I		NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	154	PUA.						methyltransferase activity|RNA binding			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						ATTTTCCTTTAATATCAGAGT	0.328000													14	59					0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5485350	5485350	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:5485350G>A	ENST00000345221.3	-	3	1035	c.481C>T	c.(481-483)Cca>Tca	p.P161S	NLRP1_ENST00000262467.5_Missense_Mutation_p.P161S|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000572272.1_Missense_Mutation_p.P161S|NLRP1_ENST00000354411.3_Missense_Mutation_p.P161S|NLRP1_ENST00000269280.4_Missense_Mutation_p.P161S|NLRP1_ENST00000577119.1_Missense_Mutation_p.P161S	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	161					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GGGGAGCTTGGAAGAGCTTGG	0.498000													9	14					0	0	1	0	0
GAPDHS	26330	broad.mit.edu	37	19	36035831	36035831	+	Silent	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:36035831C>G	ENST00000222286.4	+	10	1193	c.1077C>G	c.(1075-1077)ctC>ctG	p.L359L	AD000090.2_ENST00000588286.1_RNA|AD000090.2_ENST00000444728.1_RNA|AD000090.2_ENST00000590717.1_RNA|AD000090.2_ENST00000589137.1_RNA	NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	359					gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		NADH(DB00157)	CGGACTTCCTCGGTGATACCC	0.522000													26	86					0	0	1	0	0
DCBLD2	131566	broad.mit.edu	37	3	98568334	98568334	+	Missense_Mutation	SNP	A	A	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:98568334A>G	ENST00000326840.6	-	3	904	c.542T>C	c.(541-543)tTg>tCg	p.L181S	DCBLD2_ENST00000469648.1_5'UTR|DCBLD2_ENST00000326857.9_Missense_Mutation_p.L181S	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	181	CUB.				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						GTATGAGGCCAAAAATCCGCG	0.348000													24	97					0	0	1	0	0
SPAG16	79582	broad.mit.edu	37	2	215013944	215013944	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:215013944C>T	ENST00000331683.5	+	15	1769	c.1674C>T	c.(1672-1674)atC>atT	p.I558I	SPAG16_ENST00000374309.3_Silent_p.I464I	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	558					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TTGTGTCCATCGATATAGGTC	0.388000													26	151					0	0	1	0	0
IFNL2	282616	broad.mit.edu	37	19	39759480	39759480	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:39759480G>C	ENST00000331982.5	+	2	229	c.174G>C	c.(172-174)aaG>aaC	p.K58N		NM_172138.1	NP_742150.1			interferon, lambda 2																		AGGCCTTTAAGAGGGCCAAAG	0.617000													9	26					0	0	1	0	0
AFAP1	60312	broad.mit.edu	37	4	7870384	7870384	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:7870384G>C	ENST00000420658.1	-	3	462	c.190C>G	c.(190-192)Cag>Gag	p.Q64E	AFAP1_ENST00000360265.4_Missense_Mutation_p.Q64E|AFAP1_ENST00000382543.3_Missense_Mutation_p.Q64E|AFAP1_ENST00000358461.2_Missense_Mutation_p.Q64E	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	64	Pro-rich.					actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						AGGGGCATCTGAGGAGGGGCT	0.577000													12	40					0	0	1	0	0
NPHS2	7827	broad.mit.edu	37	1	179520354	179520354	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:179520354G>A	ENST00000367615.4	-	8	1174	c.1106C>T	c.(1105-1107)cCt>cTt	p.P369L	AXDND1_ENST00000367618.3_Intron|NPHS2_ENST00000367616.4_Missense_Mutation_p.P301L	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	369					excretion	integral to plasma membrane	protein binding			NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						TGGCTCAACAGGTTTGGAAGG	0.468000													24	59					0	0	1	0	0
AADAT	51166	broad.mit.edu	37	4	170983104	170983104	+	Nonsense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:170983104G>C	ENST00000337664.4	-	12	1451	c.1175C>G	c.(1174-1176)tCa>tGa	p.S392*	AADAT_ENST00000515480.1_Nonsense_Mutation_p.S392*|AADAT_ENST00000509167.1_Nonsense_Mutation_p.S396*|AADAT_ENST00000353187.2_Nonsense_Mutation_p.S392*	NM_016228.3	NP_057312.1	Q8N5Z0	AADAT_HUMAN	aminoadipate aminotransferase	392					2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process	mitochondrial matrix	2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GCTAGGAGCTGAGCTATCGAC	0.408000													19	80					0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219878634	219878634	+	Silent	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:219878634C>G	ENST00000341552.5	-	22	3818	c.3735G>C	c.(3733-3735)ggG>ggC	p.G1245G	CCDC108_ENST00000441968.1_Silent_p.G1245G|CCDC108_ENST00000453220.1_Silent_p.G1245G|AC097468.4_ENST00000441450.1_RNA	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1245						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GACTCAGGCTCCCAGCCTTGG	0.592000													10	35					0	0	1	0	0
RAB5C	5878	broad.mit.edu	37	17	40282382	40282382	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:40282382G>A	ENST00000393860.3	-	3	455	c.139C>T	c.(139-141)Cac>Tac	p.H47Y	CTD-2132N18.3_ENST00000592574.1_Missense_Mutation_p.H47Y|RAB5C_ENST00000346213.4_Missense_Mutation_p.H47Y|RAB5C_ENST00000547517.1_Missense_Mutation_p.H80Y	NM_201434.2	NP_958842.1	P51148	RAB5C_HUMAN	RAB5C, member RAS oncogene family	47					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GTP binding|GTPase activity|protein binding			large_intestine(1)|lung(4)|prostate(1)|skin(1)	7		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		TGGTACTCGTGAAACTGTCCC	0.547000													12	46					0	0	1	0	0
COX4I2	84701	broad.mit.edu	37	20	30227812	30227812	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:30227812C>G	ENST00000376075.3	+	3	234	c.159C>G	c.(157-159)ttC>ttG	p.F53L	COX4I2_ENST00000490030.1_3'UTR	NM_032609.2	NP_115998.2	Q96KJ9	COX42_HUMAN	cytochrome c oxidase subunit IV isoform 2 (lung)	53					cellular respiration		cytochrome-c oxidase activity			breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	11	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			AAGAGCCCTTCTGCACAGAAC	0.602000													40	42					0	0	1	0	0
LARS	51520	broad.mit.edu	37	5	145552278	145552278	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:145552278C>T	ENST00000394434.2	-	3	351	c.185G>A	c.(184-186)gGa>gAa	p.G62E	LARS_ENST00000274562.9_Missense_Mutation_p.G62E|LARS_ENST00000545646.1_Missense_Mutation_p.G62E|LARS_ENST00000511505.1_5'UTR|LARS_ENST00000510191.1_Missense_Mutation_p.G8E	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	62					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	AAACGTGTGTCCCAAATGAAG	0.353000													18	86					0	0	1	0	0
ANKLE2	23141	broad.mit.edu	37	12	133310989	133310989	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:133310989C>G	ENST00000539605.1	-	9	8371	c.1687G>C	c.(1687-1689)Gat>Cat	p.D563H	ANKLE2_ENST00000337516.5_Missense_Mutation_p.D625H|ANKLE2_ENST00000542374.1_5'UTR|ANKLE2_ENST00000357997.5_Missense_Mutation_p.D625H			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	625						cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		GTGGCTTTATCTCGGCAGGAG	0.562000													17	63					0	0	1	0	0
SAP130	79595	broad.mit.edu	37	2	128757382	128757382	+	Silent	SNP	A	A	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:128757382A>G	ENST00000357702.5	-	10	1355	c.1224T>C	c.(1222-1224)atT>atC	p.I408I	SAP130_ENST00000259235.3_Silent_p.I408I|SAP130_ENST00000259234.6_Silent_p.I382I	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	408					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TCATGGTAACAATGGTACTTG	0.478000													20	58					0	0	1	0	0
IKBKAP	8518	broad.mit.edu	37	9	111674550	111674550	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:111674550C>T	ENST00000374647.5	-	11	1490	c.1183G>A	c.(1183-1185)Gat>Aat	p.D395N	IKBKAP_ENST00000537196.1_Missense_Mutation_p.D46N	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	395					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TTACTTCCATCAATGACAGCC	0.537000													18	41					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7583022	7583022	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:7583022C>G	ENST00000379802.3	+	24	5868	c.5527C>G	c.(5527-5529)Cta>Gta	p.L1843V	DSP_ENST00000418664.2_Missense_Mutation_p.L1244V	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1843	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AAAATCAACTCTAGAGGCAGA	0.488000													20	109					0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120475341	120475341	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:120475341C>T	ENST00000355622.6	+	3	1036	c.935C>T	c.(934-936)tCa>tTa	p.S312L	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.S272L	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	312					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						AATGTTTCTTCATTTTCCCTG	0.328000													30	89					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20530631	20530631	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:20530631G>A	ENST00000504154.1	+	16	1774	c.1522G>A	c.(1522-1524)Gaa>Aaa	p.E508K	SLIT2_ENST00000273739.5_Missense_Mutation_p.E512K|SLIT2_ENST00000503837.1_Missense_Mutation_p.E504K|SLIT2_ENST00000503823.1_Missense_Mutation_p.E500K	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	508	LRRNT 3.				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						GGCTTGCCCTGAAAAGTGTCG	0.408000													22	123					0	0	1	0	0
MPDZ	8777	broad.mit.edu	37	9	13216801	13216801	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:13216801C>T	ENST00000319217.7	-	10	1509	c.1262G>A	c.(1261-1263)aGa>aAa	p.R421K	MPDZ_ENST00000381015.4_Missense_Mutation_p.R421K|MPDZ_ENST00000541718.1_Missense_Mutation_p.R421K|MPDZ_ENST00000546205.1_Missense_Mutation_p.R421K|MPDZ_ENST00000536827.1_Missense_Mutation_p.R421K|MPDZ_ENST00000447879.1_Missense_Mutation_p.R421K|MPDZ_ENST00000381022.2_Missense_Mutation_p.R421K	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	421	PDZ 3.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		AATTTGGATTCTTCCATCATG	0.313000													4	38					0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126542666	126542666	+	Silent	SNP	G	G	A	rs140268894	by1000genomes	TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:126542666G>A	ENST00000339582.2	-	6	1894	c.1086C>T	c.(1084-1086)ttC>ttT	p.F362F	GRM8_ENST00000358373.3_Silent_p.F362F|GRM8_ENST00000444921.2_Silent_p.F362F|GRM8_ENST00000405249.1_Silent_p.F362F|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	362			F -> Y.		negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TCTCCTCCCAGAATTCTGCAA	0.378000										HNSCC(24;0.065)			13	73					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195515449	195515449	+	Missense_Mutation	SNP	A	A	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:195515449A>T	ENST00000463781.3	-	2	3461	c.3002T>A	c.(3001-3003)gTa>gAa	p.V1001E	MUC4_ENST00000475231.1_Missense_Mutation_p.V1001E|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1006	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.V1001A(1)|p.V1001E(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACCTGTGGATACTGAGGAAGC	0.587000													3	10					0	0	1	0	0
ANKRD17	26057	broad.mit.edu	37	4	74010539	74010539	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:74010539G>C	ENST00000358602.4	-	11	1996	c.1880C>G	c.(1879-1881)tCt>tGt	p.S627C	ANKRD17_ENST00000509867.2_Missense_Mutation_p.S514C|ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000330838.6_Missense_Mutation_p.S627C	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	627					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TCCACCTTCAGATTCATGTTC	0.313000													21	70					0	0	1	0	0
C1orf112	55732	broad.mit.edu	37	1	169776935	169776935	+	Missense_Mutation	SNP	G	G	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:169776935G>T	ENST00000286031.6	+	8	1267	c.567G>T	c.(565-567)caG>caT	p.Q189H	C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000359326.4_Missense_Mutation_p.Q189H|C1orf112_ENST00000413811.2_Missense_Mutation_p.Q160H|C1orf112_ENST00000456684.1_Missense_Mutation_p.Q247H	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	189										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CATTTAGGCAGAGCCTTAAGC	0.323000													30	103					1.68575e-08	1.74944e-08	1	1	0
C4orf27	54969	broad.mit.edu	37	4	170663146	170663146	+	Nonsense_Mutation	SNP	C	C	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:170663146C>A	ENST00000393381.2	-	5	685	c.610G>T	c.(610-612)Gaa>Taa	p.E204*		NM_017867.2	NP_060337.2	Q9NWY4	CD027_HUMAN	chromosome 4 open reading frame 27	204						nucleus				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	12		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116)		GTTCTCTGTTCAAGCGAGTAC	0.358000													16	123					1.5739e-10	1.6509e-10	1	1	0
FOXB2	442425	broad.mit.edu	37	9	79634744	79634744	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:79634744G>A	ENST00000376708.1	+	1	174	c.174G>A	c.(172-174)caG>caA	p.Q58Q		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	58					brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|lung(8)|ovary(1)	10						AGCGCTGGCAGAACAGCCTGC	0.612000													8	38					0	0	1	0	0
FGFBP2	83888	broad.mit.edu	37	4	15964242	15964242	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:15964242C>G	ENST00000259989.6	-	1	617	c.511G>C	c.(511-513)Gag>Cag	p.E171Q	FGFBP2_ENST00000509331.1_Intron	NM_031950.3	NP_114156.1	Q9BYJ0	FGFP2_HUMAN	fibroblast growth factor binding protein 2	171						extracellular space	growth factor binding			central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						TTTCCCAGCTCTTCCATCGAG	0.597000													31	156					0	0	1	0	0
FIBIN	387758	broad.mit.edu	37	11	27016437	27016437	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:27016437G>A	ENST00000318627.2	+	1	810	c.364G>A	c.(364-366)Gag>Aag	p.E122K		NM_203371.1	NP_976249.1	Q8TAL6	FIBIN_HUMAN	fin bud initiation factor homolog (zebrafish)	122						extracellular region|Golgi apparatus				breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						CCTGCGGCGGGAGTCCCACCA	0.612000													20	52					0	0	1	0	0
ZNF135	7694	broad.mit.edu	37	19	58578450	58578450	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:58578450G>C	ENST00000506786.1	+	5	1026	c.472G>C	c.(472-474)Gac>Cac	p.D158H	ZNF135_ENST00000511556.1_Missense_Mutation_p.D212H|ZNF135_ENST00000359978.6_Missense_Mutation_p.D212H|ZNF135_ENST00000401053.4_Missense_Mutation_p.D224H|ZNF135_ENST00000313434.5_Missense_Mutation_p.D200H|ZNF135_ENST00000439855.2_Missense_Mutation_p.D200H			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	212					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		GGAGAAGCCAGACCTAAATGT	0.453000													14	82					0	0	1	0	0
TARBP1	6894	broad.mit.edu	37	1	234553865	234553865	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:234553865G>C	ENST00000040877.1	-	22	3669	c.3670C>G	c.(3670-3672)Caa>Gaa	p.Q1224E		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1224					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			GGAAGAAATTGAGGGAATTTA	0.274000													5	23					0	0	1	0	0
EPB41L1	2036	broad.mit.edu	37	20	34806809	34806809	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:34806809C>T	ENST00000338074.2	+	18	2441	c.2280C>T	c.(2278-2280)ctC>ctT	p.L760L	EPB41L1_ENST00000441639.1_Silent_p.L658L|EPB41L1_ENST00000373950.2_Silent_p.L651L|EPB41L1_ENST00000373941.1_Silent_p.L759L|EPB41L1_ENST00000373946.3_Silent_p.L580L|EPB41L1_ENST00000202028.5_Silent_p.L658L	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	760	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					AGAACAGTCTCAAGTCCGGGA	0.617000													5	28					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179641970	179641970	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:179641970C>T	ENST00000589042.1	-	27	4944	c.4720G>A	c.(4720-4722)Gaa>Aaa	p.E1574K	TTN_ENST00000460472.2_Missense_Mutation_p.E1528K|TTN_ENST00000342992.6_Missense_Mutation_p.E1574K|TTN_ENST00000360870.5_Missense_Mutation_p.E1574K|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E1528K|TTN_ENST00000591111.1_Missense_Mutation_p.E1574K|TTN_ENST00000359218.5_Missense_Mutation_p.E1528K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1309	Ig-like 7.						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)			ACTTTCATTTCAAGTCGGGAA	0.383000													31	108					0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3641259	3641259	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:3641259C>T	ENST00000294008.3	-	12	3020	c.2380G>A	c.(2380-2382)Gac>Aac	p.D794N		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	794	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CCCTCTGAGTCAGTGGCAATA	0.542000								Direct reversal of damage			OREG0032061	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	22	86					0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96591150	96591150	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:96591150G>C	ENST00000456556.1	-	30	2075	c.1991C>G	c.(1990-1992)tCt>tGt	p.S664C	ANKRD36C_ENST00000419039.2_5'UTR|ANKRD36C_ENST00000295246.5_5'UTR|ANKRD36C_ENST00000420871.2_5'UTR					ankyrin repeat domain 36C											breast(1)|endometrium(8)|kidney(5)|lung(4)	18						ATTCAAAAGAGAAACTTTCTT	0.299000													3	10					0	0	1	0	0
LRRC8C	84230	broad.mit.edu	37	1	90180458	90180458	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:90180458C>T	ENST00000370454.4	+	3	2584	c.2329C>T	c.(2329-2331)Ctg>Ttg	p.L777L	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	777						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		CTGTCGGGCTCTGAAGCGAGC	0.403000													29	67					0	0	1	0	0
PTCH1	5727	broad.mit.edu	37	9	98242255	98242255	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:98242255C>T	ENST00000430669.2	-	7	1450	c.865G>A	c.(865-867)Gtc>Atc	p.V289I	PTCH1_ENST00000331920.6_Missense_Mutation_p.V355I|PTCH1_ENST00000421141.1_Missense_Mutation_p.V204I|PTCH1_ENST00000437951.1_Missense_Mutation_p.V289I|PTCH1_ENST00000375274.2_Missense_Mutation_p.V354I|PTCH1_ENST00000418258.1_Missense_Mutation_p.V204I|PTCH1_ENST00000429896.2_Missense_Mutation_p.V204I			Q13635	PTC1_HUMAN	patched 1	355					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.V355fs*82(2)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GCTTACCTGACGAGTTTTCCA	0.468000													28	80					0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81593573	81593573	+	Nonsense_Mutation	SNP	C	C	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:81593573C>A	ENST00000356860.3	-	33	3015	c.2677G>T	c.(2677-2679)Gag>Tag	p.E893*	CACNA2D1_ENST00000535308.1_Nonsense_Mutation_p.E105*|CACNA2D1_ENST00000356253.5_Nonsense_Mutation_p.E905*	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	905						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	GCACCGGGCTCACATACTGAC	0.418000													5	107					0.000602214	0.000609144	1	1	0
TOM1	10043	broad.mit.edu	37	22	35729424	35729424	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr22:35729424G>A	ENST00000411850.1	+	10	1086	c.961G>A	c.(961-963)Gac>Aac	p.D321N	TOM1_ENST00000425375.1_Missense_Mutation_p.D276N|TOM1_ENST00000449058.2_Missense_Mutation_p.D321N|TOM1_ENST00000436462.2_Missense_Mutation_p.D283N|TOM1_ENST00000382034.5_3'UTR|TOM1_ENST00000447733.1_Missense_Mutation_p.D288N	NM_001135732.1	NP_001129204.1	O60784	TOM1_HUMAN	target of myb1 (chicken)	321					endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						GCCGGCAGCTGACCTGATCGA	0.622000													11	31					0	0	1	0	0
SESN1	27244	broad.mit.edu	37	6	109315691	109315691	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:109315691C>G	ENST00000436639.2	-	6	1839	c.1094G>C	c.(1093-1095)aGa>aCa	p.R365T	SESN1_ENST00000356644.7_Missense_Mutation_p.R306T|SESN1_ENST00000302071.2_Missense_Mutation_p.R240T	NM_014454.2	NP_055269.1	Q9Y6P5	SESN1_HUMAN	sestrin 1	306					cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		CATACTCTCTCTTTTTTCTAT	0.338000													31	113					0	0	1	0	0
DENND5A	23258	broad.mit.edu	37	11	9225277	9225277	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:9225277G>A	ENST00000328194.3	-	4	1199	c.879C>T	c.(877-879)ctC>ctT	p.L293L	DENND5A_ENST00000530044.1_Silent_p.L293L	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	293	DENN.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TCTCCACCCCGAGCAGTTCAA	0.463000													26	89					0	0	1	0	0
GRIPAP1	56850	broad.mit.edu	37	X	48846091	48846091	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:48846091C>T	ENST00000376423.4	-	10	675	c.643G>A	c.(643-645)Gaa>Aaa	p.E215K	GRIPAP1_ENST00000376441.1_Missense_Mutation_p.E268K|GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376444.3_Missense_Mutation_p.E223K|GRIPAP1_ENST00000376425.3_Missense_Mutation_p.E268K	NM_207672.1	NP_997555.1	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	268						early endosome				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						TGATCAGCTTCCTTCCGTTGT	0.552000													22	22					0	0	1	0	0
C7	730	broad.mit.edu	37	5	40979964	40979964	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:40979964C>T	ENST00000313164.9	+	17	2662	c.2303C>T	c.(2302-2304)tCa>tTa	p.S768L	C7_ENST00000494960.1_3'UTR	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	768	Complement control factor I module 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				CTGCCTGCCTCAGCTGAGAAA	0.463000													9	39					0	0	1	0	0
MMRN1	22915	broad.mit.edu	37	4	90857467	90857467	+	Nonsense_Mutation	SNP	C	C	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:90857467C>A	ENST00000394980.1	+	7	2955	c.2636C>A	c.(2635-2637)tCa>tAa	p.S879*	MMRN1_ENST00000508372.1_Nonsense_Mutation_p.S621*|MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Nonsense_Mutation_p.S879*			Q13201	MMRN1_HUMAN	multimerin 1	879					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TATTATATTTCAGTTAAAAAA	0.353000													11	77					3.86212e-05	3.92917e-05	1	1	0
CASK	8573	broad.mit.edu	37	X	41379816	41379816	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:41379816C>G	ENST00000318588.9	-	27	2668	c.2623G>C	c.(2623-2625)Gac>Cac	p.D875H	CASK_ENST00000378158.1_Missense_Mutation_p.D863H|CASK_ENST00000378163.1_Missense_Mutation_p.D880H|CASK_ENST00000378166.4_Missense_Mutation_p.D875H|CASK_ENST00000442742.2_Missense_Mutation_p.D852H|CASK_ENST00000361962.4_Missense_Mutation_p.D863H|CASK_ENST00000421587.2_Missense_Mutation_p.D851H|CASK-AS1_ENST00000451126.1_RNA			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	880	Guanylate kinase-like.				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						TGTAAGATGTCAGACTCCTTC	0.438000													24	38					0	0	1	0	0
PLAA	9373	broad.mit.edu	37	9	26905734	26905734	+	Silent	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:26905734C>G	ENST00000397292.3	-	14	2580	c.2163G>C	c.(2161-2163)ggG>ggC	p.G721G		NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	721	PUL.				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		ATTGGGCTTTCCCTTCAATGT	0.393000													25	95					0	0	1	0	0
SVIL	6840	broad.mit.edu	37	10	29822109	29822109	+	Missense_Mutation	SNP	G	G	A	rs142485178		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:29822109G>A	ENST00000375398.2	-	10	1636	c.1187C>T	c.(1186-1188)tCa>tTa	p.S396L	SVIL_ENST00000355867.4_Missense_Mutation_p.S396L|SVIL_ENST00000375400.3_Intron			O95425	SVIL_HUMAN	supervillin	396					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CTGGGTGGCTGATGCTACCCA	0.542000													19	68					0	0	1	0	0
HIST1H2BH	8345	broad.mit.edu	37	6	26251911	26251911	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:26251911G>A	ENST00000356350.2	+	1	33	c.33G>A	c.(31-33)ccG>ccA	p.P11P		NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	11					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						CTCCCGCCCCGAAGAAGGGCT	0.532000													27	95					0	0	1	0	0
MROH7	374977	broad.mit.edu	37	1	55139799	55139799	+	Silent	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:55139799C>G	ENST00000414150.2	+	10	2189	c.1911C>G	c.(1909-1911)ctC>ctG	p.L637L	MROH7_ENST00000409996.1_Silent_p.L205L|MROH7_ENST00000395690.2_Silent_p.L637L|MROH7_ENST00000545244.1_Silent_p.L205L|MROH7_ENST00000454855.2_Silent_p.L155L|MROH7_ENST00000421030.2_Silent_p.L637L|MROH7_ENST00000339553.5_Silent_p.L637L					maestro heat-like repeat family member 7																		TCATCATCCTCTACACTATTC	0.507000													32	97					0	0	1	0	0
UBE4A	9354	broad.mit.edu	37	11	118250276	118250276	+	Nonsense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:118250276C>T	ENST00000252108.3	+	11	1818	c.1687C>T	c.(1687-1689)Cga>Tga	p.R563*	UBE4A_ENST00000431736.2_Nonsense_Mutation_p.R570*|UBE4A_ENST00000545354.1_Nonsense_Mutation_p.R35*	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	563					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)		GCAGTTTGAACGACTGATGAC	0.483000													25	71					0	0	1	0	0
INTS9	55756	broad.mit.edu	37	8	28651413	28651413	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr8:28651413G>A	ENST00000416984.2	-	9	1244	c.885C>T	c.(883-885)atC>atT	p.I295I	INTS9_ENST00000397363.4_Silent_p.I210I|INTS9_ENST00000521777.1_Silent_p.I292I|INTS9_ENST00000521022.1_Silent_p.I316I	NM_001145159.2	NP_001138631.1	Q9NV88	INT9_HUMAN	integrator complex subunit 9	316					snRNA processing	integrator complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		CGGCTGAGTCGATGTACTGAT	0.527000													20	72					0	0	1	0	0
MRPS16	51021	broad.mit.edu	37	10	75011546	75011546	+	Silent	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:75011546G>C	ENST00000372945.3	-	2	459	c.249C>G	c.(247-249)ctC>ctG	p.L83L	MRPS16_ENST00000372940.3_Silent_p.L83L|DNAJC9-AS1_ENST00000440197.2_RNA|MRPS16_ENST00000416782.2_Silent_p.L83L|MRPS16_ENST00000479005.1_5'UTR	NM_016065.3	NP_057149.1	Q9Y3D3	RT16_HUMAN	mitochondrial ribosomal protein S16	83					translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			large_intestine(2)|lung(2)	4	Prostate(51;0.0119)					TAGGCTTAGAGAGGTGGGCCC	0.493000													61	151					0	0	1	0	0
UBXN8	7993	broad.mit.edu	37	8	30614307	30614307	+	RNA	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr8:30614307C>G	ENST00000519246.1	+	0	630							O00124	UBXN8_HUMAN	UBX domain protein 8						single fertilization					central_nervous_system(1)|lung(2)	3						AGTCAGACATCTTTTGAAACA	0.388000													23	57					0	0	1	0	0
CTAGE1	64693	broad.mit.edu	37	18	19997264	19997264	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr18:19997264C>T	ENST00000391403.2	-	1	614	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	171						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					AACCGTTCTTCATTCGCTTGA	0.388000													48	167					0	0	1	0	0
DPY19L2P3	442524	broad.mit.edu	37	7	29727012	29727012	+	RNA	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:29727012G>A	ENST00000602980.1	+	0	830					NR_036482.1																						TCAAAGCTGTGAAGGCATGTT	0.313000													20	111					0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20404156	20404156	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr14:20404156G>A	ENST00000285600.4	+	1	390	c.331G>A	c.(331-333)Gag>Aag	p.E111K		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TGTTGGGAGTGAGATGATGTT	0.423000													34	367					0	0	1	0	0
SDR39U1	56948	broad.mit.edu	37	14	24911433	24911433	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr14:24911433C>G	ENST00000399395.3	-	3	190	c.157G>C	c.(157-159)Gat>Cat	p.D53H	SDR39U1_ENST00000554698.1_5'UTR|SDR39U1_ENST00000553930.1_5'UTR|SDR39U1_ENST00000555365.1_Intron|SDR39U1_ENST00000538105.2_Silent_p.A11A	NM_020195.2	NP_064580.2	Q9NRG7	D39U1_HUMAN	short chain dehydrogenase/reductase family 39U, member 1	79							binding			NS(1)|central_nervous_system(1)|large_intestine(2)|pancreas(1)	5						ACGGCGGCATCGCAGCTCGGC	0.662000													3	7					0	0	1	0	0
EXOC3L2	90332	broad.mit.edu	37	19	45735089	45735089	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:45735089C>G	ENST00000413988.1	-	2	62	c.22G>C	c.(22-24)Gag>Cag	p.E8Q	EXOC3L2_ENST00000252482.3_Missense_Mutation_p.E8Q	NM_138568.3	NP_612635.3	Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	8										endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		GGCCCCAGCTCCCCATTCTCC	0.587000													8	32					0	0	1	0	0
ZHX2	22882	broad.mit.edu	37	8	123963934	123963934	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr8:123963934G>C	ENST00000314393.4	+	3	1019	c.184G>C	c.(184-186)Gag>Cag	p.E62Q		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	62						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CGAAGTGATAGAGGTGAAATC	0.493000													10	30					0	0	1	0	0
ZC2HC1A	51101	broad.mit.edu	37	8	79601465	79601465	+	Missense_Mutation	SNP	C	C	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr8:79601465C>A	ENST00000263849.4	+	5	463	c.361C>A	c.(361-363)Caa>Aaa	p.Q121K	ZC2HC1A_ENST00000521176.1_3'UTR	NM_016010.2	NP_057094.2	Q96GY0	F164A_HUMAN	zinc finger, C2HC-type containing 1A	121																	AGATTATATTCAATGTCCATA	0.294000													19	87					8.34094e-07	8.58511e-07	1	1	0
KCNH8	131096	broad.mit.edu	37	3	19322798	19322798	+	Missense_Mutation	SNP	T	T	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:19322798T>C	ENST00000328405.2	+	3	685	c.419T>C	c.(418-420)aTt>aCt	p.I140T		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	140	PAC.					integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						AAAGTGAAGATTACTCCAGAA	0.323000													33	96					0	0	1	0	0
CCDC146	57639	broad.mit.edu	37	7	76797037	76797037	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:76797037G>A	ENST00000285871.4	+	2	179	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	CCDC146_ENST00000431197.1_5'UTR|RP11-467H10.2_ENST00000459742.1_RNA	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	18										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				GGAGAAAGATGAAAAGGATCA	0.358000													7	72					0	0	1	0	0
SLC9A5	6553	broad.mit.edu	37	16	67293509	67293509	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:67293509C>T	ENST00000299798.11	+	11	1725	c.1660C>T	c.(1660-1662)Ctg>Ttg	p.L554L		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	554					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		AGGTCTCACTCTGCCTTCTAT	0.552000													12	46					0	0	1	0	0
IL21	59067	broad.mit.edu	37	4	123542073	123542073	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:123542073G>A	ENST00000264497.3	-	1	151	c.94C>T	c.(94-96)Caa>Taa	p.Q32*	IL21-AS1_ENST00000417927.1_RNA	NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN	interleukin 21	25					cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction	extracellular space	cytokine activity|interleukin-2 receptor binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						TGGCGATCTTGACCTTGGGAG	0.408000													38	101					0	0	1	0	0
HDLBP	3069	broad.mit.edu	37	2	242170210	242170210	+	Silent	SNP	G	G	A	rs11555546		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:242170210G>A	ENST00000391975.1	-	25	3665	c.3438C>T	c.(3436-3438)cgC>cgT	p.R1146R	HDLBP_ENST00000391976.2_Silent_p.R1146R|HDLBP_ENST00000427183.2_Silent_p.R1113R|HDLBP_ENST00000310931.4_Silent_p.R1146R	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	1146	KH 14.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		TGGCTTTGCCGCGGGCACCAA	0.582000													14	38					0	0	1	0	0
CYP4A22	284541	broad.mit.edu	37	1	47614436	47614436	+	Silent	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:47614436C>G	ENST00000371891.3	+	12	1558	c.1527C>G	c.(1525-1527)ctC>ctG	p.L509L	CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000371890.3_Silent_p.L411L|CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	509			L -> F (in allele CYP4A22*7, allele CYP4A22*10, allele CYP4A22*11, allele CYP4A22*13, allele CYP4A22*14 and allele CYP4A22*15; dbSNP:rs4926600).			endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCAGGAGGCTCCCTAACCCTT	0.567000													16	32					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238287348	238287348	+	Missense_Mutation	SNP	G	G	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:238287348G>T	ENST00000295550.4	-	6	2880	c.2428C>A	c.(2428-2430)Cag>Aag	p.Q810K	COL6A3_ENST00000353578.4_Missense_Mutation_p.Q604K|COL6A3_ENST00000392003.2_Missense_Mutation_p.Q403K|COL6A3_ENST00000392004.3_Missense_Mutation_p.Q604K|COL6A3_ENST00000409809.1_Missense_Mutation_p.Q604K|COL6A3_ENST00000347401.3_Missense_Mutation_p.Q609K|COL6A3_ENST00000346358.4_Intron|COL6A3_ENST00000472056.1_Intron	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	810	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)		ATCAGCTGCTGAGGCAAAGCT	0.542000													21	62					3.51602e-12	3.70573e-12	1	1	0
PDZRN4	29951	broad.mit.edu	37	12	41967558	41967558	+	Missense_Mutation	SNP	A	A	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:41967558A>G	ENST00000298919.7	+	10	2585	c.2197A>G	c.(2197-2199)Aaa>Gaa	p.K733E	PDZRN4_ENST00000539469.2_Missense_Mutation_p.K735E|PDZRN4_ENST00000402685.2_Missense_Mutation_p.K993E			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	993							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				ACTGAGTCACAAAAAGATGAT	0.463000													6	32					0	0	1	0	0
RFX7	64864	broad.mit.edu	37	15	56388290	56388290	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:56388290C>T	ENST00000423270.1	-	9	1635	c.1636G>A	c.(1636-1638)Gat>Aat	p.D546N	RFX7_ENST00000422057.1_Missense_Mutation_p.D449N|RFX7_ENST00000559447.2_Missense_Mutation_p.D449N|RFX7_ENST00000317318.6_Missense_Mutation_p.D546N	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	449					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GGATGCTCATCTGATGATGTT	0.527000													12	44					0	0	1	0	0
GPN1	11321	broad.mit.edu	37	2	27861751	27861751	+	Splice_Site	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:27861751G>C	ENST00000264718.3	+	9	633		c.e9-1		GPN1_ENST00000407583.3_Splice_Site|GPN1_ENST00000503738.1_Splice_Site|GPN1_ENST00000515877.1_Splice_Site|GPN1_ENST00000461249.1_Splice_Site|GPN1_ENST00000424214.1_Splice_Site|GPN1_ENST00000458167.2_Splice_Site	NM_007266.3	NP_009197.2	Q9HCN4	GPN1_HUMAN	GPN-loop GTPase 1							cytoplasm	GTP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|large_intestine(1)|lung(12)	14						CTCTGGTACAGACTGACATCA	0.388000													12	59					0	0	1	0	0
DTX3	196403	broad.mit.edu	37	12	58002910	58002910	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:58002910G>A	ENST00000548198.1	+	5	2523	c.1019G>A	c.(1018-1020)aGa>aAa	p.R340K	DTX3_ENST00000337737.3_Missense_Mutation_p.R340K|DTX3_ENST00000548804.1_Missense_Mutation_p.R340K|DTX3_ENST00000551632.1_Missense_Mutation_p.R343K			Q8N9I9	DTX3_HUMAN	deltex homolog 3 (Drosophila)	340					Notch signaling pathway	cytoplasm	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					GAGGAGCTGAGAGCGAAGGGT	0.557000													8	50					0	0	1	0	0
PGBD4	161779	broad.mit.edu	37	15	34395296	34395296	+	Silent	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:34395296C>G	ENST00000397766.2	+	1	1023	c.564C>G	c.(562-564)ctC>ctG	p.L188L		NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	188										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		CACCTTATCTCAGGCAAATTA	0.388000													55	157					0	0	1	0	0
PITPNM3	83394	broad.mit.edu	37	17	6371598	6371598	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:6371598G>A	ENST00000262483.8	-	14	1924	c.1837C>T	c.(1837-1839)Cct>Tct	p.P613S	ACKR6_ENST00000421306.3_Missense_Mutation_p.P577S|ACKR6_ENST00000576664.1_5'UTR	NM_031220.3	NP_112497.2																					GGGTTGGCAGGACTCAGTGCT	0.622000													16	42					0	0	1	0	0
SFTPB	6439	broad.mit.edu	37	2	85892750	85892750	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:85892750C>T	ENST00000393822.3	-	6	696	c.597G>A	c.(595-597)gcG>gcA	p.A199A	SFTPB_ENST00000519937.2_Silent_p.A187A|SFTPB_ENST00000409383.1_Silent_p.A199A|SFTPB_ENST00000342375.3_Silent_p.A187A			P07988	PSPB_HUMAN	surfactant protein B	187					organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						GCCCAGGCCTCGCCTGGAGGG	0.677000													27	56					0	0	1	0	0
SDHB	6390	broad.mit.edu	37	1	17371298	17371298	+	Missense_Mutation	SNP	C	C	G	rs34916635	byFrequency	TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:17371298C>G	ENST00000375499.3	-	2	308	c.158G>C	c.(157-159)gGa>gCa	p.G53A	SDHB_ENST00000466613.1_5'UTR	NM_003000.2	NP_002991.2	P21912	DHSB_HUMAN	succinate dehydrogenase complex, subunit B, iron sulfur (Ip)	53	2Fe-2S ferredoxin-type.		G -> R (in pheochromocytoma).		respiratory electron transport chain|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	2 iron, 2 sulfur cluster binding|3 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|protein binding|succinate dehydrogenase (ubiquinone) activity|ubiquinone binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	10		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0049)|COAD - Colon adenocarcinoma(227;1.18e-05)|BRCA - Breast invasive adenocarcinoma(304;2.41e-05)|Kidney(64;0.000188)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)	Succinic acid(DB00139)	AGGTTTGTCTCCAGCCTTGTC	0.453000			"""Mis, N, F"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome				12	75					0	0	1	0	0
NFE2L2	4780	broad.mit.edu	37	2	178095961	178095961	+	Missense_Mutation	SNP	T	T	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:178095961T>C	ENST00000397062.3	-	5	1924	c.1370A>G	c.(1369-1371)gAt>gGt	p.D457G	NFE2L2_ENST00000464747.1_Missense_Mutation_p.D441G|NFE2L2_ENST00000397063.4_Missense_Mutation_p.D441G|NFE2L2_ENST00000446151.2_Missense_Mutation_p.D434G	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	457					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			CCTAAGTTCATCTCTTGTGAG	0.433000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			59	177					0	0	1	0	0
INSR	3643	broad.mit.edu	37	19	7267738	7267738	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:7267738G>A	ENST00000341500.5	-	2	309	c.270C>T	c.(268-270)ctC>ctT	p.L90L	INSR_ENST00000302850.5_Silent_p.L90L	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	90					activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGACCCGGAAGAGCAGCAAGT	0.512000													13	87					0	0	1	0	0
CBLB	868	broad.mit.edu	37	3	105586266	105586266	+	Silent	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:105586266G>C	ENST00000264122.4	-	2	477	c.156C>G	c.(154-156)ctC>ctG	p.L52L	CBLB_ENST00000545639.1_Silent_p.L74L|CBLB_ENST00000405772.1_Silent_p.L52L|CBLB_ENST00000403724.1_Silent_p.L52L|CBLB_ENST00000394027.3_Silent_p.L74L	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	52	4H.|Cbl-PTB.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						CTTTGTCCATGAGCTTCCAAG	0.438000			Mis S		AML								33	159					0	0	1	0	0
SCUBE1	80274	broad.mit.edu	37	22	43606202	43606202	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr22:43606202C>T	ENST00000360835.3	-	19	2554	c.2428G>A	c.(2428-2430)Gag>Aag	p.E810K		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	810	CUB.				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				TTGGGGGACTCGATGTAGCCG	0.657000													6	40					0	0	1	0	0
HERC2P9	440248	broad.mit.edu	37	15	28929356	28929356	+	RNA	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:28929356C>G	ENST00000528584.1	+	0	1893					NR_036443.1																						CAGAGATTCTCATTGGGAAGG	0.423000													4	16					0	0	1	0	0
CKS1B	1163	broad.mit.edu	37	1	154947273	154947273	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:154947273G>C	ENST00000368436.1	+	1	115	c.52G>C	c.(52-54)Gag>Cag	p.E18Q	CKS1B_ENST00000308987.5_Missense_Mutation_p.E18Q|CKS1B_ENST00000368439.1_5'UTR			P61024	CKS1_HUMAN	CDC28 protein kinase regulatory subunit 1B	18					cell division|cell proliferation|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	nucleoplasm	cyclin-dependent protein kinase regulator activity|protein binding	p.E18Q(1)		breast(1)|large_intestine(1)|lung(1)	3	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CGAGGAGTTTGAGTATCGGTT	0.532000													10	36					0	0	1	0	0
SPG7	6687	broad.mit.edu	37	16	89590511	89590511	+	Silent	SNP	C	C	T	rs139742860	byFrequency	TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:89590511C>T	ENST00000268704.2	+	4	489	c.474C>T	c.(472-474)ctC>ctT	p.L158L	SPG7_ENST00000341316.2_Silent_p.L158L	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	158					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		TGAATGCTCTCAGCACCAGCG	0.632000													27	57					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16260241	16260241	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:16260241C>G	ENST00000375759.3	+	11	7710	c.7506C>G	c.(7504-7506)atC>atG	p.I2502M		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2502	Pro-rich.|RID.				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)		CAGAGTGGATCACAAGGCAGG	0.587000													45	127					0	0	1	0	0
SMARCA2	6595	broad.mit.edu	37	9	2186186	2186186	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:2186186G>A	ENST00000382203.1	+	32	4761	c.4552G>A	c.(4552-4554)Gaa>Aaa	p.E1518K	SMARCA2_ENST00000382185.1_Missense_Mutation_p.E164K|SMARCA2_ENST00000382194.1_Missense_Mutation_p.E1500K|SMARCA2_ENST00000302401.3_Missense_Mutation_p.E206K|SMARCA2_ENST00000357248.2_Missense_Mutation_p.E1500K|SMARCA2_ENST00000382186.1_Missense_Mutation_p.E182K|SMARCA2_ENST00000349721.2_Missense_Mutation_p.E1518K|SMARCA2_ENST00000324954.5_Missense_Mutation_p.E164K			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1518	Poly-Glu.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		tgaaagcaatgaagaggagga	0.483000													20	222					0	0	1	0	0
NAA25	80018	broad.mit.edu	37	12	112509855	112509855	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:112509855C>T	ENST00000261745.4	-	10	1128	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	294						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						TAATGTACTTCTCCTTCTAAA	0.383000													14	69					0	0	1	0	0
TASP1	55617	broad.mit.edu	37	20	13371100	13371100	+	Splice_Site	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:13371100C>T	ENST00000337743.4	-	14	1291		c.e14-1		TASP1_ENST00000480436.1_Splice_Site|TASP1_ENST00000539805.1_Splice_Site	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1						asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						AAATGTGAGTCTGCAGAGAGA	0.572000													6	40					0	0	1	0	0
NUMA1	4926	broad.mit.edu	37	11	71724588	71724588	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:71724588G>A	ENST00000393695.3	-	15	4292	c.3961C>T	c.(3961-3963)Cgt>Tgt	p.R1321C	NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Missense_Mutation_p.R1321C	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1321					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TCCTCCGCACGCTCAGCCTGT	0.627000			T	RARA	APL								13	33					0	0	1	0	0
ITIH1	3697	broad.mit.edu	37	3	52823859	52823859	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:52823859G>A	ENST00000273283.2	+	19	2334	c.2310G>A	c.(2308-2310)ctG>ctA	p.L770L	ITIH1_ENST00000540715.1_Silent_p.L628L|ITIH1_ENST00000542827.1_3'UTR|ITIH1_ENST00000537050.1_Silent_p.L482L|ITIH1_ENST00000405128.3_Silent_p.L136L	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	770	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		AAGCTGTGCTGCGGCAGGACG	0.632000													22	55					0	0	1	0	0
IRF2	3660	broad.mit.edu	37	4	185309983	185309983	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:185309983C>T	ENST00000393593.3	-	9	1186	c.979G>A	c.(979-981)Gac>Aac	p.D327N		NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	327					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		GTCTCCCGGTCTGGCCGACTG	0.597000													25	73					0	0	1	0	0
CFHR1	3078	broad.mit.edu	37	1	196794654	196794654	+	Nonsense_Mutation	SNP	G	G	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:196794654G>T	ENST00000320493.5	+	2	194	c.106G>T	c.(106-108)Gaa>Taa	p.E36*	CFHR1_ENST00000498248.1_3'UTR|CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000367424.3_Nonsense_Mutation_p.E36*	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	36	Sushi 1.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						TCTATATGATGAAGAAAAATA	0.294000													9	20					2.17888e-05	2.21927e-05	1	1	0
PMPCB	9512	broad.mit.edu	37	7	102937969	102937969	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:102937969C>T	ENST00000249269.4	+	1	101	c.63C>T	c.(61-63)ttC>ttT	p.F21F	PMPCB_ENST00000428154.1_Silent_p.F21F|PMPCB_ENST00000420236.2_5'UTR	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	21					proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCTGGGGTTTCAGCGAGAGTC	0.647000											OREG0018240	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	25					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186088921	186088921	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:186088921C>T	ENST00000271588.4	+	79	12230	c.12001C>T	c.(12001-12003)Ctg>Ttg	p.L4001L	HMCN1_ENST00000367492.2_Silent_p.L4001L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4001	Ig-like C2-type 39.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ACACGTCATTCTGAACAATCC	0.383000													26	78					0	0	1	0	0
SKIV2L	6499	broad.mit.edu	37	6	31927109	31927109	+	Silent	SNP	C	C	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:31927109C>A	ENST00000375394.2	+	2	171	c.58C>A	c.(58-60)Cgg>Agg	p.R20R	SKIV2L_ENST00000488648.1_3'UTR|SKIV2L_ENST00000544581.1_5'UTR	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	20						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CCTACCCCTTCGGGCCGTGGA	0.572000													86	298					1.38319e-45	1.49181e-45	1	1	0
ZNF396	252884	broad.mit.edu	37	18	32953515	32953515	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr18:32953515G>A	ENST00000306346.1	-	3	598	c.467C>T	c.(466-468)tCa>tTa	p.S156L	ZNF396_ENST00000586687.1_Missense_Mutation_p.S156L|ZNF396_ENST00000589332.1_Missense_Mutation_p.S156L	NM_145756.2	NP_665699.1	Q96N95	ZN396_HUMAN	zinc finger protein 396	156					viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	7						AGTGATTTCTGAAGGTGCTAG	0.473000													24	57					0	0	1	0	0
NUTM2G	441457	broad.mit.edu	37	9	99700176	99700176	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:99700176G>A	ENST00000354649.3	+	6	2048	c.1333G>A	c.(1333-1335)Gtc>Atc	p.V445I	NUTM2G_ENST00000372322.3_Missense_Mutation_p.V445I|HIATL2_ENST00000506067.1_Intron	NM_001045477.2	NP_001038942.1			NUT family member 2G																		GGTGGAGGCCGTCATTCACCC	0.567000													26	125					0	0	1	0	0
MAP2K4	6416	broad.mit.edu	37	17	12016649	12016649	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:12016649G>A	ENST00000415385.3	+	8	871	c.818G>A	c.(817-819)aGa>aAa	p.R273K	MAP2K4_ENST00000353533.5_Missense_Mutation_p.R262K			P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	262	Protein kinase.				cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		GCCAAGACAAGAGATGCTGGC	0.463000			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""								25	51					0	0	1	0	0
MYBPC2	4606	broad.mit.edu	37	19	50962508	50962508	+	Silent	SNP	G	G	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:50962508G>T	ENST00000357701.5	+	23	2787	c.2736G>T	c.(2734-2736)ctG>ctT	p.L912L		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	912	Ig-like C2-type 6.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		AGTACGAGCTGAGCGTGCAGA	0.706000													9	39					0.0809354	0.0813984	1	1	0
NIPBL	25836	broad.mit.edu	37	5	36955632	36955632	+	Silent	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:36955632C>G	ENST00000282516.8	+	3	622	c.123C>G	c.(121-123)ctC>ctG	p.L41L	NIPBL_ENST00000448238.2_Silent_p.L41L	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	41					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)			AGAGCCTTCTCTTTAATGCAC	0.413000													26	121					0	0	1	0	0
RBBP8	5932	broad.mit.edu	37	18	20581637	20581637	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr18:20581637C>T	ENST00000399722.2	+	15	2583	c.2232C>T	c.(2230-2232)ttC>ttT	p.F744F	RBBP8_ENST00000360790.5_Silent_p.F749F|RBBP8_ENST00000399725.2_Silent_p.F744F|RBBP8_ENST00000327155.5_Silent_p.F744F	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	744					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			CAGACAGTTTCTCCCAAGCAG	0.363000								Homologous recombination					29	116					0	0	1	0	0
NMUR1	10316	broad.mit.edu	37	2	232393418	232393418	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:232393418G>A	ENST00000305141.4	-	2	447	c.314C>T	c.(313-315)tCg>tTg	p.S105L		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	105					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CAGCAGGTCCGACACGGCCAG	0.632000													23	66					0	0	1	0	0
SLC23A3	151295	broad.mit.edu	37	2	220032949	220032949	+	Nonsense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:220032949G>C	ENST00000396775.3	-	5	694	c.410C>G	c.(409-411)tCa>tGa	p.S137*	SLC23A3_ENST00000409878.3_Missense_Mutation_p.H256D|SLC23A3_ENST00000295738.7_Silent_p.L245L|SLC23A3_ENST00000455516.2_Missense_Mutation_p.H264D			Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3	288					transmembrane transport	integral to membrane	protein binding|transporter activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGAGGAGTGTGAGTTGATGAC	0.587000													9	30					0	0	1	0	0
SLCO4A1	28231	broad.mit.edu	37	20	61288183	61288183	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:61288183C>G	ENST00000217159.1	+	2	582	c.377C>G	c.(376-378)aCa>aGa	p.T126R	SLCO4A1_ENST00000370507.1_Missense_Mutation_p.T126R	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	126					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			TTCATCAACACAGTCATCACC	0.617000													13	69					0	0	1	0	0
OR5D18	219438	broad.mit.edu	37	11	55587921	55587921	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:55587921C>T	ENST00000333976.4	+	1	836	c.816C>T	c.(814-816)gtC>gtT	p.V272V		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				GGCACACAGTCAAAGTGGCCT	0.498000													26	81					0	0	1	0	0
APH1A	51107	broad.mit.edu	37	1	150241120	150241120	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:150241120G>A	ENST00000360244.4	-	1	583	c.91C>T	c.(91-93)Cgc>Tgc	p.R31C	C1orf54_ENST00000369102.1_5'UTR|APH1A_ENST00000461320.1_5'UTR|APH1A_ENST00000414276.2_Missense_Mutation_p.R31C|APH1A_ENST00000369109.3_Missense_Mutation_p.R31C	NM_016022.3	NP_057106.2	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit	31					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane	protein binding			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATGATAACGCGAAGCGGGTCC	0.647000													6	20					0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105926435	105926435	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:105926435C>G	ENST00000357060.3	-	23	2965	c.2850G>C	c.(2848-2850)ttG>ttC	p.L950F	WDR96_ENST00000428666.1_Missense_Mutation_p.L951F	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	950										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCTGTTTAATCAACTTAACTC	0.383000													41	127					0	0	1	0	0
SPNS1	83985	broad.mit.edu	37	16	28992821	28992821	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:28992821C>T	ENST00000311008.11	+	6	1071	c.694C>T	c.(694-696)Ctg>Ttg	p.L232L	RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000565975.1_Silent_p.L277L|SPNS1_ENST00000334536.8_Silent_p.L232L|SPNS1_ENST00000352260.7_Silent_p.L210L|SPNS1_ENST00000323081.8_Silent_p.L159L|SPNS1_ENST00000561868.1_3'UTR	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	232					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						GGTGGCCGTTCTGCTGCTGTT	0.632000											OREG0023712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	44					0	0	1	0	0
POGZ	23126	broad.mit.edu	37	1	151400332	151400332	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:151400332G>C	ENST00000271715.2	-	7	1359	c.1045C>G	c.(1045-1047)Caa>Gaa	p.Q349E	POGZ_ENST00000531094.1_Missense_Mutation_p.Q287E|POGZ_ENST00000540984.1_Intron|POGZ_ENST00000361398.3_Missense_Mutation_p.Q296E|POGZ_ENST00000368863.2_Missense_Mutation_p.Q254E|POGZ_ENST00000392723.1_Missense_Mutation_p.Q296E|POGZ_ENST00000491586.1_Missense_Mutation_p.Q296E|POGZ_ENST00000409503.1_Missense_Mutation_p.Q340E	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	349					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CTGGTTCTTTGAGAGCCATGA	0.468000													12	41					0	0	1	0	0
CTAGE1	64693	broad.mit.edu	37	18	19996130	19996130	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr18:19996130C>T	ENST00000391403.2	-	1	1748	c.1645G>A	c.(1645-1647)Gat>Aat	p.D549N		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	549						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					GTTAACCTATCACAGCTTGAT	0.547000													33	97					0	0	1	0	0
EIF4G2	1982	broad.mit.edu	37	11	10823243	10823243	+	Silent	SNP	G	G	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:10823243G>T	ENST00000526148.1	-	14	1888	c.1378C>A	c.(1378-1380)Cgg>Agg	p.R460R	EIF4G2_ENST00000396525.2_Intron|EIF4G2_ENST00000525681.1_Silent_p.R460R|EIF4G2_ENST00000339995.5_Silent_p.R460R	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	460					cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TTAGAAAACCGAGGTGGCATA	0.423000													36	112					4.00102e-26	4.29938e-26	1	1	0
SLC35D1	23169	broad.mit.edu	37	1	67507963	67507963	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:67507963G>A	ENST00000235345.5	-	8	770	c.685C>T	c.(685-687)Ctg>Ttg	p.L229L	SLC35D1_ENST00000506472.2_Silent_p.L150L	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	229					chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10					Lorazepam(DB00186)	AGGGTGGGCAGAATCATGAAC	0.398000													53	204					0	0	1	0	0
CHRND	1144	broad.mit.edu	37	2	233393663	233393663	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:233393663G>A	ENST00000258385.3	+	6	633	c.601G>A	c.(601-603)Gat>Aat	p.D201N	CHRND_ENST00000543200.1_Missense_Mutation_p.D186N|CHRND_ENST00000457943.2_Intron|CHRND_ENST00000536614.1_Intron	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	201					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		GATCATCATTGATCCTGAAGG	0.587000													19	45					0	0	1	0	0
NAGK	55577	broad.mit.edu	37	2	71305524	71305524	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:71305524G>A	ENST00000418807.3	+	9	932	c.768G>A	c.(766-768)ctG>ctA	p.L256L	NAGK_ENST00000455662.2_Silent_p.L353L|NAGK_ENST00000244204.5_Silent_p.L307L			Q9UJ70	NAGK_HUMAN	N-acetylglucosamine kinase	307					N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process		ATP binding|N-acetylglucosamine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1)	18					N-Acetyl-D-glucosamine(DB00141)	TGATGAAGCTGAGGCACTCCT	0.587000													11	32					0	0	1	0	0
PRR25	388199	broad.mit.edu	37	16	855650	855650	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:855650C>G	ENST00000301698.1	+	1	208	c.208C>G	c.(208-210)Cac>Gac	p.H70D		NM_001013638.1	NP_001013660.1	Q96S07	PRR25_HUMAN	proline rich 25	70										large_intestine(1)|lung(1)|skin(1)	3						GGCCGGCACTCACTTCCTGGC	0.627000													8	32					0	0	1	0	0
LRRC8C	84230	broad.mit.edu	37	1	90178873	90178873	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:90178873C>T	ENST00000370454.4	+	3	999	c.744C>T	c.(742-744)ttC>ttT	p.F248F	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	248						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		TGAAGAAGTTCAGGCTGCATG	0.403000													44	171					0	0	1	0	0
EFCAB13	124989	broad.mit.edu	37	17	45419396	45419396	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:45419396G>A	ENST00000331493.2	+	6	712	c.301G>A	c.(301-303)Gag>Aag	p.E101K	ITGB3_ENST00000560629.1_3'UTR|EFCAB13_ENST00000517484.1_Missense_Mutation_p.E101K|ITGB3_ENST00000435993.2_3'UTR	NM_152347.4	NP_689560.3			EF-hand calcium binding domain 13																		TAAAAGAACTGAGGTAAATAA	0.313000													10	44					0	0	1	0	0
CDCP2	200008	broad.mit.edu	37	1	54618586	54618586	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:54618586C>G	ENST00000371330.1	-	1	857	c.10G>C	c.(10-12)Gag>Cag	p.E4Q	RP11-446E24.4_ENST00000311841.7_3'UTR|RP11-446E24.4_ENST00000525949.1_Intron	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	4						extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						GCCCCCCACTCTGCCAGCATC	0.637000													17	74					0	0	1	0	0
KRT85	3891	broad.mit.edu	37	12	52754767	52754767	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:52754767C>T	ENST00000257901.3	-	9	1469	c.1394G>A	c.(1393-1395)cGc>cAc	p.R465H	KRT85_ENST00000544265.1_Missense_Mutation_p.R253H	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	465	Tail.				epidermis development	keratin filament	protein binding|structural molecule activity	p.R465H(1)		NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		AGTGATCTGGCGCCCTGGGGT	0.662000													10	30					0	0	1	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213415086	213415086	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:213415086C>T	ENST00000366960.3	+	11	2417	c.2267C>T	c.(2266-2268)tCt>tTt	p.S756F	RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.S744F|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.S544F|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.S459F	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	756					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		AGTGATCCCTCTGGGCCCAAA	0.438000													22	72					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7548992	7548992	+	Silent	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:7548992C>G	ENST00000313599.3	-	8	1806	c.1749G>C	c.(1747-1749)ctG>ctC	p.L583L	CD163L1_ENST00000396630.1_Silent_p.L583L|CD163L1_ENST00000416109.2_Silent_p.L593L			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	583	SRCR 6.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCACCAGCCTCAGGCCCCATG	0.517000													4	17					0	0	1	0	0
SCAMP3	10067	broad.mit.edu	37	1	155226122	155226122	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:155226122C>T	ENST00000355379.3	-	8	1186	c.908G>A	c.(907-909)cGa>cAa	p.R303Q	SCAMP3_ENST00000472397.1_5'UTR|SCAMP3_ENST00000302631.3_Missense_Mutation_p.R329Q	NM_052837.2	NP_443069.1	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3	329					post-Golgi vesicle-mediated transport|protein transport	integral to membrane		p.R329Q(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AGCTGCGGTTCGCACCGCAGG	0.612000													28	105					0	0	1	0	0
BCL7C	9274	broad.mit.edu	37	16	30899219	30899219	+	Silent	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:30899219G>C	ENST00000215115.4	-	6	1636	c.621C>G	c.(619-621)ctC>ctG	p.L207L	BCL7C_ENST00000380317.4_Intron|MIR4519_ENST00000564901.1_RNA|AC106782.20_ENST00000572471.1_RNA|MIR4519_ENST00000570025.1_RNA|MIR4519_ENST00000565573.1_RNA	NM_004765.2	NP_004756.2	Q8WUZ0	BCL7C_HUMAN	B-cell CLL/lymphoma 7C	207	Pro-rich.				apoptosis					large_intestine(1)|lung(3)|prostate(1)|skin(1)	6			Colorectal(24;0.198)			AGATGCGCTTGAGTGGGGGGG	0.617000													58	150					0	0	1	0	0
RP11-337C18.8	0	broad.mit.edu	37	1	146649755	146649755	+	RNA	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:146649755C>T	ENST00000607149.1	+	0	350																											CGGCCCGCCTCGCGGCTGCCT	0.721000													16	31					0	0	1	0	0
GBP5	115362	broad.mit.edu	37	1	89729433	89729433	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:89729433G>A	ENST00000343435.5	-	9	1884	c.1348C>T	c.(1348-1350)Cgg>Tgg	p.R450W	RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000481145.1_5'UTR|GBP5_ENST00000370459.3_Missense_Mutation_p.R450W	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	450						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		ATTCCTTTCCGAGGCTCCCGA	0.428000													31	140					0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42489172	42489172	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:42489172G>A	ENST00000545399.1	-	8	1083	c.930C>T	c.(928-930)ttC>ttT	p.F310F	ATP1A3_ENST00000543770.1_Silent_p.F308F|ATP1A3_ENST00000302102.5_Silent_p.F297F|ATP1A3_ENST00000602133.1_Silent_p.F267F	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	297					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GGGAGAGGATGAAGAAGGAGA	0.577000													12	23					0	0	1	0	0
DDOST	1650	broad.mit.edu	37	1	20982228	20982228	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:20982228C>T	ENST00000375048.3	-	4	553	c.448G>A	c.(448-450)Gac>Aac	p.D150N	DDOST_ENST00000602624.2_Missense_Mutation_p.D133N|DDOST_ENST00000415136.2_Missense_Mutation_p.D113N	NM_005216.4	NP_005207.2	P39656	OST48_HUMAN	dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)	150					innate immune response|post-translational protein modification|response to cytokine stimulus|T cell activation	integral to membrane|microsome|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|skin(1)	13		all_lung(284;2.98e-05)|Lung NSC(340;3.25e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000141)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00046)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TTCTCCTCGTCAAACTCAATC	0.557000													39	109					0	0	1	0	0
IK	3550	broad.mit.edu	37	5	140031308	140031308	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:140031308C>T	ENST00000417647.2	+	3	232	c.93C>T	c.(91-93)ctC>ctT	p.L31L	IK_ENST00000523672.1_3'UTR	NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II	31					cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction				large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATCAAAACTCACCAATGAAG	0.373000													3	38					0	0	1	0	0
MROH8	140699	broad.mit.edu	37	20	35743704	35743704	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:35743704C>G	ENST00000400441.3	-	19	2406	c.2407G>C	c.(2407-2409)Gac>Cac	p.D803H	MROH8_ENST00000441008.2_Missense_Mutation_p.D789H|MROH8_ENST00000217333.8_Missense_Mutation_p.D632H					maestro heat-like repeat family member 8																		CGCAAGCTGTCTACAATGTAT	0.483000													98	261					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24762980	24762980	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:24762980G>C	ENST00000376451.2	+	2	1084	c.824G>C	c.(823-825)aGa>aCa	p.R275T	KIAA1217_ENST00000307544.6_Missense_Mutation_p.R275T|KIAA1217_ENST00000430453.2_Missense_Mutation_p.R478T|KIAA1217_ENST00000396446.1_Missense_Mutation_p.R275T|KIAA1217_ENST00000396445.1_Missense_Mutation_p.R275T|KIAA1217_ENST00000376454.3_Missense_Mutation_p.R557T|KIAA1217_ENST00000376462.1_Missense_Mutation_p.R477T|KIAA1217_ENST00000376452.3_Missense_Mutation_p.R557T|KIAA1217_ENST00000458595.1_Missense_Mutation_p.R557T			Q5T5P2	SKT_HUMAN	KIAA1217	557					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CCCAAAGACAGAGAGACCAGG	0.552000													6	44					0	0	1	0	0
ZNF43	7594	broad.mit.edu	37	19	21991152	21991152	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:21991152C>G	ENST00000594012.1	-	7	2183	c.1669G>C	c.(1669-1671)Gag>Cag	p.E557Q	ZNF43_ENST00000598381.1_Missense_Mutation_p.E557Q|ZNF43_ENST00000595461.1_Missense_Mutation_p.E557Q|ZNF43_ENST00000354959.4_Missense_Mutation_p.E563Q	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	563					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E563Q(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TAGGGTTTCTCTCCAGTATGA	0.368000													38	93					0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121206364	121206364	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:121206364G>A	ENST00000264233.5	-	16	5542	c.5414C>T	c.(5413-5415)tCa>tTa	p.S1805L		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1805					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TAACTGAAGTGAAAAGCTTGT	0.378000								DNA polymerases (catalytic subunits)					42	148					0	0	1	0	0
TBX10	347853	broad.mit.edu	37	11	67402551	67402551	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:67402551C>G	ENST00000335385.3	-	2	278	c.191G>C	c.(190-192)aGa>aCa	p.R64T		NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	64					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						AACTGTCACTCTGGACACACG	0.622000													15	41					0	0	1	0	0
FCRL4	83417	broad.mit.edu	37	1	157557328	157557328	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:157557328C>T	ENST00000271532.1	-	5	720	c.585G>A	c.(583-585)ctG>ctA	p.L195L	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	195	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				CTGTAGCTTTCAGCTCTGGAT	0.478000													39	92					0	0	1	0	0
RHOA	387	broad.mit.edu	37	3	49397790	49397790	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:49397790C>G	ENST00000418115.1	-	5	818	c.434G>C	c.(433-435)aGa>aCa	p.R145T	RHOA_ENST00000454011.2_3'UTR|RHOA_ENST00000422781.1_3'UTR	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	145					axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	TGCCATATCTCTGCCTTCTTC	0.403000													38	104					0	0	1	0	0
TLR7	51284	broad.mit.edu	37	X	12905259	12905259	+	Silent	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:12905259G>C	ENST00000380659.3	+	3	1771	c.1632G>C	c.(1630-1632)ctG>ctC	p.L544L		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	544					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	TAGCAGAGCTGAGATATTTGG	0.403000													5	269					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92532330	92532330	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:92532330G>C	ENST00000298047.6	+	9	6168	c.6151G>C	c.(6151-6153)Gag>Cag	p.E2051Q	FAT3_ENST00000525166.1_Missense_Mutation_p.E1901Q|FAT3_ENST00000409404.2_Missense_Mutation_p.E2051Q			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2051	Cadherin 18.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGAGTTATATGAGCTGGTGGT	0.468000										TCGA Ovarian(4;0.039)			10	32					0	0	1	0	0
XPOT	11260	broad.mit.edu	37	12	64813912	64813912	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:64813912G>A	ENST00000332707.5	+	7	1081	c.552G>A	c.(550-552)gtG>gtA	p.V184V		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	184	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		CAAATCTGGTGGAATCATGGT	0.383000													22	66					0	0	1	0	0
ZNF750	79755	broad.mit.edu	37	17	80790247	80790247	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:80790247G>C	ENST00000269394.3	-	2	917	c.84C>G	c.(82-84)ttC>ttG	p.F28L	TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron|ZNF750_ENST00000572562.1_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	28						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGGGACATTGGAAACATTTAT	0.408000													47	45					0	0	1	0	0
CKMT2	1160	broad.mit.edu	37	5	80555067	80555067	+	Silent	SNP	C	C	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:80555067C>A	ENST00000424301.2	+	9	1246	c.1008C>A	c.(1006-1008)ctC>ctA	p.L336L	CTC-281B15.1_ENST00000505295.1_RNA|CKMT2_ENST00000254035.4_Silent_p.L336L|CTC-281B15.1_ENST00000512287.1_RNA|CTC-281B15.1_ENST00000502041.2_RNA|CTC-281B15.1_ENST00000500148.2_RNA|CKMT2_ENST00000437669.1_Silent_p.L336L|CTC-281B15.1_ENST00000501927.2_RNA|CTC-281B15.1_ENST00000511495.1_RNA|CTC-281B15.1_ENST00000503483.2_RNA	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	336	Phosphagen kinase C-terminal.				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	TCCCAAAGCTCAGCAAGGTAC	0.517000													10	56					2.17888e-05	2.21927e-05	1	1	0
LONP2	83752	broad.mit.edu	37	16	48333616	48333616	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:48333616G>A	ENST00000285737.4	+	10	1671	c.1578G>A	c.(1576-1578)ttG>ttA	p.L526L	LONP2_ENST00000535754.1_Silent_p.L482L	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN	lon peptidase 2, peroxisomal	526					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						ATAGGCACTTGATCCCCAAGC	0.463000													24	96					0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	20101658	20101658	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:20101658C>T	ENST00000396085.1	+	25	5589	c.5228C>T	c.(5227-5229)tCc>tTc	p.S1743F	NAV2_ENST00000396087.3_Missense_Mutation_p.S1799F|NAV2_ENST00000360655.4_Missense_Mutation_p.S1679F|NAV2_ENST00000349880.4_Missense_Mutation_p.S1743F|NAV2_ENST00000540292.1_Missense_Mutation_p.S1730F|NAV2_ENST00000527559.2_Missense_Mutation_p.S1728F|NAV2_ENST00000533917.1_Missense_Mutation_p.S807F|NAV2_ENST00000311043.8_Missense_Mutation_p.S807F	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1799						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						AGGCAGCACTCCTCAGACAGC	0.577000													9	30					0	0	1	0	0
CENPB	1059	broad.mit.edu	37	20	3766555	3766555	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:3766555G>A	ENST00000379751.4	-	1	782	c.576C>T	c.(574-576)ttC>ttT	p.F192F		NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	192					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						CGGTGGCGCTGAACACGTCCT	0.721000													16	66					0	0	1	0	0
SNORD115-42	100033816	broad.mit.edu	37	15	25492527	25492527	+	RNA	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:25492527G>C	ENST00000364273.1	+	0	36					NR_003357.1																						GTTCTGAAGAGAGGTGATGAC	0.507000													72	366					0	0	1	0	0
SHROOM4	57477	broad.mit.edu	37	X	50377158	50377158	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:50377158G>C	ENST00000376020.2	-	4	1940	c.1915C>G	c.(1915-1917)Ctt>Gtt	p.L639V	SHROOM4_ENST00000289292.7_Missense_Mutation_p.L639V|SHROOM4_ENST00000460112.3_Missense_Mutation_p.L523V	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	639					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GAAGATAGAAGAGATGTGTTA	0.527000													18	15					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179429972	179429972	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:179429972C>T	ENST00000589042.1	-	326	81111	c.80887G>A	c.(80887-80889)Gaa>Aaa	p.E26963K	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E17898K|TTN_ENST00000342992.6_Missense_Mutation_p.E24395K|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E18090K|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E25322K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E18023K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25322	Fibronectin type-III 96.						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)			CTGAGATTTTCTGTTGCTGTG	0.418000													21	108					0	0	1	0	0
DUSP14	11072	broad.mit.edu	37	17	35872423	35872423	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:35872423C>G	ENST00000487847.1	+	2	1027	c.49C>G	c.(49-51)Cgg>Ggg	p.R17G	DUSP14_ENST00000394386.1_Missense_Mutation_p.R17G|DUSP14_ENST00000394389.4_Missense_Mutation_p.R17G			O95147	DUS14_HUMAN	dual specificity phosphatase 14	17							MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	9		Breast(25;0.00637)|Ovarian(249;0.15)				CATGGCCCCTCGGATGATTTC	0.567000													14	44					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79027795	79027795	+	Missense_Mutation	SNP	C	C	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:79027795C>A	ENST00000446378.2	+	2	3238	c.3207C>A	c.(3205-3207)ttC>ttA	p.F1069L		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1069						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CTGAAACTTTCCCTTTGATGT	0.438000													14	42					0.00400662	0.00404807	1	1	0
MAST1	22983	broad.mit.edu	37	19	12984814	12984814	+	Silent	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:12984814G>C	ENST00000251472.4	+	26	3882	c.3843G>C	c.(3841-3843)gcG>gcC	p.A1281A		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	1281					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						AGAAGGGCGCGCTGCGCAAAC	0.677000													6	7					0	0	1	0	0
FBXL20	84961	broad.mit.edu	37	17	37431248	37431248	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:37431248G>A	ENST00000264658.6	-	10	1062	c.802C>T	c.(802-804)Cta>Tta	p.L268L	FBXL20_ENST00000583610.1_Silent_p.L268L|FBXL20_ENST00000577399.1_Silent_p.L270L|FBXL20_ENST00000394294.3_Silent_p.L236L	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	268						cytoplasm				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			TTCTGACCTAGAGCATTCAGG	0.423000													24	88					0	0	1	0	0
GPR108	56927	broad.mit.edu	37	19	6735686	6735686	+	Missense_Mutation	SNP	C	C	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:6735686C>A	ENST00000264080.7	-	4	347	c.321G>T	c.(319-321)caG>caT	p.Q107H	GPR108_ENST00000430424.4_5'UTR	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	107						integral to membrane				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						TACTGTTTTTCTGGAGAGGGC	0.592000											OREG0025202	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	86					7.93312e-07	8.17493e-07	1	1	0
ADORA2A	135	broad.mit.edu	37	22	24837220	24837220	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr22:24837220C>T	ENST00000337539.7	+	3	1461	c.1002C>T	c.(1000-1002)gtC>gtT	p.V334V	ADORA2A-AS1_ENST00000326341.4_RNA|ADORA2A-AS1_ENST00000543438.1_RNA|KB-1896H10.1_ENST00000358654.2_3'UTR|ADORA2A-AS1_ENST00000427813.2_RNA	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN	adenosine A2a receptor	334					apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception	integral to plasma membrane|membrane fraction	enzyme binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277)	GAGAGCAGGTCAGCCTCCGTC	0.647000													4	19					0	0	1	0	0
LMNB2	84823	broad.mit.edu	37	19	2438403	2438403	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:2438403G>A	ENST00000325327.3	-	3	590	c.528C>T	c.(526-528)gaC>gaT	p.D176D	LMNB2_ENST00000582871.1_Silent_p.D156D			Q03252	LMNB2_HUMAN	lamin B2	156	Coil 1B.|Rod.					nuclear inner membrane	structural molecule activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTCAGCCACGTCACTCTCCA	0.667000													5	34					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123846480	123846480	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:123846480C>T	ENST00000369005.1	+	4	4805	c.4465C>T	c.(4465-4467)Ctg>Ttg	p.L1489L	TACC2_ENST00000453444.2_Silent_p.L1489L|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Silent_p.L1489L|TACC2_ENST00000515603.1_Silent_p.L1489L|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Silent_p.L1489L	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1489						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCATCTGGCTCTGCAAGATCC	0.597000													12	41					0	0	1	0	0
OPRL1	4987	broad.mit.edu	37	20	62729471	62729471	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:62729471C>T	ENST00000349451.3	+	5	962	c.550C>T	c.(550-552)Ccc>Tcc	p.P184S	OPRL1_ENST00000355631.4_Missense_Mutation_p.P184S|OPRL1_ENST00000336866.2_Missense_Mutation_p.P184S	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	184					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					TGTCGGTGTTCCCGTTGCCAT	0.662000													15	58					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141641478	141641478	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:141641478G>A	ENST00000389484.3	-	25	5048	c.4077C>T	c.(4075-4077)atC>atT	p.I1359I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1359					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGGCCACTTCGATTTGGTCCA	0.493000										TSP Lung(27;0.18)			37	126					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21078642	21078642	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:21078642C>T	ENST00000261383.3	-	24	3479	c.3480G>A	c.(3478-3480)ctG>ctA	p.L1160L	DNAH3_ENST00000415178.1_Silent_p.L1160L	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1160	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGTAATCATTCAGCCCTTTCT	0.443000													21	90					0	0	1	0	0
DLG1	1739	broad.mit.edu	37	3	196771544	196771544	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:196771544C>T	ENST00000346964.2	-	26	2920	c.2731G>A	c.(2731-2733)Gaa>Aaa	p.E911K	DLG1_ENST00000452595.1_Missense_Mutation_p.E773K|DLG1_ENST00000450955.1_Missense_Mutation_p.E878K|DLG1_ENST00000448528.2_Missense_Mutation_p.E889K|DLG1_ENST00000443183.1_Missense_Mutation_p.E785K|DLG1_ENST00000357674.4_Missense_Mutation_p.E878K|DLG1_ENST00000419354.1_Missense_Mutation_p.E889K|DLG1_ENST00000422288.1_Missense_Mutation_p.E838K|DLG1_ENST00000392382.2_Missense_Mutation_p.E856K|DLG1_ENST00000314062.3_Missense_Mutation_p.E838K	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	889					actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		GATTGTTCTTCTATGATCTGT	0.363000													32	130					0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111019937	111019937	+	Silent	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:111019937G>C	ENST00000262839.2	-	11	3444	c.2526C>G	c.(2524-2526)ctC>ctG	p.L842L		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	842					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CCAGTTTCTTGAGAGAAGGAC	0.463000													52	68					0	0	1	0	0
ZBTB22	9278	broad.mit.edu	37	6	33283442	33283442	+	Missense_Mutation	SNP	G	G	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:33283442G>T	ENST00000431845.2	-	2	1403	c.1252C>A	c.(1252-1254)Ccc>Acc	p.P418T	ZBTB22_ENST00000418724.1_Missense_Mutation_p.P418T	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	418					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						ATGTCCAAGGGAAGGAGCGGT	0.612000													45	122					2.13384e-23	2.29016e-23	1	1	0
TBX10	347853	broad.mit.edu	37	11	67402487	67402487	+	Missense_Mutation	SNP	C	C	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:67402487C>A	ENST00000335385.3	-	2	342	c.255G>T	c.(253-255)atG>atT	p.M85I		NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	85					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						TGGTGACGATCATCTCAGTGC	0.647000													10	25					7.48243e-07	7.71955e-07	1	1	0
LMOD1	25802	broad.mit.edu	37	1	201868902	201868902	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:201868902C>T	ENST00000367288.4	-	2	1485	c.1239G>A	c.(1237-1239)caG>caA	p.Q413Q	RP11-307B6.3_ENST00000458139.1_RNA|RP11-307B6.3_ENST00000414927.1_RNA	NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	413					muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GCGTGTTGTTCTGGAGGAGGG	0.572000													5	29					0	0	1	0	0
FAM161B	145483	broad.mit.edu	37	14	74404816	74404816	+	Splice_Site	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr14:74404816C>G	ENST00000286544.3	-	6	1788		c.e6-1		RP5-1021I20.5_ENST00000555916.1_RNA|FAM161B_ENST00000534936.1_Splice_Site	NM_152445.2	NP_689658.2			family with sequence similarity 161, member B											breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						AAGTGCACTTCTAAAGGAAGG	0.428000													46	91					0	0	1	0	0
SBDS	51119	broad.mit.edu	37	7	66456190	66456190	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:66456190C>T	ENST00000246868.2	-	4	741	c.558G>A	c.(556-558)ctG>ctA	p.L186L		NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome	186					bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing	cytoplasm|nucleolus|nucleoplasm|spindle pole	microtubule binding|ribosome binding|rRNA binding			cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						GCTTTTCTTTCAGCTTCTTGC	0.388000			Gene Conversion			"""AML, MDS"""			Shwachman-Diamond syndrome				35	86					0	0	1	0	0
ATP8A1	10396	broad.mit.edu	37	4	42457368	42457368	+	Missense_Mutation	SNP	C	C	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:42457368C>A	ENST00000381668.5	-	29	2994	c.2763G>T	c.(2761-2763)ttG>ttT	p.L921F	ATP8A1_ENST00000264449.10_Missense_Mutation_p.L906F	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	921					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	CAGGGTACTTCAACATGTTCT	0.433000													30	87					2.12542e-12	2.24548e-12	1	1	0
GOLGA6A	342096	broad.mit.edu	37	15	74364606	74364606	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:74364606G>A	ENST00000290438.3	-	14	1586	c.1546C>T	c.(1546-1548)Cgg>Tgg	p.R516W		NM_001038640.2	NP_001033729.2	Q9NYA3	GOG6A_HUMAN	golgin A6 family, member A	516										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						GGCGTGGGCCGAGGCGCCTCC	0.637000													5	101					0	0	1	0	0
CDC27	996	broad.mit.edu	37	17	45198318	45198318	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:45198318C>T	ENST00000066544.3	-	19	2551	c.2458G>A	c.(2458-2460)Gaa>Aaa	p.E820K	CDC27_ENST00000527547.1_Missense_Mutation_p.E819K|CDC27_ENST00000531206.1_Missense_Mutation_p.E826K|CDC27_ENST00000446365.2_Missense_Mutation_p.E759K	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	820					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TCATCACTTTCAGCTGCATGA	0.403000													14	32					0	0	1	0	0
XPNPEP2	7512	broad.mit.edu	37	X	128885796	128885796	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:128885796C>T	ENST00000371106.3	+	9	1007	c.815C>T	c.(814-816)tCt>tTt	p.S272F		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	272					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						ACAGACTCTTCTATTAGGTAT	0.483000													65	65					0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46931067	46931067	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr22:46931067C>T	ENST00000262738.3	-	1	2000	c.2001G>A	c.(1999-2001)atG>atA	p.M667I	CELSR1_ENST00000395964.1_Missense_Mutation_p.M667I	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	667	Cadherin 4.				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)		TGGAGGAGCTCATGGGGGGCG	0.637000													3	20					0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85450762	85450762	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:85450762G>C	ENST00000393217.2	+	8	2252	c.2191G>C	c.(2191-2193)Gag>Cag	p.E731Q		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	731										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CTGTGTATCAGAGTCAACCCT	0.333000													114	460					0	0	1	0	0
RPN2	6185	broad.mit.edu	37	20	35838545	35838545	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:35838545G>C	ENST00000237530.6	+	8	1274	c.963G>C	c.(961-963)caG>caC	p.Q321H	RPN2_ENST00000373622.5_Missense_Mutation_p.Q289H	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	321					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				CTGTCCTCCAGAAGACATCCT	0.478000													35	88					0	0	1	0	0
ZNF569	148266	broad.mit.edu	37	19	37904385	37904385	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:37904385G>A	ENST00000316950.6	-	6	1732	c.1175C>T	c.(1174-1176)tCt>tTt	p.S392F	ZNF569_ENST00000392149.2_Missense_Mutation_p.S392F|ZNF569_ENST00000392150.2_Missense_Mutation_p.S233F	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGAGCTTTGAGAGAAGGCTTT	0.393000													23	107					0	0	1	0	0
PPRC1	23082	broad.mit.edu	37	10	103909730	103909730	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:103909730G>C	ENST00000278070.2	+	14	4978	c.4939G>C	c.(4939-4941)Gat>Cat	p.D1647H	PPRC1_ENST00000413464.2_Missense_Mutation_p.D1383H|PPRC1_ENST00000370012.1_Missense_Mutation_p.D614H	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1647					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GAGCAAATTTGATTCTCTTGA	0.473000													57	216					0	0	1	0	0
GGT1	2678	broad.mit.edu	37	22	25023940	25023940	+	Nonsense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr22:25023940C>T	ENST00000400382.1	+	13	2085	c.1330C>T	c.(1330-1332)Cag>Tag	p.Q444*	GGT1_ENST00000404920.1_Nonsense_Mutation_p.Q100*|GGT1_ENST00000401885.1_Nonsense_Mutation_p.Q100*|GGT1_ENST00000400380.1_Nonsense_Mutation_p.Q444*|GGT1_ENST00000400383.1_Nonsense_Mutation_p.Q444*|GGT1_ENST00000248923.4_Nonsense_Mutation_p.Q444*|GGT1_ENST00000403838.1_Nonsense_Mutation_p.Q100*|GGT1_ENST00000406383.2_Nonsense_Mutation_p.Q444*|GGT1_ENST00000404532.1_Nonsense_Mutation_p.Q100*|GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000404223.1_Nonsense_Mutation_p.Q100*			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	444					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	CAATTTCATCCAGCCAGGTAT	0.622000													32	96					0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19027857	19027857	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:19027857G>C	ENST00000421369.3	+	3	625	c.67G>C	c.(67-69)Gag>Cag	p.E23Q	TMC7_ENST00000304381.5_Missense_Mutation_p.E133Q|TMC7_ENST00000569532.1_Missense_Mutation_p.E133Q	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	133						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						GAGGTTCCTAGAGAAGGCTCG	0.537000													15	38					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30721294	30721294	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:30721294G>A	ENST00000262518.4	+	8	1364	c.979G>A	c.(979-981)Gag>Aag	p.E327K	SRCAP_ENST00000395059.2_Missense_Mutation_p.E327K|SRCAP_ENST00000344771.4_Missense_Mutation_p.E327K	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	327	Glu-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GCTTCGCCGTGAGGGAGAATT	0.542000													13	30					0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3240619	3240619	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:3240619C>T	ENST00000355072.5	+	66	9274	c.9129C>T	c.(9127-9129)ttC>ttT	p.F3043F		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	3043					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TCTCCAACTTCACGCAGAGGG	0.642000													5	14					0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160483568	160483568	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:160483568C>T	ENST00000356956.1	+	26	3735	c.3587C>T	c.(3586-3588)tCa>tTa	p.S1196L		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1196					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		TTACAGGGCTCACCAGCATTT	0.473000													14	56					0	0	1	0	0
KRTAP4-8	728224	broad.mit.edu	37	17	39254126	39254126	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:39254126C>T	ENST00000333822.4	-	1	267	c.211G>A	c.(211-213)Gtg>Atg	p.V71M		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	71	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						CAGCTGGACACACAGCAGCTG	0.667000													5	40					0	0	1	0	0
ATP2B1	490	broad.mit.edu	37	12	90018085	90018085	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:90018085C>G	ENST00000428670.3	-	9	1675	c.1219G>C	c.(1219-1221)Gag>Cag	p.E407Q	ATP2B1_ENST00000348959.3_Missense_Mutation_p.E407Q|ATP2B1_ENST00000359142.3_Missense_Mutation_p.E407Q|ATP2B1_ENST00000261173.2_Missense_Mutation_p.E407Q|ATP2B1_ENST00000393164.2_Missense_Mutation_p.E150Q			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	407					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						GGTGTGCACTCAGCAAGCCAT	0.393000													18	60					0	0	1	0	0
C19orf44	84167	broad.mit.edu	37	19	16613927	16613927	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:16613927G>A	ENST00000221671.3	+	3	967	c.811G>A	c.(811-813)Gca>Aca	p.A271T	CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Missense_Mutation_p.A271T	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	271										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						ACTCTCCAGCGCAAAGCCTTC	0.473000													4	70					0	0	1	0	0
DRC1	92749	broad.mit.edu	37	2	26647185	26647185	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:26647185G>C	ENST00000288710.2	+	4	477	c.403G>C	c.(403-405)Gat>Cat	p.D135H		NM_145038.2	NP_659475.2			dynein regulatory complex subunit 1 homolog (Chlamydomonas)																		GGACAAATTCGATGAAATCAC	0.493000													37	150					0	0	1	0	0
MSL1	339287	broad.mit.edu	37	17	38289863	38289863	+	Nonsense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:38289863C>T	ENST00000398532.3	+	7	1948	c.1633C>T	c.(1633-1635)Cag>Tag	p.Q545*	MSL1_ENST00000579565.1_Nonsense_Mutation_p.Q282*|MSL1_ENST00000578648.1_Nonsense_Mutation_p.Q529*			Q68DK7	MSL1_HUMAN	male-specific lethal 1 homolog (Drosophila)	545					histone H4-K16 acetylation	MSL complex				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	7						GAAAGGAATTCAGGAATCTGA	0.408000													8	19					0	0	1	0	0
MFI2	4241	broad.mit.edu	37	3	196737593	196737593	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:196737593G>A	ENST00000296350.5	-	10	1419	c.1306C>T	c.(1306-1308)Ccc>Tcc	p.P436S		NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	436	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)		CCGGCTGCGGGAACCAGGCCG	0.607000													10	60					0	0	1	0	0
TNS4	84951	broad.mit.edu	37	17	38636972	38636972	+	Missense_Mutation	SNP	G	G	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:38636972G>T	ENST00000254051.6	-	9	1879	c.1721C>A	c.(1720-1722)tCc>tAc	p.S574Y		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	574	Phosphatase tensin-type.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			CTTCTGGCAGGAGGCTGGGCT	0.622000													9	34					5.4927e-09	5.71371e-09	1	1	0
PRPF3	9129	broad.mit.edu	37	1	150305455	150305455	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:150305455G>C	ENST00000324862.6	+	6	678	c.513G>C	c.(511-513)aaG>aaC	p.K171N	PRPF3_ENST00000543398.1_Missense_Mutation_p.K36N|PRPF3_ENST00000467329.1_3'UTR|PRPF3_ENST00000414970.2_Missense_Mutation_p.K122N	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	171					nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		CACAGCCAAAGACTCCTTCTT	0.443000													4	43					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135429620	135429620	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:135429620C>G	ENST00000394143.1	+	6	4046	c.3755C>G	c.(3754-3756)tCt>tGt	p.S1252C	GPR112_ENST00000412101.1_Missense_Mutation_p.S1047C|GPR112_ENST00000394141.1_Missense_Mutation_p.S1047C|GPR112_ENST00000370652.1_Missense_Mutation_p.S1252C|GPR112_ENST00000287534.4_Missense_Mutation_p.S1189C	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1252					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACTAGCACCTCTGTCTTATCT	0.428000													40	46					0	0	1	0	0
NCAPD2	9918	broad.mit.edu	37	12	6637460	6637460	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:6637460C>G	ENST00000315579.5	+	25	4064	c.3265C>G	c.(3265-3267)Ctg>Gtg	p.L1089V	NCAPD2_ENST00000545962.1_Missense_Mutation_p.L1044V	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1089					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CTTTCCCAATCTGGTGGACCC	0.562000													70	168					0	0	1	0	0
SLFN5	162394	broad.mit.edu	37	17	33585712	33585712	+	Translation_Start_Site	SNP	G	G	A	rs140285201		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:33585712G>A	ENST00000299977.4	+	2	151	c.3G>A	c.(1-3)atG>atA	p.M1I	SLFN5_ENST00000542451.1_Start_Codon_SNP_p.M1I|SLFN5_ENST00000592325.1_Start_Codon_SNP_p.M1I	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	1					cell differentiation		ATP binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		CTGAGAAGATGAGTCTTAGGA	0.453000													17	48					0	0	1	0	0
DOCK10	55619	broad.mit.edu	37	2	225729338	225729338	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:225729338C>G	ENST00000409592.3	-	13	1629	c.1516G>C	c.(1516-1518)Gaa>Caa	p.E506Q	DOCK10_ENST00000258390.7_Missense_Mutation_p.E512Q			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	512							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AAGACTTTTTCGATTTTGGCC	0.368000													12	46					0	0	1	0	0
TBP	6908	broad.mit.edu	37	6	170871052	170871052	+	Silent	SNP	G	G	A	rs112083427		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:170871052G>A	ENST00000392092.2	+	3	507	c.228G>A	c.(226-228)caG>caA	p.Q76Q	TBP_ENST00000540980.1_Silent_p.Q56Q|TBP_ENST00000230354.6_Silent_p.Q76Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	76	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q76Q(4)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacagcagcagcagcagc	0.572000													5	54					0	0	1	0	0
LGALS3	3958	broad.mit.edu	37	14	55604802	55604802	+	Nonsense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr14:55604802C>T	ENST00000254301.9	+	3	319	c.58C>T	c.(58-60)Caa>Taa	p.Q20*	LGALS3_ENST00000553755.1_3'UTR|LGALS3_ENST00000554715.1_Nonsense_Mutation_p.Q20*	NM_002306.3	NP_002297.2	P17931	LEG3_HUMAN	lectin, galactoside-binding, soluble, 3	20					cell differentiation|innate immune response|mRNA processing|RNA splicing	mitochondrial inner membrane|plasma membrane|spliceosomal complex	IgE binding|sugar binding			central_nervous_system(1)|endometrium(1)|prostate(1)	3						CCCAAACCCTCAAGGATGGCC	0.582000													12	35					0	0	1	0	0
RABGGTB	5876	broad.mit.edu	37	1	76260321	76260321	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:76260321G>A	ENST00000319942.3	+	9	1053	c.982G>A	c.(982-984)Gag>Aag	p.E328K	RABGGTB_ENST00000535300.1_Missense_Mutation_p.E154K|RABGGTB_ENST00000496055.1_3'UTR	NM_004582.2	NP_004573.2	P53611	PGTB2_HUMAN	Rab geranylgeranyltransferase, beta subunit	328					protein modification process|visual perception		metal ion binding|protein binding|Rab geranylgeranyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)	19						TGTTCAGCCTGAGCTAGTGAG	0.363000													27	104					0	0	1	0	0
MBD3	53615	broad.mit.edu	37	19	1585201	1585201	+	Missense_Mutation	SNP	C	C	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:1585201C>A	ENST00000156825.1	-	2	144	c.123G>T	c.(121-123)aaG>aaT	p.K41N	MBD3_ENST00000592012.1_Missense_Mutation_p.K9N|MBD3_ENST00000585967.1_5'UTR|MBD3_ENST00000590550.2_5'UTR|MBD3_ENST00000434436.3_Missense_Mutation_p.K41N	NM_003926.5	NP_003917.1	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	41	MBD.				transcription, DNA-dependent	NuRD complex	DNA binding|protein binding			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCGGAACTTCTTCCCGCTCG	0.697000													3	6					1	1	1	1	0
YEATS2	55689	broad.mit.edu	37	3	183479317	183479317	+	Missense_Mutation	SNP	C	C	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:183479317C>A	ENST00000305135.5	+	14	1874	c.1679C>A	c.(1678-1680)tCt>tAt	p.S560Y		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	560					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TTGTTTGCATCTATGCCACCT	0.383000													49	205					2.29192e-23	2.45682e-23	1	1	0
ALPK1	80216	broad.mit.edu	37	4	113352354	113352354	+	Nonsense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:113352354C>T	ENST00000458497.1	+	11	1930	c.1651C>T	c.(1651-1653)Caa>Taa	p.Q551*	ALPK1_ENST00000177648.9_Nonsense_Mutation_p.Q551*|ALPK1_ENST00000504176.2_Nonsense_Mutation_p.Q473*	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	551							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CTCCTTGGATCAAGATGTGGA	0.493000													24	59					0	0	1	0	0
SLC25A16	8034	broad.mit.edu	37	10	70253224	70253224	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:70253224G>C	ENST00000265870.2	-	5	623	c.525C>G	c.(523-525)ttC>ttG	p.F175L	SLC25A16_ENST00000539557.1_Missense_Mutation_p.F77L|SLC25A16_ENST00000493963.1_5'UTR	NM_152707.3	NP_689920.1	P16260	GDC_HUMAN	solute carrier family 25 (mitochondrial carrier; Graves disease autoantigen), member 16	175					coenzyme biosynthetic process|pantothenate metabolic process	integral to membrane|mitochondrial inner membrane	binding|solute:solute antiporter activity			endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	7						AAATTGTTTTGAAAGCATGAA	0.348000													16	66					0	0	1	0	0
MYO1B	4430	broad.mit.edu	37	2	192228948	192228948	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:192228948C>T	ENST00000392318.3	+	11	1225	c.978C>T	c.(976-978)ttC>ttT	p.F326F	MYO1B_ENST00000339514.4_Silent_p.F326F|MYO1B_ENST00000304164.4_Silent_p.F326F|MYO1B_ENST00000392316.1_Silent_p.F326F	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	326	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			CATTCAGTTTCCGAACAGTTG	0.418000													38	131					0	0	1	0	0
ANO9	338440	broad.mit.edu	37	11	428114	428114	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:428114G>A	ENST00000332826.6	-	15	1392	c.1308C>T	c.(1306-1308)ctC>ctT	p.L436L		NM_001012302.2	NP_001012302.2	A1A5B4	ANO9_HUMAN	anoctamin 9	436						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						CGATGTAGATGAGAGACGAGA	0.577000													17	51					0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117113562	117113562	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:117113562C>G	ENST00000310357.3	-	6	2545	c.2524G>C	c.(2524-2526)Gag>Cag	p.E842Q	GPRC6A_ENST00000368549.3_Missense_Mutation_p.E771Q|GPRC6A_ENST00000530250.1_Missense_Mutation_p.E667Q	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	842					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GTGTTAATCTCTTGCTTACAA	0.388000													27	103					0	0	1	0	0
RFX7	64864	broad.mit.edu	37	15	56388408	56388408	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:56388408C>T	ENST00000423270.1	-	9	1517	c.1518G>A	c.(1516-1518)agG>agA	p.R506R	RFX7_ENST00000422057.1_Silent_p.R409R|RFX7_ENST00000559447.2_Silent_p.R409R|RFX7_ENST00000317318.6_Silent_p.R506R	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	409					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GTGGAACACTCCTTGATTCTT	0.498000													11	56					0	0	1	0	0
ZNF679	168417	broad.mit.edu	37	7	63727167	63727167	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:63727167G>A	ENST00000421025.1	+	5	1425	c.1156G>A	c.(1156-1158)Gac>Aac	p.D386N	ZNF679_ENST00000255746.4_Missense_Mutation_p.D386N	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	386					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						TGAAGAATGTGACAAAGCTTT	0.388000													3	26					0	0	1	0	0
LNX2	222484	broad.mit.edu	37	13	28155802	28155802	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr13:28155802C>G	ENST00000316334.3	-	2	168	c.39G>C	c.(37-39)caG>caC	p.Q13H		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	13							zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		AGGAGGAGGTCTGTTCCACAG	0.423000													32	97					0	0	1	0	0
LARS	51520	broad.mit.edu	37	5	145493842	145493842	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:145493842C>T	ENST00000394434.2	-	32	3524	c.3358G>A	c.(3358-3360)Gat>Aat	p.D1120N	LARS_ENST00000274562.9_Missense_Mutation_p.D1093N|RP11-118M9.3_ENST00000514002.1_RNA|LARS_ENST00000545646.1_Missense_Mutation_p.D1074N|LARS_ENST00000510191.1_Missense_Mutation_p.D1066N	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	1120					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	AACAGTGGATCATCAAATCTC	0.433000													16	53					0	0	1	0	0
FGFBP2	83888	broad.mit.edu	37	4	15964323	15964323	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:15964323C>G	ENST00000259989.6	-	1	536	c.430G>C	c.(430-432)Gag>Cag	p.E144Q	FGFBP2_ENST00000509331.1_Intron	NM_031950.3	NP_114156.1	Q9BYJ0	FGFP2_HUMAN	fibroblast growth factor binding protein 2	144						extracellular space	growth factor binding			central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						GTCCCAGCCTCAGGCTGCTGG	0.607000													23	103					0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126173421	126173421	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:126173421C>T	ENST00000339582.2	-	9	2823	c.2015G>A	c.(2014-2016)cGt>cAt	p.R672H	GRM8_ENST00000358373.3_Missense_Mutation_p.R672H|GRM8_ENST00000444921.2_Missense_Mutation_p.R672H|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	672					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TCGGTGGATACGGTTTGTTTT	0.493000										HNSCC(24;0.065)			21	87					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617634	77617634	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr8:77617634G>C	ENST00000521891.2	+	2	1759	c.1311G>C	c.(1309-1311)gaG>gaC	p.E437D	ZFHX4_ENST00000455469.2_Missense_Mutation_p.E437D|ZFHX4_ENST00000518282.1_Missense_Mutation_p.E437D|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.E437D	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	437						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGATGTCAGAGAGCAAAGACC	0.498000										HNSCC(33;0.089)			10	25					0	0	1	0	0
SEMA4D	10507	broad.mit.edu	37	9	92003690	92003690	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:92003690G>A	ENST00000450295.1	-	11	1744	c.968C>T	c.(967-969)tCg>tTg	p.S323L	SEMA4D_ENST00000422704.2_Missense_Mutation_p.S323L|SEMA4D_ENST00000339861.4_Missense_Mutation_p.S323L|SEMA4D_ENST00000343780.4_Missense_Mutation_p.S323L|SEMA4D_ENST00000438547.2_Missense_Mutation_p.S323L|SEMA4D_ENST00000420987.1_Missense_Mutation_p.S323L|SEMA4D_ENST00000356444.2_Missense_Mutation_p.S323L|SEMA4D_ENST00000455551.2_Missense_Mutation_p.S323L			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	323	Sema.				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						GCACACTGCCGACAGCCCCAC	0.627000													8	34					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228890197	228890197	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:228890197C>G	ENST00000392056.3	-	5	400	c.354G>C	c.(352-354)atG>atC	p.M118I	SPHKAP_ENST00000344657.5_Missense_Mutation_p.M118I	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	118						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GTTGGACATTCATGGAACTGA	0.358000													24	96					0	0	1	0	0
RICTOR	253260	broad.mit.edu	37	5	38991175	38991175	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:38991175C>T	ENST00000357387.3	-	7	489	c.459G>A	c.(457-459)atG>atA	p.M153I	RICTOR_ENST00000296782.5_Missense_Mutation_p.M153I	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	153					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TCACAGTAATCATCTGTAACA	0.348000													22	76					0	0	1	0	0
SHF	90525	broad.mit.edu	37	15	45464441	45464441	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:45464441G>A	ENST00000290894.8	-	6	1363	c.869C>T	c.(868-870)tCt>tTt	p.S290F	SHF_ENST00000458022.2_Missense_Mutation_p.S106F|SHF_ENST00000560471.1_Missense_Mutation_p.S355F|RP11-519G16.2_ENST00000560034.1_RNA|SHF_ENST00000318390.6_Missense_Mutation_p.S300F|SHF_ENST00000560540.1_Missense_Mutation_p.S308F|SHF_ENST00000560734.1_Intron	NM_138356.2	NP_612365.2	B3KTY1	B3KTY1_HUMAN	Src homology 2 domain containing F	290										endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(2)	12		all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06)		GTTCCCTGCAGAGAGTCGGGG	0.607000													16	50					0	0	1	0	0
SGSM1	129049	broad.mit.edu	37	22	25294145	25294145	+	Silent	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr22:25294145G>C	ENST00000400358.4	+	19	2286	c.2229G>C	c.(2227-2229)cgG>cgC	p.R743R	SGSM1_ENST00000400359.4_Silent_p.R798R	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	798	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						ACGCCCAGCGGAACACCCCCA	0.627000													8	48					0	0	1	0	0
LIMK2	3985	broad.mit.edu	37	22	31674305	31674305	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr22:31674305G>A	ENST00000331728.4	+	16	1909	c.1795G>A	c.(1795-1797)Gac>Aac	p.D599N	LIMK2_ENST00000467301.1_3'UTR|LIMK2_ENST00000333611.4_Missense_Mutation_p.D578N|LIMK2_ENST00000444929.2_Missense_Mutation_p.D353N	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	599	Protein kinase.					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						GAAATTGGAGGACTCCTTTGA	0.572000													6	345					0	0	1	0	0
TMCC1	23023	broad.mit.edu	37	3	129370616	129370616	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:129370616G>A	ENST00000393238.3	-	6	2010	c.1670C>T	c.(1669-1671)aCg>aTg	p.T557M	TMCC1_ENST00000426664.2_Missense_Mutation_p.T443M|TMCC1_ENST00000329333.5_Missense_Mutation_p.T378M|TMCC1_ENST00000432054.2_Missense_Mutation_p.T233M	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	557						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						GGAGATGCGCGTCTGGCATGC	0.592000													13	57					0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32163523	32163523	+	Silent	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:32163523C>G	ENST00000375023.3	-	30	5841	c.5703G>C	c.(5701-5703)tcG>tcC	p.S1901S	NOTCH4_ENST00000443903.2_3'UTR	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1901					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CTCCTACTCCCGAGAGGCTCC	0.677000													8	36					0	0	1	0	0
VN1R1	57191	broad.mit.edu	37	19	57967615	57967615	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:57967615C>T	ENST00000321039.3	-	1	239	c.240G>A	c.(238-240)ctG>ctA	p.L80L	AC004076.9_ENST00000596831.1_Intron|AC004076.9_ENST00000415705.3_Intron	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	80					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		CCGTGGGTCTCAGCTTGTGTC	0.428000													11	44					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103236934	103236934	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:103236934C>T	ENST00000424685.2	-	25	3667	c.3508G>A	c.(3508-3510)Gag>Aag	p.E1170K	RELN_ENST00000343529.5_Missense_Mutation_p.E1170K|RELN_ENST00000428762.1_Missense_Mutation_p.E1170K			P78509	RELN_HUMAN	reelin	1170					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AAGTACATCTCTGCTAGCAGG	0.502000													15	54					0	0	1	0	0
KLHL22	84861	broad.mit.edu	37	22	20796566	20796566	+	Missense_Mutation	SNP	C	C	T	rs139279490		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr22:20796566C>T	ENST00000328879.4	-	7	1855	c.1699G>A	c.(1699-1701)Gat>Aat	p.D567N	KLHL22_ENST00000440659.2_Missense_Mutation_p.D424N	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	567					cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			TTCTCCACATCGTAAATGTGC	0.622000													14	40					0	0	1	0	0
TRAIP	10293	broad.mit.edu	37	3	49885617	49885617	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:49885617C>G	ENST00000331456.2	-	2	228	c.115G>C	c.(115-117)Gag>Cag	p.E39Q	TRAIP_ENST00000469027.1_Missense_Mutation_p.E39Q|TRAIP_ENST00000473863.1_5'UTR	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	39					cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGTGCTGTCTCAAACCACTGA	0.512000													6	21					0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140482100	140482100	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:140482100G>A	ENST00000231130.2	+	1	1867	c.1867G>A	c.(1867-1869)Gaa>Aaa	p.E623K		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		623	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCACAATGGCGAAGTGCGCAC	0.711000													41	95					0	0	1	0	0
SMPD1	6609	broad.mit.edu	37	11	6412670	6412670	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:6412670G>A	ENST00000342245.4	+	2	543	c.375G>A	c.(373-375)ctG>ctA	p.L125L	SMPD1_ENST00000299397.3_Silent_p.L125L|SMPD1_ENST00000533196.1_Intron|SMPD1_ENST00000356761.2_Silent_p.L125L|SMPD1_ENST00000527275.1_Silent_p.L124L	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	123	Saposin B-type.				cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Desipramine(DB01151)	GCAATCTGCTGAAGATAGCAC	0.577000													10	23					0	0	1	0	0
FAM175A	84142	broad.mit.edu	37	4	84383664	84383664	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:84383664C>G	ENST00000321945.7	-	9	1296	c.1188G>C	c.(1186-1188)aaG>aaC	p.K396N	FAM175A_ENST00000506553.1_Missense_Mutation_p.K347N|MRPS18C_ENST00000509571.1_Intron	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN	family with sequence similarity 175, member A	396					chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						AACCCTTCATCTTTTCAATTT	0.358000													53	184					0	0	1	0	0
DRD3	1814	broad.mit.edu	37	3	113850160	113850160	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:113850160C>T	ENST00000383673.2	-	6	1241	c.811G>A	c.(811-813)Gaa>Aaa	p.E271K	DRD3_ENST00000467632.1_Missense_Mutation_p.E271K|DRD3_ENST00000295881.7_Missense_Mutation_p.E271K|DRD3_ENST00000460779.1_Missense_Mutation_p.E271K	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	271					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	CCTCCTCTTTCTTGGAAGCCT	0.542000													29	176					0	0	1	0	0
HOXB7	3217	broad.mit.edu	37	17	46688041	46688041	+	Silent	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:46688041G>C	ENST00000239165.7	-	1	338	c.240C>G	c.(238-240)ctC>ctG	p.L80L	HOXB7_ENST00000567101.1_Intron	NM_004502.3	NP_004493.3	P09629	HXB7_HUMAN	homeobox B7	80						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	8						AACTCGGCTCGAGCCCATAGC	0.721000													5	10					0	0	1	0	0
HEATR6	63897	broad.mit.edu	37	17	58121317	58121317	+	Missense_Mutation	SNP	C	C	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:58121317C>A	ENST00000184956.6	-	20	3169	c.3153G>T	c.(3151-3153)caG>caT	p.Q1051H	HEATR6_ENST00000585976.1_Missense_Mutation_p.Q939H	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	1051							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			CTTCACTCTTCTGTAAAGCGG	0.517000													43	138					1.57945e-13	1.67877e-13	1	1	0
MBD3	53615	broad.mit.edu	37	19	1582649	1582649	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:1582649C>T	ENST00000590550.2	-	3	676	c.303G>A	c.(301-303)aaG>aaA	p.K101K	MBD3_ENST00000592012.1_Silent_p.K125K|MBD3_ENST00000585967.1_5'UTR|MBD3_ENST00000156825.1_Silent_p.K157K|MBD3_ENST00000434436.3_Silent_p.K157K			O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	157					transcription, DNA-dependent	NuRD complex	DNA binding|protein binding			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTCCATGGTCTTGACCAGCT	0.632000													6	28					0	0	1	0	0
NEDD1	121441	broad.mit.edu	37	12	97330420	97330420	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:97330420C>G	ENST00000266742.4	+	8	1090	c.751C>G	c.(751-753)Cta>Gta	p.L251V	NEDD1_ENST00000429527.2_Missense_Mutation_p.L251V|NEDD1_ENST00000555114.1_3'UTR|NEDD1_ENST00000557644.1_Missense_Mutation_p.L258V|NEDD1_ENST00000457368.2_Missense_Mutation_p.L162V|NEDD1_ENST00000411739.2_Missense_Mutation_p.L162V	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	251					cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						TGACACTCCTCTAACTGCGGT	0.378000													13	60					0	0	1	0	0
SPPL2B	56928	broad.mit.edu	37	19	2340962	2340962	+	RNA	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:2340962C>G	ENST00000452401.2	+	0	983				AC005258.3_ENST00000590001.1_RNA			Q8TCT7	PSL1_HUMAN	signal peptide peptidase like 2B							Golgi membrane|integral to membrane	aspartic-type endopeptidase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCTGGCGCTCTTCTGCGTGG	0.697000													13	40					0	0	1	0	0
NOTCH2NL	388677	broad.mit.edu	37	1	145273251	145273251	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:145273251G>A	ENST00000369340.3	+	4	549	c.105G>A	c.(103-105)caG>caA	p.Q35Q	NOTCH2NL_ENST00000344859.3_Silent_p.Q35Q|RP11-458D21.5_ENST00000468030.1_Silent_p.Q35Q|NOTCH2NL_ENST00000362074.6_Silent_p.Q35Q			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	35	EGF-like 2.				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						ACCGCTGCCAGAATGGTGGGA	0.532000													12	160					0	0	1	0	0
TNS4	84951	broad.mit.edu	37	17	38638442	38638442	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:38638442G>A	ENST00000254051.6	-	8	1769	c.1611C>T	c.(1609-1611)ttC>ttT	p.F537F		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	537	SH2.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GCTGGCACACGAAGGCAGAGA	0.622000													6	32					0	0	1	0	0
METTL2A	339175	broad.mit.edu	37	17	60525120	60525120	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:60525120C>T	ENST00000311506.5	+	8	1011	c.975C>T	c.(973-975)ttC>ttT	p.F325F		NM_181725.3	NP_859076.3	Q96IZ6	MTL2A_HUMAN	methyltransferase like 2A	325							methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			TTTACTTCTTCACACAAGGTA	0.423000													55	211					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654457	38654457	+	RNA	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:38654457C>T	ENST00000494540.1	+	0	624					NR_003086.1																						ATTTCAGCCTCGAGGACTTCC	0.493000													19	44					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A	rs77484671		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3455								p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423000													6	80					0	0	1	0	0
DCST1	149095	broad.mit.edu	37	1	155018687	155018687	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:155018687G>A	ENST00000295542.1	+	12	1455	c.1359G>A	c.(1357-1359)atG>atA	p.M453I	DCST1_ENST00000368419.2_Missense_Mutation_p.M453I|DCST1_ENST00000423025.2_Missense_Mutation_p.M428I|DCST1_ENST00000392480.1_Missense_Mutation_p.M453I	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	453						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CCTCAGAAATGAGCAATGTGG	0.567000													9	58					0	0	1	0	0
C4orf40	401137	broad.mit.edu	37	4	71024498	71024498	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:71024498G>A	ENST00000344526.5	+	3	718	c.529G>A	c.(529-531)Gag>Aag	p.E177K	C4orf40_ENST00000502294.1_Missense_Mutation_p.E177K	NM_214711.3	NP_999876.2	Q6MZM9	CD040_HUMAN	chromosome 4 open reading frame 40	177	Ala-rich.					extracellular region				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TGTTGCAGCTGAGCCTGCTGC	0.637000													17	42					0	0	1	0	0
GDPGP1	390637	broad.mit.edu	37	15	90784881	90784881	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:90784881C>T	ENST00000558017.1	+	4	1161	c.741C>T	c.(739-741)ctC>ctT	p.L247L	GDPGP1_ENST00000329600.6_Silent_p.L247L	NM_001013657.2	NP_001013679.2	Q6ZNW5	VTC2_HUMAN	GDP-D-glucose phosphorylase 1	247					glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity										TGCATCTGCTCCAGGACCTCC	0.597000													17	63					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114158255	114158255	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:114158255C>T	ENST00000357077.4	+	6	649	c.596C>T	c.(595-597)gCc>gTc	p.A199V	ANK2_ENST00000264366.6_Missense_Mutation_p.A199V|ANK2_ENST00000394537.3_Missense_Mutation_p.A199V|ANK2_ENST00000506722.1_Missense_Mutation_p.A178V	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	199					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTGCATATTGCCGCTAGGAAA	0.512000													4	151					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58209159	58209159	+	Nonsense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr13:58209159C>T	ENST00000377918.3	+	1	2505	c.2479C>T	c.(2479-2481)Cag>Tag	p.Q827*		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	827					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GACTGTCCCTCAGGGGCACGC	0.597000													9	21					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131339775	131339775	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:131339775G>A	ENST00000372739.3	+	8	1185	c.1075G>A	c.(1075-1077)Gat>Aat	p.D359N	SPTAN1_ENST00000372731.4_Missense_Mutation_p.D359N|SPTAN1_ENST00000358161.5_Missense_Mutation_p.D359N	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	359					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						ACGGCTCAATGATTCATACAG	0.468000													24	66					0	0	1	0	0
FUT11	170384	broad.mit.edu	37	10	75535419	75535419	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:75535419C>T	ENST00000372841.3	+	3	1498	c.1455C>T	c.(1453-1455)atC>atT	p.I485I		NM_173540.2	NP_775811.2	Q495W5	FUT11_HUMAN	fucosyltransferase 11 (alpha (1,3) fucosyltransferase)	485					protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7	Prostate(51;0.0112)					TACATGAAATCTTCATGAAGA	0.453000													20	69					0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51251897	51251897	+	Splice_Site	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:51251897C>T	ENST00000395542.2	-	5	870		c.e5-1		COBL_ENST00000441453.1_Splice_Site|COBL_ENST00000265136.7_Splice_Site|COBL_ENST00000395540.2_Splice_Site			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein											NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CTAAAGGTTTCTGGAAAAAAA	0.279000													8	22					0	0	1	0	0
KIAA0513	9764	broad.mit.edu	37	16	85112592	85112592	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:85112592G>A	ENST00000566428.1	+	8	1516	c.885G>A	c.(883-885)ctG>ctA	p.L295L	KIAA0513_ENST00000258180.3_Silent_p.L295L|KIAA0513_ENST00000567328.1_Silent_p.L295L|KIAA0513_ENST00000538274.1_Silent_p.L295L			O60268	K0513_HUMAN	KIAA0513	295						cytoplasm				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		ACACGCACCTGAAGCAACAGC	0.592000													13	49					0	0	1	0	0
NAT1	9	broad.mit.edu	37	8	18080136	18080136	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr8:18080136C>G	ENST00000539092.1	+	5	1271	c.580C>G	c.(580-582)Ctt>Gtt	p.L194V	NAT1_ENST00000518029.1_Missense_Mutation_p.L194V|NAT1_ENST00000307719.4_Missense_Mutation_p.L194V|NAT1_ENST00000541942.1_Missense_Mutation_p.L194V|NAT1_ENST00000517441.1_3'UTR|NAT1_ENST00000520546.1_Missense_Mutation_p.L194V|NAT1_ENST00000535084.1_Missense_Mutation_p.L194V|NAT1_ENST00000545197.1_Missense_Mutation_p.L256V|NAT1_ENST00000517492.1_Missense_Mutation_p.L194V	NM_001160170.1|NM_001160172.1	NP_001153642.1|NP_001153644.1	P18440	ARY1_HUMAN	N-acetyltransferase 1 (arylamine N-acetyltransferase)	194					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(2)|urinary_tract(1)	9				Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208)		CTCCTTTACTCTTAAGCCTCG	0.363000													25	132					0	0	1	0	0
BATF2	116071	broad.mit.edu	37	11	64756793	64756793	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:64756793C>T	ENST00000301887.4	-	3	763	c.633G>A	c.(631-633)ctG>ctA	p.L211L	BATF2_ENST00000435842.2_Silent_p.L126L|BATF2_ENST00000527716.1_Silent_p.L187L	NM_138456.3	NP_612465.3	Q8N1L9	BATF2_HUMAN	basic leucine zipper transcription factor, ATF-like 2	211						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|skin(1)	9						TGGGATGCTCCAGCTCGAGGG	0.647000													17	41					0	0	1	0	0
FAM46C	54855	broad.mit.edu	37	1	118165963	118165963	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:118165963C>T	ENST00000369448.3	+	2	720	c.473C>T	c.(472-474)tCc>tTc	p.S158F		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	158										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		ATCTCCCTCTCCAACAAGAAC	0.493000			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)			25	99					0	0	1	0	0
TAS2R10	50839	broad.mit.edu	37	12	10978133	10978133	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:10978133C>T	ENST00000240619.2	-	1	824	c.736G>A	c.(736-738)Gaa>Aaa	p.E246K		NM_023921.1	NP_076410.1	Q9NYW0	T2R10_HUMAN	taste receptor, type 2, member 10	246					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CATGATATTTCTATGGCCATG	0.378000													37	111					0	0	1	0	0
COL4A3BP	10087	broad.mit.edu	37	5	74721288	74721288	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:74721288C>G	ENST00000380494.5	-	6	1170	c.877G>C	c.(877-879)Gaa>Caa	p.E293Q	COL4A3BP_ENST00000405807.4_Missense_Mutation_p.E165Q|COL4A3BP_ENST00000261415.7_Missense_Mutation_p.E165Q	NM_001130105.1	NP_001123577.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	165					ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		CTAAATGTTTCCATTTCAGCC	0.388000													30	78					0	0	1	0	0
GIPC1	10755	broad.mit.edu	37	19	14591135	14591135	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:14591135C>T	ENST00000393033.4	-	6	906	c.637G>A	c.(637-639)Gag>Aag	p.E213K	GIPC1_ENST00000393028.1_Missense_Mutation_p.E116K|GIPC1_ENST00000345425.2_Missense_Mutation_p.E213K|GIPC1_ENST00000393029.3_Missense_Mutation_p.E116K|GIPC1_ENST00000591349.1_Missense_Mutation_p.E116K|GIPC1_ENST00000586027.1_Missense_Mutation_p.E213K	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	213	PDZ.				endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						TTGCGAGGCTCCGTGAGCTTC	0.716000											OREG0025316	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	35					0	0	1	0	0
CNTRL	11064	broad.mit.edu	37	9	123937392	123937392	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:123937392G>A	ENST00000373855.1	+	43	7104	c.6844G>A	c.(6844-6846)Gat>Aat	p.D2282N	CNTRL_ENST00000373850.1_Missense_Mutation_p.D1730N|CNTRL_ENST00000238341.5_Missense_Mutation_p.D2282N|CNTRL_ENST00000373845.2_3'UTR			Q7Z7A1	CNTRL_HUMAN	centriolin	2282	Sufficient for interaction with HOOK2.				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						GAGACAAGTAGATGCTTTAGG	0.498000													25	95					0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94671233	94671233	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:94671233C>T	ENST00000260526.6	-	6	699	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K	ARHGAP29_ENST00000370217.3_Missense_Mutation_p.E173K	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	173					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		GAAACATTTTCAAACGACTTA	0.308000													25	114					0	0	1	0	0
MVP	9961	broad.mit.edu	37	16	29858706	29858706	+	Splice_Site	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:29858706G>A	ENST00000357402.5	+	14	2592	c.2454_splice	c.e14+1	p.Q818_splice	MVP_ENST00000395353.1_Splice_Site_p.Q818_splice	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	818					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						CTGAGATGCAGGTGAGAGTTG	0.552000													6	14					0	0	1	0	0
CCRL2	9034	broad.mit.edu	37	3	46449886	46449886	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:46449886C>T	ENST00000399036.3	+	2	668	c.316C>T	c.(316-318)Ctc>Ttc	p.L106F	ACKR5_ENST00000400882.2_Missense_Mutation_p.L106F|ACKR5_ENST00000400880.3_Missense_Mutation_p.L106F|ACKR5_ENST00000357392.4_Missense_Mutation_p.L118F	NM_003965.4	NP_003956.2																					GTGTAAAATTCTCATTGGACT	0.433000													28	103					0	0	1	0	0
LRRC23	10233	broad.mit.edu	37	12	7014813	7014813	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:7014813G>A	ENST00000007969.8	+	2	236	c.16G>A	c.(16-18)Gat>Aat	p.D6N	LRRC23_ENST00000429740.1_Missense_Mutation_p.D6N|LRRC23_ENST00000433346.1_Missense_Mutation_p.D6N|LRRC23_ENST00000449039.1_3'UTR|LRRC23_ENST00000436789.1_Missense_Mutation_p.D6N|LRRC23_ENST00000443597.2_Missense_Mutation_p.D6N|LRRC23_ENST00000323702.5_Missense_Mutation_p.D6N	NM_001135217.1|NM_201650.2	NP_001128689.1|NP_964013.1	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23	6										NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						AGATGAAGATGATCTAGAAGA	0.488000													19	83					0	0	1	0	0
RFX7	64864	broad.mit.edu	37	15	56387817	56387817	+	Silent	SNP	C	C	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:56387817C>A	ENST00000423270.1	-	9	2108	c.2109G>T	c.(2107-2109)ggG>ggT	p.G703G	RFX7_ENST00000422057.1_Silent_p.G606G|RFX7_ENST00000559447.2_Silent_p.G606G|RFX7_ENST00000317318.6_Silent_p.G703G	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	606					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CTTCTGTTTTCCCTGAATGTG	0.448000													23	82					3.62473e-10	3.79302e-10	1	1	0
MED17	9440	broad.mit.edu	37	11	93529598	93529598	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:93529598G>A	ENST00000251871.3	+	7	1322	c.1035G>A	c.(1033-1035)ttG>ttA	p.L345L	MED17_ENST00000533367.1_3'UTR	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	345					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CTATTTCTTTGTGCCATTCCT	0.343000													22	76					0	0	1	0	0
USP16	10600	broad.mit.edu	37	21	30414333	30414333	+	Splice_Site	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr21:30414333G>C	ENST00000334352.4	+	12	1261		c.e12-1		USP16_ENST00000399975.3_Splice_Site|USP16_ENST00000399976.2_Splice_Site|USP16_ENST00000535828.1_Intron	NM_001032410.1	NP_001027582.1	Q9Y5T5	UBP16_HUMAN	ubiquitin specific peptidase 16						cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						TTTCTCCATAGATTATGAGAA	0.294000													4	26					0	0	1	0	0
NCOA5	57727	broad.mit.edu	37	20	44699104	44699104	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:44699104C>T	ENST00000290231.6	-	3	274	c.110G>A	c.(109-111)aGa>aAa	p.R37K		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	37	Arg/Asp-rich (mixed charge).|Transcription repression.				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				CCTGGGCTCTCTCCTTGGACT	0.547000													7	153					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139396248	139396248	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:139396248G>A	ENST00000277541.6	-	30	5665	c.5590C>T	c.(5590-5592)Cag>Tag	p.Q1864*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1864					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ACCTCACCCTGGGGCGGTGTG	0.672000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			19	15					0	0	1	0	0
MTUS1	57509	broad.mit.edu	37	8	17504494	17504494	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr8:17504494G>A	ENST00000381869.3	-	13	3907	c.3434C>T	c.(3433-3435)tCa>tTa	p.S1145L	MTUS1_ENST00000400046.1_Missense_Mutation_p.S271L|MTUS1_ENST00000519263.1_Missense_Mutation_p.S1145L|MTUS1_ENST00000544260.1_Missense_Mutation_p.S344L|MTUS1_ENST00000262102.6_Missense_Mutation_p.S1199L|MTUS1_ENST00000297488.6_Missense_Mutation_p.S365L|MTUS1_ENST00000381861.3_Missense_Mutation_p.S446L	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	1199						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TTTTTACCTTGAGATTGCCAT	0.488000													24	73					0	0	1	0	0
INTS9	55756	broad.mit.edu	37	8	28651377	28651377	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr8:28651377G>A	ENST00000416984.2	-	9	1280	c.921C>T	c.(919-921)ttC>ttT	p.F307F	INTS9_ENST00000397363.4_Silent_p.F222F|INTS9_ENST00000521777.1_Silent_p.F304F|INTS9_ENST00000521022.1_Silent_p.F328F	NM_001145159.2	NP_001138631.1	Q9NV88	INT9_HUMAN	integrator complex subunit 9	328					snRNA processing	integrator complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		CAGGGGAGATGAAGTAGAGGG	0.468000													14	62					0	0	1	0	0
BTBD2	55643	broad.mit.edu	37	19	1990034	1990034	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:1990034G>A	ENST00000255608.4	-	5	973	c.957C>T	c.(955-957)ttC>ttT	p.F319F	AC005306.3_ENST00000588480.1_RNA|AC005306.3_ENST00000587498.1_RNA	NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	319						cytoplasmic mRNA processing body	protein binding			endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCATGAGCGGGAAGCGAATGA	0.642000													7	58					0	0	1	0	0
GPR149	344758	broad.mit.edu	37	3	154138881	154138881	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:154138881C>G	ENST00000389740.2	-	3	1669	c.1570G>C	c.(1570-1572)Gat>Cat	p.D524H		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	524						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TCTGAAAGATCTGGTTTCTGA	0.393000													23	127					0	0	1	0	0
IGSF9	57549	broad.mit.edu	37	1	159906269	159906269	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:159906269C>G	ENST00000368094.1	-	6	790	c.593G>C	c.(592-594)cGa>cCa	p.R198P	IGSF9_ENST00000361509.3_Missense_Mutation_p.R198P	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	198	Ig-like 2.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			AGAGCTGCCTCGCTCTACCCG	0.657000											OREG0013921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	36					0	0	1	0	0
GFER	2671	broad.mit.edu	37	16	2035901	2035901	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:2035901G>A	ENST00000248114.6	+	3	496	c.490G>A	c.(490-492)Gca>Aca	p.A164T	AC005606.14_ENST00000564438.1_lincRNA|GFER_ENST00000567719.1_Missense_Mutation_p.A89T|GFER_ENST00000569451.1_Missense_Mutation_p.G98D	NM_005262.2	NP_005253.3	P55789	ALR_HUMAN	growth factor, augmenter of liver regeneration	164	ERV/ALR sulfhydryl oxidase.				cell proliferation|spermatogenesis	extracellular region|mitochondrial intermembrane space	growth factor activity|thiol oxidase activity			endometrium(1)|large_intestine(1)|lung(3)	5						CCGCACCCGGGCATGCTTCAC	0.607000													4	137					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16260202	16260202	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:16260202C>G	ENST00000375759.3	+	11	7671	c.7467C>G	c.(7465-7467)atC>atG	p.I2489M		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2489	Pro-rich.|RID.				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)		CTGGGGGGATCCCACACCAGA	0.602000													30	99					0	0	1	0	0
CLCNKB	1188	broad.mit.edu	37	1	16378708	16378708	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:16378708C>T	ENST00000375679.4	+	15	1535	c.1424C>T	c.(1423-1425)tCa>tTa	p.S475L	CLCNKB_ENST00000375667.3_Missense_Mutation_p.S306L	NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGCCTTCTCAGGGGCTGTG	0.682000													10	62					0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42214269	42214269	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:42214269C>G	ENST00000541110.1	-	14	3298	c.2730G>C	c.(2728-2730)tgG>tgC	p.W910C	TRERF1_ENST00000372917.4_Missense_Mutation_p.W807C|TRERF1_ENST00000372922.4_Missense_Mutation_p.W890C|TRERF1_ENST00000354325.2_Missense_Mutation_p.W807C|TRERF1_ENST00000340840.2_Missense_Mutation_p.W807C			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	890	Interacts with CREBBP.|SANT.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTAGGGAGGTCCACTTGTCCG	0.383000													10	93					0	0	1	0	0
NAALADL2	254827	broad.mit.edu	37	3	175520802	175520802	+	Silent	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:175520802C>G	ENST00000454872.1	+	14	2327	c.2199C>G	c.(2197-2199)ctC>ctG	p.L733L		NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	733					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		GAAACATCCTCTACCACCTTG	0.373000													8	40					0	0	1	0	0
CASC5	57082	broad.mit.edu	37	15	40949621	40949621	+	Missense_Mutation	SNP	G	G	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:40949621G>T	ENST00000346991.5	+	25	7131	c.6741G>T	c.(6739-6741)aaG>aaT	p.K2247N	CASC5_ENST00000399668.2_Missense_Mutation_p.K2221N			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	2247	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		AGTATTTAAAGAGATGGGGAC	0.363000													30	119					2.46105e-21	2.63491e-21	1	1	0
REG1P	5969	broad.mit.edu	37	2	79363990	79363990	+	RNA	SNP	A	A	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:79363990A>T	ENST00000444841.1	-	0	348																											GAAGCCACAAAGGCACCCTCA	0.527000													11	39					0	0	1	0	0
PPM1H	57460	broad.mit.edu	37	12	63226041	63226041	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:63226041C>G	ENST00000228705.6	-	2	564	c.264G>C	c.(262-264)aaG>aaC	p.K88N		NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	88							phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		TGTGTGTGCTCTTCCCGGCAT	0.542000													7	14					0	0	1	0	0
FASTKD3	79072	broad.mit.edu	37	5	7867058	7867058	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:7867058C>G	ENST00000264669.5	-	2	1275	c.1139G>C	c.(1138-1140)aGa>aCa	p.R380T	MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	380					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	p.R380K(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AATCAGTTCTCTACTGCAGTA	0.438000													25	78					0	0	1	0	0
ZNF626	199777	broad.mit.edu	37	19	20807837	20807837	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:20807837C>T	ENST00000601440.1	-	4	992	c.846G>A	c.(844-846)aaG>aaA	p.K282K	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	282					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P284fs*5(1)		breast(1)|endometrium(1)|lung(3)|skin(1)	6						TGTAGGGTTTCTTTTCCGTAT	0.388000													74	144					0	0	1	0	0
CDK15	65061	broad.mit.edu	37	2	202671425	202671425	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:202671425G>C	ENST00000450471.2	+	1	124	c.38G>C	c.(37-39)gGa>gCa	p.G13A	CDK15_ENST00000434439.1_Missense_Mutation_p.G13A|CDK15_ENST00000260967.2_Intron|CDK15_ENST00000410091.3_Intron|CDK15_ENST00000488419.1_3'UTR|CDK15_ENST00000374598.4_Missense_Mutation_p.G13A	NM_001261435.1	NP_001248364.1	Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	13							ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	GTACAGCCTGGATGCAGCTGC	0.537000													11	25					0	0	1	0	0
PRPF39	55015	broad.mit.edu	37	14	45584108	45584108	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr14:45584108C>G	ENST00000355765.6	+	14	2172	c.2002C>G	c.(2002-2004)Cca>Gca	p.P668A		NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN	pre-mRNA processing factor 39	668	Poly-Pro.				mRNA processing|RNA splicing	nucleus	binding			breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						TCCTCCCCCTCCAACCTGATG	0.323000													14	44					0	0	1	0	0
DHX15	1665	broad.mit.edu	37	4	24550530	24550530	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:24550530C>T	ENST00000336812.4	-	6	1352	c.1196G>A	c.(1195-1197)cGc>cAc	p.R399H		NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	399	Helicase C-terminal.				mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				CTCAAAAATGCGTTGCTGCTG	0.363000													17	75					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36873775	36873775	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:36873775G>A	ENST00000429976.2	-	21	7414	c.7167C>T	c.(7165-7167)ttC>ttT	p.F2389F	TRANK1_ENST00000428977.2_Silent_p.F1839F|TRANK1_ENST00000301807.6_Silent_p.F1839F			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2389					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GGACATTCATGAAACGGAAAA	0.493000													34	89					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62287462	62287462	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:62287462G>A	ENST00000378024.4	-	5	14701	c.14427C>T	c.(14425-14427)atC>atT	p.I4809I	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4809					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCGAGACATCGATGTCGGCCT	0.512000													120	288					0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103896	53103896	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:53103896C>G	ENST00000408890.4	+	1	548	c.532C>G	c.(532-534)Ctg>Gtg	p.L178V		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	178										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCGGGAGACTCTGCTGGGGGC	0.701000													10	29					0	0	1	0	0
CKB	1152	broad.mit.edu	37	14	103987706	103987706	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr14:103987706C>T	ENST00000348956.2	-	5	904	c.547G>A	c.(547-549)Gag>Aag	p.E183K		NM_001823.4	NP_001814.2	P12277	KCRB_HUMAN	creatine kinase, brain	183	Phosphagen kinase C-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity			lung(2)|prostate(1)	3		Melanoma(154;0.155)	Epithelial(46;0.14)		Creatine(DB00148)	TGCTGCTGCTCCGCCTCCGTC	0.716000													6	21					0	0	1	0	0
INPPL1	3636	broad.mit.edu	37	11	71941167	71941167	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:71941167G>A	ENST00000298229.2	+	9	1146	c.942G>A	c.(940-942)gtG>gtA	p.V314V	INPPL1_ENST00000541756.1_Silent_p.V72V|INPPL1_ENST00000538751.1_Silent_p.V72V	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	314					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GCCTACAGGTGAAGCTAGATG	0.617000													6	37					0	0	1	0	0
GNB3	2784	broad.mit.edu	37	12	6954844	6954844	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:6954844C>T	ENST00000229264.3	+	10	1199	c.794C>T	c.(793-795)tCc>tTc	p.S265F	GNB3_ENST00000435982.2_Missense_Mutation_p.S264F|CDCA3_ENST00000422785.3_3'UTR|CDCA3_ENST00000604599.1_5'UTR	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	265					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						ATCTGCTTCTCCCACGAGAGC	0.597000													37	161					0	0	1	0	0
P2RY1	5028	broad.mit.edu	37	3	152554482	152554482	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:152554482C>T	ENST00000305097.3	+	1	1747	c.911C>T	c.(910-912)gCc>gTc	p.A304V		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	304					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			AGGGTTTATGCCACGTATCAG	0.478000													6	172					0	0	1	0	0
DCST1	149095	broad.mit.edu	37	1	155019772	155019772	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:155019772G>A	ENST00000295542.1	+	14	1692	c.1596G>A	c.(1594-1596)atG>atA	p.M532I	DCST1_ENST00000368419.2_Missense_Mutation_p.M532I|DCST1_ENST00000423025.2_Missense_Mutation_p.M507I|DCST1_ENST00000392480.1_Missense_Mutation_p.M532I	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	532						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			AGACAGTGATGGAATCAAACA	0.527000													11	42					0	0	1	0	0
TPRX1	284355	broad.mit.edu	37	19	48305262	48305262	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:48305262G>A	ENST00000535759.1	-	4	1296	c.1297C>T	c.(1297-1299)Cag>Tag	p.Q433*	TPRX1_ENST00000322175.3_Nonsense_Mutation_p.Q336*|TPRX1_ENST00000543508.1_Nonsense_Mutation_p.Q326*			Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	336						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		TCGGGGCTCTGAGGCCATAAG	0.622000													13	46					0	0	1	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296167	39296167	+	Silent	SNP	A	A	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:39296167A>G	ENST00000345847.4	-	1	572	c.573T>C	c.(571-573)atT>atC	p.I191I		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	187						keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						GGCAGGTGGAAATGACACAGG	0.627000													3	15					0	0	1	0	0
ANKRD26	22852	broad.mit.edu	37	10	27324114	27324114	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:27324114C>T	ENST00000376087.4	-	24	3430	c.3265G>A	c.(3265-3267)Gaa>Aaa	p.E1089K	ANKRD26_ENST00000376070.3_Missense_Mutation_p.E646K|ANKRD26_ENST00000436985.2_Missense_Mutation_p.E1105K	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1088						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						AAAGTCTTTTCTCTGAGGGCA	0.348000													53	209					0	0	1	0	0
C12orf60	144608	broad.mit.edu	37	12	14976313	14976313	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:14976313C>T	ENST00000330828.2	+	2	648	c.444C>T	c.(442-444)atC>atT	p.I148I	C12orf60_ENST00000527783.1_Intron	NM_175874.3	NP_787070.2	Q5U649	CL060_HUMAN	chromosome 12 open reading frame 60	148										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						AATTCCCCATCATGAATCTTC	0.423000													27	72					0	0	1	0	0
PRKAA1	5562	broad.mit.edu	37	5	40762911	40762911	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:40762911C>G	ENST00000397128.2	-	9	1657	c.1649G>C	c.(1648-1650)tGt>tCt	p.C550S	PRKAA1_ENST00000354209.3_Missense_Mutation_p.C565S	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	550					activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding			breast(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	TAGATTTGCACACATCTCAAA	0.363000													20	71					0	0	1	0	0
CCPG1	9236	broad.mit.edu	37	15	55681565	55681565	+	Nonsense_Mutation	SNP	C	C	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:55681565C>A	ENST00000310958.6	-	2	356	c.58G>T	c.(58-60)Gag>Tag	p.E20*	DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000442196.3_Nonsense_Mutation_p.E20*|CCPG1_ENST00000425574.3_Nonsense_Mutation_p.E20*|CCPG1_ENST00000569205.1_Nonsense_Mutation_p.E20*	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	20	Interaction with MCF2L and SRC (By similarity).				cell cycle	integral to membrane				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		TATCATACCTCATGACTGATG	0.313000													17	65					5.3912e-06	5.51673e-06	1	1	0
RFX7	64864	broad.mit.edu	37	15	56388287	56388287	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:56388287C>T	ENST00000423270.1	-	9	1638	c.1639G>A	c.(1639-1641)Gag>Aag	p.E547K	RFX7_ENST00000422057.1_Missense_Mutation_p.E450K|RFX7_ENST00000559447.2_Missense_Mutation_p.E450K|RFX7_ENST00000317318.6_Missense_Mutation_p.E547K	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	450					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						ACAGGATGCTCATCTGATGAT	0.532000													12	43					0	0	1	0	0
HOXB6	3216	broad.mit.edu	37	17	46674031	46674031	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:46674031G>A	ENST00000484302.2	-	3	1041	c.419C>T	c.(418-420)tCc>tTc	p.S140F	HOXB-AS3_ENST00000466037.2_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000477144.1_RNA|HOXB-AS3_ENST00000481995.1_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000460041.1_RNA|HOXB-AS3_ENST00000474324.1_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB6_ENST00000225648.3_Missense_Mutation_p.S140F			P17509	HXB6_HUMAN	homeobox B6	140					anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)	7						CCCAAAGGAGGAACCTGTTAC	0.637000													19	68					0	0	1	0	0
CCDC8	83987	broad.mit.edu	37	19	46914652	46914652	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:46914652C>T	ENST00000307522.3	-	1	2189	c.1416G>A	c.(1414-1416)cgG>cgA	p.R472R		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	472						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		TGACCTGTTTCCGGGCCCTGG	0.612000													18	51					0	0	1	0	0
SFMBT2	57713	broad.mit.edu	37	10	7423790	7423790	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:7423790G>A	ENST00000361972.4	-	2	161	c.71C>T	c.(70-72)tCa>tTa	p.S24L	SFMBT2_ENST00000397167.1_Missense_Mutation_p.S24L|SFMBT2_ENST00000397160.3_Missense_Mutation_p.S24L|SFMBT2_ENST00000379711.2_Missense_Mutation_p.S24L|SFMBT2_ENST00000379713.3_Missense_Mutation_p.S24L	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	24					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TCCATTAGCTGAGCCGAGACA	0.408000													11	59					0	0	1	0	0
DNM3	26052	broad.mit.edu	37	1	172013590	172013590	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:172013590C>T	ENST00000358155.4	+	9	1370	c.1194C>T	c.(1192-1194)atC>atT	p.I398I	DNM3_ENST00000367733.2_Silent_p.I398I|DNM3_ENST00000520906.1_Silent_p.I398I|DNM3_ENST00000367731.1_Silent_p.I398I|DNM3_ENST00000355305.5_Silent_p.I398I	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	398					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TACATGGTATCAGGCAAGTGA	0.338000													5	15					0	0	1	0	0
TNKS	8658	broad.mit.edu	37	8	9567785	9567785	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr8:9567785C>G	ENST00000520408.1	+	11	1830	c.1804C>G	c.(1804-1806)Ctt>Gtt	p.L602V	TNKS_ENST00000518281.1_Intron|TNKS_ENST00000310430.6_Intron			O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	595					mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		GCCAGCTGCTCTTAACACTGC	0.433000													9	31					0	0	1	0	0
MS4A7	58475	broad.mit.edu	37	11	60150648	60150648	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:60150648C>G	ENST00000358246.1	+	2	227	c.34C>G	c.(34-36)Cac>Gac	p.H12D	MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000300184.3_Missense_Mutation_p.H12D|MS4A7_ENST00000530234.2_Missense_Mutation_p.H12D|MS4A7_ENST00000534016.1_Missense_Mutation_p.H12D	NM_206938.1|NM_206940.1	NP_996821.1|NP_996823.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	12						integral to membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						GGGGGTTTCTCACAGCTTTAC	0.448000													24	88					0	0	1	0	0
UPF2	26019	broad.mit.edu	37	10	12006030	12006030	+	Missense_Mutation	SNP	T	T	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:12006030T>A	ENST00000356352.2	-	10	2635	c.2162A>T	c.(2161-2163)cAc>cTc	p.H721L	UPF2_ENST00000357604.5_Missense_Mutation_p.H721L|UPF2_ENST00000397053.2_Missense_Mutation_p.H721L			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	721	MIF4G 2.|Sufficient for interaction with UPF3A and UPF3B.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				GGTCCTCAGGTGAGATTCTGG	0.453000													41	130					0	0	1	0	0
ZFP91	80829	broad.mit.edu	37	11	58384275	58384275	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:58384275G>A	ENST00000316059.6	+	10	1360	c.1189G>A	c.(1189-1191)Gag>Aag	p.E397K	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.E397K	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	397					activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				TCACACTGGCGAGAAGCCATT	0.423000													7	36					0	0	1	0	0
TOLLIP	54472	broad.mit.edu	37	11	1309868	1309868	+	Missense_Mutation	SNP	C	C	T	rs144024538		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:1309868C>T	ENST00000527886.1	-	4	678	c.298G>A	c.(298-300)Gtc>Atc	p.V100I	TOLLIP_ENST00000542915.1_Missense_Mutation_p.V119I|TOLLIP_ENST00000527938.1_Intron|TOLLIP_ENST00000317204.6_Missense_Mutation_p.V169I|TOLLIP_ENST00000263646.7_Missense_Mutation_p.V141I|TOLLIP_ENST00000528719.1_5'UTR|TOLLIP_ENST00000525159.1_Missense_Mutation_p.V108I			Q9H0E2	TOLIP_HUMAN	toll interacting protein	169	C2.				cell-cell signaling|inflammatory response|innate immune response|intracellular signal transduction|leukocyte activation|phosphorylation	cytosol|interleukin-1 receptor complex|interleukin-18 receptor complex	kinase binding|signal transducer activity|Toll-like receptor binding			large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_cancers(49;7.62e-05)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00152)|Lung(200;0.09)|LUSC - Lung squamous cell carcinoma(625;0.107)		TAGGACATGACGAGGTTGATC	0.647000													3	24					0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19027917	19027917	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:19027917G>A	ENST00000421369.3	+	3	685	c.127G>A	c.(127-129)Gaa>Aaa	p.E43K	TMC7_ENST00000304381.5_Missense_Mutation_p.E153K|TMC7_ENST00000569532.1_Missense_Mutation_p.E153K	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	153						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						CCGCAGCATAGAAGGTATGCT	0.552000													12	26					0	0	1	0	0
RSPO4	343637	broad.mit.edu	37	20	948705	948705	+	Missense_Mutation	SNP	C	C	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:948705C>A	ENST00000217260.4	-	2	252	c.156G>T	c.(154-156)caG>caT	p.Q52H	RSPO4_ENST00000400634.2_Missense_Mutation_p.Q52H	NM_001029871.3	NP_001025042.2	Q2I0M5	RSPO4_HUMAN	R-spondin 4	52					Wnt receptor signaling pathway	extracellular region	heparin binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						GGAAGAGCCTCTGCTGGCAGG	0.637000													20	81					1.96292e-10	2.05651e-10	1	1	0
NUP153	9972	broad.mit.edu	37	6	17626393	17626393	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:17626393G>A	ENST00000262077.2	-	19	3546	c.3547C>T	c.(3547-3549)Caa>Taa	p.Q1183*	NUP153_ENST00000537253.1_Nonsense_Mutation_p.Q1214*	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	1183					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GCTGCACCTTGATCTGTAAGA	0.388000													15	44					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235915397	235915397	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:235915397C>T	ENST00000389794.3	-	27	7709	c.7535G>A	c.(7534-7536)tGc>tAc	p.C2512Y	LYST_ENST00000389793.2_Missense_Mutation_p.C2512Y			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2512					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGAGGAACTGCAAGCATGAAT	0.328000													5	100					0	0	1	0	0
GIGYF2	26058	broad.mit.edu	37	2	233671332	233671332	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:233671332C>T	ENST00000373566.3	+	16	2034	c.1837C>T	c.(1837-1839)Ccc>Tcc	p.P613S	GIGYF2_ENST00000373563.4_Missense_Mutation_p.P591S|GIGYF2_ENST00000409196.3_Missense_Mutation_p.P585S|GIGYF2_ENST00000409480.1_Missense_Mutation_p.P613S|GIGYF2_ENST00000409547.1_Missense_Mutation_p.P591S|GIGYF2_ENST00000409451.3_Missense_Mutation_p.P612S|GIGYF2_ENST00000452341.2_Missense_Mutation_p.P422S			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	591	Gln-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GGGAAGGGTTCCCTTTTCTCC	0.443000													58	137					0	0	1	0	0
RNLS	55328	broad.mit.edu	37	10	90332795	90332795	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:90332795G>C	ENST00000371947.3	-	4	1730	c.391C>G	c.(391-393)Cgt>Ggt	p.R131G	RNLS_ENST00000437752.1_Missense_Mutation_p.R48G|RNLS_ENST00000466945.1_Intron|RNLS_ENST00000331772.4_Missense_Mutation_p.R131G	NM_018363.3	NP_060833.1	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	131						extracellular region	oxidoreductase activity			breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						TGTGTCACACGATGTCTGAAG	0.413000													35	130					0	0	1	0	0
GNA15	2769	broad.mit.edu	37	19	3151812	3151812	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:3151812C>T	ENST00000262958.3	+	4	851	c.593C>T	c.(592-594)tCc>tTc	p.S198F	AC005264.2_ENST00000587587.1_RNA	NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	198					activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		TACTGCTTCTCCGTGCAGAAA	0.647000													17	94					0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	131976140	131976140	+	Missense_Mutation	SNP	G	G	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:131976140G>T	ENST00000356920.5	+	1	259	c.165G>T	c.(163-165)aaG>aaT	p.K55N	PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.K55N	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	55							ATP binding										CTGCTATGAAGACACTCAGGA	0.607000													86	242					2.1459e-41	2.31158e-41	1	1	0
MKI67	4288	broad.mit.edu	37	10	129902688	129902688	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:129902688G>C	ENST00000368654.3	-	13	7791	c.7416C>G	c.(7414-7416)ttC>ttG	p.F2472L	MKI67_ENST00000368653.3_Missense_Mutation_p.F2112L	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2472	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTGAGGTTTTGAATGACTCTG	0.468000													60	190					0	0	1	0	0
PTGES3L-AARSD1	100885850	broad.mit.edu	37	17	41131266	41131266	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:41131266G>A	ENST00000421990.2	-	4	683	c.338C>T	c.(337-339)tCt>tTt	p.S113F	PTGES3L_ENST00000453594.1_Intron|PTGES3L_ENST00000409446.3_Missense_Mutation_p.S75F|PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.S52F|PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.S52F|PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.S113F	NM_001136042.2	NP_001129514.2																					AGAGCGGGAAGAGCGCTTATC	0.522000													61	180					0	0	1	0	0
SCRN1	9805	broad.mit.edu	37	7	29983663	29983663	+	Silent	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:29983663C>G	ENST00000426154.1	-	4	650	c.474G>C	c.(472-474)ctG>ctC	p.L158L	SCRN1_ENST00000409497.1_Silent_p.L158L|SCRN1_ENST00000416113.2_Silent_p.L49L|SCRN1_ENST00000242059.5_Silent_p.L158L|SCRN1_ENST00000494620.1_5'UTR	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	158					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						GATCCACAATCAGATATGCAC	0.488000													23	80					0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167852773	167852773	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:167852773C>T	ENST00000367848.1	-	9	1143	c.646G>A	c.(646-648)Gaa>Aaa	p.E216K	ADCY10_ENST00000367851.4_Missense_Mutation_p.E308K|ADCY10_ENST00000545172.1_Missense_Mutation_p.E155K			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	308					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CCTATCTCTTCTGCTTTGTCT	0.433000													38	131					0	0	1	0	0
GPR50	9248	broad.mit.edu	37	X	150348595	150348595	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:150348595C>T	ENST00000218316.3	+	2	609	c.540C>T	c.(538-540)ttC>ttT	p.F180F		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	180					cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGCATCTTCAACTATCTGA	0.527000													42	39					0	0	1	0	0
IGSF22	283284	broad.mit.edu	37	11	18735431	18735431	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:18735431G>A	ENST00000513874.1	-	14	2202	c.2063C>T	c.(2062-2064)tCa>tTa	p.S688L	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	688	Ig-like 4.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						GGCCGTGGCTGAGCCGTGGTC	0.637000													7	19					0	0	1	0	0
EHD2	30846	broad.mit.edu	37	19	48220235	48220235	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:48220235C>T	ENST00000263277.3	+	2	617	c.366C>T	c.(364-366)ttC>ttT	p.F122F	EHD2_ENST00000538399.1_Intron|CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	122					blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		ACAAGCCCTTCCGCAAACTCA	0.602000													16	56					0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	73046848	73046848	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:73046848G>A	ENST00000261180.4	+	17	2857	c.2761G>A	c.(2761-2763)Gat>Aat	p.D921N		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	921					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						AGATGCAATTGATGTCATAAT	0.353000													25	63					0	0	1	0	0
CENPB	1059	broad.mit.edu	37	20	3766568	3766568	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:3766568G>A	ENST00000379751.4	-	1	769	c.563C>T	c.(562-564)tCg>tTg	p.S188L		NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	188					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						CACGTCCTGCGAGGCGTAGCC	0.731000													15	56					0	0	1	0	0
KIF3B	9371	broad.mit.edu	37	20	30898122	30898122	+	Missense_Mutation	SNP	C	C	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:30898122C>A	ENST00000375712.3	+	2	709	c.542C>A	c.(541-543)tCc>tAc	p.S181Y		NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	181	Kinesin-motor.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GACCTGTCTTCCTTTGTCACC	0.498000													22	264					1.10513e-12	1.17179e-12	1	1	0
BMPR1B	658	broad.mit.edu	37	4	96046263	96046263	+	Silent	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:96046263C>G	ENST00000515059.1	+	8	859	c.576C>G	c.(574-576)ctC>ctG	p.L192L	BMPR1B_ENST00000440890.2_Silent_p.L222L|BMPR1B_ENST00000394931.1_Silent_p.L192L|BMPR1B_ENST00000264568.4_Silent_p.L192L	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	192	GS.				BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		GATCAGGCCTCCCTCTGCTGG	0.423000													13	74					0	0	1	0	0
EFCC1	79825	broad.mit.edu	37	3	128758660	128758660	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:128758660C>T	ENST00000436022.2	+	8	1766	c.455C>T	c.(454-456)gCg>gTg	p.A152V	EFCC1_ENST00000480450.1_Missense_Mutation_p.A589V	NM_024768.2	NP_079044.2			EF-hand and coiled-coil domain containing 1																		GCAGCAGCTGCGCTCACCAAC	0.662000													13	66					0	0	1	0	0
PPP1R12B	4660	broad.mit.edu	37	1	202464798	202464798	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:202464798C>G	ENST00000406302.3	+	17	2589	c.2436C>G	c.(2434-2436)ttC>ttG	p.F812L	PPP1R12B_ENST00000391959.3_Missense_Mutation_p.F38L|PPP1R12B_ENST00000290419.5_3'UTR|PPP1R12B_ENST00000336894.4_Missense_Mutation_p.F812L|PPP1R12B_ENST00000367270.4_Missense_Mutation_p.F38L	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	812					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity	p.F812F(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			GCATCAATTTCTGGACAAAGG	0.473000													15	74					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94152935	94152935	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr14:94152935G>A	ENST00000553484.1	+	45	7174	c.7020G>A	c.(7018-7020)atG>atA	p.M2340I	UNC79_ENST00000393151.2_Missense_Mutation_p.M2318I|UNC79_ENST00000555664.1_Missense_Mutation_p.M2279I|UNC79_ENST00000256339.4_Missense_Mutation_p.M2141I			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2318						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CTGCAGCGATGGAGTGTGTGA	0.512000													11	41					0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109793608	109793608	+	Nonsense_Mutation	SNP	G	G	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:109793608G>T	ENST00000271332.3	+	1	968	c.907G>T	c.(907-909)Gag>Tag	p.E303*		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	303	Cadherin 2.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GGAGAACCTGGAGGTTGGCTA	0.582000													19	62					5.3912e-06	5.51673e-06	1	1	0
SPATA20	64847	broad.mit.edu	37	17	48628248	48628248	+	Silent	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:48628248C>G	ENST00000006658.6	+	11	1473	c.1353C>G	c.(1351-1353)ctC>ctG	p.L451L	SPATA20_ENST00000393244.3_Silent_p.L391L|SPATA20_ENST00000356488.4_Silent_p.L435L|SPATA20_ENST00000511937.1_3'UTR	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	435					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			ACTACGGCCTCACAGAGGCTG	0.632000											OREG0024568	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	81					0	0	1	0	0
PGAP1	80055	broad.mit.edu	37	2	197708715	197708715	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:197708715C>T	ENST00000354764.3	-	25	2536	c.2422G>A	c.(2422-2424)Gat>Aat	p.D808N		NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	808					attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						TCTTCAGCATCGTTGGCAGAT	0.358000													21	74					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11346497	11346497	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:11346497G>A	ENST00000304623.8	-	9	1804	c.1615C>T	c.(1615-1617)Cag>Tag	p.Q539*	CTNND2_ENST00000503622.1_Nonsense_Mutation_p.Q202*|CTNND2_ENST00000458100.2_Nonsense_Mutation_p.Q106*|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Nonsense_Mutation_p.Q448*|CTNND2_ENST00000359640.2_Nonsense_Mutation_p.Q539*	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	539					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GGATCTTTCTGAATGCTATCA	0.468000													23	111					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3786674	3786674	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:3786674C>T	ENST00000262367.5	-	27	5346	c.4537G>A	c.(4537-4539)Gag>Aag	p.E1513K	CREBBP_ENST00000382070.3_Missense_Mutation_p.E1475K	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1513	Interaction with TRERF1.			FAE -> NSG (in Ref. 2; AAC51340).	cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		ATGATCCGCTCTGCAAACGCC	0.478000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						21	142					0	0	1	0	0
GAB4	128954	broad.mit.edu	37	22	17446136	17446136	+	Silent	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr22:17446136C>G	ENST00000400588.1	-	7	1418	c.1311G>C	c.(1309-1311)ctG>ctC	p.L437L		NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	437										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				TGTTGTTTCTCAGGTTGGGCG	0.547000													16	47					0	0	1	0	0
C2CD5	9847	broad.mit.edu	37	12	22643059	22643059	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:22643059C>G	ENST00000333957.4	-	12	1611	c.1356G>C	c.(1354-1356)caG>caC	p.Q452H	C2CD5_ENST00000544930.1_Missense_Mutation_p.Q267H|C2CD5_ENST00000542676.1_Missense_Mutation_p.Q452H|C2CD5_ENST00000396028.2_Missense_Mutation_p.Q443H|C2CD5_ENST00000536386.1_Missense_Mutation_p.Q454H|C2CD5_ENST00000446597.1_Missense_Mutation_p.Q452H|C2CD5_ENST00000545552.1_Missense_Mutation_p.Q465H	NM_014802.1	NP_055617.1			C2 calcium-dependent domain containing 5																		ATGACAACCTCTGTTCCAAAC	0.473000													13	54					0	0	1	0	0
GALNT14	79623	broad.mit.edu	37	2	31154959	31154959	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:31154959C>T	ENST00000349752.5	-	10	1672	c.1033G>A	c.(1033-1035)Gat>Aat	p.D345N	GALNT14_ENST00000356174.3_Missense_Mutation_p.D312N|GALNT14_ENST00000324589.5_Missense_Mutation_p.D350N|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000406653.1_Missense_Mutation_p.D325N|GALNT14_ENST00000420311.2_Missense_Mutation_p.D310N	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	345						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					GCATTTCCATCAGGGAAAACG	0.607000													10	34					0	0	1	0	0
TULP1	7287	broad.mit.edu	37	6	35473538	35473538	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:35473538C>T	ENST00000229771.6	-	11	1171	c.1092G>A	c.(1090-1092)gaG>gaA	p.E364E	TULP1_ENST00000322263.4_Silent_p.E311E	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	364					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						CGATGAAATTCTCCCCTCCTC	0.582000													21	53					0	0	1	0	0
SLC38A8	146167	broad.mit.edu	37	16	84065570	84065570	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:84065570G>A	ENST00000299709.3	-	4	533	c.534C>T	c.(532-534)atC>atT	p.I178I		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	178					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GAGTGCCTAGGATGCTAACAC	0.607000													8	65					0	0	1	0	0
ZNF20	7568	broad.mit.edu	37	19	12244368	12244368	+	Silent	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:12244368G>C	ENST00000334213.5	-	4	857	c.633C>G	c.(631-633)ctC>ctG	p.L211L	ZNF20_ENST00000600335.1_Intron|ZNF625-ZNF20_ENST00000430024.1_3'UTR	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN	zinc finger protein 20	211					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|lung(6)	8						GACATAAATTGAGAAAATAGA	0.388000													57	256					0	0	1	0	0
GPRASP1	9737	broad.mit.edu	37	X	101909468	101909468	+	Silent	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:101909468C>G	ENST00000537097.1	+	6	1440	c.627C>G	c.(625-627)gtC>gtG	p.V209V	GPRASP1_ENST00000444152.1_Silent_p.V209V|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000361600.5_Silent_p.V209V|GPRASP1_ENST00000415986.1_Silent_p.V209V	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	209						cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GAGATGAGGTCACTGCAAAAT	0.443000													58	74					0	0	1	0	0
CNOT6L	246175	broad.mit.edu	37	4	78663422	78663422	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:78663422G>C	ENST00000504123.1	-	8	875	c.745C>G	c.(745-747)Ctc>Gtc	p.L249V	CNOT6L_ENST00000506166.1_5'UTR|CNOT6L_ENST00000264903.4_Missense_Mutation_p.L249V			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	249					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						GGCAGAAAGAGAGTGAAGTAT	0.388000													3	23					0	0	1	0	0
PLAA	9373	broad.mit.edu	37	9	26905634	26905634	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:26905634C>T	ENST00000397292.3	-	14	2680	c.2263G>A	c.(2263-2265)Gat>Aat	p.D755N		NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	755	PUL.				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		TTTGAATCATCACTGATAAGT	0.373000													21	88					0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42847735	42847735	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:42847735G>C	ENST00000334370.4	+	9	2255	c.1620G>C	c.(1618-1620)ttG>ttC	p.L540F	MEGF8_ENST00000251268.6_Missense_Mutation_p.L540F	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	540						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GTGGGGACTTGATGGCGTACA	0.667000													11	31					0	0	1	0	0
PSIP1	11168	broad.mit.edu	37	9	15468961	15468961	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:15468961C>T	ENST00000380733.4	-	13	1543	c.1200G>A	c.(1198-1200)ctG>ctA	p.L400L	PSIP1_ENST00000380738.4_Silent_p.L400L			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	400					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		TTACTTTTTTCAGTGTAGTAA	0.328000													13	35					0	0	1	0	0
MCL1	4170	broad.mit.edu	37	1	150551607	150551607	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:150551607G>A	ENST00000369026.2	-	1	459	c.400C>T	c.(400-402)Ctc>Ttc	p.L134F	MCL1_ENST00000307940.3_Missense_Mutation_p.L134F	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_HUMAN	myeloid cell leukemia sequence 1 (BCL2-related)	134	PEST-like.				anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nucleoplasm	BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-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;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CGCTTCCCGAGAGGCTCCGGC	0.697000													24	43					0	0	1	0	0
ZCCHC4	29063	broad.mit.edu	37	4	25363538	25363538	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:25363538C>T	ENST00000302874.4	+	9	1093	c.1069C>T	c.(1069-1071)Ccc>Tcc	p.P357S		NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	357							methyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				AAAACAGTCTCCCGTGCGTAT	0.368000													8	55					0	0	1	0	0
CCDC8	83987	broad.mit.edu	37	19	46914864	46914864	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:46914864C>G	ENST00000307522.3	-	1	1977	c.1204G>C	c.(1204-1206)Gag>Cag	p.E402Q		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	402						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		TCTGTAACCTCTGACCCCTGG	0.607000													16	72					0	0	1	0	0
SFRP4	6424	broad.mit.edu	37	7	37956055	37956055	+	Missense_Mutation	SNP	T	T	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:37956055T>C	ENST00000436072.2	-	1	462	c.85A>G	c.(85-87)Atc>Gtc	p.I29V	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	29	FZ.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CACATAGGGATGCGCACCGCC	0.672000													16	74					0	0	1	0	0
CASC5	57082	broad.mit.edu	37	15	40915624	40915624	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:40915624G>A	ENST00000346991.5	+	11	3630	c.3240G>A	c.(3238-3240)ctG>ctA	p.L1080L	CASC5_ENST00000399668.2_Silent_p.L1054L			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1080	2 X 104 AA approximate repeats.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		CTGGATTTCTGAATGAACCTC	0.353000													17	71					0	0	1	0	0
ENTPD8	377841	broad.mit.edu	37	9	140329381	140329381	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:140329381G>A	ENST00000371506.2	-	10	1656	c.1473C>T	c.(1471-1473)ttC>ttT	p.F491F	ENTPD8_ENST00000344119.2_Silent_p.F454F|ENTPD8_ENST00000472938.1_Silent_p.F491F	NM_001033113.1	NP_001028285.1	Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	491						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)		CCTGCAACCAGAAGAGCTGGA	0.677000													7	22					0	0	1	0	0
FEN1	2237	broad.mit.edu	37	11	61563263	61563263	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:61563263C>G	ENST00000305885.2	+	2	843	c.430C>G	c.(430-432)Ctg>Gtg	p.L144V	FADS2_ENST00000574708.1_Intron	NM_004111.5	NP_004102.1	P39748	FEN1_HUMAN	flap structure-specific endonuclease 1	144	I-domain.				base-excision repair|DNA replication, removal of RNA primer|double-strand break repair|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|UV protection	mitochondrion|nucleolus|nucleoplasm	5'-3' exonuclease activity|5'-flap endonuclease activity|damaged DNA binding|double-stranded DNA binding|double-stranded DNA specific exodeoxyribonuclease activity|metal ion binding|protein binding|ribonuclease H activity			endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						GTGCAAACATCTGCTGAGCCT	0.572000								Editing and processing nucleases					15	62					0	0	1	0	0
KIF17	57576	broad.mit.edu	37	1	21042076	21042076	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:21042076C>T	ENST00000247986.2	-	2	598	c.288G>A	c.(286-288)ggG>ggA	p.G96G	KIF17_ENST00000375044.1_5'UTR|KIF17_ENST00000400463.3_Silent_p.G96G			Q9P2E2	KIF17_HUMAN	kinesin family member 17	96	Kinesin-motor.				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TGAAGGACTTCCCGCTGCCTG	0.647000													10	62					0	0	1	0	0
RTP2	344892	broad.mit.edu	37	3	187416365	187416365	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:187416365C>T	ENST00000358241.1	-	2	1027	c.599G>A	c.(598-600)cGc>cAc	p.R200H		NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	200					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		GAGGCACCAGCGAAGAGACAA	0.587000													6	59					0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186671243	186671243	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:186671243C>T	ENST00000343098.5	+	17	17477	c.17477C>T	c.(17476-17478)tCa>tTa	p.S5826L	FSIP2_ENST00000424728.1_Missense_Mutation_p.S5737L	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						GTATCCTCCTCAACTAACAAA	0.368000													26	66					0	0	1	0	0
DSG2	1829	broad.mit.edu	37	18	29116340	29116340	+	Silent	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr18:29116340C>G	ENST00000261590.8	+	11	1808	c.1599C>G	c.(1597-1599)gtC>gtG	p.V533V		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	533					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			GTTTCTCCGTCATTGACAAAC	0.433000													13	34					0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102069095	102069095	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:102069095G>A	ENST00000549145.1	+	26	2953	c.2853G>A	c.(2851-2853)gtG>gtA	p.V951V	MYBPC1_ENST00000441232.1_Silent_p.V938V|MYBPC1_ENST00000547509.1_Silent_p.V906V|MYBPC1_ENST00000545503.2_Silent_p.V920V|MYBPC1_ENST00000547405.1_Silent_p.V894V|MYBPC1_ENST00000541119.1_Silent_p.V908V|MYBPC1_ENST00000536007.1_Silent_p.V901V|MYBPC1_ENST00000361685.2_Silent_p.V945V|MYBPC1_ENST00000361466.2_Silent_p.V945V|MYBPC1_ENST00000392934.3_Silent_p.V907V|MYBPC1_ENST00000360610.2_Silent_p.V938V|MYBPC1_ENST00000553190.1_Silent_p.V920V|MYBPC1_ENST00000551300.1_Silent_p.V821V|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Silent_p.V938V|MYBPC1_ENST00000452455.2_Silent_p.V938V			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	938	Fibronectin type-III 3.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						CCCAAATTGTGAAGATTGAGG	0.453000													4	27					0	0	1	0	0
PTPRU	10076	broad.mit.edu	37	1	29638032	29638032	+	Silent	SNP	C	C	T	rs140673849	byFrequency	TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:29638032C>T	ENST00000373779.3	+	20	3051	c.2922C>T	c.(2920-2922)atC>atT	p.I974I	PTPRU_ENST00000356870.3_Silent_p.I980I|PTPRU_ENST00000323874.8_Silent_p.I980I|PTPRU_ENST00000428026.2_Silent_p.I974I|PTPRU_ENST00000345512.3_Silent_p.I984I|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000460170.2_Silent_p.I980I	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	984	Tyrosine-protein phosphatase 1.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GTTCCAGCATCGTCATGATCA	0.637000													15	61					0	0	1	0	0
SLC6A19	340024	broad.mit.edu	37	5	1219654	1219654	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:1219654C>T	ENST00000304460.10	+	10	1469	c.1413C>T	c.(1411-1413)ttC>ttT	p.F471F		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	471					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TCATTGGCTTCATCTTCACGC	0.627000													11	22					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16260136	16260136	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:16260136C>T	ENST00000375759.3	+	11	7605	c.7401C>T	c.(7399-7401)atC>atT	p.I2467I		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2467	Pro-rich.|RID.				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)		ATCCAAGCATCCCCATACCCA	0.597000													13	71					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110472020	110472020	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr8:110472020G>C	ENST00000378402.5	+	47	7305	c.7201G>C	c.(7201-7203)Gag>Cag	p.E2401Q		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2401					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)			TGATAATGTTGAGTGGAATAA	0.363000										HNSCC(38;0.096)			5	27					0	0	1	0	0
CPSF3	51692	broad.mit.edu	37	2	9580747	9580747	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:9580747G>A	ENST00000460593.1	+	8	1915	c.777G>A	c.(775-777)caG>caA	p.Q259Q	CPSF3_ENST00000238112.3_Silent_p.Q296Q			Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	296					histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		TCCGCAAACAGATCAACATCA	0.368000													18	85					0	0	1	0	0
SMARCA5	8467	broad.mit.edu	37	4	144457757	144457757	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:144457757C>T	ENST00000283131.3	+	11	1883	c.1421C>T	c.(1420-1422)aCa>aTa	p.T474I		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	474					CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					CCTTATACAACAGATATGCAT	0.383000													15	65					0	0	1	0	0
RADIL	55698	broad.mit.edu	37	7	4917288	4917288	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:4917288C>G	ENST00000399583.3	-	2	670	c.483G>C	c.(481-483)aaG>aaC	p.K161N	RADIL_ENST00000536091.1_Missense_Mutation_p.K161N	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	161	Ras-associating.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CGTCCGACCTCTTCCTCAGCT	0.602000													24	52					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8203089	8203089	+	Silent	SNP	T	T	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:8203089T>A	ENST00000600128.1	-	10	1551	c.1137A>T	c.(1135-1137)cgA>cgT	p.R379R	FBN3_ENST00000270509.2_Silent_p.R379R|FBN3_ENST00000601739.1_Silent_p.R379R			Q75N90	FBN3_HUMAN	fibrillin 3	379						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGGGGTTGAGTCGCGCTGGCC	0.662000													7	23					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33331002	33331002	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:33331002G>A	ENST00000374796.2	-	12	5628	c.3058C>T	c.(3058-3060)Cag>Tag	p.Q1020*	NCOA6_ENST00000359003.2_Nonsense_Mutation_p.Q1020*			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1020	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						GACTGTGGCTGACTGGGAGGT	0.567000													21	102					0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134073076	134073076	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:134073076C>T	ENST00000264360.4	+	1	2607	c.1781C>T	c.(1780-1782)gCg>gTg	p.A594V		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	594	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CCCCGCTCGGCGGAGCCGGGT	0.652000													12	47					0	0	1	0	0
TSC1	7248	broad.mit.edu	37	9	135771804	135771804	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:135771804C>T	ENST00000298552.3	-	23	3534	c.3313G>A	c.(3313-3315)Gat>Aat	p.D1105N	TSC1_ENST00000440111.2_Missense_Mutation_p.D1105N|TSC1_ENST00000545250.1_Missense_Mutation_p.D1054N	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	1105					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		CCGTCCTCATCACACTGGCTC	0.522000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				24	65					0	0	1	0	0
TRPV6	55503	broad.mit.edu	37	7	142573563	142573563	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:142573563G>A	ENST00000359396.3	-	7	1102	c.857C>T	c.(856-858)tCa>tTa	p.S286L		NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	286					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CTCATCCCCTGAGGAGTCGAT	0.562000													44	73					0	0	1	0	0
ANKFN1	162282	broad.mit.edu	37	17	54526483	54526483	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:54526483G>C	ENST00000566473.2	+	10	1152	c.1152G>C	c.(1150-1152)caG>caC	p.Q384H	ANKFN1_ENST00000318698.2_Missense_Mutation_p.Q384H			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	384										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						ACAAGGGACAGAGTGAAGTTT	0.463000													10	65					0	0	1	0	0
CYGB	114757	broad.mit.edu	37	17	74527688	74527688	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:74527688G>A	ENST00000293230.5	-	2	591	c.229C>T	c.(229-231)Cag>Tag	p.Q77*	CYGB_ENST00000589145.1_Nonsense_Mutation_p.Q12*|CYGB_ENST00000589342.1_Nonsense_Mutation_p.Q77*|CYGB_ENST00000590175.1_Nonsense_Mutation_p.Q12*|PRCD_ENST00000592432.1_Intron	NM_134268.4	NP_599030.1	Q8WWM9	CYGB_HUMAN	cytoglobin	77	Globin.				response to oxidative stress	cytoplasm	heme binding|oxygen binding|oxygen transporter activity|peroxidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)	7						TTCCGCAGCTGGGGGCTCCGC	0.607000													7	54					0	0	1	0	0
HIST4H4	121504	broad.mit.edu	37	12	14923862	14923862	+	Missense_Mutation	SNP	C	C	T	rs148045723		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:14923862C>T	ENST00000539745.1	-	1	203	c.157G>A	c.(157-159)Gag>Aag	p.E53K		NM_175054.2	NP_778224.1	P62805	H4_HUMAN	histone cluster 4, H4	53					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)	6						CGGGTCTCCTCGTAGATGAGA	0.607000											OREG0021698	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	42					0	0	1	0	0
BRINP1	1620	broad.mit.edu	37	9	121929550	121929550	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:121929550G>C	ENST00000265922.3	-	8	2559	c.2098C>G	c.(2098-2100)Cgg>Ggg	p.R700G	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		700					cell cycle arrest|cell death	cytoplasm	protein binding	p.R700W(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						ATTCGGTCCCGAATATCCAAC	0.572000													20	87					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													5	133					0	0	1	0	0
ATRN	8455	broad.mit.edu	37	20	3557510	3557510	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:3557510C>G	ENST00000262919.5	+	14	2287	c.2219C>G	c.(2218-2220)tCc>tGc	p.S740C	ATRN_ENST00000446916.2_Missense_Mutation_p.S740C	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	740	PSI 1.				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						TTCTAGATCTCCATTTTTAGG	0.433000													41	153					0	0	1	0	0
SLFNL1	200172	broad.mit.edu	37	1	41486213	41486213	+	Silent	SNP	G	G	A	rs146820397	byFrequency	TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:41486213G>A	ENST00000359345.1	-	1	2696	c.120C>T	c.(118-120)ctC>ctT	p.L40L	SLFNL1_ENST00000372611.1_Silent_p.L40L|SLFNL1_ENST00000397197.2_Silent_p.L40L|SLFNL1_ENST00000302946.8_Silent_p.L40L|SLFNL1_ENST00000439569.2_Silent_p.L40L|SLFNL1_ENST00000372613.2_Silent_p.L40L	NM_144990.3	NP_659427.3	Q499Z3	SLNL1_HUMAN	schlafen-like 1	40							ATP binding	p.L40L(1)		endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				GAGCCTCCTCGAGGTCAGAGT	0.637000													18	49					0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126740945	126740945	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:126740945G>A	ENST00000393409.2	+	21	4056	c.4056G>A	c.(4054-4056)gaG>gaA	p.E1352E	PLXNA1_ENST00000251772.4_Silent_p.E1329E	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1352					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CCAATGTGGAGAAGTCGCTGA	0.627000													13	41					0	0	1	0	0
C4orf27	54969	broad.mit.edu	37	4	170663224	170663224	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:170663224C>T	ENST00000393381.2	-	5	607	c.532G>A	c.(532-534)Gat>Aat	p.D178N		NM_017867.2	NP_060337.2	Q9NWY4	CD027_HUMAN	chromosome 4 open reading frame 27	178						nucleus				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	12		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116)		TTCTTTTTATCCGTTATTTCT	0.358000													20	107					0	0	1	0	0
RASGEF1C	255426	broad.mit.edu	37	5	179546440	179546440	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:179546440C>G	ENST00000393371.2	-	7	1109	c.813G>C	c.(811-813)aaG>aaC	p.K271N	RASGEF1C_ENST00000519883.1_5'UTR|RASGEF1C_ENST00000361132.4_Missense_Mutation_p.K271N|RASGEF1C_ENST00000522500.1_Missense_Mutation_p.K120N			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	271	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTGCTTCTTCTTGGCTGGCT	0.612000													4	27					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1269734	1269734	+	Missense_Mutation	SNP	T	T	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:1269734T>C	ENST00000447027.1	+	31	11691	c.11633T>C	c.(11632-11634)gTc>gCc	p.V3878A	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.V3875A			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3875	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGCTTCACAGTCACCCCCTCC	0.647000													5	82					0	0	1	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18956124	18956124	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:18956124C>T	ENST00000302797.3	-	1	432	c.208G>A	c.(208-210)Gca>Aca	p.A70T	MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	70					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AAGTCTGCTGCGGCCAAGTTG	0.532000													26	127					0	0	1	0	0
PPP4R4	57718	broad.mit.edu	37	14	94700935	94700935	+	Silent	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr14:94700935C>G	ENST00000304338.3	+	7	814	c.660C>G	c.(658-660)ctC>ctG	p.L220L		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	220						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TAAAATCACTCTGTCAAGATG	0.373000													7	37					0	0	1	0	0
SYT1	6857	broad.mit.edu	37	12	79679678	79679678	+	Missense_Mutation	SNP	G	G	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:79679678G>T	ENST00000261205.4	+	5	935	c.278G>T	c.(277-279)gGa>gTa	p.G93V	SYT1_ENST00000393240.3_Missense_Mutation_p.G93V|SYT1_ENST00000457153.2_Missense_Mutation_p.G93V|SYT1_ENST00000552744.1_Missense_Mutation_p.G93V	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	93					detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						AAGAAGAAGGGAAAGGAAAAA	0.363000													13	65					5.50884e-06	5.63054e-06	1	1	0
MTCH1	23787	broad.mit.edu	37	6	36946345	36946345	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:36946345C>T	ENST00000373627.5	-	3	573	c.449G>A	c.(448-450)cGa>cAa	p.R150Q	MTCH1_ENST00000373616.5_Missense_Mutation_p.R150Q|MTCH1_ENST00000538808.1_5'UTR	NM_001271641.1	NP_001258570.1	Q9NZJ7	MTCH1_HUMAN	mitochondrial carrier 1	150					activation of caspase activity|neuronal ion channel clustering|positive regulation of apoptosis|regulation of signal transduction|transport	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						ACTCAGGCCTCGGAACAGCCC	0.577000													21	71					0	0	1	0	0
PTPRE	5791	broad.mit.edu	37	10	129868020	129868020	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:129868020G>A	ENST00000254667.3	+	13	1351	c.1072G>A	c.(1072-1074)Gag>Aag	p.E358K	PTPRE_ENST00000419012.2_Missense_Mutation_p.E358K|PTPRE_ENST00000306042.5_Missense_Mutation_p.E300K	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	358	Tyrosine-protein phosphatase 1.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				GATGCACGCGGAGCAGAAGGT	0.547000											OREG0020623	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	106					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79351553	79351553	+	Nonsense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:79351553C>T	ENST00000264895.6	+	37	5391	c.4951C>T	c.(4951-4953)Cga>Tga	p.R1651*	FRAS1_ENST00000325942.6_Nonsense_Mutation_p.R1651*	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1650					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AGCTGAGTTCCGAAGGCCGAT	0.498000													8	26					0	0	1	0	0
CCDC155	147872	broad.mit.edu	37	19	49920332	49920332	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:49920332G>C	ENST00000447857.3	+	18	1640	c.1435G>C	c.(1435-1437)Gag>Cag	p.E479Q		NM_144688.4	NP_653289.3	Q8N6L0	CC155_HUMAN	coiled-coil domain containing 155	479						integral to membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						AAACCCTCCAGAGAGGTAATA	0.607000													3	14					0	0	1	0	0
PDE9A	5152	broad.mit.edu	37	21	44152179	44152179	+	Splice_Site	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr21:44152179G>C	ENST00000291539.6	+	6	502		c.e6-1		PDE9A_ENST00000335512.4_Splice_Site|PDE9A_ENST00000398229.3_Intron|PDE9A_ENST00000398225.3_Splice_Site|PDE9A_ENST00000539837.1_Intron|PDE9A_ENST00000398224.3_Splice_Site|PDE9A_ENST00000398232.3_Splice_Site|PDE9A_ENST00000335440.6_Intron|PDE9A_ENST00000398234.3_Splice_Site|PDE9A_ENST00000380328.2_Intron|PDE9A_ENST00000398227.3_Intron|PDE9A_ENST00000398236.3_Splice_Site|PDE9A_ENST00000328862.6_Splice_Site|PDE9A_ENST00000349112.3_Intron|PDE9A_ENST00000470987.1_Splice_Site	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A						platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						TTGGTTTGTAGAGAGAGAAGA	0.507000													10	48					0	0	1	0	0
FIBIN	387758	broad.mit.edu	37	11	27016448	27016448	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:27016448G>A	ENST00000318627.2	+	1	821	c.375G>A	c.(373-375)caG>caA	p.Q125Q		NM_203371.1	NP_976249.1	Q8TAL6	FIBIN_HUMAN	fin bud initiation factor homolog (zebrafish)	125						extracellular region|Golgi apparatus				breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						AGTCCCACCAGATCGGGGATG	0.602000													18	54					0	0	1	0	0
METTL10	399818	broad.mit.edu	37	10	126454034	126454034	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:126454034C>T	ENST00000494792.1	-	5	436	c.437G>A	c.(436-438)tGa>tAa	p.*146*	METTL10_ENST00000368836.2_Silent_p.L181L																							CTTTTACTTTCAACACCCTGG	0.353000													36	134					0	0	1	0	0
SLC4A10	57282	broad.mit.edu	37	2	162751237	162751237	+	Nonsense_Mutation	SNP	T	T	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:162751237T>G	ENST00000535165.1	+	10	1276	c.1155T>G	c.(1153-1155)taT>taG	p.Y385*	SLC4A10_ENST00000415876.2_Missense_Mutation_p.S385A|SLC4A10_ENST00000375514.5_Missense_Mutation_p.S396A|SLC4A10_ENST00000446997.1_Missense_Mutation_p.S415A|SLC4A10_ENST00000272716.5_Missense_Mutation_p.S385A|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000421911.1_Missense_Mutation_p.S415A			Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	0					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TGACTTGGTATCAGGAATTGA	0.343000													15	40					0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85515476	85515476	+	Splice_Site	SNP	G	G	A	rs147514803		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:85515476G>A	ENST00000393217.2	+	16	3440	c.3377_splice	c.e16-1	p.D1127_splice		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1127	LRRCT.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TTTCAATAGGGATTCTCTACT	0.333000													24	76					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75038215	75038215	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:75038215C>T	ENST00000326665.5	-	14	3397	c.3179G>A	c.(3178-3180)cGa>cAa	p.R1060Q	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1060	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						AGCTTTCCTTCGCTCTCTTGC	0.428000													31	139					0	0	1	0	0
SFN	2810	broad.mit.edu	37	1	27190297	27190297	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:27190297C>T	ENST00000339276.4	+	1	665	c.594C>T	c.(592-594)ttC>ttT	p.F198F		NM_006142.3	NP_006133.1	P31947	1433S_HUMAN	stratifin	198					DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		AGACCACTTTCGACGAGGCCA	0.602000													22	76					0	0	1	0	0
PEBP1	5037	broad.mit.edu	37	12	118577301	118577301	+	Silent	SNP	C	C	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:118577301C>A	ENST00000261313.2	+	3	643	c.291C>A	c.(289-291)atC>atA	p.I97I	PEBP1_ENST00000542939.1_3'UTR	NM_002567.2	NP_002558.1	P30086	PEBP1_HUMAN	phosphatidylethanolamine binding protein 1	97							ATP binding|phosphatidylethanolamine binding|serine-type endopeptidase inhibitor activity			ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCAATGACATCAGCAGTGGCA	0.537000													23	73					2.21704e-12	2.33946e-12	1	1	0
MYH7	4625	broad.mit.edu	37	14	23900999	23900999	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr14:23900999G>A	ENST00000355349.3	-	7	772	c.610C>T	c.(610-612)Cgc>Tgc	p.R204C		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	204	Myosin head-like.		R -> H (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TTCTTGCTGCGGTCCCCAATG	0.572000													14	104					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139707101	139707101	+	Nonsense_Mutation	SNP	C	C	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr8:139707101C>A	ENST00000303045.6	-	33	3060	c.2614G>T	c.(2614-2616)Gag>Tag	p.E872*	COL22A1_ENST00000435777.1_Nonsense_Mutation_p.E872*|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	872	Collagen-like 7.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCGCCCTTCTCTCCTTTGGGC	0.617000										HNSCC(7;0.00092)			9	31					4.1943e-16	4.47426e-16	1	1	0
GALNT16	57452	broad.mit.edu	37	14	69805469	69805469	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr14:69805469G>A	ENST00000337827.4	+	10	1396	c.1069G>A	c.(1069-1071)Gag>Aag	p.E357K	GALNT16_ENST00000553669.1_Missense_Mutation_p.E357K|GALNT16_ENST00000448469.3_Missense_Mutation_p.E357K	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16																		CAACTTCCCTGAGGGTAATGC	0.597000													13	28					0	0	1	0	0
SEMA3A	10371	broad.mit.edu	37	7	83675760	83675760	+	Splice_Site	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:83675760C>G	ENST00000265362.3	-	6	862		c.e6-1		SEMA3A_ENST00000436949.1_Splice_Site	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A						axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						AATTCTCCATCTGTGTTGTGA	0.398000													35	119					0	0	1	0	0
LMOD1	25802	broad.mit.edu	37	1	201868762	201868762	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:201868762C>T	ENST00000367288.4	-	2	1625	c.1379G>A	c.(1378-1380)cGa>cAa	p.R460Q	RP11-307B6.3_ENST00000458139.1_RNA|RP11-307B6.3_ENST00000414927.1_RNA	NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	460					muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GACAGTCATTCGGGGCCCGGC	0.562000													6	19					0	0	1	0	0
CLDN8	9073	broad.mit.edu	37	21	31587582	31587582	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr21:31587582C>T	ENST00000399899.1	-	1	809	c.662G>A	c.(661-663)aGa>aAa	p.R221K	CLDN8_ENST00000286809.1_Missense_Mutation_p.R221K	NM_199328.2	NP_955360.1	P56748	CLD8_HUMAN	claudin 8	221					calcium-independent cell-cell adhesion	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity			NS(1)|endometrium(2)|large_intestine(6)|lung(6)	15						ATACTGACTTCTGGAGTAGAC	0.383000													30	105					0	0	1	0	0
LIMS2	55679	broad.mit.edu	37	2	128414994	128414994	+	Nonsense_Mutation	SNP	C	C	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:128414994C>A	ENST00000409455.1	-	2	774	c.139G>T	c.(139-141)Gag>Tag	p.E47*	LIMS2_ENST00000410011.1_Nonsense_Mutation_p.E47*|LIMS2_ENST00000545738.2_Nonsense_Mutation_p.E74*|LIMS2_ENST00000324938.5_Nonsense_Mutation_p.E76*|LIMS2_ENST00000355119.4_Nonsense_Mutation_p.E52*|LIMS2_ENST00000409808.2_Nonsense_Mutation_p.E47*			Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	52	LIM zinc-binding 1.				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		AAGAGCCCCTCGGGGAAGGGC	0.632000													25	63					1.13719e-10	1.19425e-10	1	1	0
SF3A3	10946	broad.mit.edu	37	1	38453301	38453301	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:38453301C>T	ENST00000373019.4	-	4	1202	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	SF3A3_ENST00000448721.2_Intron|SF3A3_ENST00000489537.1_5'UTR	NM_006802.2	NP_006793.1	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3, 60kDa	83					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TTATAGAATTCAGCAAACTCA	0.398000													26	106					0	0	1	0	0
EHBP1L1	254102	broad.mit.edu	37	11	65351862	65351862	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:65351862G>A	ENST00000309295.4	+	10	3509	c.3244G>A	c.(3244-3246)Gac>Aac	p.D1082N		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	1082	CH.									central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						ATTCTACCCAGACAAGATGTG	0.602000													19	35					0	0	1	0	0
ACVR1C	130399	broad.mit.edu	37	2	158443739	158443739	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:158443739G>A	ENST00000243349.7	-	2	624	c.264C>T	c.(262-264)ttC>ttT	p.F88F	ACVR1C_ENST00000348328.5_Silent_p.F88F|ACVR1C_ENST00000335450.7_Silent_p.F88F|ACVR1C_ENST00000409680.3_Silent_p.F38F	NM_145259.2	NP_660302.2	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC	88					apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						AAAAATCTGTGAAGCAGCATT	0.388000													43	193					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117768313	117768313	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:117768313C>T	ENST00000317775.6	-	2	1247	c.562G>A	c.(562-564)Gcg>Acg	p.A188T	NOS1_ENST00000338101.4_Missense_Mutation_p.A188T|NOS1_ENST00000344089.3_Missense_Mutation_p.A188T	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	188	Interaction with NOSIP (By similarity).|PIN (nNOS-inhibiting protein) binding.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.A188T(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GCTTTCTTCGCGGGGTCCTGG	0.632000													15	117					0	0	1	0	0
XKR4	114786	broad.mit.edu	37	8	56015561	56015561	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr8:56015561C>T	ENST00000327381.5	+	1	613	c.513C>T	c.(511-513)ttC>ttT	p.F171F		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	171						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TGCACGATTTCAGCACCGAGG	0.667000											OREG0006933	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=XKR4|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	14	28					0	0	1	0	0
ZNF585B	92285	broad.mit.edu	37	19	37678011	37678011	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:37678011G>A	ENST00000532828.2	-	5	679	c.428C>T	c.(427-429)tCa>tTa	p.S143L	ZNF585B_ENST00000312908.5_5'UTR|ZNF585B_ENST00000531805.1_Missense_Mutation_p.S88L|ZNF585B_ENST00000527838.1_Missense_Mutation_p.S143L|CTC-454I21.3_ENST00000585860.2_Intron	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTTGAACTGTGACTTCCAGGT	0.388000													31	105					0	0	1	0	0
CPA3	1359	broad.mit.edu	37	3	148614436	148614436	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:148614436G>A	ENST00000296046.3	+	11	1248	c.1196G>A	c.(1195-1197)aGa>aAa	p.R399K	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	399					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			CCAACGTGCAGAGAGACCATG	0.418000													57	81					0	0	1	0	0
CBX8	57332	broad.mit.edu	37	17	77768657	77768657	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:77768657G>C	ENST00000269385.4	-	5	1064	c.947C>G	c.(946-948)tCt>tGt	p.S316C		NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	chromobox homolog 8	316					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex	methylated histone residue binding			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GCCCCCCCCAGAGCTGGGGGG	0.682000													10	19					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129558525	129558525	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:129558525G>A	ENST00000422113.2	-	9	3521	c.3195C>T	c.(3193-3195)atC>atT	p.I1065I	TMEM132D_ENST00000389441.4_Silent_p.I603I	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	1065						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TACTCATCACGATGGAGTTCC	0.517000													34	130					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105417917	105417917	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr14:105417917G>C	ENST00000333244.5	-	7	3990	c.3871C>G	c.(3871-3873)Ctg>Gtg	p.L1291V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1291						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACACTGGGCAGAGACACAGCC	0.632000													46	198					0	0	1	0	0
CORO2A	7464	broad.mit.edu	37	9	100892109	100892109	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:100892109C>T	ENST00000343933.5	-	8	1191	c.934G>A	c.(934-936)Gag>Aag	p.E312K	CORO2A_ENST00000375077.4_Missense_Mutation_p.E312K	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	312					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GAGCGGTACTCAGTCAGGTAG	0.562000													45	160					0	0	1	0	0
METTL2B	55798	broad.mit.edu	37	7	128138151	128138151	+	Nonsense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:128138151C>T	ENST00000480046.1	+	6	791	c.676C>T	c.(676-678)Cga>Tga	p.R226*	METTL2B_ENST00000262432.8_Nonsense_Mutation_p.R291*			Q6P1Q9	MTL2B_HUMAN	methyltransferase like 2B	291							methyltransferase activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GGTACTTCTGCGAGATTACGG	0.478000													25	68					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152128637	152128640	+	Frame_Shift_Del	DEL	TGTC	TGTC	-			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:152128637_152128640delTGTC	ENST00000316073.3	-	3	999_1002	c.935_938delGACA	c.(934-939)aafs	p.RQ312fs		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	312	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTCTGGCCTTGTCTGTCTGTCTG	0.515													7	1066	---	---	---	---					
EMC3-AS1	442075	broad.mit.edu	37	3	10035779	10035783	+	RNA	DEL	AGTCT	AGTCT	-	rs35714562		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:10035779_10035783delAGTCT	ENST00000326237.3	+	0	354																											GGGGAAGAGAAGTCTGATCTGACAT	0.380													10	56	---	---	---	---					
ADAM19	8728	broad.mit.edu	37	5	156908825	156908825	+	Frame_Shift_Del	DEL	G	G	-	rs34145949		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:156908825delG	ENST00000257527.4	-	22	2755	c.2677delC	c.(2677-2679)ggfs	p.R893fs	ADAM19_ENST00000394020.1_Frame_Shift_Del_p.R895fs|ADAM19_ENST00000517905.1_Frame_Shift_Del_p.R893fs|ADAM19_ENST00000430702.2_Intron	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	893					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCCAGAGGCCGGGACTGCTGA	0.667													2	4	---	---	---	---					
ZNRF2P2	100271874	broad.mit.edu	37	7	29720482	29720483	+	RNA	INS	-	-	G	rs70980562		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:29720482_29720483insG	ENST00000426767.1	-	0	366					NR_024278.1																						CTCTCAGATCAGTGATGCCCTG	0.485													8	21	---	---	---	---					
AZGP1P1	646282	broad.mit.edu	37	7	99578584	99578584	+	RNA	DEL	G	G	-			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:99578584delG	ENST00000425474.1	+	0	87					NR_036679.1																						GCATATGGCAGGAACAGGTGT	0.562													10	49	---	---	---	---					
TAS2R10	50839	broad.mit.edu	37	12	10978281	10978282	+	Frame_Shift_Ins	INS	-	-	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:10978281_10978282insA	ENST00000240619.2	-	1	675_676	c.587_588insT	c.(586-588)tatfs	p.Y196fs		NM_023921.1	NP_076410.1	Q9NYW0	T2R10_HUMAN	taste receptor, type 2, member 10	196					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						GGGAAATGATTAAAAAAATACA	0.347													39	106	---	---	---	---					
GIT2	9815	broad.mit.edu	37	12	110390897	110390899	+	Splice_Site	DEL	CTT	CTT	-			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:110390897_110390899delCTT	ENST00000360185.4	-	13	1404_1406	c.1242_splice	c.e13+1	p.K414_splice	GIT2_ENST00000343646.5_Intron|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000355312.3_Splice_Site_p.K414_splice|GIT2_ENST00000547815.1_Splice_Site_p.K414_splice|GIT2_ENST00000338373.5_Splice_Site_p.K414_splice|GIT2_ENST00000553118.1_Splice_Site_p.K414_splice|GIT2_ENST00000551209.1_Splice_Site_p.K413_splice|GIT2_ENST00000356259.4_Splice_Site_p.K414_splice|GIT2_ENST00000354574.4_Splice_Site_p.K416_splice|GIT2_ENST00000457474.2_Splice_Site_p.K416_splice|GIT2_ENST00000320063.9_Splice_Site_p.K414_splice|GIT2_ENST00000361006.5_Splice_Site_p.K414_splice			Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	464					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						GGCCTCTCACCTTCTGCCGGTTT	0.542													20	38	---	---	---	---					
ACIN1	22985	broad.mit.edu	37	14	23528502	23528503	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr14:23528502_23528503delTC	ENST00000262710.1	-	19	4207_4208	c.3880_3881delGA	c.(3880-3882)afs	p.E1294fs	ACIN1_ENST00000555053.1_Frame_Shift_Del_p.E1281fs|ACIN1_ENST00000605057.1_Frame_Shift_Del_p.E1236fs|ACIN1_ENST00000457657.1_Frame_Shift_Del_p.E1254fs|ACIN1_ENST00000397341.3_Frame_Shift_Del_p.E536fs|ACIN1_ENST00000557515.1_Frame_Shift_Del_p.E535fs|ACIN1_ENST00000357481.2_Frame_Shift_Del_p.E536fs|ACIN1_ENST00000338631.6_Frame_Shift_Del_p.E567fs	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1294	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		ccgctccctttctctctctctc	0.629											OREG0022595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	50	---	---	---	---					
IGHV3-20	28445	broad.mit.edu	37	14	106667892	106667893	+	RNA	DEL	AC	AC	-			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr14:106667892_106667893delAC	ENST00000390606.2	-	0	108																											ACACCTGCAAACACAGAGACAC	0.530													7	97	---	---	---	---					
RP11-1094M14.11	0	broad.mit.edu	37	17	33900515	33900516	+	RNA	DEL	AA	AA	-			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:33900515_33900516delAA	ENST00000592381.1	+	0	382																											accctgtcttaaaaaaaaaaag	0.411													2	4	---	---	---	---					
ROCK1P1	727758	broad.mit.edu	37	18	112482	112482	+	RNA	DEL	C	C	-			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr18:112482delC	ENST00000576266.1	+	0	116																											AGGGGTGCTTCCAGCGAGGCG	0.622													7	43	---	---	---	---					
SAT1	6303	broad.mit.edu	37	X	23802146	23802147	+	Frame_Shift_Ins	INS	-	-	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:23802146_23802147insA	ENST00000379253.3	+	3	527_528	c.348_349insA	c.(346-351)agaaaafs	p.RK116fs	SAT1_ENST00000379254.1_Intron|SAT1_ENST00000379251.3_Frame_Shift_Ins_p.RK146fs|SAT1_ENST00000489394.1_Intron|SAT1_ENST00000379270.4_Intron			P21673	SAT1_HUMAN	spermidine/spermine N1-acetyltransferase 1	0	N-acetyltransferase.				angiogenesis|polyamine biosynthetic process	cytosol	diamine N-acetyltransferase activity|protein binding	p.N150fs*13(3)		breast(1)|endometrium(3)|kidney(3)|lung(3)	10					Spermine(DB00127)	AACTACTGAGGAAAAAAAAAAA	0.396													2	4	---	---	---	---					
MAGEC3	139081	broad.mit.edu	37	X	140984806	140984806	+	Frame_Shift_Del	DEL	C	C	-			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:140984806delC	ENST00000298296.1	+	7	1262	c.1262delC	c.(1261-1263)tcfs	p.S421fs	MAGEC3_ENST00000409007.1_Frame_Shift_Del_p.S123fs|MAGEC3_ENST00000544766.1_Frame_Shift_Del_p.S123fs|MAGEC3_ENST00000536088.1_Frame_Shift_Del_p.S123fs|MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000443323.2_Frame_Shift_Del_p.S43fs	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	421										NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTGCTCATCCCCTCTTTTG	0.572													8	12	---	---	---	---					
